ID	chrom	interval_start	interval_end	dbsnp_dbvar_id	variant_start	variant_end	cyto_location	ref_allele	alt_allele	effect	HGSV_notation	gene	disease_name(s)	disease_omim	disease_orphanet	clinvar_link	VCV	RCV	allele_id	quality_rating
rs269316	chr1	52635933	53635933	NA	52835048	52839295	1p32.3	TGTACATCTCCCATATTGCAACACCTCCCTTTCCCAAAGATGTACCCATTATCCTAAATTTAGTGTTTATTATTCCTGAGCATTTCTATTTCTGTGTAGGTATCCTTAAGCAATACATAGTATTTTTTTTGCCAGCTTTTAAAAATTATATCATTGGTTACATACAGTGTAATTCTTCAACCTTTTTCTACTCAACCCTGTTTGTAAGCTTCACTCAAATTGACATGTATACTGTATCTAGTTAGCTGATTTTCATTTCTGTTATGATTCCATAGCATGAAAATAAGTCACTTTCCCAATGGCTTACCATTATAGAGTGCTATGAACTTTTTGTATATGACTCTTGGTGTACGTATGTGAATTTCTCTAGAGCATATACTTAGGAATGGAATTGCTGGCTGCATTAGTCAGGTTTCTCTAGAGGAACAGAACTAATAGGATATATATATATATATATGTGTGTGTGTGTGTGTATATATATATGTGTGTGTGTGTGTATATATATGTGTGTATATATATATATGTGTATATATATATATAGTCCCACAATAGGCTGTCTGCATGCTCTATTAACCATCACACTGGCTGATATGGTTTGGCTCTGTGTTCCCACCCAAATCTCATCTTGAATAGTAATCCCATAATCCCCATGTGTCCTGGGAGGCATCTTGTGGGAGGTAATTGAATCATGGTTTCCTTCATGCTGTTCTTGTGATAGGAGTGAGTTCTCACGAGATCTGATGGTTTTATAAGCATCTGGCATTTCCCCTGCTGGCACTCATTCTCTCTCCTGCTGCCCTGTGAAGAGGTGCCTTTCACCATGATTTTAAGTTTCCTGAGGGCTCCCCAGCCATGTGGAACTGTGAGTCAATTAAACCTCTTTTCTTTATAAATTACGCAGTCTCAGGTATTTCTTCATAGCGCGAGGACAGACTAATACACTGGCTCATACAATTTCTTGCATTTCCTAGGCTAAGATTCACCAAATAATCTTCAAAAGTCATTCCACCTCCATCAGCAGGGTATTGGGGTCCCAGTTGTTCTGTGTAACCATAGAAAGGTTTTCTAATAGATGTGAAATGGTTTTGGTTTGCATGCCTCTTTTACTGTTTCCATTTTCTTGGTCATTCGTGTTTCTTCTTTGGATGACTTATTTGTTATTTACCCATTTTTTTCTTTTTCCTTCTTTTTTTTTTCTGAGACAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTTTTGCCTCAGCACCCCTGTAGCTGAGATTACAGGTGCACACCATCACCCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCGAGCTGGTCTCGAATTCCTGACCTCAGGTGATCTACCTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGTATGAACCACTGTGCCTGGCTCATTTTTTCTTTTTCATTGCAGTTTTAAAAATATTGATATTGATCCTCAATCCATTATATGTAATTATAAATACATATGTGAATATAGAAATACATATTTTTGCTAAATGATTTGAGAATGAGTTGCAGACATAATACATCACTTATAAATATTTCATTATGAATCTCCTAAGAACAGCATTCTCCTACATAATCACAAATTTATCACGCTCGGGGAATTTAACACTTACAAAATACTTCTGTCTAATACATAGTTAATAATGTTTATAATTGTTTATATTTCCTAAATCCAGGACCCAGTCAAGGTTTATATAGTGCATTTAGCTCTCATGTCTCTATTCTCCTTTGGTGTAGAATAGTTCCTCCATGTTTTGTGTTTTTTTTCTTGTGATATTAGTATTTTCAATGAGTTGAACAGCTGCTTTGCAGAGTTTCTCCCTAAATTTAGATTTGTCTGATAATTTTCTCATCAGTAAATTTAGGACAAGCATTTCTGACAGGACTAGTACACGGGTGGGGCTGTTTTTTTTCAGTACCTCATATTAGGTTTTATTTATTTTTTTCAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTGGGTTCAAGCAATTCTCCTGACTCCCAAGTAGCTGGGACTACAGGTGACACCACCACGCCAGACTAATTTTTGCATTTTTAGTAGAAACGAGATTTCACCATATTGATCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACCGGCATGAGCCACCCACGCCCAGCCTCAGTACTTCATGAGGTTTTAGATGTTCATTGCCTGTTGTTGGTTTCCATATAAATATTAGAATTAACTGCAAAGTCATACAAGAAACCTTGCCAAGATTTTGATTGGAATTGATTTCTATCTAGAGATTACTTGCATCTCTTTATTAGACTTATTCCTAGGAGACGGACATGGTGGCCCACACCTGGAATCCCAGCTACTTAGGAGGCTGAGGCAGGATTACTTGAACCCAGGAGGTTAAGGCTGGAGTGAGCTATGATCCATTACTGCATTCCAGCCTTGGTGACAGAGGGAAAAAATAAATAAATAAATAAATATTTAAATCAATTTATTTCTAAGTACCTTATATTTTCTGTGACATATAAATCTTTTGTATTTAAAGGTTTGTTTTGTTTTTATGGTAAATGGTACCTTTGTAAAAATTACACTTTCTAGCTATTTGTGGCTAGAGATTACTTATGATTTATATTATTTCCAGTAGTTCCTTTTTTATAAACTATATTTTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTTTCACTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCACTCTCCTGCCTCAGCCTCCCGAGTAGCTGGACTACAGGCGCCCGCCACCACAACTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCCCCTGGCCTAAATTTTATTTATATTATTTGAAACTTAAGACAGATAATGACATACAGTGAAAAGTCCTCCTCTAACCCCTAACCCTGGCCATCTGATTCTTTCCATCTGATTCTTTCCAGAGGTAATCAGTGTAACCAGTTTTTTGCATACTCTCCCAGAACTATTTTATATAGATACAAGTAAATCGTGTACTTATATTTTATATATGTTAGCATTAAATAAATGGCAGGCCTAGTAACAGAAATAAAAGTCACATGGAAGGACTATTGTAGGAAGGACAGTTTGGTTTCATAATCAGATGTTTGTAATGATTATAATGTAATAACTTCACAAACACTCAGGAAAAAGCAAATTATTTAATGGAAAATTCCAAAATACATGAGAGCCATTTCCATTCAATATACTTTGTTACAACAATTCCATGTACTTCCAAAATCAGATGCTTTGTAGACTAGCTTGGCAACATGGTGAAGCCCTGTCTCTACAAAAAATCAGCTGGGCATGGTGGCATGTGCCTGTAGTTTCAGCCACCTGGGAGGATGAGGTTGGGGGGTCACCTAAGCCTGAGAAGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAAACAAAACCCAGCAAGACCCCAGTCTTTTAACTTGTGAAGCCCCTTTACTCGTCTTTCAGCGCATACAGCACATCATCCTGGCTGACGTTGAGCCGCACCCGAAGGAGCAGATCGTTCCTGCTGGGCTCCACAAGCAGGAGGCGACAGGAGCCCAGGTGAGAACACACGGCCATGGTCTCTGACATGGTGGGGTACGGCAGTCCCTCCATTCTGCACAGTGCCACATGTTGACTATATATCTAGACACAAATAGCAAGGCAAAGGTTAAGAGGAAATACAATCCTGGGGCTTTTTCTGTTCCTTTCTTTCTTCATTTGGGAAAATCAGACACATGGCCCCCAGGATATCAAACACTCCAGAAGGCATCAGTTGGTGCCCCAGTGGTACACAAAATGCAGAGGCAGAATGGAATGCTAGCCTTGGAATCAGAAAACAGCAGGCCCGAATCCTGGTGCTACCATTTACCTAAATATGTAGACCTGGCCAA	T	Pathogenic	NM_001190818.1(ORC1):c.2392-249_*3804del	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/1173067	1173067	001527374	1162237	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs869312969	52839048	52839048	1p32.3	C	A	Likely pathogenic	NM_004153.4(ORC1):c.2392-1G>T	ORC1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/225109	225109	000210696	226884	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52841174	52841174	1p32.3	GC	G	Pathogenic	NM_004153.4(ORC1):c.2231del (p.Gly744fs)	ORC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1069550	1069550	001381448	1058778	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52841228	52841229	1p32.3	C	CAGAT	Pathogenic	NM_004153.4(ORC1):c.2173_2176dup (p.Cys726fs)	ORC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2090381	2090381	003020882	2152164	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs387906828	52841246	52841246	1p32.3	C	T	Likely pathogenic	NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)	ORC1	Meier-Gorlin syndrome 1|not provided	224690|NA	2554|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/30233	30233	000023157|001818177	39189	criteria provided, multiple submitters, no conflicts
rs269316	chr1	52635933	53635933	rs1557573504	52849105	52849106	1p32.3	AC	T	Pathogenic	NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs)	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/30234	30234	000023158	39190	no assertion criteria provided
rs269316	chr1	52635933	53635933	NA	52849240	52849240	1p32.3	A	G	Pathogenic	NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro)	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/1173052	1173052	001527357	1162238	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52849242	52849242	1p32.3	C	G	Likely pathogenic	NM_004153.4(ORC1):c.1864-1G>C	ORC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2002096	2002096	002820135	2051442	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52849610	52849610	1p32.3	C	T	Likely pathogenic	NM_004153.4(ORC1):c.1756-1G>A	ORC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1517600	1517600	002041132	1420502	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs1378348220	52850936	52850936	1p32.3	T	C	Pathogenic	NM_004153.4(ORC1):c.1482-2A>G	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/30235	30235	000023159	39191	no assertion criteria provided
rs269316	chr1	52635933	53635933	rs1647138135	52851622	52851622	1p32.3	C	G	Likely pathogenic	NM_004153.4(ORC1):c.1384-1G>C	ORC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/942210	942210	001212151	939821	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52854167	52854167	1p32.3	G	A	Pathogenic	NM_004153.4(ORC1):c.1330C>T (p.Arg444Ter)	ORC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075855	1075855	001389554	1058779	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs869312957	52861717	52861717	1p32.3	C	G	Likely pathogenic	NM_004153.4(ORC1):c.721+1G>C	ORC1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/225082	225082	000210711	226885	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52861747	52861747	1p32.3	TG	T	Likely pathogenic	NM_004153.4(ORC1):c.692del (p.Pro231fs)	ORC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1049641	1049641	001355998	1037041	no assertion criteria provided
rs269316	chr1	52635933	53635933	NA	52861750	52861751	1p32.3	G	GT	Likely pathogenic	NM_004153.4(ORC1):c.688dup (p.Thr230fs)	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/2441664	2441664	003147896	2415380	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52862038	52862038	1p32.3	T	G	Pathogenic	NM_004153.4(ORC1):c.403-2A>C	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323388	1323388	001784771	1313673	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs387906826	52863379	52863379	1p32.3	T	C	Pathogenic	NM_004153.4(ORC1):c.380A>G (p.Glu127Gly)	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/30230	30230	000023154	39186	no assertion criteria provided
rs269316	chr1	52635933	53635933	rs143141689	52863445	52863445	1p32.3	C	T	Pathogenic/Likely pathogenic	NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)	ORC1	Meier-Gorlin syndrome 1|Meier-Gorlin syndrome|not provided	224690|NA|NA	2554|2554|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/30232	30232	000023156|000302017|001382828	39188	criteria provided, multiple submitters, no conflicts
rs269316	chr1	52635933	53635933	NA	52863446	52863446	1p32.3	G	A	Likely pathogenic	NM_004153.4(ORC1):c.313C>T (p.Arg105Trp)	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/982308	982308	001375044	970423	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52863484	52863484	1p32.3	GA	G	Pathogenic	NM_004153.4(ORC1):c.275del (p.Phe92fs)	ORC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1438201	1438201	001948914	1355054	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs1647490038	52863522	52863522	1p32.3	GA	G	Pathogenic	NM_004153.4(ORC1):c.237del (p.Pro80fs)	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/1034052	1034052	001336638	1019401	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	52867040	52867040	1p32.3	C	T	Pathogenic	NM_004153.4(ORC1):c.217G>A (p.Glu73Lys)	ORC1	Meier-Gorlin syndrome 1	224690	2554	http://www.ncbi.nlm.nih.gov/clinvar/variation/1173068	1173068	001527375	1162239	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs780593265	53153514	53153514	1p32.3	G	A	Likely pathogenic	NM_023077.3(COA7):c.574C>T (p.Arg192Cys)	COA7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/806136	806136	000994002	794695	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs1553254475	53153537	53153538	1p32.3	A	ATATGACCCAGG	Likely pathogenic	NM_023077.3(COA7):c.540_550dup (p.Ile184fs)	COA7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/806137	806137	000994003	794696	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs1558102448	53153642	53153642	1p32.3	C	A	Pathogenic	NM_023077.3(COA7):c.446G>T (p.Ser149Ile)	COA7	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	618387	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/625459	625459	000767394	613764	no assertion criteria provided
rs269316	chr1	52635933	53635933	rs1558102464	53153657	53153657	1p32.3	AC	A	Pathogenic	NM_023077.3(COA7):c.431del (p.Gly144fs)	COA7	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	618387	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/625461	625461	000767396	613766	no assertion criteria provided
rs269316	chr1	52635933	53635933	rs961876891	53153678	53153678	1p32.3	T	C	Pathogenic	NM_023077.3(COA7):c.410A>G (p.Tyr137Cys)	COA7	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	618387	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/438350	438350	000505269	431981	no assertion criteria provided
rs269316	chr1	52635933	53635933	rs1197945739	53158398	53158398	1p32.3	C	A	Pathogenic	NM_023077.3(COA7):c.247+1G>T	COA7	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	618387	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/438351	438351	000505271	431982	no assertion criteria provided
rs269316	chr1	52635933	53635933	NA	53158541	53158541	1p32.3	T	C	Likely pathogenic	NM_023077.3(COA7):c.107-2A>G	COA7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1335810	1335810	001815995	1326778	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53163902	53163902	1p32.3	TC	T	Likely pathogenic	NM_023077.3(COA7):c.97del (p.Asp33fs)	COA7	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	618387	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2585171	2585171	003337787	2752733	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs780572767	53163982	53163982	1p32.3	T	C	Pathogenic	NM_023077.3(COA7):c.17A>G (p.Asp6Gly)	COA7	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	618387	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/625460	625460	000767395	613765	no assertion criteria provided
rs269316	chr1	52635933	53635933	NA	53237123	53237123	1p32.3	C	T	Likely pathogenic	NM_024646.3(ZYG11B):c.628C>T (p.Arg210Ter)	ZYG11B	Goldenhar syndrome	164210	374	http://www.ncbi.nlm.nih.gov/clinvar/variation/1691311	1691311	002254409	1683790	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53407448	53407545	1p32.3	NA	NA	Pathogenic	NC_000001.10:g.(?_53407448)_(53407545_?)del	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2424590	2424590	003113171	1949667	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53407448	53446235	1p32.3	NA	NA	Pathogenic	NC_000001.10:g.(?_53407448)_(53446235_?)del	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2424591	2424591	003113172	1949668	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53407499	53407500	1p32.3	A	ACTACCCTGACTTGGCAGAAGAAG	Pathogenic	NM_002979.5(SCP2):c.103_125dup (p.Gly43fs)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1374591	1374591	001883150	1453560	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53407527	53407527	1p32.3	T	C	Likely pathogenic	NM_002979.5(SCP2):c.127+2T>C	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2155314	2155314	003083849	1882882	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53416451	53416454	1p32.3	GCTAT	G	Pathogenic	NM_002979.5(SCP2):c.229_232del (p.Tyr77fs)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2059273	2059273	002952712	2117132	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53416537	53416538	1p32.3	G	GC	Pathogenic	NM_002979.5(SCP2):c.313dup (p.Arg105fs)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2007648	2007648	002842466	2073309	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53416552	53416552	1p32.3	C	T	Pathogenic	NM_002979.5(SCP2):c.325C>T (p.Gln109Ter)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1375705	1375705	001871075	1470093	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53427193	53427193	1p32.3	TC	T	Pathogenic	NM_002979.5(SCP2):c.417del (p.Thr140fs)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2035627	2035627	002890167	2097411	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53427259	53427259	1p32.3	C	T	Pathogenic	NM_002979.5(SCP2):c.481C>T (p.Gln161Ter)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451680	1451680	002007348	1426080	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs1572119109	53440462	53440463	1p32.3	C	CA	Pathogenic	NM_002979.5(SCP2):c.550dup (p.Ile184fs)	SCP2	Sterol carrier protein 2 deficiency|not provided	613724|NA	163684|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12810	12810	000013658|002513018	27849	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53442353	53442354	1p32.3	A	AG	Pathogenic/Likely pathogenic	NM_002979.5(SCP2):c.588dup	SCP2	not provided|Sterol carrier protein 2 deficiency	NA|613724	NA|163684	http://www.ncbi.nlm.nih.gov/clinvar/variation/1911686	1911686	002578646|003387544	1973199	criteria provided, multiple submitters, no conflicts
rs269316	chr1	52635933	53635933	NA	53443888	53443888	1p32.3	G	C	Likely pathogenic	NM_002979.5(SCP2):c.675-1G>C	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1953544	1953544	002714814	2011104	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53443897	53443897	1p32.3	C	G	Pathogenic	NM_002979.5(SCP2):c.683C>G (p.Ser228Ter)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1992758	1992758	002796164	2059279	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs144132787	53444040	53444040	1p32.3	G	T	Pathogenic/Likely pathogenic	NM_002979.5(SCP2):c.825+1G>T	SCP2	Sterol carrier protein 2 deficiency|not provided|SCP2-related condition	613724|NA|NA	163684|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/488590	488590	000578448|001860007|003409851	481458	criteria provided, multiple submitters, no conflicts
rs269316	chr1	52635933	53635933	NA	53446079	53446080	1p32.3	T	TA	Pathogenic	NM_002979.5(SCP2):c.838dup (p.Met280fs)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1400862	1400862	001911528	1463714	criteria provided, single submitter
rs269316	chr1	52635933	53635933	NA	53480561	53480561	1p32.3	G	C	Likely pathogenic	NM_002979.5(SCP2):c.1082-1G>C	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1483963	1483963	002028172	1458745	criteria provided, single submitter
rs269316	chr1	52635933	53635933	rs369561869	53480591	53480591	1p32.3	C	T	Pathogenic	NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter)	SCP2	Sterol carrier protein 2 deficiency|not provided	613724|NA	163684|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1033966	1033966	001336527|001871890	1019402	criteria provided, multiple submitters, no conflicts
rs269316	chr1	52635933	53635933	NA	53480649	53480650	1p32.3	A	AT	Pathogenic	NM_002979.5(SCP2):c.1170dup (p.Asn391Ter)	SCP2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2045377	2045377	002900506	2103269	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	111145905	114454813	1p13.3-13.2	NA	NA	Pathogenic	NC_000001.10:g.(?_111145905)_(114454813_?)del	SLC16A1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2424614	2424614	003113195	1949690	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	112318699	115576848	1p13.2	NA	NA	Pathogenic	NC_000001.10:g.(?_112318699)_(115576848_?)del	AP4B1	Hereditary spastic paraplegia 47	614066	280763	http://www.ncbi.nlm.nih.gov/clinvar/variation/2425617	2425617	003109541	1939625	criteria provided, single submitter
rs773607	chr1	113314074	114314074	rs1570619302	113459949	113459949	1p13.2	CG	C	Likely pathogenic	NM_003051.4(SLC16A1):c.1079del (p.Ala360fs)	SLC16A1	Ketoacidosis due to monocarboxylate transporter-1 deficiency	616095	438075	http://www.ncbi.nlm.nih.gov/clinvar/variation/800884	800884	000985073	788722	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs606231310	113460046	113460046	1p13.2	G	A	Pathogenic	NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter)	SLC16A1	Monocarboxylate transporter 1 deficiency, autosomal recessive|Exercise-induced hyperinsulinism	NA|610021	NA|165991	http://www.ncbi.nlm.nih.gov/clinvar/variation/160370	160370	000148037|000986394	170214	criteria provided, single submitter
rs773607	chr1	113314074	114314074	rs606231302	113460090	113460090	1p13.2	C	T	Pathogenic	NM_003051.4(SLC16A1):c.938G>A (p.Arg313Gln)	SLC16A1	Monocarboxylate transporter 1 deficiency, autosomal dominant	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/158085	158085	000145414	167936	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs606231299	113460091	113460091	1p13.2	G	A	Pathogenic	NM_003051.4(SLC16A1):c.937C>T (p.Arg313Ter)	SLC16A1;SLC16A1-AS1	Monocarboxylate transporter 1 deficiency, autosomal recessive|Ketoacidosis due to monocarboxylate transporter-1 deficiency	NA|616095	NA|438075	http://www.ncbi.nlm.nih.gov/clinvar/variation/158079	158079	000145408|002283458	167927	criteria provided, multiple submitters, no conflicts
rs773607	chr1	113314074	114314074	rs606231311	113460278	113460281	1p13.2	GATTA	G	Pathogenic/Likely pathogenic	NM_003051.4(SLC16A1):c.747_750del (p.Asn250fs)	SLC16A1	Monocarboxylate transporter 1 deficiency, autosomal dominant|Metabolic myopathy due to lactate transporter defect|not provided|Ketoacidosis due to monocarboxylate transporter-1 deficiency	NA|245340|NA|616095	NA|171690|NA|438075	http://www.ncbi.nlm.nih.gov/clinvar/variation/160371	160371	000148038|001542540|002291572|003114292	170215	criteria provided, multiple submitters, no conflicts
rs773607	chr1	113314074	114314074	NA	113460301	113460301	1p13.2	G	A	Likely pathogenic	NM_003051.4(SLC16A1):c.727C>T (p.Arg243Ter)	SLC16A1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325075	1325075	001783752	1315337	criteria provided, single submitter
rs773607	chr1	113314074	114314074	rs606231300	113460442	113460442	1p13.2	G	A	Pathogenic	NM_003051.4(SLC16A1):c.586C>T (p.Arg196Ter)	SLC16A1	Monocarboxylate transporter 1 deficiency, autosomal dominant	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/158081	158081	000145410	167930	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs606231301	113460529	113460529	1p13.2	AC	A	Likely pathogenic	NM_003051.4(SLC16A1):c.499del (p.Val167fs)	SLC16A1	Monocarboxylate transporter 1 deficiency, autosomal dominant|not provided	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/158083	158083	000145412|003156227	167933	criteria provided, single submitter
rs773607	chr1	113314074	114314074	rs606231312	113460537	113460538	1p13.2	A	AG	Likely pathogenic	NM_003051.4(SLC16A1):c.490dup (p.Leu164fs)	SLC16A1	Monocarboxylate transporter 1 deficiency, autosomal dominant|not provided	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/160372	160372	000148039|002284366	170216	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	113460601	113460601	1p13.2	G	A	Pathogenic	NM_003051.4(SLC16A1):c.427C>T (p.Arg143Ter)	SLC16A1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2077604	2077604	002976584	2141988	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	113464634	113464634	1p13.2	G	T	Pathogenic	NM_003051.4(SLC16A1):c.339C>A (p.Tyr113Ter)	SLC16A1	SLC16A1-Related Disorders	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2637719	2637719	003405017	2805196	criteria provided, single submitter
rs773607	chr1	113314074	114314074	rs1570623881	113464645	113464645	1p13.2	G	A	Likely pathogenic	NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)	SLC16A1	Exercise-induced hyperinsulinism	610021	165991	http://www.ncbi.nlm.nih.gov/clinvar/variation/827804	827804	001027697	815975	criteria provided, single submitter
rs773607	chr1	113314074	114314074	rs1553208520	113464755	113464755	1p13.2	AC	A	Pathogenic	NM_003051.3(SLC16A1):c.218delG	SLC16A1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/450708	450708	000521338	442585	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	113471890	113471890	1p13.2	TG	T	Likely pathogenic	NM_003051.4(SLC16A1):c.41del (p.Pro14fs)	SLC16A1	Ketoacidosis due to monocarboxylate transporter-1 deficiency	616095	438075	http://www.ncbi.nlm.nih.gov/clinvar/variation/2584348	2584348	003335796	2751914	criteria provided, single submitter
rs773607	chr1	113314074	114314074	rs387906403	113498814	113498814	1p13.2	C	T	Pathogenic	NM_003051.4(SLC16A1):c.-202G>A	SLC16A1	Exercise-induced hyperinsulinism	610021	165991	http://www.ncbi.nlm.nih.gov/clinvar/variation/8916	8916	000009471	23955	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs606231172	113499002	113499003	1p13.2	C	CCCCCACCCCGCCACGTGACCGGCGT	Pathogenic	NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG	SLC16A1	Exercise-induced hyperinsulinism	610021	165991	http://www.ncbi.nlm.nih.gov/clinvar/variation/8917	8917	000009472	23956	no assertion criteria provided
rs773607	chr1	113314074	114314074	NA	113616045	113616045	1p13.2	CT	C	Pathogenic	NM_014813.3(LRIG2):c.17del (p.Leu6fs)	LRIG2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074689	1074689	001388066	1058377	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	113635826	113635826	1p13.2	A	G	Likely pathogenic	NM_014813.3(LRIG2):c.306-2A>G	LRIG2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1065942	1065942	001376796	1054729	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	113636961	113653184	1p13.2	NA	NA	Pathogenic	NC_000001.10:g.(?_113636961)_(113653184_?)del	LRIG2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1072090	1072090	001384710	1056823	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	113638494	113638494	1p13.2	A	C	Pathogenic	NM_014813.3(LRIG2):c.804-2A>C	LRIG2	Global developmental delay	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/977637	977637	001255419	965770	criteria provided, single submitter
rs773607	chr1	113314074	114314074	rs587776945	113642889	113642889	1p13.2	GA	G	Pathogenic	NM_014813.3(LRIG2):c.1230del (p.Glu410fs)	LRIG2	Urofacial syndrome 2	615112	2704	http://www.ncbi.nlm.nih.gov/clinvar/variation/40206	40206	000033224	48693	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs1399525051	113642897	113642897	1p13.2	G	T	Likely pathogenic	NM_014813.3(LRIG2):c.1237G>T (p.Glu413Ter)	LRIG2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/562385	562385	000681849	553569	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs1557914199	113652955	113652955	1p13.2	C	A	Likely pathogenic	NM_014813.3(LRIG2):c.1569C>A (p.Ser523Arg)	LRIG2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/562386	562386	000681850	553570	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs1570764426	113655099	113655100	1p13.2	CAG	C	Likely pathogenic	NC_000001.11:g.113112478GA[1]	LRIG2	Urofacial syndrome 2	615112	2704	http://www.ncbi.nlm.nih.gov/clinvar/variation/666570	666570	000824994	654147	criteria provided, single submitter
rs773607	chr1	113314074	114314074	NA	113655282	113655283	1p13.2	NA	NA	Pathogenic	NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs)	LRIG2	Urofacial syndrome 2	615112	2704	http://www.ncbi.nlm.nih.gov/clinvar/variation/40209	40209	000033227	48696	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs587776947	113657054	113657054	1p13.2	AC	A	Pathogenic	NM_014813.3(LRIG2):c.2088del (p.Ser697fs)	LRIG2	Urofacial syndrome 2	615112	2704	http://www.ncbi.nlm.nih.gov/clinvar/variation/40208	40208	000033226	48695	no assertion criteria provided
rs773607	chr1	113314074	114314074	rs587776946	113657093	113657093	1p13.2	C	T	Pathogenic	NM_014813.3(LRIG2):c.2125C>T (p.Arg709Ter)	LRIG2	Urofacial syndrome 2	615112	2704	http://www.ncbi.nlm.nih.gov/clinvar/variation/40207	40207	000033225	48694	no assertion criteria provided
rs2661302	chr1	162565352	163565352	NA	162722913	162722913	1q23.3	CA	C	Pathogenic	NM_006182.4(DDR2):c.111del (p.Gly38fs)	DDR2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1453437	1453437	002002409	1428719	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	rs397514747	162724565	162724565	1q23.3	G	A	Pathogenic	NM_006182.4(DDR2):c.337G>A (p.Glu113Lys)	DDR2	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome|not provided	271665|NA	93358|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/60759	60759	000054530|001377778	75297	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	rs1571295161	162724571	162724572	1q23.3	G	GC	Likely pathogenic	NM_006182.4(DDR2):c.348dup (p.Met117fs)	DDR2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/818027	818027	001009270	805185	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	rs578015216	162729630	162729630	1q23.3	T	G	Likely pathogenic	NM_006182.4(DDR2):c.716T>G (p.Leu239Arg)	DDR2	Squamous cell lung carcinoma	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/376141	376141	000439780	363020	no assertion criteria provided
rs2661302	chr1	162565352	163565352	rs376303676	162729671	162729671	1q23.3	G	T	Likely pathogenic	NM_006182.4(DDR2):c.757G>T (p.Gly253Cys)	DDR2	Squamous cell lung carcinoma|Non-small cell lung carcinoma	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/376142	376142	000421258|000441392	363021	no assertion criteria provided
rs2661302	chr1	162565352	163565352	NA	162729682	162729682	1q23.3	T	A	Pathogenic	NM_006182.4(DDR2):c.768T>A (p.Tyr256Ter)	DDR2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2108672	2108672	003034278	2170430	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	NA	162731166	162731166	1q23.3	C	T	Pathogenic	NM_006182.4(DDR2):c.1021C>T (p.Arg341Ter)	DDR2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1985374	1985374	002780704	2043226	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	NA	162731190	162731190	1q23.3	C	T	Pathogenic	NM_006182.4(DDR2):c.1045C>T (p.Gln349Ter)	DDR2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2145047	2145047	003071241	1869993	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	NA	162740180	162740180	1q23.3	C	G	Pathogenic	NM_006182.4(DDR2):c.1382C>G (p.Ser461Ter)	DDR2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1052169	1052169	001360301	1039584	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	rs1558079436	162743359	162743359	1q23.3	T	C	Pathogenic	NM_006182.4(DDR2):c.1829T>C (p.Leu610Pro)	DDR2	Warburg-cinotti syndrome	618175	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/587365	587365	000714481	578314	no assertion criteria provided
rs2661302	chr1	162565352	163565352	NA	162745440	162745441	1q23.3	A	AGGAATGATTTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	Pathogenic	NC_000001.11:g.162775664_162775665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAATGATTTTCTT	DDR2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2002559	2002559	002820499	2061783	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	rs1057519789	162745497	162745497	1q23.3	A	T	Likely pathogenic	NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe)	DDR2	Non-small cell lung carcinoma|Squamous cell lung carcinoma	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/376143	376143	000430445|000439136	363022	no assertion criteria provided
rs2661302	chr1	162565352	163565352	rs121964865	162746015	162746015	1q23.3	C	T	Pathogenic	NM_006182.4(DDR2):c.2138C>T (p.Thr713Ile)	DDR2	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	271665	93358	http://www.ncbi.nlm.nih.gov/clinvar/variation/12315	12315	000013108	27354	no assertion criteria provided
rs2661302	chr1	162565352	163565352	NA	162746017	162746017	1q23.3	C	T	Pathogenic	NM_006182.4(DDR2):c.2140C>T (p.Arg714Ter)	DDR2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459807	1459807	001963171	1484995	criteria provided, single submitter
rs2661302	chr1	162565352	163565352	rs121964864	162746054	162746054	1q23.3	T	G	Pathogenic	NM_006182.4(DDR2):c.2177T>G (p.Ile726Arg)	DDR2	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	271665	93358	http://www.ncbi.nlm.nih.gov/clinvar/variation/12314	12314	000013107	27353	no assertion criteria provided
rs2661302	chr1	162565352	163565352	rs121964863	162746131	162746131	1q23.3	C	T	Pathogenic	NM_006182.4(DDR2):c.2254C>T (p.Arg752Cys)	DDR2	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	271665	93358	http://www.ncbi.nlm.nih.gov/clinvar/variation/12313	12313	000013106	27352	no assertion criteria provided
rs2661302	chr1	162565352	163565352	rs1571325076	162746161	162746161	1q23.3	G	A	Pathogenic	NM_006182.4(DDR2):c.2283+1G>A	DDR2	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	271665	93358	http://www.ncbi.nlm.nih.gov/clinvar/variation/12316	12316	000013109	27355	no assertion criteria provided
rs2661302	chr1	162565352	163565352	NA	162748370	162748520	1q23.3	NA	NA	Pathogenic	GRCh37/hg19 1q23.3(chr1:162748370-162748520)	DDR2	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	271665	93358	http://www.ncbi.nlm.nih.gov/clinvar/variation/915984	915984	001195138	904209	no assertion criteria provided
rs2661302	chr1	162565352	163565352	rs267598140	162748390	162748390	1q23.3	T	A	Pathogenic	NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg)	DDR2	Non-small cell lung carcinoma|Squamous cell carcinoma	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375878	375878	000423026|000437846	362757	no assertion criteria provided
rs2661302	chr1	162565352	163565352	rs1057519790	162748407	162748407	1q23.3	G	T	Likely pathogenic	NM_006182.4(DDR2):c.2321G>T (p.Gly774Val)	DDR2	Squamous cell lung carcinoma|Non-small cell lung carcinoma	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/376144	376144	000421396|000440691	363023	no assertion criteria provided
rs2661302	chr1	162565352	163565352	NA	162748409	162748409	1q23.3	G	T	Likely pathogenic	NM_006182.4(DDR2):c.2323G>T (p.Val775Phe)	DDR2	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	271665	93358	http://www.ncbi.nlm.nih.gov/clinvar/variation/1342148	1342148	002279764	1333546	no assertion criteria provided
rs2661302	chr1	162565352	163565352	rs1650773164	163306574	163306574	1q23.3	T	G	Pathogenic	NM_145697.3(NUF2):c.371T>G (p.Ile124Ser)	NUF2	Short stature;Microcephaly|not provided	NA;NA|NA	NA;NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/992629	992629	001281100|001543618	980554	criteria provided, single submitter
rs1342562	chr1	188713892	189713892	NA	188620903	188928487	1q31.1	NA	NA	Pathogenic	GRCh37/hg19 1q31.1(chr1:188620903-188928487)x1	-	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/612637	612637	000749273	603973	no assertion criteria provided
rs1342562	chr1	188713892	189713892	NA	189108008	190570878	1q31.1	NA	NA	Pathogenic	GRCh37/hg19 1q31.1(chr1:189108008-190570878)x1	BRINP3	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/612642	612642	000749278	603978	no assertion criteria provided
rs2903487	chr2	103157	1103157	NA	10501	2386917	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:10501-2386917)x1	PXDN;ACP1;ALKAL2;FAM110C;MYT1L;SH3YL1;SNTG2;TMEM18;TPO	Intellectual disability, autosomal dominant 39	616521	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1330210	1330210	001801227	1320891	criteria provided, single submitter
rs2903487	chr2	103157	1103157	NA	12770	2348876	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:12770-2348876)x1	ACP1;ALKAL2;FAM110C;MYT1L;PXDN;SH3YL1;SNTG2;TMEM18;TPO	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/688279	688279	000848970	675871	no assertion criteria provided
rs2903487	chr2	103157	1103157	NA	12770	2832894	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:12770-2832894)x1	ACP1;ALKAL2;FAM110C;MYT1L;PXDN;SH3YL1;SNTG2;TMEM18;TPO	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/686001	686001	000846709	673593	no assertion criteria provided
rs2903487	chr2	103157	1103157	NA	12770	3000954	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:12770-3000954)x1	ALKAL2;MYT1L;FAM110C;SH3YL1;PXDN;ACP1;SNTG2;TPO;TMEM18	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/814206	814206	001005218	802419	no assertion criteria provided
rs2903487	chr2	103157	1103157	NA	12771	1947832	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:12771-1947832)x1	ACP1;ALKAL2;FAM110C;MYT1L;PXDN;SH3YL1;SNTG2;TMEM18;TPO	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1808728	1808728	002474573	1865732	criteria provided, single submitter
rs2903487	chr2	103157	1103157	NA	528352	2564992	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:528352-2564992)	MYT1L;PXDN;SNTG2;TMEM18;TPO	not specified	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527726	1527726	002053012	1519215	criteria provided, single submitter
rs2903487	chr2	103157	1103157	rs6548238	634905	634905	2p25.3	T	C	risk factor	NC_000002.12:g.634905T>C	-	Obesity	NA	71529	http://www.ncbi.nlm.nih.gov/clinvar/variation/812169	812169	001007461	800415	no assertion criteria provided
rs2903487	chr2	103157	1103157	NA	637829	1945590	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:637829-1945590)	MYT1L;PXDN;SNTG2;TMEM18;TPO	not specified	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527737	1527737	002053023	1519226	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	12770	2832894	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:12770-2832894)x1	ACP1;ALKAL2;FAM110C;MYT1L;PXDN;SH3YL1;SNTG2;TMEM18;TPO	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/686001	686001	000846709	673593	no assertion criteria provided
rs6707984	chr2	2545791	3545791	NA	12770	3000954	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:12770-3000954)x1	ALKAL2;MYT1L;FAM110C;SH3YL1;PXDN;ACP1;SNTG2;TPO;TMEM18	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/814206	814206	001005218	802419	no assertion criteria provided
rs6707984	chr2	2545791	3545791	NA	528352	2564992	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:528352-2564992)	MYT1L;PXDN;SNTG2;TMEM18;TPO	not specified	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527726	1527726	002053012	1519215	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	2033726	2832894	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:2033726-2832894)x1	MYT1L	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/685325	685325	000846033	672917	no assertion criteria provided
rs6707984	chr2	2545791	3545791	NA	2074335	3934366	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:2074335-3934366)x3	ADI1;ALLC;COLEC11;DCDC2C;EIPR1;MYT1L;RNASEH1;RPS7;TRAPPC12	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/980458	980458	001259634	968536	no assertion criteria provided
rs6707984	chr2	2545791	3545791	NA	3385474	3418641	2p25.3	NA	NA	Pathogenic	GRCh37/hg19 2p25.3(chr2:3385474-3418641)x1	TRAPPC12	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/688945	688945	000849636	676537	no assertion criteria provided
rs6707984	chr2	2545791	3545791	NA	3391395	3428454	2p25.3	NA	NA	Pathogenic	NC_000002.11:g.(?_3391395)_(3428454_?)del	TRAPPC12	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2424126	2424126	003107359	1939283	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	3391445	3391445	2p25.3	AC	A	Likely pathogenic	NM_016030.6(TRAPPC12):c.56del (p.Pro19fs)	TRAPPC12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	617669	500144	http://www.ncbi.nlm.nih.gov/clinvar/variation/2584443	2584443	003335883	2752006	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	rs1553309983	3391539	3391539	2p25.3	CG	C	Likely pathogenic	NM_016030.6(TRAPPC12):c.145del (p.Glu49fs)	TRAPPC12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	617669	500144	http://www.ncbi.nlm.nih.gov/clinvar/variation/438738	438738	000505545	432365	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	3391586	3391587	2p25.3	AAC	A	Likely pathogenic	NM_016030.6(TRAPPC12):c.195_196del (p.Met66fs)	TRAPPC12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	617669	500144	http://www.ncbi.nlm.nih.gov/clinvar/variation/2585068	2585068	003340968	2752630	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	rs1135401749	3391749	3391750	2p25.3	G	GC	Pathogenic	NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs)	TRAPPC12	Progressive childhood encephalopathy|Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	NA|617669	NA|500144	http://www.ncbi.nlm.nih.gov/clinvar/variation/430822	430822	000496091|000505613	424366	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	rs371884821	3391755	3391755	2p25.3	G	T	Likely pathogenic	NM_016030.6(TRAPPC12):c.361G>T (p.Glu121Ter)	TRAPPC12	Severe hydrocephalus	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1027666	1027666	001328497	1015415	no assertion criteria provided
rs6707984	chr2	2545791	3545791	NA	3391839	3391839	2p25.3	C	T	Pathogenic	NM_016030.6(TRAPPC12):c.445C>T (p.Gln149Ter)	TRAPPC12	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2467995	2467995	003202161	2448081	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	3392070	3392071	2p25.3	T	TC	Pathogenic	NM_016030.6(TRAPPC12):c.678dup (p.Phe227fs)	TRAPPC12	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2340793	2340793	002950721	2323192	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	3392244	3392244	2p25.3	C	T	Likely pathogenic	NM_016030.6(TRAPPC12):c.850C>T (p.Gln284Ter)	TRAPPC12	TRAPPC12-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2636361	2636361	003402925	2804564	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	3405627	3405627	2p25.3	C	G	Pathogenic	NM_016030.6(TRAPPC12):c.1127C>G (p.Ser376Ter)	TRAPPC12	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2008693	2008693	002828803	2066643	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	rs369187357	3447663	3447663	2p25.3	G	A	Likely pathogenic	NM_016030.6(TRAPPC12):c.1530+1G>A	TRAPPC12	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/985642	985642	001266656	973302	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	rs375354960	3464033	3464033	2p25.3	G	T	Likely pathogenic	NM_016030.6(TRAPPC12):c.1604-1G>T	TRAPPC12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	617669	500144	http://www.ncbi.nlm.nih.gov/clinvar/variation/1029569	1029569	001330896	1016064	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	3464112	3464112	2p25.3	G	A	Pathogenic	NM_016030.6(TRAPPC12):c.1677+5G>A	TRAPPC12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|not provided	617669|NA	500144|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1710180	1710180	002291107|003097793	1708574	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	3469366	3469366	2p25.3	A	G	Likely pathogenic	NM_016030.6(TRAPPC12):c.1678-2A>G	TRAPPC12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	617669	500144	http://www.ncbi.nlm.nih.gov/clinvar/variation/2585067	2585067	003340967	2752629	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	NA	3469482	3469482	2p25.3	C	A	Pathogenic	NM_016030.6(TRAPPC12):c.1776+16C>A	TRAPPC12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	617669	500144	http://www.ncbi.nlm.nih.gov/clinvar/variation/1679937	1679937	002227924	1671851	criteria provided, single submitter
rs6707984	chr2	2545791	3545791	rs768950892	3482619	3482619	2p25.3	C	T	Pathogenic/Likely pathogenic	NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)	TRAPPC12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|Progressive childhood encephalopathy|Inborn genetic diseases	617669|NA|NA	500144|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/430823	430823	000505655|000496094|001266657	424367	criteria provided, multiple submitters, no conflicts
rs6707984	chr2	2545791	3545791	rs1572217664	3482708	3482708	2p25.3	A	G	Likely pathogenic	NM_016030.6(TRAPPC12):c.1965+4A>G	TRAPPC12;TRAPPC12-AS1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/808661	808661	000997025	795232	criteria provided, single submitter
rs4670637	chr2	36664857	37664857	rs1667163007	37229716	37229716	2p22.2	C	T	Likely pathogenic	NM_019024.3(HEATR5B):c.5051-1G>A	HEATR5B	HEATR5B-associated Pontocerebellar hypoplasia|Congenital pontocerebellar hypoplasia	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/992892	992892	001281665|001849498	980829	criteria provided, single submitter
rs4670637	chr2	36664857	37664857	rs1667224478	37230681	37230681	2p22.2	T	C	Likely pathogenic	NM_019024.3(HEATR5B):c.5050+4A>G	HEATR5B	HEATR5B-associated Pontocerebellar hypoplasia|Congenital pontocerebellar hypoplasia	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/992893	992893	001281666|001849499	980830	criteria provided, single submitter
rs4670637	chr2	36664857	37664857	NA	37289163	37289163	2p22.2	G	A	Likely pathogenic	NM_019024.3(HEATR5B):c.1615C>T (p.Arg539Ter)	HEATR5B	Neurological syndrome with pontocerebellar hypoplasia	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2429105	2429105	003123346	2402540	criteria provided, single submitter
rs4670637	chr2	36664857	37664857	NA	37334416	39347563	2p22.2-22.1	NA	NA	Pathogenic	NC_000002.11:g.(?_37334416)_(39347563_?)dup	SOS1	RASopathy	NA	536391	http://www.ncbi.nlm.nih.gov/clinvar/variation/2425393	2425393	003116408	1943119	criteria provided, single submitter
rs4670637	chr2	36664857	37664857	NA	37366838	37366838	2p22.2	T	C	Likely pathogenic	NM_001135651.3(EIF2AK2):c.452A>G (p.Gln151Arg)	EIF2AK2	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	618877	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1174083	1174083	001527613	1163181	no assertion criteria provided
rs4670637	chr2	36664857	37664857	NA	37368697	37368697	2p22.2	C	G	Likely pathogenic	NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg)	EIF2AK2	Dystonia 33	619687	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1332910	1332910	001807544	1323640	criteria provided, single submitter
rs4670637	chr2	36664857	37664857	NA	37368697	37368697	2p22.2	C	T	Pathogenic/Likely pathogenic	NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg)	EIF2AK2	Dystonia 33	619687	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1332908	1332908	001807542	1323638	criteria provided, multiple submitters, no conflicts
rs4670637	chr2	36664857	37664857	rs1553354119	37459288	37459292	2p22.2	GGGAAT	G	Likely pathogenic	NM_144736.5(NDUFAF7):c.96_100del (p.Asn33fs)	NDUFAF7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/503927	503927	000598866	495421	criteria provided, single submitter
rs4670637	chr2	36664857	37664857	rs750543865	37469799	37469799	2p22.2	A	G	Likely pathogenic	NM_144736.5(NDUFAF7):c.644A>G (p.His215Arg)	NDUFAF7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/418380	418380	000485664	405727	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	236403331	242801596	2q37.2-37.3	NA	NA	Pathogenic	NC_000002.11:g.(?_236403331)_(242801596_?)del	COL6A3	Bethlem myopathy 1	158810	610	http://www.ncbi.nlm.nih.gov/clinvar/variation/2425085	2425085	003113452	1946147	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2975760	241531163	241531163	2q37.3	T	C	risk factor	NM_023083.4(CAPN10):c.471-187T>C	CAPN10	Polycystic ovary syndrome, susceptibility to|Type 2 diabetes mellitus 1, susceptibility to	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5096	5096	000005402|001799499	20135	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs3792267	241531174	241531174	2q37.3	G	A	risk factor	NM_023083.4(CAPN10):c.471-176G>A	CAPN10	Type 2 diabetes mellitus 1, susceptibility to	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5093	5093	001799496	20132	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs1559425580	241533964	241533965	2q37.3	G	GAAGGGTGGAGCCAGGTAGATGC	Pathogenic	NM_023083.4(CAPN10):c.837_858dup (p.Ala287fs)	CAPN10	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/984989	984989	001265658	973290	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs3842570	241534241	241534242	2q37.3	A	AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT	risk factor	NM_023083.4(CAPN10):c.997+136_998-148dup	CAPN10	Type 2 diabetes mellitus 1, susceptibility to	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5094	5094	001799497	20133	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241534511	241534512	2q37.3	G	GA	Pathogenic	NM_023083.4(CAPN10):c.1070dup (p.Asn357fs)	CAPN10	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074535	1074535	001387864	1059263	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241537815	241537815	2q37.3	G	A	Pathogenic	NM_023083.4(CAPN10):c.1989+1G>A	CAPN10	CAPN10-related disorders	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2500179	2500179	003388180	2523077	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs5030952	241542703	241542703	2q37.3	C	T	risk factor	NC_000002.12:g.240603286C>T	CAPN10	Type 2 diabetes mellitus 1, susceptibility to	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5095	5095	001799498	20134	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241656780	241737170	2q37.3	NA	NA	Pathogenic	NC_000002.11:g.(?_241656780)_(241737170_?)del	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/988993	988993	001391365	976907	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241656781	241737169	2q37.3	NA	NA	Pathogenic	NC_000002.12:g.(?_240717364)_(240797752_?)del	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213;614255;610357	970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/832086	832086	001032604	819147	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs587778798	241657528	241657529	2q37.3	T	TG	Pathogenic	NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs)	KIF1A	Neuropathy, hereditary sensory, type 2C|Neuropathy, hereditary sensory and autonomic, type 2A	614213|201300	970|970	http://www.ncbi.nlm.nih.gov/clinvar/variation/65875	65875	000023086|000056120	76783	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241659198	241659198	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.5014C>T (p.Arg1672Ter)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1937691	1937691	002627731	2000438	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1575514086	241659231	241659231	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.4981C>T (p.Gln1661Ter)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/664959	664959	000823153	629704	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241659345	241659345	2q37.3	T	G	Pathogenic	NM_001244008.2(KIF1A):c.4869-2A>C	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323148	1323148	001783512	1313434	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553624714	241660330	241660330	2q37.3	C	G	Likely pathogenic	NM_001244008.2(KIF1A):c.4868+1G>C	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/532856	532856	000639772	518077	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241661266	241661267	2q37.3	ACT	A	Pathogenic	NM_001244008.2(KIF1A):c.4700_4701del (p.Glu1567fs)	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213;614255;610357	970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/1962714	1962714	002710626	2010361	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241661914	241661914	2q37.3	AG	A	Pathogenic	NM_001244008.2(KIF1A):c.4624del (p.Leu1542fs)	KIF1A	Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C	614255;610357;614213	NA;101010;970	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459290	1459290	001975187	1406417	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241662009	241662009	2q37.3	CG	C	Pathogenic	NM_001244008.2(KIF1A):c.4529del (p.Pro1510fs)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1439490	1439490	001936631	1346018	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1057519240	241662955	241662955	2q37.3	G	A	Likely pathogenic	NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/374775	374775	000415884	361661	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1559477798	241662977	241662977	2q37.3	T	C	Likely pathogenic	NM_001244008.2(KIF1A):c.4319-2A>G	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/574244	574244	000696128	557970	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs572662012	241663432	241663432	2q37.3	G	C	Likely pathogenic	NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/869125	869125	001078154	857366	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241676460	241686758	2q37.3	NA	NA	Pathogenic	NC_000002.11:g.(?_241676460)_(241686758_?)del	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1460332	1460332	001951549	1494035	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs879254106	241676577	241676577	2q37.3	G	A	Likely pathogenic	NM_001244008.2(KIF1A):c.3910C>T (p.Arg1304Ter)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/246113	246113	000235253	244350	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241678977	241678977	2q37.3	GT	G	Likely pathogenic	NM_001244008.2(KIF1A):c.3901+498del	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2502869	2502869	003229527	2667985	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241679060	241679060	2q37.3	G	A	Likely pathogenic	NM_001244008.2(KIF1A):c.3901+415C>T	KIF1A;LOC126806583	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2584675	2584675	003336643	2752238	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241684843	241684843	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.3465+1G>A	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1955838	1955838	002720108	2008662	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241685153	241685153	2q37.3	A	C	Likely pathogenic	NM_001244008.2(KIF1A):c.3374+2T>G	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1513283	1513283	002026094	1472338	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241685582	241685583	2q37.3	A	ACT	Pathogenic	NM_001244008.2(KIF1A):c.3074_3075dup (p.Cys1027fs)	KIF1A	Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9	614213;610357;614255	970;101010;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2105634	2105634	003014971	2166095	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241685585	241685585	2q37.3	TC	T	Pathogenic	NM_001244008.2(KIF1A):c.3073del (p.Glu1025fs)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1320162	1320162	001775335	1310407	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241689965	241700645	2q37.3	NA	NA	Pathogenic	NC_000002.11:g.(241689965_241696735)_(241700261_241700645)del	KIF1A	Spastic paraplegia	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/989080	989080	001391472	976895	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs587778791	241696754	241696754	2q37.3	CA	C	Pathogenic	NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)	KIF1A	Neuropathy, hereditary sensory, type 2C|Neuropathy, hereditary sensory and autonomic, type 2A|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213|201300|614213;614255;610357	970|970|970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/65859	65859	000023085|000056104|000639798	76767	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241697776	241697776	2q37.3	C	T	Pathogenic	NM_001244008.2(KIF1A):c.2582+1G>A	KIF1A	Spastic paraplegia	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/989077	989077	001391469	976927	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241697908	241697908	2q37.3	GA	G	Pathogenic	NM_001244008.2(KIF1A):c.2451del (p.Leu818fs)	KIF1A	Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9	614213;610357;614255	970;101010;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2127421	2127421	003047779	2174959	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241700137	241700137	2q37.3	C	A	Pathogenic	NM_001244008.2(KIF1A):c.2389G>T (p.Glu797Ter)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451452	1451452	002007228	1425854	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1327297188	241700176	241700176	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|not provided	610357;614213;614255|NA	101010;970;NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/665003	665003	000823204|000997711	629727	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241700255	241700256	2q37.3	ATT	A	Pathogenic	NM_001244008.2(KIF1A):c.2270_2271del (p.Gln757fs)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1456633	1456633	001951242	1454735	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553633687	241702135	241702135	2q37.3	C	G	Likely pathogenic	NM_001244008.2(KIF1A):c.2116+1G>C	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/532854	532854	000639768	518099	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs748477031	241702504	241702504	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.1954C>T (p.Gln652Ter)	KIF1A	Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C	614255;610357;614213	NA;101010;970	http://www.ncbi.nlm.nih.gov/clinvar/variation/568993	568993	000689516	561233	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2050749062	241702638	241702638	2q37.3	G	A	Likely pathogenic	NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/869124	869124	001078153	857365	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241705201	241705202	2q37.3	G	GT	Pathogenic	NM_001244008.2(KIF1A):c.1693dup (p.Thr565fs)	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213;614255;610357	970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/2134284	2134284	003065844	2187003	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241706440	241706440	2q37.3	T	C	Likely pathogenic	NM_001244008.2(KIF1A):c.1578-2A>G	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213;614255;610357	970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/1524644	1524644	002049624	1463118	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1057519164	241706731	241706731	2q37.3	CG	C	Pathogenic	NM_001244008.2(KIF1A):c.1529del (p.Pro510fs)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/374597	374597	000416001	361483	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs879253991	241708570	241708570	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.1477G>A (p.Gly493Ser)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/245898	245898	000235640	244357	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs751051049	241709042	241709042	2q37.3	A	T	Likely pathogenic	NM_001244008.2(KIF1A):c.1421+2T>A	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/532873	532873	000639797	518045	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1575600733	241710514	241710515	2q37.3	A	AT	Pathogenic	NM_001244008.2(KIF1A):c.1214dup (p.Asn405fs)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/807620	807620	000995794	798507	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553635398	241712014	241712014	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.1181-1G>A	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/546892	546892	000658905	537381	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs387907259	241712663	241712663	2q37.3	G	A	Likely pathogenic	NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)	KIF1A	Hereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9	610357|614213;610357;614255	101010|970;101010;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/974917	974917	001251223|001879817	963212	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs387907259	241712663	241712663	2q37.3	G	C	Likely pathogenic	NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/37004	37004	000030681	45670	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs879254004	241712671	241712671	2q37.3	T	C	Pathogenic	NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys)	KIF1A	not provided|Hereditary spastic paraplegia 30	NA|610357	NA|101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/245928	245928	000236924|001334229	244359	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241713599	241713599	2q37.3	C	G	Likely pathogenic	NM_001244008.2(KIF1A):c.1037+1G>C	KIF1A	Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C	614255;610357;614213	NA;101010;970	http://www.ncbi.nlm.nih.gov/clinvar/variation/1467822	1467822	001968688	1462204	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241713606	241713606	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Intellectual disability, autosomal dominant 9	610357;614213;614255|614255	101010;970;NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1452132	1452132	002035472|002286863	1438890	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241713616	241713616	2q37.3	T	G	Likely pathogenic	NM_001244008.2(KIF1A):c.1021A>C (p.Thr341Pro)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/2504638	2504638	003320401	2669604	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241713624	241713624	2q37.3	T	C	Pathogenic	NM_001244008.2(KIF1A):c.1013A>G (p.Tyr338Cys)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/988992	988992	001391364	976929	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241713636	241713636	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.1001C>T (p.Ala334Val)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/988991	988991	001391363	976930	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241713637	241713637	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.1000G>A (p.Ala334Thr)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/2576565	2576565	003322680	2741462	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241713645	241713646	2q37.3	AA	GG	Pathogenic	NM_001244008.2(KIF1A):c.991_992delinsCC (p.Leu331Pro)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/988990	988990	001391362	976931	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2052422975	241713670	241713670	2q37.3	A	G	Likely pathogenic	NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/974922	974922	001251231	963213	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241715267	241715267	2q37.3	C	G	Likely pathogenic	NM_001244008.2(KIF1A):c.958+1G>C	KIF1A	Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C	614255;610357;614213	NA;101010;970	http://www.ncbi.nlm.nih.gov/clinvar/variation/1472010	1472010	002002790	1385158	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601370	241715280	241715280	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	KIF1A	Intellectual disability, autosomal dominant 9|not provided|Inborn genetic diseases|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Neuropathy, hereditary sensory and autonomic, type 2A|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia	614255|NA|NA|610357;614213;614255|201300|610357|NA	NA|NA|NA|101010;970;NA|970|101010|685	http://www.ncbi.nlm.nih.gov/clinvar/variation/162060	162060	000149482|000374842|000624110|000850514|001197350|001334240|001847781	171771	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs2052660081	241715292	241715292	2q37.3	T	G	Pathogenic	NM_001244008.2(KIF1A):c.934A>C (p.Thr312Pro)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1004912	1004912	001301690	988567	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs879253998	241715301	241715301	2q37.3	A	G	Likely pathogenic	NM_001244008.2(KIF1A):c.925T>C (p.Ser309Pro)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/245914	245914	000236079	244360	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1064793161	241715306	241715306	2q37.3	C	G	Likely pathogenic	NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/869126	869126	001078155	857367	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1064793161	241715306	241715306	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	KIF1A	not provided|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|KIF1A-related condition	NA|614255|610357;614213;614255|NA	NA|NA|101010;970;NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/418275	418275	000480291|000496175|000705000|003419789	405684	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241715307	241715307	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.919C>T (p.Arg307Ter)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454352	1454352	001941826	1366957	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs369692236	241715307	241715307	2q37.3	G	C	Likely pathogenic	NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/435636	435636	000503727	428023	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1131690804	241715312	241715312	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)	KIF1A	Intellectual disability, autosomal dominant 9|not provided|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia	614255|NA|610357;614213;614255|610357|NA	NA|NA|101010;970;NA|101010|685	http://www.ncbi.nlm.nih.gov/clinvar/variation/428604	428604	000492064|000523291|001202708|001391606|001848859	420290	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241722007	241737169	2q37.3	NA	NA	Likely pathogenic	GRCh37/hg19 2q37.3(chr2:241722007-241737169)x1	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2578905	2578905	003327081	2743904	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241722460	241722460	2q37.3	AC	A	Pathogenic	NM_001244008.2(KIF1A):c.864+1del	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451736	1451736	002007375	1426136	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241722484	241722484	2q37.3	C	G	Pathogenic	NM_001244008.2(KIF1A):c.841G>C (p.Val281Leu)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/989196	989196	001391604	976933	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054277617	241722486	241722486	2q37.3	T	C	Likely pathogenic	NM_001244008.2(KIF1A):c.839A>G (p.Lys280Arg)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1032200	1032200	001334239	1019610	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241722490	241722490	2q37.3	C	G	Pathogenic	NM_001244008.2(KIF1A):c.835G>C (p.Gly279Arg)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1801064	1801064	002462661	1858352	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1131692159	241722492	241722492	2q37.3	A	G	Likely pathogenic	NM_001244008.2(KIF1A):c.833T>C (p.Leu278Pro)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/430721	430721	000495842	424260	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs879254017	241722496	241722496	2q37.3	T	G	Likely pathogenic	NM_001244008.2(KIF1A):c.829A>C (p.Thr277Pro)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/245961	245961	000235555	244361	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054279545	241722501	241722501	2q37.3	A	G	Likely pathogenic	NM_001244008.2(KIF1A):c.824T>C (p.Leu275Pro)	KIF1A	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/985565	985565	001266538	973291	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054280202	241722507	241722509	2q37.3	CTTG	C	Pathogenic	NM_001244008.2(KIF1A):c.813CAA[1] (p.Asn272del)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/870127	870127	001089647	858299	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241722508	241722513	2q37.3	TTGTTGA	T	Pathogenic	NM_001244008.2(KIF1A):c.812_817del (p.Ile271_Asn272del)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1711083	1711083	002292370	1709494	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs876661283	241722510	241722510	2q37.3	T	C	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser)	KIF1A	not provided|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	NA|614213;614255;610357	NA|970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/234899	234899	000213797|001854764	231522	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241722513	241722513	2q37.3	A	C	Likely pathogenic	NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1320263	1320263	001775436	1310508	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241722519	241722519	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.806C>A (p.Ala269Asp)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/1803047	1803047	002466344	1860076	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1057518226	241722522	241722522	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.803G>A (p.Gly268Glu)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/373113	373113	000413291	359462	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1575624664	241722523	241722523	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/801918	801918	000987074	790218	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553637932	241722526	241722526	2q37.3	C	G	Pathogenic	NM_001244008.2(KIF1A):c.799G>C (p.Glu267Gln)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/645308	645308	000799366	629738	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241723154	241723154	2q37.3	A	G	Pathogenic	NM_001244008.2(KIF1A):c.798+2T>C	KIF1A	Spastic paraplegia	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/989078	989078	001391470	976935	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241723155	241723155	2q37.3	C	G	Pathogenic	NM_001244008.2(KIF1A):c.798+1G>C	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1709861	1709861	002290203	1708214	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1064796565	241723155	241723155	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.798+1G>A	KIF1A	not provided|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	NA|610357;614213;614255	NA|101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/423668	423668	000484840|001851257	405685	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241723155	241723169	2q37.3	ACCTTGAGGCGCGTGC	A	Pathogenic	NM_001244008.2(KIF1A):c.785_798+1del	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1395436	1395436	001901167	1412449	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553638086	241723181	241723181	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|not provided|Hereditary spastic paraplegia 30|Inborn genetic diseases|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia|Neuropathy, hereditary sensory, type 2C	614213;614255;610357|NA|610357|NA|614255|NA|614213	970;NA;101010|NA|101010|NA|NA|685|970	http://www.ncbi.nlm.nih.gov/clinvar/variation/464261	464261	000548642|001268098|001251233|001266365|001770432|001848939|002289760	450732	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241723181	241723181	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1507070	1507070	002009303	1439481	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs387906798	241723190	241723190	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.764C>T (p.Ala255Val)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/30166	30166	000023084	39122	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241723190	241723190	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30	614213;614255;610357|610357	970;NA;101010|101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/2035801	2035801	002877610|003320393	2093718	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs886041692	241723193	241723193	2q37.3	C	G	Pathogenic	NM_001244008.2(KIF1A):c.761G>C (p.Arg254Pro)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/392042	392042	000432877	367146	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs886041692	241723193	241723193	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)	KIF1A	not provided|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30	NA|610357;614213;614255|614255|610357	NA|101010;970;NA|NA|101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/280500	280500	000326247|000803981|001078149|001808727	264094	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs879253888	241723194	241723194	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)	KIF1A	not provided|Inborn genetic diseases|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory and autonomic, type 2A|Intellectual disability, autosomal dominant 9|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	NA|NA|614213;614255;610357;201300|614255|614213;614255;610357	NA|NA|970;NA;101010;970|NA|970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/245636	245636	000236491|000623278|000763486|000995795|001857794	244362	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241723194	241723194	2q37.3	G	C	Likely pathogenic	NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)	KIF1A	Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C	614255;610357;614213	NA;101010;970	http://www.ncbi.nlm.nih.gov/clinvar/variation/1477424	1477424	001971587	1413608	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241723195	241723195	2q37.3	C	G	Likely pathogenic	NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213;614255;610357	970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/1486265	1486265	002003472	1491366	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601369	241723197	241723197	2q37.3	C	T	Pathogenic	NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)	KIF1A	Intellectual disability, autosomal dominant 9|not provided|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30	614255|NA|614213;614255;610357|610357	NA|NA|970;NA;101010|101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/162059	162059	000149481|000488961|000850486|001813759	171772	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs555641774	241723198	241723198	2q37.3	G	C	Likely pathogenic	NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/974921	974921	001251230	963214	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241723203	241723203	2q37.3	C	T	Pathogenic	NM_001244008.2(KIF1A):c.751G>A (p.Gly251Arg)	KIF1A	Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9	614213;610357;614255	970;101010;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2098196	2098196	003030819	2147052	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1559526692	241723205	241723205	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/580199	580199	000703669	558330	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054374864	241723206	241723206	2q37.3	C	A	Likely pathogenic	NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213;614255;610357	970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/1023002	1023002	001322987	1003861	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601371	241723208	241723208	2q37.3	A	G	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro)	KIF1A	Inborn genetic diseases|not provided	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/986214	986214	001267513|003156334	973292	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs672601371	241723208	241723208	2q37.3	A	T	Likely pathogenic	NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/162061	162061	000149483	171773	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1575626071	241723217	241723217	2q37.3	A	C	Pathogenic	NM_001244008.2(KIF1A):c.737T>G (p.Leu246Arg)	KIF1A	Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C	614255;610357;614213	NA;101010;970	http://www.ncbi.nlm.nih.gov/clinvar/variation/647033	647033	000801438	629739	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241724468	241724468	2q37.3	C	A	Pathogenic	NM_001244008.2(KIF1A):c.658G>T (p.Val220Phe)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/989193	989193	001391600	976937	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241724473	241724473	2q37.3	T	C	Pathogenic	NM_001244008.2(KIF1A):c.653A>G (p.His218Arg)	KIF1A	Neuropathy, hereditary sensory and autonomic, type 2A	201300	970	http://www.ncbi.nlm.nih.gov/clinvar/variation/1685908	1685908	002250075	1677921	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054549834	241724474	241724474	2q37.3	G	A	Likely pathogenic	NM_001244008.2(KIF1A):c.652C>T (p.His218Tyr)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/975719	975719	001252532	963521	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs876661202	241724476	241724476	2q37.3	G	C	Pathogenic	NM_001244008.2(KIF1A):c.650C>G (p.Ser217Cys)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/234758	234758	000215712	231516	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601368	241724479	241724479	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)	KIF1A	PEHO syndrome|Intellectual disability, autosomal dominant 9|not provided|KIF1A-related disorder	260565|614255|NA|NA	2836|NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/208161	208161	000207040|000191021|000997715|003223396	204420	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs797045164	241724480	241724480	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)	KIF1A	Intellectual disability, autosomal dominant 9|PEHO syndrome|Hereditary spastic paraplegia 30|not provided|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Syndromic intellectual disability|Inborn genetic diseases	614255|260565|610357|NA|610357;614213;614255|NA|NA	NA|2836|101010|NA|101010;970;NA|183763|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/208160	208160	000191020|000207243|001255726|001269905|001389787|001796966|002514079	204421	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241724482	241724482	2q37.3	C	T	Pathogenic	NM_001244008.2(KIF1A):c.644G>A (p.Ser215Asn)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/989192	989192	001391599	976938	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601367	241724483	241724483	2q37.3	T	G	Pathogenic	NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)	KIF1A	Intellectual disability, autosomal dominant 9|not provided	614255|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/162057	162057	000149479|001090762	171775	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs1553638309	241724485	241724485	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.641G>A (p.Ser214Asn)	KIF1A	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/521717	521717	000623558	511412	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241724496	241724496	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.630G>A (p.Met210Ile)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/2444114	2444114	003152912	2417847	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241724516	241724517	2q37.3	TC	CTTTT	Likely pathogenic	NM_001244008.2(KIF1A):c.609_610delinsAAAAG (p.Thr204delinsLysAla)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/1027416	1027416	001647139	1015177	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1559527796	241724518	241724518	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.609-1G>A	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/574529	574529	000696483	560549	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601366	241725756	241725756	2q37.3	C	G	Likely pathogenic	NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/162056	162056	000149478	171776	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553638614	241725765	241725765	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg)	KIF1A	not provided|Intellectual disability, autosomal dominant 9	NA|614255	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/449043	449043	000520704|001078151	443215	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs2054752278	241725804	241725804	2q37.3	C	A	Likely pathogenic	NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/974924	974924	001251234	963215	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241725839	241725839	2q37.3	A	G	Pathogenic	NM_001244008.2(KIF1A):c.521T>C (p.Leu174Pro)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/989191	989191	001391598	976939	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054755647	241725842	241725842	2q37.3	A	G	Likely pathogenic	NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/974916	974916	001251220	963216	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs876661180	241725848	241725848	2q37.3	T	G	Pathogenic	NM_001244008.2(KIF1A):c.512A>C (p.His171Pro)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/234716	234716	000223418	231519	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs876661168	241725854	241725854	2q37.3	C	G	Likely pathogenic	NM_001244008.2(KIF1A):c.506G>C (p.Arg169Thr)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/666256	666256	000824681	653809	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs876661168	241725854	241725854	2q37.3	C	T	Pathogenic	NM_001244008.2(KIF1A):c.506G>A (p.Arg169Lys)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/234697	234697	000219284	231525	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054757914	241725860	241725860	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)	KIF1A	Hereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|not provided	610357|614213;614255;610357|NA	101010|970;NA;101010|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/974913	974913	001251216|001879816|002511065	963217	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs672601365	241725861	241725861	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)	KIF1A	Intellectual disability, autosomal dominant 9|not provided|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30	614255|NA|614213;614255;610357|610357	NA|NA|970;NA;101010|101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/162055	162055	000149477|001268733|001323710|001391597	171777	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs1575631836	241725890	241725890	2q37.3	A	G	Likely pathogenic	NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/801919	801919	000987075	790219	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054761091	241725891	241725891	2q37.3	G	A	Likely pathogenic	NM_001244008.2(KIF1A):c.469C>T (p.Leu157Phe)	KIF1A	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/985166	985166	001265930	973293	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241725893	241725893	2q37.3	T	A	Pathogenic	NM_001244008.2(KIF1A):c.467A>T (p.Asp156Val)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1058331	1058331	001367455	1041273	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2054763570	241725916	241725916	2q37.3	C	A	Likely pathogenic	NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/974915	974915	001251218	963218	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241725918	241725918	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.442G>A (p.Glu148Lys)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1319270	1319270	003238576	1309523	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241725920	241725920	2q37.3	A	C	Likely pathogenic	NM_001244008.2(KIF1A):c.440T>G (p.Met147Arg)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1696931	1696931	002267277	1689327	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601364	241725930	241725930	2q37.3	C	A	Likely pathogenic	NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/162054	162054	000149476	171778	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2055064647	241726720	241726720	2q37.3	A	G	Likely pathogenic	NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/984652	984652	001264755	972713	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241727470	241727470	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.361C>T (p.Gln121Ter)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1413300	1413300	001925834	1461342	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1200817308	241727481	241727481	2q37.3	C	A	Pathogenic	NM_001244008.2(KIF1A):c.350G>T (p.Gly117Val)	KIF1A	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/520815	520815	000624693	511413	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2055181124	241727514	241727514	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/974923	974923	001251232	963219	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553639011	241727523	241727523	2q37.3	T	G	Pathogenic	NM_001244008.2(KIF1A):c.308A>C (p.Lys103Thr)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/432272	432272	000497712	425481	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601363	241727526	241727526	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/162053	162053	000149475	171779	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1064795534	241727527	241727527	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)	KIF1A	not provided|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30	NA|610357;614213;614255|610357	NA|101010;970;NA|101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/422067	422067	000487011|000534578|001251229	405686	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241727529	241727529	2q37.3	G	A	Likely pathogenic	NM_001244008.2(KIF1A):c.302C>T (p.Ala101Val)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/2444305	2444305	003153103	2418038	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241727530	241727530	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.301G>A (p.Ala101Thr)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1700774	1700774	002275762	1693167	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs387906799	241727535	241727535	2q37.3	G	A	Pathogenic	NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)	KIF1A	Intellectual disability, autosomal dominant 9|PEHO syndrome|not provided|Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9	614255|260565|NA|614213;610357;614255	NA|2836|NA|970;101010;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/30169	30169	000023087|000207102|000235916|000690609	39125	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241727556	241727556	2q37.3	C	T	Pathogenic	NM_001244008.2(KIF1A):c.275G>A (p.Cys92Tyr)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2578901	2578901	003327077	2743900	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241727565	241727565	2q37.3	T	A	Likely pathogenic	NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213;614255;610357	970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/1987306	1987306	002805730	2043848	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs869312711	241727566	241727566	2q37.3	A	C	Pathogenic	NM_001244008.2(KIF1A):c.265T>G (p.Tyr89Asp)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/224157	224157	000209842	225885	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553639041	241727577	241727577	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.254C>A (p.Ala85Asp)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/432584	432584	000498662	425482	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1575637048	241727598	241727598	2q37.3	C	T	Likely pathogenic	NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/801920	801920	000987076	790220	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241727599	241727599	2q37.3	C	G	Pathogenic	NM_001244008.2(KIF1A):c.232G>C (p.Gly78Arg)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/989190	989190	001391595	976940	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1057518760	241727599	241727599	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)	KIF1A	Clonus;Hyperreflexia;Lower limb hyperreflexia;Spastic paraplegia|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	NA;145290;NA;NA|610357|610357;614213;614255	NA;NA;NA;NA|101010|101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/373905	373905	000414911|001251219|001861441	360839	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs1064796046	241727608	241727609	2q37.3	G	GGTC	Pathogenic	NM_001244008.2(KIF1A):c.222_223insGAC (p.Tyr74_Arg75insAsp)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/422856	422856	000486539	405687	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs786200949	241727625	241727625	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)	KIF1A	Hereditary spastic paraplegia|Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30|not provided	NA|614255;614213;610357|610357|NA	685|NA;970;101010|101010|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/188057	188057	000167867|000693147|001078152|000762334	185949	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241727625	241727625	2q37.3	G	C	Pathogenic	NM_001244008.2(KIF1A):c.206C>G (p.Ser69Trp)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/989188	989188	001391592	976942	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241727630	241727631	2q37.3	G	GT	Pathogenic	NM_001244008.2(KIF1A):c.200dup (p.Tyr67Ter)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2031536	2031536	002867284	2089441	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs672601362	241728663	241728663	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)	KIF1A	Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Inborn genetic diseases|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Neurodevelopmental delay|not provided	614255|610357|NA|614213;614255;610357|NA|NA	NA|101010|NA|970;NA;101010|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/162052	162052	000149474|000987077|001267147|001386834|002273964|002509246	171780	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241728663	241728663	2q37.3	G	C	Likely pathogenic	NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1349128	1349128	002046792	1479139	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2056551129	241737066	241737066	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)	KIF1A	Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C	614255;610357;614213	NA;101010;970	http://www.ncbi.nlm.nih.gov/clinvar/variation/864523	864523	001071735	826104	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241737091	241737091	2q37.3	T	A	Likely pathogenic	NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1505292	1505292	002020498	1414160	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241737091	241737091	2q37.3	T	C	Likely pathogenic	NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)	KIF1A	Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	614213;614255;610357	970;NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/1978199	1978199	002774998	2045170	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241737094	241737094	2q37.3	A	G	Pathogenic	NM_001244008.2(KIF1A):c.76T>C (p.Cys26Arg)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/989187	989187	001391591	976943	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs2056558371	241737130	241737130	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr)	KIF1A	Intellectual disability, autosomal dominant 9	614255	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/974871	974871	001251159	963125	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs797045050	241737132	241737132	2q37.3	C	A	Likely pathogenic	NM_001244008.2(KIF1A):c.38G>T (p.Arg13Leu)	KIF1A	Hereditary spastic paraplegia 30	610357	101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/977818	977818	001255725	965947	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs797045050	241737132	241737132	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)	KIF1A	Spastic paraplegia|not provided|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	NA|NA|610357;614213;614255	NA|NA|101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/209165	209165	000191098|000235418|000639795	205730	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs1064794935	241737133	241737133	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)	KIF1A	not provided|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Intellectual disability, autosomal dominant 9|See cases|Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30	NA|614213;614255;610357|614255|NA|614255;610357	NA|970;NA;101010|NA|NA|NA;101010	http://www.ncbi.nlm.nih.gov/clinvar/variation/426934	426934	000489169|001057550|001250737|001568399|003224875	414882	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs1064794935	241737133	241737133	2q37.3	G	T	Likely pathogenic	NM_001244008.2(KIF1A):c.37C>A (p.Arg13Ser)	KIF1A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/421138	421138	000481549	405688	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1575654528	241737138	241737138	2q37.3	C	A	Likely pathogenic	NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1001813	1001813	001298157	988568	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1575654528	241737138	241737138	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Intellectual disability, autosomal dominant 9|not provided	610357;614213;614255|610357|614255|NA	101010;970;NA|101010|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/654820	654820	000810861|001251221|001332405|003106073	629744	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs548204329	241737139	241737139	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)	KIF1A	Hereditary spastic paraplegia|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Inborn genetic diseases|Hereditary spastic paraplegia 30|not provided	NA|614213;614255;610357|NA|610357|NA	685|970;NA;101010|NA|101010|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/424652	424652	000515907|000639771|001266653|001251222|001310793	411554	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs2056562900	241737160	241737160	2q37.3	GC	G	Pathogenic	NM_001244008.2(KIF1A):c.10del (p.Ala4fs)	KIF1A	Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9	610357;614213;614255	101010;970;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/850864	850864	001055134	826106	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241808162	241813394	2q37.3	NA	NA	Pathogenic	NG_008005.1:g.(?_5001)_(9305_10233)del	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204214	204214	000186421	200414	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808162	241815351	2q37.3	NA	NA	Pathogenic	NG_008005.1:g.(?_5001)_(11460_12190)del	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204215	204215	000186422	200415	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808273	241812476	2q37.3	NA	NA	Pathogenic	NC_000002.11:g.(?_241808273)_(241812476_?)del	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2422155	2422155	003119098	1942189	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241808273	242708241	2q37.3	NA	NA	Pathogenic	NC_000002.11:g.(?_241808273)_(242708241_?)del	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/830538	830538	001031165	819016	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs138584408	241808284	241808284	2q37.3	T	C	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204065	204065	000186271|001061218	200416	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177194	241808284	241808285	2q37.3	TG	AT	Pathogenic	NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204172	204172	000186379|001225511	200417	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177213	241808285	241808285	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.3G>T (p.Met1Ile)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204066	204066	000186272	200418	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs796052057	241808304	241808304	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.22G>C (p.Val8Leu)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204067	204067	000186273	200419	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177201	241808307	241808308	2q37.3	A	AC	Pathogenic	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided|Nephrotic syndrome|AGXT-related condition	259900|NA|NA|NA|NA	416|416|NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/140583	140583	000128800|000779688|000800941|001849312|003415938	150264	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177201	241808308	241808308	2q37.3	AC	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.33del (p.Lys12fs)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/188775	188775	000169102|000794507|001192774	186650	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177201	241808308	241808309	2q37.3	ACC	A	Pathogenic	NM_000030.3(AGXT):c.32_33del (p.Pro11fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204173	204173	000186380	200425	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808308	241808309	2q37.3	C	CA	Pathogenic	NM_000030.3(AGXT):c.26_27insA (p.Lys12fs)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1359036	1359036	001894381	1357313	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177191	241808310	241808310	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.28C>T (p.Pro10Ser)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204068	204068	000186274	200422	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808313	241808314	2q37.3	C	CT	Likely pathogenic	NM_000030.3(AGXT):c.31_32insT (p.Pro11fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1678650	1678650	002225245	1670399	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs34116584	241808314	241808314	2q37.3	C	G	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided	259900|NA|NA	416|416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204069	204069	000186275|001553704|001857587	200424	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs1575707182	241808349	241808349	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.67C>T (p.Gln23Ter)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/654767	654767	000810788	629745	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177262	241808356	241808356	2q37.3	T	G	Pathogenic	NM_000030.3(AGXT):c.74T>G (p.Leu25Arg)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204070	204070	000186276	200428	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177268	241808359	241808359	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.77T>C (p.Leu26Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204071	204071	000186277	200429	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177278	241808364	241808364	2q37.3	GC	G	Pathogenic	NM_000030.3(AGXT):c.83del (p.Pro28fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204174	204174	000186381	200430	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808388	241808388	2q37.3	C	G	Likely pathogenic	NM_000030.3(AGXT):c.106C>G (p.Arg36Gly)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1919327	1919327	002630271	1968313	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177157	241808388	241808388	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/188957	188957	000169332|001054309	186651	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177162	241808389	241808389	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.107G>A (p.Arg36His)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204072	204072	000186278|001383728	200431	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241808389	241808389	2q37.3	G	C	Likely pathogenic	NM_000030.3(AGXT):c.107G>C (p.Arg36Pro)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2088931	2088931	003011885	2148031	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177166	241808397	241808398	2q37.3	G	GCA	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided	259900|NA|NA	416|416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204175	204175	000186382|001175458|001857594	200432	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177171	241808402	241808403	2q37.3	C	CG	Likely pathogenic	NM_000030.3(AGXT):c.126dup (p.Leu43fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/554314	554314	000669926	542041	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177171	241808403	241808403	2q37.3	CG	C	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.126del (p.Leu43fs)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided	259900|NA|NA	416|416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204176	204176	000186383|001174889|001215991	200435	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs121908523	241808403	241808403	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT	Primary hyperoxaluria, type I|Nephrolithiasis;Nephrocalcinosis|not provided|Primary hyperoxaluria	259900|NA;NA|NA|NA	416|NA;NA|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/5644	5644	000005998|000662315|001221086|002509145	20683	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241808403	241808403	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2203295	2203295	002664289	1925524	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177168	241808404	241808404	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.122G>A (p.Gly41Glu)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204073	204073	000186279	200433	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177168	241808404	241808404	2q37.3	G	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/188985	188985	000169364|001386862	186652	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177170	241808407	241808407	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.125G>A (p.Gly42Glu)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204074	204074	000186280	200434	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177172	241808412	241808412	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204075	204075	000186281	200436	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177173	241808421	241808421	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204076	204076	000186282|001067805	200437	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241808421	241808421	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.139G>T (p.Gly47Trp)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1497047	1497047	002019332	1382449	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241808448	241808448	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.165+1G>T	AGXT	Primary hyperoxaluria	NA	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/2503875	2503875	003230866	2668785	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177177	241808586	241808586	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.166-1G>A	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204163	204163	000186370	200447	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs767586362	241808596	241808596	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.175G>A (p.Glu59Lys)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204078	204078	000186284	200449	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808596	241808596	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.175G>T (p.Glu59Ter)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454950	1454950	001939627	1441436	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177181	241808608	241808608	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.187G>C (p.Gly63Arg)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204079	204079	000186285	200450	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs121908521	241808619	241808619	2q37.3	C	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/983726	983726	001263729	971787	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs121908521	241808619	241808619	2q37.3	C	G	Pathogenic	NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/5642	5642	000005996	20681	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177182	241808626	241808626	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.205C>T (p.Gln69Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204080	204080	000186286	200451	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs796052058	241808630	241808630	2q37.3	C	A	Likely pathogenic	NM_000030.3(AGXT):c.209C>A (p.Thr70Asn)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204081	204081	000186287|001857588	200452	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052069	241808634	241808635	2q37.3	G	GA	Pathogenic	NM_000030.3(AGXT):c.215dup (p.Asn72fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204177	204177	000186384	200453	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808635	241808635	2q37.3	A	G	Likely pathogenic	NM_000030.3(AGXT):c.214A>G (p.Asn72Asp)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1490938	1490938	001986165	1512045	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241808636	241808636	2q37.3	A	T	Pathogenic	NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1378865	1378865	001883482	1408056	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177183	241808641	241808642	2q37.3	C	CTCACACT	Likely pathogenic	NM_000030.3(AGXT):c.221_227dup (p.Val77fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204178	204178	000186385	200454	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241808657	241808669	2q37.3	TCTGGCTCGGGACA	T	Likely pathogenic	NM_000030.3(AGXT):c.239_251del (p.Gly80fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1725503	1725503	002309187	1783030	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177184	241808663	241808663	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.242C>A (p.Ser81Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204082	204082	000186288	200455	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177184	241808663	241808663	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204083	204083	000186289|001386863|002271450	200456	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177185	241808665	241808665	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.244G>C (p.Gly82Arg)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204084	204084	000186290|001852424	200457	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs121908522	241808666	241808666	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/5643	5643	000005997|001851685|003234894	20682	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177186	241808669	241808669	2q37.3	A	G	Pathogenic	NM_000030.3(AGXT):c.248A>G (p.His83Arg)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204085	204085	000186291	200458	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs2058978388	241808673	241808673	2q37.3	T	A	Likely pathogenic	NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/983727	983727	001263730	971788	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052059	241808675	241808675	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.254C>A (p.Ala85Asp)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204086	204086	000186292	200459	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808679	241808679	2q37.3	TG	T	Likely pathogenic	NM_000030.3(AGXT):c.259del (p.Glu87fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1726291	1726291	002307262	1783818	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177187	241808697	241808697	2q37.3	AT	A	Pathogenic	NM_000030.3(AGXT):c.276del (p.Asn92fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204179	204179	000186386	200461	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241808700	241808700	2q37.3	TG	T	Likely pathogenic	NM_000030.3(AGXT):c.279del (p.Leu94fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1725601	1725601	002309285	1783128	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177189	241808704	241808704	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.283G>A (p.Glu95Lys)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204087	204087	000186293|001352204	200462	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177195	241808723	241808723	2q37.3	T	C	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/188866	188866	000169219|001850392	186653	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241808726	241808726	2q37.3	T	A	Likely pathogenic	NM_000030.3(AGXT):c.305T>A (p.Val102Asp)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323866	1323866	001785899	1314146	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241808728	241808728	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.307G>A (p.Gly103Arg)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1477898	1477898	001973935	1436776	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177197	241808743	241808743	2q37.3	T	C	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/188891	188891	000169249|000812967	186654	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177198	241808744	241808744	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.323G>A (p.Trp108Ter)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204088	204088	000186294|001384602	200467	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177200	241808744	241808744	2q37.3	TG	T	Pathogenic	NM_000030.3(AGXT):c.327del (p.Gln110fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204182	204182	000186389	200470	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052060	241808745	241808745	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.324G>T (p.Trp108Cys)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204089	204089	000186295	200468	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177199	241808747	241808747	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.326G>T (p.Gly109Val)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204090	204090	000186296	200469	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177202	241808752	241808752	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204091	204091	000186297|001384603|003330550	200471	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177203	241808753	241808753	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204092	204092	000186298|002305454	200472	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs796052061	241808756	241808756	2q37.3	C	A	Likely pathogenic	NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204093	204093	000186299	200473	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177207	241808767	241808767	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	AGXT	Primary hyperoxaluria, type I|not provided|Abnormality of metabolism/homeostasis	259900|NA|NA	416|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/189021	189021	000169408|001236818|001814082	186655	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177208	241808770	241808770	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.349G>T (p.Glu117Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204094	204094	000186300	200474	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs138025751	241808774	241808774	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.353G>A (p.Arg118His)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204096	204096	000186302	200476	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs747043550	241808779	241808779	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/983728	983728	001263731	971789	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052067	241808780	241808780	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.358+1G>T	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204151	204151	000186358	200477	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs113681235	241808781	241808781	2q37.3	T	G	Pathogenic	NM_000030.3(AGXT):c.358+2T>G	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204152	204152	000186359|001384604	200478	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052070	241810057	241810081	2q37.3	CCCAGGAGCCCGAGTGCACCCGATGA	C	Pathogenic	NM_000030.3(AGXT):c.359-1_382del	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204183	204183	000186390	200481	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177210	241810066	241810066	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204097	204097	000186303|000818752	200482	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177211	241810073	241810073	2q37.3	A	C	Pathogenic	NM_000030.3(AGXT):c.371A>C (p.His124Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204098	204098	000186304	200483	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs2058986184	241810073	241810080	2q37.3	CACCCGATG	C	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.374_381del (p.Pro125fs)	AGXT	not provided|Primary hyperoxaluria, type I	NA|259900	NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/971513	971513	001247309|002307710	953020	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241810085	241810094	2q37.3	AAGGACCCTGG	A	Likely pathogenic	NM_000030.3(AGXT):c.386_395del (p.Asp129fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/2584994	2584994	003340894	2752556	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553648488	241810105	241810106	2q37.3	A	ACACTG	Pathogenic	NM_000030.3(AGXT):c.406_410dup (p.Gln137fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/557281	557281	000673401	542186	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177214	241810111	241810111	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.409C>T (p.Gln137Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204099	204099	000186305	200485	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs2058986411	241810114	241810114	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/983729	983729	001263732	971790	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177215	241810116	241810118	2q37.3	AGGT	A	Likely pathogenic	NM_000030.3(AGXT):c.416_418del (p.Val139del)	AGXT	Primary hyperoxaluria, type I|See cases	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204184	204184	000186391|002252033	200486	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177217	241810125	241810125	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.423G>T (p.Glu141Asp)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204100	204100	000186306	200487	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs1553648493	241810126	241810126	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.423+1G>A	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/558526	558526	000674812	542189	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241810697	241810764	2q37.3	GGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCA	G	Likely pathogenic	NM_000030.3(AGXT):c.424-66_425del	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1949478	1949478	002676249	2003180	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177219	241810764	241810764	2q37.3	A	G	Pathogenic	NM_000030.3(AGXT):c.424-2A>G	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204164	204164	000186371	200493	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs1193344118	241810781	241810781	2q37.3	A	T	Likely pathogenic	NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/983730	983730	001263733	971791	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177220	241810787	241810787	2q37.3	AG	A	Pathogenic	NM_000030.3(AGXT):c.445del (p.Val149fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204186	204186	000186393	200494	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177221	241810787	241810794	2q37.3	AGTGCTGCT	A	Pathogenic	NM_000030.3(AGXT):c.447_454del (p.Leu151fs)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria	259900|NA	416|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204185	204185	000186392|001192773	200495	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177222	241810791	241810791	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.449T>C (p.Leu150Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204101	204101	000186307	200496	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs121908524	241810796	241810796	2q37.3	T	A	Pathogenic	NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/5645	5645	000005999|000727639|000779687	20684	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241810797	241810797	2q37.3	T	G	Likely pathogenic	NM_000030.3(AGXT):c.455T>G (p.Phe152Cys)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1517157	1517157	002027139	1515317	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177223	241810799	241810799	2q37.3	T	G	Pathogenic	NM_000030.3(AGXT):c.457T>G (p.Leu153Val)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204102	204102	000186308	200497	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177224	241810801	241810801	2q37.3	TA	T	Pathogenic	NM_000030.3(AGXT):c.460del (p.Thr154fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204187	204187	000186394	200498	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs121908530	241810808	241810808	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/5650	5650	000006004|001851686|002265548	20689	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs121908530	241810808	241810808	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/552979	552979	000668336|002530741	542075	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241810809	241810809	2q37.3	G	C	Likely pathogenic	NM_000030.3(AGXT):c.467G>C (p.Gly156Ala)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1467244	1467244	001990723	1356751	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177225	241810815	241810815	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.473C>A (p.Ser158Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204104	204104	000186310	200499	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177225	241810815	241810815	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204103	204103	000186309|001233993	200500	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177227	241810823	241810823	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	AGXT	Primary hyperoxaluria, type I|Nephrocalcinosis;Nephrolithiasis|not provided|Primary hyperoxaluria	259900|NA;NA|NA|NA	416|NA;NA|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204105	204105	000186311|000662317|001069631|003226241	200501	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177227	241810823	241810823	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.481G>C (p.Gly161Arg)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204106	204106	000186312	200502	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177227	241810823	241810823	2q37.3	G	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/188738	188738	000169046|001066143	186656	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241810832	241810832	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2029609	2029609	002880908	2078540	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177230	241810839	241810839	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.497T>C (p.Leu166Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204107	204107	000186313	200504	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs121908529	241810850	241810850	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria|AGXT-related condition	259900|NA|NA|NA	416|NA|416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/40166	40166	000032681|000432954|000589490|003407388	38436	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177231	241810860	241810860	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204108	204108	000186314	200505	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177232	241810861	241810861	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.519C>A (p.Cys173Ter)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria	259900|NA	416|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204109	204109	000186315|001192775	200506	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177233	241810861	241810862	2q37.3	CC	GA	Pathogenic	NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204188	204188	000186395	200507	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241810867	241810867	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.524+1G>A	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2203298	2203298	002651633	1925527	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241810867	241818536	2q37.3	NA	NA	Pathogenic	NG_008005.1:g.(7706_9235)_(15375_?)del	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204216	204216	000186423	200411	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs1553648568	241810868	241810868	2q37.3	T	A	Likely pathogenic	NM_000030.3(AGXT):c.524+2T>A	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/551385	551385	000666434	541943	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241812394	241812394	2q37.3	A	G	Pathogenic	NM_000030.3(AGXT):c.525-2A>G	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1362799	1362799	001901924	1396119	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241812394	241812394	2q37.3	A	T	Pathogenic	NM_000030.3(AGXT):c.525-2A>T	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2156629	2156629	003084185	1886300	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177234	241812395	241812395	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.525-1G>A	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204165	204165	000186372|001852427	200509	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241812399	241812399	2q37.3	C	A	Likely pathogenic	NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1725119	1725119	002308178	1782646	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177235	241812404	241812404	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204110	204110	000186316|002513968	200510	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs1400552764	241812405	241812405	2q37.3	C	G	Likely pathogenic	NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/973192	973192	001280544	961570	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241812407	241812407	2q37.3	T	ACTGGAGG	Likely pathogenic	NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1725188	1725188	002308247	1782715	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177236	241812418	241812418	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204111	204111	000186317	200511	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177237	241812428	241812433	2q37.3	CATCCC	ATCGGT	Pathogenic	NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204189	204189	000186396	200512	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177238	241812431	241812431	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria	259900|NA	416|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/140584	140584	000128801|003317095	150265	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177240	241812439	241812439	2q37.3	CG	C	Pathogenic	NM_000030.3(AGXT):c.570del (p.Thr191fs)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204190	204190	000186397|001215806|001824668	200513	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177239	241812439	241812439	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/189047	189047	000169439|000816747	186657	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241812439	241812439	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.568G>C (p.Gly190Arg)	AGXT	Primary hyperoxaluria	NA	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/2577088	2577088	003324165	2741989	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241812440	241812440	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.569G>A (p.Gly190Glu)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2029395	2029395	002863766	2078326	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241812440	241812440	2q37.3	G	C	Likely pathogenic	NM_000030.3(AGXT):c.569G>C (p.Gly190Ala)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1510061	1510061	002042967	1445980	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241812440	241812440	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.569G>T (p.Gly190Val)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1515099	1515099	002048424	1482288	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177241	241812442	241812443	2q37.3	A	AC	Pathogenic	NM_000030.3(AGXT):c.577dup (p.Leu193fs)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided	259900|NA|NA	416|416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204192	204192	000186399|001192772|001852428	200515	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177241	241812443	241812443	2q37.3	AC	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.577del (p.Leu193fs)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204191	204191	000186398|001238262|001844078	200514	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241812449	241812450	2q37.3	CTT	C	Likely pathogenic	NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1725026	1725026	002308085	1782553	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177243	241812454	241812454	2q37.3	A	C	Pathogenic	NM_000030.3(AGXT):c.583A>C (p.Met195Leu)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204112	204112	000186318	200516	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177244	241812455	241812455	2q37.3	T	G	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.584T>G (p.Met195Arg)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204113	204113	000186319|001036463	200517	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241812456	241812456	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.585G>A (p.Met195Ile)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1485053	1485053	002030313	1393779	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052062	241812466	241812466	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.595G>A (p.Gly199Ser)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204114	204114	000186320	200518	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177245	241813393	241813393	2q37.3	A	G	Pathogenic	NM_000030.3(AGXT):c.596-2A>G	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204166	204166	000186373	200519	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241813394	241813394	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.596-1G>A	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1879839	1879839	002512430	1936665	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177246	241813402	241813402	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204115	204115	000186321|001222818	200520	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs536352238	241813404	241813404	2q37.3	T	A	Pathogenic	NM_000030.3(AGXT):c.605T>A (p.Ile202Asn)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204116	204116	000186322	200521	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177247	241813411	241813411	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204117	204117	000186323	200522	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs121908520	241813412	241813412	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5640	5640	000005994|000420710	20679	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177248	241813413	241813413	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.614C>A (p.Ser205Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204119	204119	000186325	200523	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177248	241813413	241813413	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204118	204118	000186324|001857589|002307437	200524	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177250	241813427	241813427	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.628G>C (p.Ala210Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204120	204120	000186326	200525	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241813441	241813441	2q37.3	CT	C	Pathogenic	NM_000030.3(AGXT):c.642del (p.Pro215fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1330294	1330294	001801326	1320974	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177251	241813441	241813444	2q37.3	CTCCA	C	Pathogenic	NM_000030.3(AGXT):c.642_645del (p.Pro215fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204193	204193	000186400	200526	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177252	241813445	241813445	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204121	204121	000186327	200527	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177253	241813452	241813452	2q37.3	C	A	Likely pathogenic	NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/983731	983731	001263734	971792	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177253	241813452	241813452	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/188979	188979	000169358|001386996	186658	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177254	241813460	241813460	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.661T>C (p.Ser221Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204122	204122	000186328	200528	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241813462	241813463	2q37.3	C	CT	Pathogenic	NM_000030.3(AGXT):c.665dup (p.Ser223fs)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2119770	2119770	003033261	2180250	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1057516896	241813472	241813475	2q37.3	CAAGG	C	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.673_676del (p.Lys225fs)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/370958	370958	000410991|001850952	357248	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177255	241813478	241813481	2q37.3	CAAGT	C	Pathogenic	NM_000030.3(AGXT):c.679_680+2del	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204195	204195	000186402|001070865	200613	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs111996685	241813480	241813480	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.680+1G>A	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria	259900|NA	416|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204154	204154	000186361|003330551	200530	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs111996685	241813480	241813480	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.680+1G>C	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204153	204153	000186360	200531	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs111742810	241813481	241813481	2q37.3	T	A	Pathogenic	NM_000030.3(AGXT):c.680+2T>A	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204155	204155	000186362	200532	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177256	241813484	241813484	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.680+5G>C	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204156	204156	000186363	200533	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs1553648931	241813959	241814690	2q37.3	CCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC	TGAGA	Pathogenic	NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204196	204196	000186403	200537	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs112673831	241814525	241814525	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.681-1G>T	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/551296	551296	000666318	542050	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1553648979	241814527	241814529	2q37.3	AAAG	A	Likely pathogenic	NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/801921	801921	000987078	790221	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs121908526	241814542	241814542	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5647	5647	000006001|001070457	20686	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs121908527	241814543	241814543	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.698G>A (p.Arg233His)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5648	5648	000006002|001385647	20687	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs121908527	241814543	241814543	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.698G>T (p.Arg233Leu)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204123	204123	000186329|001857590	200539	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241814551	241814551	2q37.3	A	T	Likely pathogenic	NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1725682	1725682	002309366	1783209	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177257	241814569	241814570	2q37.3	C	CT	Pathogenic	NM_000030.3(AGXT):c.725dup (p.Asp243fs)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204197	204197	000186404|001857595	200541	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177258	241814572	241814572	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.727G>C (p.Asp243His)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204124	204124	000186330	200542	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs121908525	241814576	241814576	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	AGXT	Primary hyperoxaluria, type I|Nephrolithiasis;Nephrocalcinosis|Primary hyperoxaluria|not provided|AGXT-related condition	259900|NA;NA|NA|NA|NA	416|NA;NA|416|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5646	5646	000006000|000662316|000586265|001042614|003407286	20685	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177259	241814582	241814582	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/189035	189035	000169425	186659	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs121908528	241814583	241814583	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/5649	5649	000006003	20688	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177261	241814588	241814588	2q37.3	GC	G	Pathogenic	NM_000030.3(AGXT):c.744del (p.Asn249fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204198	204198	000186405	200544	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241814596	241814596	2q37.3	T	C	Likely pathogenic	NM_000030.3(AGXT):c.751T>C (p.Trp251Arg)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1511903	1511903	002020644	1455538	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052072	241814596	241814597	2q37.3	TG	AA	Pathogenic	NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204199	204199	000186406	200545	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs786204545	241814597	241814597	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/188898	188898	000169258	186660	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177263	241814598	241814598	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.753G>A (p.Trp251Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204125	204125	000186331	200546	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177264	241814602	241814602	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204126	204126	000186332|001236934	200547	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177265	241814622	241814622	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.776+1G>A	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204157	204157	000186364|002513969	200548	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177265	241814622	241814622	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.776+1G>C	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204158	204158	000186365	200549	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs1553649007	241814623	241814623	2q37.3	T	G	Likely pathogenic	NM_000030.3(AGXT):c.776+2T>G	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/550885	550885	000665763	542191	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052068	241815350	241815350	2q37.3	A	G	Likely pathogenic	NM_000030.3(AGXT):c.777-2A>G	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204167	204167	000186374|002223813	200552	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177267	241815351	241815351	2q37.3	G	C	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.777-1G>C	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/188774	188774	000169101|001054661|001194150	186661	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177269	241815358	241815358	2q37.3	T	A	Pathogenic	NM_000030.3(AGXT):c.783T>A (p.His261Gln)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204127	204127	000186333	200553	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241815367	241815367	2q37.3	TC	T	Pathogenic	NM_000030.3(AGXT):c.795del (p.Val266fs)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1069766	1069766	001381731	1059265	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177270	241815373	241815377	2q37.3	CATCA	ACAATCTCAG	Pathogenic	NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204200	204200	000186407	200554	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177273	241815390	241815391	2q37.3	T	TGA	Pathogenic	NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided	259900|NA|NA	416|416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204201	204201	000186408|000780823|001209339	200558	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241815391	241815392	2q37.3	TGA	T	Pathogenic	NM_000030.3(AGXT):c.823_824del (p.Ser275fs)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074073	1074073	001387250	1059266	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177272	241815398	241815398	2q37.3	A	C	Pathogenic	NM_000030.3(AGXT):c.823A>C (p.Ser275Arg)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204130	204130	000186336	200557	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241815399	241815399	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.824G>A (p.Ser275Asn)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1484049	1484049	002003391	1458831	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241815399	241815399	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.824G>T (p.Ser275Ile)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1519263	1519263	002024481	1433760	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241815405	241815405	2q37.3	GC	G	Pathogenic	NM_000030.3(AGXT):c.832del (p.Leu278fs)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075767	1075767	001389457	1059267	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177276	241815409	241815409	2q37.3	TC	T	Pathogenic	NM_000030.3(AGXT):c.834del (p.Ile279fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204203	204203	000186410	200561	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241815413	241815413	2q37.3	TG	T	Likely pathogenic	NM_000030.3(AGXT):c.838del (p.Ala280fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323868	1323868	001785901	1314148	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs1575711244	241815416	241815416	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.841G>T (p.Glu281Ter)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/641162	641162	000794339	629746	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177279	241815419	241815419	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.844C>T (p.Gln282Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204131	204131	000186337	200564	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177284	241815421	241815421	2q37.3	G	C	Pathogenic	NM_000030.3(AGXT):c.846G>C (p.Gln282His)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204132	204132	000186338	200566	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177281	241815422	241815422	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.846+1G>A	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204160	204160	000186367	200567	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177281	241815422	241815422	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.846+1G>T	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204159	204159	000186366|000806714|002307438	200568	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241816067	241817188	2q37.3	GCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGAT	G	Pathogenic	NM_000030.3(AGXT):c.846+646_942+139del	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204204	204204	000186411	200570	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241816944	241817059	2q37.3	NA	NA	Pathogenic	NC_000002.11:g.(?_241816944)_(241817059_?)del	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459881	1459881	001982928	1481239	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241816944	241818248	2q37.3	NA	NA	Pathogenic	NC_000002.11:g.(?_241816944)_(241818248_?)del	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2422156	2422156	003119099	1942190	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177286	241816951	241816951	2q37.3	C	G	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.847-3C>G	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204169	204169	000186376|000803735	200571	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs1553649375	241816952	241816953	2q37.3	CAG	C	Likely pathogenic	NM_000030.3(AGXT):c.847-2_847-1del	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/558509	558509	000674790	542081	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177285	241816953	241816953	2q37.3	G	C	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.847-1G>C	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria	259900|NA	416|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204168	204168	000186375|001269136	200572	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177287	241816958	241816958	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.851T>C (p.Leu284Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204133	204133	000186339	200573	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177288	241816960	241816960	2q37.3	G	T	Pathogenic	NM_000030.3(AGXT):c.853G>T (p.Glu285Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204134	204134	000186340	200574	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241816963	241816963	2q37.3	A	CC	Pathogenic	NM_000030.3(AGXT):c.856delinsCC (p.Asn286fs)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2035288	2035288	002877437	2097072	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177289	241816967	241816968	2q37.3	GC	CG	Pathogenic	NM_000030.3(AGXT):c.860_861delinsCG (p.Ser287Thr)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204205	204205	000186412	200614	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241816970	241816970	2q37.3	G	A	Likely pathogenic	NM_000030.3(AGXT):c.863G>A (p.Trp288Ter)	AGXT	Nephrotic syndrome	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1344881	1344881	001849883	1336653	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177292	241816998	241816998	2q37.3	T	G	Likely pathogenic	NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204135	204135	000186342	200578	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177293	241817000	241817000	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.893T>C (p.Leu298Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204136	204136	000186343	200579	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177294	241817014	241817014	2q37.3	C	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204137	204137	000186344|002516974	200580	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177295	241817026	241817026	2q37.3	GC	G	Pathogenic	NM_000030.3(AGXT):c.919del (p.Leu307fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204207	204207	000186414	200581	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177296	241817029	241817029	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.922C>T (p.Gln308Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204138	204138	000186345	200582	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241817041	241817041	2q37.3	A	T	Likely pathogenic	NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/1726776	1726776	002310460	1784303	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241817050	241817050	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.942+1G>A	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1456950	1456950	001953521	1477689	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177297	241817050	241817050	2q37.3	G	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.942+1G>T	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204161	204161	000186368|001857593	200583	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177298	241817438	241817438	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.943-1G>A	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204171	204171	000186378	200585	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177298	241817438	241817438	2q37.3	G	T	Likely pathogenic	NM_000030.3(AGXT):c.943-1G>T	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204170	204170	000186377	200586	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs796052063	241817443	241817443	2q37.3	T	C	Pathogenic	NM_000030.3(AGXT):c.947T>C (p.Leu316Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204139	204139	000186346	200587	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177299	241817452	241817452	2q37.3	C	T	Pathogenic	NM_000030.3(AGXT):c.956C>T (p.Pro319Leu)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204140	204140	000186347	200588	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs796052074	241817453	241817454	2q37.3	CCA	C	Pathogenic	NM_000030.3(AGXT):c.959_960del (p.Thr320fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204208	204208	000186415	200589	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177300	241817465	241817466	2q37.3	CTG	C	Pathogenic	NM_000030.3(AGXT):c.971_972del (p.Val324fs)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204209	204209	000186416|001852429	200590	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs2059037657	241817468	241817468	2q37.3	TG	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.973del (p.Ala325fs)	AGXT	not provided|Primary hyperoxaluria, type I	NA|259900	NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/951893	951893	001223894|003145421	922675	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177301	241817472	241817472	2q37.3	TG	T	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.976del (p.Val326fs)	AGXT	Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided	259900|NA|NA	416|416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/189161	189161	000169587|001328354|001382061	186662	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	NA	241817478	241817479	2q37.3	G	GC	Pathogenic	NM_000030.3(AGXT):c.983dup (p.Gly329fs)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2043781	2043781	002895909	2102954	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177302	241817479	241817484	2q37.3	GCTGGCT	G	Pathogenic	NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204210	204210	000186417	200592	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs796052064	241817492	241817492	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204141	204141	000186348|001857591	200593	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177303	241817493	241817493	2q37.3	A	T	Pathogenic	NM_000030.3(AGXT):c.997A>T (p.Arg333Ter)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204142	204142	000186349|001382062	200594	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177155	241817503	241817503	2q37.3	T	A	Likely pathogenic	NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204143	204143	000186350	200595	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs756437332	241817510	241817510	2q37.3	C	G	Pathogenic	NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204144	204144	000186351	200596	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs796052065	241817541	241817541	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204145	204145	000186352	200597	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177156	241817545	241817545	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	AGXT	Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria	259900|NA|NA	416|NA|416	http://www.ncbi.nlm.nih.gov/clinvar/variation/188986	188986	000169365|001067841|001328117	186663	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177158	241817568	241817568	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.1071+1G>A	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204162	204162	000186369	200598	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241817568	241818536	2q37.3	NA	NA	Pathogenic	NG_008005.1:g.(14407_14970)_(15375_?)del	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204213	204213	000186420	200412	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241818121	241818248	2q37.3	NA	NA	Pathogenic	NC_000002.11:g.(?_241818121)_(241818248_?)del	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2422154	2422154	003119097	1942188	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177160	241818135	241818135	2q37.3	T	C	Likely pathogenic	NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204146	204146	000186353	200600	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	241818137	241818137	2q37.3	C	T	Likely pathogenic	NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2203299	2203299	002651634	1925528	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	rs180177161	241818138	241818138	2q37.3	G	A	Pathogenic/Likely pathogenic	NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	AGXT	Primary hyperoxaluria, type I|not provided	259900|NA	416|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/204147	204147	000186354|001857592	200601	criteria provided, multiple submitters, no conflicts
rs10183172	chr2	241495014	242495014	rs180177161	241818138	241818138	2q37.3	G	C	Likely pathogenic	NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro)	AGXT	Nephrocalcinosis;Nephrolithiasis	NA;NA	NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/548671	548671	000662314	539125	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177163	241818161	241818161	2q37.3	G	A	Pathogenic	NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204148	204148	000186355	200602	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs796052075	241818167	241818168	2q37.3	CCG	C	Pathogenic	NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204211	204211	000186418	200603	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs180177164	241818182	241818183	2q37.3	CCG	C	Pathogenic	NM_000030.3(AGXT):c.1125_1126del (p.Val376fs)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204212	204212	000186419	200604	no assertion criteria provided
rs10183172	chr2	241495014	242495014	rs796052066	241818207	241818207	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp)	AGXT	Primary hyperoxaluria, type I	259900	416	http://www.ncbi.nlm.nih.gov/clinvar/variation/204149	204149	000186356	200606	no assertion criteria provided
rs10183172	chr2	241495014	242495014	NA	241818220	241818220	2q37.3	C	A	Pathogenic	NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)	AGXT	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2159394	2159394	003072792	1890402	criteria provided, single submitter
rs10183172	chr2	241495014	242495014	NA	242177268	242478356	2q37.3	NA	NA	Likely pathogenic	GRCh37/hg19 2q37.3(chr2:242177268-242478356)x1	FARP2;HDLBP;SEPTIN2;STK25	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/814383	814383	001005389	802595	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	6903076	9517775	3p26.1-25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_6903076)_(9517775_?)del	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2423657	2423657	003122488	1945869	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9043040	9454382	3p25.3	NA	NA	Pathogenic	GRCh37/hg19 3p25.3(chr3:9043040-9454382)x1	SRGAP3;THUMPD3;SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/562752	562752	000682241	553936	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9387774	9503839	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.9387774_9503839del116066	SETD5;THUMPD3	3p- syndrome	613792	1620	http://www.ncbi.nlm.nih.gov/clinvar/variation/818229	818229	002227505	806442	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	nsv2770846	9421663	9574327	3p25.3	NA	NA	Likely pathogenic	GRCh37/hg19 3p25.3(chr3:9421663-9574327)x1	LHFPL4;SETD5;THUMPD3	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/442033	442033	000511930	435695	no assertion criteria provided
rs13319174	chr3	9364401	10364401	nsv2777715	9425742	9481293	3p25.3	NA	NA	Likely pathogenic	GRCh37/hg19 3p25.3(chr3:9425742-9481293)x1	SETD5;THUMPD3	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/443247	443247	000512302	436909	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9470623	9485121	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_9470623)_(9485121_?)del	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459443	1459443	001959002	1484634	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2040265772	9475631	9475631	3p25.3	T	A	Pathogenic	NM_001080517.3(SETD5):c.174T>A (p.Tyr58Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/988412	988412	001269757	976255	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2040365404	9476518	9476519	3p25.3	A	AG	Pathogenic	NM_001080517.3(SETD5):c.345dup (p.Lys116fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/975772	975772	001252618	963548	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9477511	9477512	3p25.3	C	CT	Pathogenic	NM_001080517.3(SETD5):c.489dup (p.Val164fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527877	1527877	002074458	1519384	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9477533	9477533	3p25.3	AG	A	Pathogenic	NM_001080517.3(SETD5):c.510del (p.Lys171fs)	SETD5	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2446033	2446033	003156189	2419455	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9477557	9477557	3p25.3	AG	A	Pathogenic	NM_001080517.3(SETD5):c.536del (p.Gly179fs)	SETD5	Neurodevelopmental disorder	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1321988	1321988	001780068	1312306	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553618323	9477566	9477646	3p25.3	CAGCACCAAAGACGAAGAAAATCAAGGTATGCAGGGTAAAAATATCTTAAATAGAAATTGTCTGAAATAGCTTAAATTTTGG	C	Pathogenic	NM_001080517.3(SETD5):c.547_567+60del	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/219199	219199	000203572	217225	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9482141	9490314	3p25.3	NA	NA	Likely pathogenic	GRCh37/hg19 3p25.3(chr3:9482141-9490314)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2506523	2506523	003236707	2671483	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559413463	9482158	9482158	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.586C>T (p.Gln196Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/620351	620351	000760722	611598	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9482160	9482163	3p25.3	AGAAT	A	Pathogenic	NM_001080517.3(SETD5):c.588_591del (p.Gln196fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1805789	1805789	002472207	1862800	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9482189	9482189	3p25.3	G	A	Likely pathogenic	NM_001080517.3(SETD5):c.617G>A (p.Trp206Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2444235	2444235	003153033	2417968	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041147607	9482220	9482220	3p25.3	AG	A	Pathogenic	NM_001080517.3(SETD5):c.648del (p.Gln216fs)	SETD5	Intellectual disability	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/978944	978944	001257740	966943	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575421295	9482242	9482242	3p25.3	C	T	Likely pathogenic	NM_001080517.3(SETD5):c.670C>T (p.Gln224Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/666304	666304	000824840	653862	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041149106	9482242	9482242	3p25.3	TC	T	Pathogenic	NM_001080517.3(SETD5):c.670del (p.Gln224fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/987012	987012	001268215	975112	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9482331	9482332	3p25.3	TTA	T	Pathogenic	NM_001080517.3(SETD5):c.759_760del (p.Ile253_Asn254insTer)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1183999	1183999	001541934	1173697	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483280	9483280	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.814C>T (p.Gln272Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2507195	2507195	003239086	2672185	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575427309	9483285	9483285	3p25.3	TG	T	Pathogenic	NM_001080517.3(SETD5):c.821del (p.Gly274fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817327	817327	001008447	805364	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483294	9483295	3p25.3	C	CA	Pathogenic	NM_001080517.3(SETD5):c.829dup (p.Thr277fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1677815	1677815	002223496	1669505	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483333	9483337	3p25.3	CAAGAG	C	Pathogenic	NM_001080517.3(SETD5):c.868_872del (p.Arg290fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2663821	2663821	003444034	2831269	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041310524	9483339	9483339	3p25.3	AT	A	Pathogenic	NM_001080517.3(SETD5):c.875del (p.Leu292fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/916256	916256	001171826	904441	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483341	9483341	3p25.3	T	C	Likely pathogenic	NM_001080517.3(SETD5):c.875T>C (p.Leu292Ser)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527966	1527966	002071032	1519473	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483353	9483354	3p25.3	ACT	A	Pathogenic	NM_001080517.3(SETD5):c.889_890del (p.Leu297fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323579	1323579	001784962	1313862	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483355	9483356	3p25.3	C	CT	Pathogenic	NM_001080517.3(SETD5):c.891dup (p.Ile298fs)	SETD5	SETD5-related disorders	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2584484	2584484	003335924	2752047	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483356	9483363	3p25.3	TTATAATA	C	Pathogenic	NM_001080517.3(SETD5):c.890_897delinsC (p.Leu297fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1343149	1343149	001843750	1334794	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483357	9483357	3p25.3	T	AAG	Likely pathogenic	NM_001080517.3(SETD5):c.891delinsAAG (p.Ile298fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325055	1325055	001783732	1315317	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483359	9483359	3p25.3	T	C	Pathogenic	NM_001080517.3(SETD5):c.893T>C (p.Ile298Thr)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2446473	2446473	003159303	2421601	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483359	9483366	3p25.3	ATAATAGAG	A	Likely pathogenic	NM_001080517.3(SETD5):c.895_902del (p.Ile299fs)	SETD5	SETD5-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2635168	2635168	003392987	2802069	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483361	9483362	3p25.3	AAT	A	Pathogenic	NM_001080517.3(SETD5):c.896_897del (p.Ile299fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1971398	1971398	002740703	2022912	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575427610	9483363	9483363	3p25.3	TA	T	Likely pathogenic	NM_001080517.3(SETD5):c.897del (p.Ile299fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/812163	812163	001002795	800395	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553621390	9483368	9483369	3p25.3	A	ATCGTGGGAAAG	Pathogenic	NM_001080517.3(SETD5):c.905_915dup (p.Met306fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/503788	503788	000599320	495203	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483380	9483380	3p25.3	T	G	Likely pathogenic	NM_001080517.3(SETD5):c.914T>G (p.Val305Gly)	SETD5	Neurodevelopmental delay	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1700122	1700122	002274371	1692517	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1421204500	9483388	9483388	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/620169	620169	000760512|000987090	611599	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2041315307	9483407	9483407	3p25.3	A	G	Pathogenic/Likely pathogenic	NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|not provided	615761|NA	404440|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/973265	973265	001249686|003128758	961602	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2041316219	9483421	9483421	3p25.3	CA	C	Pathogenic	NM_001080517.3(SETD5):c.960del (p.Lys320fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/818221	818221	001030793	806434	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483806	9483806	3p25.3	C	G	Pathogenic	NM_001080517.3(SETD5):c.960-6C>G	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1476332	1476332	002008098	1339105	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483807	9483807	3p25.3	C	G	Pathogenic/Likely pathogenic	NM_001080517.3(SETD5):c.960-5C>G	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064598	1064598	001726503	1052849	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2041370929	9483824	9483824	3p25.3	T	G	Likely pathogenic	NM_001080517.3(SETD5):c.972T>G (p.Phe324Leu)	SETD5	Global developmental delay	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/983409	983409	001263388	971406	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483829	9483829	3p25.3	CT	C	Likely pathogenic	NM_001080517.3(SETD5):c.977del (p.Leu326fs)	SETD5	Rare genetic intellectual disability	NA	183757	http://www.ncbi.nlm.nih.gov/clinvar/variation/978396	978396	001257005	966510	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9483858	9483859	3p25.3	GAT	G	Pathogenic	NM_001080517.3(SETD5):c.1006_1007del (p.Met336fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2446167	2446167	003156521	2419589	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553621754	9483867	9483867	3p25.3	G	T	Likely pathogenic	NM_001080517.3(SETD5):c.1015G>T (p.Asp339Tyr)	SETD5	not provided|Moyamoya angiopathy with developmental delay	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/432024	432024	000498306|001261737	425580	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483877	9483878	3p25.3	C	CT	Pathogenic	NM_001080517.3(SETD5):c.1028dup (p.Gly344fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1343278	1343278	001843880	1334922	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483881	9483881	3p25.3	TC	T	Pathogenic	NM_001080517.3(SETD5):c.1029del (p.Phe343fs)	SETD5	Global developmental delay	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1708298	1708298	002287671	1706596	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041376679	9483882	9483882	3p25.3	G	A	Likely pathogenic	NM_001080517.3(SETD5):c.1030G>A (p.Gly344Ser)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/975774	975774	001252620	963549	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483895	9483895	3p25.3	G	T	Likely pathogenic	NM_001080517.3(SETD5):c.1043G>T (p.Arg348Leu)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1065941	1065941	001376793	1055389	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9483912	9483912	3p25.3	T	C	Likely pathogenic	NM_001080517.3(SETD5):c.1060T>C (p.Cys354Arg)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1708486	1708486	002287857	1706784	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041379399	9483923	9483923	3p25.3	T	A	Likely pathogenic	NM_001080517.3(SETD5):c.1071T>A (p.Asn357Lys)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/949770	949770	001221311	923367	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041379870	9483929	9483929	3p25.3	G	A	Likely pathogenic	NM_001080517.3(SETD5):c.1077G>A (p.Glu359=)	SETD5	Chromatinopathy	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/981663	981663	001261203	969770	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2041380175	9483930	9483930	3p25.3	G	T	Pathogenic	NM_001080517.3(SETD5):c.1077+1G>T	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/871919	871919	001092123	859304	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9484995	9484995	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.1081C>T (p.Arg361Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1684147	1684147	002245147	1676078	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9484996	9484996	3p25.3	G	C	Pathogenic	NM_001080517.3(SETD5):c.1082G>C (p.Arg361Pro)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1686177	1686177	002250344	1678187	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553622384	9485001	9485002	3p25.3	CAT	C	Pathogenic	NM_001080517.3(SETD5):c.1087_1088del (p.Met363fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/452743	452743	000524049	443522	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1135401767	9485038	9485039	3p25.3	C	CT	Pathogenic	NM_001080517.3(SETD5):c.1125dup (p.Val376fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/431105	431105	000496196	424628	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9486735	9486736	3p25.3	T	TTA	Pathogenic	NM_001080517.3(SETD5):c.1194_1195dup (p.Lys399fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2105410	2105410	003023435	2169762	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs587777325	9486739	9486739	3p25.3	A	T	Pathogenic	NM_001080517.3(SETD5):c.1195A>T (p.Lys399Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/127102	127102	000114960	132611	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553623299	9486750	9486750	3p25.3	T	A	Pathogenic	NM_001080517.3(SETD5):c.1206T>A (p.Cys402Ter)	SETD5	not provided|SETD5-Related Disorder	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/450270	450270	000519775|002464242	443524	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9486791	9486791	3p25.3	AG	A	Pathogenic	NM_001080517.3(SETD5):c.1248del (p.Asn417fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1220311	1220311	001592569	1210287	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575449107	9486817	9486826	3p25.3	ACTCCTACCAC	A	Likely pathogenic	NM_001080517.3(SETD5):c.1278_1287del (p.Pro427fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/809411	809411	000997976	795482	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9486855	9486856	3p25.3	CAG	C	Pathogenic	NM_001080517.3(SETD5):c.1314_1315del (p.Glu438fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1711562	1711562	002293078	1709978	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs886039432	9486877	9486877	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.1333C>T (p.Arg445Ter)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/265257	265257	000256033|003147433	259779	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2041797086	9486934	9486934	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.1390C>T (p.Gln464Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|not provided	615761|NA	404440|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1032602	1032602	001334744|003332323	1019880	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9486955	9486956	3p25.3	G	GA	Pathogenic	NM_001080517.3(SETD5):c.1416dup (p.Val473fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1992342	1992342	002776547	2048990	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041850053	9487339	9487339	3p25.3	A	G	Pathogenic	NM_001080517.3(SETD5):c.1441-2A>G	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|not provided	615761|NA	404440|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/976477	976477	001253799|003229034	964742	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041850171	9487340	9487340	3p25.3	G	A	Pathogenic	NM_001080517.3(SETD5):c.1441-1G>A	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/917529	917529	001174534	905858	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9487340	9487341	3p25.3	G	GGCTT	Likely pathogenic	NM_001080517.3(SETD5):c.1441_1442insCTTG (p.Glu481delinsAlaTer)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1709720	1709720	002290062	1708074	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553623880	9487346	9487346	3p25.3	TA	T	Likely pathogenic	NM_001080517.3(SETD5):c.1446del (p.Asp483fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/503885	503885	000599601	495153	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575453353	9487351	9487352	3p25.3	A	AT	Likely pathogenic	NM_001080517.3(SETD5):c.1452dup (p.Pro485fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/800867	800867	000985054	788768	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs369459846	9487359	9487359	3p25.3	G	T	Pathogenic	NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1031046	1031046	001332771	1016323	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9487383	9487383	3p25.3	G	T	Pathogenic	NM_001080517.3(SETD5):c.1483G>T (p.Glu495Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2505853	2505853	003236085	2670817	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2041856807	9487395	9487395	3p25.3	TG	T	Pathogenic	NM_001080517.3(SETD5):c.1495del (p.Asp499fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1032603	1032603	001334745	1019881	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559427364	9487398	9487398	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.1498C>T (p.Gln500Ter)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|SETD5-related condition	NA|615761|NA	NA|404440|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/620539	620539	000760925|001849434|003411700	611600	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9488733	9488733	3p25.3	G	A	Pathogenic	NM_001080517.3(SETD5):c.1525-1G>A	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451659	1451659	001993304	1426059	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9488733	9488733	3p25.3	G	C	Pathogenic/Likely pathogenic	NM_001080517.3(SETD5):c.1525-1G>C	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1254037	1254037	001665181|002471129	1243974	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1553625037	9488749	9488749	3p25.3	A	T	Pathogenic	NM_001080517.3(SETD5):c.1540A>T (p.Lys514Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/489325	489325	000579380	481704	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575466399	9488772	9488772	3p25.3	CT	C	Pathogenic	NM_001080517.3(SETD5):c.1566del (p.Phe522fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/807683	807683	000995869	798538	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9488776	9488777	3p25.3	G	GA	Pathogenic	NM_001080517.3(SETD5):c.1571dup (p.Asn524fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/992840	992840	001281602	980778	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042109833	9488782	9488783	3p25.3	CTT	C	Pathogenic	NM_001080517.3(SETD5):c.1573_1574del (p.Leu525fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/818222	818222	001030794	806435	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9488817	9488817	3p25.3	TG	T	Pathogenic	NM_001080517.3(SETD5):c.1609del (p.Glu537fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2022616	2022616	002852619	2076680	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9488821	9488821	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.1612C>T (p.Gln538Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1679238	1679238	002226835	1671161	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575466995	9488831	9488832	3p25.3	C	CT	Pathogenic	NM_001080517.3(SETD5):c.1623dup (p.Asp542Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817566	817566	001008724	805365	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9488835	9488835	3p25.3	AT	A	Pathogenic	NM_001080517.3(SETD5):c.1626del (p.Asp542fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2442372	2442372	003149145	2416085	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9488898	9488898	3p25.3	CT	C	Pathogenic	NM_001080517.3(SETD5):c.1689del (p.Glu564fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325818	1325818	001785355	1316079	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042123799	9488911	9488912	3p25.3	A	AT	Pathogenic	NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/998029	998029	001293710	985721	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575467723	9488916	9488917	3p25.3	ACT	A	Likely pathogenic	NM_001080517.3(SETD5):c.1709_1710del (p.Ser570fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/666306	666306	000824842	653864	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9488918	9488919	3p25.3	C	CT	Pathogenic	NM_001080517.3(SETD5):c.1710dup (p.Val571fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2136132	2136132	003059910	2192598	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs751539788	9488924	9488924	3p25.3	C	G	Pathogenic	NM_001080517.3(SETD5):c.1715C>G (p.Ser572Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/523890	523890	000627366	514494	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575467870	9488925	9488926	3p25.3	A	AC	Pathogenic	NM_001080517.3(SETD5):c.1716_1717insC (p.Asn573fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/818037	818037	001009280	805366	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1131691711	9488948	9488949	3p25.3	CCA	C	Pathogenic	NM_001080517.3(SETD5):c.1741_1742del (p.Gln581fs)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/429986	429986	000493031|002470883	421456	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2042128326	9488951	9488952	3p25.3	CAG	C	Pathogenic	NM_001080517.3(SETD5):c.1744_1745del (p.Ser582fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/975773	975773	001252619	963550	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9488992	9488992	3p25.3	G	A	Likely pathogenic	NM_001080517.3(SETD5):c.1782+1G>A	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2035791	2035791	002894478	2093708	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs797044953	9489368	9489368	3p25.3	A	T	Pathogenic	NM_001080517.3(SETD5):c.1783-2A>T	SETD5	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/208782	208782	000190808	205244	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553625691	9489369	9489369	3p25.3	G	C	Pathogenic	NM_001080517.3(SETD5):c.1783-1G>C	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/488444	488444	000578229	481310	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2042181751	9489388	9489388	3p25.3	AC	A	Pathogenic	NM_001080517.3(SETD5):c.1801del (p.Lys600_Leu601insTer)	SETD5	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/985857	985857	001266983	973390	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1218918142	9489439	9489439	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.1852C>T (p.Arg618Ter)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/489332	489332	000578814|001849403	481705	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9489440	9489440	3p25.3	CG	C	Pathogenic	NM_001080517.3(SETD5):c.1853del (p.Arg618fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2020944	2020944	002857660	2076289	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042188851	9489464	9489464	3p25.3	C	G	Likely pathogenic	NM_001080517.3(SETD5):c.1877C>G (p.Ser626Ter)	SETD5	Intellectual disability	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/978945	978945	001257741	966944	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553625836	9489480	9489481	3p25.3	G	GA	Pathogenic	NM_001080517.3(SETD5):c.1893_1894insA (p.Arg632fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/438302	438302	000505241	431907	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2042190198	9489486	9489489	3p25.3	AGAAG	A	Pathogenic	NM_001080517.3(SETD5):c.1899_1902del (p.Gln633fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/871920	871920	001092124	859305	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042190375	9489491	9489491	3p25.3	A	G	Pathogenic	NM_001080517.3(SETD5):c.1904A>G (p.Gln635Arg)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/871921	871921	001092125	859306	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9489494	9489495	3p25.3	C	CCAATGCACAGCAGGCAGAATTGT	Pathogenic	NM_001080517.3(SETD5):c.1910_1932dup (p.Gln645fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2120724	2120724	003059526	2183776	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042191502	9489502	9489502	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.1915C>T (p.Gln639Ter)	SETD5	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/985160	985160	001265922	973391	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042191795	9489505	9489505	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.1918C>T (p.Gln640Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/971380	971380	001247148	953602	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553625881	9489518	9489518	3p25.3	C	G	Likely pathogenic	NM_001080517.3(SETD5):c.1931C>G (p.Ser644Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/520418	520418	000622293	511024	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9489545	9489546	3p25.3	G	GT	Pathogenic	NM_001080517.3(SETD5):c.1959dup (p.Asn654Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1701449	1701449	002276114	1693840	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9489552	9489552	3p25.3	GT	G	Pathogenic	NM_001080517.3(SETD5):c.1967del (p.Ser655_Leu656insTer)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1679232	1679232	002226829	1671155	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs768750924	9489554	9489554	3p25.3	T	G	Pathogenic	NM_001080517.3(SETD5):c.1967T>G (p.Leu656Ter)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/871923	871923	001092127|003128084	859308	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2042197714	9489568	9489568	3p25.3	TG	T	Likely pathogenic	NM_001080517.3(SETD5):c.1981del (p.Glu661fs)	SETD5	Moyamoya angiopathy with developmental delay	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/982186	982186	001261736	970269	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1064796399	9489580	9489580	3p25.3	TC	T	Pathogenic	NM_001080517.3(SETD5):c.1993del (p.Ser664_Leu665insTer)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/423395	423395	000486292	406367	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9489590	9489590	3p25.3	C	G	Pathogenic/Likely pathogenic	NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|not provided|Inborn genetic diseases	615761|NA|NA	404440|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1710028	1710028	002290370|003101674|003365729	1708381	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2042206485	9489661	9489661	3p25.3	TG	T	Pathogenic	NM_001080517.3(SETD5):c.2074del (p.Ala692fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/954635	954635	001227130	943717	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575472601	9489682	9489683	3p25.3	A	AC	Pathogenic	NM_001080517.3(SETD5):c.2097dup (p.Lys700fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817205	817205	001008317	805367	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575472646	9489685	9489685	3p25.3	CA	C	Pathogenic	NM_001080517.3(SETD5):c.2102del (p.Lys701fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/845829	845829	001048972	828595	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9489692	9489692	3p25.3	T	G	Likely pathogenic	NM_001080517.3(SETD5):c.2103+2T>G	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2011160	2011160	002851204	2074234	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9490071	9490071	3p25.3	G	T	Likely pathogenic	NM_001080517.3(SETD5):c.2104-1G>T	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325054	1325054	001783731	1315316	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575475545	9490080	9490081	3p25.3	T	TA	Pathogenic	NM_001080517.3(SETD5):c.2113dup (p.Thr705fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817921	817921	001009152	805368	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs925484505	9490111	9490111	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter)	SETD5	KBG syndrome	148050	2332	http://www.ncbi.nlm.nih.gov/clinvar/variation/981702	981702	001261244	969771	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575475764	9490122	9490122	3p25.3	CT	C	Pathogenic	NM_001080517.3(SETD5):c.2154del (p.Val719fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/807684	807684	000995870	798539	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042262374	9490133	9490134	3p25.3	C	CT	Pathogenic	NM_001080517.3(SETD5):c.2168dup (p.Leu723fs)	SETD5	Cleft palate;Intellectual disability;Cleft lip	NA;NA;NA	2014;NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/981664	981664	001261204	969772	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9490136	9490136	3p25.3	T	A	Pathogenic/Likely pathogenic	NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2441815	2441815	003148120	2415530	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs587777326	9490143	9490144	3p25.3	TCA	T	Pathogenic	NM_001080517.3(SETD5):c.2177_2178del (p.Thr726fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|Intellectual disability	615761|NA	404440|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/127103	127103	000114961|001003579	132612	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9490149	9490149	3p25.3	CG	C	Likely pathogenic	NM_001080517.3(SETD5):c.2182del (p.Asp728fs)	SETD5	Hearing impairment;Heart, malformation of;Global developmental delay	NA;140500;NA	NA;NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1301864	1301864	001733808	1292146	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2042266753	9490184	9490185	3p25.3	TTA	T	Pathogenic	NM_001080517.3(SETD5):c.2216_2217del (p.Leu739fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/987206	987206	001268486	975113	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042271732	9490235	9490235	3p25.3	AT	A	Pathogenic	NM_001080517.3(SETD5):c.2268del (p.Arg757fs)	SETD5	KBG syndrome	148050	2332	http://www.ncbi.nlm.nih.gov/clinvar/variation/981700	981700	001261242	969773	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553626575	9490247	9490247	3p25.3	C	A	Pathogenic	NM_001080517.3(SETD5):c.2279C>A (p.Ser760Ter)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/546031	546031	000657788|002272317	536284	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs864321657	9490270	9490270	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|Neurodevelopmental disorder|not provided	615761|NA|NA	404440|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/219198	219198	000203577|001374941|001562177	217224	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559439258	9490307	9490308	3p25.3	G	GT	Pathogenic	NM_001080517.3(SETD5):c.2340dup (p.Lys781Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/597791	597791	000734020	588852	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9490311	9490312	3p25.3	GA	TT	Pathogenic	NM_001080517.3(SETD5):c.2343_2344delinsTT (p.Lys781_Lys782delinsAsnTer)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1119984	1119984	001449594	1108761	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs886041593	9495416	9495416	3p25.3	A	G	Pathogenic	NM_001080517.3(SETD5):c.2347-7A>G	SETD5	not provided|Inborn genetic diseases|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|See cases	NA|NA|615761|NA	NA|NA|404440|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/280376	280376	000308419|000624339|001542427|001420288	264172	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1553629676	9495422	9495422	3p25.3	G	A	Pathogenic	NM_001080517.3(SETD5):c.2347-1G>A	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/489078	489078	000578558	481706	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553629700	9495432	9495432	3p25.3	A	T	Pathogenic	NM_001080517.3(SETD5):c.2356A>T (p.Lys786Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/504355	504355	000599136	495209	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042899128	9495435	9495435	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.2359C>T (p.Gln787Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/987190	987190	001268462	975114	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9495459	9495459	3p25.3	C	T	Likely pathogenic	NM_001080517.3(SETD5):c.2383C>T (p.Gln795Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1709758	1709758	002290100	1708112	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2042902664	9495459	9495460	3p25.3	C	CA	Pathogenic	NM_001080517.3(SETD5):c.2386dup (p.Thr796fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/975161	975161	001251632	963551	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1559451052	9495464	9495465	3p25.3	CAT	C	Pathogenic	NM_001080517.3(SETD5):c.2388_2389del (p.Ser797fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/619990	619990	000760190	611386	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9495470	9495471	3p25.3	T	TG	Likely pathogenic	NM_001080517.3(SETD5):c.2395dup (p.Val799fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1895398	1895398	002512477	1952200	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9495513	9495514	3p25.3	G	GA	Pathogenic	NM_001080517.3(SETD5):c.2438dup (p.Asn814fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1708229	1708229	002287602	1706528	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9495549	9495550	3p25.3	G	GC	Pathogenic	NM_001080517.3(SETD5):c.2474dup (p.Asp826fs)	SETD5	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2273594	2273594	002826533	2265146	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575508937	9495554	9495554	3p25.3	T	C	Likely pathogenic	NM_001080517.3(SETD5):c.2476+2T>C	SETD5	Polymicrogyria	300388	35981	http://www.ncbi.nlm.nih.gov/clinvar/variation/812760	812760	001003580	801078	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9506089	9506376	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_9506089)_(9506376_?)del	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459974	1459974	001951360	1481331	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553635477	9506139	9506140	3p25.3	C	CT	Pathogenic	NM_001080517.3(SETD5):c.2508dup (p.Arg837fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/438303	438303	000505197	431908	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9506145	9506145	3p25.3	A	G	Likely pathogenic	NM_001080517.3(SETD5):c.2513A>G (p.Tyr838Cys)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2577966	2577966	003325372	2742856	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9506153	9506153	3p25.3	G	T	Pathogenic	NM_001080517.3(SETD5):c.2521G>T (p.Glu841Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1679259	1679259	002226856	1671182	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9506184	9506184	3p25.3	CT	C	Likely pathogenic	NM_001080517.3(SETD5):c.2552del (p.Leu851fs)	SETD5	Rare genetic intellectual disability	NA	183757	http://www.ncbi.nlm.nih.gov/clinvar/variation/978382	978382	001256989	966511	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2044336029	9506220	9506221	3p25.3	C	CA	Likely pathogenic	NM_001080517.3(SETD5):c.2591dup (p.Ser865fs)	SETD5	Autism spectrum disorder	NA	106	http://www.ncbi.nlm.nih.gov/clinvar/variation/978855	978855	001257623	966946	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9506270	9506270	3p25.3	G	T	Pathogenic	NM_001080517.3(SETD5):c.2638G>T (p.Glu880Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1800584	1800584	002461723	1857873	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553635637	9506276	9506276	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/493356	493356	000585620|001783089	486319	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2044345693	9506316	9506328	3p25.3	CTTACTACTGCTAG	C	Pathogenic	NM_001080517.3(SETD5):c.2685_2697del (p.Thr896fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/988373	988373	001269690	976256	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9506317	9506318	3p25.3	T	TA	Pathogenic	NM_001080517.3(SETD5):c.2686dup (p.Thr896fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2502811	2502811	003229484	2667916	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2045177486	9512152	9512152	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter)	SETD5	Cornelia de Lange-like syndrome|not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|Developmental disorder	NA|NA|615761|NA	NA|NA|404440|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/981701	981701	001261243|001528943|001788437|001843575	969774	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1553638715	9512171	9512172	3p25.3	C	CA	Pathogenic	NM_001080517.3(SETD5):c.2757dup (p.Val920fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/500789	500789	000595114	492213	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9512202	9512202	3p25.3	AC	A	Pathogenic	NM_001080517.3(SETD5):c.2784del (p.Asn928fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2018963	2018963	002846747	2069199	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2045187265	9512225	9512227	3p25.3	TAC	AA	Pathogenic	NM_001080517.3(SETD5):c.2807_2809delinsAA (p.Leu936fs)	SETD5	Neurodevelopmental abnormality	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/984543	984543	001264624	972641	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs936256673	9512255	9512255	3p25.3	C	T	Likely pathogenic	NM_001080517.3(SETD5):c.2837C>T (p.Pro946Leu)	SETD5	NK-cell enteropathy	NA	263665	http://www.ncbi.nlm.nih.gov/clinvar/variation/638631	638631	000791316	626399	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9512299	9512299	3p25.3	A	T	Pathogenic	NM_001080517.3(SETD5):c.2881A>T (p.Arg961Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1678815	1678815	002226129	1670609	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553638877	9512326	9512327	3p25.3	G	GT	Pathogenic	NM_001080517.3(SETD5):c.2909dup (p.Arg971fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/453120	453120	000521078	443525	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9512382	9512383	3p25.3	C	CCCTTTGAA	Pathogenic	NM_001080517.3(SETD5):c.2965_2972dup (p.Asn991_Ala992insLeuTer)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1070036	1070036	001382043	1059908	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9512401	9512401	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.2983C>T (p.Arg995Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1073863	1073863	001386977	1059909	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9512415	9512416	3p25.3	G	GT	Pathogenic	NM_001080517.3(SETD5):c.2998dup (p.Tyr1000fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2500265	2500265	003224922	2523163	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9512419	9512419	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|Inborn genetic diseases|not provided	615761|NA|NA	404440|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/127104	127104	000114962|000623271|002274913	132613	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2045208860	9512434	9512434	3p25.3	AG	A	Pathogenic	NM_001080517.3(SETD5):c.3016del (p.Val1006fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/987474	987474	001268865	975115	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9512456	9512456	3p25.3	CA	C	Pathogenic	NM_001080517.3(SETD5):c.3038del (p.His1013fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075967	1075967	001389696	1059910	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1197870764	9512584	9512585	3p25.3	G	GC	Pathogenic	NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs)	SETD5	not provided|Developmental disorder	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/987264	987264	001268576|003127745	975116	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9512608	9512608	3p25.3	GA	G	Pathogenic	NM_001080517.3(SETD5):c.3195del (p.Val1066fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1702644	1702644	002278962	1695031	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553639194	9512614	9512614	3p25.3	G	T	Likely pathogenic	NM_001080517.3(SETD5):c.3195+1G>T	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/489248	489248	000578966|003313109	481707	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2045524028	9514938	9514938	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|Inborn genetic diseases|not provided	615761|NA|NA	404440|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/975162	975162	001251633|001265906|001555251	963552	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs886041755	9514970	9514970	3p25.3	CT	C	Pathogenic	NM_001080517.3(SETD5):c.3246del (p.Ala1083fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/280577	280577	000385861	264156	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9514977	9514977	3p25.3	TG	T	Pathogenic	NM_001080517.3(SETD5):c.3257del (p.Gly1086fs)	SETD5	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2268551	2268551	002793921	2253633	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1064796348	9514988	9514989	3p25.3	ACT	A	Pathogenic	NM_001080517.3(SETD5):c.3266_3267del (p.Ser1089fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/423295	423295	000479034	406368	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1064795732	9515001	9515001	3p25.3	A	T	Likely pathogenic	NM_001080517.3(SETD5):c.3277A>T (p.Lys1093Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/422363	422363	000479787	406369	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9515025	9515025	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.3301C>T (p.Gln1101Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1458566	1458566	001956437	1468277	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553640320	9515083	9515083	3p25.3	GC	G	Likely pathogenic	NM_001080517.3(SETD5):c.3361del (p.Arg1121fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/503825	503825	000599571	495213	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9515085	9515085	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.3361C>T (p.Arg1121Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2002358	2002358	002832953	2061582	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2045541526	9515091	9515092	3p25.3	C	CG	Likely pathogenic	NM_001080517.3(SETD5):c.3367_3368insG (p.Pro1123fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/916061	916061	001171562	904286	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9515200	9515201	3p25.3	CAA	C	Likely pathogenic	NM_001080517.3(SETD5):c.3476_3477del (p.Gln1159fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2431600	2431600	003142236	2405104	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559496157	9516155	9516155	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/620570	620570	000760958	611601	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1181898358	9516161	9516161	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.3526C>T (p.Arg1176Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/432259	432259	000498489	425581	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9516191	9516191	3p25.3	C	T	Pathogenic	NM_001080517.3(SETD5):c.3556C>T (p.Arg1186Ter)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/1801347	1801347	002463408	1858634	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9516204	9516204	3p25.3	AG	A	Pathogenic	NM_001080517.3(SETD5):c.3571del (p.Val1191fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2011574	2011574	002829608	2070803	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs763827023	9516221	9516221	3p25.3	G	T	Pathogenic	NM_001080517.3(SETD5):c.3586G>T (p.Glu1196Ter)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/545085	545085	000656304	535300	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9516266	9516266	3p25.3	G	A	Likely pathogenic	NM_001080517.3(SETD5):c.3631G>A (p.Asp1211Asn)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/620047	620047	000760257	611464	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9516267	9516267	3p25.3	G	A	Pathogenic	NM_001080517.3(SETD5):c.3631+1G>A	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075980	1075980	001389711	1059911	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9516267	9516267	3p25.3	G	C	Likely pathogenic	NM_001080517.3(SETD5):c.3631+1G>C	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2573085	2573085	003315199	2738027	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553640838	9516267	9516267	3p25.3	G	T	Likely pathogenic	NM_001080517.3(SETD5):c.3631+1G>T	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/436694	436694	000502788	428233	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs587777328	9517216	9517217	3p25.3	A	AG	Pathogenic	NM_001080517.3(SETD5):c.3771dup (p.Ser1258fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/127105	127105	000114963	132614	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9517216	9517217	3p25.3	CAG	C	Likely pathogenic	NM_001080517.3(SETD5):c.3772_3773del (p.Ser1258fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2446249	2446249	003156603	2419671	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553641424	9517224	9517225	3p25.3	T	TC	Likely pathogenic	NM_001080517.3(SETD5):c.3783dup (p.Phe1262fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/419013	419013	000486147	406371	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553641476	9517294	9517295	3p25.3	A	AC	Pathogenic/Likely pathogenic	NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|Inborn genetic diseases	NA|615761|NA	NA|404440|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/450756	450756	000523957|000987091|003362814	443526	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9517295	9517295	3p25.3	AC	A	Likely pathogenic	NM_001080517.3(SETD5):c.3855del (p.Ser1286fs)	SETD5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	615761	404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/2573049	2573049	003315163	2737991	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2045779618	9517301	9517302	3p25.3	CCT	C	Pathogenic	NM_001080517.3(SETD5):c.3858_3859del (p.His1287fs)	SETD5	not provided|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	NA|615761	NA|404440	http://www.ncbi.nlm.nih.gov/clinvar/variation/872478	872478	001092957|002221263	859313	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1064796001	9517395	9517395	3p25.3	GA	G	Likely pathogenic	NM_001080517.3(SETD5):c.3949del (p.Thr1317fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/422791	422791	000481753	406372	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553641753	9517551	9517552	3p25.3	C	CTGAG	Likely pathogenic	NM_001080517.3(SETD5):c.4107_4110dup (p.Ser1371fs)	SETD5	not provided|See cases	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/987185	987185	001268455|003232279	975117	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9517565	9517566	3p25.3	C	CT	Likely pathogenic	NM_001080517.3(SETD5):c.4122dup (p.Pro1375fs)	SETD5	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1176143	1176143	001531556	1165689	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs754777692	9695344	9695344	3p25.3	C	T	Likely pathogenic	NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter)	MTMR14	Autosomal dominant centronuclear myopathy	160150	169189	http://www.ncbi.nlm.nih.gov/clinvar/variation/1028507	1028507	001329564	1016328	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9775826	9775826	3p25.3	T	G	Likely pathogenic	NM_001003694.2(BRPF1):c.2T>G (p.Met1Arg)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064563	1064563	001374610	1052796	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553693702	9775827	9775827	3p25.3	G	A	Pathogenic	NM_001003694.2(BRPF1):c.3G>A (p.Met1Ile)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/489079	489079	000578917	481708	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553693712	9775851	9775852	3p25.3	CTT	C	Pathogenic	NM_001003694.2(BRPF1):c.28_29del (p.Phe10fs)	BRPF1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/522172	522172	000624851	511516	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2076901423	9775891	9775891	3p25.3	T	C	Likely pathogenic	NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/975193	975193	001251695	963553	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1057519517	9775927	9775928	3p25.3	T	TA	Pathogenic	NM_001003694.2(BRPF1):c.104dup (p.Tyr35Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375493	375493	000416965	362303	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553693863	9776110	9776110	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/440978	440978	000509413	434588	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1057519511	9776184	9776185	3p25.3	CAG	C	Pathogenic	NM_001003694.2(BRPF1):c.362_363del (p.Glu121fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis|Neurodevelopmental disorder	617333|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375486	375486	000417031|000505254	362296	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9776380	9776380	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.556C>T (p.Gln186Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1164021	1164021	001788504	1153019	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575147387	9776382	9776394	3p25.3	GGACACCCCTGAT	AGGTAGAGGTG	Pathogenic	NM_001003694.2(BRPF1):c.558_570delinsAGGTAGAGGTG (p.Asp187fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817938	817938	001009170	805369	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1057519516	9776391	9776391	3p25.3	CT	C	Pathogenic	NM_001003694.2(BRPF1):c.567del (p.Asp190fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375492	375492	000417029	362302	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9776421	9776421	3p25.3	AC	A	Pathogenic	NM_001003694.2(BRPF1):c.598del (p.Arg200fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2435595	2435595	003135872	2410844	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2076988126	9780785	9780786	3p25.3	CAG	C	Likely pathogenic	NM_001003694.2(BRPF1):c.704_705del (p.Glu235fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/872479	872479	001092958	859314	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9780834	9780834	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter)	BRPF1	not provided|Inborn genetic diseases|Intellectual developmental disorder with dysmorphic facies and ptosis	NA|NA|617333	NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1413493	1413493	001925980|002556360|003125979	1461533	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9780870	9780870	3p25.3	TA	T	Pathogenic	NM_001003694.2(BRPF1):c.789del (p.Gly264fs)	BRPF1	BRPF1-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2633009	2633009	003397781	2803841	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9780966	9780967	3p25.3	CAT	C	Pathogenic	NM_001003694.2(BRPF1):c.883_884del (p.Met295fs)	BRPF1	not provided|Inborn genetic diseases	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1706236	1706236	002284766|003101636	1704550	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9780981	9780981	3p25.3	G	A	Likely pathogenic	NM_001003694.2(BRPF1):c.898G>A (p.Val300Met)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1698831	1698831	002272688	1691207	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553695017	9780987	9780987	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.904C>T (p.Gln302Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/559906	559906	000677700	550597	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2076991221	9780999	9780999	3p25.3	CG	C	Pathogenic	NM_001003694.2(BRPF1):c.917del (p.Gly306fs)	BRPF1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/985556	985556	001266529	973392	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9781028	9781028	3p25.3	G	A	Pathogenic	NM_001003694.2(BRPF1):c.945G>A (p.Trp315Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2442378	2442378	003149151	2416091	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553695038	9781036	9781036	3p25.3	G	A	Likely pathogenic	NM_001003694.2(BRPF1):c.953G>A (p.Arg318His)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/445981	445981	000513722	439253	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9781047	9781047	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.964C>T (p.Gln322Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1685592	1685592	002249319	1677608	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9781119	9781119	3p25.3	CG	C	Likely pathogenic	NM_001003694.2(BRPF1):c.1038del (p.Arg347fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1343509	1343509	001844526	1335208	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs886041090	9781133	9781134	3p25.3	ATG	A	Pathogenic	NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs)	BRPF1	Intellectual disability|Intellectual developmental disorder with dysmorphic facies and ptosis	NA|617333	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/268185	268185	000258899|000417023	263800	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2076993987	9781184	9781184	3p25.3	TC	T	Pathogenic	NM_001003694.2(BRPF1):c.1102del (p.Phe367_Leu368insTer)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/986815	986815	001267928	975118	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1057519509	9781191	9781191	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.1108C>T (p.Pro370Ser)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375484	375484	000416949	362294	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2076994968	9781240	9781241	3p25.3	G	GC	Likely pathogenic	NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/984637	984637	001264737	972715	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1057519515	9781248	9781248	3p25.3	T	C	Pathogenic	NM_001003694.2(BRPF1):c.1165T>C (p.Cys389Arg)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375491	375491	000417004	362301	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575155995	9781265	9781266	3p25.3	CAG	C	Pathogenic	NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis|Sudden unexplained death in childhood|Global developmental delay|not provided	617333|NA|NA|NA	NA|NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/810669	810669	000999467|001788390|001526572|002068746	798955	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	9781299	9781300	3p25.3	T	TA	Pathogenic	NM_001003694.2(BRPF1):c.1217dup (p.Tyr406Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1805707	1805707	002472125	1862718	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553695222	9781301	9781301	3p25.3	C	G	Pathogenic	NM_001003694.2(BRPF1):c.1218C>G (p.Tyr406Ter)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/489378	489378	000579243	481709	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553695254	9781383	9781383	3p25.3	CA	C	Pathogenic	NM_001003694.2(BRPF1):c.1300del (p.Thr434fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/503926	503926	000598636	495474	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2076997522	9781396	9781396	3p25.3	GT	G	Pathogenic	NM_001003694.2(BRPF1):c.1313del (p.Val438fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/975192	975192	001251694	963555	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1057519510	9781446	9781446	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis|not provided|Inborn genetic diseases	617333|NA|NA	NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375485	375485	000416994|000522140|001265681	362295	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2077000019	9781496	9781496	3p25.3	AG	A	Pathogenic	NM_001003694.2(BRPF1):c.1414del (p.Glu472fs)	BRPF1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/986148	986148	001267406	973393	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9781516	9781516	3p25.3	G	A	Pathogenic/Likely pathogenic	NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1333613	1333613	001808301	1324384	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2077001976	9781622	9781623	3p25.3	G	GC	Pathogenic	NM_001003694.2(BRPF1):c.1542dup (p.Cys515fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/986874	986874	001268019	975119	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9782570	9782570	3p25.3	T	A	Likely pathogenic	NM_001003694.2(BRPF1):c.1667T>A (p.Leu556Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1333633	1333633	001808849	1324404	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9783014	9783014	3p25.3	G	A	Pathogenic	NM_001003694.2(BRPF1):c.1745G>A (p.Trp582Ter)	BRPF1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2479150	2479150	003199246	2454181	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9783022	9783025	3p25.3	TAAAG	T	Pathogenic	NM_001003694.2(BRPF1):c.1755_1758del (p.Lys585fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1695061	1695061	002263311	1687491	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559662068	9783024	9783025	3p25.3	AG	T	Likely pathogenic	NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/623648	623648	000761594	612474	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559662077	9783028	9783028	3p25.3	C	T	Likely pathogenic	NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/625524	625524	000767529	613827	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9783043	9783044	3p25.3	C	CA	Pathogenic	NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1700216	1700216	002274465	1692610	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9784653	9784653	3p25.3	A	G	Pathogenic	NM_001003694.2(BRPF1):c.2027A>G (p.Lys676Arg)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1685593	1685593	002249320	1677609	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9784689	9784690	3p25.3	T	TG	Likely pathogenic	NM_001003694.2(BRPF1):c.2065dup (p.Glu689fs)	BRPF1	Neurodevelopmental disorder	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1321978	1321978	001780058	1312296	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9784879	9784879	3p25.3	CG	C	Pathogenic	NM_001003694.2(BRPF1):c.2255del (p.Gly752fs)	BRPF1	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1098370	1098370	001420281	1087043	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9784887	9784888	3p25.3	A	AT	Likely pathogenic	NM_001003694.2(BRPF1):c.2262dup (p.Ile755fs)	BRPF1	BRPF1-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2635330	2635330	003393033	2802230	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553696275	9784933	9784934	3p25.3	AAG	A	Pathogenic	NM_001003694.2(BRPF1):c.2308_2309del (p.Asp770fs)	BRPF1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/521076	521076	000622875	511517	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2077062359	9784938	9784938	3p25.3	G	A	Pathogenic	NM_001003694.2(BRPF1):c.2311+1G>A	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/975191	975191	001251693	964024	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9785347	9785347	3p25.3	TG	T	Likely pathogenic	NM_001003694.2(BRPF1):c.2398del (p.Asp800fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1335931	1335931	001822113	1326944	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9785368	9785381	3p25.3	AGCAGAGTGTGGGCC	A	Pathogenic	NM_001003694.2(BRPF1):c.2420_2433del (p.Gln807fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1703728	1703728	003147746	1696117	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9785380	9785401	3p25.3	CCGCTCACGGCGTGCAAAGATG	TCTGGCATC	Pathogenic	NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)	BRPF1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2536853	2536853	003271265	2700503	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2077071992	9785408	9785409	3p25.3	GAA	G	Pathogenic	NM_001003694.2(BRPF1):c.2459_2460del (p.Lys820fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/987321	987321	001268652	975120	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1057519512	9785447	9785447	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.2497C>T (p.Arg833Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis|not provided	617333|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375487	375487	000416968|000521046	362297	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575164369	9785542	9785545	3p25.3	CAGAT	C	Pathogenic	NM_001003694.2(BRPF1):c.2594_2597del (p.Asp865fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/818056	818056	001009300	805370	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9786069	9786069	3p25.3	TC	T	Pathogenic	NM_001003694.2(BRPF1):c.2798del (p.Pro933fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325379	1325379	001784054	1315635	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9786072	9786074	3p25.3	GTG	TT	Likely pathogenic	NM_001003694.2(BRPF1):c.2800_2802delinsTT (p.Val934fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1701451	1701451	002275551	1693842	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9786093	9786093	3p25.3	CA	C	Likely pathogenic	NM_001003694.2(BRPF1):c.2821del (p.Ile941fs)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1206724	1206724	001574463	1197155	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9786724	9786724	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.2953C>T (p.Gln985Ter)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1675901	1675901	002214270	1667284	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1057519514	9786753	9786753	3p25.3	C	G	Pathogenic	NM_001003694.2(BRPF1):c.2982C>G (p.Tyr994Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375490	375490	000416973	362300	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2077100185	9786755	9786755	3p25.3	G	A	Likely pathogenic	NM_001003694.2(BRPF1):c.2984G>A (p.Arg995His)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/916258	916258	001171828	904443	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2077100499	9786789	9786790	3p25.3	ACT	A	Pathogenic	NM_001003694.2(BRPF1):c.3020_3021del (p.Asp1006_Ser1007insTer)	BRPF1	Intellectual disability	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/973120	973120	001249495	961440	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9786791	9786792	3p25.3	C	CGA	Likely pathogenic	NM_001003694.2(BRPF1):c.3020_3021insGA (p.Glu1008fs)	BRPF1	BRPF1-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2637292	2637292	003394451	2799970	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2077101479	9786840	9786840	3p25.3	G	T	Likely pathogenic	NM_001003694.2(BRPF1):c.3068+1G>T	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/983015	983015	001262817	970780	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9787256	9787256	3p25.3	G	A	Likely pathogenic	NM_001003694.2(BRPF1):c.3069-1G>A	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2441962	2441962	003148282	2415677	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9787340	9787340	3p25.3	G	A	Pathogenic	NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1685594	1685594	002249321	1677610	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9787549	9787550	3p25.3	T	TC	Likely pathogenic	NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1333744	1333744	001808959	1324514	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1057519513	9787588	9787588	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.3298C>T (p.Arg1100Ter)	BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375488	375488	000416985	362298	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9788005	9788005	3p25.3	C	T	Pathogenic	NM_001003694.2(BRPF1):c.3346C>T (p.Arg1116Ter)	BRPF1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2505774	2505774	003236006	2670738	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553697341	9788114	9788116	3p25.3	CTCT	C	Likely pathogenic	NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)	BRPF1	not provided|Intellectual developmental disorder with dysmorphic facies and ptosis	NA|617333	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/452827	452827	000522651|000576662	443527	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs142932960	9880832	9880832	3p25.3	G	A	Likely pathogenic	NM_173659.5(RPUSD3):c.724C>T (p.His242Tyr)	RPUSD3	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/225005	225005	000210730	226898	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs767103943	9881922	9881922	3p25.3	G	A	Likely pathogenic	NM_173659.5(RPUSD3):c.646C>T (p.Arg216Cys)	RPUSD3	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/225035	225035	000210726	226899	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs587776968	9908979	9908979	3p25.3	C	A	Pathogenic	NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter)	CIDEC	CIDEC-related familial partial lipodystrophy	615238	435651	http://www.ncbi.nlm.nih.gov/clinvar/variation/50400	50400	000043528	59522	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs786205704	9932446	9932446	3p25.3	G	A	Pathogenic	NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser)	JAGN1	Severe congenital neutropenia	NA	42738	http://www.ncbi.nlm.nih.gov/clinvar/variation/190480	190480	000170603	188298	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs786205705	9934806	9934806	3p25.3	C	G	Pathogenic	NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter)	JAGN1	Severe congenital neutropenia	NA	42738	http://www.ncbi.nlm.nih.gov/clinvar/variation/190481	190481	000170604	188300	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9934837	9934838	3p25.3	CTT	C	Likely pathogenic	NM_032492.4(JAGN1):c.330_331del (p.Ser111fs)	JAGN1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1176145	1176145	001531558	1165691	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs587777730	9934994	9934994	3p25.3	A	G	Pathogenic	NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	JAGN1	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency|Severe congenital neutropenia	616022|NA	423384|42738	http://www.ncbi.nlm.nih.gov/clinvar/variation/156116	156116	000144165|000170605	165915	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1057518751	9959678	9959678	3p25.3	C	T	Pathogenic	NM_153460.4(IL17RC):c.199C>T (p.Gln67Ter)	IL17RC	Candidiasis, familial, 9	616445	1334	http://www.ncbi.nlm.nih.gov/clinvar/variation/372243	372243	000412591	359148	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs755012426	9965912	9965915	3p25.3	CACAG	C	Likely pathogenic	NM_153460.4(IL17RC):c.763-2_764del	IL17RC	Candidiasis, familial, 9	616445	1334	http://www.ncbi.nlm.nih.gov/clinvar/variation/2501672	2501672	003227540	2524609	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9969850	9979790	3p25.3	NA	NA	Likely pathogenic	GRCh37/hg19 3p25.3(chr3:9969850-9979790)x1	CRELD1;IL17RC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/809601	809601	000998199	798878	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs143600903	9970030	9970030	3p25.3	C	T	Likely pathogenic	NM_153460.4(IL17RC):c.919C>T (p.Gln307Ter)	IL17RC	Candidiasis, familial, 9|not provided	616445|NA	1334|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/372245	372245	000412524|002307492	359150	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9970100	9970100	3p25.3	G	A	Likely pathogenic	NM_153460.4(IL17RC):c.989G>A (p.Trp330Ter)	IL17RC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1275790	1275790	001682667	1265671	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9976567	9976567	3p25.3	T	C	Pathogenic	NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)	CRELD1	Congenital heart defects, multiple types, 4	615779	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2574123	2574123	003318479	2739070	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575631130	9976596	9976599	3p25.3	AAGAC	A	Likely pathogenic	NM_001077415.3(CRELD1):c.254_257del (p.Asp85fs)	CRELD1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817355	817355	001008476	805371	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs121912626	9982557	9982557	3p25.3	C	G	risk factor	NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala)	CRELD1	Atrioventricular septal defect, susceptibility to, 2	606217	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/3430	3430	000003599	18469	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	9982660	9982660	3p25.3	G	T	Pathogenic	NM_001077415.3(CRELD1):c.587G>T (p.Gly196Val)	CRELD1	Ventricular septal defect 1	614429	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2574124	2574124	003318480	2739071	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575650682	9984763	9984764	3p25.3	CTG	C	Likely pathogenic	NM_001077415.3(CRELD1):c.822_823del (p.Ala275fs)	CRELD1	Atrioventricular septal defect, susceptibility to, 2	606217	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/633463	633463	000782366	621894	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9984806	9984806	3p25.3	G	T	Pathogenic	NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)	CRELD1	Congenital heart defects, multiple types, 4	615779	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2574125	2574125	003318481	2739072	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553600601	9985109	9985110	3p25.3	C	CA	Likely pathogenic	NM_001077415.3(CRELD1):c.959dup (p.Cys321fs)	CRELD1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/546927	546927	000658950	537416	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	9985648	9985648	3p25.3	C	A	Pathogenic	NM_001077415.3(CRELD1):c.1049-401C>A	CRELD1	Ventricular septal defect 1	614429	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2574126	2574126	003318482	2739073	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs121912627	9986240	9986240	3p25.3	G	A	risk factor	NM_001077415.3(CRELD1):c.1240G>A (p.Glu414Lys)	CRELD1	Atrioventricular septal defect, susceptibility to, 2	606217	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/3431	3431	000003600	18470	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10068070	10074515	3p25.3	NA	NA	Likely pathogenic	NC_000003.11:g.(?_10068070)_(10070406_10074515)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1722465	1722465	002302579	1779975	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10068070	10101977	3p25.3	NA	NA	Likely pathogenic	NC_000003.11:g.(?_10068070)_(10094182_10101977)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1698580	1698580	002271857	1690956	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10070332	10085558	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10028648)_(10043874_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/583633	583633	000707920	562157	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10070332	10088417	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10028648)_(10046733_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/584150	584150	000708345	561042	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10070342	10074666	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10070342)_(10074666_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1070736	1070736	001382984	1057024	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10070342	10094191	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10070342)_(10094191_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1457757	1457757	001949323	1471324	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10070342	10140634	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10070342)_(10140634_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1460433	1460433	001963306	1504484	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10070342	10191719	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10070342)_(10191719_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1456081	1456081	001950967	1458023	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2086516483	10070343	10070343	3p25.3	T	C	Pathogenic	NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929652	929652	001194913	917960	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575723664	10070377	10070378	3p25.3	T	TA	Likely pathogenic	NM_001018115.3(FANCD2):c.39dup (p.Glu14fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/812894	812894	001003800	801068	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10070406	10070407	3p25.3	AGT	A	Likely pathogenic	NM_001018115.3(FANCD2):c.64+1_64+2del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067913	1067913	001379297	1055271	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10070406	10094070	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(10028722_10032831)_(10049506_10052386)del	FANCD2	Fanconi anemia complementation group A	227650	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929653	929653	001194914	917985	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10070407	10070407	3p25.3	T	G	Likely pathogenic	NM_001018115.3(FANCD2):c.64+2T>G	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2	NA|227646	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1523794	1523794	002048995|002486780	1347090	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10074510	10085282	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10074510)_(10085282_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1076764	1076764	001390755	1057025	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10074539	10074539	3p25.3	CA	C	Likely pathogenic	NM_001018115.3(FANCD2):c.92del (p.Lys31fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1324378	1324378	001781083	1314650	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10074547	10074550	3p25.3	CAAAG	C	Pathogenic	NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322879	1322879	001783254	1313176	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1221526082	10074641	10074644	3p25.3	GAGTC	G	Pathogenic	NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/961904	961904	001235668	943203	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10074657	10074657	3p25.3	G	A	Likely pathogenic	NM_001018115.3(FANCD2):c.205+1G>A	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1486216	1486216	002030604	1468693	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs771573600	10076151	10076151	3p25.3	A	T	Pathogenic	NM_001018115.3(FANCD2):c.206-2A>T	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929641	929641	001194900	917961	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10076152	10076152	3p25.3	G	T	Likely pathogenic	NM_001018115.3(FANCD2):c.206-1G>T	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1224523	1224523	001615373	1214501	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10076174	10076174	3p25.3	CA	C	Likely pathogenic	NM_001018115.3(FANCD2):c.230del (p.Lys77fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322877	1322877	001783252	1313174	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10076181	10076182	3p25.3	G	GC	Pathogenic	NM_001018115.3(FANCD2):c.235dup (p.Leu79fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454740	1454740	001939570	1445078	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10076406	10076407	3p25.3	GGA	G	Likely pathogenic	NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1179043	1179043	001535858	1168626	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs764507146	10076481	10076481	3p25.3	A	G	Pathogenic	NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929642	929642	001194901	917962	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs943009372	10078024	10078024	3p25.3	G	A	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.491+1G>A	FANCD2	Fanconi anemia complementation group D2|Fanconi anemia|not provided	227646|NA|NA	84|84|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/577155	577155	001194902|000699836|003223671	559237	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10080953	10085558	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10080953)_(10085558_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427115	2427115	003122949	1950655	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10080976	10080976	3p25.3	G	T	Likely pathogenic	NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1324377	1324377	001781082	1314649	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553607671	10081023	10081024	3p25.3	C	CA	Pathogenic	NM_001018115.3(FANCD2):c.553dup (p.Arg185fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/526407	526407	000630932	518834	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2086819957	10081526	10081526	3p25.3	T	G	Pathogenic	NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929643	929643	001194903	917963	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2086862509	10083186	10083186	3p25.3	C	G	Pathogenic	NM_001018115.3(FANCD2):c.696-121C>G	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929644	929644	001194904	917964	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs2086865333	10083305	10083305	3p25.3	A	T	Pathogenic	NM_001018115.3(FANCD2):c.696-2A>T	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929645	929645	001194905	917965	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10083306	10083306	3p25.3	G	A	Pathogenic	NM_001018115.3(FANCD2):c.696-1G>A	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1379260	1379260	001883679	1486489	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10083317	10083318	3p25.3	GAT	G	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2	NA|227646	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1068891	1068891	001380571|002476719	1059545	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs374328858	10083368	10083368	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2|not provided	NA|227646|NA	84|84|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/653154	653154	000808868|001194906|001726335	630672	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10083385	10083385	3p25.3	TC	T	Pathogenic	NM_001018115.3(FANCD2):c.775del (p.Leu259fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1072917	1072917	001385764	1059546	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10083395	10088263	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929647	929647	001194908	917986	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10084233	10085286	3p25.3	NA	NA	Likely pathogenic	NC_000003.11:g.(?_10084233)_(10085286_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067968	1067968	001379373	1054328	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2086892010	10084249	10084249	3p25.3	C	T	Likely pathogenic	NM_001018115.3(FANCD2):c.790C>T (p.Gln264Ter)	FANCD2;LOC107303338	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/872481	872481	001092961	859206	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10084304	10084305	3p25.3	T	TA	Pathogenic	NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2133517	2133517	003040971	2190206	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs121917787	10084749	10084749	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	FANCD2	Fanconi anemia complementation group D2|Fanconi anemia	227646|NA	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/12040	12040	000012820|000809924	27079	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs121917788	10084803	10084803	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/12041	12041	000012821	27080	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10084827	10084827	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1456103	1456103	001970196	1458045	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs112832879	10085167	10085167	3p25.3	G	A	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.990-1G>A	FANCD2	not provided|Fanconi anemia complementation group D2|Fanconi anemia|Acute myeloid leukemia	NA|227646|NA|601626	NA|84|84|519	http://www.ncbi.nlm.nih.gov/clinvar/variation/381559	381559	000421802|001535895|002256229|003234557	366840	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10085196	10085196	3p25.3	C	T	Likely pathogenic	NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)	FANCD2	FANCD2-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2636458	2636458	003420938	2804661	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10085246	10085246	3p25.3	T	A	Likely pathogenic	NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter)	FANCD2	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1690778	1690778	002252370	1683186	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs763733996	10085255	10085256	3p25.3	C	CTGGA	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2|not provided	NA|227646|NA	84|84|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/935595	935595	001204226|002491613|002561149	931654	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs2086921262	10085270	10085270	3p25.3	G	A	Pathogenic	NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929649	929649	001194910	917968	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10088309	10088310	3p25.3	C	CA	Likely pathogenic	NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1692025	1692025	002257026	1684466	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10088329	10088330	3p25.3	C	CTTCTTTGTCTAATGTACTA	Pathogenic	NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1456818	1456818	001972482	1454920	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553608812	10088330	10088330	3p25.3	CA	C	Pathogenic	NM_001018115.3(FANCD2):c.1201del (p.Arg401fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/435148	435148	000501192	428109	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10088381	10088381	3p25.3	C	T	Likely pathogenic	NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2445900	2445900	003155819	2418852	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10089599	10089599	3p25.3	A	G	Likely pathogenic	NM_001018115.3(FANCD2):c.1279-2A>G	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1179148	1179148	001536029	1168627	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10089600	10089600	3p25.3	G	A	Pathogenic	NM_001018115.3(FANCD2):c.1279-1G>A	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1685810	1685810	002249977	1677824	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2087073639	10089641	10089642	3p25.3	CAG	C	Pathogenic	NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929654	929654	001194915	917971	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1181436417	10089692	10089692	3p25.3	T	C	Pathogenic	NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929655	929655	001194916	917972	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10089736	10094070	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929657	929657	001194918	917987	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1459222478	10089737	10089737	3p25.3	T	C	Likely pathogenic	NM_001018115.3(FANCD2):c.1413+2T>C	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/940933	940933	001210618	939919	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2087125303	10090986	10091444	3p25.3	TTGGGGGTGAATCCCTTTAGAATGGCCATCCATATTTTGTTTTACACTGTTCTGTTGACTCTCCCCTGTATAGGAAGTGGTTGGTGCCTTAGTGACCCATATCTGCAGTGGGAATGAAGCTGAAGTTGATACTGCCTTAGATGTCCTTCTAGAGTTGGTAGTGTTAAACCCATCTGCTATGATGATGAATGCTGTCTTTGTAAAGGTATCTTATTGGCTTCTTGTACTTTAGATATTGAATACTATAATTGGTGGGAGGTGGTGGGAAGGAGGTGAGATGATGGGCAAGTAATATAAATAAAAAGTGACTATTCTATCTATGTGTTAATTCATTCAGCAAACACTTCTTTATACCTAACCTACAGGCTAATCTCTATTCTGGGTGCTGTGAATGTAAAGTAGGCCCTTACCTTTCATGTTAAAGACTAAGACACATAAGCAAGTCACTATAAATACAACA	T	Pathogenic	NM_001018115.3(FANCD2):c.1414-69_1545+258del	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929656	929656	001194917	917989	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10091048	10140634	3p25.3	NA	NA	Likely pathogenic	NC_000003.11:g.(?_10091048)_(10140634_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1065982	1065982	001376844	1054329	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2087129514	10091093	10091093	3p25.3	GT	G	Pathogenic	NM_001018115.3(FANCD2):c.1449del (p.Ser483fs)	FANCD2	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/985042	985042	001265743	973320	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10091190	10101977	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929658	929658	001194919	917988	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10094051	11078652	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10094051)_(11078652_?)del	SLC6A1	Myoclonic-astatic epilepsy	NA	1942	http://www.ncbi.nlm.nih.gov/clinvar/variation/2424613	2424613	003444370	1949689	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10094061	10191659	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10052377)_(10149975_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/665653	665653	000823975	650954	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10094061	10191719	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10052377)_(10150035_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/833211	833211	001033667	819296	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10094065	10094065	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10094065-?_10191654+?del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1068736	1068736	001380375	1057077	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10094182	10094182	3p25.3	G	A	Likely pathogenic	NM_001018115.3(FANCD2):c.1656+1G>A	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2138815	2138815	003066428	1878488	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs748688174	10094182	10094182	3p25.3	G	T	Likely pathogenic	NM_001018115.3(FANCD2):c.1656+1G>T	FANCD2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/419854	419854	000480112	406054	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10103893	10103893	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1450768	1450768	002004937	1351289	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10103896	10103896	3p25.3	G	C	Likely pathogenic	NM_001018115.3(FANCD2):c.1827+1G>C	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1331388	1331388	001806732	1322109	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10105466	10107188	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10105466)_(10107188_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454434	1454434	001939490	1444777	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10105502	10105502	3p25.3	AT	A	Likely pathogenic	NM_001018115.3(FANCD2):c.1855del (p.Ser619fs)	FANCD2	FANCD2-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2631138	2631138	003404435	2803289	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10105514	10105515	3p25.3	GC	AT	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2	NA|227646	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1449465	1449465	002014522|002507683	1416521	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10105528	10105529	3p25.3	C	CCT	Pathogenic	NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1076243	1076243	001390067	1059547	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2087653225	10106024	10106024	3p25.3	T	G	Pathogenic	NM_001018115.3(FANCD2):c.1948-16T>G	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929659	929659	001194920	917973	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs779350241	10106034	10106034	3p25.3	C	A	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.1948-6C>A	FANCD2	Fanconi anemia complementation group D2|not provided|Fanconi anemia	227646|NA|NA	84|NA|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929660	929660	001194921|001531561|002282477	917974	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10106407	10106407	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10106407-?_10191654+?del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1070024	1070024	001382028	1057078	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10106407	10188326	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10064723)_(10146642_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/526503	526503	000631040	518703	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10106551	10106551	3p25.3	CA	C	Pathogenic	NM_001018115.3(FANCD2):c.2160del (p.Gly721fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322878	1322878	001783253	1313175	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs2087674573	10106559	10106560	3p25.3	AG	T	Likely pathogenic	NM_001018115.3(FANCD2):c.2168_2168+1delinsT	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/969639	969639	001245027	960494	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10107077	10107077	3p25.3	G	C	Likely pathogenic	NM_001018115.3(FANCD2):c.2169-1G>C	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1499355	1499355	002040195	1389058	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10107179	10107179	3p25.3	G	A	Likely pathogenic	NM_001018115.3(FANCD2):c.2269+1G>A	FANCD2;LOC107303338	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2653512	2653512	003433419	2819890	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10107551	10107551	3p25.3	G	A	Likely pathogenic	NM_001018115.3(FANCD2):c.2273G>A (p.Cys758Tyr)	FANCD2	Ovarian cancer	NA	213500	http://www.ncbi.nlm.nih.gov/clinvar/variation/2445392	2445392	003154802	2419118	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10107658	10107658	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)	FANCD2	Fanconi anemia complementation group D2|Fanconi anemia	227646|NA	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322885	1322885	001783260|001885160	1313182	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10108063	10114567	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10108063)_(10114567_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427116	2427116	003122950	1950657	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1374735618	10108911	10108911	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929661	929661	001194922	917975	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs766567785	10108951	10108951	3p25.3	G	A	Pathogenic	NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2	NA|227646	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/241735	241735	000234321|001194923	239039	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10108972	10108972	3p25.3	T	A	Pathogenic	NM_001018115.3(FANCD2):c.2465T>A (p.Leu822Ter)	FANCD2	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2613194	2613194	003373874	2773872	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1289665675	10108994	10108994	3p25.3	C	G	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)	FANCD2	Fanconi anemia|not provided|Fanconi anemia complementation group D2	NA|NA|227646	84|NA|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/526371	526371	000630893|000657573|001784202	518844	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10109003	10109003	3p25.3	T	C	Likely pathogenic	NM_001018115.3(FANCD2):c.2494+2T>C	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2	NA|227646	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067299	1067299	001378519|002221627	1055273	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10114545	10191719	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10072861)_(10150035_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/833032	833032	001033494	819299	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs762544228	10114991	10114991	3p25.3	GA	G	Likely pathogenic	NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)	FANCD2	Fanconi anemia complementation group D2|not provided	227646|NA	84|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/929662	929662	001194924|003313185	917976	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs201811817	10115047	10115047	3p25.3	G	A	Pathogenic	NM_001018115.3(FANCD2):c.2715+1G>A	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2|not provided	NA|227646|NA	84|84|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/667394	667394	000826140|001194925|001593026	654309	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10116254	10116255	3p25.3	A	AT	Pathogenic	NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2077162	2077162	002985384	2131221	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1693433379	10116273	10116274	3p25.3	CC	TT	Pathogenic	NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929663	929663	001194926	917977	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1693439048	10116332	10116333	3p25.3	T	TC	Pathogenic	NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929664	929664	001194927	917978	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10116343	10116343	3p25.3	G	T	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)	FANCD2	Fanconi anemia|Fanconi anemia complementation group D2	NA|227646	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075925	1075925	001389630|002499814	1059549	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1693633153	10119818	10119819	3p25.3	ATC	A	Pathogenic	NM_001018115.3(FANCD2):c.2917_2918del (p.Ser973fs)	FANCD2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/929665	929665	001194928	917979	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10119863	10119864	3p25.3	GGA	G	Pathogenic	NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2048560	2048560	002909260	2103861	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10122782	10122782	3p25.3	A	G	Pathogenic	NM_001018115.3(FANCD2):c.2977-2A>G	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322882	1322882	001783257	1313179	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10122831	10122831	3p25.3	CT	C	Pathogenic	NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2035666	2035666	002877578	2097450	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559399574	10122901	10122901	3p25.3	CA	C	Likely pathogenic	NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/623166	623166	000761274	612082	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10122910	10122910	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2027396	2027396	002889459	2081469	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10123080	10123081	3p25.3	T	TGGAC	Pathogenic	NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2191507	2191507	002620636	1931950	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10123110	10123117	3p25.3	ATCAGAGGC	A	Pathogenic	NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1457282	1457282	001953679	1478017	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575824608	10123139	10123139	3p25.3	CT	C	Likely pathogenic	NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/812895	812895	001003801	801069	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1468320596	10123149	10123149	3p25.3	G	T	Likely pathogenic	NM_001018115.3(FANCD2):c.3224+1G>T	FANCD2	not provided|Fanconi anemia complementation group D2|Fanconi anemia	NA|227646|NA	NA|84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/809378	809378	000997939|001784532|001869401	795296	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10127476	10136978	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10127476)_(10136978_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427113	2427113	003122947	1950653	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10127540	10127540	3p25.3	GC	G	Pathogenic	NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2028932	2028932	002894029	2081726	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10127560	10127560	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2079849	2079849	002998835	2139070	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10127570	10127571	3p25.3	CAG	C	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)	FANCD2	Fanconi anemia complementation group D2|Fanconi anemia	227646|NA	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322880	1322880	001783255|002256840	1313177	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10128763	10188569	3p25.3	NA	NA	Pathogenic	GRCh37/hg19 3p25.3(chr3:10128763-10188569)x1	BRK1;FANCD2;FANCD2OS;VHL	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/253501	253501	000240014	247949	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10128819	10128819	3p25.3	C	T	Likely pathogenic	NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1705663	1705663	002283977	1701747	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10128858	10128858	3p25.3	TC	T	Likely pathogenic	NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1324380	1324380	001781085	1314652	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10128867	10128867	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)	FANCD2	not provided|Fanconi anemia	NA|NA	NA|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1338373	1338373	001817744|002545180	1329381	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559403654	10128933	10128936	3p25.3	GAACA	G	Pathogenic	NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929666	929666	001194929	917980	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10130113	10133956	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10130113)_(10133956_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427114	2427114	003122948	1950654	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10130131	10130131	3p25.3	A	G	Likely pathogenic	NM_001018115.3(FANCD2):c.3467-2A>G	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2178191	2178191	002614801	1916001	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10130147	10130147	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)	FANCD2	not provided|Fanconi anemia	NA|NA	NA|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1298904	1298904	001727234|002032693	1288766	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10130166	10130166	3p25.3	G	A	Pathogenic	NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322883	1322883	001783258	1313180	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1694376599	10130207	10130207	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/964531	964531	001238768	943215	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10130227	10130227	3p25.3	G	A	Likely pathogenic	NM_001018115.3(FANCD2):c.3560+1G>A	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/2041518	2041518	002903032	2091679	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10130511	10130511	3p25.3	AG	A	Likely pathogenic	NM_001018115.3(FANCD2):c.3561-1del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1505370	1505370	001999489	1436937	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10130547	10130547	3p25.3	GC	G	Likely pathogenic	NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1704606	1704606	002282933	1699138	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1694404041	10130550	10130550	3p25.3	AT	A	Pathogenic	NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929667	929667	001194930	917981	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs771078251	10131998	10131998	3p25.3	C	A	Pathogenic	NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser)	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929668	929668	001194931	917982	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10132039	10132856	3p25.3	NA	NA	Likely pathogenic	NC_000003.11:g.(?_10132039)_(10132856_?)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1345612	1345612	002037420	1452480	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10132039	10132856	3p25.3	TTGAGCCTGGCACAGCAGCAGACTCGCAGCAGGTGAGTAAGATAATAGTCACTTCAAGAAGTGGACTTTGGATTACTTGGAAGTTGCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCTTGTTCTGTTGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGACTCCTGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACTTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGACGTGCGCCACTGCGCCCGGTGGTAGTTGCTGATTCTTCTATGTCTTGGGTCCAAGTTTTCTCCTAAGCTGTTTTTTGTTTTTGTTTTGTTTTGAGTTTCTGAGATTCAGGATTTTTTTTCAAAGAGTTCCTAGTTTAATTTCCTTTCCCTCTAGTTAGAGGTGAGGAATGGGCTCTCTTTTCCTTGGCTACTGCCCAGTTTGCCTCCTGCTAACTGGCATGAGGTAAGCCAGCCTGTTTGAGATACTGTGGATCTTGGCAGCCTGCTAACCAGAACGGAGCTAGACAAGTAAGAGAAAGGGCTAGCATAGGGAAGCAGAGAAGCTACAGCCAGTATATGTTTTTTCTTTTTTTTTTCTTTTTGAGACAGGGTCTGAGTCTGACATCCAGGTTGGAGTGTAGTGGTGCAAACTTGGCTCACTGCAGCCTTTGCCTTC	T	Likely pathogenic	NM_001018115.3(FANCD2):c.3749_3777+789del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1467582	1467582	001966450	1357088	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10132070	10132070	3p25.3	G	T	Pathogenic	NM_001018115.3(FANCD2):c.3777+1G>T	FANCD2	Fanconi anemia complementation group D2	227646	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1685811	1685811	002249978	1677825	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10132070	10136883	3p25.3	NA	NA	Likely pathogenic	NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1695997	1695997	002266140	1688406	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10133886	10133886	3p25.3	CT	C	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)	FANCD2	Fanconi anemia|not provided	NA|NA	84|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1070165	1070165	001382198|001531562	1059550	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs757499508	10133890	10133890	3p25.3	G	A	Pathogenic	NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)	FANCD2	Fanconi anemia complementation group D2|Fanconi anemia	227646|NA	84|84	http://www.ncbi.nlm.nih.gov/clinvar/variation/929670	929670	001194933|002255624	917984	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10133904	10133904	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)	FANCD2	Fanconi anemia complementation group D2|Fanconi anemia|not provided	227646|NA|NA	84|84|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1324381	1324381	001781086|001885181|003434317	1314653	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10135009	10135009	3p25.3	T	G	Pathogenic	NM_001018115.3(FANCD2):c.3888+2T>G	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1071033	1071033	001383373	1059551	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10136006	10136006	3p25.3	C	T	Pathogenic	NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1073865	1073865	001386981	1059552	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10136047	10136048	3p25.3	GG	CC	Likely pathogenic	NM_001018115.3(FANCD2):c.3963_3963+1inv	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1483718	1483718	002025505	1458503	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10138111	10138111	3p25.3	T	A	Pathogenic	NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter)	FANCD2	Fanconi anemia	NA	84	http://www.ncbi.nlm.nih.gov/clinvar/variation/1072175	1072175	001384826	1059553	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10160443	10184298	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10160443_10184298del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997719	997719	001293276	985434	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10167511	10193484	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10167511_10193484del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997720	997720	001293277	985435	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10169230	10194915	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10169230_10194915del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997736	997736	001293293	985436	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10170715	10188894	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10170715_10188894del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997737	997737	001293294	985437	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10175483	10183579	3p25.3	CATGTGATCCAACAATCTCACTTCTGGGTATATATACATAGGAAATGAAAATCAGTATTTTGAAGAGATATCTGCACTCCCATGTTCATTGCAGCACTATTCACAATAGCCACACTATGGAATCAAGTGTCCATTGCCAGACGAATGGATAAAGAAAATGTGCGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACATTGGGAGGCCAAGACGGGCAGATCACTTGAGATCAGGAATTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGCAGTGGTGGGCGCCTGTAATCCCAGTTACTCTGGAGGCTGAGGCAGGAGAATCGCCTAAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAATCAATTAATCGATCAATAAAATACGTTGAACTCACAAAAGCAGGCAGTACAATGGTGGTTGCCAGGGCCAGGGGAGTTGAGATGAAACAGGGAGATATTGGTCAAAGGGTACGAGTCACCCTTTTGGTTGGGAGGAATATATTCTGGACATCTGTTATACAGCATGATGACTATAGTTAATAAATAATGTATATTTGAAAATTGTTAAGAGTGTAGTTTTTTTTTTTTTTCTAAGACGGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGACAGAGCAGGAGCACTGTCATCTTGGACAAACACCACCACTTTAAGTTCCAGCTCCCTTTCTAGCCTCATACATTTCAAGGAAATCACTTCTCTTCTAACCACAAGCAGCCAGAAAGAGCAGACAGTAAAACACAGATAAGACAGCTTGGGCACAGAGGGAAGTAGGGGGAAAGTCTACTTTCCCCCTACTTGGGTAACTGGGTAACTGCCAAACTTCACCCTCATACAATGTGCCCCAGTAAAACAGTGGGCCTTAATAGGCACATTTCTTTCCCTCAGGTGCACTAAGATAGGGAAGCTAAAAGCAGACTCAGGGGACATGCCTGCAGCTGCAGAAAGATGTACGGGAACAGACAACTCTCCCGCCCAGGTAAGCACAACGAAGAGACACAGAAGCAGTCGAAGCCTCTGATAAACTCTCCCACCCTGAATCCTTAAAAACTCTGTAAGATTGTGCAGCTTCTGACCTAACTTGGTCAGAAATCCCTCCCAGGTTTGAAATAAACCTGTTGACTGTCAACCCACCCTTCATGTTTCTCTCCTTTAATTCTGACACTGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGCGTAGCTGGGACTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCAGACCTCAGATGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGCTTACAGGCATGAGCCACCGTGCCCAGCCAAAAGAGTAGATCTTAAATGTTCTCACCACAAAAAAACTGAAGTAATAAATACATTAGCTTTATTTTTTAAATTTTTAATTATTTTACAAAATAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCCTGAACTCTGGGCTCAAGCAATCCTCCCACCTGGGTCTCCCAAAGTGCTGGGATTAACAGACGTGAGCCACTGCACTTGGCCAGCTTGATTATTTTTTAATGGCAAACAAGCTCATGAAAAGATGCTCAACATTGTTAGTCACTAGAGAAGTGTGTCCAGAATTGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCAGACCCTTGCGGTGAGTGTTACAGTTCTCAAAGGTGGCGTGTCCAGAGTTTGTTCCTTCTGATGTTCGGATGTGTTCAGAGTTTGTTCCTTCTGGTGGCTGCGTGGTCTTGCTGGCTCAGGAGTGAAGCTGCAGACCACCGCGAGTATTACAGCTTTTAAAGCACTGCATCTAGAGTTTTTGGTTCCTCCAAGTGGGTTCGTGGTCTTGCTGGCTTCAGCAGACCTTCACGGTGAGCGTTACAGCTCACAAAGGCAATGCGGACCCAAAGAGTAAGCAATAACAATATTTACCGCAACGACTAAAAGAACAAACCTCTCACGACATACAAATGGACCCAACCGGGTTGCCACTGCTAGCTCTGGCAGCCTGCTTTTATTCTCTTACCTGGCCCCACCCACATCCTGCTGATTGGTCCATTTTACAGAGAGCCCATTGGTCCATTTTACAGAGAGCTGATTGGTCCGTTTTGACAGGGTGCTGATTGGTGTGTTTACAATCCCTGAGCTAAACACAAAGGTTCTCCAAGTCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCCAATTGGTGTATTTACAATCCCTTACCTAGACATAAAGGTTCTCCAAGTCCCCACCAGACTTAGGAGCCCAGCTGGCTTCACCCAGTGGATCCTGCACCGGGGCGCAGGTGGAGCTGCCTGCCAGTCCCGCACCCTGCACCTGCACTCCTCAGCCCTCAGGTGGTTGATGGGACTGGGCGCAGTGGAGCAGGGGGTGGCGCTCGTCGGGGAGGCTCGGGTGGCACAGGAGCCCACGGAAGAGGGGGGAGGCTCAGGCATGGCGGGCTGCAGCTCCTGGGCCCTGCCCGGCTGGGAGGCAGCTAAGGCCCTGCGAGAAATTGAGCACAGCAGCTGCTGGCCCAGGTGATAAGCCCCTCACTGCCCTGGGCTTGCAGGCCGGCTGAGCCCACGCCCACCCGGAACTTGTGCTAGCCCACAAGCGCCACGGCAGCCCCGGTTCCCGCCCGCACCTCTCCCTCCACACCTCCCTGCAAGCTGAGGGAGCCGGCTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCCGCATGCTGGACAGCTCCTCAAGCGTGGCCAGAGTGGTGGCCAAGGCCAAGGAGGTGCCGAGAGTGAGCGAGGGCCGCGAGGGCTGCCAGCACATTGTCACCTCTCAGAAGTACAAATTAAACGTCAATAAGATACCACTATACATCAATTAGAATGGCTAAAATTTTTTTATTTTTAAAGAACAAAACCCCAGGCCAGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAGATACGAAAAGTTAGCTGGGCGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACATGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCGGCAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAACAAAACCTCAAATCTGATAATACCAACTGTAGACAAGAATGTGGAGCAACTGGAACAGTCATACATTGCTGGTGAGAATGCAAAATGATACAACTGCTCTGGGGAAACAGGTTAGCAATTTCTCATGAAGTTAAACATGTACTTTGTGTTTGACCTAGCAATCTCCTAGGTGATTCTCACCCAAGAGAAACAAAACTTATGTTTGCAAGAAACCTGTACACTAATGTATATAGCAACTTTATAATTGCTAAAAACTGGAAACAAACCAATATCTTGCAGTTGGTAAGTAGATAGTATGGAATACCCTTGGCAATAAAAATGAGTAAGTTATTATATACTACAACTTGGATGAATCTCAAATGCATTATGCTAAGTGAAAAAAAGCCAAACTCATAAGGCTACATATGATACGATTTTGTTGTGTGACATTCTGGAAAGGCAAAACTATAGGGACACAAGACAGACAGACCAGTGCTTGCCAGGGATTAACAGTGGAAGCAGGGTTTGACCATGAAGGAGTTTTGGGGGTGACAAGATACTCTGGTTTTTTTTTTTTTCTTGAGACAGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAAAAACTGGAAACGAAGTAAATATGGCAACATGCTAATTACATGTGACATTATCAGTATTTGCTTTATTATTGTACTTGTATATTTTAATTGGTCGACATACAAACAAGGCAAAATATATCCCCCTTAGAGAAAATTTGGAAAAGACAGAAAAGGAGATAGAACAAGTCACCAGTTGTCTTTATTTATTTATTGAAACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTCCGGTGGCGCCATCTCCGCTTACTGCAAGCTCTGCCTCTCGGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTGTTTTTGTATTTTTAGTGGAGACAGGGTTTCACTGGGTTAGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACTTGCTTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACCGGTTGTCTTTAGACATTGTATTTTTTATTCTTTTCTACATGTCTTTTTGCCTAATGAAAAGTGTACTGTAAGAAAAATTTTGCCTGTGTATTCTAAACTTGTTTCCTTTGCAACTTTTTCTTTTCTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTACCCAGGCTAAAGTGCAGTGTCGCGATCACAGTTCACTGCAGCCTTGACCTTCCTGAGCTCAGGTGATCCTCCAGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCACCCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACAGGATTTCATCATGTCGCCCAGCCTAGTGTCGAGCTCCTCAGCTCAAGTTATCCGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCACAAGCCACCGTGCTTGGCCACCCCTTCCTCTTAAATGATCTTTGAAACATTATTTGCAGTCTCAAAGCCTGCATTTATCTAAACAACTGGTTTCATTTTAGGGATGTAGGCATTTCTGTAATATTAAACTGTTATATTTCACCTCGCTAGCATGGGAGTACAACTGAGGGGATGTTTGCATGAATCTTGTGAATTATGATGGCTCTAAGCCATTGTAATTTGATTAACAGAAGTCCTACTTTGGGGTTTATCTTATTTTTATTATTTATTTATTTTTTGAGTGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTGGGCTCACTGCAACCTCTGCCTCTGGGGTTTAAGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAG	C	Pathogenic	NC_000003.12:g.10133799_10141895del	VHL	Pancreatic cysts;Renal cyst	NA;NA	NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/374036	374036	000414960	360844	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10175778	10190168	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10175778_10190168del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997738	997738	001293295	985438	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10175844	10187969	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10175844_10187969del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997739	997739	001293296	985439	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10176798	10184122	3p25.3	TGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGCGTAGCTGGGACTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCAGACCTCAGATGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGCTTACAGGCATGAGCCACCGTGCCCAGCCAAAAGAGTAGATCTTAAATGTTCTCACCACAAAAAAACTGAAGTAATAAATACATTAGCTTTATTTTTTAAATTTTTAATTATTTTACAAAATAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCCTGAACTCTGGGCTCAAGCAATCCTCCCACCTGGGTCTCCCAAAGTGCTGGGATTAACAGACGTGAGCCACTGCACTTGGCCAGCTTGATTATTTTTTAATGGCAAACAAGCTCATGAAAAGATGCTCAACATTGTTAGTCACTAGAGAAGTGTGTCCAGAATTGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCAGACCCTTGCGGTGAGTGTTACAGTTCTCAAAGGTGGCGTGTCCAGAGTTTGTTCCTTCTGATGTTCGGATGTGTTCAGAGTTTGTTCCTTCTGGTGGCTGCGTGGTCTTGCTGGCTCAGGAGTGAAGCTGCAGACCACCGCGAGTATTACAGCTTTTAAAGCACTGCATCTAGAGTTTTTGGTTCCTCCAAGTGGGTTCGTGGTCTTGCTGGCTTCAGCAGACCTTCACGGTGAGCGTTACAGCTCACAAAGGCAATGCGGACCCAAAGAGTAAGCAATAACAATATTTACCGCAACGACTAAAAGAACAAACCTCTCACGACATACAAATGGACCCAACCGGGTTGCCACTGCTAGCTCTGGCAGCCTGCTTTTATTCTCTTACCTGGCCCCACCCACATCCTGCTGATTGGTCCATTTTACAGAGAGCCCATTGGTCCATTTTACAGAGAGCTGATTGGTCCGTTTTGACAGGGTGCTGATTGGTGTGTTTACAATCCCTGAGCTAAACACAAAGGTTCTCCAAGTCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCCAATTGGTGTATTTACAATCCCTTACCTAGACATAAAGGTTCTCCAAGTCCCCACCAGACTTAGGAGCCCAGCTGGCTTCACCCAGTGGATCCTGCACCGGGGCGCAGGTGGAGCTGCCTGCCAGTCCCGCACCCTGCACCTGCACTCCTCAGCCCTCAGGTGGTTGATGGGACTGGGCGCAGTGGAGCAGGGGGTGGCGCTCGTCGGGGAGGCTCGGGTGGCACAGGAGCCCACGGAAGAGGGGGGAGGCTCAGGCATGGCGGGCTGCAGCTCCTGGGCCCTGCCCGGCTGGGAGGCAGCTAAGGCCCTGCGAGAAATTGAGCACAGCAGCTGCTGGCCCAGGTGATAAGCCCCTCACTGCCCTGGGCTTGCAGGCCGGCTGAGCCCACGCCCACCCGGAACTTGTGCTAGCCCACAAGCGCCACGGCAGCCCCGGTTCCCGCCCGCACCTCTCCCTCCACACCTCCCTGCAAGCTGAGGGAGCCGGCTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCCGCATGCTGGACAGCTCCTCAAGCGTGGCCAGAGTGGTGGCCAAGGCCAAGGAGGTGCCGAGAGTGAGCGAGGGCCGCGAGGGCTGCCAGCACATTGTCACCTCTCAGAAGTACAAATTAAACGTCAATAAGATACCACTATACATCAATTAGAATGGCTAAAATTTTTTTATTTTTAAAGAACAAAACCCCAGGCCAGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAGATACGAAAAGTTAGCTGGGCGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACATGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCGGCAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAACAAAACCTCAAATCTGATAATACCAACTGTAGACAAGAATGTGGAGCAACTGGAACAGTCATACATTGCTGGTGAGAATGCAAAATGATACAACTGCTCTGGGGAAACAGGTTAGCAATTTCTCATGAAGTTAAACATGTACTTTGTGTTTGACCTAGCAATCTCCTAGGTGATTCTCACCCAAGAGAAACAAAACTTATGTTTGCAAGAAACCTGTACACTAATGTATATAGCAACTTTATAATTGCTAAAAACTGGAAACAAACCAATATCTTGCAGTTGGTAAGTAGATAGTATGGAATACCCTTGGCAATAAAAATGAGTAAGTTATTATATACTACAACTTGGATGAATCTCAAATGCATTATGCTAAGTGAAAAAAAGCCAAACTCATAAGGCTACATATGATACGATTTTGTTGTGTGACATTCTGGAAAGGCAAAACTATAGGGACACAAGACAGACAGACCAGTGCTTGCCAGGGATTAACAGTGGAAGCAGGGTTTGACCATGAAGGAGTTTTGGGGGTGACAAGATACTCTGGTTTTTTTTTTTTTCTTGAGACAGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAAAAACTGGAAACGAAGTAAATATGGCAACATGCTAATTACATGTGACATTATCAGTATTTGCTTTATTATTGTACTTGTATATTTTAATTGGTCGACATACAAACAAGGCAAAATATATCCCCCTTAGAGAAAATTTGGAAAAGACAGAAAAGGAGATAGAACAAGTCACCAGTTGTCTTTATTTATTTATTGAAACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTCCGGTGGCGCCATCTCCGCTTACTGCAAGCTCTGCCTCTCGGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTGTTTTTGTATTTTTAGTGGAGACAGGGTTTCACTGGGTTAGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACTTGCTTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACCGGTTGTCTTTAGACATTGTATTTTTTATTCTTTTCTACATGTCTTTTTGCCTAATGAAAAGTGTACTGTAAGAAAAATTTTGCCTGTGTATTCTAAACTTGTTTCCTTTGCAACTTTTTCTTTTCTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTACCCAGGCTAAAGTGCAGTGTCGCGATCACAGTTCACTGCAGCCTTGACCTTCCTGAGCTCAGGTGATCCTCCAGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCACCCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACAGGATTTCATCATGTCGCCCAGCCTAGTGTCGAGCTCCTCAGCTCAAGTTATCCGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCACAAGCCACCGTGCTTGGCCACCCCTTCCTCTTAAATGATCTTTGAAACATTATTTGCAGTCTCAAAGCCTGCATTTATCTAAACAACTGGTTTCATTTTAGGGATGTAGGCATTTCTGTAATATTAAACTGTTATATTTCACCTCGCTAGCATGGGAGTACAACTGAGGGGATGTTTGCATGAATCTTGTGAATTATGATGGCTCTAAGCCATTGTAATTTGATTAACAGAAGTCCTACTTTGGGGTTTATCTTATTTTTATTATTTATTTATTTTTTGAGTGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTGGGCTCACTGCAACCTCTGCCTCTGGGGTTTAAGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCC	T	Pathogenic	NC_000003.12:g.10135142_10142466del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997741	997741	001293298	985449	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10176799	10185225	3p25.3	GGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGCGTAGCTGGGACTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCAGACCTCAGATGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGCTTACAGGCATGAGCCACCGTGCCCAGCCAAAAGAGTAGATCTTAAATGTTCTCACCACAAAAAAACTGAAGTAATAAATACATTAGCTTTATTTTTTAAATTTTTAATTATTTTACAAAATAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCCTGAACTCTGGGCTCAAGCAATCCTCCCACCTGGGTCTCCCAAAGTGCTGGGATTAACAGACGTGAGCCACTGCACTTGGCCAGCTTGATTATTTTTTAATGGCAAACAAGCTCATGAAAAGATGCTCAACATTGTTAGTCACTAGAGAAGTGTGTCCAGAATTGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCAGACCCTTGCGGTGAGTGTTACAGTTCTCAAAGGTGGCGTGTCCAGAGTTTGTTCCTTCTGATGTTCGGATGTGTTCAGAGTTTGTTCCTTCTGGTGGCTGCGTGGTCTTGCTGGCTCAGGAGTGAAGCTGCAGACCACCGCGAGTATTACAGCTTTTAAAGCACTGCATCTAGAGTTTTTGGTTCCTCCAAGTGGGTTCGTGGTCTTGCTGGCTTCAGCAGACCTTCACGGTGAGCGTTACAGCTCACAAAGGCAATGCGGACCCAAAGAGTAAGCAATAACAATATTTACCGCAACGACTAAAAGAACAAACCTCTCACGACATACAAATGGACCCAACCGGGTTGCCACTGCTAGCTCTGGCAGCCTGCTTTTATTCTCTTACCTGGCCCCACCCACATCCTGCTGATTGGTCCATTTTACAGAGAGCCCATTGGTCCATTTTACAGAGAGCTGATTGGTCCGTTTTGACAGGGTGCTGATTGGTGTGTTTACAATCCCTGAGCTAAACACAAAGGTTCTCCAAGTCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCCAATTGGTGTATTTACAATCCCTTACCTAGACATAAAGGTTCTCCAAGTCCCCACCAGACTTAGGAGCCCAGCTGGCTTCACCCAGTGGATCCTGCACCGGGGCGCAGGTGGAGCTGCCTGCCAGTCCCGCACCCTGCACCTGCACTCCTCAGCCCTCAGGTGGTTGATGGGACTGGGCGCAGTGGAGCAGGGGGTGGCGCTCGTCGGGGAGGCTCGGGTGGCACAGGAGCCCACGGAAGAGGGGGGAGGCTCAGGCATGGCGGGCTGCAGCTCCTGGGCCCTGCCCGGCTGGGAGGCAGCTAAGGCCCTGCGAGAAATTGAGCACAGCAGCTGCTGGCCCAGGTGATAAGCCCCTCACTGCCCTGGGCTTGCAGGCCGGCTGAGCCCACGCCCACCCGGAACTTGTGCTAGCCCACAAGCGCCACGGCAGCCCCGGTTCCCGCCCGCACCTCTCCCTCCACACCTCCCTGCAAGCTGAGGGAGCCGGCTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCCGCATGCTGGACAGCTCCTCAAGCGTGGCCAGAGTGGTGGCCAAGGCCAAGGAGGTGCCGAGAGTGAGCGAGGGCCGCGAGGGCTGCCAGCACATTGTCACCTCTCAGAAGTACAAATTAAACGTCAATAAGATACCACTATACATCAATTAGAATGGCTAAAATTTTTTTATTTTTAAAGAACAAAACCCCAGGCCAGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAGATACGAAAAGTTAGCTGGGCGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACATGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCGGCAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAACAAAACCTCAAATCTGATAATACCAACTGTAGACAAGAATGTGGAGCAACTGGAACAGTCATACATTGCTGGTGAGAATGCAAAATGATACAACTGCTCTGGGGAAACAGGTTAGCAATTTCTCATGAAGTTAAACATGTACTTTGTGTTTGACCTAGCAATCTCCTAGGTGATTCTCACCCAAGAGAAACAAAACTTATGTTTGCAAGAAACCTGTACACTAATGTATATAGCAACTTTATAATTGCTAAAAACTGGAAACAAACCAATATCTTGCAGTTGGTAAGTAGATAGTATGGAATACCCTTGGCAATAAAAATGAGTAAGTTATTATATACTACAACTTGGATGAATCTCAAATGCATTATGCTAAGTGAAAAAAAGCCAAACTCATAAGGCTACATATGATACGATTTTGTTGTGTGACATTCTGGAAAGGCAAAACTATAGGGACACAAGACAGACAGACCAGTGCTTGCCAGGGATTAACAGTGGAAGCAGGGTTTGACCATGAAGGAGTTTTGGGGGTGACAAGATACTCTGGTTTTTTTTTTTTTCTTGAGACAGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAAAAACTGGAAACGAAGTAAATATGGCAACATGCTAATTACATGTGACATTATCAGTATTTGCTTTATTATTGTACTTGTATATTTTAATTGGTCGACATACAAACAAGGCAAAATATATCCCCCTTAGAGAAAATTTGGAAAAGACAGAAAAGGAGATAGAACAAGTCACCAGTTGTCTTTATTTATTTATTGAAACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTCCGGTGGCGCCATCTCCGCTTACTGCAAGCTCTGCCTCTCGGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTGTTTTTGTATTTTTAGTGGAGACAGGGTTTCACTGGGTTAGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACTTGCTTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACCGGTTGTCTTTAGACATTGTATTTTTTATTCTTTTCTACATGTCTTTTTGCCTAATGAAAAGTGTACTGTAAGAAAAATTTTGCCTGTGTATTCTAAACTTGTTTCCTTTGCAACTTTTTCTTTTCTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTACCCAGGCTAAAGTGCAGTGTCGCGATCACAGTTCACTGCAGCCTTGACCTTCCTGAGCTCAGGTGATCCTCCAGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCACCCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACAGGATTTCATCATGTCGCCCAGCCTAGTGTCGAGCTCCTCAGCTCAAGTTATCCGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCACAAGCCACCGTGCTTGGCCACCCCTTCCTCTTAAATGATCTTTGAAACATTATTTGCAGTCTCAAAGCCTGCATTTATCTAAACAACTGGTTTCATTTTAGGGATGTAGGCATTTCTGTAATATTAAACTGTTATATTTCACCTCGCTAGCATGGGAGTACAACTGAGGGGATGTTTGCATGAATCTTGTGAATTATGATGGCTCTAAGCCATTGTAATTTGATTAACAGAAGTCCTACTTTGGGGTTTATCTTATTTTTATTATTTATTTATTTTTTGAGTGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTGGGCTCACTGCAACCTCTGCCTCTGGGGTTTAAGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCT	G	Pathogenic	NC_000003.12:g.10135142_10143568del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997740	997740	001293297	985450	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10178706	10187161	3p25.3	AGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAGATACGAAAAGTTAGCTGGGCGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACATGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCGGCAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAACAAAACCTCAAATCTGATAATACCAACTGTAGACAAGAATGTGGAGCAACTGGAACAGTCATACATTGCTGGTGAGAATGCAAAATGATACAACTGCTCTGGGGAAACAGGTTAGCAATTTCTCATGAAGTTAAACATGTACTTTGTGTTTGACCTAGCAATCTCCTAGGTGATTCTCACCCAAGAGAAACAAAACTTATGTTTGCAAGAAACCTGTACACTAATGTATATAGCAACTTTATAATTGCTAAAAACTGGAAACAAACCAATATCTTGCAGTTGGTAAGTAGATAGTATGGAATACCCTTGGCAATAAAAATGAGTAAGTTATTATATACTACAACTTGGATGAATCTCAAATGCATTATGCTAAGTGAAAAAAAGCCAAACTCATAAGGCTACATATGATACGATTTTGTTGTGTGACATTCTGGAAAGGCAAAACTATAGGGACACAAGACAGACAGACCAGTGCTTGCCAGGGATTAACAGTGGAAGCAGGGTTTGACCATGAAGGAGTTTTGGGGGTGACAAGATACTCTGGTTTTTTTTTTTTTCTTGAGACAGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAAAAACTGGAAACGAAGTAAATATGGCAACATGCTAATTACATGTGACATTATCAGTATTTGCTTTATTATTGTACTTGTATATTTTAATTGGTCGACATACAAACAAGGCAAAATATATCCCCCTTAGAGAAAATTTGGAAAAGACAGAAAAGGAGATAGAACAAGTCACCAGTTGTCTTTATTTATTTATTGAAACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTCCGGTGGCGCCATCTCCGCTTACTGCAAGCTCTGCCTCTCGGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTGTTTTTGTATTTTTAGTGGAGACAGGGTTTCACTGGGTTAGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACTTGCTTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACCGGTTGTCTTTAGACATTGTATTTTTTATTCTTTTCTACATGTCTTTTTGCCTAATGAAAAGTGTACTGTAAGAAAAATTTTGCCTGTGTATTCTAAACTTGTTTCCTTTGCAACTTTTTCTTTTCTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTACCCAGGCTAAAGTGCAGTGTCGCGATCACAGTTCACTGCAGCCTTGACCTTCCTGAGCTCAGGTGATCCTCCAGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCACCCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACAGGATTTCATCATGTCGCCCAGCCTAGTGTCGAGCTCCTCAGCTCAAGTTATCCGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCACAAGCCACCGTGCTTGGCCACCCCTTCCTCTTAAATGATCTTTGAAACATTATTTGCAGTCTCAAAGCCTGCATTTATCTAAACAACTGGTTTCATTTTAGGGATGTAGGCATTTCTGTAATATTAAACTGTTATATTTCACCTCGCTAGCATGGGAGTACAACTGAGGGGATGTTTGCATGAATCTTGTGAATTATGATGGCTCTAAGCCATTGTAATTTGATTAACAGAAGTCCTACTTTGGGGTTTATCTTATTTTTATTATTTATTTATTTTTTGAGTGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTGGGCTCACTGCAACCTCTGCCTCTGGGGTTTAAGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG	A	Pathogenic	NC_000003.12:g.10137026_10145481del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997742	997742	001293299	985451	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10178786	10185041	3p25.3	ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAGATACGAAAAGTTAGCTGGGCGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACATGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCGGCAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAACAAAACCTCAAATCTGATAATACCAACTGTAGACAAGAATGTGGAGCAACTGGAACAGTCATACATTGCTGGTGAGAATGCAAAATGATACAACTGCTCTGGGGAAACAGGTTAGCAATTTCTCATGAAGTTAAACATGTACTTTGTGTTTGACCTAGCAATCTCCTAGGTGATTCTCACCCAAGAGAAACAAAACTTATGTTTGCAAGAAACCTGTACACTAATGTATATAGCAACTTTATAATTGCTAAAAACTGGAAACAAACCAATATCTTGCAGTTGGTAAGTAGATAGTATGGAATACCCTTGGCAATAAAAATGAGTAAGTTATTATATACTACAACTTGGATGAATCTCAAATGCATTATGCTAAGTGAAAAAAAGCCAAACTCATAAGGCTACATATGATACGATTTTGTTGTGTGACATTCTGGAAAGGCAAAACTATAGGGACACAAGACAGACAGACCAGTGCTTGCCAGGGATTAACAGTGGAAGCAGGGTTTGACCATGAAGGAGTTTTGGGGGTGACAAGATACTCTGGTTTTTTTTTTTTTCTTGAGACAGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAAAAACTGGAAACGAAGTAAATATGGCAACATGCTAATTACATGTGACATTATCAGTATTTGCTTTATTATTGTACTTGTATATTTTAATTGGTCGACATACAAACAAGGCAAAATATATCCCCCTTAGAGAAAATTTGGAAAAGACAGAAAAGGAGATAGAACAAGTCACCAGTTGTCTTTATTTATTTATTGAAACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTCCGGTGGCGCCATCTCCGCTTACTGCAAGCTCTGCCTCTCGGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTGTTTTTGTATTTTTAGTGGAGACAGGGTTTCACTGGGTTAGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACTTGCTTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACCGGTTGTCTTTAGACATTGTATTTTTTATTCTTTTCTACATGTCTTTTTGCCTAATGAAAAGTGTACTGTAAGAAAAATTTTGCCTGTGTATTCTAAACTTGTTTCCTTTGCAACTTTTTCTTTTCTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTACCCAGGCTAAAGTGCAGTGTCGCGATCACAGTTCACTGCAGCCTTGACCTTCCTGAGCTCAGGTGATCCTCCAGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCACCCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACAGGATTTCATCATGTCGCCCAGCCTAGTGTCGAGCTCCTCAGCTCAAGTTATCCGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCACAAGCCACCGTGCTTGGCCACCCCTTCCTCTTAAATGATCTTTGAAACATTATTTGCAGTCTCAAAGCCTGCATTTATCTAAACAACTGGTTTCATTTTAGGGATGTAGGCATTTCTGTAATATTAAACTGTTATATTTCACCTCGCTAGCATGGGAGTACAACTGAGGGGATGTTTGCATGAATCTTGTGAATTATGATGGCTCTAAGCCATTGTAATTTGATTAACAGAAGTCCTACTTTGGGGTTTATCTTATTTTTATTATTTATTTATTTTTTGAGTGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTGGGCTCACTGCAACCTCTGCCTCTGGGGTTTAAGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTG	A	Pathogenic	NC_000003.12:g.10137102_10143357del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997743	997743	001293300	985452	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10179846	10190051	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10179846_10190051del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997744	997744	001293301	985440	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10180085	10190286	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10180085_10190286del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997745	997745	001293302	985441	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10180892	10190625	3p25.3	GGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTA	G	Pathogenic	NC_000003.12:g.10139220_10148953del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997746	997746	001293303	985453	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10181370	10184068	3p25.3	TGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTC	T	Pathogenic	NC_000003.12:g.10139708_10142406del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997747	997747	001293304	985454	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10181438	10184136	3p25.3	CCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATT	C	Pathogenic	NC_000003.12:g.10139761_10142459del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997748	997748	001293305	985455	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1696067154	10181832	10182443	3p25.3	TGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGC	T	Pathogenic	NC_000003.12:g.10140148_10140759del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997768	997768	001293325	985456	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10182212	10212738	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10182212_10212738del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997749	997749	001293306	985442	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10182314	10190080	3p25.3	CCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG	C	Pathogenic	NC_000003.12:g.10140648_10148414del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997750	997750	001293307	985457	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10182405	10184202	3p25.3	GTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTA	G	Pathogenic	NC_000003.12:g.10140738_10142535del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997754	997754	001293311	985458	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183204	10184291	3p25.3	CTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	C	Pathogenic	NC_000003.12:g.10141523_10142610del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997755	997755	001293312	985459	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183319	10183871	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10141635)_(10142187_?)del	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/417616	417616	000465963	393129	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs727503744	10183457	10183477	3p25.3	AGCGCGCACGCAGCTCCGCCCC	A	Likely pathogenic	NM_000551.3(VHL):c.-75_-55del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/166561	166561	000152657	173876	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183512	10188340	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10141828)_(10146656_?)del	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/830508	830508	001031134	819302	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183522	10183881	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10141838)_(10142197_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/656836	656836	000813342	651028	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183522	10191659	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10141838)_(10149975_?)del	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/640445	640445	000793474	651102	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183532	10183881	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10141848)_(10142197_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/833198	833198	001033654	819303	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183532	10184708	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10141848)_(10143024_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/830486	830486	001031114	819305	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183532	10188330	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10183532)_(10188330_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1073436	1073436	001386426	1057027	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183579	10185909	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.(?_10183579)_(10185909_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1452589	1452589	001999885	1364308	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183654	10183657	3p25.3	AAGAG	A	Likely pathogenic	NM_000551.4(VHL):c.123_126del (p.Glu41fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1692515	1692515	002258566	1684955	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183663	10183664	3p25.3	C	CCCAGTTCCTCCGGGCCGGACTCTTCCGGG	Likely pathogenic	NM_000551.4(VHL):c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC (p.Glu46fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1692517	1692517	002255926	1684957	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183692	10183692	3p25.3	T	G	Likely pathogenic	NM_000551.4(VHL):c.161T>G (p.Met54Arg)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2043162	2043162	002908478	2092024	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs886041345	10183692	10183693	3p25.3	T	TGGAGGCCG	Pathogenic	NM_000551.4(VHL):c.164_171dup (p.Arg60fs)	VHL	not provided|Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|193300|263400;193300	NA|892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/280053	280053	000267121|000767231|001859534	264141	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025615	10183692	10183693	3p25.3	T	TG	Pathogenic	NM_000551.4(VHL):c.163dup (p.Glu55fs)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223159	223159	000208829|001036535	224889	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025615	10183693	10183693	3p25.3	TG	T	Pathogenic	NM_000551.4(VHL):c.163del (p.Glu55fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/428800	428800	000492789	420437	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1064796408	10183707	10183720	3p25.3	CCGCGGCCCGTGCTG	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.179_192del (p.Arg60fs)	VHL	not provided|Von Hippel-Lindau syndrome;Chuvash polycythemia	NA|193300;263400	NA|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/423409	423409	000479186|000803035	406063	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882037	10183710	10183710	3p25.3	CG	C	Pathogenic	NM_000551.4(VHL):c.180del (p.Val62fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/182986	182986	000161096	180110	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183711	10183724	3p25.3	GGCCCGTGCTGCGCT	G	Pathogenic	NM_000551.4(VHL):c.180_193del (p.Pro61fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1780385	1780385	002407900	1835086	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183715	10183715	3p25.3	CG	C	Pathogenic	NM_000551.4(VHL):c.184del (p.Val62fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2085211	2085211	002996158	2140552	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183716	10183717	3p25.3	T	TGCTGC	Pathogenic	NM_000551.4(VHL):c.189_193dup (p.Ser65fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2128789	2128789	003057752	2178812	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183719	10183719	3p25.3	T	G	Likely pathogenic	NM_000551.4(VHL):c.188T>G (p.Leu63Arg)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2561023	2561023	003300745	2717182	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553619402	10183719	10183720	3p25.3	T	TG	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.189dup (p.Arg64fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496050	496050	000588397	486978	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025647	10183720	10183723	3p25.3	TGCGC	T	Pathogenic	NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223205	223205	000208833	224890	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1487408934	10183721	10183721	3p25.3	C	A	Likely pathogenic	NM_000551.4(VHL):c.190C>A (p.Arg64Ser)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/1023005	1023005	001322991	1004380	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183721	10183722	3p25.3	C	CG	Pathogenic	NM_000551.4(VHL):c.191dup (p.Ser65fs)	VHL	Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|263400;193300	140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1782641	1782641	002410674|003097354	1846006	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs104893826	10183722	10183722	3p25.3	G	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	VHL	Pheochromocytoma|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided	171300|NA|193300|263400;193300|NA	29072|140162|892|238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2226	2226	000002314|000132356|000208872|000475973|000679019	17265	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882031	10183723	10183723	3p25.3	GC	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.192del (p.Ser65fs)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome	NA|193300	140162|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/182972	182972	000161076|000586821	180111	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183724	10183724	3p25.3	T	A	Pathogenic	NM_000551.4(VHL):c.193T>A (p.Ser65Thr)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/1426858	1426858	001929631	1366531	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025616	10183724	10183724	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.193T>C (p.Ser65Pro)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/547829	547829	000660351	537735	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025616	10183724	10183724	3p25.3	T	G	Likely pathogenic	NM_000551.4(VHL):c.193T>G (p.Ser65Ala)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223160	223160	000208812	224891	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs5030826	10183725	10183725	3p25.3	C	A	Pathogenic	NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Chuvash polycythemia|not provided	193300|193300;263400|263400|NA	892|892;238557|238557|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223161	223161	000208831|001213116|002509303|003233497	224892	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030826	10183725	10183725	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	VHL	Von Hippel-Lindau syndrome|not provided|Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300|NA|193300;263400|NA	892|NA|892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/43597	43597	000036539|000497340|001219547|002415465	52766	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030826	10183725	10183725	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	VHL	Von Hippel-Lindau syndrome|Retinal capillary hemangioma;Spinal hemangioblastoma;Pancreatic cysts;Cerebellar hemangioblastoma|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA;NA;NA;NA|263400;193300	892|NA;NA;NA;NA|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/182975	182975	000199197|000626711|001389259	180112	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183733	10183734	3p25.3	T	TCG	Pathogenic	NM_000551.4(VHL):c.207_208dup (p.Glu70fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1785370	1785370	002422119	1840167	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025617	10183734	10183734	3p25.3	C	A	Pathogenic	NM_000551.4(VHL):c.203C>A (p.Ser68Ter)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223162	223162	000208815|001389820	224893	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183734	10183735	3p25.3	C	CG	Pathogenic	NM_000551.4(VHL):c.204dup (p.Arg69fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1785035	1785035	002420064	1843680	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553619415	10183736	10183737	3p25.3	C	CG	Pathogenic	NM_000551.4(VHL):c.206dup (p.Glu70fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/478820	478820	000536755	472246	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs5030802	10183739	10183739	3p25.3	G	A	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/43598	43598	000036540|000492137|001379599	52767	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030802	10183739	10183739	3p25.3	G	C	Likely pathogenic	NM_000551.4(VHL):c.208G>C (p.Glu70Gln)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/847948	847948	001051596	827284	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030802	10183739	10183739	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	VHL	Hereditary cancer-predisposing syndrome|not provided|Von Hippel-Lindau syndrome	NA|NA|193300	140162|NA|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/428806	428806	000492695|000679020|000767235	420438	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183741	10183742	3p25.3	G	GCC	Pathogenic	NM_000551.4(VHL):c.212_213dup (p.Ser72fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1786236	1786236	002417613	1846988	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183742	10183742	3p25.3	GC	G	Pathogenic	NM_000551.4(VHL):c.213del (p.Ser72fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2573291	2573291	003316980	2738239	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025618	10183745	10183745	3p25.3	T	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/223163	223163	000208787|000492124|001382227	224894	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025619	10183748	10183748	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	VHL	Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|263400;193300	892|NA|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223164	223164	000208804|000679022|001218191	224895	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882039	10183750	10183751	3p25.3	AGG	A	Pathogenic	NM_000551.4(VHL):c.219_220del (p.Gln73fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/182988	182988	000161098	180113	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025620	10183752	10183752	3p25.3	GT	G	Pathogenic	NM_000551.4(VHL):c.221del (p.Val74fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223165	223165	000208849	224896	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10183752	10183753	3p25.3	T	TCATC	Likely pathogenic	NM_000551.4(VHL):c.222_225dup (p.Phe76fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1723891	1723891	002306446	1781376	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs794729660	10183752	10183754	3p25.3	GTCA	G	Pathogenic	NM_000551.4(VHL):c.223_225del (p.Ile75del)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2214	2214	000002298	17253	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs759737367	10183753	10183753	3p25.3	C	A	Pathogenic	NM_000551.4(VHL):c.222C>A (p.Val74=)	VHL	Chuvash polycythemia	263400	238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/635350	635350	000984026	623184	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs5030648	10183755	10183757	3p25.3	ATCT	A	Pathogenic	NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|not provided|Hereditary cancer-predisposing syndrome|VHL-related condition	193300|193300;263400|NA|NA|NA	892|892;238557|NA|140162|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223166	223166	000208790|000469401|000679023|002444839|003389711	224897	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559425911	10183757	10183757	3p25.3	T	A	Likely pathogenic	NM_000551.4(VHL):c.226T>A (p.Phe76Ile)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/820994	820994	001015002	807486	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183757	10183757	3p25.3	T	C	Likely pathogenic	NM_000551.4(VHL):c.226T>C (p.Phe76Leu)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2566469	2566469	003306574	2734312	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1060503552	10183757	10183758	3p25.3	CTT	C	Pathogenic	NM_000551.4(VHL):c.226_227del (p.Phe76fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	263400;193300|NA	238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/411961	411961	000462489|002446840	393200	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183762	10183762	3p25.3	C	A	Pathogenic	NM_000551.4(VHL):c.231C>A (p.Cys77Ter)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2028206	2028206	002863461	2088681	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025621	10183763	10183763	3p25.3	A	C	Pathogenic	NM_000551.4(VHL):c.232A>C (p.Asn78His)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625225	625225	000767240	613558	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025621	10183763	10183763	3p25.3	A	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|not provided	193300|193300;263400|NA	892|892;238557|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/625226	625226	000767241|001869052|002260666	613559	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025621	10183763	10183763	3p25.3	A	T	Likely pathogenic	NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223167	223167	000208818|000568344	224898	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559425925	10183763	10183763	3p25.3	CA	C	Pathogenic	NM_000551.4(VHL):c.233del (p.Asn78fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625227	625227	000767242	613560	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030804	10183764	10183764	3p25.3	A	C	Pathogenic	NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	VHL	Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|263400;193300	892|NA|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223168	223168	000208838|000679024|000805326	224899	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030804	10183764	10183764	3p25.3	A	G	Pathogenic	NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	VHL	Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|NA|263400;193300	892|NA|140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/93326	93326	000079207|000254892|000492165|001034687	99233	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030804	10183764	10183764	3p25.3	A	T	Likely pathogenic	NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223169	223169	000208821|000803184	224900	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183767	10183767	3p25.3	G	C	Likely pathogenic	NM_000551.4(VHL):c.236G>C (p.Arg79Pro)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2566466	2566466	003306573	2734309	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs786202787	10183769	10183769	3p25.3	A	C	Pathogenic	NM_000551.4(VHL):c.238A>C (p.Ser80Arg)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496052	496052	000590356	487011	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs786202787	10183769	10183769	3p25.3	A	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Von Hippel-Lindau syndrome	NA|193300;263400|193300	140162|892;238557|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/186220	186220	000165774|001388793|002307423	182207	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559425951	10183769	10183791	3p25.3	CAGTCCGCGCGTCGTGCTGCCCGT	C	Pathogenic	NM_000551.4(VHL):c.239_261del (p.Ser80fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625228	625228	000767243	613561	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183770	10183770	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.239G>A (p.Ser80Asn)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1070179	1070179	001382228	1059559	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030805	10183770	10183770	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|193300;263400	892|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/625229	625229	000767244|001220559	613562	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183771	10183772	3p25.3	T	TCCGCGCGTCGTGCTGC	Pathogenic	NM_000551.4(VHL):c.244_259dup (p.Val87fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1071196	1071196	001383594	1059561	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183771	10183772	3p25.3	T	TCCGC	Pathogenic	NM_000551.4(VHL):c.241_244dup (p.Arg82fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1072069	1072069	001384689	1059560	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs193922608	10183773	10183773	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided|See cases	193300|NA|263400;193300|NA|NA	892|140162|238557;892|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/36899	36899	000030582|000129974|001034657|001547784|002251933	45560	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs794726890	10183776	10183776	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.245G>C (p.Arg82Pro)	VHL	Von Hippel-Lindau syndrome|not provided	193300|NA	892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/193118	193118	000173161|000724457	190283	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs794726890	10183776	10183776	3p25.3	G	T	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.245G>T (p.Arg82Leu)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300;263400|193300|NA	892;238557|892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/526675	526675	000631271|001553666|002448934	518732	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183781	10183781	3p25.3	CG	C	Pathogenic	NM_000551.4(VHL):c.250del (p.Val84fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1792371	1792371	002432923	1841959	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030827	10183781	10183781	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.250G>C (p.Val84Leu)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	NA|193300|193300;263400	140162|892|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/229860	229860	000216720|000588802|001382229	232861	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030827	10183781	10183781	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.250G>T (p.Val84Leu)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|263400;193300|NA	892|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2236	2236	000002324|001851579|002433440	17275	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183782	10183782	3p25.3	T	A	Likely pathogenic	NM_000551.4(VHL):c.251T>A (p.Val84Glu)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1792522	1792522	002433040	1842110	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs864622545	10183786	10183787	3p25.3	G	GC	Pathogenic	NM_000551.4(VHL):c.258dup (p.Val87fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625230	625230	000767247	613563	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs398123481	10183787	10183787	3p25.3	C	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.256C>G (p.Pro86Ala)	VHL	Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|263400;193300	892|NA|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/93327	93327	000079208|000723702|001227827	99234	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs398123481	10183787	10183787	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	VHL	Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|NA|193300;263400	892|NA|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/178692	178692	000155449|000413630|000492763|001059327	173736	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs864622545	10183787	10183787	3p25.3	GC	G	Pathogenic	NM_000551.4(VHL):c.258del (p.Val87fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome	263400;193300|193300	238557;892|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/220487	220487	000204033|000767246	221347	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882034	10183788	10183788	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|not provided	193300|263400;193300|NA|NA	892|238557;892|140162|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223170	223170	000208868|000631258|002426981|003237772	224901	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882034	10183788	10183788	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/182977	182977	000208836|000492524|001382230	180115	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183790	10183791	3p25.3	G	GTA	Pathogenic	NM_000551.4(VHL):c.261_262dup (p.Trp88fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1793789	1793789	002437174	1845914	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553619431	10183793	10183793	3p25.3	T	A	Pathogenic	NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome	263400;193300|193300|NA|NA	238557;892|892|NA|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/456577	456577	000558602|000587190|000679026|002431533	451870	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1553619431	10183793	10183793	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496053	496053	000589476|000631292	487013	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1131690960	10183793	10183794	3p25.3	T	TGGC	Likely pathogenic	NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/428805	428805	000492430	420440	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs119103277	10183794	10183794	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	VHL	not provided|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	NA|193300|NA|193300;263400	NA|892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/182978	182978	000161086|000208798|000492395|001382231	180116	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs119103277	10183794	10183794	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.263G>C (p.Trp88Ser)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2220	2220	000002306	17259	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1696134947	10183794	10183795	3p25.3	G	GGCTC	Pathogenic	NM_000551.4(VHL):c.264_267dup (p.Asn90fs)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/949409	949409	001220866	922981	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025622	10183795	10183795	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.264G>A (p.Trp88Ter)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	263400;193300|NA	238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/936684	936684	001205532|003163557	931674	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025622	10183795	10183795	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/580847	580847	000704506	558732	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025622	10183795	10183795	3p25.3	G	T	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/223171	223171	000208827|000492552|000537014	224902	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030807	10183797	10183797	3p25.3	T	A	Likely pathogenic	NM_000551.4(VHL):c.266T>A (p.Leu89His)	VHL	Papillary renal cell carcinoma type 1	605074	47044	http://www.ncbi.nlm.nih.gov/clinvar/variation/376047	376047	000417911	362926	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs5030807	10183797	10183797	3p25.3	T	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	NA|193300|193300;263400	140162|892|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/182979	182979	000161087|000208869|000817709	180117	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025623	10183799	10183799	3p25.3	CA	C	Pathogenic	NM_000551.4(VHL):c.269del (p.Asn90fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223173	223173	000208842	224904	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs143985153	10183800	10183800	3p25.3	A	T	Likely pathogenic	NM_000551.4(VHL):c.269A>T (p.Asn90Ile)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223172	223172	000208809|002426982	224903	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559426047	10183804	10183804	3p25.3	TC	T	Likely pathogenic	NM_000551.4(VHL):c.273del (p.Phe91fs)	VHL	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/560740	560740	000679027	551815	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1131690964	10183808	10183808	3p25.3	CG	C	Pathogenic	NM_000551.4(VHL):c.278del (p.Gly93fs)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome	NA|193300	140162|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/428811	428811	000492462|000767250	420441	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030808	10183808	10183808	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	VHL	Pheochromocytoma|Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	171300|193300|263400;193300|NA	29072|892|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2237	2237	000002325|000208813|000698471|002433441	17276	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030808	10183808	10183808	3p25.3	G	C	Likely pathogenic	NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300|193300;263400|NA	892|892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223174	223174	000208861|001035237|002433917	224905	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030808	10183808	10183808	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.277G>T (p.Gly93Cys)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223175	223175	000208845	224906	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553619440	10183809	10183809	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.278G>A (p.Gly93Asp)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496054	496054	000586256|001853983	486941	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559426072	10183809	10183810	3p25.3	GC	TT	Likely pathogenic	NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300;263400|NA	892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/583075	583075	000707314|001016587	558734	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030829	10183811	10183811	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.280G>T (p.Glu94Ter)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	NA|193300|193300;263400	140162|892|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/584477	584477	000708631|000767251|001222557	575529	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183815	10183815	3p25.3	C	G	Likely pathogenic	NM_000551.4(VHL):c.284C>G (p.Pro95Arg)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1326284	1326284	001786528	1316702	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1131690959	10183817	10183817	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.286C>T (p.Gln96Ter)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/428804	428804	000492143	420442	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575922271	10183820	10183825	3p25.3	GCCCTAC	G	Likely pathogenic	NM_000551.4(VHL):c.291_296del (p.Tyr98_Pro99del)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/821976	821976	001016937	807490	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559426095	10183821	10183824	3p25.3	CCCTA	C	Pathogenic	NM_000551.4(VHL):c.292_295del (p.Tyr98fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625234	625234	000767253	613567	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575922296	10183822	10183833	3p25.3	CCTACCCAACGCT	C	Pathogenic	NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/656391	656391	000812797	630718	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183823	10183823	3p25.3	T	A	Pathogenic	NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2627292	2627292	003388486	2794811	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030809	10183823	10183823	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.292T>C (p.Tyr98His)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided	193300|NA|263400;193300|NA	892|140162|238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2223	2223	000002309|000492094|000684783|000679029	17262	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025624	10183823	10183824	3p25.3	T	TA	Pathogenic	NM_000551.4(VHL):c.293dup (p.Tyr98Ter)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223177	223177	000208788	224908	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs864321643	10183824	10183824	3p25.3	A	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	VHL	Pheochromocytoma|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	171300|193300|193300;263400|NA	29072|892|892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/219160	219160	000203508|000208847|001064921|002433899	217068	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs864321643	10183824	10183824	3p25.3	A	G	Pathogenic	NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided	193300|263400;193300|NA	892|238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223176	223176	000208825|001218807|001357107	224907	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025625	10183824	10183825	3p25.3	A	AC	Pathogenic	NM_000551.4(VHL):c.296dup (p.Thr100fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223178	223178	000208817	224909	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1559426115	10183825	10183825	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625235	625235	000767254	613568	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183828	10183828	3p25.3	CA	C	Pathogenic	NM_000551.4(VHL):c.298del (p.Thr100fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1076108	1076108	001389890	1059562	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025626	10183830	10183831	3p25.3	C	CG	Pathogenic	NM_000551.4(VHL):c.300dup (p.Leu101fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223179	223179	000208859	224910	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10183833	10183833	3p25.3	T	A	Likely pathogenic	NM_000551.4(VHL):c.302T>A (p.Leu101Gln)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1799025	1799025	002435996	1856294	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553619456	10183833	10183833	3p25.3	T	C	Likely pathogenic	NM_000551.4(VHL):c.302T>C (p.Leu101Pro)	VHL	Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|263400;193300	140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/480963	480963	000574983|001858152	473345	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183833	10183833	3p25.3	T	G	Likely pathogenic	NM_000551.4(VHL):c.302T>G (p.Leu101Arg)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1799028	1799028	002435999	1856297	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559426145	10183834	10183835	3p25.3	G	GCC	Pathogenic	NM_000551.4(VHL):c.304_305dup (p.Pro103fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625236	625236	000767255	613569	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025628	10183839	10183840	3p25.3	C	CT	Pathogenic	NM_000551.4(VHL):c.309dup (p.Gly104fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223181	223181	000208819	224912	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs869025627	10183840	10183840	3p25.3	CT	C	Pathogenic	NM_000551.4(VHL):c.309del (p.Gly104fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223180	223180	000208801	224911	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs869025629	10183841	10183890	3p25.3	TGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAG	T	Likely pathogenic	NM_000551.4(VHL):c.311_340+20del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223182	223182	000208853	224914	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553619461	10183844	10183844	3p25.3	A	C	Pathogenic	NM_000551.4(VHL):c.313A>C (p.Thr105Pro)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496055	496055	000589007	486951	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10183844	10183845	3p25.3	A	AC	Pathogenic	NM_000551.4(VHL):c.314dup (p.Arg107fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1448469	1448469	002002254	1423168	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs397516440	10183850	10183850	3p25.3	C	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia;Pheochromocytoma;Nonpapillary renal cell carcinoma|Hereditary cancer-predisposing syndrome	193300|193300;263400;171300;144700|NA	892|892;238557;29072;422526|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/43599	43599	000036542|000763091|002321506	52768	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs193922609	10183851	10183851	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.320G>A (p.Arg107His)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/223184	223184	000208864|000492448|001379601	224915	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs193922609	10183851	10183851	3p25.3	G	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.320G>C (p.Arg107Pro)	VHL	Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|NA|193300;263400	892|NA|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/36900	36900	000030583|000486047|000492682|000816283	45561	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183859	10183860	3p25.3	C	CA	Pathogenic	NM_000551.4(VHL):c.329dup (p.His110fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1999272	1999272	002797091	2061065	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559426199	10183860	10183860	3p25.3	CA	C	Pathogenic	NM_000551.4(VHL):c.329del (p.His110fs)	VHL	not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|263400;193300	NA|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/560741	560741	000679031|002531399	551816	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10183861	10183862	3p25.3	CA	TT	Pathogenic	NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/2203305	2203305	002651638	1925534	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559426203	10183862	10183862	3p25.3	A	G	Pathogenic	NM_000551.4(VHL):c.331A>G (p.Ser111Gly)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|193300;263400	892|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/633016	633016	000780788|001039507	621143	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559426203	10183862	10183862	3p25.3	A	T	Pathogenic	NM_000551.4(VHL):c.331A>T (p.Ser111Cys)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/565557	565557	000685144	561079	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025631	10183863	10183863	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.332G>A (p.Ser111Asn)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/223186	223186	000208834|000492721|002517414	224916	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs765978945	10183864	10183864	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.333C>G (p.Ser111Arg)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/223187	223187	000208866|000492675|001204150	224918	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs104893824	10183865	10183865	3p25.3	T	A	Pathogenic	NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2228	2228	000002316	17267	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs104893824	10183865	10183865	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.334T>C (p.Tyr112His)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|VHL-related condition	193300|263400;193300|NA|NA	892|238557;892|140162|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2222	2222	000002308|000698407|002321468|003407257	17261	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025632	10183866	10183876	3p25.3	TACCGAGGTACG	T	Likely pathogenic	NM_000551.4(VHL):c.335_340+5del	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223188	223188	000208806|003165512	224920	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs751232153	10183867	10183867	3p25.3	C	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|263400;193300|NA	892|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/633015	633015	000780787|001068352|003307415	621144	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030810	10183868	10183868	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.337C>T (p.Arg113Ter)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300|193300;263400|NA	892|892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/220414	220414	000204250|000456132|003165497	221350	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1575922562	10183868	10183874	3p25.3	CCGAGGTA	C	Pathogenic	NM_000551.4(VHL):c.339_340+5del	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/639348	639348	000792121	651054	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025636	10183871	10183871	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.340G>A (p.Gly114Ser)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300;263400|NA	892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/583094	583094	000707336|003353002	559259	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025636	10183871	10183871	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.340G>C (p.Gly114Arg)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223193	223193	000208843	224921	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025634	10183871	10183875	3p25.3	AGGTAC	A	Pathogenic	NM_000551.4(VHL):c.340+2_340+6del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223191	223191	000208840	224923	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs730882032	10183872	10183872	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.340+1G>A	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided|Inborn genetic diseases	193300|263400;193300|NA|NA	892|238557;892|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223190	223190	000208808|001044454|001701877|002517415	224922	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882032	10183872	10183872	3p25.3	G	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.340+1G>C	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|not provided	193300|193300;263400|NA	892|892;238557|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/182973	182973	000589885|001850279|003328124	180118	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10184047	10190015	3p25.3	CTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTT	C	Pathogenic	NM_000551.4(VHL):c.340+221_464-1411del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997757	997757	001293314	985460	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10184086	10218542	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10184086_10218542del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997756	997756	001293313	985443	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10184144	10188809	3p25.3	CCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGT	C	Pathogenic	NM_000551.4(VHL):c.340+283_463+499del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997758	997758	001293315	985461	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10184160	10190262	3p25.3	AGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT	A	Pathogenic	NM_000551.4(VHL):c.340+307_464-1191del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997759	997759	001293316	985462	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10184219	10190545	3p25.3	CGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACG	C	Pathogenic	NM_000551.4(VHL):c.340+365_464-909del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997721	997721	001293278	985463	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10184256	10190225	3p25.3	GCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC	G	Pathogenic	NM_000551.4(VHL):c.340+428_464-1203del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997722	997722	001293279	985464	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10184309	10190278	3p25.3	ATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG	A	Pathogenic	NM_000551.4(VHL):c.340+444_464-1187del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997723	997723	001293280	985465	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10184863	10193980	3p25.3	TAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGG	T	Pathogenic	NM_000551.4(VHL):c.340+994_*2333del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997724	997724	001293281	985466	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10184883	10188763	3p25.3	GCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCT	G	Pathogenic	NM_000551.4(VHL):c.340+1019_463+450del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997725	997725	001293282	985467	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10185381	10190247	3p25.3	TTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC	T	Pathogenic	NM_000551.4(VHL):c.340+1543_464-1191del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997726	997726	001293283	985468	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10185451	10189994	3p25.3	TAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGA	T	Pathogenic	NM_000551.4(VHL):c.340+1580_464-1477del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997727	997727	001293284	985469	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10186337	10190139	3p25.3	TAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC	T	Pathogenic	NM_000551.4(VHL):c.341-1857_464-1328del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997728	997728	001293285	985470	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10186615	10189994	3p25.3	TAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGA	T	Pathogenic	NM_000551.4(VHL):c.341-1583_464-1477del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997729	997729	001293286	985471	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10186788	10195022	3p25.3	AGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCAGCCAGCTTTATTATTTTTTTTAAGCTGTCTTTGTGTCAAAATGATAGTTCATGCTCCTCTTGTTAAAACCTGCAGGCCGAGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGACCAAGGCGGATGGATCACCTGAGGTCAGGAGCTGAAGACCAGCCTGGCTAACATGGTGAAACCTCATCTCCACTTAAAATACAAAAATTGCCGGCCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGGTGAAACCCCGTCTCTATTAAAAAATAGAAAAAATTAGGCGGGCGTGGTGGTGAGCGCCTGTAGTCCCAGCTACTCGAGAGCCTGAGGCAGGAGAATGGCATGAACCTGGAAGGCGGAGCTTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAACCTGGGCGACAGAGTGAGACACCGTCTCAAAAAAAAAAACAAAAAACAAAAATTATCCAGGTGTGGCGGTGGGCGCCTGTGAGGCAGGC	A	Pathogenic	NM_000551.4(VHL):c.341-1406_*3377del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997730	997730	001293287	985472	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10186803	10195037	3p25.3	TGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCAGCCAGCTTTATTATTTTTTTTAAGCTGTCTTTGTGTCAAAATGATAGTTCATGCTCCTCTTGTTAAAACCTGCAGGCCGAGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGACCAAGGCGGATGGATCACCTGAGGTCAGGAGCTGAAGACCAGCCTGGCTAACATGGTGAAACCTCATCTCCACTTAAAATACAAAAATTGCCGGCCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGGTGAAACCCCGTCTCTATTAAAAAATAGAAAAAATTAGGCGGGCGTGGTGGTGAGCGCCTGTAGTCCCAGCTACTCGAGAGCCTGAGGCAGGAGAATGGCATGAACCTGGAAGGCGGAGCTTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAACCTGGGCGACAGAGTGAGACACCGTCTCAAAAAAAAAAACAAAAAACAAAAATTATCCAGGTGTGGCGGTGGGCGCCTGTGAGGCAGGCGAATCTCTTGAACCC	T	Pathogenic	NM_000551.4(VHL):c.341-1382_*3401del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997731	997731	001293288	985473	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10187244	10190450	3p25.3	AGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCT	A	Pathogenic	NM_000551.4(VHL):c.341-951_464-1018del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997732	997732	001293289	985474	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10187264	10194835	3p25.3	ACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCAGCCAGCTTTATTATTTTTTTTAAGCTGTCTTTGTGTCAAAATGATAGTTCATGCTCCTCTTGTTAAAACCTGCAGGCCGAGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGACCAAGGCGGATGGATCACCTGAGGTCAGGAGCTGAAGACCAGCCTGGCTAACATGGTGAAACCTCATCTCCACTTAAAATACAAAAATTGCCGGCCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGGTGAAACCCCGTCTCTATTAAAAAATAGAAAAAATTAGGCGGGCGTGGTGGTGAGCG	A	Pathogenic	NM_000551.4(VHL):c.341-929_*3191del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997733	997733	001293290	985475	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10187905	10190843	3p25.3	CTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGT	C	Pathogenic	NM_000551.4(VHL):c.341-279_464-614del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997734	997734	001293291	985476	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188005	10207561	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10188005_10207561del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997751	997751	001293308	985444	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188142	10194457	3p25.3	GGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGA	G	Pathogenic	NM_000551.4(VHL):c.341-49_*2815del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997752	997752	001293309	985477	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188187	10188187	3p25.3	T	A	Pathogenic	NM_000551.4(VHL):c.341-11T>A	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1457988	1457988	001956145	1471555	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188188	10188330	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10146504)_(10146646_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/660147	660147	000817280	651030	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188188	10191659	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10146504)_(10149975_?)del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/659603	659603	000816631	651103	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025637	10188196	10188196	3p25.3	A	G	Pathogenic	NM_000551.4(VHL):c.341-2A>G	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223194	223194	000208784|001034627	224926	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10188196	10188196	3p25.3	A	T	Pathogenic	NM_000551.4(VHL):c.341-2A>T	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2034796	2034796	002877178	2090144	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025638	10188197	10188197	3p25.3	AG	A	Pathogenic	NM_198156.3(VHL):c.341-3273del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223195	223195	000208824	224927	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575927648	10188197	10188197	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.341-1G>A	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/823743	823743	001020234	815254	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188198	10188320	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10146514)_(10146636_?)del	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/417615	417615	000456791	393147	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188200	10188200	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.343C>T (p.His115Tyr)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2451969	2451969	003187665	2426609	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030812	10188201	10188201	3p25.3	A	C	Likely pathogenic	NM_000551.4(VHL):c.344A>C (p.His115Pro)	VHL	not provided|Hereditary cancer-predisposing syndrome	NA|NA	NA|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/560744	560744	000679034|002458188	551819	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030812	10188201	10188201	3p25.3	A	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.344A>G (p.His115Arg)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	263400;193300|NA	238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/664415	664415	000822511|003169035	630722	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559428051	10188201	10188202	3p25.3	A	AC	Pathogenic	NM_000551.4(VHL):c.346dup (p.Leu116fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625238	625238	000767260	613570	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs864622646	10188202	10188202	3p25.3	C	A	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.345C>A (p.His115Gln)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496057	496057	000588324|001044333	487024	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10188206	10188206	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.349T>C (p.Trp117Arg)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2087924	2087924	003017971	2154883	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1696261074	10188206	10188206	3p25.3	T	G	Pathogenic	NM_000551.4(VHL):c.349T>G (p.Trp117Gly)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/862346	862346	001069048	827291	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559428056	10188207	10188207	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.350G>A (p.Trp117Ter)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625239	625239	000767261	613571	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025640	10188207	10188207	3p25.3	TG	T	Pathogenic	NM_000551.4(VHL):c.351del (p.Trp117fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223197	223197	000208786	224928	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs727504215	10188208	10188208	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	VHL	Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome	193300|NA|NA	892|NA|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/167827	167827	000154124|000723964|001020510	178148	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025641	10188209	10188210	3p25.3	C	CA	Pathogenic	NM_000551.4(VHL):c.352_353insA (p.Leu118fs)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided	193300|263400;193300|NA	892|238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223198	223198	000208858|001221660|001589101	224929	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030830	10188210	10188210	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|not provided	NA|193300;263400|NA	140162|892;238557|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/428807	428807	000492175|000801496|001702663	420444	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030830	10188210	10188210	3p25.3	T	G	Pathogenic	NM_000551.4(VHL):c.353T>G (p.Leu118Arg)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome	NA|193300	140162|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/428802	428802	000492280|003233031	420445	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1553619948	10188212	10188212	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.355T>C (p.Phe119Leu)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300|193300;263400|NA	892|892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/496059	496059	000588483|000631289|002456285	486985	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1131691526	10188213	10188214	3p25.3	T	TGG	Likely pathogenic	NM_000551.4(VHL):c.356_357insGG (p.Phe119fs)	VHL	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/429679	429679	000494175	421409	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188214	10188214	3p25.3	C	A	Likely pathogenic	NM_000551.4(VHL):c.357C>A (p.Phe119Leu)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1732864	1732864	002455064	1795938	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559428077	10188214	10188214	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|263400;193300|NA	892|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/625240	625240	000767262|000821822|002458373	613572	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025642	10188215	10188215	3p25.3	A	G	Likely pathogenic	NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided	193300|263400;193300|NA	892|238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223199	223199	000208800|001379374|001701790	224930	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1131690956	10188215	10188215	3p25.3	CA	C	Pathogenic	NM_000551.4(VHL):c.358del (p.Arg120fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/428798	428798	000492390	420446	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188218	10188218	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.361G>A (p.Asp121Asn)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/2203306	2203306	002651639	1925535	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030832	10188219	10188219	3p25.3	A	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.362A>G (p.Asp121Gly)	VHL	Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|263400;193300	892|NA|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223200	223200	000208830|000679035|000801501	224931	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030832	10188219	10188219	3p25.3	A	T	Likely pathogenic	NM_000551.4(VHL):c.362A>T (p.Asp121Val)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/949664	949664	001221169	922982	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575927767	10188219	10188220	3p25.3	A	AT	Pathogenic	NM_000551.4(VHL):c.363dup (p.Ala122fs)	VHL	Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|263400;193300	140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/824019	824019	001020780|001216349	807491	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10188220	10188220	3p25.3	AT	A	Pathogenic	NM_000551.4(VHL):c.363del (p.Asp121fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1177419	1177419	001533187	1166698	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025644	10188227	10188228	3p25.3	GAC	G	Pathogenic	NM_000551.4(VHL):c.374_375del (p.His125fs)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223202	223202	000208802|000687965	224933	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs193922610	10188228	10188228	3p25.3	C	T	Likely pathogenic	NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	VHL	Von Hippel-Lindau syndrome|not provided	193300|NA	892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/36902	36902	000030585|000679036	45563	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025643	10188231	10188231	3p25.3	A	C	Pathogenic	NM_000551.4(VHL):c.374A>C (p.His125Pro)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223201	223201	000208860	224932	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs104893831	10188233	10188233	3p25.3	G	T	Likely pathogenic	NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	VHL	Chuvash polycythemia|Von Hippel-Lindau syndrome;Chuvash polycythemia	263400|193300;263400	238557|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/2230	2230	000002318|001236092	17269	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1696262643	10188233	10188239	3p25.3	GATGGGC	AA	Pathogenic	NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/972333	972333	001248335	953292	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553619952	10188234	10188234	3p25.3	GA	G	Pathogenic	NM_000551.4(VHL):c.377del (p.Asp126fs)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/456565	456565	000528640|001384431	451887	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559428107	10188236	10188236	3p25.3	TG	T	Pathogenic	NM_000551.4(VHL):c.381del (p.Leu128fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625241	625241	000767263	613573	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025645	10188238	10188239	3p25.3	GC	TT	Likely pathogenic	NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223203	223203	000208832	224934	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10188240	10188240	3p25.3	T	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.383T>C (p.Leu128Pro)	VHL	not provided|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	NA|193300|NA	NA|892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1208816	1208816	001577269|003316842|002359188	1196976	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1553619957	10188244	10188244	3p25.3	TG	T	Pathogenic	NM_000551.4(VHL):c.388del (p.Val130fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/480868	480868	000564829	473454	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs104893830	10188245	10188245	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.388G>C (p.Val130Leu)	VHL	Chuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	263400|193300|NA|263400;193300	238557|892|140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2229	2229	000002317|000030586|000492250|001071915	17268	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10188246	10188246	3p25.3	GT	G	Pathogenic	NM_000551.4(VHL):c.390del (p.Asn131fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1736103	1736103	002373128	1787262	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188248	10188248	3p25.3	A	T	Likely pathogenic	NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1522394	1522394	002034406	1369337	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553619963	10188249	10188249	3p25.3	A	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	VHL	Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|263400;193300	892|NA|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496062	496062	000590750|002225684|002530908	487015	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559428128	10188249	10188250	3p25.3	A	ACC	Pathogenic	NM_000551.4(VHL):c.393_394dup (p.Gln132fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625243	625243	000767265	613575	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030813	10188251	10188251	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.394C>T (p.Gln132Ter)	VHL	not provided|Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|193300|263400;193300	NA|892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/288749	288749	000404768|000767266|001859684	272986	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1347416980	10188252	10188252	3p25.3	A	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.395A>C (p.Gln132Pro)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/496063	496063	000589183|002377215	486953	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559428134	10188252	10188252	3p25.3	CA	C	Pathogenic	NM_000551.4(VHL):c.397del (p.Thr133fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625244	625244	000767267	613576	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1131690961	10188254	10188254	3p25.3	A	C	Likely pathogenic	NM_000551.4(VHL):c.397A>C (p.Thr133Pro)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/428808	428808	000492347	420447	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188256	10188282	3p25.3	CTGAATTATTTGTGCCATCTCTCAATGT	C	Likely pathogenic	NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1737106	1737106	002359483	1790305	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188257	10188257	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.400G>T (p.Glu134Ter)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1069709	1069709	001381653	1059564	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025646	10188258	10188258	3p25.3	GA	G	Pathogenic	NM_000551.4(VHL):c.402del (p.Glu134fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223204	223204	000208816	224935	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs119103278	10188262	10188262	3p25.3	A	C	Pathogenic	NM_000551.4(VHL):c.405A>C (p.Leu135Phe)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2221	2221	000002307	17260	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs397516442	10188263	10188263	3p25.3	AT	A	Pathogenic	NM_000551.4(VHL):c.408del (p.Phe136fs)	VHL	Von Hippel-Lindau syndrome|not provided	193300|NA	892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/43601	43601	000036544|000679039	52770	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030833	10188264	10188264	3p25.3	T	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	VHL	Von Hippel-Lindau syndrome|not provided	193300|NA	892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/496064	496064	000587621|000679038	487032	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559428164	10188269	10188269	3p25.3	GC	G	Pathogenic	NM_000551.4(VHL):c.413del (p.Pro138fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625245	625245	000767269	613577	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025648	10188271	10188271	3p25.3	A	G	Pathogenic	NM_000551.4(VHL):c.414A>G (p.Pro138=)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|not provided	193300|NA|193300;263400|NA	892|140162|892;238557|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223206	223206	000208865|000216698|000469600|001636725	224936	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025649	10188272	10188273	3p25.3	ATC	A	Pathogenic	NM_000551.4(VHL):c.419_420del (p.Leu140fs)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223207	223207	000208805|000631281	224937	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1131690955	10188275	10188276	3p25.3	C	CA	Pathogenic	NM_000551.4(VHL):c.418_419insA (p.Leu140fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/428797	428797	000492267	420448	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559428180	10188276	10188284	3p25.3	TCAATGTTG	ACAATTATTTGTGCCATCTCTCAA	Likely pathogenic	NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625246	625246	000767270	613578	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553619976	10188277	10188278	3p25.3	C	CA	Pathogenic	NM_000551.4(VHL):c.422dup (p.Asn141fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	263400;193300|NA	238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/411979	411979	000474557|000564069	393564	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10188282	10188282	3p25.3	GT	G	Pathogenic	NM_000551.4(VHL):c.426del (p.Asp143fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1739241	1739241	002330016	1797611	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025651	10188287	10188287	3p25.3	CG	C	Pathogenic	NM_000551.4(VHL):c.431del (p.Gly144fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223209	223209	000208791	224939	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs869025650	10188287	10188287	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.430G>T (p.Gly144Ter)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223208	223208	000208850|000692586	224938	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559428217	10188289	10188295	3p25.3	GACAGCCT	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.433_439del (p.Gln145fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625248	625248	000767272	613580	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs749704215	10188290	10188290	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.433C>T (p.Gln145Ter)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625249	625249	000767273	613581	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025652	10188292	10188293	3p25.3	AGC	A	Pathogenic	NM_000551.4(VHL):c.435_436del (p.Gln145fs)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223210	223210	000208807|000706591	224940	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025653	10188296	10188297	3p25.3	A	AT	Pathogenic	NM_000551.4(VHL):c.444dup (p.Ala149fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223211	223211	000208839	224942	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs869025653	10188297	10188297	3p25.3	AT	A	Pathogenic	NM_000551.4(VHL):c.444del (p.Phe148fs)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223212	223212	000208793|001387330	224941	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559428232	10188301	10188302	3p25.3	T	TG	Pathogenic	NM_000551.4(VHL):c.445dup (p.Ala149fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625250	625250	000767274	613582	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs587780077	10188302	10188302	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.445G>A (p.Ala149Thr)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223213	223213	000208822|002327073	224943	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs587780077	10188302	10188302	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.445G>C (p.Ala149Pro)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223214	223214	000208855|001853329	224944	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs587780077	10188302	10188302	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.445G>T (p.Ala149Ser)	VHL	not provided|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|193300|NA|263400;193300	NA|892|140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/127829	127829	000115746|000208783|000492260|001854559	133286	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1696266503	10188303	10188303	3p25.3	C	T	Likely pathogenic	NM_000551.4(VHL):c.446C>T (p.Ala149Val)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/1018515	1018515	001317824	1004401	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs794727253	10188305	10188305	3p25.3	CA	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.449del (p.Asn150fs)	VHL	not provided|Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|193300|263400;193300	NA|892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/195093	195093	000175633|000767275|000796988	192254	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1696266605	10188305	10188306	3p25.3	CAA	C	Pathogenic	NM_000551.4(VHL):c.448_449del (p.Asn150fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/856153	856153	001061553	827294	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025655	10188309	10188309	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Neoplasm	NA|193300|193300;263400|NA	140162|892|892;238557|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/428803	428803	000492569|000590238|000705307|002287415	420449	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025655	10188309	10188309	3p25.3	T	G	Pathogenic	NM_000551.4(VHL):c.452T>G (p.Ile151Ser)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223215	223215	000208823	224945	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs869025656	10188311	10188337	3p25.3	CACACTGCCAGGTACTGACGTTTTACTT	C	Pathogenic	NM_000551.4(VHL):c.454_463+17del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223216	223216	000208856	224946	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553619993	10188317	10188317	3p25.3	C	G	Likely pathogenic	NM_000551.4(VHL):c.460C>G (p.Pro154Ala)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/526670	526670	000631264	518742	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553619993	10188317	10188317	3p25.3	C	T	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	VHL	Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome	NA|263400;193300|193300	140162|238557;892|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/486714	486714	000566330|001046833|001420952	473461	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1399097617	10188318	10188318	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.461C>T (p.Pro154Leu)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300;263400|NA	892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/649525	649525	000804483|002336632	630724	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559428267	10188319	10188319	3p25.3	CA	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.462del (p.Val155fs)	VHL	Von Hippel-Lindau syndrome|not provided	193300|NA	892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/625251	625251	000767276|003313142	613583	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025659	10188320	10188320	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.463G>A (p.Val155Met)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223219	223219	000208799|002515564	224947	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025659	10188320	10188320	3p25.3	G	T	Likely pathogenic	NM_000551.4(VHL):c.463G>T (p.Val155Leu)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/825062	825062	001022829	807493	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025657	10188321	10188321	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.463+1G>A	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia|not provided|Hereditary cancer-predisposing syndrome	193300;263400|NA|NA	892;238557|NA|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/526679	526679	000631276|000714168|002334057	518746	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025657	10188321	10188321	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.463+1G>C	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223217	223217	000208796	224948	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10188321	10188321	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.463+1G>T	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	263400;193300|NA	238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1457709	1457709	001972698|002331532	1393649	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030814	10188322	10188322	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.463+2T>C	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided	263400;193300|NA	238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/569414	569414	000690034|000786844	561087	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030814	10188322	10188322	3p25.3	T	G	Likely pathogenic	NM_000551.4(VHL):c.463+2T>G	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/43602	43602	000036545	52771	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10188739	10192620	3p25.3	TAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCC	T	Pathogenic	NM_000551.4(VHL):c.463+439_*991del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997753	997753	001293310	985478	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10188894	10200033	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10188894_10200033del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997760	997760	001293317	985445	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10189293	10194417	3p25.3	GCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCA	G	Pathogenic	NM_000551.4(VHL):c.463+1008_*2803del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997762	997762	001293319	985479	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10189293	10201409	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10189293_10201409del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997735	997735	001293292	985446	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10189323	10202010	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10189323_10202010del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997761	997761	001293318	985447	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10190033	10209132	3p25.3	NA	NA	Pathogenic	NC_000003.11:g.10190033_10209132del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997763	997763	001293320	985448	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10190114	10199947	3p25.3	CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCAGCCAGCTTTATTATTTTTTTTAAGCTGTCTTTGTGTCAAAATGATAGTTCATGCTCCTCTTGTTAAAACCTGCAGGCCGAGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGACCAAGGCGGATGGATCACCTGAGGTCAGGAGCTGAAGACCAGCCTGGCTAACATGGTGAAACCTCATCTCCACTTAAAATACAAAAATTGCCGGCCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGGTGAAACCCCGTCTCTATTAAAAAATAGAAAAAATTAGGCGGGCGTGGTGGTGAGCGCCTGTAGTCCCAGCTACTCGAGAGCCTGAGGCAGGAGAATGGCATGAACCTGGAAGGCGGAGCTTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAACCTGGGCGACAGAGTGAGACACCGTCTCAAAAAAAAAAACAAAAAACAAAAATTATCCAGGTGTGGCGGTGGGCGCCTGTGAGGCAGGCGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAAAAAGAAACCAAAAAAACAAAAAAAAAACATGCCGTTTGAGTACTGTGTTTTTGGTGTTGTCCAAGGAAAATTAAAAACCTGTAGCATGAATAATGTTTGTTTTTCATTTCGAATCTTGTGAATGTATTAAATATATCGCTCTTAAGAGACGGTGAAGTTCCTATTTCAAGTTTTTTTTTTTTTTTTTTTTTTTAAAGCTGTTTTTTAATACATTAAATGGTGCTGAGTAAAGGAAATAGGCAGGGTGTGTTGTGTGGTGTTTTAACTAGGCGCTTCTCTCTCAGAGAGTTTTGAAACCTGTTTACATAAAGGCCCAGGATGGGAAGGAGATCCAAACATAAGCCACCAGCCTCATTCCAAGTCTCTTCTATTTCCAACCCTGGATTTTTTTTTTTTATTTAACATTGTTTCTTTTAGCTTTATTTTTCTTATAAAAGAAATGTATCACTATAAAAAATTACACACTACAGAAAAATATTAAGAAGAAAAACATTCACATCGGAAACAAAGTTTTTTCCCATGAAAACAGAACCCAAAAGGGTAAGTGGTTAGTATTTCACCAGCAATTATGTTGAGAATAAGGCCAGGCGAGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAGGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTAAAAAATTAGCTGGGTGTGGTGGCATGTACCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCTAGCCTGGGCAACGAGTGAAACTCCGTCTCAAAAGAAAAAAAAAAAAAAATATATATATATATATAGAGAGAGAGAGAGAGAATACCACAGTGAGGGCATGGGCTAGAAATCAGTGCACTAAGGATATGAAATAGATGTCAATGTGAACTTTTCGGATACTTTGACCCTGGGTCTTTGTATCCTCTTCTTAGCACCTCAGTCCCACGCTCTGCTAGTCATTGGCTTCCTGATACCCCTTCAATACAGACTGAGTATCCCTAATCCAAAAATTCCAAATCCAAAGCACTCCAAAATCCAAGAGTCCCAACGTGACGCCACAAGTGGAAAGTTCCACATGTGAGTACTTAACACAAACTTGTTTCACGTGCAAAACTGTGGAAAATATTGCTTACAATTACCTTCAGCCTTTGTCTGTAAGGTGTTTATGAAACTGGTGTTATGATGTATATGTTTTCTTTTTTTGTTCCTGGCTCATAACTCCCATAGCCCTTGTTACGGATGTGAGCCACCTTGCCTGGCTAATTTTTAAGTTTTTTGTAGAGATGGGGTCTCGCTGTGTTGCCCAGGCTGGTTTTAACTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGCCCTGGGATTACAGGTGAGATTACAACCCTCATTTCAGAGAAGGTCCTACCCCATACCCTGGGGGAAGGAATGGTGACATCATAAAGCCTCGTTAAAACCCATGAGGACAGTGGAGAGTGTCAGGATAGCTGAACTACGTGTAGAGGTTCCTGGAGGGTGGTGCGCCCAGGGAGGGGACAGAAGCTCTGCGCCCCTTATCCCATACCTTGGTGTACGCATCTCTTCATCTGTATCCTTCGTAATATCCTTTATGATAAACCAGGTAGGCCGGGCGTGGTGGCTCACACATATAATCCCAGCACTTTGGGAGGCTGAGGTAGGAGGATTGCTTCAGCCTGGGAGTTCAAGATAACATCATAGTGAGATCCTGTCTCTCCTAGAAAAAAAAAGAACAACCAGGAGTGGTGGCGCATGCTTGCAGTCCCAGCTGTTCAGTTTGCACTCCAGCCTGGGAGACAGAGCAAGACCTGCTGTCTCAAAAAAAAAAGACTGGTAAACATTTTTCACTGAGTTCTGTTAGCCACTCCAGCAAATTAAACCCAAAGCGAAGGTGGTGGGAACCCCAACTTGAAGCTGGTTGGTCAGAAGTTCTGGAGCCCTAAACTTGCTACTGGTGTGTGGGTGGGGGCAGTCTTGGGGACTGAGGCCTCAACCTGCAGGATCTGATATTATTTCCAGAAAGATGGTGTTGGAAGTGAATTAGAGGATACCTAATTGGTGTTCACTGCAGAATTGATTGCTTGCTCGCTCTCGGGAAGAAATCTACACATTTGGACACGAAAGTGTTCTGGGTTGGTATTGTGTTAGTGTGGAATCTAGAGGAAAAACAGTTTTTCTGAAACAGAAAGGTAAATGAATTTCGCCTTTAGACTTGGGTCCCATCCTCAAGATACCTCATATATATGCACATATTCCAAAATACAAAAAAATCTGAAATTGGAAACACCTCTGGTCCCAAGCATTTCCAATGAGGGACATTCAACTTGTTCCCCTTTCTTTCGGCACACCTAAACTGCCTGCCCCAACAAAACATTTTCTTGTCCCCACCCCTTACCACACATACCCAGTAGTCCATTGGCAGGTCACAGAAAATTGAGGTACACGTATTATGGTCATGAGAAGGATTGGGCAGTAGCACTCAATGTATGAGAGGGAGAAAAACCCACAAAACTTATTTCAAAATTCAAAACATGAAACCGCAGGAAAATATAAGTCTGTTTGACATACAAACTAATGGCAGTAATCTCTCTCCCTGTCTGTCAGAAGGAAAAACACGAAAGATTGTTTCGTTCCAATTGGGAAAAGTTGAATCCTGGGGGCCTGGAGCTGGCCCCACAGATGCTGATAACAGAGCTGAGGTTACTGAAAGGCTTGGGGGAAGTCCTGTTGAACCATTTCATCTTAACATAAGTTGGAGGAGACTTAATTGGGCAAAGGACAGTTTAGCAATTTGCTTGATGGGGAGTGACATGAGTTGATGGATCTTCCCTTGTAGGAGGGTGTTCATTACCTAGGCCCAACCCAAGAATTTTGAGAACTCTTGTTGTAGCTATTCCATGCTCAGAAACCTCTGATAGGAACTGTGGTAAGGGCTCGTATTAGTCTGTTCTCATGCTGTTATGAAGGAATACCCAAGACTGTGTAATTAATAAAGAAAAGAGGTTTAATTGACACAGTTGCTCACAGCTGGGGAGGCCTCAGGAAACTTAACAATCATGGTGGAAGGCACCTCTTCACAGGGCAGCAGGAGAGAGAATGAATGCCAGCAGGGGAAATGGCAGATGCTTATAAAACCATTAGATCTCATGAAAACTCTGTCACCATTGGCCAGACGTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCACGACCAGCCTGGCCAAGGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGAGAATTATTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGGTTGTGCCACTGCACTCCAGCCTGGGCGATAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAACTCTGTCACCATCATGAGAACAGCCTGGGGAAAATTACCTCCCATGATTTGATTAAACCCTCCCATGATATATGGGGATTACAATTCAAGATGAGATCTGGGGGGGACACAGCCAAACCGTATCAGGGCTGTTCCAGCAGGTCTGGATTACCCTGGCGTGGAGCAACTCCAAGCAGTAGGGAGGATTTTGAGAAGGTCTAGTGTGCCTCTGGGGCAGCTGTTTTCCAAATACTCGTTTATACTTGGCAGCCTCCAGGATTTCCACCCCCCTGATAGATGCAGAAAGCAGATCCCTCTGGAACAGACTCCAGTATTGGAAATAAATGTACATGTATGGGAGATTGCCCAAATTAAGTATGGCACTCCTAAATAAGCCATTAAAAAGGATAGGGGGCCAGGCGCTGTGGCTCACACCTGCAATATCAGCGCTTTGGGAGGCTGAGGCTAGAGAATCACTGGAGGAGAGTTTGAGACCAGCCTTGGCAACATAGTGAGACCTCCGTCTCTACCAAAAAAAAAAAAAAAAAAAAGGTAAAAAGAATAGGATAGGATAGAGGTTTACTCATCTTTCTGAGAGAGAAAGAGTAGCCACTTTTTTTTTTTTTTAATTTTTTTCTTGAGAGAGAATCTCATTGTGTTGCTGAGGCTGGAGTGCAGTGGCGTTAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGCCACCATGCCTGTCTAATTTTTAATATTTTTCGTAGAGACAGGGTTTCACCATGTTGGCCGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCTCGCCTTGGCCTCACAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCTGAAATTTTTATTTTTTAAATTATAATAGAGACAGGGTCTTGTCATGTTGCCCAGGCTGCTCTTGAACACCTGGGCTCAGGCAGTCCTCCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGATAGGCATGCACCACCACACCTGGCCTTATGTTTGTTTTTCTTAAAATTTTTTTTGTTTGTTTCTGTTTTTTTGTTTGTGCTTTTTTTTGCCTTTTTTCTTTTTTTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCTATCTGGGCTCACTGCAAGCCCCACCTCCTGGATTCACGCCATTCTCCTGCT	C	Pathogenic	NC_000003.12:g.10148440_10158273del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997764	997764	001293321	985480	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10190210	10200045	3p25.3	GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCAGCCAGCTTTATTATTTTTTTTAAGCTGTCTTTGTGTCAAAATGATAGTTCATGCTCCTCTTGTTAAAACCTGCAGGCCGAGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGACCAAGGCGGATGGATCACCTGAGGTCAGGAGCTGAAGACCAGCCTGGCTAACATGGTGAAACCTCATCTCCACTTAAAATACAAAAATTGCCGGCCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGGTGAAACCCCGTCTCTATTAAAAAATAGAAAAAATTAGGCGGGCGTGGTGGTGAGCGCCTGTAGTCCCAGCTACTCGAGAGCCTGAGGCAGGAGAATGGCATGAACCTGGAAGGCGGAGCTTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAACCTGGGCGACAGAGTGAGACACCGTCTCAAAAAAAAAAACAAAAAACAAAAATTATCCAGGTGTGGCGGTGGGCGCCTGTGAGGCAGGCGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAAAAAGAAACCAAAAAAACAAAAAAAAAACATGCCGTTTGAGTACTGTGTTTTTGGTGTTGTCCAAGGAAAATTAAAAACCTGTAGCATGAATAATGTTTGTTTTTCATTTCGAATCTTGTGAATGTATTAAATATATCGCTCTTAAGAGACGGTGAAGTTCCTATTTCAAGTTTTTTTTTTTTTTTTTTTTTTTAAAGCTGTTTTTTAATACATTAAATGGTGCTGAGTAAAGGAAATAGGCAGGGTGTGTTGTGTGGTGTTTTAACTAGGCGCTTCTCTCTCAGAGAGTTTTGAAACCTGTTTACATAAAGGCCCAGGATGGGAAGGAGATCCAAACATAAGCCACCAGCCTCATTCCAAGTCTCTTCTATTTCCAACCCTGGATTTTTTTTTTTTATTTAACATTGTTTCTTTTAGCTTTATTTTTCTTATAAAAGAAATGTATCACTATAAAAAATTACACACTACAGAAAAATATTAAGAAGAAAAACATTCACATCGGAAACAAAGTTTTTTCCCATGAAAACAGAACCCAAAAGGGTAAGTGGTTAGTATTTCACCAGCAATTATGTTGAGAATAAGGCCAGGCGAGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAGGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTAAAAAATTAGCTGGGTGTGGTGGCATGTACCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCTAGCCTGGGCAACGAGTGAAACTCCGTCTCAAAAGAAAAAAAAAAAAAAATATATATATATATATAGAGAGAGAGAGAGAGAATACCACAGTGAGGGCATGGGCTAGAAATCAGTGCACTAAGGATATGAAATAGATGTCAATGTGAACTTTTCGGATACTTTGACCCTGGGTCTTTGTATCCTCTTCTTAGCACCTCAGTCCCACGCTCTGCTAGTCATTGGCTTCCTGATACCCCTTCAATACAGACTGAGTATCCCTAATCCAAAAATTCCAAATCCAAAGCACTCCAAAATCCAAGAGTCCCAACGTGACGCCACAAGTGGAAAGTTCCACATGTGAGTACTTAACACAAACTTGTTTCACGTGCAAAACTGTGGAAAATATTGCTTACAATTACCTTCAGCCTTTGTCTGTAAGGTGTTTATGAAACTGGTGTTATGATGTATATGTTTTCTTTTTTTGTTCCTGGCTCATAACTCCCATAGCCCTTGTTACGGATGTGAGCCACCTTGCCTGGCTAATTTTTAAGTTTTTTGTAGAGATGGGGTCTCGCTGTGTTGCCCAGGCTGGTTTTAACTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGCCCTGGGATTACAGGTGAGATTACAACCCTCATTTCAGAGAAGGTCCTACCCCATACCCTGGGGGAAGGAATGGTGACATCATAAAGCCTCGTTAAAACCCATGAGGACAGTGGAGAGTGTCAGGATAGCTGAACTACGTGTAGAGGTTCCTGGAGGGTGGTGCGCCCAGGGAGGGGACAGAAGCTCTGCGCCCCTTATCCCATACCTTGGTGTACGCATCTCTTCATCTGTATCCTTCGTAATATCCTTTATGATAAACCAGGTAGGCCGGGCGTGGTGGCTCACACATATAATCCCAGCACTTTGGGAGGCTGAGGTAGGAGGATTGCTTCAGCCTGGGAGTTCAAGATAACATCATAGTGAGATCCTGTCTCTCCTAGAAAAAAAAAGAACAACCAGGAGTGGTGGCGCATGCTTGCAGTCCCAGCTGTTCAGTTTGCACTCCAGCCTGGGAGACAGAGCAAGACCTGCTGTCTCAAAAAAAAAAGACTGGTAAACATTTTTCACTGAGTTCTGTTAGCCACTCCAGCAAATTAAACCCAAAGCGAAGGTGGTGGGAACCCCAACTTGAAGCTGGTTGGTCAGAAGTTCTGGAGCCCTAAACTTGCTACTGGTGTGTGGGTGGGGGCAGTCTTGGGGACTGAGGCCTCAACCTGCAGGATCTGATATTATTTCCAGAAAGATGGTGTTGGAAGTGAATTAGAGGATACCTAATTGGTGTTCACTGCAGAATTGATTGCTTGCTCGCTCTCGGGAAGAAATCTACACATTTGGACACGAAAGTGTTCTGGGTTGGTATTGTGTTAGTGTGGAATCTAGAGGAAAAACAGTTTTTCTGAAACAGAAAGGTAAATGAATTTCGCCTTTAGACTTGGGTCCCATCCTCAAGATACCTCATATATATGCACATATTCCAAAATACAAAAAAATCTGAAATTGGAAACACCTCTGGTCCCAAGCATTTCCAATGAGGGACATTCAACTTGTTCCCCTTTCTTTCGGCACACCTAAACTGCCTGCCCCAACAAAACATTTTCTTGTCCCCACCCCTTACCACACATACCCAGTAGTCCATTGGCAGGTCACAGAAAATTGAGGTACACGTATTATGGTCATGAGAAGGATTGGGCAGTAGCACTCAATGTATGAGAGGGAGAAAAACCCACAAAACTTATTTCAAAATTCAAAACATGAAACCGCAGGAAAATATAAGTCTGTTTGACATACAAACTAATGGCAGTAATCTCTCTCCCTGTCTGTCAGAAGGAAAAACACGAAAGATTGTTTCGTTCCAATTGGGAAAAGTTGAATCCTGGGGGCCTGGAGCTGGCCCCACAGATGCTGATAACAGAGCTGAGGTTACTGAAAGGCTTGGGGGAAGTCCTGTTGAACCATTTCATCTTAACATAAGTTGGAGGAGACTTAATTGGGCAAAGGACAGTTTAGCAATTTGCTTGATGGGGAGTGACATGAGTTGATGGATCTTCCCTTGTAGGAGGGTGTTCATTACCTAGGCCCAACCCAAGAATTTTGAGAACTCTTGTTGTAGCTATTCCATGCTCAGAAACCTCTGATAGGAACTGTGGTAAGGGCTCGTATTAGTCTGTTCTCATGCTGTTATGAAGGAATACCCAAGACTGTGTAATTAATAAAGAAAAGAGGTTTAATTGACACAGTTGCTCACAGCTGGGGAGGCCTCAGGAAACTTAACAATCATGGTGGAAGGCACCTCTTCACAGGGCAGCAGGAGAGAGAATGAATGCCAGCAGGGGAAATGGCAGATGCTTATAAAACCATTAGATCTCATGAAAACTCTGTCACCATTGGCCAGACGTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCACGACCAGCCTGGCCAAGGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGAGAATTATTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGGTTGTGCCACTGCACTCCAGCCTGGGCGATAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAACTCTGTCACCATCATGAGAACAGCCTGGGGAAAATTACCTCCCATGATTTGATTAAACCCTCCCATGATATATGGGGATTACAATTCAAGATGAGATCTGGGGGGGACACAGCCAAACCGTATCAGGGCTGTTCCAGCAGGTCTGGATTACCCTGGCGTGGAGCAACTCCAAGCAGTAGGGAGGATTTTGAGAAGGTCTAGTGTGCCTCTGGGGCAGCTGTTTTCCAAATACTCGTTTATACTTGGCAGCCTCCAGGATTTCCACCCCCCTGATAGATGCAGAAAGCAGATCCCTCTGGAACAGACTCCAGTATTGGAAATAAATGTACATGTATGGGAGATTGCCCAAATTAAGTATGGCACTCCTAAATAAGCCATTAAAAAGGATAGGGGGCCAGGCGCTGTGGCTCACACCTGCAATATCAGCGCTTTGGGAGGCTGAGGCTAGAGAATCACTGGAGGAGAGTTTGAGACCAGCCTTGGCAACATAGTGAGACCTCCGTCTCTACCAAAAAAAAAAAAAAAAAAAAGGTAAAAAGAATAGGATAGGATAGAGGTTTACTCATCTTTCTGAGAGAGAAAGAGTAGCCACTTTTTTTTTTTTTTAATTTTTTTCTTGAGAGAGAATCTCATTGTGTTGCTGAGGCTGGAGTGCAGTGGCGTTAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGCCACCATGCCTGTCTAATTTTTAATATTTTTCGTAGAGACAGGGTTTCACCATGTTGGCCGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCTCGCCTTGGCCTCACAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCTGAAATTTTTATTTTTTAAATTATAATAGAGACAGGGTCTTGTCATGTTGCCCAGGCTGCTCTTGAACACCTGGGCTCAGGCAGTCCTCCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGATAGGCATGCACCACCACACCTGGCCTTATGTTTGTTTTTCTTAAAATTTTTTTTGTTTGTTTCTGTTTTTTTGTTTGTGCTTTTTTTTGCCTTTTTTCTTTTTTTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCTATCTGGGCTCACTGCAAGCCCCACCTCCTGGATTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCA	G	Pathogenic	NC_000003.12:g.10148566_10158401del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997765	997765	001293322	985481	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10190242	10194417	3p25.3	GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCA	G	Pathogenic	NM_000551.4(VHL):c.464-1226_*2771del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997767	997767	001293324	985482	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10190251	10200086	3p25.3	GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCAGCCAGCTTTATTATTTTTTTTAAGCTGTCTTTGTGTCAAAATGATAGTTCATGCTCCTCTTGTTAAAACCTGCAGGCCGAGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGACCAAGGCGGATGGATCACCTGAGGTCAGGAGCTGAAGACCAGCCTGGCTAACATGGTGAAACCTCATCTCCACTTAAAATACAAAAATTGCCGGCCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGGTGAAACCCCGTCTCTATTAAAAAATAGAAAAAATTAGGCGGGCGTGGTGGTGAGCGCCTGTAGTCCCAGCTACTCGAGAGCCTGAGGCAGGAGAATGGCATGAACCTGGAAGGCGGAGCTTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAACCTGGGCGACAGAGTGAGACACCGTCTCAAAAAAAAAAACAAAAAACAAAAATTATCCAGGTGTGGCGGTGGGCGCCTGTGAGGCAGGCGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAAAAAGAAACCAAAAAAACAAAAAAAAAACATGCCGTTTGAGTACTGTGTTTTTGGTGTTGTCCAAGGAAAATTAAAAACCTGTAGCATGAATAATGTTTGTTTTTCATTTCGAATCTTGTGAATGTATTAAATATATCGCTCTTAAGAGACGGTGAAGTTCCTATTTCAAGTTTTTTTTTTTTTTTTTTTTTTTAAAGCTGTTTTTTAATACATTAAATGGTGCTGAGTAAAGGAAATAGGCAGGGTGTGTTGTGTGGTGTTTTAACTAGGCGCTTCTCTCTCAGAGAGTTTTGAAACCTGTTTACATAAAGGCCCAGGATGGGAAGGAGATCCAAACATAAGCCACCAGCCTCATTCCAAGTCTCTTCTATTTCCAACCCTGGATTTTTTTTTTTTATTTAACATTGTTTCTTTTAGCTTTATTTTTCTTATAAAAGAAATGTATCACTATAAAAAATTACACACTACAGAAAAATATTAAGAAGAAAAACATTCACATCGGAAACAAAGTTTTTTCCCATGAAAACAGAACCCAAAAGGGTAAGTGGTTAGTATTTCACCAGCAATTATGTTGAGAATAAGGCCAGGCGAGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAGGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTAAAAAATTAGCTGGGTGTGGTGGCATGTACCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCTAGCCTGGGCAACGAGTGAAACTCCGTCTCAAAAGAAAAAAAAAAAAAAATATATATATATATATAGAGAGAGAGAGAGAGAATACCACAGTGAGGGCATGGGCTAGAAATCAGTGCACTAAGGATATGAAATAGATGTCAATGTGAACTTTTCGGATACTTTGACCCTGGGTCTTTGTATCCTCTTCTTAGCACCTCAGTCCCACGCTCTGCTAGTCATTGGCTTCCTGATACCCCTTCAATACAGACTGAGTATCCCTAATCCAAAAATTCCAAATCCAAAGCACTCCAAAATCCAAGAGTCCCAACGTGACGCCACAAGTGGAAAGTTCCACATGTGAGTACTTAACACAAACTTGTTTCACGTGCAAAACTGTGGAAAATATTGCTTACAATTACCTTCAGCCTTTGTCTGTAAGGTGTTTATGAAACTGGTGTTATGATGTATATGTTTTCTTTTTTTGTTCCTGGCTCATAACTCCCATAGCCCTTGTTACGGATGTGAGCCACCTTGCCTGGCTAATTTTTAAGTTTTTTGTAGAGATGGGGTCTCGCTGTGTTGCCCAGGCTGGTTTTAACTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGCCCTGGGATTACAGGTGAGATTACAACCCTCATTTCAGAGAAGGTCCTACCCCATACCCTGGGGGAAGGAATGGTGACATCATAAAGCCTCGTTAAAACCCATGAGGACAGTGGAGAGTGTCAGGATAGCTGAACTACGTGTAGAGGTTCCTGGAGGGTGGTGCGCCCAGGGAGGGGACAGAAGCTCTGCGCCCCTTATCCCATACCTTGGTGTACGCATCTCTTCATCTGTATCCTTCGTAATATCCTTTATGATAAACCAGGTAGGCCGGGCGTGGTGGCTCACACATATAATCCCAGCACTTTGGGAGGCTGAGGTAGGAGGATTGCTTCAGCCTGGGAGTTCAAGATAACATCATAGTGAGATCCTGTCTCTCCTAGAAAAAAAAAGAACAACCAGGAGTGGTGGCGCATGCTTGCAGTCCCAGCTGTTCAGTTTGCACTCCAGCCTGGGAGACAGAGCAAGACCTGCTGTCTCAAAAAAAAAAGACTGGTAAACATTTTTCACTGAGTTCTGTTAGCCACTCCAGCAAATTAAACCCAAAGCGAAGGTGGTGGGAACCCCAACTTGAAGCTGGTTGGTCAGAAGTTCTGGAGCCCTAAACTTGCTACTGGTGTGTGGGTGGGGGCAGTCTTGGGGACTGAGGCCTCAACCTGCAGGATCTGATATTATTTCCAGAAAGATGGTGTTGGAAGTGAATTAGAGGATACCTAATTGGTGTTCACTGCAGAATTGATTGCTTGCTCGCTCTCGGGAAGAAATCTACACATTTGGACACGAAAGTGTTCTGGGTTGGTATTGTGTTAGTGTGGAATCTAGAGGAAAAACAGTTTTTCTGAAACAGAAAGGTAAATGAATTTCGCCTTTAGACTTGGGTCCCATCCTCAAGATACCTCATATATATGCACATATTCCAAAATACAAAAAAATCTGAAATTGGAAACACCTCTGGTCCCAAGCATTTCCAATGAGGGACATTCAACTTGTTCCCCTTTCTTTCGGCACACCTAAACTGCCTGCCCCAACAAAACATTTTCTTGTCCCCACCCCTTACCACACATACCCAGTAGTCCATTGGCAGGTCACAGAAAATTGAGGTACACGTATTATGGTCATGAGAAGGATTGGGCAGTAGCACTCAATGTATGAGAGGGAGAAAAACCCACAAAACTTATTTCAAAATTCAAAACATGAAACCGCAGGAAAATATAAGTCTGTTTGACATACAAACTAATGGCAGTAATCTCTCTCCCTGTCTGTCAGAAGGAAAAACACGAAAGATTGTTTCGTTCCAATTGGGAAAAGTTGAATCCTGGGGGCCTGGAGCTGGCCCCACAGATGCTGATAACAGAGCTGAGGTTACTGAAAGGCTTGGGGGAAGTCCTGTTGAACCATTTCATCTTAACATAAGTTGGAGGAGACTTAATTGGGCAAAGGACAGTTTAGCAATTTGCTTGATGGGGAGTGACATGAGTTGATGGATCTTCCCTTGTAGGAGGGTGTTCATTACCTAGGCCCAACCCAAGAATTTTGAGAACTCTTGTTGTAGCTATTCCATGCTCAGAAACCTCTGATAGGAACTGTGGTAAGGGCTCGTATTAGTCTGTTCTCATGCTGTTATGAAGGAATACCCAAGACTGTGTAATTAATAAAGAAAAGAGGTTTAATTGACACAGTTGCTCACAGCTGGGGAGGCCTCAGGAAACTTAACAATCATGGTGGAAGGCACCTCTTCACAGGGCAGCAGGAGAGAGAATGAATGCCAGCAGGGGAAATGGCAGATGCTTATAAAACCATTAGATCTCATGAAAACTCTGTCACCATTGGCCAGACGTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCACGACCAGCCTGGCCAAGGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGAGAATTATTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGGTTGTGCCACTGCACTCCAGCCTGGGCGATAGAGTAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAACTCTGTCACCATCATGAGAACAGCCTGGGGAAAATTACCTCCCATGATTTGATTAAACCCTCCCATGATATATGGGGATTACAATTCAAGATGAGATCTGGGGGGGACACAGCCAAACCGTATCAGGGCTGTTCCAGCAGGTCTGGATTACCCTGGCGTGGAGCAACTCCAAGCAGTAGGGAGGATTTTGAGAAGGTCTAGTGTGCCTCTGGGGCAGCTGTTTTCCAAATACTCGTTTATACTTGGCAGCCTCCAGGATTTCCACCCCCCTGATAGATGCAGAAAGCAGATCCCTCTGGAACAGACTCCAGTATTGGAAATAAATGTACATGTATGGGAGATTGCCCAAATTAAGTATGGCACTCCTAAATAAGCCATTAAAAAGGATAGGGGGCCAGGCGCTGTGGCTCACACCTGCAATATCAGCGCTTTGGGAGGCTGAGGCTAGAGAATCACTGGAGGAGAGTTTGAGACCAGCCTTGGCAACATAGTGAGACCTCCGTCTCTACCAAAAAAAAAAAAAAAAAAAAGGTAAAAAGAATAGGATAGGATAGAGGTTTACTCATCTTTCTGAGAGAGAAAGAGTAGCCACTTTTTTTTTTTTTTAATTTTTTTCTTGAGAGAGAATCTCATTGTGTTGCTGAGGCTGGAGTGCAGTGGCGTTAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGCCACCATGCCTGTCTAATTTTTAATATTTTTCGTAGAGACAGGGTTTCACCATGTTGGCCGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCTCGCCTTGGCCTCACAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCTGAAATTTTTATTTTTTAAATTATAATAGAGACAGGGTCTTGTCATGTTGCCCAGGCTGCTCTTGAACACCTGGGCTCAGGCAGTCCTCCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGATAGGCATGCACCACCACACCTGGCCTTATGTTTGTTTTTCTTAAAATTTTTTTTGTTTGTTTCTGTTTTTTTGTTTGTGCTTTTTTTTGCCTTTTTTCTTTTTTTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCTATCTGGGCTCACTGCAAGCCCCACCTCCTGGATTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCT	G	Pathogenic	NC_000003.12:g.10148615_10158450del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/997766	997766	001293323	985483	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191461	10191659	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10149777)_(10149975_?)del	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/651806	651806	000807235	650965	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191461	10191719	3p25.3	NA	NA	Pathogenic	NC_000003.12:g.(?_10149777)_(10150035_?)del	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/833062	833062	001033522	819310	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030816	10191469	10191469	3p25.3	A	G	Pathogenic	NM_000551.4(VHL):c.464-2A>G	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|not provided|Nonpapillary renal cell carcinoma;Pheochromocytoma;Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400|NA|144700;171300;193300;263400	892|140162|892;238557|NA|422526;29072;892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/223222	223222	000208810|000216737|000824251|001542804|001535844	224950	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10191469	10191485	3p25.3	CAGTGTATACTCTGAAAG	C	Pathogenic	NM_000551.3(VHL):c.464_480del17	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1742105	1742105	002342607	1801747	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030817	10191470	10191470	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.464-1G>A	VHL	Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|263400;193300	892|NA|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/43603	43603	000036546|000724861|001067480	52772	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030817	10191470	10191470	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.464-1G>C	VHL	Von Hippel-Lindau syndrome|not provided	193300|NA	892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223220	223220	000208828|001706206	224951	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030817	10191470	10191470	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.464-1G>T	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided	193300|263400;193300|NA	892|238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223221	223221	000208870|001853330|003329261	224952	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191471	10191471	3p25.3	T	G	Likely pathogenic	NM_000551.4(VHL):c.464T>G (p.Val155Gly)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/2203307	2203307	002651640	1925536	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191471	10191649	3p25.3	NA	NA	Pathogenic	NM_000551.3(VHL):c.(?_464)_642+?del	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/177805	177805	000154435	173676	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10191471	10195354	3p25.3	NA	NA	Pathogenic	NM_000551.3(VHL):c.464-?_*3705del	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/238109	238109	000232190	239029	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs397516441	10191474	10191474	3p25.3	A	G	Pathogenic	NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	VHL	Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|NA|193300;263400	892|NA|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/43600	43600	000036543|000487045|000492752|000631280	52769	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025660	10191477	10191477	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.470C>T (p.Thr157Ile)	VHL	Von Hippel-Lindau syndrome|not provided	193300|NA	892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/223223	223223	000208862|001289415	224953	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025661	10191477	10191478	3p25.3	C	CT	Likely pathogenic	NM_000551.4(VHL):c.471dup (p.Leu158fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223224	223224	000208814	224954	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1559429613	10191479	10191479	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.472C>G (p.Leu158Val)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome	263400;193300|NA|NA	238557;892|NA|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/567944	567944	000688156|001575396|002334267	559265	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs121913346	10191480	10191480	3p25.3	T	A	Likely pathogenic	NM_000551.4(VHL):c.473T>A (p.Leu158Gln)	LOC107303340;VHL	Papillary renal cell carcinoma type 1	605074	47044	http://www.ncbi.nlm.nih.gov/clinvar/variation/376048	376048	000428620	362927	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs121913346	10191480	10191480	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.473T>C (p.Leu158Pro)	VHL	not provided|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	NA|193300|NA|193300;263400	NA|892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/182980	182980	000161088|000208846|000492547|001072084	180119	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882020	10191481	10191482	3p25.3	G	GA	Pathogenic	NM_000551.4(VHL):c.477dup (p.Glu160fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625252	625252	000767277	613584	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553620305	10191481	10191483	3p25.3	GAA	C	Pathogenic	NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496066	496066	000589692	486958	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575932011	10191482	10191482	3p25.3	A	G	Likely pathogenic	NM_000551.4(VHL):c.475A>G (p.Lys159Glu)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/825149	825149	001023000	807494	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191482	10191482	3p25.3	A	T	Pathogenic	NM_000551.4(VHL):c.475A>T (p.Lys159Ter)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia|Von Hippel-Lindau syndrome	193300;263400|193300	892;238557|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451803	1451803	002007406|003329425	1426203	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882020	10191482	10191482	3p25.3	GA	G	Pathogenic	NM_000551.4(VHL):c.477del (p.Glu160fs)	VHL	not provided|Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not specified	NA|193300|263400;193300|NA	NA|892|238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/182959	182959	000161061|000208863|000687350|001001406	180120	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs864321641	10191486	10191486	3p25.3	A	T	Likely pathogenic	NM_000551.4(VHL):c.479A>T (p.Glu160Val)	VHL	Pheochromocytoma	171300	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/219157	219157	000203510	217069	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1064794037	10191487	10191491	3p25.3	AGCGAT	A	Pathogenic	NM_000551.4(VHL):c.482_486del (p.Arg161fs)	VHL	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/419677	419677	000480482	406070	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030818	10191488	10191488	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	VHL	not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	NA|263400;193300|NA	NA|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/618484	618484	000756901|001855883|002332535	609491	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030818	10191488	10191488	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	VHL	Von Hippel-Lindau syndrome|not provided|Papillary renal cell carcinoma type 1|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Familial infantile myasthenia	193300|NA|605074|NA|263400;193300|254210	892|NA|47044|140162|238557;892|590	http://www.ncbi.nlm.nih.gov/clinvar/variation/2217	2217	000002301|000161091|000437445|000492225|000791367|001280922	17256	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs730882035	10191489	10191489	3p25.3	G	A	Pathogenic	NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	VHL	not provided|Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	NA|193300|263400;193300|NA	NA|892|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/182983	182983	000161092|000208848|000456958|000563066	180121	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10191489	10191489	3p25.3	G	C	Pathogenic	NM_000551.4(VHL):c.482G>C (p.Arg161Pro)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1743417	1743417	002338068	1805563	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1696355438	10191490	10191490	3p25.3	GA	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.483del (p.Cys162fs)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/928822	928822	001193296|002339489	916887	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1696355550	10191491	10191491	3p25.3	AT	A	Likely pathogenic	NM_000551.4(VHL):c.484del (p.Cys162fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1012181	1012181	001310082	999938	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553620313	10191491	10191491	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/496067	496067	000587033|001060967	487017	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs397516444	10191492	10191492	3p25.3	G	A	Likely pathogenic	NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223225	223225	000208789|003278699	224955	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs397516444	10191492	10191492	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.485G>T (p.Cys162Phe)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/43604	43604	000036548|002513389	52773	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030622	10191493	10191493	3p25.3	C	A	Pathogenic	NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300|193300;263400|NA	892|892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223226	223226	000208851|001061348|003165513	224956	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030622	10191493	10191493	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|not provided|Hereditary cancer-predisposing syndrome	193300|193300;263400|NA|NA	892|892;238557|NA|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223227	223227	000208792|000226031|000679043|000567560	224957	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs28940297	10191495	10191495	3p25.3	T	C	Likely pathogenic	NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	VHL	Renal cell carcinoma with paraneoplastic erythrocytosis|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	NA|263400;193300|NA	NA|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2231	2231	000002319|001231697|003298026	17270	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs28940297	10191495	10191495	3p25.3	T	G	Pathogenic	NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	VHL	Von Hippel-Lindau syndrome;Chuvash polycythemia	193300;263400	892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/411955	411955	000474133	393565	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030819	10191497	10191497	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	VHL	Von Hippel-Lindau syndrome|not provided|Von Hippel-Lindau syndrome;Chuvash polycythemia|Hereditary cancer-predisposing syndrome	193300|NA|193300;263400|NA	892|NA|892;238557|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223228	223228	000208820|000485182|000792769|002336585	224958	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs267607170	10191498	10191498	3p25.3	A	G	Pathogenic	NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|263400;193300	892|140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2238	2238	000002326|001023261|001052383	17277	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1352275281	10191499	10191499	3p25.3	G	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.492G>C (p.Gln164His)	VHL	not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	NA|NA|263400;193300	NA|140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/618485	618485	000756902|001023281|001382402	609492	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1352275281	10191499	10191499	3p25.3	G	T	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.492G>T (p.Gln164His)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome	263400;193300|NA|NA|193300	238557;892|NA|140162|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/456566	456566	000538803|002508221|003302779|003330751	451891	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025663	10191502	10191512	3p25.3	TTGTCCGGAGCC	T	Likely pathogenic	NM_000551.4(VHL):c.496_506del (p.Val166fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223229	223229	000208854	224959	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs104893825	10191503	10191503	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.496G>T (p.Val166Phe)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|not provided	193300|NA|263400;193300|NA	892|140162|238557;892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2224	2224	000002310|000220823|001851578|002288459	17263	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs397516445	10191504	10191504	3p25.3	T	A	Pathogenic	NM_000551.4(VHL):c.497T>A (p.Val166Asp)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625254	625254	000767280	613586	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs397516445	10191504	10191504	3p25.3	T	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.497T>C (p.Val166Ala)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|not provided	193300|NA|NA	892|140162|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/43605	43605	000036549|001023359|001701727	52774	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030820	10191506	10191506	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.499C>G (p.Arg167Gly)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|263400;193300|NA	892|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2219	2219	000002304|000466046|002336073	17258	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030820	10191506	10191506	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	VHL	Von Hippel-Lindau syndrome|Pheochromocytoma|Hereditary cancer-predisposing syndrome|not provided|Papillary renal cell carcinoma type 1|Chuvash polycythemia;Von Hippel-Lindau syndrome|Pheochromocytoma;Chuvash polycythemia;Nonpapillary renal cell carcinoma;Von Hippel-Lindau syndrome	193300|171300|NA|NA|605074|263400;193300|171300;263400;144700;193300	892|29072|140162|NA|47044|238557;892|29072;238557;422526;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2218	2218	000002302|000002303|000132159|000213079|000435817|000627746|000763092	17257	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030821	10191507	10191507	3p25.3	G	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome	NA|193300	140162|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/428799	428799	000492510|000767282	420451	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030821	10191507	10191507	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.500G>T (p.Arg167Leu)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/526685	526685	000631284	518692	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs398123483	10191508	10191509	3p25.3	G	GTTGTCCGT	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	VHL	Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA|263400;193300|NA	892|NA|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/93329	93329	000079210|000723632|000818637|001023415	99236	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10191508	10191523	3p25.3	GGAGCCTAGTCAAGCCT	G	Pathogenic	NM_000551.4(VHL):c.504_519del (p.Ser168fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1070973	1070973	001383309	1059565	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1696357569	10191510	10191511	3p25.3	G	GC	Pathogenic	NM_000551.4(VHL):c.505dup (p.Leu169fs)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/952355	952355	001224455	922984	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191513	10191513	3p25.3	CT	C	Likely pathogenic	NM_000551.4(VHL):c.506del (p.Leu169fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1745148	1745148	002335831	1805994	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1131690962	10191513	10191513	3p25.3	T	C	Likely pathogenic	NM_000551.4(VHL):c.506T>C (p.Leu169Pro)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/428809	428809	000492632	420452	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553620326	10191515	10191515	3p25.3	G	C	Likely pathogenic	NM_000551.4(VHL):c.508G>C (p.Val170Leu)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/828174	828174	001028059	816447	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs864321642	10191516	10191516	3p25.3	T	A	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.509T>A (p.Val170Asp)	VHL	Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|NA|263400;193300	892|NA|140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625256	625256	000767283|001701154|002334429|002533922	613588	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs864321642	10191516	10191516	3p25.3	T	C	Likely pathogenic	NM_000551.4(VHL):c.509T>C (p.Val170Ala)	VHL	Pheochromocytoma	171300	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/219159	219159	000203560	217070	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1575932228	10191524	10191524	3p25.3	G	T	Pathogenic	NM_000551.4(VHL):c.517G>T (p.Glu173Ter)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/825515	825515	001023675	807495	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191530	10191531	3p25.3	T	TA	Pathogenic	NM_000551.4(VHL):c.524dup (p.Tyr175Ter)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2119727	2119727	003054800	2180207	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs193922613	10191531	10191531	3p25.3	A	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/36905	36905	000030589|000492408|000533687	45566	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10191531	10191534	3p25.3	TACAG	T	Pathogenic	NM_000551.4(VHL):c.524_527del (p.Asn174_Tyr175insTer)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1746298	1746298	002340903	1809787	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191532	10191532	3p25.3	C	A	Pathogenic	NM_000551.4(VHL):c.525C>A (p.Tyr175Ter)	LOC107303340;VHL	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1298905	1298905	001727235	1288767	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030835	10191532	10191532	3p25.3	C	G	Pathogenic	NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/182974	182974	000549585|001388392	180122	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559429711	10191533	10191533	3p25.3	CA	C	Pathogenic	NM_000551.4(VHL):c.526del (p.Arg176fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625257	625257	000767284	613589	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1575932266	10191534	10191540	3p25.3	AGGAGACT	A	Pathogenic	NM_000551.4(VHL):c.530_536del (p.Arg177fs)	VHL	Von Hippel-Lindau syndrome;Papillary renal cell carcinoma type 1;Skin adenoma;Cerebellar hemangioblastoma	193300;605074;NA;NA	892;47044;NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/694389	694389	000855722	682317	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1559429717	10191536	10191536	3p25.3	A	T	Pathogenic	NM_000551.4(VHL):c.529A>T (p.Arg177Ter)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625258	625258	000767285	613590	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1553620331	10191538	10191549	3p25.3	ACTGGACATCGT	TC	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)	VHL	not provided|Von Hippel-Lindau syndrome	NA|193300	NA|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/545823	545823	000657387|000660352	536271	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030822	10191540	10191540	3p25.3	T	A	Pathogenic	NM_000551.4(VHL):c.533T>A (p.Leu178Gln)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625260	625260	000767288	613591	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030822	10191540	10191540	3p25.3	T	C	Pathogenic	NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia|Von Hippel-Lindau syndrome	NA|193300;263400|193300	140162|892;238557|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/428795	428795	000492520|000631291|000767287	420453	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030822	10191540	10191540	3p25.3	T	G	Pathogenic	NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/625261	625261	000767289|003279047	613592	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559429736	10191540	10191541	3p25.3	CTG	C	Pathogenic	NM_000551.4(VHL):c.533_534del (p.Leu178fs)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|NA|263400;193300	892|140162|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625259	625259	000767286|002343616|002536594	613593	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025664	10191547	10191550	3p25.3	TCGTC	T	Pathogenic	NM_000551.4(VHL):c.540_543del (p.Val181fs)	VHL	Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome	193300|263400;193300	892|238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223230	223230	000208795|000805034	224960	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1131690958	10191549	10191550	3p25.3	T	TC	Pathogenic	NM_000551.4(VHL):c.543dup (p.Arg182fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/428801	428801	000492761	420454	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559429778	10191554	10191554	3p25.3	GT	G	Likely pathogenic	NM_000551.4(VHL):c.547del (p.Ser183fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625263	625263	000767291	613595	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030823	10191555	10191555	3p25.3	C	A	Pathogenic	NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	VHL	Papillary renal cell carcinoma type 1|Von Hippel-Lindau syndrome|Chuvash polycythemia;Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	605074|193300|263400;193300|NA	47044|892|238557;892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2215	2215	000002299|000208867|000703889|003162205	17254	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1064793878	10191558	10191558	3p25.3	T	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	VHL	not provided|Von Hippel-Lindau syndrome	NA|193300	NA|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/419447	419447	000484822|001258069	406072	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs864622109	10191562	10191562	3p25.3	C	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|NA|193300;263400	892|140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/223233	223233	000208826|000219064|001377065	224963	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs367545984	10191563	10191563	3p25.3	G	T	Likely pathogenic	NM_000551.4(VHL):c.556G>T (p.Glu186Ter)	VHL	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/381602	381602	000432980	367134	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs5030824	10191569	10191569	3p25.3	C	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.562C>G (p.Leu188Val)	VHL	Von Hippel-Lindau syndrome|Pheochromocytoma|Chuvash polycythemia|Hereditary cancer-predisposing syndrome|not provided|Chuvash polycythemia;Von Hippel-Lindau syndrome|Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation	193300|171300|263400|NA|NA|263400;193300|616580	892|29072|238557|140162|NA|238557;892|453499	http://www.ncbi.nlm.nih.gov/clinvar/variation/2225	2225	000002311|000002313|000002312|000210199|000480890|000627743|003330076	17264	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559429824	10191570	10191570	3p25.3	T	A	Likely pathogenic	NM_000551.4(VHL):c.563T>A (p.Leu188Gln)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625265	625265	000767293	613597	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559429824	10191570	10191570	3p25.3	T	C	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	VHL	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	193300|193300;263400	892|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/625266	625266	000767294|002536595	613598	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559429824	10191570	10191570	3p25.3	T	G	Likely pathogenic	NM_000551.4(VHL):c.563T>G (p.Leu188Arg)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/970971	970971	001246640	953293	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1559429829	10191571	10191571	3p25.3	TG	T	Likely pathogenic	NM_000551.4(VHL):c.565del (p.Glu189fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625267	625267	000767295	613599	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs28940301	10191578	10191578	3p25.3	C	G	Likely pathogenic	NM_000551.4(VHL):c.571C>G (p.His191Asp)	VHL	Chuvash polycythemia|Von Hippel-Lindau syndrome;Chuvash polycythemia	263400|193300;263400	238557|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/2235	2235	000002323|001219111	17274	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191580	10191580	3p25.3	AC	A	Pathogenic	NM_000551.4(VHL):c.575del (p.Pro192fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1698896	1698896	002272753	1691272	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191581	10191581	3p25.3	C	A	Likely pathogenic	NM_000551.4(VHL):c.574C>A (p.Pro192Thr)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1488572	1488572	001988653	1420043	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs1131690963	10191588	10191588	3p25.3	T	G	Pathogenic/Likely pathogenic	NM_000551.4(VHL):c.581T>G (p.Val194Gly)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome;Chuvash polycythemia	NA|193300;263400	140162|892;238557	http://www.ncbi.nlm.nih.gov/clinvar/variation/428810	428810	000492180|000547627	420455	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs5030825	10191590	10191590	3p25.3	C	T	Pathogenic	NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	VHL	Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome	NA|193300	140162|892	http://www.ncbi.nlm.nih.gov/clinvar/variation/428794	428794	000492237|001030024	420456	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs869025666	10191590	10191591	3p25.3	C	CAGAA	Likely pathogenic	NM_000551.4(VHL):c.587_590dup (p.Asp197fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223234	223234	000208841	224964	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1553620362	10191591	10191592	3p25.3	CAG	C	Pathogenic	NM_000551.4(VHL):c.585_586del (p.Lys196fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/547831	547831	000660353	537737	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs864321640	10191592	10191593	3p25.3	G	GA	Likely pathogenic	NM_000551.4(VHL):c.588dup (p.Asp197fs)	VHL	Pheochromocytoma	171300	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/219156	219156	000203546	217072	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs281860296	10191593	10191593	3p25.3	A	T	Pathogenic	NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	VHL	Von Hippel-Lindau syndrome|not provided	193300|NA	892|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/196284	196284	000177084|000724622	193445	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10191593	10191593	3p25.3	GA	G	Likely pathogenic	NM_000551.4(VHL):c.588del (p.Asp197fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1750305	1750305	002353572	1807283	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191596	10191596	3p25.3	G	A	Likely pathogenic	NM_000551.4(VHL):c.589G>A (p.Asp197Asn)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1687723	1687723	002251697	1680018	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191597	10191612	3p25.3	GACCTGGAGCGGCTGAC	G	Pathogenic	NM_000551.4(VHL):c.592_607del (p.Leu198fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2474487	2474487	003203189	2442553	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191600	10191600	3p25.3	T	A	Likely pathogenic	NM_000551.4(VHL):c.593T>A (p.Leu198Gln)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1066145	1066145	001377066	1055279	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025667	10191600	10191600	3p25.3	T	C	Likely pathogenic	NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	VHL	Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome	193300|NA	892|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/223235	223235	000208871|001024703	224965	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	NA	10191604	10191604	3p25.3	AG	A	Pathogenic	NM_000551.4(VHL):c.597del (p.Glu199fs)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/2504636	2504636	003233054	2669602	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs754016774	10191606	10191606	3p25.3	G	T	Likely pathogenic	NM_000551.4(VHL):c.599G>T (p.Arg200Leu)	VHL	Chuvash polycythemia;Von Hippel-Lindau syndrome	263400;193300	238557;892	http://www.ncbi.nlm.nih.gov/clinvar/variation/840517	840517	001042529	827298	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	NA	10191609	10191609	3p25.3	T	C	Likely pathogenic	NM_000551.4(VHL):c.602T>C (p.Leu201Pro)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/1326283	1326283	001786527	1316701	no assertion criteria provided
rs13319174	chr3	9364401	10364401	NA	10191611	10191612	3p25.3	GAC	G	Likely pathogenic	NM_000551.4(VHL):c.607_608del (p.Gln203fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1751395	1751395	002359943	1811016	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs730882030	10191619	10191620	3p25.3	AGC	A	Pathogenic	NM_000551.4(VHL):c.614_615del (p.Arg205fs)	VHL	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/182971	182971	000161075	180124	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs869025668	10191648	10191648	3p25.3	G	T	Likely pathogenic	NM_000551.4(VHL):c.641G>T (p.Ter214Leu)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/223236	223236	000208844	224966	no assertion criteria provided
rs13319174	chr3	9364401	10364401	rs1559430011	10191649	10191649	3p25.3	A	G	Likely pathogenic	NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625269	625269	000767298	613601	criteria provided, multiple submitters, no conflicts
rs13319174	chr3	9364401	10364401	rs1559430011	10191649	10191649	3p25.3	A	T	Likely pathogenic	NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	VHL	Von Hippel-Lindau syndrome	193300	892	http://www.ncbi.nlm.nih.gov/clinvar/variation/625270	625270	000767299	613602	criteria provided, single submitter
rs13319174	chr3	9364401	10364401	rs34911341	10331519	10331519	3p25.3	C	T	risk factor	NM_016362.5(GHRL):c.152G>A (p.Arg51Gln)	GHRL	Metabolic syndrome, susceptibility to|Obesity	NA|NA	NA|71529	http://www.ncbi.nlm.nih.gov/clinvar/variation/5061	5061	000005364|000033194	20100	no assertion criteria provided
rs4591488	chr3	13318385	14318385	rs104893835	13860617	13860617	3p25.1	G	A	Pathogenic	NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys)	WNT7A	Schinzel phocomelia syndrome	276820	2879	http://www.ncbi.nlm.nih.gov/clinvar/variation/8060	8060	000008526	23099	no assertion criteria provided
rs4591488	chr3	13318385	14318385	rs397514643	13860827	13860827	3p25.1	G	A	Pathogenic	NM_004625.4(WNT7A):c.664C>T (p.Arg222Trp)	WNT7A	Schinzel phocomelia syndrome	276820	2879	http://www.ncbi.nlm.nih.gov/clinvar/variation/40130	40130	000033175	48633	no assertion criteria provided
rs4591488	chr3	13318385	14318385	rs387907231	13860881	13860881	3p25.1	C	T	Pathogenic/Likely pathogenic	NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser)	WNT7A	Schinzel phocomelia syndrome|not provided	276820|NA	2879|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/35537	35537	000029192|000493094	44208	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs104893832	13896274	13896274	3p25.1	C	T	Pathogenic	NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)	WNT7A	Fuhrmann syndrome	228930	2854	http://www.ncbi.nlm.nih.gov/clinvar/variation/8061	8061	000008527	23100	no assertion criteria provided
rs4591488	chr3	13318385	14318385	rs879255548	13896295	13896295	3p25.1	G	A	Pathogenic	NM_004625.4(WNT7A):c.304C>T (p.Arg102Trp)	WNT7A	Schinzel phocomelia syndrome	276820	2879	http://www.ncbi.nlm.nih.gov/clinvar/variation/253008	253008	000239449	247414	no assertion criteria provided
rs4591488	chr3	13318385	14318385	rs397514666	13916528	13916528	3p25.1	C	T	Pathogenic	NM_004625.4(WNT7A):c.214G>A (p.Glu72Lys)	WNT7A	Schinzel phocomelia syndrome	276820	2879	http://www.ncbi.nlm.nih.gov/clinvar/variation/40302	40302	000033263	48778	no assertion criteria provided
rs4591488	chr3	13318385	14318385	NA	14166684	14220439	3p25.1	NA	NA	Pathogenic	NC_000003.11:g.(?_14166684)_(14220439_?)del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1071711	1071711	001384233	1057031	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs397514044	14172412	14172412	3p25.1	G	A	Pathogenic	NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys)	TMEM43	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	261	http://www.ncbi.nlm.nih.gov/clinvar/variation/40870	40870	000033854	49356	no assertion criteria provided
rs4591488	chr3	13318385	14318385	NA	14174044	14174044	3p25.1	A	G	Likely pathogenic	NM_024334.3(TMEM43):c.393-2A>G	TMEM43	Arrhythmogenic right ventricular dysplasia 5	604400	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1701917	1701917	002466284	1694305	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs63750743	14183165	14183165	3p25.1	C	T	Pathogenic	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43	Arrhythmogenic right ventricular dysplasia 5|Arrhythmogenic right ventricular cardiomyopathy|not provided|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Primary dilated cardiomyopathy	604400|NA|NA|NA|NA|600884|NA|NA	NA|247|NA|217656|NA|167848|217569|217604	http://www.ncbi.nlm.nih.gov/clinvar/variation/734	734	000000770|000039375|000183944|000588763|000621202|001181315|001254741|001375655	15773	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14188489	14189526	3p25.1	GACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACACCTTTCCCAACAAGGTAAAAACAAGCGGCCTTAGAGACAGAAGACTGAGGTGTCCTAACACAAAGCTATCCCTGACTTGAGGCTGGGGCAGAATCTGGGCCAGGCCTTTCTGAGCTGCATCTCCAAGAAACTGACCCTGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCCGTAGCGACGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACATTTTCAGGAAAAATATTAAGATGGAAACTGTGAATGTAAAGACAGATATATACACCACTTTAGAATATAGCCTCTCCTTCACACCAAGTCTCACTTCCAAAAAATTGATCTGATTTACAAAGTGATATACTATACCTGAAAGCCACAAAAACAGATAACTTTTTAATCGTTACTGACTCCAAAATCTTTAGTGGGTGAGGTCTTCCAGAACCTGGACACAGGCAATTCAAGACAGAGGCAGGTGTGGGCAGCAGGGGCAGTAGACCCCAGAGCCCGGACCCAGGCTCCTCAGGGACAGTGATAGTCTGCGGGGTGGGCAGGAGCCTGCTGTATTCAGTGCTCGCTCCCTCGGGTGCCTGCCATGATGTCAGAGAGGGCTGGGAAGAGCCTGGGAGCACACGGAGGCGGCCTGGGGAAGGAAGAGGCCACCCGCTGAGTGTTGCTTCCCGCTTCTGCTGTCCCTCAGTCCTGCATATGCGCTTACCTCCTTCTCCTTCCTTTCAATGACTGCCTGCTCATTTTCCCAGGCAGTCAGGAGCACGTCTTTGAATTCCTCGCAGACGATGTATCCATCAGTCCTGTGGGGACACAACGCGATGTCAA	G	Pathogenic	NM_004628.5(XPC):c.2421-25_2604+301del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/830381	830381	001031020	818757	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14188780	14189511	3p25.1	NA	NA	Likely pathogenic	NC_000003.11:g.(?_14188780)_(14189511_?)del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2425190	2425190	003113559	1946257	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14188799	14188799	3p25.1	G	T	Likely pathogenic	NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)	XPC	Xeroderma pigmentosum	NA	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/1329017	1329017	001797908	1319703	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14188850	14188850	3p25.1	C	T	Pathogenic	NM_004628.5(XPC):c.2544G>A (p.Trp848Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075325	1075325	001388885	1059623	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14188880	14188880	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.2515-1G>A	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1967435	1967435	002754925	2024863	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14189448	14189448	3p25.1	C	T	Pathogenic	NM_004628.5(XPC):c.2474G>A (p.Trp825Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1968545	1968545	002711873	2028553	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14189448	14189449	3p25.1	C	CA	Pathogenic	NM_004628.5(XPC):c.2473dup (p.Trp825fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1455510	1455510	001958620	1464625	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14189461	14189471	3p25.1	GCACGTCTTTG	A	Pathogenic	NM_004628.5(XPC):c.2451_2461delinsT (p.Lys818fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1701453	1701453	002276116	1693844	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs778987248	14190060	14190060	3p25.1	A	G	Likely pathogenic	NM_004628.5(XPC):c.2420+2T>C	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/963704	963704	001237768	959683	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14190113	14190114	3p25.1	C	CA	Pathogenic	NM_004628.5(XPC):c.2368dup (p.Cys790fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1951736	1951736	002695108	2010590	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553604549	14190145	14190146	3p25.1	T	TA	Likely pathogenic	NM_004628.5(XPC):c.2336dup (p.His780fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/551745	551745	000666883	542997	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553604552	14190150	14190151	3p25.1	T	TG	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.2331dup (p.Asn778fs)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/555832	555832	000671731|002532110	542999	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1281090187	14190165	14190165	3p25.1	G	A	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/550662	550662	000665464|002530657	543002	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1553604559	14190195	14190195	3p25.1	AG	A	Pathogenic	NM_004628.5(XPC):c.2287del (p.Leu763fs)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/558141	558141	000674367|001855606	542803	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14190219	14190219	3p25.1	C	A	Pathogenic	NM_004628.5(XPC):c.2263G>T (p.Glu755Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1071266	1071266	001383686	1059624	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs786205206	14190220	14190220	3p25.1	CG	C	Pathogenic	NM_004628.5(XPC):c.2262del (p.Asn754fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/190208	190208	000170429	187974	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs754673606	14190232	14190232	3p25.1	C	G	Pathogenic	NM_004628.5(XPC):c.2251-1G>C	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided	278720|NA|NA	910|910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/190213	190213	000170434|000590804|001071689	187975	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1553604570	14190233	14190233	3p25.1	T	C	Likely pathogenic	NM_004628.5(XPC):c.2251-2A>G	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/558243	558243	000674481	543009	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14190313	14190313	3p25.1	C	T	Pathogenic	NM_004628.5(XPC):c.2250+1G>A	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/1342722	1342722	002280586	1334297	no assertion criteria provided
rs4591488	chr3	13318385	14318385	NA	14190338	14190338	3p25.1	GC	G	Pathogenic	NM_004628.5(XPC):c.2226del (p.Gln742fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2124748	2124748	003057315	2181342	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14190340	14190340	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.2224C>T (p.Gln742Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074604	1074604	001387961	1059625	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs770308917	14190346	14190346	3p25.1	C	A	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/557140	557140	000673240|000797367	543005	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1559369237	14190347	14190348	3p25.1	CCT	C	Pathogenic	NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	XPC	not provided|Xeroderma pigmentosum, group C	NA|278720	NA|910	http://www.ncbi.nlm.nih.gov/clinvar/variation/836224	836224	001037298|001809958	827590	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs754775337	14190412	14190412	3p25.1	G	A	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided	278720|NA|NA	910|910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/551486	551486	000666559|001280679|001532474	543019	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1574950526	14190435	14190438	3p25.1	AAAGC	A	Pathogenic	NM_004628.5(XPC):c.2126_2129del (p.Gly709fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/635329	635329	000790405	623133	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1695569595	14190437	14190437	3p25.1	AG	A	Pathogenic	NM_004628.5(XPC):c.2127del (p.Ser711fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/916577	916577	001172310	904908	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553604620	14190449	14190449	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.2116-1G>A	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/552436	552436	000667696	542956	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605023	14193849	14193849	3p25.1	C	A	Likely pathogenic	NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/557297	557297	000673420	542964	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs374117852	14193876	14193876	3p25.1	T	A	Pathogenic	NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided	278720|NA|NA	910|910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/496267	496267	000666668|000589424|001390105	487043	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14193899	14193900	3p25.1	CAG	C	Pathogenic	NM_004628.5(XPC):c.2050_2051del (p.Leu684fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1072652	1072652	001385417	1059626	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs869025275	14193917	14193917	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.2034-1G>A	XPC	Xeroderma pigmentosum group A	278700	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/221284	221284	000207299	222996	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs794729655	14197833	14197833	3p25.1	A	C	Pathogenic	NM_004628.5(XPC):c.2033+2T>G	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/257	257	000000281	15296	no assertion criteria provided
rs4591488	chr3	13318385	14318385	rs794729655	14197833	14197833	3p25.1	A	G	Likely pathogenic	NM_004628.5(XPC):c.2033+2T>C	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/844224	844224	001047021	851540	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs764480429	14197834	14197834	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.2033+1G>A	XPC	Xeroderma pigmentosum, group C|not provided|Xeroderma pigmentosum	278720|NA|NA	910|NA|910	http://www.ncbi.nlm.nih.gov/clinvar/variation/558179	558179	000674407|001225610|003235341	543032	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14197839	14197848	3p25.1	GAGTAGACCGC	G	Pathogenic	NM_004628.5(XPC):c.2020_2029del (p.Ala674fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1947826	1947826	002685594	2002813	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14197840	14197840	3p25.1	G	C	Pathogenic	NM_004628.5(XPC):c.2028C>G (p.Tyr676Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1455403	1455403	001970017	1464519	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14197858	14197858	3p25.1	A	T	Pathogenic	NM_004628.5(XPC):c.2010T>A (p.Cys670Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454617	1454617	001941958	1444956	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14197879	14197880	3p25.1	CTG	C	Pathogenic	NM_004628.5(XPC):c.1988_1989del (p.Thr663fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1380921	1380921	001895114	1499764	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs372048184	14197884	14197884	3p25.1	C	A	Pathogenic	NM_004628.5(XPC):c.1984G>T (p.Glu662Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/949528	949528	001221002	923065	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14197899	14197899	3p25.1	C	A	Likely pathogenic	NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/2431732	2431732	003225860	2405236	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605497	14197934	14197934	3p25.1	AG	A	Likely pathogenic	NM_004628.5(XPC):c.1934del (p.Pro645fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/555481	555481	000671307	542808	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14197935	14197935	3p25.1	G	C	Likely pathogenic	NM_004628.5(XPC):c.1933C>G (p.Pro645Ala)	XPC	Ovarian cancer	NA	213500	http://www.ncbi.nlm.nih.gov/clinvar/variation/2445342	2445342	003154752	2419068	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14197944	14197945	3p25.1	T	TATATA	Pathogenic	NM_004628.5(XPC):c.1919_1923dup (p.Lys642fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2078189	2078189	002988502	2138704	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14197970	14197970	3p25.1	AG	A	Pathogenic	NM_004628.5(XPC):c.1898del (p.Pro633fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459990	1459990	001951364	1481347	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs3731139	14197974	14197974	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.1894C>T (p.Gln632Ter)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/268083	268083	001172308	262034	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14197997	14197997	3p25.1	T	C	Likely pathogenic	NM_004628.5(XPC):c.1873-2A>G	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1068264	1068264	001379764	1055300	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14199509	14199509	3p25.1	A	G	Likely pathogenic	NM_004628.5(XPC):c.1872+2T>C	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322012	1322012	001780086	1312330	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1559374923	14199510	14199510	3p25.1	C	G	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.1872+1G>C	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/561144	561144	000680142|003314635	552070	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14199510	14199510	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.1872+1G>A	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1939311	1939311	002666746	2000768	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1695990121	14199544	14199545	3p25.1	T	TGG	Pathogenic	NM_004628.5(XPC):c.1837_1838dup (p.Phe614fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/958046	958046	001231135	943348	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14199629	14199629	3p25.1	T	C	Likely pathogenic	NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)	XPC	Xeroderma pigmentosum	NA	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/2581665	2581665	003332070	2749243	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs752030576	14199632	14199633	3p25.1	CCT	C	Likely pathogenic	NM_004628.5(XPC):c.1750_1751del (p.Arg584fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/555204	555204	000670977	543036	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs121965088	14199648	14199648	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided	278720|NA|NA	910|910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/259	259	000000283|001260295|001851508	15298	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1695999145	14199679	14199679	3p25.1	A	T	Pathogenic	NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter)	XPC	Xeroderma pigmentosum	NA	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/928577	928577	001192698	916903	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605655	14199697	14199697	3p25.1	TG	T	Likely pathogenic	NM_004628.5(XPC):c.1686del (p.Thr563fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/558522	558522	000674806	543014	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14199701	14199702	3p25.1	T	TA	Pathogenic	NM_004628.5(XPC):c.1681dup (p.Tyr561fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1413330	1413330	001925857	1461372	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs767569346	14199706	14199706	3p25.1	G	C	Pathogenic	NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter)	XPC	not provided|Xeroderma pigmentosum, group C	NA|278720	NA|910	http://www.ncbi.nlm.nih.gov/clinvar/variation/944047	944047	001214362|001828707	923066	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs767569346	14199706	14199706	3p25.1	G	T	Pathogenic	NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/190211	190211	000170432	187978	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1696002966	14199723	14199723	3p25.1	G	A	Likely pathogenic	NM_004628.5(XPC):c.1660C>T (p.Gln554Ter)	XPC	Xeroderma pigmentosum	NA	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/929102	929102	001194077	916904	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs754532049	14199739	14199740	3p25.1	GCA	G	Pathogenic	NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided|See cases	278720|NA|NA|NA	910|910|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/262	262	000000286|000781925|000791609|002251840	15301	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs746250060	14199819	14199819	3p25.1	T	A	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/549952	549952	000664538|002532032	543040	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14199856	14199856	3p25.1	CT	C	Pathogenic	NM_004628.5(XPC):c.1527del (p.Gly510fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1366319	1366319	001944623	1411661	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14199930	14199931	3p25.1	T	TG	Pathogenic	NM_004628.5(XPC):c.1452dup (p.Arg485fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074884	1074884	001388328	1059627	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1696021053	14199942	14199943	3p25.1	T	TGTGCCTCCTTTGTCCTCTGA	Pathogenic	NM_004628.5(XPC):c.1440_1441insTCAGAGGACAAAGGAGGCAC (p.Lys481fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/870822	870822	001090468	859227	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605761	14199961	14199962	3p25.1	C	CT	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.1421dup (p.Arg475fs)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/555393	555393	000671210|000819837	543016	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs754197041	14200002	14200002	3p25.1	C	A	Likely pathogenic	NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/552454	552454	000667716	543018	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605795	14200054	14200055	3p25.1	CAG	C	Likely pathogenic	NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/556820	556820	000672875	543049	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14200077	14200077	3p25.1	CT	C	Pathogenic	NM_004628.5(XPC):c.1306del (p.Ser436fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1438933	1438933	001934391	1448657	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14200080	14200081	3p25.1	CCA	C	Pathogenic	NM_004628.5(XPC):c.1302_1303del (p.Ser434fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1455531	1455531	001958626	1464646	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1448891857	14200088	14200093	3p25.1	CTCTTTA	C	Pathogenic	NM_004628.5(XPC):c.1290_1295del (p.Tyr430_Glu432delinsTer)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/940041	940041	001209544	931787	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605805	14200089	14200090	3p25.1	C	CA	Likely pathogenic	NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/556913	556913	000672979	543061	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs794729654	14200090	14200091	3p25.1	CTT	C	Pathogenic	NM_004628.5(XPC):c.1292_1293del (p.Lys431fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/256	256	000000280	15295	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605813	14200090	14200094	3p25.1	CTTTAT	C	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/558241	558241	000674478|001381047	542809	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14200117	14200117	3p25.1	GC	G	Pathogenic	NM_004628.5(XPC):c.1266del (p.Arg423fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1073314	1073314	001386282	1059628	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs757958943	14200140	14200140	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided	278720|NA|NA	910|910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/438623	438623	000505517|001175486|001090469	432247	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14200201	14200201	3p25.1	TG	T	Pathogenic	NM_004628.5(XPC):c.1182del (p.Ser394fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1456131	1456131	001970203	1458072	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605871	14200239	14200240	3p25.1	T	TG	Likely pathogenic	NM_004628.5(XPC):c.1143dup (p.Lys382fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/550157	550157	000664823	543020	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1450238352	14200279	14200280	3p25.1	CTT	C	Pathogenic	NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided	278720|NA|NA	910|910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/267279	267279	000671910|001194078|001390106	262035	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14200359	14200359	3p25.1	TC	T	Pathogenic	NM_004628.5(XPC):c.1024del (p.Asp342fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1675906	1675906	002214275	1667289	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1574963068	14200382	14200382	3p25.1	AG	A	Pathogenic	NM_004628.5(XPC):c.1001del (p.Pro334fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/644990	644990	000799000	630981	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14200393	14200393	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.991-1G>A	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1522350	1522350	002028102	1369294	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553605894	14200394	14200394	3p25.1	T	C	Likely pathogenic	NM_004628.5(XPC):c.991-2A>G	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/555333	555333	000671134	543062	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs867461743	14201273	14201273	3p25.1	G	A	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/551337	551337	000666370|001241797	543064	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1553605973	14201315	14201316	3p25.1	G	GA	Likely pathogenic	NM_004628.5(XPC):c.915dup (p.Leu306fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/554582	554582	000670246	542983	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14206293	14209904	3p25.1	NA	NA	Pathogenic	NC_000003.11:g.(?_14206293)_(14209904_?)del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2425189	2425189	003113558	1946256	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14206303	14220439	3p25.1	NA	NA	Pathogenic	NC_000003.11:g.(?_14206303)_(14220439_?)del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1458454	1458454	001949510	1468166	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14206312	14206312	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.900+1G>A	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1517187	1517187	002027164	1515347	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14206330	14206331	3p25.1	C	CATCTCGAG	Pathogenic	NM_004628.5(XPC):c.875_882dup (p.Asp295fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1076552	1076552	001390499	1059629	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs373519125	14206336	14206336	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.877C>T (p.Arg293Ter)	XPC	Xeroderma pigmentosum, group C|not provided|Xeroderma pigmentosum	278720|NA|NA	910|NA|910	http://www.ncbi.nlm.nih.gov/clinvar/variation/554485	554485	000670127|002531245|003403557	543024	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14206387	14206387	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.826C>T (p.Gln276Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1453010	1453010	002037808	1432150	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14206409	14206410	3p25.1	A	AT	Pathogenic	NM_004628.5(XPC):c.803dup (p.Asn268fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1354436	1354436	001887804	1341554	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14206434	14206434	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.780-1G>A	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2096848	2096848	003016391	2157337	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1696314718	14206435	14206435	3p25.1	T	A	Likely pathogenic	NM_004628.5(XPC):c.780-2A>T	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1028796	1028796	001376873	1016183	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14206435	14206435	3p25.1	T	G	Likely pathogenic	NM_004628.5(XPC):c.780-2A>C	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1500569	1500569	002015752	1501492	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs975121308	14206927	14206927	3p25.1	C	A	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.779+1G>T	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/554889	554889	000670600|000806741	543065	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs975121308	14206927	14206927	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.779+1G>A	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/555583	555583	000671425	542812	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs764321665	14206968	14206968	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.739C>T (p.Arg247Ter)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/556301	556301	000672294|001048861	543026	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1553606767	14207016	14207017	3p25.1	C	CA	Pathogenic	NM_004628.5(XPC):c.690dup (p.Ala231fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/452115	452115	000521924	443369	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1696343406	14207037	14207038	3p25.1	CAG	C	Pathogenic	NM_004628.5(XPC):c.669_670del (p.Ile223fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/268082	268082	001172307	262036	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs745679643	14207049	14207049	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.658C>T (p.Arg220Ter)	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided	278720|NA|NA	910|910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/550020	550020	000664637|001201195|001385310	543068	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs201940931	14207087	14207087	3p25.1	T	C	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.622-2A>G	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/550100	550100	000664737|001529516	542987	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs201940931	14207087	14207087	3p25.1	T	G	Pathogenic	NM_004628.5(XPC):c.622-2A>C	XPC	Xeroderma pigmentosum, group C|Xeroderma pigmentosum|not provided	278720|NA|NA	910|910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/190209	190209	000170430|001174681|001205980	187980	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1553606979	14208671	14208672	3p25.1	TTG	T	Likely pathogenic	NM_004628.5(XPC):c.618_619del (p.His206fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/558641	558641	000674941	542813	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14208720	14208720	3p25.1	GA	G	Pathogenic	NM_004628.5(XPC):c.570del (p.Arg191fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1458152	1458152	001956223	1471716	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14208736	14208737	3p25.1	T	TC	Pathogenic	NM_004628.5(XPC):c.553dup (p.Glu185fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2007576	2007576	002842411	2073237	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1326646197	14208754	14208754	3p25.1	C	G	Likely pathogenic	NM_004628.5(XPC):c.537-1G>C	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/557580	557580	000673738|001855602	543028	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14209763	14209764	3p25.1	TTC	T	Pathogenic	NM_004628.5(XPC):c.529_530del (p.Glu177fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451431	1451431	002007214	1425833	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14209767	14209768	3p25.1	CTT	C	Pathogenic	NM_004628.5(XPC):c.525_526del (p.Glu177fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2139390	2139390	003052575	1871677	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1696466639	14209767	14209768	3p25.1	T	TTG	Pathogenic	NM_004628.5(XPC):c.524_525dup (p.Arg176fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/916575	916575	001172306	904909	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553607144	14209777	14209778	3p25.1	C	CT	Likely pathogenic	NM_004628.5(XPC):c.515dup (p.Ala173fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/553705	553705	000669213	543030	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1574972784	14209822	14209823	3p25.1	GAA	G	Likely pathogenic	NM_004628.5(XPC):c.470_471del (p.Leu157fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/804433	804433	000991414	792734	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs755825264	14209830	14209830	3p25.1	G	A	Pathogenic	NM_004628.5(XPC):c.463C>T (p.Arg155Ter)	XPC	Xeroderma pigmentosum|not provided|Xeroderma pigmentosum, group C	NA|NA|278720	910|NA|910	http://www.ncbi.nlm.nih.gov/clinvar/variation/496268	496268	000587243|000821094|002497239	486987	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs1402162002	14209847	14209848	3p25.1	TTC	T	Pathogenic	NM_004628.5(XPC):c.445_446del (p.Glu149fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/557065	557065	000673154	543035	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1330667099	14209870	14209873	3p25.1	GCTCA	G	Pathogenic	NM_004628.5(XPC):c.420_423del (p.Glu141fs)	XPC	Xeroderma pigmentosum, group C|not provided|Xeroderma pigmentosum	278720|NA|NA	910|NA|910	http://www.ncbi.nlm.nih.gov/clinvar/variation/550638	550638	000665434|001049994|001194079	542815	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	rs794729656	14209889	14209889	3p25.1	A	T	Pathogenic	NM_004628.5(XPC):c.413-9T>A	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/260	260	000000284	15299	no assertion criteria provided
rs4591488	chr3	13318385	14318385	rs794729657	14209904	14209904	3p25.1	T	C	Pathogenic	NM_004628.5(XPC):c.413-24A>G	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/261	261	000000285|002292452	15300	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14211928	14220439	3p25.1	NA	NA	Pathogenic	NC_000003.12:g.(?_14170428)_(14178939_?)del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/831828	831828	001032357	819331	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1208223013	14211940	14211941	3p25.1	T	TC	Likely pathogenic	NM_004628.5(XPC):c.409dup (p.Glu137fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/557268	557268	000673386	543000	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1696563531	14211952	14211955	3p25.1	CCAAT	C	Pathogenic	NM_004628.5(XPC):c.395_398del (p.Asp132fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/916576	916576	001172309	904910	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553607419	14211982	14211982	3p25.1	AT	A	Likely pathogenic	NM_004628.5(XPC):c.368del (p.Asn123fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/554298	554298	000669908	543038	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1228981894	14212007	14212008	3p25.1	CCT	C	Pathogenic	NM_004628.5(XPC):c.342_343del (p.Ala116fs)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/553148	553148	000668532|001532475	543077	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14212050	14212061	3p25.1	CCCTGTGTAAAGA	C	Likely pathogenic	NM_004628.5(XPC):c.300-11_300del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1491446	1491446	001986528	1508681	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14214357	14220439	3p25.1	NA	NA	Pathogenic	NC_000003.11:g.(?_14214357)_(14220439_?)del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2425188	2425188	003113557	1946255	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14214365	14214365	3p25.1	A	C	Pathogenic	NM_004628.5(XPC):c.299+2T>G	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1319091	1319091	003238416	1309344	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553607744	14214366	14214366	3p25.1	C	T	Likely pathogenic	NM_004628.5(XPC):c.299+1G>A	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/551510	551510	000666590|000805953	543052	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14214446	14214446	3p25.1	T	A	Pathogenic	NM_004628.5(XPC):c.220A>T (p.Lys74Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1453188	1453188	002037853	1428474	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14214447	14214448	3p25.1	C	CA	Pathogenic	NM_004628.5(XPC):c.218_219insT (p.Lys73fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/2581102	2581102	003330361	2748686	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553607773	14214519	14214519	3p25.1	TG	T	Likely pathogenic	NM_004628.5(XPC):c.147del (p.Val51fs)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/554251	554251	000669847	543003	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1260189637	14214538	14214538	3p25.1	TG	T	Pathogenic	NM_004628.5(XPC):c.128del (p.Pro43fs)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/551235	551235	000666236|001090470	543087	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14214563	14214563	3p25.1	C	A	Likely pathogenic	NM_004628.5(XPC):c.104-1G>T	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1493973	1493973	001986880	1459741	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14214563	14214563	3p25.1	TC	T	Likely pathogenic	NM_004628.5(XPC):c.104-1del	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2116754	2116754	003027397	2175837	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1696679400	14214564	14214564	3p25.1	T	C	Likely pathogenic	NM_004628.5(XPC):c.104-2A>G	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/959809	959809	001233225	959684	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553608616	14219964	14219964	3p25.1	A	C	Likely pathogenic	NM_004628.5(XPC):c.103+2T>G	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/554399	554399	000670023	543055	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1423398589	14219965	14219965	3p25.1	C	T	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.103+1G>A	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/553460	553460	000668920|001868226	543007	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14219969	14219969	3p25.1	C	A	Pathogenic	NM_004628.5(XPC):c.100G>T (p.Glu34Ter)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1994460	1994460	002791156	2056260	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs1553608637	14220014	14220014	3p25.1	G	A	Pathogenic/Likely pathogenic	NM_004628.5(XPC):c.55C>T (p.Gln19Ter)	XPC	Xeroderma pigmentosum, group C|not provided	278720|NA	910|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/551359	551359	000666399|001038115	543069	criteria provided, multiple submitters, no conflicts
rs4591488	chr3	13318385	14318385	NA	14220025	14220026	3p25.1	T	TCG	Pathogenic	NM_004628.5(XPC):c.42_43dup (p.Glu15fs)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1403159	1403159	001925284	1392771	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14220067	14220067	3p25.1	A	C	Likely pathogenic	NM_004628.5(XPC):c.2T>G (p.Met1Arg)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1066146	1066146	001377067	1055301	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs760324503	14220067	14220067	3p25.1	A	G	Likely pathogenic	NM_004628.5(XPC):c.2T>C (p.Met1Thr)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/967922	967922	001242944	953347	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	NA	14220067	14220067	3p25.1	A	T	Likely pathogenic	NM_004628.5(XPC):c.2T>A (p.Met1Lys)	XPC	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1999807	1999807	002819874	2054300	criteria provided, single submitter
rs4591488	chr3	13318385	14318385	rs763678756	14220068	14220068	3p25.1	T	A	Likely pathogenic	NM_004628.5(XPC):c.1A>T (p.Met1Leu)	XPC	Xeroderma pigmentosum, group C	278720	910	http://www.ncbi.nlm.nih.gov/clinvar/variation/555303	555303	000671101	543071	criteria provided, single submitter
rs556778	chr6	72262390	73262390	nsv533140	72555205	72807895	6q13	NA	NA	Pathogenic	GRCh38/hg38 6q13(chr6:71845502-72098192)x1	LOC129996707;LOC129996708;RIMS1	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/146598	146598	000135861	156349	no assertion criteria provided
rs556778	chr6	72262390	73262390	NA	72596727	74363609	6q13	NA	NA	Pathogenic	NC_000006.11:g.(?_72596727)_(74363609_?)del	SLC17A5	Salla disease	604369	309334	http://www.ncbi.nlm.nih.gov/clinvar/variation/1071718	1071718	001384240	1057240	criteria provided, single submitter
rs556778	chr6	72262390	73262390	NA	72922926	72922926	6q13	G	A	Likely pathogenic	NM_014989.7(RIMS1):c.1679-20550G>A	RIMS1	Autism spectrum disorder	NA	106	http://www.ncbi.nlm.nih.gov/clinvar/variation/2430091	2430091	003128056	2403594	criteria provided, single submitter
rs556778	chr6	72262390	73262390	rs1590681805	72962537	72962537	6q13	T	C	Likely pathogenic	NM_014989.7(RIMS1):c.2770+2T>C	RIMS1	Cone-rod dystrophy 7	603649	1872	http://www.ncbi.nlm.nih.gov/clinvar/variation/828152	828152	001028030	816506	no assertion criteria provided
rs556778	chr6	72262390	73262390	rs1057519205	72974756	72974756	6q13	G	A	Pathogenic/Likely pathogenic	NM_014989.7(RIMS1):c.3194+1G>A	RIMS1	not provided|Ornithine aminotransferase deficiency	NA|258870	NA|414	http://www.ncbi.nlm.nih.gov/clinvar/variation/374696	374696	000415728|001199743	361582	criteria provided, multiple submitters, no conflicts
rs11152966	chr6	106089885	107089885	rs1131692265	106727648	106727648	6q21	T	A	Pathogenic	NM_004849.4(ATG5):c.366A>T (p.Glu122Asp)	ATG5	Spinocerebellar ataxia, autosomal recessive 25	617584	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/430932	430932	000496077	424475	no assertion criteria provided
rs11152966	chr6	106089885	107089885	rs764393326	107019900	107019900	6q21	G	A	Pathogenic	NM_032730.5(RTN4IP1):c.1162C>T (p.Arg388Ter)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1034720	1034720	001337485	1026895	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107031297	107031297	6q21	T	C	Likely pathogenic	NM_032730.5(RTN4IP1):c.991-2A>G	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1486837	1486837	002003896	1406694	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107035571	107035572	6q21	C	CTACAG	Pathogenic	NM_032730.5(RTN4IP1):c.968_972dup (p.Gly325delinsLeuTer)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2014205	2014205	002861376	2064418	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107035582	107035582	6q21	C	T	Pathogenic	NM_032730.5(RTN4IP1):c.962G>A (p.Gly321Glu)	RTN4IP1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	616732	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1686988	1686988	002248448	1679102	no assertion criteria provided
rs11152966	chr6	106089885	107089885	NA	107035586	107035587	6q21	T	TC	Pathogenic/Likely pathogenic	NM_032730.5(RTN4IP1):c.957dup (p.Thr320fs)	RTN4IP1	not provided|RTN4IP1-related condition	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2070800	2070800	002959186|003409999	2130024	criteria provided, multiple submitters, no conflicts
rs11152966	chr6	106089885	107089885	NA	107035666	107035666	6q21	G	C	Pathogenic	NM_032730.5(RTN4IP1):c.878C>G (p.Ser293Ter)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454192	1454192	001939429	1366798	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107040019	107040195	6q21	NA	NA	Pathogenic	NC_000006.11:g.(?_107040019)_(107040195_?)del	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427062	2427062	003122895	1950599	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	rs772984484	107040038	107040038	6q21	C	T	Pathogenic	NM_032730.5(RTN4IP1):c.806+1G>A	RTN4IP1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	616732	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/997855	997855	001293459	985576	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107040040	107040041	6q21	G	GT	Pathogenic	NM_032730.5(RTN4IP1):c.804dup (p.Pro269fs)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451258	1451258	001993178	1429512	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107040133	107040133	6q21	G	A	Pathogenic	NM_032730.5(RTN4IP1):c.712C>T (p.Gln238Ter)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1968090	1968090	002727254	2031965	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107040166	107040166	6q21	GC	G	Pathogenic	NM_032730.5(RTN4IP1):c.679del (p.Ala227fs)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2002548	2002548	002820489	2061772	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107050772	107050772	6q21	C	T	Likely pathogenic	NM_032730.5(RTN4IP1):c.646G>A (p.Gly216Arg)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1489361	1489361	002001483	1494967	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107067057	107067221	6q21	NA	NA	Pathogenic	NC_000006.11:g.(?_107067057)_(107067221_?)del	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427061	2427061	003122894	1950598	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107067076	107067076	6q21	C	G	Likely pathogenic	NM_032730.5(RTN4IP1):c.620+1G>C	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067145	1067145	001378329	1055552	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107067077	107069368	6q21	NA	NA	Likely pathogenic	NC_000006.11:g.(?_107067077)_(107069368_?)dup	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067963	1067963	001379368	1054384	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	rs200457692	107067096	107067096	6q21	T	A	Pathogenic	NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter)	RTN4IP1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures|not provided	616732|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/218933	218933	000203281|001388782	215759	criteria provided, multiple submitters, no conflicts
rs11152966	chr6	106089885	107089885	rs1776423674	107067110	107067110	6q21	AC	A	Pathogenic	NM_032730.5(RTN4IP1):c.587del (p.Gly196fs)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/844298	844298	001047113	831352	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107067197	107067197	6q21	G	A	Pathogenic	NM_032730.5(RTN4IP1):c.500C>T (p.Ser167Phe)	RTN4IP1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	616732	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1686986	1686986	002248446	1679100	no assertion criteria provided
rs11152966	chr6	106089885	107089885	NA	107069280	107070864	6q21	NA	NA	Pathogenic	NC_000006.11:g.(?_107069280)_(107070864_?)del	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427063	2427063	003122896	1950600	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107069363	107069363	6q21	C	T	Pathogenic	NM_032730.5(RTN4IP1):c.432G>A (p.Trp144Ter)	RTN4IP1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	616732	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1686987	1686987	002248447	1679101	no assertion criteria provided
rs11152966	chr6	106089885	107089885	NA	107069365	107069369	6q21	AGACC	GGCCA	Likely pathogenic	NM_032730.5(RTN4IP1):c.427-1_430delinsTGGCC	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1701511	1701511	002276156	1693901	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107070692	107070692	6q21	C	A	Likely pathogenic	NM_032730.5(RTN4IP1):c.426+1G>T	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1503268	1503268	002045392	1400986	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107070763	107070764	6q21	CAG	C	Pathogenic	NM_032730.5(RTN4IP1):c.355_356del (p.Leu119fs)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1401751	1401751	001913093	1457410	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107070779	107070779	6q21	C	A	Pathogenic	NM_032730.5(RTN4IP1):c.340G>T (p.Glu114Ter)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1071096	1071096	001383470	1060547	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	rs1582392486	107070806	107070806	6q21	G	A	Likely pathogenic	NM_032730.5(RTN4IP1):c.313C>T (p.Pro105Ser)	RTN4IP1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	616732	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/807479	807479	000995626	798566	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	rs372054380	107070811	107070811	6q21	C	T	Pathogenic	NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His)	RTN4IP1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures|not provided	616732|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/218932	218932	000203278|001853273	215758	criteria provided, multiple submitters, no conflicts
rs11152966	chr6	106089885	107089885	rs751989550	107076759	107076759	6q21	C	T	Pathogenic	NM_032730.5(RTN4IP1):c.138G>A (p.Trp46Ter)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/943679	943679	001213920	933110	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	rs763048901	107076838	107076838	6q21	C	T	Pathogenic	NM_032730.5(RTN4IP1):c.59G>A (p.Trp20Ter)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1405046	1405046	001927892	1020145	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	rs1776734650	107076845	107076845	6q21	CA	C	Pathogenic	NM_032730.5(RTN4IP1):c.52del (p.Cys18fs)	RTN4IP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/954709	954709	001227219	944831	criteria provided, single submitter
rs11152966	chr6	106089885	107089885	NA	107076895	107076895	6q21	A	G	Pathogenic	NM_032730.5(RTN4IP1):c.2T>C (p.Met1Thr)	RTN4IP1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	616732	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1213927	1213927	001591869	1203920	criteria provided, single submitter
rs10251565	chr7	23900399	24900399	NA	20954043	114556605	7p15.3-q31.1	NA	NA	Pathogenic	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	FOXP2	Childhood apraxia of speech	602081	209908	http://www.ncbi.nlm.nih.gov/clinvar/variation/242972	242972	000234948	244060	no assertion criteria provided
rs10251565	chr7	23900399	24900399	NA	24742318	24747933	7p15.3	NA	NA	Likely pathogenic	NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del	GSDME	Rare genetic deafness	NA	96210	http://www.ncbi.nlm.nih.gov/clinvar/variation/228250	228250	000221030	229531	criteria provided, single submitter
rs10251565	chr7	23900399	24900399	rs1562687295	24745799	24745799	7p15.3	T	C	Pathogenic	NM_004403.3(GSDME):c.1183+4A>G	GSDME	Autosomal dominant nonsyndromic hearing loss 5	600994	90635	http://www.ncbi.nlm.nih.gov/clinvar/variation/2093	2093	000002174	17132	no assertion criteria provided
rs10251565	chr7	23900399	24900399	rs1554322596	24745802	24745802	7p15.3	C	T	Likely pathogenic	NM_001127453.2(GSDME):c.1183+1G>A	GSDME	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/493450	493450	000585207	486413	criteria provided, single submitter
rs10251565	chr7	23900399	24900399	NA	24745872	24745873	7p15.3	G	GACACCCACCCTGTAAGCTGCACCCC	Pathogenic	NM_001127453.2(GSDME):c.1089_1113dup (p.Pro372fs)	GSDME	Autosomal dominant nonsyndromic hearing loss 5	600994	90635	http://www.ncbi.nlm.nih.gov/clinvar/variation/2498199	2498199	003221318	2473277	no assertion criteria provided
rs10251565	chr7	23900399	24900399	NA	24745884	24745884	7p15.3	G	C	Pathogenic	NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu)	GSDME	Autosomal dominant nonsyndromic hearing loss 5	600994	90635	http://www.ncbi.nlm.nih.gov/clinvar/variation/1298356	1298356	001726686	1288218	no assertion criteria provided
rs10251565	chr7	23900399	24900399	rs1562687726	24746001	24746001	7p15.3	G	C	Pathogenic	NM_004403.3(GSDME):c.991-6C>G	GSDME	Autosomal dominant nonsyndromic hearing loss 5	600994	90635	http://www.ncbi.nlm.nih.gov/clinvar/variation/2092	2092	000002173	17131	no assertion criteria provided
rs10251565	chr7	23900399	24900399	rs727505273	24746008	24746010	7p15.3	GGAA	G	Pathogenic	NM_001127453.2(GSDME):c.991-21TTC[2]	GSDME	Rare genetic deafness|not provided|Autosomal dominant nonsyndromic hearing loss 5	NA|NA|600994	96210|NA|90635	http://www.ncbi.nlm.nih.gov/clinvar/variation/179997	179997	000156800|001092560|001808425	174221	criteria provided, multiple submitters, no conflicts
rs10251565	chr7	23900399	24900399	rs1790597003	24784374	24784374	7p15.3	C	T	Likely pathogenic	NM_001127453.2(GSDME):c.212-1G>A	GSDME	Autosomal dominant nonsyndromic hearing loss 5	600994	90635	http://www.ncbi.nlm.nih.gov/clinvar/variation/1030791	1030791	001332442	1016884	criteria provided, multiple submitters, no conflicts
rs6973488	chr7	37175112	38175112	NA	20954043	114556605	7p15.3-q31.1	NA	NA	Pathogenic	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	FOXP2	Childhood apraxia of speech	602081	209908	http://www.ncbi.nlm.nih.gov/clinvar/variation/242972	242972	000234948	244060	no assertion criteria provided
rs6973488	chr7	37175112	38175112	rs755007671	37951818	37951818	7p14.1	G	A	Pathogenic	NM_003014.3(SFRP4):c.694C>T	SFRP4	Pyle metaphyseal dysplasia	265900	3005	http://www.ncbi.nlm.nih.gov/clinvar/variation/242996	242996	000234991	244076	no assertion criteria provided
rs6973488	chr7	37175112	38175112	NA	37951895	37951895	7p14.1	CA	C	Pathogenic	NM_003014.4(SFRP4):c.617del (p.Val206fs)	SFRP4	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1424941	1424941	001924156	1353448	criteria provided, single submitter
rs6973488	chr7	37175112	38175112	rs879255603	37954001	37954002	7p14.1	T	TC	Pathogenic	NM_003014.4(SFRP4):c.499dup (p.Asp167fs)	SFRP4	Pyle metaphyseal dysplasia	265900	3005	http://www.ncbi.nlm.nih.gov/clinvar/variation/242995	242995	000234979	244075	no assertion criteria provided
rs6973488	chr7	37175112	38175112	rs879253778	37954014	37954020	7p14.1	TCCTGTAC	T	Pathogenic	NM_003014.4(SFRP4):c.481_487del (p.Val161fs)	SFRP4	Pyle metaphyseal dysplasia	265900	3005	http://www.ncbi.nlm.nih.gov/clinvar/variation/242997	242997	000234974	244077	criteria provided, single submitter
rs6973488	chr7	37175112	38175112	rs1344808304	37955767	37955767	7p14.1	A	T	Likely pathogenic	NM_003014.4(SFRP4):c.373T>A (p.Cys125Ser)	SFRP4	Pyle metaphyseal dysplasia	265900	3005	http://www.ncbi.nlm.nih.gov/clinvar/variation/989455	989455	001271113	977391	criteria provided, single submitter
rs6973488	chr7	37175112	38175112	NA	37955956	37955956	7p14.1	C	A	Pathogenic	NM_003014.4(SFRP4):c.184G>T (p.Glu62Ter)	SFRP4	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1983442	1983442	002770275	2046501	criteria provided, single submitter
rs6973488	chr7	37175112	38175112	rs758308395	37955979	37955979	7p14.1	G	T	Likely pathogenic	NM_003014.4(SFRP4):c.161C>A (p.Ala54Asp)	SFRP4	Pyle metaphyseal dysplasia	265900	3005	http://www.ncbi.nlm.nih.gov/clinvar/variation/989454	989454	001271112	977392	criteria provided, single submitter
rs6973488	chr7	37175112	38175112	NA	37956067	37956067	7p14.1	C	A	Pathogenic	NM_003014.4(SFRP4):c.73G>T (p.Glu25Ter)	SFRP4	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1367322	1367322	001947236	1405042	criteria provided, single submitter
rs38567	chr7	81397246	82397246	NA	20954043	114556605	7p15.3-q31.1	NA	NA	Pathogenic	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	FOXP2	Childhood apraxia of speech	602081	209908	http://www.ncbi.nlm.nih.gov/clinvar/variation/242972	242972	000234948	244060	no assertion criteria provided
rs38567	chr7	81397246	82397246	NA	80276057	83739925	7q21.11	NA	NA	Pathogenic	NC_000007.13:g.(?_80276057)_(83739925_?)del	PCLO	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454415	1454415	001960659	1444758	criteria provided, single submitter
rs38567	chr7	81397246	82397246	nsv3109758	80348675	83666606	7q21.11	NA	NA	Likely pathogenic	GRCh37/hg19 7q21.11(chr7:80348675-83666606)x1	CACNA2D1;HGF;PCLO;SEMA3A;SEMA3C;SEMA3E	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/443616	443616	000511923	437278	no assertion criteria provided
rs38567	chr7	81397246	82397246	NA	81399204	81399204	7q21.11	A	C	Likely pathogenic	NM_000601.6(HGF):c.84T>G (p.Tyr28Ter)	HGF	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2507239	2507239	003239130	2672229	criteria provided, single submitter
rs38567	chr7	81397246	82397246	NA	81689801	81689802	7q21.11	T	TGTTC	Pathogenic	NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs)	CACNA2D1	Developmental and epileptic encephalopathy 110	620149	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1802179	1802179	002464992	1859363	no assertion criteria provided
rs38567	chr7	81397246	82397246	NA	81714117	81714117	7q21.11	C	T	Pathogenic	NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp)	CACNA2D1	Developmental and epileptic encephalopathy 110	620149	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1802181	1802181	002464994	1859365	no assertion criteria provided
rs38567	chr7	81397246	82397246	NA	81880897	82156396	Xp11.1-q11.1	NA	NA	Likely pathogenic	t(X;7)(p10;q21.11)	CACNA2D1	Seizure;Intellectual disability	NA;NA	NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/254282	254282	000240913	248815	no assertion criteria provided
rs38567	chr7	81397246	82397246	NA	82072752	82072753	7q21.11	G	GGCCAGCAGGCA	Pathogenic	NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs)	CACNA2D1	Developmental and epileptic encephalopathy 110	620149	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1802180	1802180	002464993	1859364	no assertion criteria provided
rs38567	chr7	81397246	82397246	NA	82390062	82390062	7q21.11	TG	T	Pathogenic	NM_033026.6(PCLO):c.15181del (p.Gln5061fs)	PCLO	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2018063	2018063	002861812	2075980	criteria provided, single submitter
rs2272221	chr7	83143687	84143687	NA	20954043	114556605	7p15.3-q31.1	NA	NA	Pathogenic	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	FOXP2	Childhood apraxia of speech	602081	209908	http://www.ncbi.nlm.nih.gov/clinvar/variation/242972	242972	000234948	244060	no assertion criteria provided
rs2272221	chr7	83143687	84143687	NA	80276057	83739925	7q21.11	NA	NA	Pathogenic	NC_000007.13:g.(?_80276057)_(83739925_?)del	PCLO	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454415	1454415	001960659	1444758	criteria provided, single submitter
rs2272221	chr7	83143687	84143687	nsv3109758	80348675	83666606	7q21.11	NA	NA	Likely pathogenic	GRCh37/hg19 7q21.11(chr7:80348675-83666606)x1	CACNA2D1;HGF;PCLO;SEMA3A;SEMA3C;SEMA3E	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/443616	443616	000511923	437278	no assertion criteria provided
rs2272221	chr7	83143687	84143687	NA	83592531	83592531	7q21.11	C	T	risk factor	NM_006080.3(SEMA3A):c.1850G>A (p.Arg617Gln)	SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia	614897	478	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325880	1325880	001785418	1316140	no assertion criteria provided
rs2272221	chr7	83143687	84143687	NA	83610663	83610676	7q21.11	AACATGCAGAACCAT	A	risk factor	NM_006080.3(SEMA3A):c.1613_1626del (p.Asp538fs)	SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia	614897	478	http://www.ncbi.nlm.nih.gov/clinvar/variation/39717	39717	000032922	48316	no assertion criteria provided
rs2272221	chr7	83143687	84143687	rs1064793265	83610758	83610758	7q21.11	G	A	Likely pathogenic	NM_006080.3(SEMA3A):c.1531C>T (p.Gln511Ter)	SEMA3A	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/418484	418484	000479871	407269	criteria provided, single submitter
rs2272221	chr7	83143687	84143687	NA	83631351	83631351	7q21.11	C	T	risk factor	NM_006080.3(SEMA3A):c.1372G>A (p.Val458Ile)	SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia	614897	478	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325879	1325879	001785417	1316139	no assertion criteria provided
rs2272221	chr7	83143687	84143687	NA	83664877	83740076	7q21.11	NA	NA	Pathogenic	GRCh37/hg19 7q21.11(chr7:83664877-83740076)	SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia	614897	478	http://www.ncbi.nlm.nih.gov/clinvar/variation/625633	625633	000767641	613937	criteria provided, single submitter
rs2272221	chr7	83143687	84143687	NA	83675717	83675717	7q21.11	C	T	risk factor	NM_006080.3(SEMA3A):c.590G>A (p.Arg197Gln)	SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia	614897	478	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325878	1325878	001785416	1316138	no assertion criteria provided
rs1057016	chr8	17387083	18387083	rs137853148	17446988	17446988	8p22	C	T	Pathogenic	NM_001372073.1(PDGFRL):c.67C>T (p.His23Tyr)	PDGFRL	Carcinoma of colon	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/5468	5468	000005802	20507	no assertion criteria provided
rs1057016	chr8	17387083	18387083	NA	17909063	17964559	8p22	NA	NA	Pathogenic	NC_000008.11:g.(?_18051554)_(18107050_?)del	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	159950	2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/35545	35545	000029200	44216	no assertion criteria provided
rs1057016	chr8	17387083	18387083	rs746513660	17915056	17915056	8p22	C	T	Likely pathogenic	NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812491	812491	001003321	800713	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17915074	17915074	8p22	C	T	Likely pathogenic	NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	159950	2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/1709286	1709286	002289101	1707640	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs763842677	17916343	17916343	8p22	C	A	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.1098+1G>T	ASAH1	Farber lipogranulomatosis|not provided	228000|NA	333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/812507	812507	001003337|002549208	800747	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	rs1588973202	17916346	17916346	8p22	T	G	Likely pathogenic	NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812479	812479	001003308	800714	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588973237	17916357	17916357	8p22	G	C	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg)	ASAH1	Farber lipogranulomatosis|not provided	228000|NA	333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/812498	812498	001003328|001860537	800715	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	rs1588973247	17916358	17916358	8p22	G	T	Likely pathogenic	NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812488	812488	001003318	800716	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17916378	17916382	8p22	ATACAT	A	Likely pathogenic	NM_177924.5(ASAH1):c.1060_1064del (p.Thr353_Met354insTer)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2435182	2435182	003130307	2413499	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17916393	17916394	8p22	TGA	T	Pathogenic	NM_177924.5(ASAH1):c.1048_1049del (p.Ser350fs)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1455993	1455993	001950923	1380253	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs543697946	17916894	17916894	8p22	G	A	Likely pathogenic	NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)	ASAH1	Farber lipogranulomatosis|not provided	228000|NA	333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/812490	812490	001003320|001860534	800718	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	rs1588974267	17916932	17916932	8p22	T	C	Likely pathogenic	NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser)	ASAH1	Farber lipogranulomatosis|not provided	228000|NA	333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/812494	812494	001003324|001784545	800720	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	rs137853596	17916933	17916933	8p22	T	C	Pathogenic	NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/94	94	000000114	15133	no assertion criteria provided
rs1057016	chr8	17387083	18387083	NA	17916939	17916939	8p22	G	A	Pathogenic	NM_177924.5(ASAH1):c.952C>T (p.Gln318Ter)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2103233	2103233	003022036	2158537	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17916960	17916960	8p22	G	A	Pathogenic	NM_177924.5(ASAH1):c.931C>T (p.Gln311Ter)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2195338	2195338	002628595	1929705	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs747457090	17916975	17916975	8p22	T	C	Pathogenic	NM_177924.5(ASAH1):c.918-2A>G	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/947765	947765	001218900	940898	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588974593	17917076	17917076	8p22	C	T	Likely pathogenic	NM_177924.5(ASAH1):c.917+5G>A	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812506	812506	001003336	800748	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs397509415	17917077	17917077	8p22	T	C	Pathogenic	NM_177924.5(ASAH1):c.917+4A>G	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/55908	55908	000049322	70551	no assertion criteria provided
rs1057016	chr8	17387083	18387083	rs771847002	17917112	17917112	8p22	G	A	Pathogenic	NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided	159950|NA	2590|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/812508	812508	001003338|001544563	800721	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17917112	17917113	8p22	CGT	C	Pathogenic	NM_177924.5(ASAH1):c.885_886del (p.Asp297fs)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323476	1323476	001784859	1313761	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs794729663	17917148	17917148	8p22	C	A	Pathogenic	NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	159950	2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/180642	180642	000157604	178804	no assertion criteria provided
rs1057016	chr8	17387083	18387083	rs895669204	17917165	17917165	8p22	G	A	Likely pathogenic	NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812493	812493	001003323	800722	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17917213	17917213	8p22	C	G	Likely pathogenic	NM_177924.5(ASAH1):c.786-1G>C	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2021277	2021277	002862532	2086880	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17917214	17917214	8p22	T	C	Likely pathogenic	NM_177924.5(ASAH1):c.786-2A>G	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1466316	1466316	001959474	1347675	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17918884	17918884	8p22	A	G	Likely pathogenic	NM_177924.5(ASAH1):c.785+2T>C	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1470866	1470866	001973375	1395093	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17918885	17918885	8p22	C	T	Likely pathogenic	NM_177924.5(ASAH1):c.785+1G>A	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1498177	1498177	001996451	1372817	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588977010	17918901	17918901	8p22	A	G	Likely pathogenic	NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812492	812492	001003322	800723	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1564537266	17918911	17918911	8p22	T	C	Pathogenic	NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812478	812478	001003307	800724	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588977181	17918969	17918969	8p22	T	C	Likely pathogenic	NM_177924.5(ASAH1):c.704-2A>G	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812504	812504	001003334	800749	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17919194	17919194	8p22	C	T	Likely pathogenic	NM_177924.5(ASAH1):c.703+1G>A	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2155121	2155121	003072173	1882690	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1554808625	17919195	17919195	8p22	C	G	Pathogenic	NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg)	ASAH1	Farber lipogranulomatosis|not provided	228000|NA	333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/545563	545563	000656521|002536315	536065	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs377749094	17919221	17919221	8p22	C	G	Likely pathogenic	NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812487	812487	001003317	800725	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17919232	17919235	8p22	GTGTA	G	Pathogenic	NM_177924.5(ASAH1):c.663_666del (p.Leu221_Thr222insTer)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1956640	1956640	002700995	2015486	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs137853593	17919233	17919233	8p22	G	T	Pathogenic	NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/91	91	000000111	15130	no assertion criteria provided
rs1057016	chr8	17387083	18387083	NA	17919248	17919248	8p22	TC	T	Pathogenic	NC_000008.11:g.18061741del	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451699	1451699	001993313	1426099	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17919250	17919251	8p22	CCT	C	Likely pathogenic	NM_177924.5(ASAH1):c.649-2_649-1del	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1987955	1987955	002790203	2036803	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1411267767	17919787	17919787	8p22	C	G	Likely pathogenic	NM_177924.5(ASAH1):c.648+1G>C	ASAH1	Farber lipogranulomatosis|not provided	228000|NA	333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/505533	505533	000614436|001854142	497027	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17919787	17919787	8p22	C	T	Likely pathogenic	NM_177924.5(ASAH1):c.648+1G>A	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1524682	1524682	002031901	1463156	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588978684	17919836	17919837	8p22	C	CTTGAAG	Pathogenic	NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe)	ASAH1	Farber lipogranulomatosis;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	228000;159950	333;2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/812481	812481	001003310	800727	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588978706	17919843	17919843	8p22	A	G	Likely pathogenic	NM_177924.5(ASAH1):c.593T>C (p.Val198Ala)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812475	812475	001003304	800728	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs137853597	17919892	17919892	8p22	G	C	Pathogenic	NM_177924.5(ASAH1):c.544C>G (p.Leu182Val)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/95	95	000000115	15134	no assertion criteria provided
rs1057016	chr8	17387083	18387083	rs762756953	17919898	17919898	8p22	C	T	Likely pathogenic	NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812483	812483	001003313	800729	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588978873	17919918	17919918	8p22	T	A	Pathogenic	NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome;Farber lipogranulomatosis	159950;228000	2590;333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812480	812480	001003309	800730	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs756455049	17919931	17919931	8p22	A	G	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg)	ASAH1	not provided|Farber lipogranulomatosis	NA|228000	NA|333	http://www.ncbi.nlm.nih.gov/clinvar/variation/191340	191340	000171533|001728167	189143	no assertion criteria provided
rs1057016	chr8	17387083	18387083	rs1421841663	17920695	17920695	8p22	C	A	Pathogenic	NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812477	812477	001003306	800731	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17920740	17920740	8p22	C	T	Likely pathogenic	NM_177924.5(ASAH1):c.458-1G>A	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2033850	2033850	002872685	2096910	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17920741	17920741	8p22	T	G	Likely pathogenic	NM_177924.5(ASAH1):c.458-2A>C	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1487395	1487395	002033543	1485288	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs767864356	17921962	17921962	8p22	T	C	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.457+4A>G	ASAH1	Farber lipogranulomatosis|not provided|Inborn genetic diseases	228000|NA|NA	333|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/812501	812501	001003331|001553355|002549207	800750	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17921966	17921967	8p22	C	CT	Pathogenic	NM_177924.5(ASAH1):c.456dup (p.Gly153fs)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1369094	1369094	001874575	1417984	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs200455852	17921967	17921967	8p22	T	G	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided	159950|NA	2590|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/180643	180643	000157605|000853058	178805	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17921967	17921968	8p22	CTT	C	Pathogenic	NM_177924.5(ASAH1):c.455_456del (p.Lys152fs)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2044222	2044222	002903525	2099512	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17921996	17921996	8p22	A	C	Pathogenic	NM_177924.5(ASAH1):c.427T>G (p.Cys143Gly)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299374	1299374	001728066	1289232	no assertion criteria provided
rs1057016	chr8	17387083	18387083	rs137853594	17922010	17922010	8p22	T	A	Likely pathogenic	NM_177924.5(ASAH1):c.413A>T (p.Glu138Val)	ASAH1	Farber lipogranulomatosis|not provided	228000|NA	333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/92	92	000000112|000853547	15131	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17922010	17922010	8p22	T	C	Likely pathogenic	NM_177924.5(ASAH1):c.413A>G (p.Glu138Gly)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/1687065	1687065	002250396	1679230	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588982399	17922011	17922011	8p22	C	A	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter)	ASAH1	Farber lipogranulomatosis|not provided	228000|NA	333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/812496	812496	001003326|001860535	800732	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	rs1281024431	17922012	17922013	8p22	CAT	C	Pathogenic	NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer)	ASAH1	Farber lipogranulomatosis|not provided|ASAH1-related condition	228000|NA|NA	333|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/812471	812471	001003299|001860533|003425878	800733	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	rs371666412	17922013	17922013	8p22	T	C	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome;Farber lipogranulomatosis|ASAH1-related condition	159950|NA|159950;228000|NA	2590|NA|2590;333|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375548	375548	000416939|001861470|002502451|003418103	362358	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17922013	17922014	8p22	T	TAAAAAATATTGAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATCACGAGTACACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	Pathogenic	NM_177924.5(ASAH1):c.409_410insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGTACTCGTGATCCTCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCATTCAATATTTTTT (p.Tyr137fs)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451339	1451339	002007185	1429593	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588982421	17922015	17922015	8p22	A	T	Likely pathogenic	NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812474	812474	001003302	800734	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17922035	17922036	8p22	ATC	A	Pathogenic	NM_177924.5(ASAH1):c.387_388del (p.Glu129fs)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451795	1451795	002007402	1426195	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs761372687	17922046	17922050	8p22	GAGAAA	G	Pathogenic	NM_177924.5(ASAH1):c.383-10_383-6del	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812484	812484	001003314	800751	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17923370	17932839	8p22	TGATTGTATATACAGATACACATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATGTATTGTATATTTATATCAAAGACACCACTGCAATTTGCTGAGGAAAGGATAGCCTTTTGAATTGATGCTGTTTAACTAACTGGATATACCACATGAGAAAAACCTGAAGCTTGACCCATAAGTCATAGCATATACAAAAATAATTCAAAATAGATGATAGGCCTAAATGTAAAAAGTAAACATTAAACATCTAGAAGAAAATATATAAGCATATATATATGACTTTGGGGTAGGCCAAGATTCCTTAAATGGATACAAAAGGCACTACTCATAAAAGAGAAGACTGAGATATTAGACTTCACTAAAATTAAAAATTTCTGTTCATCAAAAGACAAAAGTAAGAGAATAAAAATGAAGGTCATAGACTGGGAGCAGATATTCAGAATCCATATATCTGACAAAGGGCTTATATTCAAAGTATGTAAAAAATTCCTTCAATCTAATTTTTAAAAGGGCAAAAGACCTTCACAAGCCCTTCTCCAAAAGAAACAAAGAAAACCAAAAAAAAAAAAAAAAAGTCAATAAACTGTTCAATCTCATTAATCATCAAGGAAATGCAAATTGAAACTAAAATGCGATACTGCGACACTCAACAAAAAGGCTCAAATAAAGATTGACACTAACAAAAAAAAAGGAAAAAAAAAGACTGACACTATCGAGAGGAGAATTATCAAGAGGAGAAAACTGAAACTCTCATACTCTGCTGATTGTCAACTGCTGGAATCACTTTGGAAAACTGTTTGGCAGAATCTATAAGGCTAAACACACAATTACTCTATAACACAACAGTTCACTTCCTAGGTATATATCCAGAAAATGAGTACCCAGACACCCCCAAAATGTACTACAATATTTATAATTCCTTTATTGTTAATATCACAAATCTGAAAACCACCCAAATACCCTGTTGATACAATAGCACACCACCCATAATGAAATACAAGAAATCACACAGGACAGTTCATATTGTTCAGTTCTATTTATACAAAGTTCACGAAGAGGCAAAACTAATCTATAGTGACATCAGAATAGTGTTTACTGGAGGAGGCAGTATTTTCTGCAAAGGGGCATGATGGAGCATCGTGGAGTGCTGGGCTCTTCCGTATCTTGATCTGAGTCATGGCTACATGCATGCATGCATTTCTGAAGCTTCACTGAGCTGTATATCTAAGACCTGTGCACCTGTGCTGTATATCTAAGACATACAGCACCTGTGCTGTATGTATATCACACCTCAATGGAAACTTGTAAAAGAATTTAATTACTTTTTTTTTTAAAGCTTCTAAGTGAACTTTACCTAAAGGTATATCAGTAACAGCGGCAATACCCTTCATTTCCTCTTCAAAAGGGCCAGGAAAGTTGCCAAGTAGGCCAGGCTGGAAAACAAATATATTAATAAAAGCATTTAACATAATAACAATAAAAAATATATAATATAATATAAACAAATATAATAAAAGCATGCTTTGAAATCTAGTTCTTGGACATATAATTTTTTCTAGATACTGCTATCATAATAAGTGATAGGAATTATTTTTTAAAGCATTTTTACATCATGTAGTTATAAAAAGATTCTATGTAATACTGAATATTGGGCCCCTATACAGAGACCAGATTCTCAGATTGTTTTTCCTGCCTTATTTTTCCATCATTCTCCAGAGAAGGCAGGAACGAGAGTAATTCCACTTGGATGACCTAACCTGACCCACACCACAAAAACATCATAACAAGCACTCCTTATCTCTCTGCACGAATTCACCCTCTAGCCACTGGCATATACCGTTCTTACCATTTCCTTCCCACACTCACAGAGATAAACCTGCACTATTCTATCCATAGCCCTGTGTCATGGTTAATGGCTGATCTTCAGCTAAGATGAAGTAACTGCATTCTTTTAGCAAACCAGAGACATTGAGCAAATTCAGTGGTGGACATCATATATTTATTCTCAATGGCAACTACTAACATCCAGATCACAACTTAAGTTCACGGCCTTTTGCTGAGATAATCTGCTTAAAATTCACGAATCTCACTTTTTTAACCAACTTGGTAATTACATGTAATGTCACCTAAACATATTTTTTTTCTCCCTAGGAACTCAAAGCATTCCCCAAGTGGAATGTTCCAGCCATTTAACAAACAAATGTGACGTAATGGGTATTTATTAAACACTTATTACATCCAAGCACTATGCTTTATACACAGTATGTCATTTAACCCTTACAACCACCATATGAAATATATATTAGTAATTATTATTCTCCCTGATGAGAAAACTGAGGTTTCATAGGTTAAGAAACTTTCCCTAGGACACAAGGCTAGTATGTGACTGATCCAGCCTTAAAACCCAGTATTGTCCGATTCCAAGGCGTGGCACAAAAACTCTCTGCAATGTTGCCCTCCCTGATAACATTCAGAGTAGAGGGGAGATTAAGGCATACGGGGAACGTGGGGGCCTCATCCTCTTTTGCTCCTGCCAGCATTTTTTTGTTTTGAGGAAGTCCGGTAAGTATGAACATAAAGGATAGCCTGAAACAAAAGCTCCGAGAGCATGCACGTGAGGGATAATGGGTTTGGTGCTTGGCAGGTACAAGTGTCATAGGGAGGATGTGGCCACAGCACTCAGCCGCTAGGGCAATGATTCTCGACCACGGGAGATTTGGTAACATCTAAGGACATTTTTGGTTGTCACAACTGAGGGGGTGTTACCAGCATCCAGTGGGTAAGGGCCAGGGACACTGCTAAACATCCTGCAATGCACATGACAGCCCCACAAAAAAGAGACACCCACCCCAGGCCGGGCATCCTGAGCTGCTAAACATCCTGCAATGCACATGACAGCCCCACAAAAAAGAGACACCCACCCCAGGCCGGGCATCCTGGAATGTAGACAAGCCCACGACAAAGAAATATCCAACCCAGGCCGGGCATGGCGGTTCACACCTACGATCCCAACACTTTGGGAGAACACTTTGGGAGGTTGAGGCGGGAAGATCGCCTGAGCCCAGGAGTTGGGAGACCAGCCTGGGTGACACAGCAAGCCTCCGTCTCTACTAAAAATTCAGAAAAGTAGCTGGGTGTGGCGGCACGTGACTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGGATCCCTTGAGCCTGGGAGATCAAGGCAGCTGTGAGCTATGATCATGCCAGTGCACTCCAGCCTGGGCTACAGAGTGAGATGAGGTCTCAAAAAAAAAAAAAAAAAAAAAGCTGCCCAACCCCAAATGTCATTAATGCCCAAAATCTGCCATCAAGAGCAATGAGGATCCCTTTAACAGTTCTAGGGGCCAGGCCCTAGGTGTTTCATTGGTTCTGCGTCAACAAAAACGGGGCTGAGAAATGGAGTCTTCCTGCATGATGAGGATGAAAATGAAATGGTTTGGTGATTGCACAGAAACACTCAGCCCAAATGAGTTTCAGGGTCAGAGCTACTGAGGAACTCTACAGAATAAGGGGCCAGGCTGAGTATGTCATTTGCTCATATCTACAAAAAAAAAATCTCTGGATGTCCCTGAGACACTTAAGAAAAAAAACCAAGTCTTCAATAGTGAACTCACTACATAAAGGGAAGGAAATACCACACTCCCAGATGAAATATGGTTATTTGCCCAATGTCGTAATGTAGTCCCATCCCCTTTTACGAAACCATAATTTGCTATGCTGTAACCCTAATATTACCAATTCCCCAAATTTAAGTCCCTCTGAAGTTCTGACAGTGAGCTAGATTCATGCAGATTTGCCCAAGTCCCTGCGAAGAGGTTGCTGAATTATGCCTTTAAATAAATAACAGCGCATTTTCTATGTGCTTAACATTTATTGTGAGAAATAATATCTCTTACCAATTTTTCATCCACCACCTGCATAATTTTTCCACTTGGCACGAATGTATTTATCATATTCTTCAGAGAATTCACTATAACCTTTAGCTGAAAAATAAATAAAATGCTTACTAAAAGACATAATGAAATGCTGTCAAGATTACCTTTTGGCTTACCCATATGTAGCTAAAAGAGAGTGCTATTTGACAATTTATATATATATTTTTTAAAACAGCATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTAGCACCATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAAGTGTGCATCACCATTCCCAGCTAATTTTTGTATTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTCGCCCAGGCCGGAGTGCAATGGCACGATCTCTGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGATCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTACTGGGATTGATTACAGGCATGAGCCACCGTGCCTGGCCTCGATTAATACATTAATACAGTAAGTCTAATTTTATCTTTAAAGTGAATTTGATTCTTAATTATTTACATGAAGGGAGATGACATAAAGGGAAAGAAACAAAGGTAAAGTTTACAAAAAAGAACAAAGGCTACAGAGGAATGACCTCTTTTCCTCTGCTGTCACTTAACGTATAGGGCAGAAAGGTATCAAAAGCACAATTTTAAACTATTCTGTGGGTAATTTCATGAAGTGTTCTTTTAAAAATACAATAATATTTAATAAAGTTAGAAATAAAAGATTTAATATAGAATCTCCACGGTCCTTGGGGGGAAAATAAATAAATAAAATAAGAAATATGGCCGGGCATGGCGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTCGAGGTCAGGAGTTTGAGATCAGCTTGGACAACATGGCAAAATCTTGTCTCTACTAAAAATACAAAAATTAGCCGGCATGGTGGCAGGTGCCTGTAATTCCAGCTACTCGGGAAGCTGAGGCAGGGAAATTGCTAGAACCCAGGAGGCGGAGGTTGCGGCGAGCTGAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAACAAAAAAAAAATCAATCAATAAATAAAAATAAAGAAATAAAATAAAAAATAAAAATAAAGAAATAAAAGATTTAAGCATCATAGCATACCACTGGTGCCTTGTCAAGCATCAATTCATGCCATCTTTTGTAGGGTGGTAAGTCAAGATTTATGGTGTACCATGGAACTGCACCTCTGTACCTGTAATGAGAGGTGTATCATCTTGAAATGATGAAAGGGTTTTTTGTGAGGGTCAGTTAGATACATCTATAAGAATATATGAGAGGCAAAGTCTTAACAGCAGTGTAGAATTTGGTTACCCAAACCAAAATTTGGAAAGAAAGTTCATTCTCTACCTAGTGCTTCTAGGTTGAGAACACAATCATAAGCGGTCACAGAAATCCTGGAATAGAATGATCTAGTAGGGAAGGTTCATGTGAATTGGTTTTCTATGAAAAAATCAACTATGGCTTAAGAGCTCTAACCTGATTATCACTGACGGGAAATACCTGCCATTTTTTTTTTCTCCTAAATATCTGCAAAGATTTAGTCTGGGCTCTAGACAATTCTCCAATTGGTTTCCAGTTTCAGAATTCTCTCTCAGAGAGTGTAACACTATTGCCAAACCAATGTCTCCAGTGTTGCCTTCAGGAAGATCACCTTTTAAGCCCCAGATGGCAACATGTATTATCTTCCCACGATCAGCTTCAAGAACCTTCATGATTCTGTCAGCCATCCTAATCTTCCCTACTATATACCTCTTCTCTTCTCATTTTCCTGGACAAAGTCCAAGCCCAAGCTGTATTCTGTCATATCCTCCAACTTCCTACTCTTTAACTTACGTGCAGCAATTTCTGAGGATATAGCAACATCCAGTCACTTATCAGTGAAGCTGGGCCATATTTCTGGTGGATGAATTCTACAACTATTTTTGTTGCTATAGGAACATTATTTTCTGGCCCTGGTTACTAAACTGAAATAGCTTTTAAGGGTGTGCCAGTTAGTGGTTTATCAGTATAAACCTATGCCTAAAAATAACCATCATCTGTTCCACTGATCTGCTCCTGAGACTGGCAGGGTGACTCTGGTATGTGCCACAATGATACCAGTCTCCTAAATAGAAATGTTATCTAGACTTATGTCCATAGCTGGGGATGGGTTATTACCTAAGTCATGAACTGTGGTTCTATTTATATTTCCACTATCATAAATAATTACTTGGTTCTCTAAATAATGCTGTGTAACTTGGGGCCCTGGTATATGTATGAGGTTTTATGAAACTGTTAACTAGCAGACATTCAGGTTGTGATTTAGACAGAAAAGTATATTCGATTTTGGAAATGTACATTTAAACAAAATCATAGTGAACGAATTTTGTTCTTCTCAAAGCATTTTCAAGTTCCCCATTTTCTTAGGAGCTGATATCTACATGAAATGCTACAATACTTATATTCTAGAAAAAAACTTTTCATCACAACAAATTAATTCCATTTCTGACAGACCATAATTTCACATGTAAAATTTTGTCCCACAATTCAGTAAGTAATTATTGTTCCCCATATTATGGGCAGGTATTACTAGTCTCCCCTCTCCCTTCAACTGTGCATTTAGATTTCTATGTCTAGTAGCAAAGATAACTCAGTGGCCTGTTGGAGATATGCATCTCATCCCTATGAACTCCAATCAGCTGCTCCTCACCTCATAACATCCAACCAATCCCAAATCATGCCTCTATACCCGCCATAAATTCCTGATTCTTTTTCAGCCTAGAGTCCTGGGTAGGTTCATGGATCTCAGAGACGCGATGAGAGGGGATGAACACAACACAACGGACAATGAAGGGATTACAATGAAGTGGGGATGATGAGACCCCACAAACCTCTCTACCATCAAACCTGCACTAATTAGAATTTGAGAGAACTGGTTAATCTAATAAACCAAATTATTTTAATGACTAAAGCTTAGCCATAATTGCACATTTTACCTCTCGTTAAACAGTTTTCTAAAACATTTCAGTATTTAACTTGTGCGCCTCCATTTCCCCATAAGAATAAAAGAGTATCCACCTTATAACAGCAGGGAAGACACTATATGAAAAATGCAAAAATAAAAAAAACACTTAGCAGCATTGGTATTCAATCAACAGTAGTCATCACAATTTATTTTCCTACTTCACTGCAAACAAGAAATATCATTTCATCATTTTTGAGACTTAGTGTTTGCAATGTCCATGCCATTCATAATATCAGCAACATCACCTGAACCCACATGGCTACCTAGGTGGCATGGAAACTAGTCCAAGTGACACAACACACACATATACAAATAAGAGAGCAAGTGCTAGGCATCCCGTGAGCAGTGGGAAAGAAATGCTGAATGGGACTCAGATGGACTCAGGGGTGATCTGGCTATCAGTTCCTTTATCTTCAGCATTGATTTGACTAGTCATGCTGGCCAAACAGGTTATCTTTTTCTTCCCTCATATCTGCCCATGGATGCTGCCCAAATCTACGCACTTAATTGAAAAGGATGATCTCAAAGGAACAGAACGTCTGTTTGTCATTCAAAGGTACATAAATACCACAGTTATCTCCTAAATCTCAAGATCCATTGATAGAGTTGAGAGAAGAGAAGGATAAGAGCAAAGCCGAGGCTTTTTGTGTAGGAAAGCAGGCTAGTGAGATAAAAAGAAAGCTAGCGAAAAAATGAAGGCAAGGAAAGAAACATACAAGTTATGTCCATGTATACACGTGTATGTGTTTTGGAGTACATATGTATGTATACATGTAGGTATGTATGCACATAGGTAGACACACACTCACATGCACATGGCAATAAGAGTCAGTAAAATGCCTAATCAGGAAAGGTTTATGGTTTGCAGGGCATTCAATTTATAGACACATGTAAAGTGCACCTAAAAGGGAGTAGAAACGGCCTCAAACATGGAAGGCACCTCATTAAATGTTCAATGAATTGGGGCAGTGAGACCAACAGAGAGACATAATCAATCAGTAAGGCAGACATGTCACTGAAGGCCAGAATGATGCCAGTGATGACAGAAAGGAAGACTTTCAGACAGCAGGCCATTGAAGAAAGAGCTGGAATGAACACTGGCCCCAAACAACATCCAAACTGGTTACCTCTAAATTGCTTCCTGCCAAATACTGGCCTCTTTCTACATAAAGGCGAGTAAGTCAAAAGAACTTAGTTTATTACAGTTTCACGCTATCTGGGACAGAGGCTATTTAAAATACATCGTTTAGACAACAACAGTACAACGTAAGTAATTTGGAATGTTGCACGAACTGAAAATGTCATCTTGATATCACTAGATAGAGTTGTACTGTTTCCCCCTACAAACAGCAGGCTACTTTCAGCGAAAGGGCAGTGTAGGAGAAAAAGATCACCACCCCCTATACCTGTTCCTTCTTTTCTCTGTTCTGTACACTCTGAGGGGTCTGTGAGCTGTTATTATGGCTTTCTCACAGGCCCATTTAAACACTGAGGATTTGGAAAGACCAAAATCTAGACTAAAAATATTAATGTTAAACACACTGAATCATGACATTGGTCCTCCTCTTAGGTGTTCCAATCCTGTTTTGTCCTCGACAGCTTTGTTGTGCCAAGGTTTATTTTGAGAACGTTTCACATATGAGGGCCTATGCTTTTTTGTTACAATATAATTTGGTGGTTTATATCCAGGCACCATAGAGAATCACAGGTCATTTCAAATACAGCCCTTACATTTGTCAAAGATGAGAAAAACCCTTCATGGTAGACAGGAGAATTGAGTGGAGAATGAAAATCCTTTCCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGACTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTAGCCAGCATGGTCTCGATCTCCTGACCTTATGATTTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCTGGCTGAAAATCCTTTTCTTTCCGATGATTTTGATAGTCTAGC	T	Pathogenic	NM_177924.5(ASAH1):c.125+211_383-1330del	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/545564	545564	000656522	536066	no assertion criteria provided
rs1057016	chr8	17387083	18387083	NA	17924753	17924753	8p22	C	G	Pathogenic	NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299375	1299375	001728067	1289233	no assertion criteria provided
rs1057016	chr8	17387083	18387083	rs1588986195	17924797	17924797	8p22	A	G	Likely pathogenic	NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812503	812503	001003333	800735	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17927301	17930785	8p22	NA	NA	Pathogenic	NC_000008.10:g.(?_17927301)_(17930785_?)del	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1070162	1070162	001382193	1057347	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588989947	17927312	17927314	8p22	TCCA	T	Pathogenic	NM_177924.5(ASAH1):c.287TGG[1] (p.Val97del)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812499	812499	001003329	800736	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588989964	17927314	17927314	8p22	A	C	Likely pathogenic	NM_177924.5(ASAH1):c.290T>G (p.Val97Gly)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812472	812472	001003300	800737	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588989964	17927314	17927314	8p22	A	T	Pathogenic	NM_177924.5(ASAH1):c.290T>A (p.Val97Glu)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812473	812473	001003301	800738	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17927321	17927321	8p22	G	A	Pathogenic	NM_177924.5(ASAH1):c.283C>T (p.Gln95Ter)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454635	1454635	001941967	1444974	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1336696568	17927347	17927348	8p22	G	GT	Pathogenic	NM_177924.5(ASAH1):c.256dup (p.Thr86fs)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812502	812502	001003332	800739	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588990194	17927380	17927381	8p22	A	AG	Pathogenic	NM_177924.5(ASAH1):c.223_224insC (p.Val75fs)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	159950	2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/812500	812500	001003330	800740	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17927389	17927389	8p22	T	C	Likely pathogenic	NM_177924.5(ASAH1):c.217-2A>G	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1506885	1506885	002007056	1426945	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17928807	17928807	8p22	A	G	Likely pathogenic	NM_177924.5(ASAH1):c.216+2T>C	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1485242	1485242	002008517	1393968	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17928817	17928817	8p22	GC	G	Pathogenic	NM_177924.5(ASAH1):c.208del (p.Ala70fs)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2088721	2088721	003018171	2151795	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17928839	17928839	8p22	C	T	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)	ASAH1	not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome;Farber lipogranulomatosis	NA|159950;228000	NA|2590;333	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323941	1323941	001780646|002482308	1314221	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17928840	17928840	8p22	C	T	Pathogenic	NM_177924.5(ASAH1):c.185G>A (p.Trp62Ter)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2069383	2069383	002962125	2129473	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs766395283	17928848	17928848	8p22	G	C	Likely pathogenic	NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	159950	2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/812470	812470	001003298	800741	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17928848	17928848	8p22	G	T	Pathogenic	NM_177924.5(ASAH1):c.177C>A (p.Tyr59Ter)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2413836	2413836	003104632	1940215	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs771718522	17928850	17928851	8p22	A	AG	Pathogenic	NM_177924.5(ASAH1):c.174dup (p.Tyr59fs)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812486	812486	001003316	800742	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs369707059	17928878	17928878	8p22	C	T	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/620456	620456	000760836	611695	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17933030	17942330	8p22	NA	NA	Pathogenic	NC_000008.11:g.(?_18075521)_(18084821_?)del	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/646400	646400	000800674	651845	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17933031	17933054	8p22	ATCATCTGATGTTTACTCACGTTGG	A	Likely pathogenic	NM_177924.5(ASAH1):c.121_125+19del	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/1802199	1802199	002465012	1859385	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17933049	17933049	8p22	C	A	Pathogenic	NM_177924.5(ASAH1):c.125+1G>T	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2025980	2025980	002858257	2077471	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588999312	17933049	17933049	8p22	C	T	Pathogenic	NM_177924.5(ASAH1):c.125+1G>A	ASAH1	not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	NA|159950	NA|2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/662497	662497	000820153|001003311	651777	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	rs145873635	17933050	17933050	8p22	G	A	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided|ASAH1-related disorders|ASAH1-related condition	159950|NA|NA|NA	2590|NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/35544	35544	000029199|000724837|001270895|003390700	44215	criteria provided, multiple submitters, no conflicts
rs1057016	chr8	17387083	18387083	NA	17933066	17933066	8p22	G	T	Likely pathogenic	NM_177924.5(ASAH1):c.109C>A (p.Pro37Thr)	ASAH1	Abnormality of the nervous system	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1180796	1180796	001814525	1170238	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs137853595	17933068	17933068	8p22	T	C	Likely pathogenic	NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/93	93	000000113	15132	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17933081	17933081	8p22	T	A	Likely pathogenic	NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/1698792	1698792	002272649	1691168	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs1588999402	17933083	17933083	8p22	C	A	Likely pathogenic	NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe)	ASAH1	Farber lipogranulomatosis	228000	333	http://www.ncbi.nlm.nih.gov/clinvar/variation/812489	812489	001003319	800743	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17941470	17941567	8p22	NA	NA	Pathogenic	NC_000008.10:g.(?_17941470)_(17941567_?)del	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1457179	1457179	001953624	1477916	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	rs886039750	17941491	17941491	8p22	G	C	Pathogenic	NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)	ASAH1	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	159950	2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/812482	812482	001003312	800744	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17941492	17941507	8p22	GGCGGCGCGTGCTGCGC	G	Pathogenic	NM_177924.5(ASAH1):c.61_76del (p.Ala21fs)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1363975	1363975	001937278	1389795	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17941504	17941504	8p22	G	A	Pathogenic	NM_177924.5(ASAH1):c.64C>T (p.Gln22Ter)	ASAH1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459650	1459650	001963132	1484838	criteria provided, single submitter
rs1057016	chr8	17387083	18387083	NA	17941565	17941565	8p22	C	A	Pathogenic/Likely pathogenic	NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)	ASAH1	not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|Farber lipogranulomatosis;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	NA|159950|228000;159950	NA|2590|333;2590	http://www.ncbi.nlm.nih.gov/clinvar/variation/1163018	1163018	001507724|001647301|002506589	1152300	criteria provided, multiple submitters, no conflicts
rs1384103	chr8	73352753	74352753	NA	73739252	73739252	8q21.11	G	A	risk factor	NM_004770.3(KCNB2):c.580-108918G>A	KCNB2	Colorectal cancer	114500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1342844	1342844	002280590	1334482	no assertion criteria provided
rs7035015	chr9	4442546	5442546	NA	3828272	5126791	9p24.2-24.1	NA	NA	Pathogenic	NC_000009.11:g.(?_3828272)_(5126791_?)del	GLIS3	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427400	2427400	003113729	1950176	criteria provided, single submitter
rs7035015	chr9	4442546	5442546	nsv1067898	4406529	4490826	9p24.2	NA	NA	Pathogenic	nsv1067898	SLC1A1	Schizophrenia 18	615232	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/50362	50362	000043513	59487	no assertion criteria provided
rs7035015	chr9	4442546	5442546	NA	4438880	4528118	9p24.2	NA	NA	Pathogenic	GRCh37/hg19 9p24.2(chr9:4438880-4528118)x1	SLC1A1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/687614	687614	000848305	675206	no assertion criteria provided
rs7035015	chr9	4442546	5442546	rs587777697	4576750	4576752	9p24.2	GATC	G	Pathogenic	NM_004170.6(SLC1A1):c.1181TCA[1] (p.Ile395del)	SLC1A1	Dicarboxylic aminoaciduria	222730	2195	http://www.ncbi.nlm.nih.gov/clinvar/variation/155860	155860	000143977	165609	no assertion criteria provided
rs7035015	chr9	4442546	5442546	rs755579388	4583108	4583108	9p24.2	G	A	Likely pathogenic	NM_004170.6(SLC1A1):c.1264G>A (p.Val422Met)	SLC1A1	Cerebral visual impairment and intellectual disability	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/224823	224823	000210380	226649	criteria provided, single submitter
rs7035015	chr9	4442546	5442546	rs587777696	4585316	4585316	9p24.2	C	T	Pathogenic	NM_004170.6(SLC1A1):c.1333C>T (p.Arg445Trp)	SLC1A1	Dicarboxylic aminoaciduria	222730	2195	http://www.ncbi.nlm.nih.gov/clinvar/variation/155859	155859	000143976	165608	no assertion criteria provided
rs7035015	chr9	4442546	5442546	NA	4827019	4827019	9p24.1	C	T	Pathogenic	NM_005772.5(RCL1):c.370C>T (p.Gln124Ter)	RCL1	Psychosis	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/995853	995853	001376129	983554	no assertion criteria provided
rs7035015	chr9	4442546	5442546	NA	5022214	5022214	9p24.1	G	T	Likely pathogenic	NM_004972.4(JAK2):c.226+1G>T	JAK2	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2504150	2504150	003232939	2669106	criteria provided, single submitter
rs7035015	chr9	4442546	5442546	NA	5070026	5070027	9p24.1	AA	TT	Pathogenic	NM_004972.4(JAK2):c.1615_1616inv (p.Lys539Leu)	JAK2	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/14664	14664	000015774	29703	no assertion criteria provided
rs7035015	chr9	4442546	5442546	rs121912472	5073742	5073742	9p24.1	G	C	Pathogenic	NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn)	JAK2	Acute myeloid leukemia	601626	519	http://www.ncbi.nlm.nih.gov/clinvar/variation/14663	14663	000015773	29702	no assertion criteria provided
rs7035015	chr9	4442546	5442546	rs77375493	5073770	5073770	9p24.1	G	A	Pathogenic	NM_004972.4(JAK2):c.1849G>A (p.Val617Ile)	JAK2	Thrombocythemia 3	614521	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/29763	29763	000022629	38718	no assertion criteria provided
rs7035015	chr9	4442546	5442546	rs77375493	5073770	5073770	9p24.1	G	T	Pathogenic/Likely pathogenic	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	JAK2	Acquired polycythemia vera|Primary myelofibrosis|Acute myeloid leukemia|Budd-Chiari syndrome, susceptibility to, somatic|Thrombocythemia 3|Primary familial polycythemia due to EPO receptor mutation|Chronic myelogenous leukemia, BCR-ABL1 positive|Myeloproliferative disorder|Subacute lymphoid leukemia|6 conditions|Polycythemia|Primary myelofibrosis;Splenomegaly|not provided	263300|254450|601626|NA|614521|133100|608232|NA|NA|NA|NA|254450;NA|NA	729|824|519|NA|NA|90042|521|NA|NA|NA|98427|824;NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/14662	14662	000015769|000015770|000015771|000015772|000022627|000022628|000420273|000427081|000428162|000763621|001003804|001003803|001092995	29701	criteria provided, multiple submitters, no conflicts
rs7035015	chr9	4442546	5442546	rs1057519721	5078360	5078360	9p24.1	A	G	Pathogenic/Likely pathogenic	NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly)	INSL6;JAK2	Lymphoblastic leukemia, acute, with lymphomatous features|Myeloproliferative disorder	247640|NA	513|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/375951	375951	000434785|000443966	362830	no assertion criteria provided
rs7035015	chr9	4442546	5442546	rs1057519722	5078361	5078361	9p24.1	G	C	Pathogenic	NM_004972.4(JAK2):c.2048G>C (p.Arg683Thr)	INSL6;JAK2	Lymphoblastic leukemia, acute, with lymphomatous features	247640	513	http://www.ncbi.nlm.nih.gov/clinvar/variation/375952	375952	000423852	362831	no assertion criteria provided
rs7035015	chr9	4442546	5442546	rs1057519723	5078362	5078362	9p24.1	A	C	Pathogenic	NM_004972.4(JAK2):c.2049A>C (p.Arg683Ser)	INSL6;JAK2	Lymphoblastic leukemia, acute, with lymphomatous features	247640	513	http://www.ncbi.nlm.nih.gov/clinvar/variation/375953	375953	000433693	362832	no assertion criteria provided
rs7035015	chr9	4442546	5442546	rs1057519723	5078362	5078362	9p24.1	A	T	Pathogenic	NM_004972.4(JAK2):c.2049A>T (p.Arg683Ser)	INSL6;JAK2	Lymphoblastic leukemia, acute, with lymphomatous features	247640	513	http://www.ncbi.nlm.nih.gov/clinvar/variation/375954	375954	000443665	362833	no assertion criteria provided
rs7035015	chr9	4442546	5442546	NA	5081725	5081726	3q13.31;9p24.1	NA	NA	Likely pathogenic	t(3;9)(q13.31;p24.1)	JAK2;ZBTB20	B Acute Lymphoblastic Leukemia;Eosinophilia;Myeloproliferative disorder	NA;131400;NA	NA;NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/869413	869413	001030056	857631	criteria provided, single submitter
rs7035015	chr9	4442546	5442546	NA	5089702	5089702	9p24.1	G	A	Likely pathogenic	NM_004972.4(JAK2):c.2600G>A (p.Arg867Gln)	JAK2	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2136731	2136731	003058210	1868199	criteria provided, single submitter
rs7035015	chr9	4442546	5442546	rs1057520016	5089726	5089726	9p24.1	C	A	Likely pathogenic	NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn)	INSL6;JAK2	Myeloproliferative disorder	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/376705	376705	000435377	363584	no assertion criteria provided
rs7020567	chr9	19448536	20448536	nsv531615	20380585	20478576	9p21.3	NA	NA	Pathogenic	GRCh38/hg38 9p21.3(chr9:20380587-20478578)x1	MIR4473;MLLT3	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/59103	59103	000052901	73698	criteria provided, single submitter
rs426632	chr9	118496950	119496950	nsv3109861	118602947	121246861	9q33.1	NA	NA	Likely pathogenic	GRCh37/hg19 9q33.1(chr9:118602947-121246861)x1	ASTN2;PAPPA;PAPPA-AS1;TLR4;TRIM32	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/443716	443716	000511914	437378	no assertion criteria provided
rs426632	chr9	118496950	119496950	NA	119311659	119462832	9q33.1	NA	NA	risk factor	GRCh37/hg19 9q33.1(chr9:119311659-119462832)	ASTN2;TRIM32	Cerebral palsy	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1172814	1172814	001796567	1161993	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119380583	119495822	9q33.1	NA	NA	Pathogenic	NC_000009.11:g.(?_119380583)_(119495822_?)del	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/1069572	1069572	001381473	1057374	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119380603	119568099	9q33.1	NA	NA	Pathogenic	NC_000009.12:g.(?_116618324)_(116805820_?)del	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/832633	832633	001033107	820042	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119448976	119461984	9q33.1	NA	NA	Pathogenic	GRCh37/hg19 9q33.1(chr9:119448976-119461984)x1	ASTN2;TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2499117	2499117	003223326	2477094	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119449580	119463580	9q33.1	NA	NA	Pathogenic	NC_000009.11:g.(?_119449580)_(119463580_?)del	TRIM32	Autosomal recessive limb-girdle muscular dystrophy	NA	102015	http://www.ncbi.nlm.nih.gov/clinvar/variation/1878371	1878371	002510424	1935136	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119449661	119463580	9q33.1	NA	NA	Pathogenic	NC_000009.11:g.(119449661_119459940)_(119463580_?)del	TRIM32	Autosomal recessive limb-girdle muscular dystrophy	NA	102015	http://www.ncbi.nlm.nih.gov/clinvar/variation/2504043	2504043	003231034	2668949	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460002	119462003	9q33.1	NA	NA	Pathogenic	NC_000009.12:g.(?_116697723)_(116699724_?)del	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/462941	462941	000534996	458121	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460012	119461993	9q33.1	NA	NA	Pathogenic	NC_000009.12:g.(?_116697733)_(116699714_?)del	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/831287	831287	001031853	820043	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460022	119461983	9q33.1	NA	NA	Pathogenic	NC_000009.12:g.(?_116697743)_(116699704_?)del	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/833078	833078	001033537	820044	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460022	119583062	9q33.1	NA	NA	Pathogenic	NC_000009.12:g.(?_116697743)_(116820783_?)del	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/831676	831676	001032220	820045	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460094	119460094	9q33.1	G	T	Likely pathogenic	NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)	TRIM32	Autosomal recessive limb-girdle muscular dystrophy	NA	102015	http://www.ncbi.nlm.nih.gov/clinvar/variation/1705156	1705156	002281786	1699685	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs1554732594	119460137	119460143	9q33.1	TGTGGCCA	T	Likely pathogenic	NM_012210.4(TRIM32):c.116_122del (p.Cys39fs)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/497359	497359	000593516	488783	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460155	119508439	9q33.1	NA	NA	Pathogenic	NC_000009.11:g.(?_119460155)_(119508439_?)del	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/1460307	1460307	001983039	1494010	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs1554732623	119460216	119460225	9q33.1	GCAAGATTACC	G	Pathogenic/Likely pathogenic	NM_012210.4(TRIM32):c.196_205del (p.Lys66fs)	TRIM32	not provided|TRIM32-related condition	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/437053	437053	000500015|003392335	428893	criteria provided, multiple submitters, no conflicts
rs426632	chr9	118496950	119496950	NA	119460406	119460406	9q33.1	C	T	Likely pathogenic	NM_012210.4(TRIM32):c.385C>T (p.Gln129Ter)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2434240	2434240	003132950	2408177	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs111033571	119460409	119460409	9q33.1	C	T	Pathogenic	NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)	TRIM32	Bardet-Biedl syndrome 11|Bardet-Biedl syndrome	615988|NA	110|110	http://www.ncbi.nlm.nih.gov/clinvar/variation/7351	7351	000007776|000199127	22390	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs749696299	119460477	119460484	9q33.1	AGTTAACTC	A	Pathogenic/Likely pathogenic	NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)	TRIM32	Bardet-Biedl syndrome|Sarcotubular myopathy;Bardet-Biedl syndrome 11|Autosomal recessive limb-girdle muscular dystrophy	NA|254110;615988|NA	110|1878;110|102015	http://www.ncbi.nlm.nih.gov/clinvar/variation/972625	972625	001248699|002491850|003155382	955671	criteria provided, multiple submitters, no conflicts
rs426632	chr9	118496950	119496950	NA	119460496	119460497	9q33.1	C	CTT	Pathogenic	NM_012210.4(TRIM32):c.476_477dup (p.Met160fs)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/1391008	1391008	001889693	1489726	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460501	119460501	9q33.1	TG	T	Pathogenic	NM_012210.4(TRIM32):c.484del (p.Glu162fs)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/2157886	2157886	003078324	1890191	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs886044692	119460530	119460530	9q33.1	T	A	Pathogenic	NM_012210.4(TRIM32):c.509T>A (p.Leu170Ter)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/291222	291222	000354711	275459	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460557	119460558	9q33.1	C	CAAGGTAA	Pathogenic	NM_012210.4(TRIM32):c.542_543insAAAGGTA (p.Tyr181Ter)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/1076771	1076771	001390764	1061528	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460624	119460625	9q33.1	GCT	G	Pathogenic	NM_012210.4(TRIM32):c.606_607del (p.Arg203fs)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451474	1451474	002007240	1425876	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs398124253	119460699	119460699	9q33.1	C	A	Pathogenic	NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/851055	851055	001055372	835426	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs747685252	119460712	119460712	9q33.1	TG	T	Pathogenic/Likely pathogenic	NM_012210.4(TRIM32):c.691del (p.Ala231fs)	TRIM32	not provided|Limb-girdle muscular dystrophy	NA|NA	NA|263	http://www.ncbi.nlm.nih.gov/clinvar/variation/498076	498076	000595484|000611170	489500	criteria provided, multiple submitters, no conflicts
rs426632	chr9	118496950	119496950	rs886043553	119460721	119460721	9q33.1	C	T	Likely pathogenic	NM_012210.4(TRIM32):c.700C>T (p.Gln234Ter)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/432022	432022	000498720	425813	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460743	119460743	9q33.1	A	G	Likely pathogenic	NM_012210.4(TRIM32):c.722A>G (p.Tyr241Cys)	ASTN2;TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/2498310	2498310	003222528	2476287	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs1861000401	119460779	119460779	9q33.1	CT	C	Pathogenic	NM_012210.4(TRIM32):c.758del (p.Leu253fs)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/947407	947407	001218479	925344	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460886	119460887	9q33.1	C	CG	Likely pathogenic	NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)	TRIM32	Bardet-Biedl syndrome 11	615988	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/2431597	2431597	003142233	2405101	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460889	119460889	9q33.1	C	T	Pathogenic	NM_012210.4(TRIM32):c.868C>T (p.Gln290Ter)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454351	1454351	001941825	1366956	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs1554733019	119460937	119460938	9q33.1	T	TC	Pathogenic	NM_012210.4(TRIM32):c.918dup (p.Trp307fs)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/497196	497196	000595283	488620	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119460949	119460949	9q33.1	G	T	Pathogenic	NM_012210.4(TRIM32):c.928G>T (p.Glu310Ter)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/2127373	2127373	003047756	2174911	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs759376012	119461128	119461128	9q33.1	GA	G	Pathogenic/Likely pathogenic	NM_012210.4(TRIM32):c.1108del (p.Met370fs)	TRIM32	Bardet-Biedl syndrome|not provided	NA|NA	110|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/462946	462946	000542368|000728959	458827	criteria provided, multiple submitters, no conflicts
rs426632	chr9	118496950	119496950	rs1564217246	119461149	119461150	9q33.1	GTC	G	Pathogenic/Likely pathogenic	NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)	TRIM32	not provided|Bardet-Biedl syndrome 11;Sarcotubular myopathy	NA|615988;254110	NA|110;1878	http://www.ncbi.nlm.nih.gov/clinvar/variation/597209	597209	000733263|002507304	588270	criteria provided, multiple submitters, no conflicts
rs426632	chr9	118496950	119496950	rs1861028831	119461181	119461182	9q33.1	T	TCGCTGACC	Pathogenic	NM_012210.4(TRIM32):c.1161_1168dup (p.Arg390fs)	ASTN2;TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/870905	870905	001090598	859693	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119461205	119461206	9q33.1	T	TA	Pathogenic	NM_012210.4(TRIM32):c.1185dup (p.Gln396fs)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/1072407	1072407	001385099	1061529	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119461212	119461213	9q33.1	C	CT	Likely pathogenic	NM_012210.4(TRIM32):c.1194dup (p.Thr399fs)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2434235	2434235	003132948	2408172	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs747266069	119461222	119461222	9q33.1	A	T	Pathogenic	NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)	TRIM32	Sarcotubular myopathy	254110	1878	http://www.ncbi.nlm.nih.gov/clinvar/variation/802505	802505	000988245	790832	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs886044913	119461381	119461382	9q33.1	G	GTA	Pathogenic	NM_012210.4(TRIM32):c.1365_1366dup (p.Thr456fs)	TRIM32;ASTN2	Elevated circulating creatine kinase concentration	123320	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/291311	291311	000306682	275546	no assertion criteria provided
rs426632	chr9	118496950	119496950	rs35904234	119461389	119461390	9q33.1	C	CT	Pathogenic	NM_012210.4(TRIM32):c.1370dup (p.Leu457fs)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/860768	860768	001067138	835430	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119461398	119461398	9q33.1	GC	G	Likely pathogenic	NM_012210.4(TRIM32):c.1378del (p.His460fs)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2434251	2434251	003132957	2408188	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs111033570	119461480	119461480	9q33.1	G	A	Pathogenic	NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)	TRIM32	Sarcotubular myopathy|Myopathy|Bardet-Biedl syndrome|Bardet-Biedl syndrome 11|not provided	254110|NA|NA|615988|NA	1878|NA|110|110|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/7350	7350	000007775|000414917|000538874|001198489|001781203	22389	criteria provided, multiple submitters, no conflicts
rs426632	chr9	118496950	119496950	NA	119461538	119461550	9q33.1	AAATACAGCTGCCT	A	Pathogenic	NM_012210.4(TRIM32):c.1518_1530del (p.Lys506fs)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/1424414	1424414	001921635	1438290	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs1588218453	119461580	119461580	9q33.1	AC	A	Pathogenic/Likely pathogenic	NM_012210.4(TRIM32):c.1560del (p.Cys521fs)	TRIM32	Sarcotubular myopathy|Bardet-Biedl syndrome 11|not provided|Bardet-Biedl syndrome 11;Sarcotubular myopathy	254110|615988|NA|615988;254110	1878|110|NA|110;1878	http://www.ncbi.nlm.nih.gov/clinvar/variation/7352	7352	000007777|001198484|001781204|002504765	22391	criteria provided, multiple submitters, no conflicts
rs426632	chr9	118496950	119496950	rs886044106	119461588	119461594	9q33.1	TGCTGAGG	T	Pathogenic/Likely pathogenic	NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs)	TRIM32	not provided|Bardet-Biedl syndrome|TRIM32-related condition	NA|NA|NA	NA|110|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/289166	289166	000597233|001071557|003417909	273403	criteria provided, multiple submitters, no conflicts
rs426632	chr9	118496950	119496950	NA	119461605	119461605	9q33.1	C	G	Likely pathogenic	NM_012210.4(TRIM32):c.1584C>G (p.Tyr528Ter)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2434245	2434245	003131765	2408182	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119461613	119523251	9q33.1	NA	NA	Pathogenic	NC_000009.11:g.(?_119461613)_(119523251_?)del	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/2425778	2425778	003116570	1939782	criteria provided, single submitter
rs426632	chr9	118496950	119496950	NA	119461623	119461623	9q33.1	GC	G	Pathogenic	NM_012210.4(TRIM32):c.1603del (p.Leu535fs)	TRIM32	Sarcotubular myopathy	254110	1878	http://www.ncbi.nlm.nih.gov/clinvar/variation/1343785	1343785	001844801	1335483	no assertion criteria provided
rs426632	chr9	118496950	119496950	NA	119461633	119461633	9q33.1	G	T	Likely pathogenic	NM_012210.4(TRIM32):c.1612G>T (p.Glu538Ter)	TRIM32	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2434248	2434248	003132954	2408185	criteria provided, single submitter
rs426632	chr9	118496950	119496950	rs1564218190	119461704	119461704	9q33.1	TG	T	Likely pathogenic	NM_012210.4(TRIM32):c.1685del (p.Gly562fs)	TRIM32	Bardet-Biedl syndrome	NA	110	http://www.ncbi.nlm.nih.gov/clinvar/variation/581880	581880	000705828	565437	criteria provided, single submitter
rs61611140	chr10	2702988	3702988	NA	3181221	3181221	10p15.2	G	A	Pathogenic	NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met)	PITRM1	Spinocerebellar ataxia, autosomal recessive 30	619405	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1175724	1175724	001530972	1165216	no assertion criteria provided
rs61611140	chr10	2702988	3702988	NA	3189441	3189442	10p15.2	A	AC	Pathogenic	NM_014889.4(PITRM1):c.2236-1dup	PITRM1	Infantile onset spinocerebellar ataxia	271245	1186	http://www.ncbi.nlm.nih.gov/clinvar/variation/1120050	1120050	001449674	1108851	no assertion criteria provided
rs61611140	chr10	2702988	3702988	NA	3207512	3207512	10p15.2	C	T	Pathogenic	NM_014889.4(PITRM1):c.548G>A (p.Arg183Gln)	PITRM1	Spinocerebellar ataxia, autosomal recessive 30	619405	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1175723	1175723	001530971	1165215	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57235082	57467503	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57235082)_(57467503_?)del	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1076333	1076333	001390202	1057552	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57365055	57365055	11q12.1	C	T	Pathogenic	NC_000011.10:g.57597582C>T	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/3956	3956	000004162	18995	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57365055	57367870	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57365055)_(57367870_?)del	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459186	1459186	001975173	1406313	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57365055	57369662	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57365055)_(57369662_?)del	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1454473	1454473	001960674	1444815	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57365055	57374040	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57365055)_(57374040_?)del	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2422286	2422286	003119232	1942319	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1945307391	57365567	57365567	11q12.1	G	T	Pathogenic	NM_000062.3(SERPING1):c.-22-155G>T	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/870444	870444	001090004	858612	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1565168898	57365744	57365744	11q12.1	A	C	Pathogenic	NM_000062.3(SERPING1):c.1A>C (p.Met1Leu)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/626353	626353	000768692	614679	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1565168898	57365744	57365744	11q12.1	A	G	Pathogenic	NM_000062.3(SERPING1):c.1A>G (p.Met1Val)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/626352	626352	000768691	614680	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1945310324	57365751	57365751	11q12.1	TC	T	Likely pathogenic	NM_000062.3(SERPING1):c.9del (p.Arg4fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/830237	830237	001030448	818637	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1590821401	57365792	57365792	11q12.1	TG	T	Likely pathogenic	NM_000062.3(SERPING1):c.51+1del	SERPING1	Angioedema	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/689535	689535	000850285	677237	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57365795	57365795	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.51+1G>A	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1387977	1387977	001875712	1374598	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57365797	57365797	11q12.1	A	G	Pathogenic	NM_000062.3(SERPING1):c.51+3A>G	SERPING1	Inborn genetic diseases|not provided	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1745353	1745353	002335998|003096615	1802406	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs1554994665	57365799	57365799	11q12.1	G	T	Likely pathogenic	NM_000062.3(SERPING1):c.51+5G>T	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/450500	450500	000522906	444834	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs886041353	57367351	57367351	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.52-1G>A	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/280064	280064	000329390	264611	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1565169419	57367355	57367355	11q12.1	A	T	Pathogenic	NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/619175	619175	000758137	610570	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367372	57367372	11q12.1	CA	C	Pathogenic	NM_000062.3(SERPING1):c.74del (p.Asn25fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299717	1299717	002221642	1289770	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1590822296	57367402	57367403	11q12.1	CAG	C	Pathogenic	NM_000062.3(SERPING1):c.106_107del (p.Ser36fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/626349	626349	000768688	614681	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs778625408	57367424	57367424	11q12.1	G	T	Pathogenic	NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/694737	694737	000856823	682856	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590822371	57367463	57367463	11q12.1	AT	A	Pathogenic	NM_000062.3(SERPING1):c.164del (p.Phe55fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817621	817621	001008802	805698	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1554994909	57367466	57367466	11q12.1	CG	C	Pathogenic	NM_000062.3(SERPING1):c.166del (p.Val56fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/503648	503648	000599141	495719	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367472	57367481	11q12.1	ACCCATCCTGG	A	Pathogenic	NM_000062.3(SERPING1):c.172_181del (p.Pro58fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299739	1299739	002221664	1289792	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1945329402	57367495	57367495	11q12.1	TG	T	Pathogenic	NM_000062.3(SERPING1):c.195del (p.Leu65fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/979213	979213	001258388	967292	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367495	57367496	11q12.1	G	GC	Pathogenic	NM_000062.3(SERPING1):c.197dup (p.Thr67fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299742	1299742	002221667	1289795	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57367521	57367521	11q12.1	C	A	Pathogenic	NM_000062.3(SERPING1):c.221C>A (p.Ser74Ter)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074911	1074911	001388357	1062380	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367529	57367529	11q12.1	A	T	Pathogenic	NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299743	1299743	002221668	1289796	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57367529	57367529	11q12.1	CA	C	Pathogenic	NM_000062.3(SERPING1):c.232del (p.Lys77_Ile78insTer)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299744	1299744	002221669	1289797	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57367560	57367561	11q12.1	C	CCACA	Pathogenic	NM_000062.3(SERPING1):c.263_266dup (p.Gln89fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2030864	2030864	002872020	2082367	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367600	57367612	11q12.1	TCCAACCCACCCAA	T	Pathogenic	NM_000062.3(SERPING1):c.305_317del (p.Pro102fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1460243	1460243	001951502	1493946	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1945331796	57367609	57367612	11q12.1	CCCAA	C	Pathogenic	NM_000062.3(SERPING1):c.314_317del (p.Pro105fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/979214	979214	001258389	967293	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367630	57367631	11q12.1	A	AC	Pathogenic	NM_000062.3(SERPING1):c.330_331insC (p.Thr111fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1329453	1329453	002250381	1320139	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1565169621	57367640	57367643	11q12.1	TCCTA	T	Pathogenic	NM_000062.3(SERPING1):c.342_345del (p.Thr115fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/626351	626351	000768690	614682	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367646	57367646	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/1683559	1683559	002244080	1675490	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590822588	57367647	57367647	11q12.1	CA	C	Pathogenic	NM_000062.3(SERPING1):c.347del (p.Gln116fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690353	690353	000851280	678026	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367676	57367676	11q12.1	AC	A	Pathogenic	NM_000062.3(SERPING1):c.377del (p.Pro126fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1690315	1690315	002463183	1682706	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57367700	57367700	11q12.1	G	T	Pathogenic	NM_000062.3(SERPING1):c.400G>T (p.Glu134Ter)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1460244	1460244	001951503	1493947	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590822719	57367788	57367799	11q12.1	GTGGAGACCAACA	G	Likely pathogenic	NM_000062.3(SERPING1):c.491_502del (p.Glu164_Met167del)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/633776	633776	000856829	622209	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590822739	57367805	57367805	11q12.1	CT	C	Pathogenic	NM_000062.3(SERPING1):c.508del (p.Ser170fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690354	690354	000851281	678027	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1064793350	57367812	57367812	11q12.1	C	T	Likely pathogenic	NM_000062.3(SERPING1):c.512C>T (p.Pro171Leu)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/418660	418660	000485353	408386	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367838	57367838	11q12.1	C	T	Likely pathogenic	NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299745	1299745	002221670	1289798	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs281875170	57367850	57367850	11q12.1	G	A	Pathogenic/Likely pathogenic	NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg)	SERPING1	not provided|Hereditary angioedema type 1	NA|106100	NA|100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/68253	68253	000059091|000768681	79144	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	NA	57367850	57367850	11q12.1	G	T	Likely pathogenic	NM_000062.3(SERPING1):c.550G>T (p.Gly184Trp)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2137092	2137092	003062379	1878095	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57367851	57367851	11q12.1	G	T	Pathogenic	NM_000062.3(SERPING1):c.550+1G>T	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299746	1299746	002221671	1289799	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57367852	57367852	11q12.1	T	C	Pathogenic	NM_000062.3(SERPING1):c.550+2T>C	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2137093	2137093	003058312	1878096	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57368540	57369895	11q12.1	TGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATTCCCAAGGAAGGCCCCCGACTCATCCTGCAAGTATCTTTCATCTCTGCCCTTTGTTGCAGGGGCTGGGGAGAACACCAAAACAAACCTGGAGAGCATCCTCTCTTACCCCAAGGACTTCACCTGTGTCCACCAGGCCCTGAAGGGCTTCACGACCAAAGGTGTCACCTCAGTCTCTCAGATCTTCCACAGCCCAGGTGAGTGCCCAGGAATGGGCAGTGTCTGCAGAGGAGGGTCCTGAGAGGACTCTGAAGGGGGACCCAGCGCTGGGGAAAGAAAGGACAGAGGGAATGTTGGAGCTACAGTATCAGGGATGGACTGCAGAGCAGGTGAAGACCTTGGCAGGAGCATTAGGTCACTCCAGGAACTAGACTGTTCTTCTAATGAGACCTTAGACAAGTCTCTGGCATTCATCAACTGCTTTAGAATAAAAATAACCGGGCAGGTACA	T	Pathogenic	NM_000062.3(SERPING1):c.550+745_685+308del	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/252941	252941	000508675	247342	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57369488	57369662	11q12.1	NA	NA	Likely pathogenic	NC_000011.9:g.(?_57369488)_(57369662_?)dup	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1346163	1346163	002050039	1378452	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57369488	57369662	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57369488)_(57369662_?)del	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1398002	1398002	001922467	1353201	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57369506	57369506	11q12.1	CA	C	Pathogenic	NM_000062.3(SERPING1):c.551-2del	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1490570	1490570	001983806	1433639	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57369507	57369507	11q12.1	G	A	Likely pathogenic	NM_000062.3(SERPING1):c.551-1G>A	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2430943	2430943	003129476	2404450	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57369507	57369507	11q12.1	G	C	Pathogenic	NM_000062.3(SERPING1):c.551-1G>C	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1382465	1382465	001890309	1434894	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57369523	57369523	11q12.1	C	A	Likely pathogenic	NM_000062.3(SERPING1):c.566C>A (p.Thr189Asn)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2137094	2137094	003037391	1878097	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1945353409	57369531	57369532	11q12.1	A	AACCTGGAG	Pathogenic	NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/979215	979215	001258390	967294	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1565170287	57369542	57369545	11q12.1	GCATC	G	Pathogenic	NM_000062.3(SERPING1):c.586_589del (p.Ile196fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/626356	626356	000768695	614683	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590823884	57369553	57369554	11q12.1	A	AC	Pathogenic	NM_000062.3(SERPING1):c.600dup (p.Lys201fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690350	690350	000851277	678028	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs121907951	57369554	57369554	11q12.1	C	G	Pathogenic	NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/3957	3957	000004163	18996	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57369571	57369571	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.614G>A (p.Cys205Tyr)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1457822	1457822	001956072	1471389	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1554995260	57369571	57369572	11q12.1	G	GT	Pathogenic	NM_000062.3(SERPING1):c.615dup (p.Val206fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/559595	559595	000677372	550316	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57369572	57369572	11q12.1	T	G	Likely pathogenic	NM_000062.3(SERPING1):c.615T>G (p.Cys205Trp)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1486970	1486970	002006113	1406827	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57369579	57369580	11q12.1	C	CA	Pathogenic	NM_000062.3(SERPING1):c.623dup (p.Ala209fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299747	1299747	002221672	1289800	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57369589	57369590	11q12.1	A	AG	Pathogenic	NM_000062.3(SERPING1):c.635dup (p.Phe213fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299718	1299718	002221643	1289771	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1554995271	57369603	57369603	11q12.1	A	TCAGTGTCGTG	Pathogenic	NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/487526	487526	000576891	480577	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57369628	57369630	11q12.1	ATCT	A	Pathogenic	NM_000062.3(SERPING1):c.673_675del (p.Phe225del)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299719	1299719	002221644	1289772	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1565170364	57369631	57369632	11q12.1	TC	AA	Pathogenic	NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/626350	626350	000768689	614684	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57369643	57369643	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.685+1G>A	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459234	1459234	001958903	1406361	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	NA	57369643	57369643	11q12.1	G	T	Pathogenic	NM_000062.3(SERPING1):c.685+1G>T	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1408660	1408660	001938110	1500326	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57369644	57369644	11q12.1	T	G	Pathogenic	NM_000062.3(SERPING1):c.685+2T>G	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459535	1459535	001963107	1484725	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373463	57374040	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57373463)_(57374040_?)del	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1398010	1398010	001912717	1353209	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373463	57382054	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57373463)_(57382054_?)del	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2422287	2422287	003119233	1942320	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1945404833	57373482	57373482	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.686-1G>A	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/979216	979216	001258391	967295	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373505	57373505	11q12.1	T	G	Likely pathogenic	NM_000062.3(SERPING1):c.708T>G (p.Phe236Leu)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299720	1299720	002221645	1289773	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57373527	57373528	11q12.1	T	TAC	Pathogenic	NM_000062.3(SERPING1):c.732_733dup (p.Ser245fs)	SERPING1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1758316	1758316	002380112	1822833	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373529	57373530	11q12.1	C	CAGCA	Pathogenic	NM_000062.3(SERPING1):c.733_736dup (p.Ser246fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299721	1299721	002221646	1289774	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57373545	57373546	11q12.1	AGT	A	Pathogenic	NM_000062.3(SERPING1):c.748_749del (p.Val250fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1329454	1329454	002250382	1320140	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1554995774	57373549	57373549	11q12.1	T	C	Likely pathogenic	NM_000062.3(SERPING1):c.752T>C (p.Leu251Pro)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/432141	432141	000497385	425934	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373575	57373576	11q12.1	G	GA	Pathogenic	NM_000062.3(SERPING1):c.779dup (p.Leu261fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299722	1299722	002221647	1289775	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57373581	57373582	11q12.1	A	AT	Pathogenic	NM_000062.3(SERPING1):c.785dup (p.Asn263fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299723	1299723	002221648	1289776	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1064793792	57373651	57373651	11q12.1	AC	A	Pathogenic	NM_000062.3(SERPING1):c.856del (p.Arg286fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/419322	419322	000482510	408388	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1057520366	57373668	57373668	11q12.1	A	C	Pathogenic/Likely pathogenic	NM_000062.3(SERPING1):c.871A>C (p.Asn291His)	SERPING1	not provided|Hereditary angioedema type 1	NA|106100	NA|100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/378573	378573	000423987|000768684	372234	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs1590826571	57373675	57373675	11q12.1	T	C	Likely pathogenic	NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690346	690346	000851273	678029	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373867	57373867	11q12.1	C	G	Likely pathogenic	NM_000062.3(SERPING1):c.890-14C>G	SERPING1	Hereditary angioedema type 1|Inborn genetic diseases|SERPING1-related condition	106100|NA|NA	100050|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064580	1064580	001374628|002377560|003394016	1052828	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	NA	57373888	57373888	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.897G>A (p.Trp299Ter)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2663363	2663363	003442551	2830812	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1945410259	57373893	57373893	11q12.1	AC	A	Pathogenic	NM_000062.3(SERPING1):c.902del (p.Thr301fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/979217	979217	001258392	967296	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1085307611	57373925	57373925	11q12.1	AC	A	Pathogenic	NM_000062.3(SERPING1):c.936del (p.His314fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/426410	426410	000489334	415278	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373932	57373933	11q12.1	A	ATC	Pathogenic	NM_000062.3(SERPING1):c.941_942insTC (p.Phe315fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299724	1299724	002221649	1289777	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57373941	57373942	11q12.1	A	AC	Pathogenic	NM_000062.3(SERPING1):c.951dup (p.Ser318fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299725	1299725	002221650	1289778	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1554995860	57373944	57373944	11q12.1	C	G	Pathogenic	NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/252942	252942	000508612	247344	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1945411643	57373970	57373971	11q12.1	AG	GTGCC	Likely pathogenic	NM_000062.3(SERPING1):c.979_980delinsGTGCC (p.Ser327delinsValPro)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/992328	992328	001280757	980253	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373974	57373975	11q12.1	AG	C	Pathogenic	NM_000062.3(SERPING1):c.983_984delinsC (p.Lys328fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299726	1299726	002221651	1289779	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1945411910	57373976	57373976	11q12.1	A	T	Pathogenic	NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/979218	979218	001258393	967297	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373976	57373976	11q12.1	GA	G	Pathogenic	NM_000062.3(SERPING1):c.986del (p.Lys329fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2120055	2120055	003059188	2176551	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57373985	57373985	11q12.1	TG	T	Pathogenic	NM_000062.3(SERPING1):c.994del (p.Val332fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1458857	1458857	001958710	1491205	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57374001	57374005	11q12.1	GACCAA	G	Pathogenic	NM_000062.3(SERPING1):c.1012_1016del (p.Gln338fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1452090	1452090	002035458	1438848	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1565171906	57374003	57374003	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/626348	626348	000768687	614685	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57374008	57374008	11q12.1	CT	C	Pathogenic	NM_000062.3(SERPING1):c.1019del (p.Thr339_Leu340insTer)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299727	1299727	002221652	1289780	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1945416520	57374404	57374404	11q12.1	A	G	Pathogenic	NM_000062.3(SERPING1):c.1029+384A>G	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/870445	870445	001090005	858613	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379194	57379194	11q12.1	G	A	Likely pathogenic	NM_000062.3(SERPING1):c.1034G>A (p.Gly345Glu)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2137099	2137099	003062380	1878102	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590829609	57379196	57379196	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690348	690348	000851275	678031	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590829616	57379196	57379210	11q12.1	GCAGCTGCAGCTCTCC	G	Likely pathogenic	NM_000062.3(SERPING1):c.1038_1052del (p.Gln346_Ser350del)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690358	690358	000851285	678032	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379209	57379209	11q12.1	TC	T	Pathogenic	NM_000062.3(SERPING1):c.1051del (p.His351fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299729	1299729	002221654	1289782	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57379222	57379222	11q12.1	GT	G	Pathogenic	NM_000062.3(SERPING1):c.1064del (p.Leu355fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2030262	2030262	002848352	2085609	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379231	57379231	11q12.1	TC	T	Pathogenic	NM_000062.3(SERPING1):c.1072del (p.Leu358fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1404535	1404535	001899034	1405296	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379241	57379241	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1081C>T (p.Gln361Ter)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2443257	2443257	003151649	2416977	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57379253	57379254	11q12.1	C	CA	Pathogenic	NM_000062.3(SERPING1):c.1094dup (p.His365fs)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299730	1299730	002221655	1289783	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57379260	57379260	11q12.1	T	G	Likely pathogenic	NM_000062.3(SERPING1):c.1100T>G (p.Leu367Arg)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299731	1299731	002221656	1289784	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1590829685	57379263	57379263	11q12.1	GA	G	Likely pathogenic	NM_000062.3(SERPING1):c.1104del (p.Asp369fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/692101	692101	000853399	679845	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1565173309	57379266	57379266	11q12.1	GA	G	Pathogenic	NM_000062.3(SERPING1):c.1106del (p.Asp369fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/626355	626355	000768694	614686	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1064793917	57379325	57379331	11q12.1	GTCCAAGT	G	Pathogenic	NM_000062.3(SERPING1):c.1169_1175del (p.Lys390fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/419503	419503	000482881	408389	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379334	57379334	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1174C>T (p.Gln392Ter)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1457609	1457609	001953847	1393550	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590829763	57379340	57379340	11q12.1	CA	C	Pathogenic	NM_000062.3(SERPING1):c.1180del (p.Thr394fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690356	690356	000851283	678033	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379345	57379345	11q12.1	TC	T	Pathogenic	NM_000062.3(SERPING1):c.1186del (p.Leu395_Leu396insTer)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299732	1299732	002221657	1289785	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1945480228	57379347	57379347	11q12.1	T	C	Likely pathogenic	NM_000062.3(SERPING1):c.1187T>C (p.Leu396Pro)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1000926	1000926	001297132	994572	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379347	57379347	11q12.1	T	G	Likely pathogenic	NM_000062.3(SERPING1):c.1187T>G (p.Leu396Arg)	SERPING1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1743852	1743852	002340540	1802196	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379352	57379352	11q12.1	C	G	Likely pathogenic	NM_000062.3(SERPING1):c.1192C>G (p.Leu398Val)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299733	1299733	002221658	1289786	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1945480328	57379353	57379353	11q12.1	T	C	Likely pathogenic	NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/976258	976258	001253494	964366	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379353	57379353	11q12.1	T	G	Likely pathogenic	NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299734	1299734	002221659	1289787	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57379355	57379355	11q12.1	C	G	Likely pathogenic	NM_000062.3(SERPING1):c.1195C>G (p.Pro399Ala)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1471299	1471299	001966714	1488370	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379356	57379356	11q12.1	C	G	Pathogenic	NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/2575091	2575091	003320016	2740027	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379356	57379356	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1196C>T (p.Pro399Leu)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1073879	1073879	001387009	1062381	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57379383	57379383	11q12.1	A	G	Likely pathogenic	NM_000062.3(SERPING1):c.1223A>G (p.Asp408Gly)	SERPING1	Inborn genetic diseases|not provided	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1753560	1753560	002361803|003103298	1807943	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs1945481508	57379393	57379394	11q12.1	A	ATC	Pathogenic	NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/979219	979219	001258394	967298	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1565173405	57379407	57379407	11q12.1	T	A	Pathogenic	NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/619176	619176	000758138	610571	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs755108467	57379409	57379409	11q12.1	G	T	Pathogenic/Likely pathogenic	NM_000062.3(SERPING1):c.1249G>T (p.Glu417Ter)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1013322	1013322	001311767	1000734	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs112565881	57379410	57379410	11q12.1	G	T	Pathogenic	NM_000062.3(SERPING1):c.1249+1G>T	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/3951	3951	000004157	18990	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57379411	57379411	11q12.1	T	C	Pathogenic	NM_000062.3(SERPING1):c.1249+2T>C	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299735	1299735	002221660	1289788	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381800	57381800	11q12.1	G	C	Pathogenic	NM_000062.3(SERPING1):c.1250-1G>C	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1453532	1453532	002002457	1428813	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1554996817	57381811	57381811	11q12.1	AT	A	Pathogenic	NM_000062.3(SERPING1):c.1264del (p.Ser422fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/3950	3950	000004156	18989	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1554996819	57381818	57381819	11q12.1	T	TA	Pathogenic	NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/3949	3949	000004155	18988	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381820	57381820	11q12.1	T	A	Pathogenic	NM_000062.3(SERPING1):c.1269T>A (p.Tyr423Ter)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1329455	1329455	002259399	1320141	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381834	57381834	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.1283G>A (p.Cys428Tyr)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459540	1459540	001975248	1484730	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57381840	57381840	11q12.1	T	G	Likely pathogenic	NM_000062.3(SERPING1):c.1289T>G (p.Leu430Arg)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299736	1299736	002221661	1289789	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381857	57381857	11q12.1	TC	T	Pathogenic	NM_000062.3(SERPING1):c.1306del (p.Leu436fs)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/3952	3952	000004158	18991	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381860	57381860	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1309C>T (p.Gln437Ter)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1694638	1694638	002262358	1687070	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590831385	57381892	57381893	11q12.1	G	GGAACTGAC	Pathogenic	NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690349	690349	000851276	678034	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57381893	57381893	11q12.1	G	T	Pathogenic	NM_000062.3(SERPING1):c.1342G>T (p.Glu448Ter)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2137103	2137103	003062382	1878106	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1554996833	57381901	57381902	11q12.1	CAG	C	Pathogenic/Likely pathogenic	NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs)	SERPING1	not provided|Hereditary angioedema type 1	NA|106100	NA|100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/503707	503707	000598998|000768685	495533	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs606231141	57381908	57381909	11q12.1	G	GTGT	Pathogenic	NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp)	SERPING1	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	NA	100051	http://www.ncbi.nlm.nih.gov/clinvar/variation/3954	3954	000004160	18993	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381909	57381942	11q12.1	GGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGT	G	Pathogenic	NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs)	SERPING1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1770819	1770819	002383476	1826519	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57381912	57381912	11q12.1	GT	G	Pathogenic	NM_000062.3(SERPING1):c.1361del (p.Val454fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1458527	1458527	001949529	1468238	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs121907949	57381912	57381912	11q12.1	T	A	Pathogenic	NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu)	SERPING1	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	NA	100051	http://www.ncbi.nlm.nih.gov/clinvar/variation/3953	3953	000004159	18992	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs121907947	57381923	57381923	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr)	SERPING1	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	NA	100051	http://www.ncbi.nlm.nih.gov/clinvar/variation/3945	3945	000004151	18984	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1590831432	57381924	57381924	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690357	690357	000851284	678035	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57381929	57381929	11q12.1	T	C	Likely pathogenic	NM_000062.3(SERPING1):c.1378T>C (p.Ser460Pro)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1406687	1406687	001906971	1486745	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57381930	57381930	11q12.1	C	G	Likely pathogenic	NM_000062.3(SERPING1):c.1379C>G (p.Ser460Cys)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299737	1299737	002221662	1289790	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs763451792	57381936	57381936	11q12.1	T	G	Pathogenic	NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/487524	487524	000576893	480575	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs121907950	57381945	57381945	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1394C>T (p.Ala465Val)	SERPING1	Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/3955	3955	000004161	18994	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs28940870	57381947	57381947	11q12.1	C	A	Pathogenic	NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser)	SERPING1	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor|not provided	NA|NA	100051|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/3948	3948	000004154|000059083	18987	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs28940870	57381947	57381947	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys)	SERPING1	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor|not provided|Hereditary angioedema type 1	NA|NA|106100	100051|NA|100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/3947	3947	000004153|000059084|000768683	18986	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs121907948	57381948	57381948	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)	SERPING1	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor|not provided|Hereditary angioedema type 1|Inborn genetic diseases|Hereditary angioedema type 1;C1 inhibitor deficiency	NA|NA|106100|NA|106100;120790	100051|NA|100050|NA|100050;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/3946	3946	000004152|000433404|000768682|002390090|002482825	18985	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs121907948	57381948	57381948	11q12.1	G	C	Pathogenic	NM_000062.3(SERPING1):c.1397G>C (p.Arg466Pro)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/426171	426171	000490187	415280	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs121907948	57381948	57381948	11q12.1	G	T	Likely pathogenic	NM_000062.3(SERPING1):c.1397G>T (p.Arg466Leu)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/68247	68247	000059085	79138	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590831492	57381960	57381960	11q12.1	GT	G	Likely pathogenic	NM_000062.3(SERPING1):c.1409del (p.Val470fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817083	817083	001008176	805699	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs956390201	57381968	57381968	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.1417G>A (p.Val473Met)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690355	690355	000851282	678036	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1565174105	57381971	57381971	11q12.1	C	T	Pathogenic/Likely pathogenic	NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter)	SERPING1	Hereditary angioedema type 1|not provided	106100|NA	100050|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/626354	626354	000768693|001855976	614687	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	NA	57381973	57381973	11q12.1	G	C	Likely pathogenic	NM_000062.3(SERPING1):c.1422G>C (p.Gln474His)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299738	1299738	002221663	1289791	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381975	57381975	11q12.1	A	C	Likely pathogenic	NM_000062.3(SERPING1):c.1424A>C (p.Gln475Pro)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299740	1299740	002221665	1289793	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381976	57381976	11q12.1	G	T	Likely pathogenic	NM_000062.3(SERPING1):c.1425G>T (p.Gln475His)	SERPING1	Hereditary angioedema with C1Inh deficiency	NA	528623	http://www.ncbi.nlm.nih.gov/clinvar/variation/1299741	1299741	002221666	1289794	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57381980	57381980	11q12.1	T	C	Pathogenic	NM_000062.3(SERPING1):c.1429T>C (p.Phe477Leu)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1438889	1438889	001949095	1448613	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1590831545	57381997	57381997	11q12.1	G	A	Pathogenic	NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter)	SERPING1	Hereditary angioedema type 1	106100	100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/690351	690351	000851278	678037	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57382001	57382001	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter)	SERPING1	C1 inhibitor deficiency;Hereditary angioedema type 1	120790;106100	NA;100050	http://www.ncbi.nlm.nih.gov/clinvar/variation/1675130	1675130	002208779	1666447	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1554996859	57382009	57382016	11q12.1	CAAGTTCC	A	Likely pathogenic	NM_000062.3(SERPING1):c.1458_1465delinsA (p.His486fs)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/451253	451253	000521406	444837	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs978962357	57382026	57382026	11q12.1	T	C	Likely pathogenic	NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr)	SERPING1	Angioedema	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/427759	427759	000490705	417648	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs922149386	57382031	57382031	11q12.1	C	T	Pathogenic	NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter)	SERPING1	Hereditary angioedema type 1|not provided|SERPING1-related condition	106100|NA|NA	100050|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/626347	626347	000768686|001008644|003392582	614688	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	NA	57382032	57382032	11q12.1	G	A	Likely pathogenic	NM_000062.3(SERPING1):c.1481G>A (p.Arg494Gln)	SERPING1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1477674	1477674	001971708	1436553	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57382044	57382044	11q12.1	C	T	Likely pathogenic	NM_000062.3(SERPING1):c.1493C>T (p.Pro498Leu)	SERPING1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1773829	1773829	002389746	1830335	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57427003	57427003	11q12.1	C	T	Likely pathogenic	NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)	CLP1	Pontoneocerebellar hypoplasia	NA	98523	http://www.ncbi.nlm.nih.gov/clinvar/variation/1804783	1804783	002470080	1861798	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs587777616	57427367	57427367	11q12.1	G	A	Pathogenic/Likely pathogenic	NM_006831.3(CLP1):c.419G>A (p.Arg140His)	CLP1	Pontocerebellar hypoplasia type 10|not provided	615803|NA	411493|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/143934	143934	000133463|000658593	153655	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	NA	57471510	57564464	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57471510)_(57564464_?)del	CTNND1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074254	1074254	001387479	1057553	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs145634348	57480247	57480247	11q12.1	C	T	Pathogenic	NM_015959.4(TMX2):c.157C>T (p.Arg53Cys)	TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	618730	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/804371	804371	000991348	792708	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1398376742	57480254	57480254	11q12.1	A	C	Pathogenic	NM_015959.4(TMX2):c.164A>C (p.Asp55Ala)	TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	618730	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/804367	804367	000991344	792704	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs367990143	57480256	57480256	11q12.1	G	C	Pathogenic	NM_015959.4(TMX2):c.166G>C (p.Gly56Arg)	TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	618730	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/804373	804373	000991350	792710	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1274824614	57505845	57505846	11q12.1	A	AC	Pathogenic	NM_015959.4(TMX2):c.391dup (p.Leu131fs)	TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	618730	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/804368	804368	000991345	792705	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1209396791	57506505	57506525	11q12.1	AGTACGCGGTATGTAAAGACCT	A	Pathogenic	NM_015959.4(TMX2):c.609_614+15del	TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	618730	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/804372	804372	000991349	792709	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs377715702	57506510	57506510	11q12.1	C	T	Likely pathogenic	NM_015959.4(TMX2):c.613C>T (p.Arg205Trp)	TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	618730	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1030429	1030429	001331969	1017466	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs370455806	57506511	57506511	11q12.1	G	A	Pathogenic/Likely pathogenic	NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)	TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity|Abnormality of the nervous system|not provided	618730|NA|NA	NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/804370	804370	000991347|001814248|002245822	792707	criteria provided, multiple submitters, no conflicts
rs632052	chr11	57194319	58194319	rs752744834	57507583	57507583	11q12.1	C	T	Pathogenic	NM_015959.4(TMX2):c.757C>T (p.Arg253Ter)	TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	618730	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/804369	804369	000991346	792706	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57558951	57583780	11q12.1	NA	NA	Pathogenic	NC_000011.9:g.(?_57558951)_(57583780_?)del	CTNND1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074253	1074253	001387478	1057554	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57564014	57564014	11q12.1	C	G	Likely pathogenic	NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2412720	2412720	002810037	2401450	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57564069	57564070	11q12.1	T	TG	Pathogenic	NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2446376	2446376	003157999	2419798	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1555053981	57564113	57564113	11q12.1	CT	C	Pathogenic	NM_001085458.2(CTNND1):c.606del (p.Pro203fs)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/438817	438817	000505783	432448	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs2061409627	57564445	57564446	11q12.1	TGA	T	Pathogenic	NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs)	CTNND1	Cleft lip with or without cleft palate	NA	1991	http://www.ncbi.nlm.nih.gov/clinvar/variation/834013	834013	001034558	818768	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs2062048292	57569255	57569255	11q12.1	G	A	Pathogenic	NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter)	CTNND1	Cleft lip with or without cleft palate	NA	1991	http://www.ncbi.nlm.nih.gov/clinvar/variation/834012	834012	001034556	818769	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57569278	57569278	11q12.1	C	T	Likely pathogenic	NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1343238	1343238	001843838	1334883	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1555057567	57569336	57569336	11q12.1	G	A	Pathogenic	NM_001085458.2(CTNND1):c.1088G>A (p.Trp363Ter)	CTNND1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/523857	523857	000627330	514627	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1555057581	57569341	57569341	11q12.1	C	T	Pathogenic	NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/438816	438816	000505753	432447	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57569428	57569428	11q12.1	T	C	Likely pathogenic	NM_001085458.2(CTNND1):c.1180T>C (p.Cys394Arg)	CTNND1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1306850	1306850	001771030	1295799	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57569629	57569629	11q12.1	C	T	Pathogenic	NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)	CTNND1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2505972	2505972	003236204	2670936	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57571123	57571123	11q12.1	C	G	Pathogenic	NM_001085458.2(CTNND1):c.1451C>G (p.Ser484Ter)	CTNND1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1801206	1801206	002462803	1858493	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs1314067686	57571168	57571168	11q12.1	A	G	Likely pathogenic	NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly)	CTNND1	Cleft lip with or without cleft palate	NA	1991	http://www.ncbi.nlm.nih.gov/clinvar/variation/834015	834015	001034560	818770	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs2062434410	57572217	57572217	11q12.1	C	T	Likely pathogenic	NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/931457	931457	001198014	919368	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs780642639	57573381	57573381	11q12.1	C	T	Likely pathogenic	NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp)	CTNND1	Cleft lip with or without cleft palate	NA	1991	http://www.ncbi.nlm.nih.gov/clinvar/variation/834017	834017	001034562	818774	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57573384	57573384	11q12.1	GA	G	Pathogenic	NM_001085458.2(CTNND1):c.1754del (p.Asn585fs)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322171	1322171	001780590	1312486	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs2062949363	57575761	57575761	11q12.1	G	T	Likely pathogenic	NM_001085458.2(CTNND1):c.2088G>T (p.Trp696Cys)	CTNND1	Cleft lip with or without cleft palate	NA	1991	http://www.ncbi.nlm.nih.gov/clinvar/variation/834018	834018	001034563	818775	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1277132301	57575868	57575868	11q12.1	C	T	Pathogenic	NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/438815	438815	000505713	432446	no assertion criteria provided
rs632052	chr11	57194319	58194319	NA	57576003	57576003	11q12.1	G	T	Likely pathogenic	NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter)	CTNND1	Blepharocheilodontic syndrome 2	617681	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1333575	1333575	001808263	1324346	criteria provided, single submitter
rs632052	chr11	57194319	58194319	NA	57576892	57576892	11q12.1	C	T	Pathogenic	NM_001085458.2(CTNND1):c.2389C>T (p.Arg797Ter)	CTNND1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1300537	1300537	001732472	1290820	criteria provided, single submitter
rs632052	chr11	57194319	58194319	rs2063072465	57576939	57576939	11q12.1	G	T	Pathogenic	NM_001085458.2(CTNND1):c.2435+1G>T	CTNND1	Cleft lip with or without cleft palate	NA	1991	http://www.ncbi.nlm.nih.gov/clinvar/variation/834014	834014	001034559	822288	no assertion criteria provided
rs632052	chr11	57194319	58194319	rs1591672193	57578892	57578892	11q12.1	C	T	Likely pathogenic	NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)	CTNND1	Blepharocheilodontic syndrome 2|Cleft lip with or without cleft palate	617681|NA	NA|1991	http://www.ncbi.nlm.nih.gov/clinvar/variation/800854	800854	000985038|001034557	788851	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	60231823	60231824	11q12.2	TA	GACATATGGTT	Pathogenic	NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT	MS4A1	Immunodeficiency, common variable, 5	613495	1572	http://www.ncbi.nlm.nih.gov/clinvar/variation/17705	17705	000019279	32744	no assertion criteria provided
rs630671	chr11	60205837	61205837	NA	60637319	60637319	11q12.2	C	T	Pathogenic	NM_207341.4(ZP1):c.628C>T (p.Gln210Ter)	ZP1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2065331	2065331	002958392	2121891	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs769509601	60637891	60637891	11q12.2	C	T	Pathogenic	NM_207341.4(ZP1):c.769C>T (p.Gln257Ter)	ZP1	Oocyte maturation defect 3	617712	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/695115	695115	001095369	683219	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs587777362	60640688	60640695	11q12.2	TCCATTTTC	T	Pathogenic	NM_207341.4(ZP1):c.1169_1176del (p.Ile390fs)	ZP1	Female infertility due to zona pellucida defect	615774	404466	http://www.ncbi.nlm.nih.gov/clinvar/variation/127200	127200	000115029	132683	no assertion criteria provided
rs630671	chr11	60205837	61205837	rs1590594352	60640690	60640690	11q12.2	CA	C	Likely pathogenic	NM_207341.4(ZP1):c.1168del (p.Ile390fs)	ZP1	Female infertility due to zona pellucida defect	615774	404466	http://www.ncbi.nlm.nih.gov/clinvar/variation/812693	812693	001250894	800944	no assertion criteria provided
rs630671	chr11	60205837	61205837	rs1590594990	60641038	60641038	11q12.2	G	T	Pathogenic	NM_207341.4(ZP1):c.1430+1G>T	ZP1	Female infertility due to zona pellucida defect	615774	404466	http://www.ncbi.nlm.nih.gov/clinvar/variation/689405	689405	000850119	676997	no assertion criteria provided
rs630671	chr11	60205837	61205837	rs763617076	60642655	60642655	11q12.2	G	A	Pathogenic	NM_207341.4(ZP1):c.1708G>A (p.Val570Met)	ZP1	Female infertility due to zona pellucida defect	615774	404466	http://www.ncbi.nlm.nih.gov/clinvar/variation/689404	689404	000850118	676996	no assertion criteria provided
rs630671	chr11	60205837	61205837	rs1307369466	60642979	60642979	11q12.2	T	C	Pathogenic	NM_207341.4(ZP1):c.1775-8T>C	ZP1	Female infertility due to zona pellucida defect	615774	404466	http://www.ncbi.nlm.nih.gov/clinvar/variation/689406	689406	000850120	676998	no assertion criteria provided
rs630671	chr11	60205837	61205837	rs537353127	61040737	61040737	11q12.2	G	A	Pathogenic	NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter)	VWCE	Short stature	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/599545	599545	000736183	590871	no assertion criteria provided
rs630671	chr11	60205837	61205837	NA	61083980	61083980	11q12.2	A	C	Pathogenic	NM_001923.5(DDB1):c.1285T>G (p.Phe429Val)	DDB1	White-Kernohan syndrome	619426	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1183958	1183958	001541894	1173660	no assertion criteria provided
rs630671	chr11	60205837	61205837	NA	61094278	61094278	11q12.2	C	T	Likely pathogenic	NM_001923.5(DDB1):c.637G>A (p.Glu213Lys)	DDB1	White-Kernohan syndrome	619426	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1183957	1183957	001541893	1173659	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61094352	61094352	11q12.2	C	T	Pathogenic	NM_001923.5(DDB1):c.563G>A (p.Arg188Gln)	DDB1	White-Kernohan syndrome	619426	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1183956	1183956	001541892	1173658	no assertion criteria provided
rs630671	chr11	60205837	61205837	NA	61097043	61097043	11q12.2	C	T	Likely pathogenic	NM_001923.5(DDB1):c.341G>A (p.Arg114His)	DDB1	Neurodevelopmental delay	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1700082	1700082	002274331	1692478	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs1590578831	61112824	61112824	11q12.2	G	A	Likely pathogenic	NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser)	TKFC	Triokinase and FMN cyclase deficiency syndrome|TKFC deficiency;Inborn errors of metabolism	618805|NA;NA	NA|NA;68367	http://www.ncbi.nlm.nih.gov/clinvar/variation/816700	816700	001007643|001030069	804906	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs547013163	61113875	61113875	11q12.2	G	T	Likely pathogenic	NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)	TKFC	Triokinase and FMN cyclase deficiency syndrome|TKFC deficiency;Inborn errors of metabolism	618805|NA;NA	NA|NA;68367	http://www.ncbi.nlm.nih.gov/clinvar/variation/816699	816699	001007642|001030070	804905	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61131927	61131930	11q12.2	CTCTT	C	Likely pathogenic	NM_016464.5(TMEM138):c.66_69del (p.Phe23fs)	TMEM138	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2498514	2498514	003222723	2476491	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61131945	61131945	11q12.2	TC	T	Pathogenic	NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/1424816	1424816	001924057	1353323	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61131956	61131956	11q12.2	C	T	Pathogenic	NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/1458178	1458178	001956237	1467893	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61131991	61135394	11q12.2	NA	NA	Likely pathogenic	NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del	TMEM138	Joubert syndrome and related disorders	NA	140874	http://www.ncbi.nlm.nih.gov/clinvar/variation/2501221	2501221	003226818	2524112	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs917404097	61131995	61131995	11q12.2	G	A	Pathogenic/Likely pathogenic	NM_016464.5(TMEM138):c.128+5G>A	TMEM138	Joubert syndrome 16|Joubert syndrome and related disorders	614465|NA	2318|140874	http://www.ncbi.nlm.nih.gov/clinvar/variation/31187	31187	000024186|002271376	40144	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	NA	61133497	61133708	11q12.2	NA	NA	Pathogenic	NC_000011.9:g.(?_61133497)_(61133708_?)del	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/1460234	1460234	001951499	1493937	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs886039804	61133522	61133522	11q12.2	A	G	Likely pathogenic	NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)	TMEM138	Meckel-Gruber syndrome	NA	564	http://www.ncbi.nlm.nih.gov/clinvar/variation/266092	266092	000256454	260910	no assertion criteria provided
rs630671	chr11	60205837	61205837	rs387907132	61133675	61133675	11q12.2	A	G	Pathogenic/Likely pathogenic	NM_016464.5(TMEM138):c.287A>G (p.His96Arg)	TMEM138	not provided|Joubert syndrome 16	NA|614465	NA|2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/31188	31188	000423402|000024187	40145	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	NA	61135399	61135400	11q12.2	T	TAC	Likely pathogenic	NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/1505578	1505578	001999542	1437145	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61135399	61135400	11q12.2	T	TA	Pathogenic	NM_016464.5(TMEM138):c.306dup (p.Arg103fs)	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/2018227	2018227	002830180	2072311	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61135401	61135401	11q12.2	AC	A	Pathogenic/Likely pathogenic	NM_016464.5(TMEM138):c.307del (p.Arg103fs)	TMEM138	Joubert syndrome 16|not provided	614465|NA	2318|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2046391	2046391	002913653|003222448	2096525	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	NA	61135405	61135405	11q12.2	G	A	Pathogenic	NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/1982443	1982443	002785471	2039003	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs387907134	61135470	61135470	11q12.2	G	A	Pathogenic	NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/31190	31190	000024189	40147	no assertion criteria provided
rs630671	chr11	60205837	61205837	rs774110963	61136066	61136066	11q12.2	C	G	Pathogenic	NM_016464.5(TMEM138):c.377-3C>G	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/917959	917959	001175226	906286	no assertion criteria provided
rs630671	chr11	60205837	61205837	rs387907133	61136072	61136072	11q12.2	C	T	Pathogenic	NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)	TMEM138	Joubert syndrome 16	614465	2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/31189	31189	000024188	40146	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61160094	61161458	11q12.2	NA	NA	Pathogenic	NC_000011.9:g.(?_61160094)_(61161458_?)del	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/2423925	2423925	003105619	1942803	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs1057517498	61160139	61160139	11q12.2	T	C	Likely pathogenic	NM_001173990.3(TMEM216):c.34+2T>C	TMEM216	Meckel syndrome, type 2|Joubert syndrome 2|Familial aplasia of the vermis|Meckel syndrome, type 2;Joubert syndrome 2	603194|608091|NA|603194;608091	564|2318|475|564;2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/371740	371740	000409881|000411402|001053497|002502435	357972	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs1057520085	61160688	61160702	11q12.2	TGTGCTCCTTTTTCAG	T	Likely pathogenic	NM_001173990.3(TMEM216):c.35-13_36del	TMEM216	not provided|Joubert syndrome 2|Familial aplasia of the vermis	NA|608091|NA	NA|2318|475	http://www.ncbi.nlm.nih.gov/clinvar/variation/376902	376902	000436026|001828393|001851024	363780	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs1057517528	61160701	61160701	11q12.2	A	G	Likely pathogenic	NM_001173990.3(TMEM216):c.35-2A>G	TMEM216	Meckel syndrome, type 2|Joubert syndrome 2|Familial aplasia of the vermis	603194|608091|NA	564|2318|475	http://www.ncbi.nlm.nih.gov/clinvar/variation/371778	371778	000409368|000410496|002524628	357973	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	NA	61160702	61160702	11q12.2	G	A	Likely pathogenic	NM_001173990.3(TMEM216):c.35-1G>A	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1469730	1469730	001995030	1475678	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs1565088283	61160734	61160734	11q12.2	TC	T	Pathogenic	NM_001173990.3(TMEM216):c.67del (p.Leu23fs)	TMEM216	not provided|Familial aplasia of the vermis	NA|NA	NA|475	http://www.ncbi.nlm.nih.gov/clinvar/variation/591162	591162	000722339|002535030	582156	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61160741	61160741	11q12.2	CT	C	Pathogenic	NM_001173990.3(TMEM216):c.75del (p.Phe25_Leu26insTer)	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459081	1459081	001958831	1406210	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61160755	61160755	11q12.2	G	A	Pathogenic	NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter)	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1073194	1073194	001386110	1062384	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61160784	61160785	11q12.2	CTT	C	Pathogenic	NM_001173990.3(TMEM216):c.118_119del (p.Phe40fs)	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1418959	1418959	001954494	1390519	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61161346	61165758	11q12.2	NA	NA	Likely pathogenic	NC_000011.10:g.(?_61393874)_(61398286_?)del	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/831692	831692	001032233	820389	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61161354	61161354	11q12.2	A	G	Likely pathogenic	NM_001173990.3(TMEM216):c.137-2A>G	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1066361	1066361	001377336	1056023	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs1554972547	61161355	61161355	11q12.2	G	A	Likely pathogenic	NM_001173990.3(TMEM216):c.137-1G>A	TMEM216	Familial aplasia of the vermis|Meckel syndrome, type 2;Joubert syndrome 2	NA|603194;608091	475|564;2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/558218	558218	000810263|001787350	546462	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs1554972556	61161380	61161384	11q12.2	GCTAAC	G	Likely pathogenic	NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)	TMEM216	Meckel syndrome, type 2;Joubert syndrome 2	603194;608091	564;2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/551831	551831	001787340	546686	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61161410	61161410	11q12.2	CT	C	Pathogenic	NM_001173990.3(TMEM216):c.191del (p.Leu64fs)	TMEM216	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1176283	1176283	001531733	1166001	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs201108965	61161437	61161437	11q12.2	G	A	Pathogenic	NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	TMEM216	Joubert syndrome 2|Meckel syndrome, type 2|Familial aplasia of the vermis	608091|603194|NA	2318|564|475	http://www.ncbi.nlm.nih.gov/clinvar/variation/198	198	000000221|000024013|001038780	15237	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs201108965	61161437	61161437	11q12.2	G	T	Pathogenic	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	TMEM216	Joubert syndrome 2|not provided|Meckel syndrome, type 2|Familial aplasia of the vermis|Inborn genetic diseases|TMEM216-Related Disorders|Meckel syndrome, type 2;Joubert syndrome 2	608091|NA|603194|NA|NA|NA|603194;608091	2318|NA|564|475|NA|NA|564;2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/197	197	000000220|000255378|000409114|000465185|000624413|000779066|001787358	15236	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs1057517512	61161441	61161441	11q12.2	TG	T	Likely pathogenic	NM_001173990.3(TMEM216):c.222del (p.Phe76fs)	TMEM216	Meckel syndrome, type 2|Joubert syndrome 2|not provided	603194|608091|NA	564|2318|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/371759	371759	000411381|000412090|003129853	357974	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs767384710	61161441	61161442	11q12.2	G	GT	Pathogenic/Likely pathogenic	NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)	TMEM216	Joubert syndrome 2|Meckel syndrome, type 2|Familial aplasia of the vermis	608091|603194|NA	2318|564|475	http://www.ncbi.nlm.nih.gov/clinvar/variation/371710	371710	000410198|000412190|002523886	357976	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs767384710	61161442	61161442	11q12.2	GT	G	Likely pathogenic	NM_001173990.3(TMEM216):c.228del (p.Phe76fs)	TMEM216	Joubert syndrome 2|Meckel syndrome, type 2	608091|603194	2318|564	http://www.ncbi.nlm.nih.gov/clinvar/variation/371763	371763	000410191|000412251	357975	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61161449	61161449	11q12.2	G	A	Likely pathogenic	NM_001173990.3(TMEM216):c.229+1G>A	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1494212	1494212	001987076	1349955	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61161449	61161449	11q12.2	G	T	Likely pathogenic	NM_001173990.3(TMEM216):c.229+1G>T	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1951208	1951208	002685979	2013938	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs1211592806	61165244	61165244	11q12.2	A	G	Likely pathogenic	NM_001173990.3(TMEM216):c.230-2A>G	TMEM216	Familial aplasia of the vermis|Joubert syndrome 2;Meckel syndrome, type 2	NA|608091;603194	475|2318;564	http://www.ncbi.nlm.nih.gov/clinvar/variation/961772	961772	001235530|002480768	959993	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs386833830	61165246	61165246	11q12.2	G	C	Pathogenic/Likely pathogenic	NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala)	TMEM216	Meckel syndrome, type 2	603194	564	http://www.ncbi.nlm.nih.gov/clinvar/variation/200	200	000000223	15239	no assertion criteria provided
rs630671	chr11	60205837	61205837	NA	61165265	61165265	11q12.2	C	A	Pathogenic	NM_001173990.3(TMEM216):c.249C>A (p.Cys83Ter)	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075309	1075309	001388868	1062385	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61165266	61165266	11q12.2	C	T	Pathogenic	NM_001173990.3(TMEM216):c.250C>T (p.Gln84Ter)	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1970889	1970889	002735620	2025729	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs11230683	61165269	61165269	11q12.2	C	T	Pathogenic/Likely pathogenic	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	TMEM216	Meckel syndrome, type 2|Joubert syndrome 2|not provided|TMEM216-Related Disorders|Familial aplasia of the vermis|Meckel syndrome, type 2;Joubert syndrome 2|TMEM216-related condition	603194|608091|NA|NA|NA|603194;608091|NA	564|2318|NA|NA|475|564;2318|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/56384	56384	000049797|000201650|000760437|000779067|000822982|001787335|003398640	71023	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs1554972958	61165332	61165333	11q12.2	T	TTA	Likely pathogenic	NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)	TMEM216	Meckel syndrome, type 2;Joubert syndrome 2	603194;608091	564;2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/558417	558417	001787351	546321	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61165341	61165342	11q12.2	C	CT	Likely pathogenic	NM_001173990.3(TMEM216):c.326dup (p.Gln110fs)	TMEM216	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2281809	2281809	002830899	2263849	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61165344	61165344	11q12.2	C	T	Pathogenic	NM_001173990.3(TMEM216):c.328C>T (p.Gln110Ter)	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/2023018	2023018	002875745	2087340	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs147267631	61165352	61165352	11q12.2	C	A	Likely pathogenic	NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)	TMEM216	Meckel syndrome, type 2;Joubert syndrome 2	603194;608091	564;2318	http://www.ncbi.nlm.nih.gov/clinvar/variation/554706	554706	001787343	546327	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs386833831	61165357	61165357	11q12.2	T	G	Pathogenic/Likely pathogenic	NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg)	TMEM216	Meckel syndrome, type 2	603194	564	http://www.ncbi.nlm.nih.gov/clinvar/variation/199	199	000000222	15238	no assertion criteria provided
rs630671	chr11	60205837	61205837	NA	61165375	61165376	11q12.2	T	TG	Pathogenic	NM_001173990.3(TMEM216):c.360dup (p.Asn121fs)	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/2086704	2086704	003007617	2140745	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61165389	61165390	11q12.2	C	CA	Pathogenic	NM_001173990.3(TMEM216):c.373_374insA (p.Leu125fs)	TMEM216	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/1070704	1070704	001382952	1062386	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs755459875	61165414	61165414	11q12.2	T	G	Pathogenic/Likely pathogenic	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	TMEM216	Joubert syndrome 2|not provided|Familial aplasia of the vermis|Joubert syndrome 2;Meckel syndrome, type 2	608091|NA|NA|608091;603194	2318|NA|475|2318;564	http://www.ncbi.nlm.nih.gov/clinvar/variation/217704	217704	000201555|000443367|001853240|002503792	214311	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	NA	61197619	61552680	11q12.2	NA	NA	Pathogenic	NC_000011.9:g.(?_61197619)_(61552680_?)del	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/2426363	2426363	003119804	1951765	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61197650	61197650	11q12.2	C	A	Pathogenic	NM_017841.4(SDHAF2):c.32C>A (p.Ser11Ter)	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/2158448	2158448	003069774	1883430	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61197655	61197655	11q12.2	G	A	Likely pathogenic	NM_017841.4(SDHAF2):c.36+1G>A	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/2020736	2020736	002857503	2079920	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205087	61213543	11q12.2	NA	NA	Likely pathogenic	NC_000011.9:g.(?_61205087)_(61213543_?)del	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067840	1067840	001379209	1054521	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205095	61205095	11q12.2	A	G	Likely pathogenic	NM_017841.4(SDHAF2):c.37-2A>G	SDHAF2	Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome	NA|NA	29072|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1068054	1068054	001379490|002357285	1056024	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs761956866	61205096	61205096	11q12.2	G	C	Pathogenic/Likely pathogenic	NM_017841.4(SDHAF2):c.37-1G>C	SDHAF2	not provided|Hereditary pheochromocytoma-paraganglioma|Paragangliomas 2|Hereditary cancer-predisposing syndrome	NA|NA|601650|NA	NA|29072|29072|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/806678	806678	000994638|001238114|001784526|002346199	796604	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs1862009020	61205098	61205101	11q12.2	ATGCT	A	Likely pathogenic	NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs)	SDHAF2	Paragangliomas 2	601650	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/982784	982784	001262451	970938	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205149	61205149	11q12.2	C	G	Pathogenic	NM_017841.4(SDHAF2):c.89C>G (p.Ser30Ter)	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/2018877	2018877	002846684	2069113	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205184	61205184	11q12.2	AG	A	Pathogenic	NM_017841.4(SDHAF2):c.124del (p.Asp42fs)	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/1069215	1069215	001381014	1062387	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205190	61205190	11q12.2	C	T	Pathogenic	NM_017841.4(SDHAF2):c.130C>T (p.Gln44Ter)	SDHAF2	not provided|Hereditary pheochromocytoma-paraganglioma	NA|NA	NA|29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/1210770	1210770	001581492|001866107	1200768	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs1554984631	61205236	61205237	11q12.2	C	CT	Pathogenic	NM_017841.4(SDHAF2):c.177dup (p.Asp60Ter)	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/532513	532513	000639343	526779	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205248	61205249	11q12.2	T	TA	Pathogenic	NM_017841.4(SDHAF2):c.189dup (p.Glu64fs)	SDHAF2	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1782242	1782242	002408197	1842626	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs1590764868	61205260	61205261	11q12.2	G	GAGCCC	Pathogenic	NM_017841.4(SDHAF2):c.201_205dup (p.Arg69fs)	SDHAF2	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/820509	820509	001014030	810777	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205276	61205276	11q12.2	T	A	Pathogenic	NM_017841.4(SDHAF2):c.216T>A (p.Tyr72Ter)	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/1441880	1441880	001950745	1381954	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205287	61205288	11q12.2	AAG	A	Pathogenic	NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/1452374	1452374	001999776	1364095	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205290	61205290	11q12.2	AG	A	Pathogenic	NM_017841.4(SDHAF2):c.233del (p.Gly78fs)	SDHAF2	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2625581	2625581	003380340	2787564	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs113560320	61205292	61205292	11q12.2	G	A	Pathogenic	NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)	SDHAF2	Paragangliomas 2|Hereditary cancer-predisposing syndrome|not provided|Hereditary pheochromocytoma-paraganglioma	601650|NA|NA|NA	29072|140162|NA|29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/401	401	000000428|000165971|000519058|000639339	15440	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs1590764905	61205293	61205293	11q12.2	G	A	Likely pathogenic	NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu)	SDHAF2	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/821122	821122	001015230	810779	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs749527870	61205321	61205321	11q12.2	G	A	Likely pathogenic	NM_017841.4(SDHAF2):c.260+1G>A	SDHAF2	Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome	NA|NA	29072|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/463821	463821	000526730|002431596	461725	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	NA	61205322	61205322	11q12.2	T	C	Likely pathogenic	NM_017841.4(SDHAF2):c.260+2T>C	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067722	1067722	001379058	1056025	criteria provided, single submitter
rs630671	chr11	60205837	61205837	rs745989557	61205474	61205474	11q12.2	A	T	Likely pathogenic	NM_017841.4(SDHAF2):c.261-2A>T	SDHAF2	Hereditary pheochromocytoma-paraganglioma	NA	29072	http://www.ncbi.nlm.nih.gov/clinvar/variation/660908	660908	000818208	652214	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205477	61205478	11q12.2	C	CT	Pathogenic	NM_017841.4(SDHAF2):c.267dup (p.Ala90fs)	SDHAF2	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1794666	1794666	002428891	1852411	criteria provided, single submitter
rs630671	chr11	60205837	61205837	NA	61205478	61205478	11q12.2	CT	C	Pathogenic	NM_017841.4(SDHAF2):c.267del (p.Phe89fs)	SDHAF2	Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome	NA|NA	29072|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1451128	1451128	001993114|002441101	1429383	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	NA	61205498	61205498	11q12.2	C	T	Pathogenic	NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter)	SDHAF2	Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome	NA|NA	29072|140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/2070423	2070423	002971134|003308381	2119656	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	rs750979204	61205530	61205530	11q12.2	T	A	Pathogenic/Likely pathogenic	NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)	SDHAF2	Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|not provided	NA|NA|NA	140162|29072|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/823022	823022	001018870|001385114|002511016	810785	criteria provided, multiple submitters, no conflicts
rs630671	chr11	60205837	61205837	NA	61205572	61205572	11q12.2	C	G	Likely pathogenic	NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter)	SDHAF2	Hereditary cancer-predisposing syndrome	NA	140162	http://www.ncbi.nlm.nih.gov/clinvar/variation/1732865	1732865	002455065	1795939	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30784946	30784946	12p11.21	C	T	Pathogenic/Likely pathogenic	NM_006390.4(IPO8):c.2900-1G>A	IPO8	IPO8-related aortopathy|IPO8 related Connective tissue disorder|VISS syndrome|not provided	NA|NA|619472|NA	NA|NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1047915	1047915	001507278|001731197|001553796|002225829	1035735	criteria provided, multiple submitters, no conflicts
rs2287463	chr12	30755654	31755654	NA	30789908	30789912	12p11.21	AGACTT	A	Pathogenic	NM_006390.4(IPO8):c.2695+4_2695+8del	IPO8	VISS syndrome	619472	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1192309	1192309	001553801	1182317	no assertion criteria provided
rs2287463	chr12	30755654	31755654	NA	30789909	30789913	12p11.21	GACTTT	G	Pathogenic	NM_006390.4(IPO8):c.2695+3_2695+7del	IPO8	IPO8 related Connective tissue disorder	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064723	1064723	001731201	1053003	no assertion criteria provided
rs2287463	chr12	30755654	31755654	NA	30790010	30790014	12p11.21	GGAAAA	G	Pathogenic	NM_006390.4(IPO8):c.2597_2601del (p.Leu866fs)	IPO8	VISS syndrome|IPO8-related aortopathy	619472|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1047912	1047912	001553798|001507275	1035736	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30790111	30790111	12p11.21	G	A	Likely pathogenic	NM_006390.4(IPO8):c.2500C>T (p.Arg834Trp)	IPO8	IPO8 related Connective tissue disorder|VISS syndrome	NA|619472	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064726	1064726	001731204|002051940	1053004	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30792531	30792531	12p11.21	G	A	Pathogenic/Likely pathogenic	NM_006390.4(IPO8):c.2407C>T (p.Arg803Ter)	IPO8	IPO8 related Connective tissue disorder|VISS syndrome|not provided	NA|619472|NA	NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064721	1064721	001731199|002052438|003128761	1053005	criteria provided, multiple submitters, no conflicts
rs2287463	chr12	30755654	31755654	NA	30792569	30792591	12p11.21	CAAGGCAGCAATTGCAACCTGAAG	C	Pathogenic	NM_006390.4(IPO8):c.2347_2369del (p.Leu783fs)	IPO8	IPO8-related aortopathy	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1047914	1047914	001507277	1035737	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30792659	30792659	12p11.21	GA	G	Pathogenic	NM_006390.4(IPO8):c.2279del (p.Leu760fs)	IPO8	VISS syndrome|IPO8 related Connective tissue disorder	619472|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064727	1064727	001553799|001731205	1053006	no assertion criteria provided
rs2287463	chr12	30755654	31755654	NA	30802094	30802094	12p11.21	A	G	Likely pathogenic	NM_006390.4(IPO8):c.2245T>C (p.Cys749Arg)	IPO8	IPO8 related Connective tissue disorder|VISS syndrome	NA|619472	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064725	1064725	001731203|002052440	1053007	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30805169	30805169	12p11.21	G	C	Likely pathogenic	NM_006390.4(IPO8):c.2129C>G (p.Ser710Ter)	IPO8	IPO8 related Connective tissue disorder|VISS syndrome	NA|619472	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064729	1064729	001731207|002052441	1053008	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30809633	30809633	12p11.21	G	A	Likely pathogenic	NM_006390.4(IPO8):c.1933C>T (p.Gln645Ter)	IPO8	VISS syndrome	619472	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1526426	1526426	002052445	1517915	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30816479	30816479	12p11.21	AG	A	Pathogenic	NM_006390.4(IPO8):c.1538del (p.Pro513fs)	IPO8	IPO8 related Connective tissue disorder	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064724	1064724	001731202	1053009	no assertion criteria provided
rs2287463	chr12	30755654	31755654	NA	30818149	30818149	12p11.21	C	T	Pathogenic	NM_006390.4(IPO8):c.1428+5G>A	IPO8	VISS syndrome|IPO8-related aortopathy	619472|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1047911	1047911	001553797|001507274	1035738	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30818162	30818162	12p11.21	G	A	Pathogenic	NM_006390.4(IPO8):c.1420C>T (p.Arg474Ter)	IPO8	IPO8-related aortopathy|not provided	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1047908	1047908	001507271|002548487	1035739	criteria provided, multiple submitters, no conflicts
rs2287463	chr12	30755654	31755654	NA	30822191	30822192	12p11.21	G	GA	Pathogenic/Likely pathogenic	NM_006390.4(IPO8):c.1069dup (p.Ser357fs)	IPO8	not provided|IPO8-related condition	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2579882	2579882	003328857|003420659	2747392	criteria provided, multiple submitters, no conflicts
rs2287463	chr12	30755654	31755654	NA	30823939	30823940	12p11.21	A	AC	Pathogenic	NM_006390.4(IPO8):c.1000dup (p.Val334fs)	IPO8	IPO8-related aortopathy	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1047910	1047910	001507273	1035740	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30827640	30827647	12p11.21	TCCACCATA	T	Pathogenic	NM_006390.4(IPO8):c.770_777del (p.Val257fs)	IPO8	IPO8-related aortopathy	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1047909	1047909	001507272	1035741	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30827641	30827641	12p11.21	C	T	Pathogenic	NM_006390.4(IPO8):c.776G>A (p.Trp259Ter)	IPO8	VISS syndrome|IPO8-related aortopathy	619472|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1047913	1047913	001553795|001507276	1035742	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30829433	30829433	12p11.21	AG	A	Pathogenic	NM_006390.4(IPO8):c.728del (p.Pro243fs)	IPO8	IPO8 related Connective tissue disorder	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064728	1064728	001731206	1053010	no assertion criteria provided
rs2287463	chr12	30755654	31755654	NA	30829461	30829461	12p11.21	G	A	Likely pathogenic	NM_006390.4(IPO8):c.700C>T (p.Arg234Ter)	IPO8	VISS syndrome	619472	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1526425	1526425	002052444	1517914	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30833415	30833415	12p11.21	C	T	Pathogenic	NM_006390.4(IPO8):c.639+1G>A	IPO8	VISS syndrome	619472	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2572415	2572415	003314300	2737361	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30837296	30837296	12p11.21	C	T	Likely pathogenic	NM_006390.4(IPO8):c.262G>A (p.Asp88Asn)	IPO8	VISS syndrome|IPO8 related Connective tissue disorder	619472|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064720	1064720	001553800|001731198	1053011	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30843512	30843512	12p11.21	C	G	Likely pathogenic	NM_006390.4(IPO8):c.85-1G>C	IPO8	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2070383	2070383	002967095	2119616	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	30848500	30848500	12p11.21	G	A	Pathogenic	NM_006390.4(IPO8):c.82C>T (p.Gln28Ter)	IPO8	IPO8 related Connective tissue disorder|VISS syndrome	NA|619472	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064722	1064722	001731200|002052439	1053012	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs781413815	31236825	31236825	12p11.21	C	T	Pathogenic	NM_030653.4(DDX11):c.223C>T (p.Arg75Ter)	DDX11	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/521211	521211	000622513	511989	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs1359896342	31237906	31237906	12p11.21	C	T	Likely pathogenic	NM_030653.4(DDX11):c.484C>T (p.Gln162Ter)	DDX11	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/489053	489053	000579358	482016	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs201968272	31242081	31242081	12p11.21	G	A	Pathogenic	NM_030653.4(DDX11):c.788G>A (p.Arg263Gln)	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/39995	39995	000033122	48508	no assertion criteria provided
rs2287463	chr12	30755654	31755654	NA	31242086	31242086	12p11.21	G	A	Likely pathogenic	NM_030653.4(DDX11):c.792+1G>A	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/2637847	2637847	003405145	2805324	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	31242999	31242999	12p11.21	G	A	Likely pathogenic	NM_030653.4(DDX11):c.1060G>A (p.Gly354Arg)	DDX11	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1683965	1683965	002244487	1675896	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs368266910	31244696	31244696	12p11.21	G	C	Likely pathogenic	NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro)	DDX11	not provided|Warsaw breakage syndrome	NA|613398	NA|280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/421308	421308	000487130|000762793	408628	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs778363138	31247556	31247557	12p11.21	C	CT	Pathogenic	NM_030653.4(DDX11):c.1403dup (p.Ser469fs)	DDX11	Warsaw breakage syndrome|not provided	613398|NA	280558|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/992470	992470	001280920|001577234	980345	criteria provided, multiple submitters, no conflicts
rs2287463	chr12	30755654	31755654	rs1944933634	31247758	31247758	12p11.21	T	C	Pathogenic	NM_030653.4(DDX11):c.1482+2T>C	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/1031443	1031443	001333269	1021024	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs201180239	31249834	31249834	12p11.21	C	T	Pathogenic	NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/992360	992360	001280798	980346	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs148856317	31250818	31250818	12p11.21	G	C	Pathogenic	NM_030653.4(DDX11):c.1763-1G>C	DDX11	not provided|Warsaw breakage syndrome	NA|613398	NA|280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/252749	252749	000238763|000991173	247078	criteria provided, multiple submitters, no conflicts
rs2287463	chr12	30755654	31755654	NA	31250912	31250913	12p11.21	C	CG	Pathogenic	NM_030653.4(DDX11):c.1862dup (p.Thr622fs)	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/1699047	1699047	002272904	1691421	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs779058797	31253960	31253960	12p11.21	G	A	Likely pathogenic	NM_030653.4(DDX11):c.1949-1G>A	DDX11	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/372355	372355	000414224	359951	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs1946297931	31254029	31254029	12p11.21	G	T	Pathogenic	NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter)	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/915422	915422	001170038	903590	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs776627170	31255204	31255204	12p11.21	C	T	Pathogenic/Likely pathogenic	NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter)	DDX11	not provided|Warsaw breakage syndrome	NA|613398	NA|280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/806856	806856	000994883|003223415	796753	criteria provided, multiple submitters, no conflicts
rs2287463	chr12	30755654	31755654	rs730880279	31255247	31255247	12p11.21	T	C	Pathogenic	NM_030653.4(DDX11):c.2271+2T>C	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/8369	8369	000008874	23408	no assertion criteria provided
rs2287463	chr12	30755654	31755654	rs1946656233	31255868	31255868	12p11.21	A	G	Pathogenic	NM_030653.4(DDX11):c.2373-2A>G	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/1032230	1032230	001334282	1021025	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs745501673	31255955	31255955	12p11.21	G	T	Pathogenic	NM_030653.4(DDX11):c.2457+1G>T	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/638411	638411	000791059	626314	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs1946792293	31256510	31256510	12p11.21	G	A	Likely pathogenic	NM_030653.4(DDX11):c.2537-1G>A	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/1028896	1028896	001330070	1017606	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	NA	31256611	31256612	12p11.21	A	AG	Likely pathogenic	NM_030653.4(DDX11):c.2638dup (p.Ala880fs)	DDX11	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1194119	1194119	001556740	1184684	criteria provided, single submitter
rs2287463	chr12	30755654	31755654	rs730880280	31256661	31256663	12p11.21	CAGA	C	Pathogenic	NM_030653.4(DDX11):c.2689_2691del (p.Lys897del)	DDX11	Warsaw breakage syndrome	613398	280558	http://www.ncbi.nlm.nih.gov/clinvar/variation/8370	8370	000008875	23409	no assertion criteria provided
rs1831224	chr13	78415735	79415735	NA	77566087	78492734	13q22.3	NA	NA	Pathogenic	NC_000013.10:g.(?_77566087)_(78492734_?)del	CLN5;EDNRB;FBXL3;MYCBP2;SCEL;SLAIN1	Neuronal ceroid lipofuscinosis|not provided	NA|NA	216|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074432	1074432	001387711|003120596	1057638	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	78473992	78473992	13q22.3	A	G	Pathogenic	NM_001122659.3(EDNRB):c.1194+2T>C	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1498840	1498840	002010300	1488588	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	78473993	78473993	13q22.3	C	G	Pathogenic	NM_001122659.3(EDNRB):c.1194+1G>C	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1341593	1341593	001837089	1332842	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	78474044	78474045	13q22.3	T	TA	Likely pathogenic	NM_001122659.3(EDNRB):c.1143dup (p.Asn382Ter)	EDNRB	EDNRB-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2633374	2633374	003408492	2801591	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs1566304640	78474728	78474728	13q22.3	G	A	Likely pathogenic	NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu)	EDNRB	Aganglionosis, total intestinal;Hearing impairment	202550;NA	NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/619135	619135	000758015	610530	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	78475231	78475231	13q22.3	CT	C	Pathogenic	NM_001122659.3(EDNRB):c.913del (p.Ser305fs)	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2004757	2004757	002828361	2058823	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs1555290386	78475264	78475265	13q22.3	T	TA	Likely pathogenic	NM_001122659.3(EDNRB):c.879dup (p.Thr294fs)	EDNRB;EDNRB-AS1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/444319	444319	000513371	437959	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs1064797177	78475265	78475266	13q22.3	A	AT	Likely pathogenic	NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter)	EDNRB	not provided|Hearing impairment	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/425030	425030	000487897|001375059	413364	criteria provided, multiple submitters, no conflicts
rs1831224	chr13	78415735	79415735	rs769735757	78475266	78475267	13q22.3	T	TA	risk factor	NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs)	EDNRB	Hirschsprung disease, susceptibility to, 2	600155	388	http://www.ncbi.nlm.nih.gov/clinvar/variation/16636	16636	000018116	31675	no assertion criteria provided
rs1831224	chr13	78415735	79415735	rs104894389	78475320	78475320	13q22.3	C	T	risk factor	NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter)	EDNRB	Hirschsprung disease, susceptibility to, 2	600155	388	http://www.ncbi.nlm.nih.gov/clinvar/variation/16635	16635	000018115	31674	no assertion criteria provided
rs1831224	chr13	78415735	79415735	rs1555290401	78475343	78475343	13q22.3	C	T	Likely pathogenic	NM_001122659.3(EDNRB):c.802-1G>A	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/489136	489136	000578556	482044	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	78477289	78477289	13q22.3	A	G	Likely pathogenic	NM_001122659.3(EDNRB):c.801+2T>C	EDNRB	Waardenburg syndrome type 4A	277580	897	http://www.ncbi.nlm.nih.gov/clinvar/variation/1334125	1334125	001809337	1324892	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	78477290	78477290	13q22.3	C	A	Likely pathogenic	NM_001122659.3(EDNRB):c.801+1G>T	EDNRB	Waardenburg syndrome type 4A	277580	897	http://www.ncbi.nlm.nih.gov/clinvar/variation/1333432	1333432	001808120	1324204	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	78477315	78477315	13q22.3	CG	C	Likely pathogenic	NM_001122659.3(EDNRB):c.777del (p.Val260fs)	EDNRB	Waardenburg syndrome type 4A	277580	897	http://www.ncbi.nlm.nih.gov/clinvar/variation/1064869	1064869	001375041	1053162	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs104894390	78477335	78477335	13q22.3	G	A	Pathogenic/Likely pathogenic	NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)	EDNRB	Waardenburg syndrome type 4A|not provided	277580|NA	897|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/16639	16639	000018119|001851902	31678	criteria provided, multiple submitters, no conflicts
rs1831224	chr13	78415735	79415735	rs876657688	78477474	78477474	13q22.3	C	T	Pathogenic	NM_001122659.3(EDNRB):c.618G>A (p.Trp206Ter)	EDNRB	Rare genetic deafness	NA	96210	http://www.ncbi.nlm.nih.gov/clinvar/variation/228342	228342	000221133	230451	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs104894391	78477491	78477491	13q22.3	G	A	Pathogenic	NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)	EDNRB	ABCD syndrome|Waardenburg syndrome type 4A|not provided	600501|277580|NA	918|897|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/16640	16640	000018120|000659496|001092078	31679	criteria provided, multiple submitters, no conflicts
rs1831224	chr13	78415735	79415735	NA	78477628	78477628	13q22.3	A	G	Likely pathogenic	NM_001122659.3(EDNRB):c.596+2T>C	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1510402	1510402	002011742	1442457	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	78477629	78477629	13q22.3	C	T	Pathogenic	NM_001122659.3(EDNRB):c.596+1G>A	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1683916	1683916	002244438	1675847	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs1555290659	78477676	78477676	13q22.3	A	G	Likely pathogenic	NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro)	EDNRB	Waardenburg syndrome type 4A	277580	897	http://www.ncbi.nlm.nih.gov/clinvar/variation/547294	547294	000659495	538020	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs104894388	78477678	78477678	13q22.3	G	C	Pathogenic	NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)	EDNRB	Waardenburg syndrome type 4A	277580	897	http://www.ncbi.nlm.nih.gov/clinvar/variation/16634	16634	000018114	31673	no assertion criteria provided
rs1831224	chr13	78415735	79415735	rs1458799604	78477705	78477705	13q22.3	AC	A	Pathogenic	NM_001122659.3(EDNRB):c.521del (p.Cys174fs)	EDNRB	Waardenburg syndrome type 4A	277580	897	http://www.ncbi.nlm.nih.gov/clinvar/variation/547293	547293	000659494	538021	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs1064797178	78492403	78492403	13q22.3	G	T	Pathogenic	NM_001122659.3(EDNRB):c.306C>A (p.Tyr102Ter)	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/546018	546018	000657773	536446	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs1555292048	78492486	78492498	13q22.3	TCTCCTTTAGGCAC	T	Likely pathogenic	NM_001122659.3(EDNRB):c.211_223del (p.Val71fs)	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/524124	524124	000627620	514658	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs1879929102	78492551	78492551	13q22.3	TA	T	Likely pathogenic	NM_001122659.3(EDNRB):c.158del (p.Leu53fs)	EDNRB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/871881	871881	001092079	860072	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	rs768126403	78492652	78492652	13q22.3	G	T	Pathogenic/Likely pathogenic	NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	EDNRB	Waardenburg syndrome type 4A	277580	897	http://www.ncbi.nlm.nih.gov/clinvar/variation/545012	545012	000721946	535276	no assertion criteria provided
rs1831224	chr13	78415735	79415735	rs267606780	78493708	78493708	13q22.3	T	A	risk factor	NM_000115.5(EDNRB):c.-51-949A>T	EDNRB	Hirschsprung disease, susceptibility to, 2	600155	388	http://www.ncbi.nlm.nih.gov/clinvar/variation/16641	16641	000018121	31680	no assertion criteria provided
rs1831224	chr13	78415735	79415735	rs1874704791	79175893	79175893	13q31.1	T	C	Pathogenic	NM_006237.4(POU4F1):c.917A>G (p.Gln306Arg)	POU4F1	not provided|Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	NA|619352	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/973050	973050	001249395|001507290	961310	no assertion criteria provided
rs1831224	chr13	78415735	79415735	NA	79176520	79176527	13q31.1	AGGCACCGT	A	Pathogenic	NM_006237.4(POU4F1):c.283_290del (p.Thr95fs)	POU4F1	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	619352	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1162302	1162302	001507292	1151307	no assertion criteria provided
rs1831224	chr13	78415735	79415735	NA	79176529	79176539	13q31.1	GGAAGTGGACGT	G	Pathogenic	NM_006237.4(POU4F1):c.271_281del (p.Thr91fs)	POU4F1	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	619352	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1162303	1162303	001507293	1151308	no assertion criteria provided
rs1831224	chr13	78415735	79415735	rs1874754405	79176648	79176649	13q31.1	C	CAGCG	Pathogenic	NM_006237.4(POU4F1):c.158_161dup (p.Leu55fs)	POU4F1	not provided|Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	NA|619352	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/973028	973028	001249362|001507291	961311	no assertion criteria provided
rs1831224	chr13	78415735	79415735	NA	79177346	79177347	13q31.1	G	GT	Pathogenic	NM_006237.4(POU4F1):c.115dup (p.Thr39fs)	POU4F1	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	619352	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2446056	2446056	003156410	2419478	criteria provided, single submitter
rs1831224	chr13	78415735	79415735	NA	79177357	79177358	13q31.1	G	GGCCC	Likely pathogenic	NM_006237.4(POU4F1):c.101_104dup (p.Cys36fs)	OBI1-AS1;POU4F1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1675527	1675527	002211256	1666911	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113344741	113344741	13q34	G	A	Pathogenic	NM_015205.3(ATP11A):c.11G>A (p.Ser4Asn)	ATP11A	Hearing loss, autosomal dominant 84	619810	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527862	1527862	002216149	1519370	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113459358	113459358	13q34	C	G	Pathogenic	NM_015205.3(ATP11A):c.250C>G (p.Gln84Glu)	ATP11A	Leukodystrophy, hypomyelinating, 24	619851	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1686851	1686851	002248336	1678965	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113526099	113526100	13q34	TCA	T	Likely pathogenic	NM_015205.3(ATP11A):c.3044_3045del (p.Thr1015fs)	ATP11A	Hearing loss, autosomal dominant 84	619810	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2444276	2444276	003153074	2418009	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113530249	113530250	13q34	A	AGTCCAGGT	Pathogenic	NM_015205.3(ATP11A):c.3322_3327+2dup	ATP11A	Autosomal dominant nonsyndromic hearing loss 33|Hearing loss, autosomal dominant 84	614211|619810	90635|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1327581	1327581	001789843|002074117	1318185	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113532037	113537535	13q34	CTCCCCGCAGGAGTCTGGGCTCTTCCATGCACTGTGCACGCAGCCTCCAGAGTCGGGGCTGCCGAGGGCCACGCCCCCGGATGTGTCTGACCACAGGCCCTCTGCTCTGCAACTCATCTCCAGGATGGGTGGGCACTTTGGGAATGCCAGTGAGGACCCTCCCCGTCCCACCCTTTGTTTAGAAGCCCCTGTATTGCTGTGGGTCTCTGCGTCCCACAAGAGCCCCGGGAATGCTTATGAACAGCTACACAGCGGGACCTGCAGAAGGCATAAAGCAGGGGGTGGGAGGGGCTGGCGGGTCACGGTGGGGGGCACCAGTGTCCGCCCAGAGTGACCAGAAGAACTTGCACGTGGTGGCGAGCCTCTGACTAACTCAGCTCTGTCTCTTGTTTCTCTTTCCTTCCCATTTCCTTCCGTCTTCCGACCGCTTTGCCTAAATCCTCACACCTTGTTCACACACCCCTGTGTGCGTGGCCGCTGACCTCGGGACTAAGACTAAGAGCCAGTGCCTTTCTGTCGAGCAGTCAACCATCTTTATGCTTTCTCAGACTTCCAGCAGCCTGAGTTTCTGATGGAACAAGGTGATGCTCCTCTGCCTTCCACGCACCTGGGATGGTAGACACGGGGCAGCAGGGCCATGCCCATCACCAGAGCCCTGAGTCCACGTGCTCTGACGCAGCGTCCACCAGGCGCTGGGTACAGCAGCCTCACGTCGGGAAGTCCCGCCACCACTTACACCTTCTCATGCACAGACTGATCATGGGCTGTGCTTTCCATCAGTCACAGTTAACCAGGGTTTCTCCCTCAGCGTCCGTGCAGCCTCAGAACCCACCTGTGTGAGGGTTCAGACACAGCTGACAGCGGAGAGCTGGCCACATGACCCCTCACACAGGTGTCAGAGGGGTTCCTAAGCAGGAAGGTGTGAGAGTTTGCAATTCACAGGTCATCCAGGCTCTGAGCTCACACACCCTTCCCTCTGCAGCCTGTAGAGCGTGGATCACAAGGCCTCCTCCCTCACGCACCCACTTCTGTGCCCATTCTGCAGCTGGAAAGACTGAGGGCAGCTAGGATAACACGGTTTGCTCAGGACCCATGCACATTTCAGAAAAGGGGAGCCAGGCTGAGCCACACAACTGGAGACAAAGAGGGGACGGAAGTGTTTGGTGTCAAATGTTTGACCAAATTCCCTTTTTACTGTTTTTTAAATGAAAACCTCATTGTTTTTCAAAAAAGCCTTCTATTAATAATTTGCTTTAAAAATGACGACCTTGGCCTTTCTGGGCAATGTAGAGGCGTTCACACGCCATTTTTCTGCGGTGGTGTCCATGATAAGAGCCGAGATTGCAGGGGCCTGCACGCCGTCCTGAAGTCGCGTTCTGTCTTTTAGCCGTGTGCTCCTGCACCAAATACCGCCTTCACGCATGCCTCCAAATCAGTGATGCTTTGAAAATGCATACTTGGTATTACTGTTTTACCAAATGCAGCTTAGAAAAATGCCCAAAGCAGAAAAAGGCTTCTTTTCCCTTTAATAACATCATCTTCTATATATTTTAAACAGGATTTTTAACTGACAAAATGGTCCTTTTTTAAGTCCAAGCAATTAATCAGAATCAACAGTTTTCTAATTTAGTGTCATCAGAATTTGTTAGATTAAATTGCAGAATTTCATCTCACCATTTCTGTACTTGAAGACATTTAGGATGAAATTATTAGGAACATTTTAATGACTCATAAGAGGTCCTTAAGAAACTGATTAAATCATGCCAACTCTGAGCTAAAAATAAGCATTCTAACGATTCATGTAGTTTGTTGAGAGCTGATTTGCTTCTGAGCATGTACGGAAGCTGAGCCCGGCTGCGTAGAGACAGTGGCACGGAGTTTCTCCTGCCCCCTGCGAGGCCTTGGGCCCCGGCATGACCCCCACAGACAGGGCCGGCGTCCACACTTGAACAGAAAGCGCCTGCAGCCAGCACATGCCCGGCGCACACGGGAACACGCCGTGGCGCCGAGACCACCTGCGTTCTGCAAAACTTTGGAGGAATAAACGTGTCACTAGTCCTCACGTGGGGCATATGTTACTTCCAGTGGATGGCTTTCTTTTAACCTGTTCCTACGGAAAAGAAAAGCATCACAGGCCTCAGATGTATATGTTATATATGTGCGATTTGCACATATATGCCCGTGCTGGCATCTCTGCGTATCTGCATGCAGTTCACTTCTCCGTCACTGTCCCCAGGAAGGGTGGCAGCCTCATCCTCTGTTTCCTACTTCTCCTCACCTGGGCGTTTGCCCATTCAGACGTGCAATTGTGCAATTCCAAGCCCGCAGTTCTTCAGCTCCTGTGCTTCCCTTATTCCTTGAATAAGGCTGGGCTACAAGATCTCAGTGGAGTTCTGTGAGCACGCTGGACTCAGGAAAGTCCGTCGCAGGGCCCTGGTAGAGCGGTTACTGGAGCTCGCTGTCTGCCGTGGAAGTGGGCGTGTGGCTGAACGTGTGGCTTCAGGATTCCAGCGGTGCCTGGTAGACCTTCCAGCCGAGGGACCTCAGACCCTCTGCCTCCCGCGGGTGCATGGCCCGTCCCTGAGCCTGTCGCTGTCTCAGTTCTGGGCTCGGGCCCCTCATGGGAGCGGCCCTGCTGGGACAGTGTTTTCCCAAGACGCCCCAAGCCCTCGCCCTGGCAGCTCCATGACACCCCATGCAGACTCCAACAGGGGCTTCGAGCCTCTTCCTGCTGGGGTCCCACGGATGGTGCAGGCAGAGGCCCGAGCACTCCTGGTGGCCCCGTGTGGCCCACGTCGCTCAGTATCTTTCCTCGCCTTGCAGAGGGGTGTGAAGCACAAGGCTCCAGTCCAGGCCGCACAGAGCAGCGATGGGCCCCTCCTGAAGGACCTCCTACGGCGGCCAAGGCGCAGTTAGCTCCACGCTAGGTAACTGTGCGGCTGCTGGACGCCGCCCGTGTGCTGTGACTGTCAGACCCGTTTTTCCTCCAAAGTTGTGCTGTGCTGTGCTGTCTTTGATAACAAAGGTTCACGGTGAGAAAGAGCAGCCCTCTTTACACACACATGCATTTGCTGTCCCAGGTAAGTAACACGCCTGAGGGCAAGCTGACCACACATGGAACATGCTGTGCACACACACGTGTGCACACTCACCCCACACGCACGGCACACAGCCTGACCAGACCCAGCATCGTCAGACACAGGCTCACGATCCTGGTCTTTCGGGGGACACAGCTTCACTTAAAAGGCCCATCAGGAAGGACCGTGCTTTGAAATCAAACGTGGTTATTGCATGGTTTGTGTGGAACTGGGGCCCAGGCAGGTGTGAGTGCAGGTCTTCTGTGTGCCAGCCGGAGCACATAGCTTGTCGCCTCTCCAACAGACATGGAGGCCATGAAGACATCTGCTCCTGCCAGCATCCGCCGCTGCCCCCTGGTCTAAAAGTGGGCTGACCTGGGGACGGCCCCTCATCAGACAGATGCGTGCTGCCGGCCTCCTGCCGCTCCCCTTGCTGGTCAGACCCACAGGGCCCGTGCACATCCGGGGCCCCAGTGGGCTGTCAGAAGCCATGCAGGCCCCATCCGTATGGTGACATCCTAGGCAACATGTCAAGGGGATGCAAGCTGGGCACGTCCAGTACTAAATCAACCCGGTCCCTGTGGGGTGGGGCCTGCCTTCCCTGGGGCAGTGAGTTCGCCTTTTGTTCAAGGGTCTCTGGGTACCGGTATGGCGTTCGAGCTCACTGCACAGGAAGCCAGCTACAGGGAGGAAGCTCGTAGGTTTCCCGTCCATGGCCTGTATCCCTGGGGCCCCTGGGTTCTTCCCTGGGATGGTGGGACAGGGGGACGGTCACTCTGTTGGTACTGAAAAGGAGAGGCCCTCATTCCTAGACAGAGACCCCTCGCCTCCATATGGCTTCTCTGGTGGGGTGGATCCCGCCCGGCCTGCCCTCAGGACGAGGGTGTGTCCTGAGTTGAGTCTAGCAGTTCCTGCAGGAGGCGATGGTAGTGAGTGCATCCCAGAGTGGCTCAGGTCACCCCAGGCAGCCCCGTGGGTATCCCTGAGACTGACCATGTGTCTCGTTCTCTCAGCAGAATGGGTGCGCACAGCCTCGGGACCGCGACTCAGAATTCACCCCTCTTGCCTCTCTGCAGAGCCCAGGCTACCAGAGCACCTGTCCCTCGGCCGCCTGGTACAGCTCCCACTCTCAGCAGGTGACACTCGCGGCCTGGAAGGAGAAGGTGTCCACGGAGCCCCCACCCATCCTCGGCGGTTCCCATCACCACTGCAGTTCCATCCCAAGTCACAGCTGCCCTAGGTCCCGTGTGGGAATGCTCGTGTGATGGATGGTCCTAAGCCTGTGGAGACTGTGCACGTGCCTCTTCCTGGCCCCCAGCAGGCAAGGAGGGGGGTCACAGGCCTTGCCCTCGAGCATGGCACCCTGGCCGCCTGGACCCAGCACTGTGGTTGTTGAGCCACACCAGTGGCCTCTGGGCATTCGGCTCAACGCAGGAGGGACATTCTGCTGGCCCACCCTGCGCGCTGTCATGCAGAGGCCATTCCCCCAGGCCTGTGTCTTCACCCACCTGCCATCATTGGCCTTTGCTGTCACTGGGAGAGAAGAGCCGTCCAGGGACCCATGGTGGCCCACATGTGGATGCCACATGCTGCTGTTTCCTGCTTGCCCGGCCACCACCCATGCCCTCCATAGGGTGAGGTGGAGCCATGGTGGTGCGTCCTTTACTCAACAACCCTCCAATCCGGATGCTGTGGGAAGGGCCGGGTCACTCGGATACCATCATCCCTGCGGATGCACCGCCGTACCCTGCTCATCTGGGAGTGGTTTCCCTGCGGTTACGTCCAAGCCCGCCTGCCCTGTGTGTTGGGGCTGGCTGAGTTTCGGTCTCCCCATCACCGGCCGCCTCGTGGAGAAGGCAGTGCCACGTGGGAGGACAAGGCCACGCCGGCAGCTTCCAGCCCTGCCGCAGAAGTGCCAGGATGTCCATCAGCCACTCGCCAGGGCACGGAGCCGTCAGTCCACTGTTACGGGAGAATGTTGATTTCGCGGGTGCGAGGGCCGGGAGACAGATACTTGGCTGTGATGAGCAGACATCCTCTGTCCCCGTGGAGGGGTCAACACCAAGGTGGTGTTCGTGCACCAGAACCTGTCTCGGGCTGACGGGGGTGGCACACAGGACACGGGTGGATCCCAACAGGCAGCACCGCACCTCTGCCCGCCTCCCGCACTGCAGCTCCGCCCGCCGGGCTCTGCGTCCCCACGTCCCCTCGTCCCATCCCCACGTCCCCTCATCCCGTCACCTCGTCCCCACATCCCCTTGCCCCGTCACCTCGTCCTCATGTCCCCTTGTCCTGTCACCTCGTCCCCACGTCCCCTCGTCTCCTCATCCCCACGTCCTCTCGTCCCCTTGTCCCGTCCCCACATACCCTCGTCCCCATGTCCCCACGCAGGGCTCTCCTTCGTCTTAGGATCTGTCCAGCG	AA	Pathogenic	NM_015205.3(ATP11A):c.3328-494_*1355delinsAA	ATP11A	Auditory neuropathy, autosomal dominant 2	620384	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2502846	2502846	003229504	2667962	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs5742910	113759830	113759831	13q34	T	TTCCTATATCC	risk factor	NC_000013.11:g.113105517_113105518insCCTATATCCT	F7	Myocardial infarction, decreased susceptibility to	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12079	12079	000012860	27118	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113760062	113760062	13q34	C	G	Pathogenic	NC_000013.11:g.113105748C>G	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12082	12082	000012863	27121	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs1367115848	113760095	113760095	13q34	T	G	Likely pathogenic	NM_000131.4(F7):c.-61T>G	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/626946	626946	000851625	615739	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs1418012389	113760101	113760101	13q34	C	T	Likely pathogenic	NM_000131.4(F7):c.-55C>T	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/626945	626945	000851624	615740	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs539578931	113760126	113760126	13q34	A	C	Likely pathogenic	NM_019616.4(F7):c.-30A>C	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/626922	626922	000851580	615520	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs387906507	113760193	113760193	13q34	T	C	Pathogenic	NM_019616.4(F7):c.38T>C (p.Leu13Pro)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12075	12075	000012856	27114	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs769455161	113760224	113760224	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.64+5G>A	F7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/444322	444322	000513469	437962	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113761224	113761224	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.64+1005G>A	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/2506137	2506137	003236368	2671097	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113765025	113765025	13q34	C	A	Likely pathogenic	NM_019616.4(F7):c.86C>A (p.Ala29Asp)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527903	1527903	002074471	1519410	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113765084	113765084	13q34	G	C	Likely pathogenic	NM_019616.4(F7):c.145G>C (p.Gly49Arg)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1676746	1676746	002222143	1668346	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs45572939	113765091	113765091	13q34	T	A	Likely pathogenic	NM_019616.4(F7):c.152T>A (p.Leu51Gln)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627276	627276	000852075	615522	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113765091	113765092	13q34	T	TG	Likely pathogenic	NM_019616.4(F7):c.154dup (p.Glu52fs)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/2572145	2572145	003313883	2737091	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113765114	113765114	13q34	C	T	Likely pathogenic	NM_019616.4(F7):c.175C>T (p.Gln59Ter)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1703839	1703839	002280998	1696224	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113765126	113765126	13q34	G	A	Pathogenic	NM_019616.4(F7):c.187G>A (p.Glu63Lys)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12087	12087	000012868	27126	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113765159	113765159	13q34	A	G	Likely pathogenic	NM_019616.4(F7):c.220A>G (p.Arg74Gly)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1098443	1098443	001420375	1087220	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113765165	113765165	13q34	G	C	Pathogenic	NM_019616.4(F7):c.225+1G>C	F7	Congenital factor VII deficiency|not provided	227500|NA	327|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1691295	1691295	002254393|003326619	1683774	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113768193	113768193	13q34	A	G	Pathogenic	NM_019616.4(F7):c.283A>G (p.Asn95Asp)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12073	12073	000012854	27112	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113768207	113768207	13q34	C	A	Pathogenic	NM_019616.4(F7):c.297C>A (p.Cys99Ter)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12084	12084	000012865	27123	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs1056071555	113768275	113768275	13q34	G	A	Pathogenic/Likely pathogenic	NM_019616.4(F7):c.364+1G>A	F7	Factor VII deficiency|not provided|Congenital factor VII deficiency|Myocardial infarction, susceptibility to;Congenital factor VII deficiency	227500|NA|227500|608446;227500	NA|NA|327|NA;327	http://www.ncbi.nlm.nih.gov/clinvar/variation/627309	627309	000852127|001561212|002245657|002487577	615741	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113768275	113768275	13q34	G	C	Pathogenic	NM_019616.4(F7):c.364+1G>C	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12074	12074	000012855	27113	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113770003	113770003	13q34	G	T	Pathogenic	NM_019616.4(F7):c.394G>T (p.Glu132Ter)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1098445	1098445	001420377	1087222	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113770012	113770012	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.403G>A (p.Gly135Ser)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527890	1527890	002074465	1519397	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs200016360	113770022	113770022	13q34	A	G	Pathogenic/Likely pathogenic	NM_019616.4(F7):c.413A>G (p.Gln138Arg)	F7	Factor VII deficiency|Congenital factor VII deficiency|Myocardial infarction, susceptibility to;Congenital factor VII deficiency	227500|227500|608446;227500	NA|327|NA;327	http://www.ncbi.nlm.nih.gov/clinvar/variation/627178	627178	000779128|002222629|002487576	615524	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	rs375134790	113770052	113770052	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.443G>A (p.Arg148His)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627084	627084	000851809	615525	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113770192	113770192	13q34	G	A	Pathogenic/Likely pathogenic	NM_019616.4(F7):c.505+78G>A	F7	not provided|Congenital factor VII deficiency	NA|227500	NA|327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1678759	1678759	002226073|002243529	1670553	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113771091	113771091	13q34	T	C	Likely pathogenic	NM_019616.4(F7):c.517T>C (p.Cys173Arg)	F7	Congenital factor VII deficiency|not provided|See cases	227500|NA|NA	327|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1684389	1684389	002245395|002284230|003128439	1676318	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	rs1250204261	113771097	113771097	13q34	A	G	Likely pathogenic	NM_019616.4(F7):c.523A>G (p.Lys175Glu)	F7	Abnormal bleeding	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627339	627339	000852164	615526	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs267606790	113771136	113771136	13q34	C	T	Pathogenic	NM_019616.4(F7):c.562C>T (p.Gln188Ter)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12086	12086	000012867	27125	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113771142	113771142	13q34	C	T	Pathogenic	NM_019616.4(F7):c.568C>T (p.Arg190Ter)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322860	1322860	003147659	1313157	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113771150	113771150	13q34	TG	T	Pathogenic	NM_019616.4(F7):c.581del (p.Gly194fs)	F7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1705959	1705959	002284333	1704279	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs769452933	113771190	113771190	13q34	G	T	Likely pathogenic	NM_019616.4(F7):c.615+1G>T	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627119	627119	000851856	615742	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113771818	113771818	13q34	G	A	Pathogenic	NM_019616.4(F7):c.647G>A (p.Cys216Tyr)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12069	12069	000012850	27108	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113771820	113771820	13q34	G	C	Likely pathogenic	NM_019616.4(F7):c.649G>C (p.Gly217Arg)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1676744	1676744	002222141	1668344	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs1160146175	113771827	113771827	13q34	C	A	Likely pathogenic	NM_019616.4(F7):c.656C>A (p.Thr219Asn)	F7	Factor VII deficiency|Congenital factor VII deficiency	227500|227500	NA|327	http://www.ncbi.nlm.nih.gov/clinvar/variation/626937	626937	000851614|003330942	615527	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113771894	113771894	13q34	AC	A	Pathogenic	NM_019616.4(F7):c.724del (p.Asn241_Leu242insTer)	F7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1071294	1071294	001383722	1062790	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113771908	113771908	13q34	T	C	Likely pathogenic	NM_019616.4(F7):c.737T>C (p.Leu246Pro)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1098447	1098447	001420379	1087224	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs746625213	113771915	113771915	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.739+5G>A	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627144	627144	000851894	615743	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113772726	113772727	13q34	G	GGCGAGCACGACCTCA	Likely pathogenic	NM_019616.4(F7):c.751_765dup (p.Asp255_Gly256insLeuSerGluHisAsp)	F7	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2504501	2504501	003231962	2669454	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs757743255	113772727	113772741	13q34	GGCGAGCACGACCTCA	G	Likely pathogenic	NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627392	627392	000852230	615528	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs786205091	113772770	113772786	13q34	GGCGGGTGGCGCAGGTCA	G	Pathogenic	NM_019616.4(F7):c.783_799del (p.Arg262fs)	F7	Factor VII deficiency|Congenital factor VII deficiency	227500|227500	NA|327	http://www.ncbi.nlm.nih.gov/clinvar/variation/12077	12077	000012858|002243639	27116	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs121964931	113772832	113772832	13q34	C	T	Pathogenic/Likely pathogenic	NM_019616.4(F7):c.845C>T (p.Ala282Val)	F7	Factor VII deficiency|not provided|Congenital factor VII deficiency|Myocardial infarction, susceptibility to;Congenital factor VII deficiency	227500|NA|227500|608446;227500	NA|NA|327|NA;327	http://www.ncbi.nlm.nih.gov/clinvar/variation/627403	627403	000852243|000995102|002245661|002487578	615530	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113772841	113772841	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.854G>A (p.Arg285His)	F7	not provided|Factor VII deficiency	NA|227500	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1163548	1163548	001508717|001843373	1152530	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113772844	113772844	13q34	T	C	Likely pathogenic	NM_019616.4(F7):c.857T>C (p.Leu286Pro)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1527889	1527889	002074464	1519396	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113772855	113772855	13q34	G	A	Pathogenic/Likely pathogenic	NM_019616.4(F7):c.868G>A (p.Val290Met)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1677255	1677255	002223106	1668887	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113772857	113772857	13q34	TG	T	Likely pathogenic	NM_019616.4(F7):c.871del (p.Val291fs)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1691296	1691296	002254394	1683775	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs387906508	113772904	113772904	13q34	T	C	Pathogenic	NM_019616.4(F7):c.917T>C (p.Phe306Ser)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12090	12090	000012871	27129	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs1250853566	113772948	113772948	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.961G>A (p.Gly321Ser)	F7	Factor VII deficiency|Congenital factor VII deficiency	227500|227500	NA|327	http://www.ncbi.nlm.nih.gov/clinvar/variation/627193	627193	000851965|003323715	615531	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	rs750980786	113773011	113773011	13q34	C	T	Likely pathogenic	NM_019616.4(F7):c.1024C>T (p.Arg342Trp)	F7	Abnormality of coagulation	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/626967	626967	000851653	615532	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs121964926	113773012	113773012	13q34	G	A	Pathogenic/Likely pathogenic; other	NM_019616.4(F7):c.1025G>A (p.Arg342Gln)	F7	not provided|Factor VII deficiency|Factor VII Padua|Myocardial infarction, susceptibility to;Congenital factor VII deficiency|Congenital factor VII deficiency|F7-related condition	NA|227500|NA|608446;227500|227500|NA	NA|NA|NA|NA;327|327|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/420159	420159	000479479|000779130|001843424|002496859|003147479|003419797	408803	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	rs121964927	113773030	113773030	13q34	G	T	Pathogenic/Likely pathogenic	NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	F7	not provided|Factor VII deficiency|See cases|Congenital factor VII deficiency	NA|227500|NA|227500	NA|NA|NA|327	http://www.ncbi.nlm.nih.gov/clinvar/variation/265135	265135	000254994|000714620|002252070|002280876	260038	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	rs1595080617	113773035	113773035	13q34	C	T	Likely pathogenic	NM_019616.4(F7):c.1048C>T (p.Gln350Ter)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/626975	626975	000851661	615533	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113773044	113773044	13q34	C	T	Likely pathogenic	NM_019616.4(F7):c.1057C>T (p.Arg353Trp)	F7	F7-related condition	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2634242	2634242	003417106	2797381	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs531225271	113773072	113773072	13q34	C	T	Pathogenic/Likely pathogenic	NM_019616.4(F7):c.1085C>T (p.Thr362Met)	F7	not provided|Factor VII deficiency|Congenital factor VII deficiency	NA|227500|227500	NA|NA|327	http://www.ncbi.nlm.nih.gov/clinvar/variation/420160	420160	000482463|001095705|003313784	408804	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	rs1595080725	113773081	113773081	13q34	T	C	Likely pathogenic	NM_019616.4(F7):c.1094T>C (p.Met365Thr)	F7	Abnormality of coagulation|Abnormal bleeding	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627214	627214	000852000|000851999	615534	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs121964934	113773086	113773086	13q34	T	G	Pathogenic	NM_019616.4(F7):c.1099T>G (p.Cys367Gly)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12085	12085	000012866	27124	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113773092	113773092	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.1105G>A (p.Gly369Ser)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1330279	1330279	001801311	1320959	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs121964936	113773145	113773145	13q34	T	G	Likely pathogenic	NM_019616.4(F7):c.1158T>G (p.His386Gln)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12088	12088	000012869	27127	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113773161	113773161	13q34	G	T	Pathogenic	NM_019616.4(F7):c.1174G>T (p.Gly392Cys)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12089	12089	000012870	27128	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113773177	113773177	13q34	C	T	Pathogenic	NM_019616.4(F7):c.1190C>T (p.Thr397Met)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12071	12071	000012852	27110	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113773193	113773193	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.1206G>A (p.Trp402Ter)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1703834	1703834	002280993	1696219	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs755377592	113773206	113773206	13q34	G	A	Likely pathogenic	NM_019616.4(F7):c.1219G>A (p.Ala407Thr)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/374352	374352	000415275	361209	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113773250	113773250	13q34	C	G	Pathogenic	NM_019616.4(F7):c.1263C>G (p.Tyr421Ter)	F7	Congenital factor VII deficiency	227500	327	http://www.ncbi.nlm.nih.gov/clinvar/variation/1322861	1322861	003147660	1313158	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113773259	113773259	13q34	G	A	Pathogenic	NM_019616.4(F7):c.1272G>A (p.Trp424Ter)	F7	Factor VII deficiency	227500	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1098448	1098448	001420380	1087225	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs750457207	113773309	113773309	13q34	GC	G	Pathogenic/Likely pathogenic	NM_019616.4(F7):c.1325del (p.Pro442fs)	F7	Factor VII deficiency|Abnormal bleeding|not provided|Congenital factor VII deficiency|Myocardial infarction, susceptibility to;Congenital factor VII deficiency	227500|NA|NA|227500|608446;227500	NA|NA|NA|327|NA;327	http://www.ncbi.nlm.nih.gov/clinvar/variation/626999	626999	000851926|000851695|001091745|002245647|002507337	615535	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113783814	113783814	13q34	G	C	Likely pathogenic	NM_000504.4(F10):c.119G>C (p.Arg40Thr)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/2572121	2572121	003313859	2737067	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113783835	113783835	13q34	A	G	Pathogenic	NM_000504.4(F10):c.140A>G (p.Glu47Gly)	F10	Factor X deficiency	227600	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12063	12063	000012843	27102	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs121964944	113783856	113783856	13q34	A	G	Likely pathogenic	NM_000504.4(F10):c.161A>G (p.Glu54Gly)	F10	Hereditary factor X deficiency disease|Factor X deficiency	227600|227600	328|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627253	627253	000852044|001824369	615537	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113783856	113783857	13q34	GAA	G	Pathogenic	NM_000504.4(F10):c.162_163del (p.Glu56fs)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/1684308	1684308	002245314	1676237	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113783900	113783900	13q34	G	A	Likely pathogenic	NM_000504.4(F10):c.205G>A (p.Glu69Lys)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/1684307	1684307	002245313	1676236	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113783907	113783907	13q34	T	C	Likely pathogenic	NM_000504.4(F10):c.212T>C (p.Phe71Ser)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/2572143	2572143	003313881	2737089	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113783909	113783909	13q34	G	C	Pathogenic	NM_000504.4(F10):c.214G>C (p.Glu72Gln)	F10	Factor X deficiency	227600	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12065	12065	000012845	27104	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113790208	113797714	13q34	GGACTTTATCAAAATTAAAACCTTTTGCACTTCAGAAATAAACACTGTTAAGAGGATGAAAATACAAGCTACAAACTAAGAGAAAATATTTGCAAATCACATATCCAACAAAGGAATCATATTCGGAATATATAAAGAAATCTTAACAGATCAGAAGAAGAAAATAAACACTCAGTTAAACAAAAGACCTTAACAGCCAACTCGCCAAAGAGGATATATGGATAGAAAATAAACATGTGAGAAGATACTCAACATTATTAGCTCTTACAGAAATGCAGATAAAAACCACAATAAGAACGACTATATACTCATAGAGTAAAAAACACTGACACAGAACAGCGCTGGTTAAGACACGGAGAAAGCAGAACTTTGATACACTGCTCGTGGGAATGCAAAATGGCACGGCCACTTTGAAAAGGAATTTGACAGTTTCTTATAAAGTTATATAAGGTTACCACAGGACTCGGCAATCCCATTTCTGGGCATTTACCCTAGAGAAATGAAAACTTATTTCCACATAAAATCCTGTACATAAATGTCTATAGCAACTCTAGTCTTTTTTTTTTTTTTTAATTTTTATTTTTTGAGACAGAGTCTTCCCGTTGCCCAGGCTGGGGTGCAATGGCACAATCTCGGCTCACTACAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGGCAGGCTAATTCTTGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATTCTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGGCACCACGCCTGGCCAGCAACTCTATTCTTAATTGCCAAAAGCTGGAAGTAAGATAAATGTCTTTTGCTGGGTGTACCCATACAATATAACAGTTGTCAGCAACAACAAGTAAGAAAGTATTGATACAACTTGCATGAATTTCAAAGGCTTTGTATTGAATGAAAAGCTAGTTTCACAAGGTCCTATAATAAACACTTTCATTTACATGACATGCTCAATAGGTTGTTATCATTGTGATAAAGAATAGATTAGTGGTGGGACAGGGTTTGCCAAGGGTTGGCAGGTGGGGGAGATGGCATGGGGTATTTGGGGGGGAAGGATGGACCTGTACTGCATCCTGATGATGCTGGTGGCTACAGAAGTCTCTCCATGTGTTGAAATTCATAGAAGTGTACACCAAAACATTGGTTTTGCTGTGTGAGAATTTTAAAAGTAAAAAAGTAAGAAGATAGTGTATTTGCTTCCTAGGGCAACCATAACAAAGCACTACAAACGCCTTAAAATAACAGGGATTTATTGTCGCAGCTTTGGAGACAAGTCTGAAATTAGGGTGTCAGCAGTGTTGGTTCCTTCTGGAGGCTCTGGGAGAGTCTCTGTCCCAGGCTCTCTGCTCGCTTCCAGGAGCACCCGGCAATCATGGGCATCCTTGGGCTGCGGACGCGTCGCTCCTGTCTCTGCTTTCATCTTCGCATGGCCTTCTCTCTCTGTGCCTCTGTGTGACTTTTTCTGTCTCTTATAAGGACTTTCTCCTTTATTTAGGGCCCACACTGACCCAGCATGATCTCTTCTACAGCCTTGGCTTAGTTAACATCTGCAAAGACCCGATTTCCAATTAAGGTTCTATTCTGAGGCTGCAGGTGGACCTGAATTAGCAGGGAGGGCACTATTCAACCAACTGTAGAGAGTTAAAAAACAATAAGCCTGTGGACATTTTTTAGCGTAATCTAGGCTCTTGATGACCTGTTTTAAACTAATCAGCAATGAATATTTTTCAGCTAACGTAATGACTATTGACAAGCACGTGACCCTTGTCTGAATGTTAACTCAGGCATAGCAACTAAAAACCATCCATTGACCAGCTCGGGAGTAGCAAACAGAGCAAGCCATTCTTGGTGCAACCTGTTTCTAGGTAATTAACTTGAAAATATTTTCAATATTCAACAAAGATGGTTCATTTAAGATGACTGAAGCCACATCTTCACAGATGCAGAAGATCTGAATAGCTTTCCTCTTTAGATTGAATAGTTCTAGAACAATTCATTCCTAAAAGTGACTTCCATTGGGGAAAATATCCTATTCAGCTTGAGTCACTTAATTATGGTTGTTATTGGTATAAAATGTCTCTGTTTTCCCTAATATATTTTTAAATTTCTTTTTTCCTTTTAGAATGAATTCTGGAATAAATACAAAGGTCAGTATTTTTTCTGTTTTAACCTTCAGTGAGAGGGGTTCATCAGGATATTTGAATTTTGAAAATAGTTCCTGAATTTCCTTTCTGCTTTTGTTCTCATTTTACTCATTTAAGACTTTTTCCCTCAGGGTGTTTCCATAATAGTTATTGTAAAAGAGTTTTTAGAGTAATTTTATACTAATCCTAGTTTTGTTATTGAGTTAGAGATATATATTTAAATCAGTTCATTCTCATTTGAGGATACCAAATTCCATGATAACTTTTCTTAAATAAAAGTGTATTCGGTAAAAGCAAAAAACAGAGTCTGAAAGATTAGATTCCCGACTAAGGTAACCACCTTGATTTAATGCTTAATAGCATCTGAAGTGGCCTCAGTCATGACTACCTGGTAACAGTATTCACATTTCTCAAAATGACAACTGGGCCTATCTCTAAATGAGATTGTGTAAATCCTCCAAGAAATGGGAAGCCCCGTGTTAGTGTTTGCCTTCTCCTTTTGCCCCAGGATGATTTGGAAAGAGGAACCCTAACCTCCTCTCCCGTCAAGGCCCAGCCCAGAAATGAGCATCAGGCTCTCACCTTTCCTCCATCCTTCCAGTTGGTCCCTGTGGTCACCTCTGACTGTAAACACACTGCAAAACACCGGCAAAAATCAAAAAGCTGGGCCGGTGATCCACCTAGATAAAGGCATCACGTACACATGGCCACAAAAGGGGGTGGATCAAATAAAGTCCAAAGAGGGGGAGTTGTTTACAGAGAAACCGGAAGACTCTTCCAGTTATCTGAACGGCAGGGCCAAGGTTAGCACAGCAAAACTGTTTCCATGATGCCGGAAACAGCTTGCAGACTCCAGTTTCGAAATCCTCTCTTTGCAGATGGCGACCAGTGTGAGACCAGTCCTTGCCAGAACCAGGGCAAATGTAAAGACGGCCTCGGGGAATACACCTGCACCTGTTTAGAAGGATTCGAAGGCAAAAACTGTGAATTATGTAGGTTCCTCTGCTTGGTATACCTTCAGATCAGATGCCCCTGAAGAGTGGCAGGTGGGCGGGGGAAGAAGTGAAAACGCCTAATGAAACAATCTTAAGTCATTTCTGATTTACAAAGTCTGGGCTCTATTATACCTATTATACTGTGCCACTATAGCAATAGAAAAAAAAGCCCCAATATGTCCCCCAAACGATTCGGTTTGGGGGCATGATGAGAGAGACACAGTCACTTCTCTGCTCCTCCGAGAGAGACTGTAGAACATTGATGAAGCGTGTGATCCATTCATGTGTAAACAGGAGTGGACTCTCTGTTTTCCTTGGGGCCAAGTGCATTGCCCTGTTATTCCTGCTCCTTGTGACCCTGTGCAGTGATTCTAAATCACCTCTTATTTATGTGTATGGATGCAGGTGTCAATATTTGTGAATATTTGTGATTGGCCAATTATAAAAATTTGATACATTTAATTAGTTCTACGTGGAAAAATCACTAAGTGCTTTCTCTAATGTGGTGATTAAGTTTTAAATAAAAAGTTAGGCTACTGTTAGATCAATTTCCCTAAGGAAAAAGATTTGCATTTCTTTTAAAGTACTTAATTGATCATCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTGGCCCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACCGCAAGCTCCGCCTGCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCCCCGGCCACCAGTCCCGGCTAATTTTTTTTTTTTTTAATTTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCTTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGGCACAGCGCCGGCCTAATTGATCATCTTTAGACTGTGTTCTTAGATTGGATTACTTTTGAGTTTTCCCTGATGAGAATATCAATTACGCATCATTCCATTCCAAGTCCGCAGTCGCCTCCCTGGAACACCATTTGGTAACTTATGAGGCATAACCCTGTTCAGGCTCCCAGGGCTATTATGCACATTTTCTAAAATTTCAGGCATGTTGATCTTTGCACTGTGATTACTTTTTCATCAAAAGCCACACAGAGGGATGTGGAGTGACCGTAATGTGAGTGCTGCTGGGGCAGGGGGTACCGGCCATCCCGGAGGTGTGAGGGGCAGGTACCTGGAGCCTGGCTTCTGGCTACACCGGGCACTGCACCATGAGCTCCCCGTGACCCGTGAGGTTGCCCTTCAAGGCAAGTGTACCTGTCGCCTGGCTCTGGCCCTTTGCTCAACCCAATGGCCGCTTTGTGGCTGACAGGCAAGTGGATGTAGCTGGCACCCTTGGGCCAGCCCAGCCTCCATTTCTCCAGCTGTCCCCAGAGCCAACGTGCCTCTCCTTTGCAGTCACACGGAAGCTCTGCAGCCTGGACAACGGGGACTGTGACCAGTTCTGCCACGAGGAACAGAACTCTGTGGTGTGCTCCTGCGCCCGCGGGTACACCCTGGCTGACAACGGCAAGGCCTGCATTCCCACAGGTAGGAGGCACGTTGGGCCACAGCCACCCGCTGCCGCTGGGCCGGGCCAGGGAGGACAAGCCCGTGCCAGGGGGTGGGGACACAGGCATGTTCTGGGCGGGCCTGGCAGGTAACAGTGACACCAAGAGGACAGGACTGAGCCCTGGGCTCCGGGCCCAGGTGGTTCAAACATGAAGACCATGAGGTTTGGAAACAGACCCATTATTTCTGTAAGCCAGATCTGCTGTTTAACCTCAGCTTCCCCATCTGACAAATGGGACCAACACTATTGCCTGACTGCTTGGGTGATCCCTGGAGCACTTTGCATGATGCCTGGCCCACCGCAGGCCCTCAGTCTGCATTGGGACTGTGGGGGGATCCAGTGCAAGGGCTCAAAGCACCAGGGCAGGCAAAGGGCAGAGCTGGCCCGAGGAACTGGAGCTAAGGTGCGGGGCTGGGATAGGAGTCAGGGGACGCTCAGGCTCTGAGCTCCTTTTACCAGGACCAGTGTTCATTGAACGTAGTTTTTCTTTTCCTTGATGAATGTGGACAACAGGCGGCCAGAGGGCAGTGAGCACAGGACAGGCAGGGGACTGGGCAGGGTGGGGACGAGCCTCCCTGTCCTGACCCCGTGGGCATTGCCTACGCTGGGCTTGCCTGGCTGCCGGCACTTCCACACGGCCAGCACACATGAGGCCCTCGAAGGCGGGGCCTAGGCGTCACAGCTGCACCTTGCACAGCAACCCCACTCCCACTCATAGCTGGCCCGACCCGCAGCGTTGGCCTCACCCGGGGGCATATTCGAAGGGCAGAGTTCCAGGCCCGCCTTTTCAAGAGCCTGGTGACCCAGCTCACCTTCCGGCTTCAGGTGCGGCTCAGCCCCCAGACCGTGTTCTGCCCCCGGCTACCATGACTGTCCCCTCCAGACACAGGTTACTCCCGAGTGTTCTGTCACTCTTCCTTTCATATCCTTCTTACCGAAAACAATTTACTTCCAAAGATGAGTGATCACGAAAAGACCGGGTTCCATATGCATCCTTCAAGCGCTGCTTCAATTATGTGCCTGAAACATCTCAGCAAGTGAAAGACACTGTGGCTGACCTTGCTACTGGCAATGACATTCAAGCTTAAGCTGGTTAAAAAATATTTTAACTGAAGTCATTTCTTGACATACACACGAATATTTTTTAATTCTAGAAACAATCACAAATCCATTTAAAACCAAGTGTGGGCCGGGTGCAGTAGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAAGAGAATGGCGTGAACCTGGAAGGCGGAGCTTGCACTGAGCACTGAGCCGAGATTGCGCCACTGCGCTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATCAAAAGGCAAATGTGATGTGTGAAAATAAAATTACATAATCTACTTTGTAGTGCAAAAAGTTCAGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATAAAAAAAAAAATACAAAAACTTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGTGGAGGTTGCAATGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGAGACAAGAGAGAAACTCCATCTCAAAAAAAAAAAAAAGTTCAGTTCCAAATAATGGATGAACTCAGAACTTGGAAGGGTGGTGACTGCACACATGGACAGAGCTGAGGCACGGCGGGGTGGAGGCCCCTGCGGCTGGCAGATTCACCGGAGCCTCCTCAGACTGCGCAGGAGCACAGCAAGTAAACAGCTAAGCTGTGCCCATCTGACCCCAGACACGTGTGGCCACAGAGAAGCCCCTTGCCATCCATTCCCCCCTCCTCTCCTCTCCTGCTCCCCCACACCCCTGCCTTCCTCCAACATGTTTCAGCCATTCTCTTGGCCTTGGTGCCCTAATTGGCCGTTATACAAAAGGAAGCTTCCTAACATCTCGGCGTGGCCTCTCTGGGAGCTGTGCTATTCCAGACGCTCTCCTGTGCCTCCAGTTGTTTGCGTGCGCCATTCCTTCTGCCTGAAAACTTTTTTTTCTTCAATGTTTCATTAGGAAAAGTTT	G	Likely pathogenic	NM_000504.4(F10):c.232-2563_503-451del	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/1703258	1703258	002280380	1695649	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113793670	113793670	13q34	G	C	Likely pathogenic	NM_000504.4(F10):c.257-1G>C	F10	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067302	1067302	001378524	1056145	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs368225671	113795262	113795262	13q34	G	A	Likely pathogenic	NM_000504.4(F10):c.400G>A (p.Gly134Arg)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/627060	627060	000851777	615539	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113798172	113798172	13q34	AC	A	Pathogenic	NM_000504.4(F10):c.513del (p.Cys172fs)	F10	Factor X deficiency	227600	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1098484	1098484	001420416	1087234	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs1595098100	113801643	113801845	13q34	CAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGG	C	Likely pathogenic	NM_000504.4(F10):c.748-50_865+35del	F10	Abnormal bleeding	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/627495	627495	000852256	615850	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs387906506	113801758	113801758	13q34	TC	T	Pathogenic	NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer)	F10	Factor X deficiency	227600	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12054	12054	000012834	27093	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113801782	113801782	13q34	C	A	Pathogenic	NM_000504.4(F10):c.837C>A (p.Tyr279Ter)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/1684490	1684490	002245496	1676419	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs121964948	113801804	113801804	13q34	A	T	Pathogenic	NM_000504.4(F10):c.859A>T (p.Arg287Trp)	F10	Factor X deficiency	227600	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12059	12059	000012839	27098	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113803376	113803376	13q34	G	A	Pathogenic	NM_000504.4(F10):c.1012G>A (p.Val338Met)	F10	Factor X deficiency	227600	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12056	12056	000012836	27095	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113803400	113803400	13q34	C	T	Likely pathogenic	NM_000504.4(F10):c.1036C>T (p.Arg346Cys)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/2572129	2572129	003313867	2737075	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113803437	113803437	13q34	C	T	Likely pathogenic	NM_000504.4(F10):c.1073C>T (p.Thr358Met)	F10	Hereditary factor X deficiency disease|Factor X deficiency	227600|227600	328|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1679953	1679953	002236395|002267785	1671867	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs1595099527	113803451	113803451	13q34	G	A	Likely pathogenic	NM_000504.4(F10):c.1087G>A (p.Gly363Ser)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/626966	626966	000851652	615542	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	rs104894392	113803460	113803460	13q34	C	T	Pathogenic	NM_000504.4(F10):c.1096C>T (p.Arg366Cys)	F10	Factor X deficiency	227600	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12053	12053	000012833	27092	no assertion criteria provided
rs3011523	chr13	113172707	114172707	NA	113803461	113803461	13q34	G	A	Likely pathogenic	NM_000504.4(F10):c.1097G>A (p.Arg366His)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/1684310	1684310	002245316	1676239	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs1085307979	113803469	113803469	13q34	G	A	Likely pathogenic	NM_000504.4(F10):c.1105G>A (p.Glu369Lys)	F10	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/427136	427136	000489706	415370	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113803484	113803484	13q34	T	C	Pathogenic	NM_000504.4(F10):c.1120T>C (p.Ser374Pro)	F10	Factor X deficiency	227600	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12060	12060	000012840	27099	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs1595099645	113803574	113803574	13q34	T	C	Likely pathogenic	NM_000504.4(F10):c.1210T>C (p.Cys404Arg)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/626923	626923	000851584	615543	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113803580	113803580	13q34	G	A	Pathogenic	NM_000504.4(F10):c.1216G>A (p.Gly406Ser)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/1341356	1341356	001834560	1332564	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113803611	113803611	13q34	A	T	Likely pathogenic	NM_000504.4(F10):c.1247A>T (p.Gln416Leu)	F10	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1163549	1163549	001508719	1152531	criteria provided, single submitter
rs3011523	chr13	113172707	114172707	NA	113803616	113803616	13q34	G	C	Likely pathogenic	NM_000504.4(F10):c.1252G>C (p.Asp418His)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/1684309	1684309	002245315	1676238	no assertion criteria provided
rs3011523	chr13	113172707	114172707	rs1595099844	113803712	113803712	13q34	G	A	Likely pathogenic	NM_000504.4(F10):c.1348G>A (p.Gly450Arg)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/626926	626926	000851588	615546	criteria provided, multiple submitters, no conflicts
rs3011523	chr13	113172707	114172707	NA	113803715	113803715	13q34	A	C	Likely pathogenic	NM_000504.4(F10):c.1351A>C (p.Ile451Leu)	F10	Hereditary factor X deficiency disease	227600	328	http://www.ncbi.nlm.nih.gov/clinvar/variation/1676735	1676735	002222132	1668335	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	62146656	64747263	15q22.2-22.31	NA	NA	Pathogenic	NC_000015.9:g.(?_62146656)_(64747263_?)del	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2424797	2424797	003107781	1949874	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs1595819527	63907968	63907968	15q22.31	CT	C	Likely pathogenic	NM_003922.4(HERC1):c.14093del (p.Gln4698fs)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/817684	817684	001008890	805836	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs757446033	63907989	63907989	15q22.31	C	G	Pathogenic	NM_003922.4(HERC1):c.14072G>C (p.Arg4691Pro)	HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	457359	http://www.ncbi.nlm.nih.gov/clinvar/variation/984952	984952	001265603	973050	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs769677823	63915976	63915976	15q22.31	C	T	Pathogenic	NM_003922.4(HERC1):c.13559G>A (p.Gly4520Glu)	HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	457359	http://www.ncbi.nlm.nih.gov/clinvar/variation/243011	243011	000235003	244092	no assertion criteria provided
rs8038900	chr15	63679408	64679408	NA	63918306	63918306	15q22.31	TG	T	Likely pathogenic	NM_003922.4(HERC1):c.13153del (p.Gln4385fs)	HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	457359	http://www.ncbi.nlm.nih.gov/clinvar/variation/2431461	2431461	003140515	2404965	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs1555404908	63918311	63918312	15q22.31	GG	T	Likely pathogenic	NM_003922.4(HERC1):c.13147_13148delinsA (p.Pro4383fs)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/524150	524150	000627648	514679	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	63922663	63922663	15q22.31	A	C	Likely pathogenic	NM_003922.4(HERC1):c.12966+2T>G	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067092	1067092	001378260	1056248	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	63941924	63944740	15q22.31	NA	NA	Pathogenic	NC_000015.9:g.(?_63941924)_(63944740_?)del	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1073073	1073073	001385958	1057705	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs1085307759	63944666	63944666	15q22.31	C	T	Likely pathogenic	NM_003922.4(HERC1):c.10365G>A (p.Trp3455Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/426718	426718	000490069	415442	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs757749585	63948073	63948073	15q22.31	G	A	Likely pathogenic	NM_003922.4(HERC1):c.9952C>T (p.Arg3318Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/620501	620501	000760884	611796	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	63948105	63948105	15q22.31	G	C	Likely pathogenic	NM_003922.4(HERC1):c.9920C>G (p.Ser3307Ter)	HERC1	See cases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1690832	1690832	002252424	1683240	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs753780877	63948409	63948409	15q22.31	G	A	Pathogenic	NM_003922.4(HERC1):c.9748C>T (p.Arg3250Ter)	HERC1	Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability|Macrocephaly, dysmorphic facies, and psychomotor retardation	NA|617011	NA|457359	http://www.ncbi.nlm.nih.gov/clinvar/variation/188045	188045	000186608|000235006	185937	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	63948415	63948415	15q22.31	G	A	Likely pathogenic	NM_003922.4(HERC1):c.9742C>T (p.Arg3248Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2575045	2575045	003319942	2739980	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	63956668	63956668	15q22.31	C	A	Likely pathogenic	NM_003922.4(HERC1):c.8680+1G>T	HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	457359	http://www.ncbi.nlm.nih.gov/clinvar/variation/2440691	2440691	003145992	2415050	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	63966616	63966616	15q22.31	G	A	Pathogenic	NM_003922.4(HERC1):c.7771C>T (p.Arg2591Ter)	HERC1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2293157	2293157	002854643	2276909	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	63966685	63966685	15q22.31	G	A	Pathogenic	NM_003922.4(HERC1):c.7702C>T (p.Arg2568Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1986254	1986254	002805469	2036404	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	63966987	63967379	15q22.31	AGAAAATGAAGCGATTTCATTTTCTGATTTGGAGCTTGTGGTACTCTGACTTTTGACGTCATCAGATGTTAGGCCTGTTCGCATATCTAAAGCGGATTCACTCTCAGGTTTCTGCTCAACATCCCCTTTCTCCTCGGATTCATGTCGGTGTTTCTTTTCATGTCGTTTGGTGCTCTGTTTGCCCATGTCTTCATGAACGCCAGTGAGATATGTTAGGTCCAGCAGCACAGAAGCCGTCAGGCCTCGGAATCGCGCCACATCAAACGGCAATGGTTCACAGGGTTCCAGATTATACAATGGAGTATCACTAGGCGACCAAAAAGTTGGGAAGCTTTAATAAAGATCAGAATGACACAGGAAGAAGCAAGTGAGGGAAAGACGGGAGGAAGGTACG	A	Likely pathogenic	NM_003922.4(HERC1):c.7071-63_7400del	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1495664	1495664	002028324	1462713	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs1555417272	63970075	63970075	15q22.31	AC	A	Likely pathogenic	NM_003922.4(HERC1):c.7039del (p.Val2347fs)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/452323	452323	000520328	445399	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs1131691853	63970441	63970441	15q22.31	G	A	Likely pathogenic	NM_003922.4(HERC1):c.6673C>T (p.Arg2225Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/430242	430242	000494612	422042	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs1064796508	63970463	63970463	15q22.31	GA	G	Likely pathogenic	NM_003922.4(HERC1):c.6651del (p.Gln2218fs)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/423585	423585	000486779	409314	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs774206954	63970528	63970528	15q22.31	G	A	Pathogenic/Likely pathogenic	NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/992326	992326	001280754	980272	criteria provided, multiple submitters, no conflicts
rs8038900	chr15	63679408	64679408	NA	63987051	63987051	15q22.31	G	A	Pathogenic	NM_003922.4(HERC1):c.5164C>T (p.Gln1722Ter)	HERC1	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2230986	2230986	002703098	2216546	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs797045141	63988540	63988540	15q22.31	T	G	Likely pathogenic	NM_003922.4(HERC1):c.4906-2A>C	HERC1	Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability|Macrocephaly, dysmorphic facies, and psychomotor retardation	NA|617011	NA|457359	http://www.ncbi.nlm.nih.gov/clinvar/variation/208859	208859	000190895|000235008	205420	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	64005619	64005619	15q22.31	G	A	Pathogenic	NM_003922.4(HERC1):c.4396C>T (p.Arg1466Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2577836	2577836	003325173	2742728	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	64005742	64005742	15q22.31	G	A	Likely pathogenic	NM_003922.4(HERC1):c.4273C>T (p.Arg1425Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1201996	1201996	001567529	1191701	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs1064794786	64010774	64010774	15q22.31	C	T	Likely pathogenic	NM_003922.4(HERC1):c.3977G>A (p.Trp1326Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/420912	420912	000478797	409315	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs879253786	64026944	64026944	15q22.31	C	T	Pathogenic	NM_003922.4(HERC1):c.2625G>A (p.Trp875Ter)	HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	457359	http://www.ncbi.nlm.nih.gov/clinvar/variation/243010	243010	000235009	244091	no assertion criteria provided
rs8038900	chr15	63679408	64679408	rs1205782054	64050412	64050412	15q22.31	G	A	Pathogenic	NM_003922.4(HERC1):c.1183C>T (p.Gln395Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/853776	853776	001058656	842576	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs2076073941	64067142	64067142	15q22.31	AT	A	Pathogenic	NM_003922.4(HERC1):c.681del (p.Gly231fs)	HERC1	Inborn genetic diseases|not provided	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/985585	985585	001266567|002542848	973963	criteria provided, multiple submitters, no conflicts
rs8038900	chr15	63679408	64679408	NA	64067507	64067507	15q22.31	G	A	Pathogenic	NM_003922.4(HERC1):c.316C>T (p.Arg106Ter)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1074278	1074278	001387515	1063390	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	64067618	64067618	15q22.31	GA	G	Pathogenic	NM_003922.4(HERC1):c.205del (p.Ser69fs)	HERC1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1972510	1972510	002746254	2026069	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs398122834	64448307	64448310	15q22.31	GCTGT	G	Pathogenic	NM_000942.5(PPIB):c.563_566del (p.Asp188fs)	PPIB	Osteogenesis imperfecta type 9	259440	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/41422	41422	000034321	49860	no assertion criteria provided
rs8038900	chr15	63679408	64679408	rs137853869	64448314	64448317	15q22.31	GTCTT	G	Pathogenic	NM_000942.5(PPIB):c.556_559del (p.Lys186fs)	PPIB	Osteogenesis imperfecta type 9|not provided|Osteogenesis imperfecta	259440|NA|NA	NA|NA|666	http://www.ncbi.nlm.nih.gov/clinvar/variation/16925	16925	000018433|000024535|002307366	31964	criteria provided, multiple submitters, no conflicts
rs8038900	chr15	63679408	64679408	NA	64448923	64448923	15q22.31	C	G	Likely pathogenic	NM_000942.5(PPIB):c.528+1G>C	PPIB	Osteogenesis imperfecta	NA	666	http://www.ncbi.nlm.nih.gov/clinvar/variation/1698658	1698658	002271935	1691034	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs121434559	64449001	64449001	15q22.31	G	A	Pathogenic	NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)	PPIB	Osteogenesis imperfecta type 9|not provided	259440|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/16926	16926	000018434|000024534	31965	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	64449017	64449018	15q22.31	CTT	C	Pathogenic/Likely pathogenic	NM_000942.5(PPIB):c.434_435del (p.Lys145fs)	PPIB	Osteogenesis imperfecta type 9|not provided	259440|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1344893	1344893	001849895|003120724	1336665	criteria provided, multiple submitters, no conflicts
rs8038900	chr15	63679408	64679408	rs1555496051	64449034	64449035	15q22.31	T	TGCTC	Likely pathogenic	NM_000942.5(PPIB):c.414_417dup (p.Met140fs)	PPIB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/423387	423387	000485763	409316	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs748284900	64449109	64449109	15q22.31	C	A	Likely pathogenic	NM_000942.5(PPIB):c.344-1G>T	PPIB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/993834	993834	001812921	981926	criteria provided, multiple submitters, no conflicts
rs8038900	chr15	63679408	64679408	rs137853867	64452302	64452302	15q22.31	C	T	Pathogenic	NM_000942.5(PPIB):c.343+1G>A	PPIB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/31845	31845	000024539	40505	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	NA	64452333	64452333	15q22.31	C	G	Likely pathogenic	NM_000942.5(PPIB):c.313G>C (p.Gly105Arg)	PPIB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1910582	1910582	002587789	1969507	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs137853866	64452333	64452333	15q22.31	C	T	Pathogenic/Likely pathogenic	NM_000942.5(PPIB):c.313G>A (p.Gly105Arg)	PPIB	not provided|Osteogenesis imperfecta type 9|Osteogenesis imperfecta	NA|259440|NA	NA|NA|666	http://www.ncbi.nlm.nih.gov/clinvar/variation/31844	31844	000024538|000202406|003114203	40504	criteria provided, multiple submitters, no conflicts
rs8038900	chr15	63679408	64679408	NA	64454245	64454246	15q22.31	CT	G	Likely pathogenic	NM_000942.5(PPIB):c.243_244delinsC (p.Gly82fs)	PPIB	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1300581	1300581	001732505	1290864	criteria provided, single submitter
rs8038900	chr15	63679408	64679408	rs137853865	64455066	64455066	15q22.31	TG	T	Pathogenic	NM_000942.5(PPIB):c.120del (p.Val42fs)	PPIB	not provided|Osteogenesis imperfecta type 9	NA|259440	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/31843	31843	000024537|000202411	40503	no assertion criteria provided
rs8038900	chr15	63679408	64679408	rs137853864	64455160	64455160	15q22.31	A	C	Pathogenic	NM_000942.5(PPIB):c.26T>G (p.Met9Arg)	PPIB	Osteogenesis imperfecta type 9|not provided	259440|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/16927	16927	000018435|000024544	31966	no assertion criteria provided
rs12967833	chr18	75564367	76564367	NA	73376178	78077248	18q23	NA	NA	Pathogenic	NC_000018.9:g.73376178_78077248del4701071	TXNL4A	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	608572	1200	http://www.ncbi.nlm.nih.gov/clinvar/variation/242603	242603	000239622	188239	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs1599744167	41762481	41762481	19q13.2	C	G	Likely pathogenic	NM_021913.5(AXL):c.2161C>G (p.Leu721Val)	AXL	NK-cell enteropathy	NA	263665	http://www.ncbi.nlm.nih.gov/clinvar/variation/638632	638632	000791317	626404	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs1336387628	41836971	41836971	19q13.2	A	G	Likely pathogenic	NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	TGFB1	Encephalopathy;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome|Inflammatory bowel disease, immunodeficiency, and encephalopathy	NA;NA|618213	NA;238569|565788	http://www.ncbi.nlm.nih.gov/clinvar/variation/488346	488346	000584756|000723356	481175	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1057521741	41838150	41838150	19q13.2	G	C	Likely pathogenic	NM_000660.7(TGFB1):c.897C>G (p.Tyr299Ter)	TGFB1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/383807	383807	000445099	376563	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs104894719	41848114	41848114	19q13.2	A	G	Pathogenic	NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)	TGFB1	Diaphyseal dysplasia	131300	1328	http://www.ncbi.nlm.nih.gov/clinvar/variation/12528	12528	000013354	27567	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs104894722	41848120	41848120	19q13.2	A	C	Pathogenic	NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly)	TGFB1	Diaphyseal dysplasia	131300	1328	http://www.ncbi.nlm.nih.gov/clinvar/variation/12530	12530	000013356	27569	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs104894722	41848120	41848120	19q13.2	A	G	Pathogenic	NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg)	TGFB1	Diaphyseal dysplasia	131300	1328	http://www.ncbi.nlm.nih.gov/clinvar/variation/12533	12533	000013359	27572	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs104894720	41848134	41848134	19q13.2	C	T	Pathogenic	NM_000660.7(TGFB1):c.653G>A (p.Arg218His)	TGFB1	Diaphyseal dysplasia|not provided	131300|NA	1328|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12529	12529	000013355|001851823	27568	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs104894721	41848135	41848135	19q13.2	G	A	Pathogenic	NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)	TGFB1	Diaphyseal dysplasia|not provided|See cases	131300|NA|NA	1328|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/12531	12531	000013357|001794443|003156058	27570	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1599893542	41854204	41854204	19q13.2	T	C	Likely pathogenic	NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)	TGFB1	Diaphyseal dysplasia	131300	1328	http://www.ncbi.nlm.nih.gov/clinvar/variation/803561	803561	000990219	791932	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs200482214	41854250	41854250	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys)	TGFB1	not provided|TGFB1-related condition	NA|NA	NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1498982	1498982	002010359|003426281	47500	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1555755242	41858622	41858622	19q13.2	G	A	Likely pathogenic	NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	TGFB1	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;Encephalopathy|Inflammatory bowel disease, immunodeficiency, and encephalopathy	NA;NA|618213	238569;NA|565788	http://www.ncbi.nlm.nih.gov/clinvar/variation/488345	488345	000584755|000723357	481174	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs111033611	41858709	41858709	19q13.2	A	G	Pathogenic	NM_000660.7(TGFB1):c.241T>C (p.Tyr81His)	TGFB1	Diaphyseal dysplasia	131300	1328	http://www.ncbi.nlm.nih.gov/clinvar/variation/12532	12532	000013358	27571	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs1555755308	41858817	41858817	19q13.2	G	A	Likely pathogenic	NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	TGFB1	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;Encephalopathy|Inflammatory bowel disease, immunodeficiency, and encephalopathy	NA;NA|618213	238569;NA|565788	http://www.ncbi.nlm.nih.gov/clinvar/variation/487577	487577	000584758|000723358	480624	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs750436680	41860670	41860670	19q13.2	C	T	Pathogenic/Likely pathogenic	NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)	B9D2	Familial aplasia of the vermis|Joubert syndrome and related disorders|Joubert syndrome 34	NA|NA|614175	475|140874|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/217556	217556	000201776|001844085|002265681	214371	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1487082103	41860832	41860832	19q13.2	T	G	Pathogenic	NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)	B9D2	Meckel syndrome, type 10|Joubert syndrome and related disorders	614175|NA	564|140874	http://www.ncbi.nlm.nih.gov/clinvar/variation/30931	30931	000023919|003330400	39888	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41860909	41860910	19q13.2	C	CA	Likely pathogenic	NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)	B9D2	Joubert syndrome and related disorders	NA	140874	http://www.ncbi.nlm.nih.gov/clinvar/variation/2501262	2501262	003226859	2524152	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs863225150	41860913	41860913	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)	B9D2	Familial aplasia of the vermis|Joubert syndrome and related disorders|Joubert syndrome 34	NA|NA|614175	475|140874|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/217558	217558	000201694|001844086|002265683	214372	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1568484575	41863848	41863848	19q13.2	G	C	Likely pathogenic	NM_030578.4(B9D2):c.168C>G (p.Tyr56Ter)	B9D2	Meckel syndrome, type 10	614175	564	http://www.ncbi.nlm.nih.gov/clinvar/variation/812149	812149	001002781	800408	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs786204189	41863853	41863860	19q13.2	GCCATGTCC	G	Likely pathogenic	NM_030578.4(B9D2):c.156_163del (p.Asp53fs)	B9D2	Familial aplasia of the vermis|Familial aplasia of the vermis;Meckel-Gruber syndrome	NA|NA;NA	475|475;564	http://www.ncbi.nlm.nih.gov/clinvar/variation/188273	188273	000168253|001850379	186286	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs757863670	41863909	41863909	19q13.2	A	G	Pathogenic	NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)	B9D2	Familial aplasia of the vermis|Joubert syndrome 34	NA|614175	475|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/217557	217557	000201607|002265682	214373	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41869392	41869392	19q13.2	T	CA	Likely pathogenic	NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)	B9D2	Joubert syndrome and related disorders	NA	140874	http://www.ncbi.nlm.nih.gov/clinvar/variation/2501263	2501263	003226860	2524153	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1388769907	41869410	41869410	19q13.2	G	T	Likely pathogenic	NM_030578.4(B9D2):c.15C>A (p.His5Gln)	B9D2	Meckel syndrome, type 10	614175	564	http://www.ncbi.nlm.nih.gov/clinvar/variation/684427	684427	000993853	672017	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41892557	41893580	19q13.2	CCTCTGCAGCGATTCCCGGTAGAAACGGAAGACGTGTTGCGAAGCGGCCTGGGCCGCAGCCAGGCACTGCTGGAGCTGCGGGGGAGAGACTGGTCGGTGCTGGGGGCCGAGCCCTTCATGCACACACGACTTGGCTGACCCAGGAGGTTCTGCTGACCCCACCTGACTCCCTTAACCTCCCATCACTCCCCTGCCCCCAAGTGAGGCAAGTGGTAAGGGATTATTTCCCATTTCATGAACTGTTTCTTAGAGATCAGGAGAAATAAAAAGAGGGAGAAGGACTTCAGGATCAGATTCTGACAGCAACAGGACTCAGACCTATCAGGCATCCTCACACCTTGGAGGAGGCCCCAGCTGTGCAGAGCTATGGAACTGGAGAGTGCACAGAATTGGAGTGGTCTTGGGATTTTACAGCCACAGTCCCCTTCAGCCCAAATAATCTAAGAGCCATGGAATCAAGAGACTCCCAGTCTTCACTGCCATGTATTCCTAGATTCATGAGGTCCAGGTTGGACATGCTTTTGCAGACAGTCATGTCCAAGAGTTTCCAGGCTCTGCCCCTTAGCCTGAGACCTGGAATTCCCATGGCTCACCACTCTGAGCTGGGAGCTGGGGGACCATCACATGCCCTCTTCTGACTTCAAACTGAGCTCATCCTCTTTTTGCCTGTGTTATAAATTGGGCTTCCCTTAAACATTTCCGCAAAGGTTTCTGGGTCCACAAAGTTTGAAAACTCCCTTTTTACAAGAAGAAATTTAAGAGGCTCTCCTGAAGCCTCTCAGAATCCAGGGCAGAGTTGGGACAAGACCGTATGTCAGTGGGAAGGAAGGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCCCTCAGATAAAATCTCAGCCAGTCCTTT	C	Pathogenic	NM_020158.4(EXOSC5):c.526-72_689del	EXOSC5	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	619576	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1300245	1300245	001731248	1290530	no assertion criteria provided
rs4674	chr19	41430396	42430396	NA	41892629	41892629	19q13.2	A	T	Pathogenic	NM_020158.4(EXOSC5):c.617T>A (p.Leu206His)	EXOSC5	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	619576	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1300246	1300246	001731249	1290531	no assertion criteria provided
rs4674	chr19	41430396	42430396	NA	41897789	41897789	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	EXOSC5	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	619576	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1300244	1300244	001731247	1290529	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41897828	41897828	19q13.2	G	T	Pathogenic/Likely pathogenic	NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys)	EXOSC5	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	619576	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1300248	1300248	001731251	1290533	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41903147	41903147	19q13.2	GC	G	Pathogenic	NM_020158.4(EXOSC5):c.87del (p.His30fs)	EXOSC5	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	619576	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1300247	1300247	001731250	1290532	no assertion criteria provided
rs4674	chr19	41430396	42430396	NA	41903723	41903850	19q13.2	NA	NA	Pathogenic	NC_000019.9:g.(?_41903723)_(41903850_?)del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075615	1075615	001389242	1058055	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903723	41916924	19q13.2	NA	NA	Pathogenic	NC_000019.9:g.(?_41903723)_(41916924_?)del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1406283	1406283	001915754	1408304	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903723	41920072	19q13.2	NA	NA	Pathogenic	NC_000019.10:g.(?_41397818)_(41414167_?)del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/832142	832142	001032658	821257	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903723	41930736	19q13.2	NA	NA	Pathogenic	NC_000019.9:g.(?_41903723)_(41930736_?)del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075614	1075614	001389241	1058056	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903729	41903730	19q13.2	C	CAAGATGGCGGTAGCGGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	Pathogenic	NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1996087	1996087	002819464	2056597	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555764014	41903735	41903735	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/556147	556147	000672105	549164	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123494	41903746	41903746	19q13.2	AT	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.14del (p.Ile5fs)	BCKDHA	not provided|Maple syrup urine disease	NA|248600	NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/93349	93349	000173164|001854397	99256	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41903764	41903764	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2445876	2445876	003155795	2418828	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903765	41903765	19q13.2	G	A	Pathogenic	NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1456714	1456714	001951278	1454816	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903771	41903771	19q13.2	TA	T	Pathogenic	NM_000709.4(BCKDHA):c.41del (p.Asn14fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2023162	2023162	002857744	2087484	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903797	41903797	19q13.2	CT	C	Likely pathogenic	NM_000709.4(BCKDHA):c.65del (p.Leu22fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1342424	1342424	001839175	1334001	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903798	41903798	19q13.2	TC	T	Pathogenic	NM_000709.4(BCKDHA):c.67del (p.Leu23fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2172648	2172648	003083151	1904009	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41903809	41903809	19q13.2	CG	C	Pathogenic	NM_000709.4(BCKDHA):c.78del (p.Gln27fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1324386	1324386	001781091	1314658	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1568499702	41903845	41903845	19q13.2	G	C	Likely pathogenic	NM_000709.4(BCKDHA):c.108+5G>C	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/573260	573260	000694889	570808	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41907674	41923655	19q13.2	NA	NA	Pathogenic	GRCh37/hg19 19q13.2(chr19:41907674-41923655)x1	BCKDHA	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/689061	689061	000849752	676653	no assertion criteria provided
rs4674	chr19	41430396	42430396	NA	41916532	41920072	19q13.2	NA	NA	Pathogenic	NC_000019.9:g.(?_41916532)_(41920072_?)del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2423349	2423349	003105284	1945563	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41916541	41916541	19q13.2	G	A	Pathogenic	NM_000709.4(BCKDHA):c.109-1G>A	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1067117	1067117	001378292	1056580	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41916543	41916544	19q13.2	A	ACC	Pathogenic	NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075969	1075969	001389698	1064718	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123489	41916543	41916544	19q13.2	A	AC	Pathogenic	NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)	BCKDHA	not provided|Maple syrup urine disease|Maple syrup urine disease type 1A|Inborn genetic diseases	NA|248600|NA|NA	NA|511|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/166741	166741	000152848|000984155|001826819|002516069	177515	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs398123489	41916544	41916544	19q13.2	AC	A	Pathogenic	NM_000709.4(BCKDHA):c.117del (p.Arg40fs)	BCKDHA	not provided|Maple syrup urine disease|Maple syrup urine disease type 1A	NA|248600|NA	NA|511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93342	93342	000079223|000175640|001193901	99249	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs374625613	41916560	41916560	19q13.2	C	T	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/550878	550878	000665755	549360	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41916563	41916563	19q13.2	C	T	Pathogenic	NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1069052	1069052	001380797	1064719	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs376456598	41916570	41916570	19q13.2	C	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/370729	370729	000409408	358619	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1555765593	41916576	41916576	19q13.2	CT	C	Pathogenic	NM_000709.4(BCKDHA):c.143del (p.Leu48fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/522650	522650	000625789	513375	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs2039242789	41916629	41916629	19q13.2	G	T	Likely pathogenic	NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/984330	984330	001264340	972335	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41916686	41916686	19q13.2	C	T	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1726679	1726679	002310363	1784206	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41916710	41916710	19q13.2	G	T	Pathogenic	NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2104559	2104559	003014725	2162322	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123496	41916722	41916722	19q13.2	G	A	Pathogenic	NM_000709.4(BCKDHA):c.288+1G>A	BCKDHA	not provided|Maple syrup urine disease|Maple syrup urine disease type 1A	NA|248600|NA	NA|511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93351	93351	000079233|000175639|001275909	99258	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41916831	41916832	19q13.2	GCC	G	Likely pathogenic	NM_000709.4(BCKDHA):c.292_293del (p.Pro98fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1725062	1725062	002308121	1782589	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41916857	41916857	19q13.2	C	A	Likely pathogenic	NM_000709.4(BCKDHA):c.318C>A (p.Tyr106Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1726421	1726421	002310105	1783948	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1568503938	41916871	41916871	19q13.2	T	C	Pathogenic	NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/623384	623384	000761534	612330	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs188135164	41916888	41916888	19q13.2	C	T	Likely pathogenic	NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)	BCKDHA	Maple syrup urine disease|Maple syrup urine disease type 1A	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/457143	457143	000526694|001834747	468824	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41916894	41916895	19q13.2	CCT	C	Pathogenic	NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1455786	1455786	001950826	1380046	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2039247540	41916906	41916906	19q13.2	C	T	Pathogenic	NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/961802	961802	001235560	950804	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123499	41916909	41916909	19q13.2	C	T	Likely pathogenic	NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)	BCKDHA	not provided|Maple syrup urine disease	NA|248600	NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/93356	93356	000177087|001854398	99263	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41916910	41916910	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.371G>A (p.Arg124Gln)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1484977	1484977	002008317	1393703	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1057519059	41919977	41919977	19q13.2	C	AA	Pathogenic	NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/374929	374929	000415547	361834	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs1459441231	41919983	41919983	19q13.2	T	A	Likely pathogenic	NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/984331	984331	001264341	972336	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41920004	41920004	19q13.2	TG	T	Likely pathogenic	NM_000709.4(BCKDHA):c.429del (p.Ser144fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1724252	1724252	002306807	1781779	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41920032	41920032	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1685566	1685566	002249293	1677583	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1555766066	41920045	41920045	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.467G>A (p.Gly156Asp)	BCKDHA	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/493261	493261	000585279	486224	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41920047	41920047	19q13.2	C	T	Likely pathogenic	NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1724693	1724693	002309961	1782220	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs869312125	41920048	41920048	19q13.2	A	C	Pathogenic	NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/204380	204380	000209796	200771	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs773048903	41920054	41920054	19q13.2	G	A	Pathogenic	NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/204378	204378	000209016	200772	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2039285328	41920062	41920062	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.484G>A (p.Gly162Ser)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/940379	940379	001209953	938699	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41920063	41920063	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.484+1G>A	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1341557	1341557	001837053	1332806	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41925030	41925211	19q13.2	NA	NA	Likely pathogenic	NC_000019.9:g.(?_41925030)_(41925211_?)del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1068006	1068006	001379423	1054658	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41925030	41930736	19q13.2	NA	NA	Pathogenic	NC_000019.9:g.(?_41925030)_(41930736_?)del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459942	1459942	001963198	1481299	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs762084007	41925062	41925062	19q13.2	AC	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.511del (p.Leu171fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/517592	517592	000601066	497317	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41925062	41925062	19q13.2	C	G	Pathogenic	NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1973712	1973712	002736209	2026411	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1568506608	41925108	41925108	19q13.2	CT	C	Pathogenic	NM_000709.4(BCKDHA):c.554del (p.Leu185fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/623332	623332	000761473	612331	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41925121	41925121	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.566G>A (p.Arg189His)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1921803	1921803	002621450	1979418	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41925123	41925123	19q13.2	C	T	Pathogenic	NM_000709.4(BCKDHA):c.568C>T (p.Gln190Ter)	BCKDHA	Inborn genetic diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2230997	2230997	002703105	2216557	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs575806482	41925140	41925140	19q13.2	C	A	Likely pathogenic	NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/983562	983562	001263561	972337	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123503	41925187	41925187	19q13.2	C	T	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	BCKDHA	Maple syrup urine disease|not provided	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93365	93365	000178794|000790699	99272	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs753216964	41928068	41928068	19q13.2	G	C	Pathogenic	NM_000709.4(BCKDHA):c.647-1G>C	BCKDHA	not provided|Maple syrup urine disease	NA|248600	NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/431985	431985	000498679|000670031	426316	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928069	41928069	19q13.2	C	T	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323975	1323975	001780680	1314255	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928073	41928073	19q13.2	TG	T	Likely pathogenic	NM_000709.4(BCKDHA):c.655del (p.Ala219fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1724025	1724025	002306580	1781552	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2039372961	41928075	41928075	19q13.2	G	C	Pathogenic	NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/834598	834598	001035319	847726	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs375785084	41928081	41928081	19q13.2	C	T	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	BCKDHA	Maple syrup urine disease|not provided|Maple syrup urine disease type 1A	248600|NA|NA	511|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93367	93367	000179335|000790736|001831820	99274	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928081	41928081	19q13.2	GC	G	Pathogenic	NM_000709.4(BCKDHA):c.659del (p.Ala220fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2098463	2098463	003019195	2157659	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs796051938	41928081	41928084	19q13.2	GCGTA	G	Pathogenic	NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)	BCKDHA	not provided|Maple syrup urine disease	NA|248600	NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/203638	203638	000185796|000408793	200344	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928085	41928085	19q13.2	AC	A	Pathogenic	NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1423652	1423652	001954865	1418711	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928117	41928118	19q13.2	GTC	G	Likely pathogenic	NM_000709.4(BCKDHA):c.695_696del (p.Val232fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1726529	1726529	002310213	1784056	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928120	41928121	19q13.2	ATC	A	Pathogenic	NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2020233	2020233	002852413	2083273	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928122	41928123	19q13.2	CTG	C	Pathogenic	NM_000709.4(BCKDHA):c.701_702del (p.Cys234fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1075126	1075126	001388645	1064720	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1303770209	41928134	41928134	19q13.2	G	T	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/983563	983563	001263562	972338	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1555766993	41928136	41928136	19q13.2	AG	A	Pathogenic	NM_000709.4(BCKDHA):c.718del (p.Ala240fs)	BCKDHA	Maple syrup urine disease|Maple syrup urine disease type 1A	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/558389	558389	000674650|001830465	548820	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1468416468	41928162	41928162	19q13.2	A	G	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/982806	982806	001262490	971135	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs398123504	41928162	41928163	19q13.2	A	AT	Pathogenic	NM_000709.4(BCKDHA):c.741dup (p.Ala248fs)	BCKDHA	not provided|Maple syrup urine disease	NA|248600	NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/93370	93370	000179336|002514395	99277	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs137852874	41928167	41928167	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	BCKDHA	Maple syrup urine disease type 1A|Maple syrup urine disease|not provided	NA|248600|NA	NA|511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2380	2380	000002479|001064270|001818118	17419	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928167	41928167	19q13.2	G	T	Likely pathogenic	NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1511580	1511580	002043368	1459061	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928177	41928178	19q13.2	T	TA	Likely pathogenic	NM_000709.4(BCKDHA):c.755_756insA (p.Phe252fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1724918	1724918	002307977	1782445	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs199599175	41928179	41928179	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	BCKDHA	Maple syrup urine disease|Maple syrup urine disease type 1A	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/558191	558191	000674422|001835912	548799	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928180	41928180	19q13.2	C	G	Likely pathogenic	NM_000709.4(BCKDHA):c.758C>G (p.Ala253Gly)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1520107	1520107	002043878	1516103	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928195	41928196	19q13.2	GC	AA	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)	BCKDHA	Maple syrup urine disease|not provided	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1325805	1325805	001785342|003222346	1316066	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs2039375435	41928196	41928196	19q13.2	C	A	Pathogenic	NM_000709.4(BCKDHA):c.774C>A (p.Cys258Ter)	BCKDHA	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/871298	871298	001091179	860576	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928198	41928198	19q13.2	C	T	Pathogenic	NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1519764	1519764	002024792	1517053	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928216	41928216	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)	BCKDHA	Maple syrup urine disease|not provided	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1065902	1065902	001376744|002265026	1056581	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928230	41928230	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1499283	1499283	002040176	1388986	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928257	41928257	19q13.2	GT	G	Pathogenic	NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2157299	2157299	003078024	1893487	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs869312124	41928266	41928266	19q13.2	G	C	Pathogenic	NM_000709.4(BCKDHA):c.844G>C (p.Asp282His)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/204377	204377	000209700	200773	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123508	41928275	41928275	19q13.2	G	C	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	BCKDHA	not provided|Maple syrup urine disease|Maple syrup urine disease type 1A	NA|248600|NA	NA|511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93375	93375	000079257|000179337|001275916	99282	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1555767028	41928276	41928276	19q13.2	G	T	Likely pathogenic	NM_000709.4(BCKDHA):c.853+1G>T	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/553830	553830	000669354	549167	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928277	41928277	19q13.2	T	C	Likely pathogenic	NM_000709.4(BCKDHA):c.853+2T>C	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2175355	2175355	002579160	1897732	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs760494152	41928532	41928532	19q13.2	A	G	Pathogenic	NM_000709.4(BCKDHA):c.854-2A>G	BCKDHA	not provided|Maple syrup urine disease|Maple syrup urine disease type 1A	NA|248600|NA	NA|511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/500713	500713	000592741|001379040|001829666	492137	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs764247545	41928539	41928539	19q13.2	C	T	Pathogenic	NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)	BCKDHA	Maple syrup urine disease|Maple syrup urine disease type 1A	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/553989	553989	000669536|001829858	548802	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs794727847	41928539	41928546	19q13.2	ACGAGGCCC	A	Pathogenic	NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)	BCKDHA	Maple syrup urine disease type 1A|Maple syrup urine disease|not provided	NA|248600|NA	NA|511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/198433	198433	000002474|000179782|000724580	195594	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928540	41928540	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.860G>A (p.Arg287Gln)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1513404	1513404	002018388	1472459	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs137852871	41928548	41928548	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	BCKDHA	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA|Maple syrup urine disease|not provided|Maple syrup urine disease type 1A	NA|248600|NA|NA	NA|511|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2377	2377	000002475|000179775|000790729|001175041	17416	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928564	41928564	19q13.2	C	A	Pathogenic	NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1073900	1073900	001387039	1064721	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123509	41928585	41928585	19q13.2	A	C	Pathogenic	NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)	BCKDHA	not provided|Maple syrup urine disease	NA|248600	NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/93377	93377	000179780|001283857	99284	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928585	41928585	19q13.2	A	G	Likely pathogenic	NM_000709.4(BCKDHA):c.905A>G (p.Asp302Gly)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2044440	2044440	002903690	2095865	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123510	41928586	41928587	19q13.2	ATG	A	Pathogenic	NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs)	BCKDHA	not provided|Maple syrup urine disease	NA|248600	NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/93378	93378	000179781|002514396	99285	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs398123512	41928597	41928597	19q13.2	GT	G	Pathogenic	NM_000709.4(BCKDHA):c.917del (p.Val306fs)	BCKDHA	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93380	93380	000179778	99287	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs137852875	41928609	41928609	19q13.2	C	G	Pathogenic	NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)	BCKDHA	Maple syrup urine disease type 1A|not provided|Maple syrup urine disease	NA|NA|248600	NA|NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2381	2381	000002480|000179776|002222336	17420	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs2039381583	41928611	41928611	19q13.2	A	T	Likely pathogenic	NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/983564	983564	001263563	972339	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs753698250	41928620	41928620	19q13.2	C	T	Pathogenic	NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)	BCKDHA	Maple syrup urine disease|Maple syrup urine disease type 1A	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/224072	224072	000209887|001194035	225801	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928634	41928634	19q13.2	TG	T	Likely pathogenic	NM_000709.4(BCKDHA):c.955del (p.Ala319fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1726245	1726245	002307216	1783772	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123513	41928644	41928644	19q13.2	C	T	Pathogenic	NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter)	BCKDHA	not provided|Maple syrup urine disease	NA|248600	NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/93381	93381	000179777|001854399	99288	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928661	41928661	19q13.2	G	C	Likely pathogenic	NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1511845	1511845	002020620	1455480	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555767090	41928671	41928672	19q13.2	T	TA	Likely pathogenic	NM_000709.4(BCKDHA):c.992dup (p.Tyr331Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/556053	556053	000671995	548839	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2039383036	41928676	41928676	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.995+1G>A	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1929553	1929553	002642394	1021897	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41928901	41928901	19q13.2	A	G	Likely pathogenic	NM_000709.4(BCKDHA):c.996-2A>G	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1493182	1493182	001984178	1516018	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1330793674	41928909	41928916	19q13.2	GGCACCACA	G	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	BCKDHA	Maple syrup urine disease|not provided	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/557703	557703	000673876|002469253	549173	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41928935	41928935	19q13.2	C	G	Pathogenic	NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1395580	1395580	001919750	1424979	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123486	41928944	41928944	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	BCKDHA	Maple syrup urine disease|not provided	248600|NA	511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93336	93336	000180182|000790816	99243	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1214763792	41928968	41928968	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/936117	936117	001204854	938701	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs762199542	41928976	41928976	19q13.2	C	T	Pathogenic	NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/634552	634552	000785061	622463	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1599962569	41929016	41929025	19q13.2	AGCCAAGGCTG	A	Likely pathogenic	NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/639492	639492	000792298	648140	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41929021	41929021	19q13.2	AG	A	Likely pathogenic	NM_000709.4(BCKDHA):c.1115del (p.Gly372fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1210365	1210365	001580640	1200365	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs765543886	41929026	41929026	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/557583	557583	000673741	548842	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1555767169	41929074	41929074	19q13.2	AG	A	Likely pathogenic	NM_000709.4(BCKDHA):c.1167+1del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/556511	556511	000672530	549175	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2039389302	41929075	41929075	19q13.2	G	C	Likely pathogenic	NM_000709.4(BCKDHA):c.1167+1G>C	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/969269	969269	001244572	960919	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41930333	41930736	19q13.2	NA	NA	Pathogenic	NC_000019.10:g.(?_41424428)_(41424831_?)del	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/830688	830688	001031304	821258	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555767285	41930341	41930341	19q13.2	A	G	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.1168-2A>G	BCKDHA	not provided|Maple syrup urine disease type 1A|Maple syrup urine disease	NA|NA|248600	NA|NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/431986	431986	000497494|000587694|000668125	426317	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs2039405116	41930342	41930342	19q13.2	G	A	Likely pathogenic	NM_000709.4(BCKDHA):c.1168-1G>A	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/931233	931233	001197612	920408	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs201168715	41930367	41930367	19q13.2	G	T	Likely pathogenic	NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/553717	553717	000669226	549177	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs863225262	41930373	41930373	19q13.2	A	T	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/204379	204379	000202366	200774	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs137852872	41930401	41930401	19q13.2	T	G	Likely pathogenic	NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)	BCKDHA	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA|Maple syrup urine disease type 1A|Maple syrup urine disease	NA|NA|248600	NA|NA|511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2378	2378	000002476|000002477|001378888	17417	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41930402	41930402	19q13.2	C	G	Likely pathogenic	NM_000709.4(BCKDHA):c.1227C>G (p.Phe409Leu)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1066997	1066997	001378139	1056582	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123490	41930409	41930409	19q13.2	G	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	BCKDHA	Maple syrup urine disease|not provided|Maple syrup urine disease type 1A|Inborn genetic diseases	248600|NA|NA|NA	511|NA|NA|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93344	93344	000180522|000790815|000853374|002514392	99251	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41930424	41930424	19q13.2	GC	G	Likely pathogenic	NM_000709.4(BCKDHA):c.1251del (p.Ala418fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/2627668	2627668	003388964	2795180	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41930430	41930430	19q13.2	C	T	Likely pathogenic	NM_000709.4(BCKDHA):c.1255C>T (p.Gln419Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1723318	1723318	002308594	1780809	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123491	41930477	41930477	19q13.2	C	A	Pathogenic	NM_000709.4(BCKDHA):c.1302C>A (p.Tyr434Ter)	BCKDHA	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93346	93346	000180524	99253	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	41930481	41930481	19q13.2	G	T	Pathogenic	NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1072888	1072888	001385732	1064722	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123492	41930484	41930485	19q13.2	GCA	G	Pathogenic	NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)	BCKDHA	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93347	93347	000180523	99254	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2039407382	41930484	41930490	19q13.2	GCACTACC	G	Likely pathogenic	NM_000709.4(BCKDHA):c.1313_1319del (p.Tyr438fs)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/945811	945811	001216538	928979	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs137852870	41930487	41930487	19q13.2	T	A	Pathogenic/Likely pathogenic	NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	BCKDHA	Maple syrup urine disease type 1A|not provided|Maple syrup urine disease|Inborn genetic diseases	NA|NA|248600|NA	NA|NA|511|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/100009	100009	000002473|000079229|000055825|002514533	17414	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	41930487	41930487	19q13.2	T	C	Likely pathogenic	NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)	BCKDHA	Maple syrup urine disease	248600	511	http://www.ncbi.nlm.nih.gov/clinvar/variation/1344509	1344509	001848605	1336212	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs398123493	41930489	41930489	19q13.2	C	A	Pathogenic	NM_000709.4(BCKDHA):c.1314C>A (p.Tyr438Ter)	BCKDHA	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/93348	93348	000180521	99255	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42363988	42364925	19q13.2	NA	NA	Pathogenic	NC_000019.9:g.(?_42363988)_(42364925_?)del	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/2423481	2423481	003122309	1945702	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42363988	42375445	19q13.2	NA	NA	Pathogenic	NC_000019.9:g.(?_42363988)_(42375445_?)del	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1459369	1459369	001975211	1406496	criteria provided, single submitter
rs4674	chr19	41430396	42430396	nsv1197578	42364612	42369681	19q13.2	NA	NA	Pathogenic	NM_001022.3(RPS19):c.1-231_173-3418del	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/88978	88978	000074476	94534	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs138938035	42364847	42364847	19q13.2	G	A	Pathogenic	NM_001022.4(RPS19):c.3G>A (p.Met1Ile)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/860401	860401	001066690	847728	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	42364847	42364847	19q13.2	G	C	Pathogenic	NM_001022.4(RPS19):c.3G>C (p.Met1Ile)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1736908	1736908	002375652	1793950	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs138938035	42364847	42364847	19q13.2	G	T	Pathogenic	NM_001022.4(RPS19):c.3G>T (p.Met1Ile)	RPS19	not provided|Congenital hypoplastic anemia|Diamond-Blackfan anemia 1	NA|NA|105650	NA|124|124	http://www.ncbi.nlm.nih.gov/clinvar/variation/372494	372494	000413436|002374616|003168598	360563	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs149420497	42364856	42364857	19q13.2	T	TA	Pathogenic	NM_001022.4(RPS19):c.13dup (p.Thr5fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/858368	858368	001064225	847729	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs2074020491	42364860	42364860	19q13.2	TG	T	Pathogenic	NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/940580	940580	001210193	938702	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42364862	42364862	19q13.2	TA	T	Pathogenic	NM_001022.4(RPS19):c.21del (p.Asp8fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1787597	1787597	002425702	1850577	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42364878	42364878	19q13.2	C	T	Pathogenic	NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1732047	1732047	002459131	1789079	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs104894717	42364887	42364887	19q13.2	G	T	Pathogenic	NM_001022.4(RPS19):c.43G>T (p.Val15Phe)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/242804	242804	000482973	21358	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs782329429	42364893	42364893	19q13.2	G	C	Likely pathogenic	NM_001022.4(RPS19):c.49G>C (p.Ala17Pro)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/427171	427171	000489970	415658	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2074021310	42364897	42364897	19q13.2	T	C	Pathogenic	NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1006194	1006194	001303198	998621	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42364901	42364902	19q13.2	A	AGCCT	Pathogenic	NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1072173	1072173	001384824	1064723	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42364911	42364911	19q13.2	CA	C	Likely pathogenic	NM_001022.4(RPS19):c.71del (p.Lys24fs)	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/2444176	2444176	003152974	2417909	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42364916	42364916	19q13.2	G	C	Likely pathogenic	NM_001022.4(RPS19):c.71+1G>C	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1523971	1523971	002031373	1382534	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs146366047	42365180	42365180	19q13.2	G	A	Likely pathogenic	NM_001022.4(RPS19):c.72-1G>A	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/647481	647481	000801996	653053	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365180	42365180	19q13.2	G	C	Likely pathogenic	NM_001022.4(RPS19):c.72-1G>C	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1176075	1176075	001531462	1166316	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365188	42365188	19q13.2	A	T	Pathogenic	NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1761564	1761564	002419137	1813871	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365203	42365203	19q13.2	G	T	Pathogenic	NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)	RPS19	Congenital hypoplastic anemia|not provided	NA|NA	124|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2138299	2138299	003064586|003126268	1868451	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs104894716	42365207	42365207	19q13.2	G	A	Pathogenic	NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)	RPS19	Diamond-Blackfan anemia 1|Congenital hypoplastic anemia	105650|NA	124|124	http://www.ncbi.nlm.nih.gov/clinvar/variation/6315	6315	000033184|001237459	21354	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs2074026880	42365208	42365208	19q13.2	G	A	Pathogenic	NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/940523	940523	001210127	938703	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365210	42365210	19q13.2	GT	G	Pathogenic	NM_001022.4(RPS19):c.101del (p.Val34fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/2129014	2129014	003040329	2175263	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555839154	42365213	42365214	19q13.2	A	AT	Pathogenic	NM_001022.4(RPS19):c.105dup (p.Thr36fs)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/418695	418695	000480243	410620	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555839161	42365236	42365237	19q13.2	CAA	C	Pathogenic	NM_001022.4(RPS19):c.128_129del (p.Lys43fs)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/504400	504400	000599611	495866	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2074027448	42365238	42365239	19q13.2	AAG	A	Pathogenic	NM_001022.4(RPS19):c.131_132del (p.Glu44fs)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/871299	871299	001091180	860577	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365249	42365249	19q13.2	C	T	Likely pathogenic	NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1771987	1771987	002389464	1829799	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365271	42365271	19q13.2	C	G	Pathogenic	NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1776783	1776783	002401241	1834057	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365275	42365275	19q13.2	C	G	Likely pathogenic	NM_001022.4(RPS19):c.166C>G (p.Arg56Gly)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1705969	1705969	002284343	1704289	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365275	42365275	19q13.2	C	T	Pathogenic	NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/2138300	2138300	003064587	1868452	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365276	42365276	19q13.2	G	A	Likely pathogenic	NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1777874	1777874	002406005	1837808	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42365276	42365276	19q13.2	G	T	Likely pathogenic	NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1777881	1777881	002406012	1837815	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373091	42375455	19q13.2	NA	NA	Pathogenic	NC_000019.9:g.(?_42373091)_(42375455_?)del	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/650720	650720	000805921	653530	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs111833764	42373099	42373099	19q13.2	A	G	Pathogenic	NM_001022.4(RPS19):c.173-2A>G	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/644396	644396	000798302	653617	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373100	42373100	19q13.2	G	T	Pathogenic	NM_001022.4(RPS19):c.173-1G>T	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1369946	1369946	001876903	1437652	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373104	42373104	19q13.2	C	T	Likely pathogenic	NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1779761	1779761	002407657	1838413	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs782637049	42373106	42373106	19q13.2	A	C	Likely pathogenic	NM_001022.4(RPS19):c.178A>C (p.Thr60Pro)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/429664	429664	000494443	422281	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs104894711	42373112	42373112	19q13.2	C	T	Pathogenic	NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)	RPS19	Diamond-Blackfan anemia 1|not provided|Congenital hypoplastic anemia|RPS19-related condition	105650|NA|NA|NA	124|NA|124|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/6314	6314	000033183|000497714|001065746|003415668	21353	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	rs1555841301	42373113	42373113	19q13.2	G	A	Pathogenic	NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)	RPS19	Congenital hypoplastic anemia|not provided	NA|NA	124|NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/463372	463372	000538681|001702674	468836	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	42373113	42373113	19q13.2	G	C	Pathogenic	NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1071332	1071332	001383782	1064724	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373119	42373119	19q13.2	T	C	Pathogenic	NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1782649	1782649	002410682	1846014	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs121908649	42373178	42373178	19q13.2	A	T	Pathogenic	NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/6316	6316	000033185	21355	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs2074118749	42373183	42373184	19q13.2	C	CG	Pathogenic	NM_001022.4(RPS19):c.257dup (p.Val87fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/950789	950789	001222578	928980	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs61762293	42373208	42373208	19q13.2	C	T	Pathogenic	NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)	RPS19	Diamond-Blackfan anemia 1|not provided|Congenital hypoplastic anemia	105650|NA|NA	124|NA|124	http://www.ncbi.nlm.nih.gov/clinvar/variation/6313	6313	000033182|000272977|002433445	21352	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	42373214	42373215	19q13.2	T	TC	Pathogenic	NM_001022.4(RPS19):c.288dup (p.Lys97fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1797274	1797274	002437899	1855848	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555841356	42373220	42373221	19q13.2	A	AGT	Pathogenic	NM_001022.4(RPS19):c.296_297dup (p.Ala100fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/463373	463373	000553313	468838	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373221	42373222	19q13.2	AGT	A	Pathogenic	NM_001022.4(RPS19):c.296_297del (p.Val99fs)	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1687347	1687347	002251029	1679640	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs2074119405	42373223	42373224	19q13.2	GT	CAGCCGA	Pathogenic	NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs)	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/977494	977494	001255169	965627	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373229	42373229	19q13.2	C	T	Likely pathogenic	NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1798891	1798891	002435862	1856160	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373230	42373230	19q13.2	G	A	Likely pathogenic	NM_001022.4(RPS19):c.302G>A (p.Arg101His)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1338641	1338641	001818012	1329648	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373230	42373230	19q13.2	G	C	Likely pathogenic	NM_001022.4(RPS19):c.302G>C (p.Arg101Pro)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1338436	1338436	001817807	1329444	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs786200935	42373233	42373233	19q13.2	CG	C	Pathogenic	NM_001022.4(RPS19):c.307del (p.Val103fs)	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/6317	6317	000033186	21356	no assertion criteria provided
rs4674	chr19	41430396	42430396	NA	42373244	42373244	19q13.2	AG	A	Pathogenic	NM_001022.4(RPS19):c.316del (p.Ala106fs)	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/2412767	2412767	002790030	2401496	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1064794604	42373263	42373265	19q13.2	ATGG	A	Likely pathogenic	NM_001022.4(RPS19):c.335TGG[1] (p.Val113del)	RPS19	not provided|Congenital hypoplastic anemia	NA|NA	NA|124	http://www.ncbi.nlm.nih.gov/clinvar/variation/420637	420637	000478263|002455923	410622	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	42373275	42373275	19q13.2	GA	G	Pathogenic	NM_001022.4(RPS19):c.347del (p.Asp116fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/2007213	2007213	002842155	2062573	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373285	42373285	19q13.2	G	A	Likely pathogenic	NM_001022.4(RPS19):c.356+1G>A	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1499101	1499101	002010419	1488846	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555841379	42373287	42373287	19q13.2	A	C	Likely pathogenic	NM_001022.4(RPS19):c.356+3A>C	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/436553	436553	000503534	430220	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs1568796003	42373778	42373779	19q13.2	A	ACT	Pathogenic	NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer)	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/587695	587695	000714976	578653	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs2074126900	42373783	42373784	19q13.2	C	CA	Pathogenic	NM_001022.4(RPS19):c.372dup (p.Pro125fs)	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1013167	1013167	001311533	1001122	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs786200936	42373792	42373792	19q13.2	G	A	Likely pathogenic	NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)	RPS19	Diamond-Blackfan anemia 1|Congenital hypoplastic anemia	105650|NA	124|124	http://www.ncbi.nlm.nih.gov/clinvar/variation/6320	6320	000033189|002512845	21359	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1060503688	42373794	42373794	19q13.2	C	T	Likely pathogenic	NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/412282	412282	000462953	403743	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373794	42373795	19q13.2	C	CA	Pathogenic	NM_001022.4(RPS19):c.385dup (p.Arg129fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1735592	1735592	002355538	1790086	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs869066130	42373795	42373796	19q13.2	CAA	C	Pathogenic	NM_001022.4(RPS19):c.384_385del (p.Asp130fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/580015	580015	000703435	573141	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42373814	42373815	19q13.2	TCG	T	Pathogenic	NM_001022.4(RPS19):c.403_404del (p.Ala135fs)	RPS19	Diamond-Blackfan anemia 1	105650	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1323536	1323536	001784919	1313819	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs144337183	42373818	42373818	19q13.2	G	T	Pathogenic	NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)	RPS19	not provided|Congenital hypoplastic anemia	NA|NA	NA|124	http://www.ncbi.nlm.nih.gov/clinvar/variation/372495	372495	000414046|002323577	360439	criteria provided, multiple submitters, no conflicts
rs4674	chr19	41430396	42430396	NA	42373822	42373826	19q13.2	CAGGTA	C	Likely pathogenic	NM_001022.4(RPS19):c.411+2_411+6del	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1737919	1737919	002323409	1797156	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555841598	42373825	42373825	19q13.2	T	C	Pathogenic	NM_001022.4(RPS19):c.411+2T>C	RPS19	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/489187	489187	000579035	482193	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42375423	42375430	19q13.2	CAGCTGCC	GAAGCATTAG	Pathogenic	NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG (p.Ala139fs)	RPS19	Congenital hypoplastic anemia	NA	124	http://www.ncbi.nlm.nih.gov/clinvar/variation/1738340	1738340	002333319	1790673	criteria provided, single submitter
rs4674	chr19	41430396	42430396	NA	42383057	42383070	19q13.2	ACAGGCCCTGGGTGC	A	Pathogenic	NC_000019.10:g.41878996_41879009del	CD79A	Agammaglobulinemia 3, autosomal recessive	613501	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2128215	2128215	003055884	2182218	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1568801716	42383178	42383178	19q13.2	G	A	Pathogenic	NM_001783.4(CD79A):c.198G>A (p.Trp66Ter)	CD79A	Agammaglobulinemia 3, autosomal recessive	613501	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/570771	570771	000691714	573150	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1600631294	42383303	42383303	19q13.2	T	G	Pathogenic	NM_001783.4(CD79A):c.323T>G (p.Val108Gly)	CD79A	Inherited Immunodeficiency Diseases	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/827697	827697	001027560	815938	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1555843601	42383360	42383360	19q13.2	G	A	Likely pathogenic	NM_001783.4(CD79A):c.379+1G>A	CD79A	Agammaglobulinemia 3, autosomal recessive	613501	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/17707	17707	000019281	32746	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1600631593	42383603	42383603	19q13.2	A	G	Pathogenic	NM_001783.4(CD79A):c.380-2A>G	CD79A	Agammaglobulinemia 3, autosomal recessive	613501	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/17706	17706	000019280	32745	no assertion criteria provided
rs4674	chr19	41430396	42430396	NA	42384736	42384736	19q13.2	G	A	Likely pathogenic	NM_001783.4(CD79A):c.499-1G>A	CD79A	Agammaglobulinemia 3, autosomal recessive	613501	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2105348	2105348	003023406	2169700	criteria provided, single submitter
rs4674	chr19	41430396	42430396	rs1568815169	42398710	42398710	19q13.2	C	T	Pathogenic	NM_004706.4(ARHGEF1):c.853C>T (p.Arg285Ter)	ARHGEF1	Immunodeficiency 62	618459	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/633649	633649	000782183	622081	no assertion criteria provided
rs4674	chr19	41430396	42430396	rs1568822574	42406933	42406933	19q13.2	G	T	Pathogenic	NM_004706.4(ARHGEF1):c.1624-1G>T	ARHGEF1	Immunodeficiency 62	618459	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/633650	633650	000782184	622082	no assertion criteria provided
rs2618599	chr20	17239173	18239173	NA	17475593	17475593	20p12.1	CT	C	Likely pathogenic	NM_001195.5(BFSP1):c.1124del (p.Glu375fs)	BFSP1	Developmental cataract	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1065587	1065587	001775013	1053906	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs1085307127	17477580	17477580	20p12.1	T	C	Pathogenic	NM_001195.5(BFSP1):c.1042+3A>G	BFSP1	Cataract 33	611391	91492	http://www.ncbi.nlm.nih.gov/clinvar/variation/425559	425559	000488441	413914	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs1085307126	17477583	17477583	20p12.1	C	T	Pathogenic	NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)	BFSP1	Cataract 33	611391	91492	http://www.ncbi.nlm.nih.gov/clinvar/variation/425558	425558	000488438	413913	no assertion criteria provided
rs2618599	chr20	17239173	18239173	NA	17477734	17481069	20p12.1	TGTTGAGCAAAAATGAAAAAAAAGCTTTCTCTAGACCAAATTGCTCACGAATTAGATATCATTTTAAACAGACAGCCATACACACATTTACATACTGGATGAGGACATAAAGGAAGTGATCATTTCTTTGAGCTCAAGAGTCATAAACTGTGAAACATACCTATAAAAAATTGTAAAGTGGGGATTGCTTATAACCTAAAAATGCCACTTCTCCATGAGACAGTGCCTTTTTTATTTTTTTGCCTTTTGTTTTTTTGCCTTTTTGATTTTTTTAGTTAGAGTAGTCAACCCAGGCTGAAGTATTTAGGGCAAACAGAGTATGATATCTCCAACTTAAGATATATGTATATATACGTGTATGTATATATATATACACACACACACGTATATATACGTGTGTATATATATATACACGTATATATACGTATATATATACACACACGTATGTATATATGTGTGTATATATGTATATGTGTGTGTATATGTATATATACGTATATATATACGTGTATATATATACGTATATATACATATACACACACATATATACATATATACATATATCTACTCATATATACGTATATACATATATACATATACATGTACACACACACATCATATATAAATAGAGAAAAAATGATAAAGCAATTGAGATAAAATATAAACAACTGGTGAATCTGGAGTATTCAGGAGTTCCTTGTTCTATTCTTGCAACATTTCTATCAATTTAAAATTAGACCAAAATCAGAACTTATAGATAAATAAAAGAGGTATCCAGTCACCTTTCTGTGAAGCCCTGTCCCAAAACAAAAATGTTTACAAAGTCACCGAAATGCCAGCTCCAGACTTATTCTTGCAGATGTGTGCATAGTGTTCACTGTGACATAAATATAATGTGGAATCATGCCAGATACACCGACCAGCACTGGAGAAAGAAAAATAAAATCCTGCTTCTCCTGCCAAGCATTCGAGTGCTCACAGCCAAGAGAGAGCACCCAGCGCGAAGGGAAGAGCTGCTCCTGGTGGGGACCTCAGTTGTGGGGGGCTTCTCTTTTCATTCAGTCGAAACCCAGGAATTTAGCAAGACTGAAGTGAAGAATCACAAATTAATTCCCAACCCGTTCTCTGGAAATCACCGTAGCTATGAATACCAGCATAGCTGGAGAGAAAGAGAGAATTTCCCAGCTTTCTTAAAGTGAGTAGGGATCGACTCACAGCTCCATTATGGAGAAGACCAGACAGCCACATAGTCACAGCCACAGACTGACTCAGCAAGGTGCTAAGAATTGTGAGGATGGCAGCAGGAGCATCACCAACACCTCTGAGTGCCCTCAAGTGCCAGGCTCCGTGCCACGTAGCTCACCTGCAGCACCTCATTAAATACTCCTGGGCATCCCACCTGCTGGGACACTTATGTCCCCAGAGGCCTATGAGCAAAACACAGGCTTCTCAGTGAGGCCTTTTCTGACCACCCTACTTAAAACTGCAAGCATTCCCCCATCACCCCTATTGCCACCACCCTCCTCCCTGCGGGAACTTCCTCCTCAGCACTGGTCGTACCTTCATCCTCTGTCTCCCCTACTAGTTATCCAACACCCATGGGGTCAGGAATTGTTCTGTTTCCTTCCCTGACACATGCCCACTGCCTATAACTGTGCCTGGCACACAATAGGCACTCAATAAAGAGTTGTGGAAGGAATAAGTGGCCTGGATGGGGAGGGCACACGCTCACCTGTTGCCTTCAATCTCGATGATACGATGATACCGGTCCAGCTCATTCTTCAGGGTTTGCTGGGCGACCGCCAGCTGCCGGCAGTCGTAAGAAGACTTCTCCAGGACCCGCTCTGTCTCCTCAATCTCCTTGCGCAGTGTCTCAATCTGCTCGTTATAAAGCTGAATCTCATCGTCATAACACTCATGGGCACTTTTAATAGCTTGTTCCAGAGTTGTTGTCTGTGGGCAAGGACACGCTGTAAGAAAATCCATCCCCCTTCTTCTCTAAGAGACAGACCTCACCAGGAAAAGGAACCTGGACTCGGTGAATGTTTTATGTTGTTTGTGTGTTTCTCTGTCCATTCGAGATTAGCAATGAATCACTTTGGAATCCTTAAGCTAAAAAGCAATGTGAAAACTGAGCTCCTGTGTCCTTACACAATTTTTTTTTTTTTTTTTTTTGATAGAGGATCTCACTTTGTCACCAGGCTGGAATGCAGGAGTGCAATCTCGGCTCACTGCATCCTCGACCTCCCAGGCTAAAGGCTTCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCAAGCACCAACATGCTGGGCTTTTTTTTTTTTTTTTTTTTTTTGGTAGTGATAGGGTCCCACTTCGTTGCCCAGGCTGGTTTCAAACTCCTGGCTTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGCGAGTCACCGCACCCAGCCCTTCTTGCACTAATATCAGCACCCTCTGCAATTAGTCCATAAGGAGGCCCACCCCAAAGGCAGTCTGAAGACAAACCTAGAAAATAAAACGAAACCTAGGCCAGGTGGCTCACACTTGTAATCCCAGAACTTTGGGAGGCCGAGGCTAGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACACGCCATAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGACCACACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTAAAAGAAAAAGAAAAAAAACTTGCTATCGGTGGAATAATATGTATAATTCAAATAAAGTACATTCTTCAGACTTTAATGAACAAGCATAAATCTGATAGCAAAAAAATAAGTAAAAAGAAGCACATACTAAATAGATAAGATGCTACCTTTATTGAAATACTGAGTGGGAGAAAAGTTTCCTTGTTCTCATTCAGCTTTGATTTTCTCCCGAGTTTGGATCGGCAGAGTTACATTTATGTTTTGGTAGCTAAGGTGTATGTGTGTGCCCTTGTGTACACATAAAATAATGTCAGAGAAATACAGTACATTAATCAGAGCAAGTAAAAATTAAGGGAGGAAAACAGAAAGAGATAGTTTTATATTCAGTGTAAGAGGTTGTGATGATACACAAAGACCCACAAATGCTCAGTCATGGGCCACATAACAGTACTGCAGTCAACAATGGACTGCATATAGGATGGTGGTCCCATAAGAGTACAATGGAGCTGGACAATTCCTGTCGCC	T	Pathogenic	NM_001195.5(BFSP1):c.736-1384_957-66del	BFSP1	Cataract 33	611391	91492	http://www.ncbi.nlm.nih.gov/clinvar/variation/6497	6497	000006870	21536	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs1246080692	17479523	17479523	20p12.1	G	A	Pathogenic	NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)	BFSP1	Cataract 33	611391	91492	http://www.ncbi.nlm.nih.gov/clinvar/variation/838855	838855	001040490	848232	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	NA	17479644	17479645	20p12.1	AAC	A	Pathogenic	NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)	BFSP1	Cataract 33	611391	91492	http://www.ncbi.nlm.nih.gov/clinvar/variation/2111421	2111421	003045980	2163996	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	NA	17511760	17511760	20p12.1	A	G	Likely pathogenic	NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro)	BFSP1	Cataract 33	611391	91492	http://www.ncbi.nlm.nih.gov/clinvar/variation/1066273	1066273	001377232	1056599	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	NA	17587682	18168103	20p12.1-11.23	NA	NA	Pathogenic	NC_000020.10:g.(?_17587682)_(18168103_?)del	MGME1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2427149	2427149	003122983	1949923	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	NA	17950537	17950537	20p11.23	CA	C	Pathogenic	NM_052865.4(MGME1):c.35del (p.Gln12fs)	MGME1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2041766	2041766	002903227	2102238	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	NA	17950567	17950567	20p11.23	C	A	Pathogenic	NM_052865.4(MGME1):c.65C>A (p.Ser22Ter)	MGME1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2165318	2165318	003089915	1905736	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	NA	17950661	17950665	20p11.23	CTAATT	C	Pathogenic	NM_052865.4(MGME1):c.161_165del (p.Asn54fs)	MGME1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1902149	1902149	002580067	1954189	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	rs1555789140	17950860	17950860	20p11.23	TC	T	Pathogenic	NM_052865.4(MGME1):c.359del (p.Pro120fs)	MGME1	Mitochondrial DNA depletion syndrome 11	615084	352447	http://www.ncbi.nlm.nih.gov/clinvar/variation/428588	428588	000578900	420146	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs587776943	17950958	17950958	20p11.23	G	A	Likely pathogenic	NM_052865.4(MGME1):c.456G>A (p.Trp152Ter)	MGME1	Mitochondrial DNA depletion syndrome 11	615084	352447	http://www.ncbi.nlm.nih.gov/clinvar/variation/40051	40051	000033150	48565	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	NA	17956378	17956378	20p11.23	C	G	Pathogenic	NM_052865.4(MGME1):c.563C>G (p.Ser188Ter)	MGME1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2056466	2056466	002914610	2109169	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	NA	17956473	17956473	20p11.23	C	T	Pathogenic	NM_052865.4(MGME1):c.658C>T (p.Arg220Ter)	MGME1	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1940364	1940364	002639307	1994502	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	rs587776944	17956513	17956513	20p11.23	A	G	Pathogenic	NM_052865.4(MGME1):c.698A>G (p.Tyr233Cys)	MGME1	Mitochondrial DNA depletion syndrome 11	615084	352447	http://www.ncbi.nlm.nih.gov/clinvar/variation/40052	40052	000033151	48566	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs869320630	18038552	18038552	20p11.23	A	C	Pathogenic	NM_021220.4(OVOL2):c.-274T>G	OVOL2	Posterior polymorphous corneal dystrophy 1	122000	98973	http://www.ncbi.nlm.nih.gov/clinvar/variation/224840	224840	000210412	226680	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs869320629	18038585	18038585	20p11.23	A	G	Pathogenic	NM_001303461.1(OVOL2):c.-297+949T>C	OVOL2	Posterior polymorphous corneal dystrophy 1	122000	98973	http://www.ncbi.nlm.nih.gov/clinvar/variation/224839	224839	000210427	226679	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs869320627	18038617	18038618	20p11.23	A	ACCGGTTCCGGCGGCCGGGGCTG	Pathogenic	NM_001303461.1(OVOL2):c.-297+895_-297+916dup	OVOL2	Posterior polymorphous corneal dystrophy 1	122000	98973	http://www.ncbi.nlm.nih.gov/clinvar/variation/224837	224837	000210432	226677	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs869320628	18038648	18038648	20p11.23	A	G	Pathogenic	NM_001303461.1(OVOL2):c.-297+886T>C	OVOL2	Posterior polymorphous corneal dystrophy 1	122000	98973	http://www.ncbi.nlm.nih.gov/clinvar/variation/224838	224838	000210419	226678	no assertion criteria provided
rs2618599	chr20	17239173	18239173	rs2037617604	18122927	18122927	20p11.23	C	T	Likely pathogenic	NM_001164811.2(PET117):c.172C>T (p.Gln58Ter)	PET117	Mitochondrial complex 4 deficiency, nuclear type 19	619063	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/981504	981504	001260985	969590	criteria provided, single submitter
rs2618599	chr20	17239173	18239173	rs771882905	18143317	18143317	20p11.23	G	A	Likely pathogenic	NM_001392073.1(KAT14):c.1396G>A (p.Glu466Lys)	KAT14	Global developmental delay;Seizure	NA;NA	NA;NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/402155	402155	000454346	389178	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	NA	38097373	39306081	22q13.1	NA	NA	Pathogenic	NC_000022.10:g.(?_38097373)_(39306081_?)del	TRIOBP	not provided	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/2423540	2423540	003122369	1945757	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	NA	38565205	38565433	22q13.1	NA	NA	Pathogenic	NC_000022.10:g.(?_38565205)_(38565433_?)del	PLA2G6	Infantile neuroaxonal dystrophy	256600	35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/1453196	1453196	001994747	1428482	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	NA	38565205	38565453	22q13.1	NA	NA	Pathogenic	NC_000022.11:g.(?_38169198)_(38169446_?)del	PLA2G6	Infantile neuroaxonal dystrophy	256600	35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/583663	583663	000707946	575208	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	NA	38565223	38565223	22q13.1	A	C	Likely pathogenic	NM_003560.4(PLA2G6):c.209+2T>G	PLA2G6	Infantile neuroaxonal dystrophy	256600	35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/1497317	1497317	002019802	1475938	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	NA	38565225	38565434	22q13.1	NA	NA	Pathogenic	GRCh37/hg19 22q13.1(chr22:38565225-38565434)	PLA2G6	Infantile neuroaxonal dystrophy	256600	35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/916003	916003	001195157	904227	no assertion criteria provided
rs3788544	chr22	38564966	39564966	NA	38565225	38565478	22q13.1	NA	NA	Pathogenic	Single allele	PLA2G6	Infantile neuroaxonal dystrophy	256600	35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/374373	374373	000414802	361274	no assertion criteria provided
rs3788544	chr22	38564966	39564966	rs886039552	38565226	38565226	22q13.1	G	A	Pathogenic	NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter)	PLA2G6	not provided|Infantile neuroaxonal dystrophy	NA|256600	NA|35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/265449	265449	000255422|001205763	260265	criteria provided, multiple submitters, no conflicts
rs3788544	chr22	38564966	39564966	rs1177564212	38565270	38565270	22q13.1	C	T	Pathogenic	NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter)	PLA2G6	Infantile neuroaxonal dystrophy	256600	35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/803694	803694	000990445	792069	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	NA	38565307	38565307	22q13.1	G	A	Pathogenic	NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)	PLA2G6	PLA2G6-associated neurodegeneration	NA	329303	http://www.ncbi.nlm.nih.gov/clinvar/variation/2412654	2412654	002789946	2401386	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	rs200075782	38565325	38565325	22q13.1	G	A	Pathogenic	NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)	PLA2G6	Infantile neuroaxonal dystrophy|Iron accumulation in brain|not provided|PLA2G6-associated neurodegeneration|Neurodegeneration with brain iron accumulation 2B	256600|NA|NA|NA|610217	35069|NA|NA|329303|35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/30370	30370	000023318|000147282|000255026|002513187|003105777	39327	criteria provided, multiple submitters, no conflicts
rs3788544	chr22	38564966	39564966	rs587784356	38565430	38565430	22q13.1	G	T	Likely pathogenic	NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys)	PLA2G6	Iron accumulation in brain	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/159772	159772	000147328	169821	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	rs764959600	38565431	38565431	22q13.1	C	A	Pathogenic	NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile)	PLA2G6	Infantile neuroaxonal dystrophy	256600	35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/429031	429031	000578770	420984	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	NA	38565433	38565433	22q13.1	T	C	Pathogenic	NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)	PLA2G6	PLA2G6-associated neurodegeneration	NA	329303	http://www.ncbi.nlm.nih.gov/clinvar/variation/2412655	2412655	002789947	2401387	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	NA	38575740	38578170	22q13.1	ATTGCATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAATAAATAAATCAATAAATAAATACTTCAAGTTTGAAAAGCCTAAGTTTGAGGTGCTGAGTAAGCAACTAGATTTGAGTATGTCATTCCAGGGAAAGGTCTGGACTGGACTGGGGATATAAATTTGTGGGCTGACAGAATAGAGACGGCACTTAAAGAAATAAGACTGGATGAGATCACCATCCGAAAACGAGAAGAGGCATTTAAGACATGACCCTATCAAAATCCACTGTGAAAGACACAGAACATATTCTCCCAGGGAGCCACCCTCTACAAAGTGAAGTTTGTAACACACTCTTCACTACGGCCCCTTACTCCTTGCCTACCTACTTCCCCCAGCACACACACCCAATAGATGTCTGCAGACACACACACACACACACACACACACACACACACACACACACAGAGTATTTAAATTTCTCCTTTCTGTATCTCTTAGTGATGTCATTCTGCTGAGTAAGAGGGAAACTCCCTTTTGGGGAGTCTCTCATGTAACAAGAAAGTAATCCACGGAAGGAACAAGAAGTGTCCTAAACAGTAGCAAACCTTACACATCAGGACAATCACACAGGCTCTGGTGTCAGATTCCAGCTTCAACCTCATCGGTGTGACCTCAAGCAACTCATGCGCCCTCTTTTTCTCATGTGAAGTGAGAATATCATTGGCCACACCAAGGGTAGCCTAGAACATCAGACAGTCCGTAAATATTTGTTAGATAAACGATGACTGAATGAATGGTGAAGAGAACATATACAGAAGAGCCTGACTCACAAGAGGTGATGAACAAACACTGCCAAATGATACACTGAAAGACAAGGGACCTCCTGCTCATCCTTCTCTCCTTGTCTTCTCATTCTAGCCCTTTCCCTTTCCACTCCTTTCAATTCTGCCTATGACCCAACAGTAAAATCATGTATTTGTACAGGGCCATACTGGTTATAAAGCTTTACCTTCTACATTTTCTCATTCAAATTTTGAACCTCATGGCAGACTTACGAGGGCAGGAGGTACAGTTCCCCTGTCACAGATGAGGAAACTGAGACTTGGACAGAAAACAGGTTCCAAACTCCAGGCAGAAACTCTAACAAAAACAATGCATTCAAAAACAATGCATTCAGCCCAAGGGTGCAGCCTCAACGTTGCCAAACCGAACCTGCCTGACATCCTGTTGGGCGGGTAAGAGGCAGGTGAGGGAAAGACCCAGAAGCTAGGGGGAGGTATTCGTTGGGGTCATGTGGGTAGCCCATTAAAAATACGGCCACAGGTCCCCTTGCCCTGTGCCCTCCCTGTCCCACACCCACAGGCTTGCCCCGACCCAGTCCCATGATCACCCTGGTCACATGCTCCCTGTCACCAGCTTCCAAGTCATCTGTGGGAGCAGGAGGTGGACACAGGATTAGGGGTGGGAGACTCTGGGGTGGCCAGGCTGAGGGGAAGGAGGGAGCATGTCGGGGGCAGGTCTGGAGGCACGCGAGAGAGGAAAGGCAAGGAAAAAAAGCAGGGAGGAAAGGCAGGAGAAGCAGGGAGTGAGAAATGAGTAGAGGCACCACGAAAGGTGGAGACGGACGTGAAGTGGGGAATCAAGTGAGCACTTAGAGGAGCACAGGAAGGAAAATTAGGACGGCCAATGGGGCCTAAAGAGGCACTGAGGGTCGGGGAAAGAGAAGAGATGGATTGACTCGGGAAGTTAGGGATACTGAGGGAGACACACGGAGGAGACTGGGGTTCAGGGGAGAAACTCAGGGTCGAAGCTGGGGTCCCTGGGGTCCACAAGTTCGAGATGAGACACGGGCGGTCTCGGGATGGGAATTGGGGACGCAGGGGGATGAAAAGATGGAAGGTGGGGGCACTCAGGGAGTCACATAAGGGTTAATGGAGGACATGCCTCAGAATCGGAGACACGAGGAATATCCAAAGGAGGGTCCGGCGGAGACTTGGGAGTCCGGAGCGCCGAGGAAGTTGGGGAACGGACCCCCAGGCCCCGCCCACCCGCGAGGTCACTCACCTCGGCTTACTCAGCACTTCTACTTCCTCCTACTTCCGCAAACAAACGGGCCTCGGGCCACGTGATGGCCTGACCACCGCTCTCCGCCAATCACTGGTGGCCCTGTCCCAGGCCTCCTCTAGGCTCCGCCCCCGCGCCCGAGGACGGCGGGAGGCGGGGTCCGCCATTTTTTTTAACTGCCCAATGGAAGGGGCTCCCTTAGCCAGGAGGACGAGCTTTCGGCGGGAGCCAATCCTCGGCGGCGAGGCGCGGCCATGTTTGTGCGGGGCAGAAGGTGCCCGGCTTCTTGGCAGTCCTGTTGATGAGGGCCAGGAGTCCTACCCTAGTCCGCCTTCCGCCTCCTAAAGCGACCAGAGCCTGGAGTCTGAAGTTACTGTTAA	GAGATCG	Pathogenic	NM_003560.2(PLA2G6):c.-545_-46+1931delinsCGATCTC	PLA2G6	Infantile neuroaxonal dystrophy	256600	35069	http://www.ncbi.nlm.nih.gov/clinvar/variation/584440	584440	000708573	575509	criteria provided, single submitter
rs3788544	chr22	38564966	39564966	rs1569077009	38694790	38694790	22q13.1	C	T	Pathogenic	NM_152221.3(CSNK1E):c.885+1G>A	CSNK1E	Developmental and epileptic encephalopathy, 1	308350	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/590290	590290	000721134	581231	no assertion criteria provided
rs3788544	chr22	38564966	39564966	NA	38917706	38917706	22q13.1	G	T	Pathogenic	NM_007068.4(DMC1):c.860C>A (p.Pro287His)	DMC1	Azoospermia	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1328945	1328945	001797568	1319632	no assertion criteria provided
rs3788544	chr22	38564966	39564966	NA	38951377	38951377	22q13.1	T	C	Pathogenic	NM_007068.4(DMC1):c.364A>G (p.Thr122Ala)	DMC1	Azoospermia	NA	NA	http://www.ncbi.nlm.nih.gov/clinvar/variation/1328944	1328944	001797567	1319631	no assertion criteria provided
rs3788544	chr22	38564966	39564966	rs1318058212	39064116	39064117	22q13.1	A	ATC	Pathogenic	NM_015373.4(CBY1):c.64_65dup (p.Asn23fs)	CBY1	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/694265	694265	001263195	682111	no assertion criteria provided
rs3788544	chr22	38564966	39564966	rs747514855	39067079	39067080	22q13.1	CAG	C	Pathogenic	NM_015373.4(CBY1):c.189_190del (p.Gly64_Val65insTer)	CBY1	Familial aplasia of the vermis	NA	475	http://www.ncbi.nlm.nih.gov/clinvar/variation/694056	694056	001263194	681862	no assertion criteria provided
rs3788544	chr22	38564966	39564966	rs606231254	39176929	39176929	22q13.1	A	G	Pathogenic	NM_005740.3(DNAL4):c.153+2T>C	DNAL4	Mirror movements 3	616059	238722	http://www.ncbi.nlm.nih.gov/clinvar/variation/157500	157500	000144852	167358	no assertion criteria provided
