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[{"$nulls":9},"Supplementary Table 1. All the potential variations that were pathogenic detected by WES"]
["Gene","Chrom","POS","dbSNPs","REF","ALT","Mother FILTER","Mother Variant type","Younger brother FILTER","Younger brother Variant type","Elder brother FILTER","Elder brother Variant type","Num of samples","Func.refGene","GeneDetail.refGene","ExonicFunc.refGene","AAChange.refGene","OMIN disease","HPO","HGMD"]
["SBF2","11p15.4",10011123,"rs754505342","T","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","SBF2: NM_030962:exon13:c.A1316T:p.E439V","Charcot-Marie-Tooth disease, type 4B2, 604563 (3)","Decreased number of peripheral myelinated nerve fibers, Ulnar claw, Sensorineural hearing impairment, Hyporeflexia, Heterogeneous, Segmental peripheral demyelination/remyelination, Juvenile onset, Distal amyotrophy, Talipes equinovarus, Onion bulb formation, Areflexia, Split hand, Kyphoscoliosis, Autosomal recessive inheritance, Pes cavus, Glaucoma, Distal sensory impairment, Decreased motor nerve conduction velocity, Hammertoe, Distal muscle weakness, Foot dorsiflexor weakness, Difficulty walking, Steppage gait","Charcot-Marie-Tooth disease type 4B2, Hereditary motor & sensory neuropathy, Peripheral neuropathy, Developmental disorder, Autism spectrum disorder, Charcot-Marie-Tooth disease, Thrombocytopaenia"]
["BSCL2","11q12.3",62459866,"rs185341934","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","BSCL2: NM_001122955:exon6:c.C845T:p.A282V,BSCL2: NM_001130702:exon6:c.C653T:p.A218V,BSCL2: NM_032667:exon6:c.C653T:p.A218V","Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)|Lipodystrophy, congenital generalized, type 2, 269700 (3)|Neuropathy, distal hereditary motor, type VA, 600794 (3)|Silver spastic paraplegia syndrome, 270685 (3)","Decreased fertility, Reduced intrathoracic adipose tissue, High pitched voice, Hirsutism, Cirrhosis, Decreased fertility in females, Heterogeneous, Intellectual disability, mild, Splenomegaly, Clitoral hypertrophy, Macrotia, Generalized muscular appearance from birth, Hepatic steatosis, Hypertriglyceridemia, Accelerated skeletal maturation, Triangular face, Acanthosis nigricans, Tall stature, Nephrolithiasis, Labial hypertrophy, Mandibular prognathia, Large hands, Elevated hepatic transaminases, Lipodystrophy, Cystic angiomatosis of bone, Insulin-resistant diabetes mellitus at puberty, Acute pancreatitis, Polyphagia, Umbilical hernia, Hepatomegaly, Decreased serum leptin, Congenital onset, Autosomal recessive inheritance, Prominent umbilicus, Polycystic ovaries, Hyperinsulinemia, Hypertrophic cardiomyopathy, Long foot, Amenorrhea, Prominent supraorbital ridges, Peripheral neuropathy, Renal insufficiency, Hepatic failure, Glomerulopathy, Oligomenorrhea, Intellectual disability, Immunodeficiency, Nephropathy, Diabetes mellitus, Abnormality of skin pigmentation, Pancreatitis, Bone cyst, Hyperhidrosis, Ventriculomegaly, Insulin resistance, Skeletal muscle hypertrophy, Arterial stenosis, Precocious puberty, Recurrent fractures, Lipoatrophy, Growth hormone excess, Myocardial infarction, Broad foot, Abnormality of the oral cavity, Pulmonary arterial hypertension, Generalized hirsutism, Brisk reflexes, Poor motor coordination, Tremor, Cerebral atrophy, Progressive psychomotor deterioration, Sleep disturbance, Reduced subcutaneous adipose tissue, Spasticity, Myopathy, Myoclonus, Hypertension, Caudate atrophy, Coarse facial features, Gait ataxia, Reduced intraabdominal adipose tissue, Tetraparesis, Status epilepticus, Abnormal pyramidal signs, Progressive encephalopathy, Delayed speech and language development, Hyperactivity, Limb dystonia, Neuronal loss in central nervous system, Respiratory failure, Generalized lipodystrophy, Autosomal dominant inheritance, Hyperreflexia, First dorsal interossei muscle weakness, Thenar muscle atrophy, Lower limb muscle weakness, Thenar muscle weakness, Spastic gait, Pes cavus, Slow progression, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lower limbs, First dorsal interossei muscle atrophy, Babinski sign, Developmental regression, Loss of speech, Encephalopathy, Progressive, Seizures, Dystonia, Mental deterioration, Ataxia, Cold-induced hand cramps, Pes planus, Onset, Distal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Hammertoe","Berardinelli-Seip lipodystrophy, Spastic paraplegia, Spastic ataxia (cellebellar and pyramidal signs), Lipodystrophy congenital generalized type 2 with progressive myoclonus epilepsy, Hypercholesterolaemia, Progressive encephalopathy with lipodystrophy, Neurodegenerative syndrome, Lipodystrophy congenital generalised, Lipodystrophy congenital generalized, Spastic paraplegia 17, Hereditary motor neuropathy, Charcot-Marie-Tooth disease type 2, Spinal muscular atrophy distal, Lipodystrophy & teratozoospermia"]
["BSCL2","11q12.3",62462141,".","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","BSCL2: NM_001122955:exon4:c.G529A:p.E177K,BSCL2: NM_001130702:exon4:c.G337A:p.E113K,BSCL2: NM_032667:exon4:c.G337A:p.E113K","Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)|Lipodystrophy, congenital generalized, type 2, 269700 (3)|Neuropathy, distal hereditary motor, type VA, 600794 (3)|Silver spastic paraplegia syndrome, 270685 (3)","Decreased fertility, Reduced intrathoracic adipose tissue, High pitched voice, Hirsutism, Cirrhosis, Decreased fertility in females, Heterogeneous, Intellectual disability, mild, Splenomegaly, Clitoral hypertrophy, Macrotia, Generalized muscular appearance from birth, Hepatic steatosis, Hypertriglyceridemia, Accelerated skeletal maturation, Triangular face, Acanthosis nigricans, Tall stature, Nephrolithiasis, Labial hypertrophy, Mandibular prognathia, Large hands, Elevated hepatic transaminases, Lipodystrophy, Cystic angiomatosis of bone, Insulin-resistant diabetes mellitus at puberty, Acute pancreatitis, Polyphagia, Umbilical hernia, Hepatomegaly, Decreased serum leptin, Congenital onset, Autosomal recessive inheritance, Prominent umbilicus, Polycystic ovaries, Hyperinsulinemia, Hypertrophic cardiomyopathy, Long foot, Amenorrhea, Prominent supraorbital ridges, Peripheral neuropathy, Renal insufficiency, Hepatic failure, Glomerulopathy, Oligomenorrhea, Intellectual disability, Immunodeficiency, Nephropathy, Diabetes mellitus, Abnormality of skin pigmentation, Pancreatitis, Bone cyst, Hyperhidrosis, Ventriculomegaly, Insulin resistance, Skeletal muscle hypertrophy, Arterial stenosis, Precocious puberty, Recurrent fractures, Lipoatrophy, Growth hormone excess, Myocardial infarction, Broad foot, Abnormality of the oral cavity, Pulmonary arterial hypertension, Generalized hirsutism, Brisk reflexes, Poor motor coordination, Tremor, Cerebral atrophy, Progressive psychomotor deterioration, Sleep disturbance, Reduced subcutaneous adipose tissue, Spasticity, Myopathy, Myoclonus, Hypertension, Caudate atrophy, Coarse facial features, Gait ataxia, Reduced intraabdominal adipose tissue, Tetraparesis, Status epilepticus, Abnormal pyramidal signs, Progressive encephalopathy, Delayed speech and language development, Hyperactivity, Limb dystonia, Neuronal loss in central nervous system, Respiratory failure, Generalized lipodystrophy, Autosomal dominant inheritance, Hyperreflexia, First dorsal interossei muscle weakness, Thenar muscle atrophy, Lower limb muscle weakness, Thenar muscle weakness, Spastic gait, Pes cavus, Slow progression, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lower limbs, First dorsal interossei muscle atrophy, Babinski sign, Developmental regression, Loss of speech, Encephalopathy, Progressive, Seizures, Dystonia, Mental deterioration, Ataxia, Cold-induced hand cramps, Pes planus, Onset, Distal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Hammertoe","Berardinelli-Seip lipodystrophy, Spastic paraplegia, Spastic ataxia (cellebellar and pyramidal signs), Lipodystrophy congenital generalized type 2 with progressive myoclonus epilepsy, Hypercholesterolaemia, Progressive encephalopathy with lipodystrophy, Neurodegenerative syndrome, Lipodystrophy congenital generalised, Lipodystrophy congenital generalized, Spastic paraplegia 17, Hereditary motor neuropathy, Charcot-Marie-Tooth disease type 2, Spinal muscular atrophy distal, Lipodystrophy & teratozoospermia"]
["LAMA3","18q11.2",21353663,".","G","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","LAMA3: NM_001302996:exon9:c.G1385T:p.S462I","Cardiomyopathy, dilated, 1JJ, 615235 (3)|Epidermolysis bullosa, generalized atrophic benign, 226650 (3)|Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)|Laryngoonychocutaneous syndrome, 245660 (3)","Recurrent loss of toenails and fingernails, Autosomal recessive inheritance, Abnormality of the eye, Amelogenesis imperfecta, Hoarse cry, Infantile onset, Weak cry, Skin ulcer, Anonychia, Scarring alopecia of scalp, Nail dystrophy, Palmoplantar keratoderma, Atrophic scars, Growth delay, Aplasia cutis congenita, Oral mucosal blisters, Anemia, Sparse body hair, Milia, Hypoplasia of dental enamel, Abnormality of skin pigmentation, Nail dysplasia, Congenital onset, Pyloric stenosis, Death in infancy, Congenital localized absence of skin, Junctional split, Carious teeth, Failure to thrive, Respiratory failure, Dyspnea, Feeding difficulties, Skin erosion, Narrow mouth, Hoarse voice, Paronychia, Esophageal stricture, Laryngeal stridor, Abnormal blistering of the skin, Recurrent skin infections, Laryngeal stenosis, Onycholysis, Mitten deformity, Ankyloglossia, Osteoporosis, Squamous cell carcinoma of the skin, Alopecia, Dilated cardiomyopathy, Dehydration, Plantar hyperkeratosis, Camptodactyly of finger, Palmar hyperhidrosis, Fragile nails, Hypodontia, Heterogeneous","Pulmonary fibrosis idiopathic, Autism spectrum disorder, Breast cancer, Epidermolysis bullosa dystrophic, Epidermolysis bullosa junctional, Epidermolysis bullosa Herlitz, Laryngo-onycho-cutaneous syndrome, Tooth agenesis, Amelogenesis imperfecta nonsyndromic, Epidermolysis bullosa junctional non-Herlitz, Epidermolysis bullosa generalised intermediate"]
["MED25","19q13.33",50339510,"rs770686254","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","MED25: NM_030973:exon17:c.G1993A:p.A665T","?Charcot-Marie-Tooth disease, type 2B2, 605589 (3)|Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)","Hyporeflexia, Distal amyotrophy, Adult onset, Distal muscle weakness, Areflexia, Distal sensory impairment, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Microcephaly, Tented upper lip vermilion, Hypospadias, Epicanthus, Sparse hair, Abnormal cardiac septum morphology, Downslanted palpebral fissures, Seizures, Cleft palate, Ptosis, Everted lower lip vermilion, Hypertelorism, Congenital onset, Hydronephrosis, Ventriculomegaly, Cataract, Global developmental delay, Spasticity, Scoliosis, Microcornea, Kyphosis, Short philtrum, Hypoplasia of the corpus callosum, Generalized hypotonia, Strabismus","Eye-intellectual disability syndrome, Basel-Vanagaite-Smirin-Yosef syndrome, Intellectual disability nonsyndromic, Charcot-Marie-Tooth disease type 2B2"]
["WNT10A","2q35",219754840,"rs116998555","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","WNT10A: NM_025216:exon3:c.C511T:p.R171C","Odontoonychodermal dysplasia, 257980 (3)|Schopf-Schulz-Passarge syndrome, 224750 (3)|Tooth agenesis, selective, 4, 150400 (3)","Dry skin, Reduced number of teeth, Autosomal recessive inheritance, Autosomal dominant inheritance, Peg-shaped maxillary lateral incisors, Sparse hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Nail dysplasia, Dry hair, Anonychia, Fine hair, Smooth tongue, Sparse scalp hair, Agenesis of permanent teeth, Dystrophic toenail, Hypodontia, Abnormality of primary teeth, Palmoplantar hyperhidrosis, Plantar hyperkeratosis, Hyperhidrosis, Erythema, Sparse body hair, Sparse and thin eyebrow, Epidermal acanthosis, Hypohidrosis, Photophobia, Premature loss of primary teeth, Alopecia, Abnormality of dental morphology, Abnormal toenail morphology, Abnormality of the fingernails, Hypoplasia of teeth, Ectodermal dysplasia, Narrow nail, Basal cell carcinoma, Ridged nail, Squamous cell carcinoma, Small nail, Onycholysis, Palmoplantar keratoderma, Abnormality of the eye, Hypotrichosis, Bird-like facies, Thin nail, Oligodontia, Micrognathia, Hypoplasia of the maxilla, Microdontia, Facial telangiectasia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm","Ectodermal dysplasia, Tooth agenesis, Hypodontia non-syndromic, Sch枚pf-Schulz-Passarge syndrome, Selective tooth agenesis nonsyndromic, Ectodermal dysplasia hypohidrotic, Odonto-onycho-dermal dysplasia, Selective tooth agenesis syndromic, Maxillary lateral incisor agenesis, Multiple congenital anomalies, Ectodermal derivative impairment, Hypodontia, Oligodontia, Dental anomalies isolated, Scoliosis severe"]
["WNT10A","2q35",219754966,"rs147680216","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","WNT10A: NM_025216:exon3:c.G637A:p.G213S","Odontoonychodermal dysplasia, 257980 (3)|Schopf-Schulz-Passarge syndrome, 224750 (3)|Tooth agenesis, selective, 4, 150400 (3)","Dry skin, Reduced number of teeth, Autosomal recessive inheritance, Autosomal dominant inheritance, Peg-shaped maxillary lateral incisors, Sparse hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Nail dysplasia, Dry hair, Anonychia, Fine hair, Smooth tongue, Sparse scalp hair, Agenesis of permanent teeth, Dystrophic toenail, Hypodontia, Abnormality of primary teeth, Palmoplantar hyperhidrosis, Plantar hyperkeratosis, Hyperhidrosis, Erythema, Sparse body hair, Sparse and thin eyebrow, Epidermal acanthosis, Hypohidrosis, Photophobia, Premature loss of primary teeth, Alopecia, Abnormality of dental morphology, Abnormal toenail morphology, Abnormality of the fingernails, Hypoplasia of teeth, Ectodermal dysplasia, Narrow nail, Basal cell carcinoma, Ridged nail, Squamous cell carcinoma, Small nail, Onycholysis, Palmoplantar keratoderma, Abnormality of the eye, Hypotrichosis, Bird-like facies, Thin nail, Oligodontia, Micrognathia, Hypoplasia of the maxilla, Microdontia, Facial telangiectasia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm","Ectodermal dysplasia, Tooth agenesis, Hypodontia non-syndromic, Sch枚pf-Schulz-Passarge syndrome, Selective tooth agenesis nonsyndromic, Ectodermal dysplasia hypohidrotic, Odonto-onycho-dermal dysplasia, Selective tooth agenesis syndromic, Maxillary lateral incisor agenesis, Multiple congenital anomalies, Ectodermal derivative impairment, Hypodontia, Oligodontia, Dental anomalies isolated, Scoliosis severe"]
["EDA","Xq13.1",69253332,".","T","G","PASS","Heterozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"exonic",".","nonsynonymous SNV","EDA: NM_001005609:exon7:c.T878G:p.L293R,EDA: NM_001005612:exon7:c.T869G:p.L290R,EDA: NM_001399:exon7:c.T878G:p.L293R","Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)|Tooth agenesis, selective, X-linked 1, 313500 (3)","Anhidrosis, Brittle hair, Thin skin, Heterogeneous, Hypoplasia of the maxilla, Hypodontia, Eczema, Short chin, Thick vermilion border, Sparse and thin eyebrow, Hypoplastic-absent sebaceous glands, Taurodontia, Soft skin, Absent eyebrow, Hypohidrotic ectodermal dysplasia, Frontal bossing, Microdontia, Dry skin, Depressed nasal bridge, Conical tooth, Short nose, Concave nail, Prominent supraorbital ridges, Abnormality of oral mucosa, Absent nipple, Periorbital wrinkles, Sparse eyelashes, X-linked recessive inheritance, Heat intolerance, Hypotrichosis, Periorbital hyperpigmentation, Hoarse voice, Everted upper lip vermilion, Everted lower lip vermilion, Hypoplastic nipples, Hypohidrosis, Underdeveloped nasal alae, Respiratory distress, Dysphonia, Aplasia/Hypoplastia of the eccrine sweat glands, Fever, Oligodontia, X-linked dominant inheritance, Short distal phalanx of finger, Type I diabetes mellitus, Delayed eruption of teeth, Depressed nasal ridge, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Anterior hypopituitarism, Hypertension, Micrognathia","Ectodermal dysplasia, Ectodermal dysplasia hypohidrotic, Ectodermal dysplasia hypohidrotic & inability to sweat, Tooth agenesis, Autism spectrum disorder with ectodermal dysplasia, Ectodermal dysplasia hypohidrotic X-linked, Hypodontia, Abnormality of metabolism/homeostasis, Oligodontia"]
["NADK","1p36.33",1688567,"rs746550458","G","GC",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","frameshift insertion","NADK: NM_001198994:exon6:c.757dupG:p.A253fs","---","---","---"]
["PRDM16","1p36.32",3319422,"rs759496757","TAAG","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonframeshift deletion","PRDM16: NM_022114:exon6:c.745 747del:p.249 249del,PRDM16: NM_199454:exon6:c.745 747del:p.249 249del","Cardiomyopathy, dilated, 1LL, 615373 (3)|Left ventricular noncompaction 8, 615373 (3)","Sensorineural hearing impairment, Myopathy, Abnormality of neutrophils, Palmoplantar keratoderma, Dilated cardiomyopathy, Lipoatrophy, Elevated serum creatine phosphokinase, EMG abnormality, Global developmental delay, Neuroblastoma, Aortic arch aneurysm, Ocular albinism, Hypoplasia of penis, Foot polydactyly, Abnormality of the neck, Ventriculomegaly, Cerebral cortical atrophy, Scoliosis, Pointed chin, Abnormal cardiac septum morphology, Microcephaly, Depressed nasal ridge, Cryptorchidism, Short foot, Spinal canal stenosis, Nystagmus, Stereotypy, Joint stiffness, Generalized hirsutism, Deeply set eye, Dysphagia, Patent ductus arteriosus, 11 pairs of ribs, Constipation, Abnormal heart valve morphology, Narrow mouth, Conductive hearing impairment, Wide nasal bridge, Seizures, Absent speech, Rib fusion, Abnormality of the anus, Macule, Kyphosis, Camptodactyly of finger, Abnormal blistering of the skin, Abnormal intestine morphology, Low-set, posteriorly rotated ears, Hip dysplasia, Brachycephaly, Hypospadias, Abnormality of female external genitalia, Hydronephrosis, Telangiectasia, Brachydactyly, Cranial nerve paralysis, Gait disturbance, Optic atrophy, Depressed nasal bridge, Long philtrum, Intellectual disability, Agenesis of corpus callosum, Abnormality of the spleen, EEG abnormality, Bifid ribs, Gastroesophageal reflux, Delayed cranial suture closure, Hepatic steatosis, Horizontal eyebrow, Obesity, Short stature, Microtia, Hypogonadism, Clinodactyly of the 5th finger, Autism, Hypothyroidism, Feeding difficulties in infancy, Cataract, Frontal bossing, Strabismus, Poor speech, High hypermetropia, Hemiplegia/hemiparesis, Visual impairment, Muscular hypotonia, Renal cyst, Midface retrusion, Polyphagia, Lower limb asymmetry, Failure to thrive, Pyloric stenosis, Tetralogy of Fallot, Annular pancreas, Self-injurious behavior, Epicanthus, Autosomal dominant inheritance, Mitral regurgitation, Arrhythmia, Congestive heart failure, Abnormal left ventricle morphology, Left ventricular noncompaction","Lean body mass association with, Noncompaction left ventricular, Cardiomyopathy dilated, Left ventricular noncompaction, Sudden unexpected death in infancy, Sudden unexplained death"]
["VPS13D","1p36.22",12336751,"rs200357229","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","VPS13D: NM_015378:exon19:c.C3106T:p.R1036W,VPS13D: NM_018156:exon19:c.C3106T:p.R1036W","---","---","Autism spectrum disorder, Developmental disorder, Schizophrenia, Intrauterine fetal death, Movement disorder childhood onset"]
["SERINC2","1p35.2",31897623,"rs144622850","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","SERINC2: NM_001199037:exon3:c.C307T:p.R103C,SERINC2: NM_018565:exon3:c.C307T:p.R103C,SERINC2: NM_178865:exon3:c.C295T:p.R99C,SERINC2: NM_001199038:exon4:c.C322T:p.R108C,SERINC2: NM_001199039:exon4:c.C130T:p.R44C","---","---","Alcohol dependence association with"]
["S100PBP","1p35.1",33292336,"rs760067412","CTCT","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonframeshift deletion","S100PBP: NM_001256121:exon3:c.637 639del:p.213 213del,S100PBP: NM_022753:exon3:c.637 639del:p.213 213del","---","---","---"]
["COL9A2","1p34.2",40766888,"rs199897562","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","COL9A2: NM_001852:exon32:c.G2036A:p.R679H","?Stickler syndrome, type V, 614284 (3)|Epiphyseal dysplasia, multiple, 2, 600204 (3)","Short palm, Knee osteoarthritis, Small epiphyses, Waddling gait, Irregular epiphyses, Epiphyseal dysplasia, Heterogeneous, Flattened epiphysis, Mild short stature, Genu varum, Autosomal dominant inheritance, Childhood onset, Astigmatism, Cataract, Joint hyperflexibility, Retinal detachment, Sensorineural hearing impairment, Platyspondyly, Cleft palate, Malar flattening, Short stature, Irregular vertebral endplates, Vitreoretinal degeneration, Micrognathia, Flat face, Genu valgum, Amblyopia, Myopia, Abnormality of epiphysis morphology, Gait disturbance, Micromelia, Limitation of joint mobility, Hip dysplasia, Osteoarthritis, Arthralgia, Autosomal recessive inheritance, High myopia","Lumbar stenosis, Intervertebral disc disease, Myopia, Stickler syndrome, Multiple epiphyseal dysplasia"]
["UQCRH","1p34.1",46775975,"rs181971906","C","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","UQCRH: NM_001297566:exon2:c.C203A:p.A68E,UQCRH: NM_006004:exon3:c.C230A:p.A77E,UQCRH: NM_001297565:exon4:c.C212A:p.A71E","---","---","---"]
["WLS","1p31.3",68624855,".","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","WLS: NM_001193334:exon2:c.C182T:p.A61V,WLS: NM_001002292:exon3:c.C449T:p.A150V,WLS: NM_024911:exon3:c.C455T:p.A152V","---","---","---"]
["FPGT-TNNI3K;TNNI3K","1p31.1",74929170,"rs3737564","T","C","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","TNNI3K: NM_015978:exon21:c.T2057C:p.I686T,FPGT-TNNI3K: NM_001112808:exon23:c.T2399C:p.I800T,FPGT-TNNI3K: NM_001199327:exon23:c.T2399C:p.I800T",".",".","."]
["ADGRL2","1p31.1",82421679,"rs750872794","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ADGRL2: NM_001297705:exon9:c.G1901A:p.G634E,ADGRL2: NM_001297706:exon9:c.G1901A:p.G634E,ADGRL2: NM_001350699:exon9:c.G1901A:p.G634E,ADGRL2: NM_012302:exon9:c.G1901A:p.G634E,ADGRL2: NM_001297704:exon10:c.G1901A:p.G634E,ADGRL2: NM_001330645:exon10:c.G1940A:p.G647E,ADGRL2: NM_001350698:exon11:c.G1952A:p.G651E","---","---","Schizophrenia, Autism spectrum disorder, Extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis"]
["KYAT3","1p22.2",89435119,"rs137996925","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","KYAT3: NM_001008662:exon2:c.G29A:p.R10Q,KYAT3: NM_001008661:exon3:c.G131A:p.R44Q,KYAT3: NM_001349447:exon3:c.G29A:p.R10Q,KYAT3: NM_001349448:exon4:c.G131A:p.R44Q","---","---","Autism spectrum disorder"]
["BCAR3","1p22.1",94054805,"rs190069670","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","BCAR3: NM_001261410:exon3:c.G385A:p.E129K,BCAR3: NM_001261409:exon5:c.G658A:p.E220K,BCAR3: NM_003567:exon5:c.G658A:p.E220K,BCAR3: NM_001261408:exon7:c.G658A:p.E220K","---","---","---"]
["S100A1","1q21.3",153604293,"rs1046256","C","G","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","S100A1: NM_006271:exon3:c.C261G:p.N87K","---","---","---"]
["ASH1L","1q22",155308042,"rs190341782","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","ASH1L: NM_018489:exon27:c.C8641T:p.R2881W","Mental retardation, autosomal dominant 52, 617796 (3)","---","Autism spectrum disorder, Intellectual disability growth failure microcephaly facial dysmorphism & skeletal abnormalities, Intellectual disability / developmental delay, Intellectual disability, Congenital heart disease, Schizophrenia"]
["DAP3","1q22",155707954,"rs3841631","CAGA","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonframeshift deletion","DAP3: NM_001199850:exon12:c.1017 1019del:p.339 340del,DAP3: NM_001199851:exon12:c.996 998del:p.332 333del,DAP3: NM_004632:exon13:c.1119 1121del:p.373 374del,DAP3: NM_033657:exon13:c.1119 1121del:p.373 374del,DAP3: NM_001199849:exon14:c.1119 1121del:p.373 374del","---","---","Metabolic disorder, Autism spectrum disorder"]
["FCRL3","1q23.1",157668387,"rs368915059","G","C","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","FCRL3: NM_001320333:exon4:c.C85G:p.P29A,FCRL3: NM_052939:exon4:c.C85G:p.P29A","---","---","Graves' disease association with, Autoimmune pancreatitis association with, Autoimmune diseases association with"]
["CD1D","1q23.1",158151902,"rs149673076","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","stopgain","CD1D: NM_001319145:exon4:c.C409T:p.Q137X,CD1D: NM_001766:exon4:c.C409T:p.Q137X","---","---","Mental illness severe"]
["METTL13","1q24.3",171763595,"rs201545508","A","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","METTL13: NM_001007239:exon7:c.A1285C:p.M429L,METTL13: NM_014955:exon7:c.A1495C:p.M499L,METTL13: NM_015935:exon7:c.A1753C:p.M585L","---","---","Deafness profound suppressor of"]
["DNM3","1q24.3",171810818,".","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","DNM3: NM_001136127:exon1:c.G22A:p.E8K,DNM3: NM_001278252:exon1:c.G22A:p.E8K,DNM3: NM_001350204:exon1:c.G22A:p.E8K,DNM3: NM_001350205:exon1:c.G22A:p.E8K,DNM3: NM_001350206:exon1:c.G22A:p.E8K,DNM3: NM_015569:exon1:c.G22A:p.E8K","---","---","Reduced promoter activity, Left ventricular obstructionUnkwn"]
["ACBD6","1q25.3",180471194,"rs373637252","C","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","ACBD6: NM_032360:exon1:c.G208T:p.A70S","---","---","Abnormality of the nervous system, Intellectual disability"]
["NPL","1q25.3",182772897,"rs193141545","A","G",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","NPL: NM_001200051:exon4:c.A133G:p.N45D,NPL: NM_001200052:exon4:c.A133G:p.N45D,NPL: NM_001200056:exon4:c.A133G:p.N45D,NPL: NM_030769:exon4:c.A133G:p.N45D","---","---","Complex I deficiency"]
["DHX9","1q25.3",182821420,"rs573535598","AAGG","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonframeshift deletion","DHX9: NM_001357:exon4:c.306 308del:p.102 103del","---","---","Autism spectrum disorder"]
["PTGS2","1q31.1",186643853,"rs189679860","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","PTGS2: NM_000963:exon10:c.G1447A:p.D483N","---","---","Colorectal cancer risk association with, Lung cancer increased risk association with, Oesophageal cancer risk association with, Colorectal neoplasia reduced risk association, Altered enzyme activity, Diabetes mellitus type 2 association with, Bladder cancer risk association with, Reduced promoter activity association with"]
["ASPM","1q31.3",197065221,"rs754886176","T","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","ASPM: NM_001206846:exon18:c.A4139G:p.Y1380C,ASPM: NM_018136:exon19:c.A8894G:p.Y2965C","Microcephaly 5, primary, autosomal recessive, 608716 (3)","Global developmental delay, Intellectual disability, severe, Unilateral renal agenesis, Microcephaly, Vesicoureteral reflux, Pachygyria, Thin upper lip vermilion, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the frontal lobes, Hyperreflexia, Sloping forehead, Short stature, Abnormal cortical bone morphology, Heterotopia, Upslanted palpebral fissure, Cerebellar hypoplasia, Seizures, Cortical gyral simplification, Autosomal recessive inheritance, Delayed speech and language development, Highly arched eyebrow, Intellectual disability, Cortical dysplasia, Attention deficit hyperactivity disorder, Motor delay, Congenital onset, Small cerebral cortex, Proptosis, Hearing impairment, Narrow forehead, Hypoplasia of the corpus callosum","Primary microcephaly, Pituitary stalk interruption syndrome, Microcephaly 5, Microcephaly and intellectual disability, Abnormality of the nervous system, Intellectual disability moderate with facial dysmorphism and seizures, Intellectual disability, Microcephaly 5 primary autosomal recessive, Primary microcephaly with anterior predominant pachygyria, Autism spectrum disorder, Microcephaly primary autosomal recessive, Microcephaly with Seckel syndrome features"]
["ZNF281","1q32.1",200376547,"rs199743962","G","C","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","ZNF281: NM_001281293:exon2:c.C2287G:p.Q763E,ZNF281: NM_012482:exon2:c.C2287G:p.Q763E,ZNF281: NM_001281294:exon3:c.C2179G:p.Q727E","---","---","---"]
["CACNA1S","1q32.1",201058502,"rs186538122","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","CACNA1S: NM_000069:exon6:c.C784T:p.R262W","Hypokalemic periodic paralysis, type 1, 170400 (3)|{Malignant hyperthermia susceptibility 5}, 601887 (3)|{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)","Urinary retention, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Graves disease, Respiratory paralysis, Exercise-induced muscle fatigue, Hyperhidrosis, Late-onset proximal muscle weakness, Second degree atrioventricular block, Ventricular fibrillation, Constipation, Tremor, Tetraplegia, Increased intramyocellular lipid droplets, Weight loss, Rhabdomyolysis, Decreased urinary potassium, Hyporeflexia, Muscle cramps, Obesity, Postprandial hyperglycemia, Palpitations, Hyperkalemia, Muscle stiffness, Hypomagnesemia, Episodic flaccid weakness, Periodic hypokalemic paresis, Transient hypophosphatemia, Prolonged QT interval, Thyrotoxicosis with toxic multinodular goitre, Lower limb muscle weakness, Mildly elevated creatine phosphokinase, Ophthalmoparesis, Shortened PR interval, EMG abnormality, Fatigable weakness of respiratory muscles, Adrenocortical adenoma, Autosomal dominant inheritance, Hypokalemia, Incomplete penetrance, Myopathy, Periodic hyperkalemic paralysis","Malignant hyperthermia, Exertional heat illness, Myopathy/Muscular dystrophy, Malignant hyperthermia susceptiblity, Myopathy, Hypokalaemic periodic paralysis with malignant hyperthermia susceptibility 5, Normokalaemic periodic paralysis, Hypokalaemic periodic paralysis, Schizophrenia, Takotsubo (stress) cardiomyopathy, Rhabdomyolysis, Rhabdomyolysis & fluctuating asymptomatic hyperCKaemia, Hypokalaemic periodic paralysis association with, Autism spectrum disorder"]
["GPATCH2","1q41",217604654,"rs35737297","T","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","GPATCH2: NM_018040:exon10:c.A1420G:p.M474V","---","---","---"]
["TP53BP2","1q41",223987705,"rs755330448","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","TP53BP2: NM_001031685:exon11:c.C1381T:p.R461C,TP53BP2: NM_005426:exon12:c.C994T:p.R332C","---","---","Tourette syndrome, Tetralogy of Fallot, Bone marrow failure, Glaucoma primary open angle"]
["CDC42BPA","1q42.13",227192806,"rs373302295","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","CDC42BPA: NM_014826:exon33:c.C4516T:p.R1506W,CDC42BPA: NM_003607:exon34:c.C4759T:p.R1587W","---","---","Developmental disorder, Autism spectrum disorder"]
["PRSS38","1q42.13",228033667,"rs148707018","G","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","PRSS38: NM_183062:exon5:c.G739C:p.G247R","---","---","Autism spectrum disorder, Schizophrenia"]
["LOC149373","1q42.2",231320924,"rs554824872","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","LOC149373: NM_001256615:exon3:c.C208T:p.R70C",".",".","."]
["ACTN2","1q43",236925911,"rs142646143","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ACTN2: NM_001103:exon21:c.G2677A:p.D893N,ACTN2: NM_001278343:exon21:c.G2677A:p.D893N,ACTN2: NM_001278344:exon23:c.G2053A:p.D685N","Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)|Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)","Sensorineural hearing impairment, Myopathy, Abnormality of neutrophils, Palmoplantar keratoderma, Dilated cardiomyopathy, Lipoatrophy, Elevated serum creatine phosphokinase, EMG abnormality, Cardiac arrest, Left ventricular noncompaction, Autosomal dominant inheritance, Phenotypic variability, Endocardial fibroelastosis, Atrioventricular block, Left ventricular hypertrophy, Atrial fibrillation, Endocardial fibrosis, Supraventricular tachycardia","Cardiomyopathy dilated, Cardiomyopathy hypertrophic, Cardiomyopathy restrictive, Noncompaction left ventricular, Sudden unexplained death, Cardiomyopathy, Autism spectrum disorder, Cardiac abnormalities, Sudden infant death syndrome"]
["KIF26B","1q44",245319872,"rs545986853","G","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","KIF26B: NM_018012:exon2:c.G352T:p.G118C","---","---","Adenomatous polyposis coli, Congenital anomalies of the kidney and urinary tract, Spinocerebellar ataxia"]
["SCCPDH","1q44",246923305,".","T","C",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","SCCPDH: NM_016002:exon8:c.T860C:p.I287T","---","---","---"]
["OR2W5","1q44",247655279,"rs146381594","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","stopgain","OR2W5: NM_001004698:exon1:c.C850T:p.Q284X","---","---","---"]
["CUBN","10p13",17127755,"rs182512508","G","C",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","CUBN: NM_001081:exon16:c.C1951G:p.R651G","Megaloblastic anemia-1, Finnish type, 261100 (3)","Confusion, Dementia, Paresthesia, Autosomal recessive inheritance, Proteinuria, Megaloblastic anemia, Sensory impairment, Childhood onset, Malabsorption of Vitamin B12","Nephrotic syndrome steroid resistant, Albuminuria association with, Abnormality of metabolism/homeostasis, Proteinuria, High HDL cholesterol, Methylmalonic acidaemia, Glomerular kidney disease, Megaloblastic anaemia, Imerslund-Gr盲sbeck syndrome, Serum vitamin B12 levels association with"]
["SEC24C","10q22.2",75528586,"rs555997918","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","SEC24C: NM_198597:exon16:c.C2200T:p.R734W,SEC24C: NM_004922:exon17:c.C2200T:p.R734W","---","Anal atresia, Seizures, Intrauterine growth retardation, Micrognathia, Gastroesophageal reflux, Multiple suture craniosynostosis, Posterior embryotoxon, Intellectual disability, mild, Low-set ears, Varicose veins, Aganglionic megacolon, Bipolar affective disorder, Prominent nasal bridge, Seborrheic dermatitis, Cryptorchidism, Laryngomalacia, Scoliosis, Inguinal hernia, Telecanthus, Hypopigmented skin patches, Tricuspid atresia, Narrow mouth, Ventricular septal defect, Hypospadias, Specific learning disability, Abnormality of the tonsils, Short philtrum, Acne, Conductive hearing impairment, Multiple renal cysts, Impaired T cell function, Hypoplasia of the thymus, Strabismus, Corneal neovascularization, Constipation, Gastrointestinal hemorrhage, Global developmental delay, Long philtrum, Bulbous nose, Occipital myelomeningocele, Small earlobe, Foot polydactyly, Arrhinencephaly, Chronic obstructive pulmonary disease, Long face, Tetralogy of Fallot, Atelectasis, Ptosis, Hypocalcemia, Cholelithiasis, Atrial septal defect, Retinal arteriolar tortuosity, Upslanted palpebral fissure, Platybasia, Renal hypoplasia, Attention deficit hyperactivity disorder, Hypothyroidism, Immunodeficiency, Short neck, Nasal speech, Polycystic kidney dysplasia, Depressivity, Anxiety, Truncus arteriosus, Malar flattening, Hand polydactyly, Asthma, Microphthalmia, Abnormal lung lobation, Downslanted palpebral fissures, Autism, Talipes equinovarus, Arachnodactyly, Dysphasia, Vesicoureteral reflux, Hypertelorism, Polyhydramnios, Umbilical hernia, Splenomegaly, Failure to thrive, Short stature, Abnormality of the pharynx, Tetany, Abnormality of the thorax, Patent ductus arteriosus, Autoimmunity, Hyperthyroidism, Cataract, Hypertensive crisis, Obesity, Turricephaly, Muscular hypotonia, Epicanthus, Joint hyperflexibility, Abnormality of dental enamel, Optic atrophy, Myalgia, Hydrocephalus, Glaucoma, Arthritis, Feeding difficulties in infancy, Abnormal aortic arch morphology, Bowel incontinence, Choanal atresia, Schizophrenia, Hypoparathyroidism, Purpura, Abnormal aortic valve morphology, Patellar dislocation, Cleft palate, Abnormal pulmonary valve morphology, Overfolded helix, Thrombocytopenia, Abnormality of the uterus, Chronic otitis media, Wide nasal bridge, Intestinal malrotation, Carious teeth, Microcephaly","---"]
["ZNF518A","10q24.1",97919409,".","G","C",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","unknown","UNKNOWN","---","---","Increased adult height association with"]
["SLIT1","10q24.1",98762058,"rs201720704","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","SLIT1: NM_003061:exon36:c.C4223T:p.S1408L","---","---","Conotruncal heart defects with extracardiac anomalies"]
["LOXL4","10q24.2",100013416,"rs774923141","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","LOXL4: NM_032211:exon11:c.G1729A:p.G577R","---","---","Developmental disorder"]
["CALHM1","10q24.33",105217976,"rs145546138","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","CALHM1: NM_001001412:exon1:c.G533A:p.R178H","---","---","Alzheimer disease, Alzheimer disease increased risk association with"]
["ZDHHC6","10q25.2",114204967,".","C","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","ZDHHC6: NM_001303134:exon2:c.G228T:p.M76I,ZDHHC6: NM_001351082:exon2:c.G228T:p.M76I,ZDHHC6: NM_001351083:exon2:c.G228T:p.M76I,ZDHHC6: NM_001351084:exon2:c.G228T:p.M76I,ZDHHC6: NM_001351085:exon2:c.G8T:p.C3F,ZDHHC6: NM_001351086:exon2:c.G8T:p.C3F,ZDHHC6: NM_022494:exon2:c.G228T:p.M76I","---","---","---"]
["CHST15","10q26.13",125780752,"rs767286601","C","CG","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","frameshift insertion","CHST15: NM_001270765:exon6:c.1366dupC:p.R456fs,CHST15: NM_014863:exon6:c.1366dupC:p.R456fs","---","---","---"]
["CHST15","10q26.13",125780762,"rs752093499","G","GGGC","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonframeshift insertion","CHST15: NM_001270765:exon6:c.1356 1357insGCC:p.P453delinsAP,CHST15: NM_014863:exon6:c.1356 1357insGCC:p.P453delinsAP","---","---","---"]
["CHST15","10q26.13",125780762,"rs752093499","G","GGGGC",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","frameshift insertion","CHST15: NM_001270765:exon6:c.1356 1357insGCCC:p.P453fs,CHST15: NM_014863:exon6:c.1356 1357insGCCC:p.P453fs","---","---","---"]
["CTBP2","10q26.13",126714678,"rs530281431","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","CTBP2: NM_022802:exon1:c.G1651A:p.V551M","---","---","Hypoplastic left heart syndrome, Congenital diaphragmatic hernia, Pituitary stalk interruption syndrome, Congenital heart disease"]
["FOXI2","10q26.2",129535682,".","AG","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","frameshift deletion","FOXI2: NM_207426:exon1:c.146delG:p.S49fs","---","---","---"]
["DRD4","11p15.5",640099,".","A","ACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","frameshift insertion","DRD4: NM_000797:exon3:c.850 851insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG:p.S284fs","Autonomic nervous system dysfunction (3)|[Novelty seeking personality], 601696 (1)|{Attention deficit-hyperactivity disorder}, 143465 (3)","---","Attention-deficit hyperactivity disorder association with, Reduced transcriptional efficiency, Delusional disorder association with, Autonomic nervous system dysfunction, Reduced sensitivity to clozapine association with"]
["PANO1","11p15.5",798082,"rs201547522","C","CT",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","frameshift insertion","PANO1: NM_001293167:exon1:c.457 458insT:p.P153fs","---","---","---"]
["MUC2","11p15.5",1080953,"rs199865570","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","MUC2: NM_002457:exon10:c.C1337T:p.T446M","---","---","---"]
["MRGPRG","11p15.4",3239638,".","CCGGCAGGGT","C",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonframeshift deletion","MRGPRG: NM_001164377:exon1:c.397 405del:p.133 135del","---","---","---"]
["NLRP14","11p15.4",7071027,"rs186983128","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","NLRP14: NM_176822:exon6:c.G2249A:p.C750Y","---","---","Spermatogenic failure, Beh莽et disease"]
["WEE1","11p15.4",9610124,".","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","WEE1: NM_001143976:exon11:c.G1274A:p.R425H,WEE1: NM_003390:exon11:c.G1916A:p.R639H","---","---","Developmental disorder"]
["MICALCL","11p15.3",12316344,"rs767104379","G","GCTCCTC",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonframeshift insertion","MICALCL: NM_032867:exon3:c.1366 1367insCTCCTC:p.A456delinsAPP","---","---","Autism spectrum disorder, Autism"]
["PRG3","11q12.1",57144356,"rs115707133","G","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","stopgain","PRG3: NM_006093:exon6:c.C645A:p.C215X","---","---","---"]
["MACROD1","11q13.1",63919767,"rs772600678","TC","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","frameshift deletion","MACROD1: NM_014067:exon2:c.396delG:p.A132fs","---","---","---"]
["DNAJC4","11q13.1",63999414,".","C","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","DNAJC4: NM_001307980:exon2:c.C158G:p.A53G,DNAJC4: NM_001307981:exon2:c.C158G:p.A53G,DNAJC4: NM_005528:exon3:c.C158G:p.A53G","---","---","---"]
["PPP2R5B","11q13.1",64695897,"rs577391569","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","PPP2R5B: NM_006244:exon6:c.G722A:p.R241Q","---","---","Autism spectrum disorder, Overgrowth, Pituitary stalk interruption syndrome"]
["P2RY2","11q13.4",72946250,"rs375404183","TAGA","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonframeshift deletion","P2RY2: NM_002564:exon3:c.1047 1049del:p.349 350del,P2RY2: NM_176071:exon3:c.1047 1049del:p.349 350del,P2RY2: NM_176072:exon3:c.1047 1049del:p.349 350del","---","---","Schizophrenia, Sepsis modifier of"]
["ANKRD42","11q14.1",82938859,"rs765484686","T","TGG","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","frameshift insertion","ANKRD42: NM_001300972:exon7:c.858 859insGG:p.D286fs,ANKRD42: NM_001300973:exon7:c.855 856insGG:p.D285fs,ANKRD42: NM_001300975:exon7:c.858 859insGG:p.D286fs,ANKRD42: NM_182603:exon7:c.774 775insGG:p.D258fs","---","---","---"]
["CCDC90B","11q14.1",82976992,"rs781491369","C","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","CCDC90B: NM_001286120:exon6:c.G279T:p.E93D,CCDC90B: NM_001286118:exon7:c.G330T:p.E110D,CCDC90B: NM_001286116:exon8:c.G597T:p.E199D,CCDC90B: NM_001286117:exon8:c.G321T:p.E107D,CCDC90B: NM_001286119:exon8:c.G330T:p.E110D,CCDC90B: NM_021825:exon8:c.G624T:p.E208D","---","---","Autism"]
["SRSF8","11q21",94800727,"rs782497055","GGCTACGGACGGCGGAGCCGCA","G","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","unknown","UNKNOWN","---","---","---"]
["ENDOD1","11q21",94862480,"rs543832194","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ENDOD1: NM_015036:exon2:c.C1240T:p.R414W","---","---","---"]
["PGR","11q22.1",100998327,"rs753242711","C","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","PGR: NM_000926:exon1:c.G1475T:p.R492L,PGR: NM_001202474:exon1:c.G983T:p.R328L,PGR: NM_001271161:exon1:c.G983T:p.R328L","?Progesterone resistance, 264080 (2)","Autosomal recessive inheritance, Abnormality of metabolism/homeostasis, Female infertility","Insensitivity to mifepristone, Ovarian cancer risk association with, Endometrial cancer increased risk association"]
["MMP20","11q22.2",102479773,".","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","MMP20: NM_004771:exon5:c.C706T:p.H236Y","Amelogenesis imperfecta, type IIA2, 612529 (3)","Amelogenesis imperfecta, Autosomal recessive inheritance, Anterior open bite","Amelogenesis imperfecta, Pigmented hypomaturation amelogenesis imperfecta, Hypomaturation amelogenesis imperfecta, Amelogenesis imperfecta hypomineralized and hypoplastic"]
["MMP27","11q22.2",102565730,"rs772192264","TC","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","frameshift deletion","MMP27: NM_022122:exon7:c.1000delG:p.E334fs","---","---","---"]
["MMP1","11q22.2",102663380,"rs753853224","GC","G","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","frameshift deletion","MMP1: NM_001145938:exon7:c.790delG:p.A264fs,MMP1: NM_002421:exon7:c.988delG:p.A330fs","COPD, rate of decline of lung function in, 606963 (3)|{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)","Carious teeth, Absent toenail, Scarring alopecia of scalp, Esophageal stricture, Flexion contracture, Corneal erosion, Delayed puberty, Osteoporosis, Milia, Refractory anemia, Squamous cell carcinoma of the skin, Dermal atrophy, Progressive visual loss, Narrow mouth, Blepharitis, Absent fingernail, Abnormality of the anus, Dysphagia, Dilated cardiomyopathy, Mitten deformity, Hypoalbuminemia, Abnormal blistering of the skin, Ankyloglossia, Osteopenia, Pruritus, Ectropion, Constipation, Loss of eyelashes, Chronic obstructive pulmonary disease","Pulmonary fibrosis idiopathic, Aortic dissection acute, Bronchopulmonary dysplasia in preterm newborns, Breast cancer, Thoracic aortic aneurysm smaller diameter, Lower body mass index association with, Preterm premature rupture of membranes protection association"]
["DYNC2H1","11q22.3",103128425,"rs188113889","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","DYNC2H1: NM_001377:exon69:c.G10550A:p.R3517H,DYNC2H1: NM_001080463:exon70:c.G10571A:p.R3524H","Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)","Cryptorchidism, Ambiguous genitalia, Agenesis of corpus callosum, Preaxial hand polydactyly, Pulmonary hypoplasia, Abdominal distention, Esophageal atresia, Dandy-Walker malformation, Short foot, Disproportionate short-limb short stature, Macrocephaly, Cerebellar hypoplasia, Narrow chest, Postaxial hand polydactyly, Micromelia, Short ribs, Uterus didelphys, Absent or minimally ossified vertebral bodies, Epicanthus, Omphalocele, Renal hypoplasia, Anal atresia, Congenital hepatic fibrosis, Depressed nasal bridge, Frontal bossing, Urethrovaginal fistula, Hypoplasia of penis, Ectopic anus, Short palm, Renal cyst, Wide nose, Bifid tongue, Long philtrum, Facial cleft, Hydronephrosis, Cleft upper lip, Respiratory insufficiency, Abnormal pelvis bone ossification, Lethal skeletal dysplasia, Micrognathia, Cataract, Bifid epiglottis, Hydrops fetalis, Abnormality of cardiovascular system morphology, Short thorax, Abnormality of the metaphysis, Abnormality of the clavicle, Abnormality of the ribs, Nephronophthisis, Abnormality of pelvic girdle bone morphology, Postaxial foot polydactyly, Cone-shaped epiphysis, Nephropathy, Renal insufficiency, Abnormality of the liver, Toe syndactyly, Skeletal dysplasia, Feeding difficulties in infancy, Abnormality of retinal pigmentation, Short stature, Aplasia/Hypoplasia of the lungs, Abnormality of the sternum, Brachydactyly","Short rib-polydactyly syndrome type 3, Asphyxiating thoracic dystrophy, Short rib-polydactyly syndrome, Short rib-polydactyly syndrome Majewski type, Jeune asphyxiating thoracic dystrophy, Short-rib thoracic dysplasia type 3, Asphyxiating thoracic dystrophy 3, Short-rib thoracic dysplasia, Multiple congenital anomalies, Jeune syndrome, Heterotaxy with neurodevelopmental disorder, Pregnancy loss recurrent early, Short rib-polydactyly syndrome type 1, Fetal abnormalities, Short rib-polydactyly syndrome type 2"]
["FDXACB1","11q23.1",111746040,"rs201937600","A","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","FDXACB1: NM_138378:exon5:c.T1481C:p.L494S","---","---","---"]
["ANKK1","11q23.2",113269787,"rs56339158","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","ANKK1: NM_178510:exon8:c.C1096T:p.L366F","Dopamine receptor D2, reduced brain density of (3)","---","Nicotine dependence risk association with, Nicotine dependence association with, Autism spectrum disorder, Reduced DRD2 receptor density"]
["SLC37A4","11q23.3",118896705,"rs782703235","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","SLC37A4: NM_001164280:exon7:c.G956A:p.R319Q,SLC37A4: NM_001467:exon8:c.G956A:p.R319Q,SLC37A4: NM_001164277:exon9:c.G956A:p.R319Q,SLC37A4: NM_001164278:exon9:c.G956A:p.R319Q,SLC37A4: NM_001164279:exon9:c.G737A:p.R246Q","Glycogen storage disease Ib, 232220 (3)|Glycogen storage disease Ic, 232240 (3)","Nephrolithiasis, Pancreatitis, Hypoglycemia, Hypertension, Recurrent bacterial infections, Gout, Osteoporosis, Focal segmental glomerulosclerosis, Proteinuria, Lipemia retinalis, Xanthelasma, Hepatocellular carcinoma, Hyperlipidemia, Delayed puberty, Autosomal recessive inheritance, Oral ulcer, Enlarged kidney, Short stature, Decreased glomerular filtration rate, Lactic acidosis, Protuberant abdomen, Elevated hepatic transaminases, Hepatomegaly, Doll-like facies, Neutropenia, Spider hemangioma, Ketosis, Chronic pancreatitis, Pulmonary arterial hypertension, Renal insufficiency, Metabolic acidosis, Hematuria, Hepatoblastoma","Glycogen storage disease 1a, Glycogen storage disease 1b, Glycogen storage disease 1 non-a, Glycogen storage disease 1c, Glycogen storage disease 1d, Primary immunodeficiency disease, Altered splicing, Bone marrow failure, Sudden infant death syndrome association with"]
["C1QTNF5","11q23.3",119210046,".","C","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","C1QTNF5: NM_001278431:exon3:c.G727T:p.A243S,C1QTNF5: NM_015645:exon15:c.G727T:p.A243S","Retinal degeneration, late-onset, autosomal dominant, 605670 (3)","Adult-onset night blindness, Scotoma, Rod-cone dystrophy, Visual loss, Autosomal dominant inheritance, Retinal degeneration","Increased BMI association with, Retinal degeneration late-onset, Retinitis pigmentosa, Retinal dystrophy"]
["OR8G5","11q24.2",124134993,"rs141886948","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","OR8G5: NM_001005198:exon1:c.C271T:p.H91Y","---","---","---"]
["ESAM","11q24.2",124626575,"rs369271235","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","ESAM: NM_138961:exon3:c.C313T:p.P105S","---","---","Schizophrenia"]
["ADAMTS15","11q24.3",130319265,"rs185269810","G","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","ADAMTS15: NM_139055:exon1:c.G397C:p.E133Q","---","---","Schizophrenia"]
["PEX5","12p13.31",7343108,"rs757612863","GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA","G","PASS","Homozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"exonic",".","nonframeshift deletion","PEX5: NM_000319:exon1:c.136 147del:p.46 49del,PEX5: NM_001131023:exon2:c.136 180del:p.46 60del,PEX5: NM_001131024:exon2:c.136 147del:p.46 49del,PEX5: NM_001131025:exon2:c.136 147del:p.46 49del,PEX5: NM_001300789:exon2:c.199 210del:p.67 70del,PEX5: NM_001351124:exon2:c.136 147del:p.46 49del,PEX5: NM_001351126:exon2:c.136 147del:p.46 49del,PEX5: NM_001351128:exon2:c.136 147del:p.46 49del,PEX5: NM_001351130:exon2:c.136 147del:p.46 49del,PEX5: NM_001351131:exon2:c.136 147del:p.46 49del,PEX5: NM_001351132:exon2:c.136 147del:p.46 49del,PEX5: NM_001351134:exon2:c.136 147del:p.46 49del,PEX5: NM_001351135:exon2:c.199 243del:p.67 81del,PEX5: NM_001351136:exon2:c.136 147del:p.46 49del,PEX5: NM_001351137:exon2:c.199 210del:p.67 70del,PEX5: NM_001351138:exon2:c.136 180del:p.46 60del,PEX5: NM_001351139:exon2:c.136 147del:p.46 49del,PEX5: NM_001131026:exon3:c.136 147del:p.46 49del,PEX5: NM_001351127:exon3:c.136 147del:p.46 49del,PEX5: NM_001351133:exon3:c.136 147del:p.46 49del,PEX5: NM_001351140:exon3:c.136 147del:p.46 49del","Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)|Peroxisome biogenesis disorder 2B, 202370 (3)|Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)","High, narrow palate, Epicanthus, Polar cataract, Esotropia, Wide nasal bridge, Intellectual disability, Adrenal insufficiency, Low-set ears, Seizures, Elevated long chain fatty acids, Abnormal facial shape, Anteverted nares, Autosomal recessive inheritance, Dolichocephaly, Frontal bossing, Strabismus, Optic atrophy, Visual impairment, Ptosis, Sensorineural hearing impairment, Nystagmus, High forehead, Abnormality of the palate, Wide anterior fontanel, Muscular hypotonia, EEG abnormality, Abnormality of movement, Developmental regression, Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hyperreflexia, Abnormality of the liver, Severe global developmental delay, Bilateral single transverse palmar creases, Abnormality of neuronal migration, Abnormality of metabolism/homeostasis, Cataract, Macrocephaly, Short stature, Primary adrenal insufficiency, Thoracic scoliosis, Global developmental delay, Sinus tachycardia, Generalized amyotrophy, Peripheral neuropathy, Short femoral neck, Muscle weakness, Broad-based gait, Talipes equinovarus, Decreased body weight, Microcephaly, Pes cavus, Metaphyseal cupping, Hyporeflexia, Congenital cataract, Intellectual disability, severe, Metaphyseal irregularity, Asthma, Coxa vara, Vertical nystagmus, Upslanted palpebral fissure, Abnormal heart morphology, Aminoaciduria, Cleft palate, Abnormality of the helix, Cubitus valgus, Opacification of the corneal stroma, Clitoral hypertrophy, Hypertelorism, Brushfield spots, Intrahepatic biliary dysgenesis, Poor suck, Optic nerve dysplasia, Generalized hypotonia, Hypoplasia of the thymus, Apnea, Pigmentary retinopathy, Single transverse palmar crease, Intrauterine growth retardation, Areflexia, Camptodactyly, Hepatomegaly, Failure to thrive, Death in childhood, Turricephaly, Large fontanelles, Abnormality of the mitochondrion, Polycystic kidney dysplasia, Jaundice, Cryptorchidism, Metatarsus adductus, Stippled chondral calcification, Palpebral edema, Joint contracture of the hand, Multicystic kidney dysplasia, Glaucoma, Cognitive impairment, Pyloric stenosis, External ear malformation, Abnormality of the tongue, Thickened nuchal skin fold, Skeletal dysplasia, Hypospadias, Flat occiput, Respiratory insufficiency, Polymicrogyria, Abnormal chorioretinal morphology, Reduced tendon reflexes, Corneal opacity, Premature birth, Ventricular septal defect, Very long chain fatty acid accumulation, Profound global developmental delay, Death in infancy, Feeding difficulties in infancy, Underdeveloped supraorbital ridges, Abnormality of coagulation, Flat face, Hydronephrosis, Severe muscular hypotonia, Hepatic failure, Depressed nasal bridge, Micrognathia, Posterior embryotoxon, Malabsorption, High palate, Epiphyseal stippling, Ichthyosis, Rod-cone dystrophy, Constriction of peripheral visual field, Elevated levels of phytanic acid, Facial palsy, Behavioral abnormality, Cardiomyopathy, Arrhythmia, Nyctalopia, Spasticity, Ataxia, Abnormality of epiphysis morphology, Progressive muscle weakness","Rhizomelic chondrodysplasia punctata type 5, Peroxisome biogenesis disorder, Adrenoleukodystrophy, Refsum disease infantile, Deafness developmental regression and leukoencephalopathy"]
["ACSM4","12p13.31",7457072,"rs150140900","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","ACSM4: NM_001080454:exon1:c.C145T:p.P49S","---","---","---"]
["KLRF2","12p13.31",10034223,"rs370134048","TGA","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","frameshift deletion","KLRF2: NM_001190765:exon1:c.30 31del:p.L10fs","---","---","---"]
["YBX3","12p13.2",10862581,"rs75023229","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","YBX3: NM_003651:exon6:c.C706T:p.R236W","---","---","---"]
["TAS2R10","12p13.2",10978607,"rs117936881","A","G","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","TAS2R10: NM_023921:exon1:c.T262C:p.W88R","---","---","Autism spectrum disorder"]
["TAS2R46","12p13.2",11214631,"rs770425892","CAGA","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonframeshift deletion","TAS2R46: NM_176887:exon1:c.260 262del:p.87 88del","---","---","Bitter taste sensitivity association with"]
["TAS2R46","12p13.2",11214634,"rs774022236","A","ACC","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","frameshift insertion","TAS2R46: NM_176887:exon1:c.259 260insGG:p.V87fs","---","---","Bitter taste sensitivity association with"]
["SLCO1B3","12p12.2",21015406,"rs180875376","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","SLCO1B3: NM_001349920:exon5:c.G458A:p.R153H,SLCO1B3: NM_019844:exon7:c.G542A:p.R181H","Hyperbilirubinemia, Rotor type, digenic, 237450 (3)","Jaundice, Autosomal recessive inheritance, Conjugated hyperbilirubinemia, Abnormality of skin pigmentation, Abnormality of the skeletal system, Fever, Abnormality of the gastric mucosa, Abdominal pain","Autism spectrum disorder, Decreased protein expression, Altered substrate specificity, Rotor syndrome"]
["OVCH1","12p11.22",29648291,"rs190382460","A","C","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","OVCH1: NM_183378:exon4:c.T381G:p.H127Q","---","---","---"]
["BICD1","12p11.21",32481287,".","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","BICD1: NM_001003398:exon5:c.G1898A:p.R633Q,BICD1: NM_001714:exon5:c.G1898A:p.R633Q","---","---","Shorter telomere length association with"]
["MUC19","12q12",40880558,"rs2933361","A","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","unknown","UNKNOWN","---","---","---"]
["MUC19","12q12",40884241,".","A","AAGGGACAACTGGACCATCAGCTGCTGTGACTGGGTCAGCTGGACTATCAGCTGGGGTGAC",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","unknown","UNKNOWN","---","---","---"]
["MUC19","12q12",40935445,"rs756117152","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","unknown","UNKNOWN","---","---","---"]
["PUS7L","12q12",44148199,"rs781582399","C","CT","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","frameshift insertion","PUS7L: NM_001098614:exon2:c.849dupA:p.A284fs,PUS7L: NM_001098615:exon2:c.849dupA:p.A284fs,PUS7L: NM_031292:exon2:c.849dupA:p.A284fs","---","---","---"]
["DDN","12q13.12",49392360,".","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","DDN: NM_015086:exon2:c.G299A:p.G100E","---","---","---"]
["FAIM2","12q13.12",50283307,"rs80246888","G","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","FAIM2: NM_012306:exon9:c.C608G:p.A203G","---","---","---"]
["POU6F1","12q13.13",51590593,"rs77905600","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","POU6F1: NM_001330422:exon7:c.G964A:p.A322T","---","---","---"]
["CELA1","12q13.13",51735071,"rs367740383","AG","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","frameshift deletion","CELA1: NM_001971:exon5:c.419delC:p.A140fs","---","---","Punctate palmoplantar keratoderma, Balkan endemic nephropathy"]
["KRT83","12q13.13",52714915,"rs776341669","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","KRT83: NM_002282:exon1:c.G205A:p.G69S","Erythrokeratodermia variabilis et progressiva 5, 617756 (3)|Monilethrix, 158000 (3)","Patchy alopecia, Slow-growing hair, Schizophrenia, Fine hair, Cataract, Follicular hyperkeratosis, Cognitive impairment, Abnormality of the nail, Abnormality of the dentition, Abnormal eyebrow morphology, Hypotrichosis, Intellectual disability, Brittle hair, Abnormality of the eyelashes, Skin plaque, Erythema, Palmoplantar keratoderma, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Variable expressivity, Nail dysplasia, Perifollicular hyperkeratosis, Alopecia, Heterogeneous, Infantile onset, Nail dystrophy","Monilethrix, Erythrokeratoderma progressive symmetric, Autism spectrum disorder"]
["GPR84","12q13.13",54756528,"rs77759698","A","G","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","GPR84: NM_020370:exon2:c.T1108C:p.Y370H","---","---","---"]
["LRP1","12q13.3",57591365,"rs375098933","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","LRP1: NM_002332:exon58:c.G9200A:p.R3067Q","?Keratosis pilaris atrophicans, 604093 (3)","Autosomal recessive inheritance","Increased expression, Multiple autoimmune syndrome, Abdominal aortic aneurysm increased risk, Alzheimer's disease association with, Venous thromboembolism increased risk, Conotruncal heart defects with neurodevelopmental disorder, Increased plasma F8 levels, Schizophrenia, Aortic aneurysm, Coronary artery disease increased risk, Keratosis pilaris atrophicans, Autism spectrum disorder, Left ventricular obstruction, Deafness, Conotruncal heart defects with extracardiac anomalies, Congenital heart disease, Low HDL cholesterol, Intellectual disability, Autism"]
["CNOT2","12q15",70747693,"rs751341232","T","TAA",".",".","PASS","Homozygotes",".",".",1,"exonic",".","frameshift insertion","CNOT2: NM_001199303:exon16:c.1621 1622insAA:p.X541delinsX,CNOT2: NM_014515:exon16:c.1621 1622insAA:p.X541delinsX,CNOT2: NM_001199302:exon17:c.1621 1622insAA:p.X541delinsX","---","---","Intellectual disability/developmental delay"]
["EEA1","12q22",93171826,"rs77729665","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","EEA1: NM_003566:exon26:c.C3784T:p.R1262W","---","---","Diabetes type 2 susceptibility to, Heterotaxy with extracardiac anomalies"]
["POLR3B","12q23.3",106786858,"rs117911920","A","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","POLR3B: NM_001160708:exon10:c.A599C:p.E200A,POLR3B: NM_018082:exon10:c.A773C:p.E258A","Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)","Hypodontia, CNS hypomyelination, Ataxia, Hypergonadotropic hypogonadism, Hypogonadotrophic hypogonadism, Micropenis, Autosomal recessive inheritance, Primary amenorrhea, Sparse axillary hair, Cryptorchidism, Gynecomastia, Infertility, Sparse pubic hair, Autosomal dominant inheritance, Decreased testicular size, Short stature, Dystonia, Peripheral neuropathy, Cerebral cortical atrophy, Drooling, Dysarthria, Leukodystrophy, Phenotypic variability, Oligodontia, Abnormal upper motor neuron morphology, Postural tremor, Progressive, Global developmental delay, Myopia, Optic atrophy, Dysmetria, Hypoplasia of the corpus callosum, Nystagmus, Spasticity, Delayed puberty, Babinski sign, Hyperreflexia, Cerebellar atrophy, Dysphagia, Intellectual disability, mild, Delayed eruption of teeth, Horizontal nystagmus, Intention tremor, Impaired horizontal smooth pursuit, Cerebral hypomyelination, Dysdiadochokinesis","Hypomyelination hypodontia & hypogonadotropic hypogonadism, Cerebellar hypoplasia with endosteal sclerosis, Hypomyelinating leukodystrophy, Intellectual disability, Hypomyelinating leukodystrophy 8, Hypogonadotropic hypogonadism idiopathic, Cerebellar ataxia, Hypomyelination cerebellar atrophy & corpus callosum hypoplasia, Cerebellar atrophy childhood-onset"]
["MTERF2","12q23.3",107372266,"rs751834649","T","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","MTERF2: NM_001033050:exon3:c.A227G:p.Y76C,MTERF2: NM_025198:exon3:c.A227G:p.Y76C","---","---","---"]
["NOS1","12q24.22",117715866,"rs757502839","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","NOS1: NM_001204213:exon8:c.G554A:p.R185H,NOS1: NM_001204214:exon8:c.G554A:p.R185H,NOS1: NM_000620:exon9:c.G1562A:p.R521H,NOS1: NM_001204218:exon9:c.G1562A:p.R521H","Spermatogenic failure 12, 615413 (3)","Achalasia","Schizophrenia association with, Colorectal cancer, Congenital heart disease, Achalasia infantile, Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism normosmic, Bicuspid aortic valve, 1q21.1 microduplication syndrome modifier"]
["GCN1","12q24.23",120575778,"rs201734893","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","GCN1: NM_006836:exon48:c.G6320A:p.R2107H","---","---","Colorectal cancer, Intellectual disability, Autism spectrum disorder"]
["TMEM132C","12q24.32",128899411,"rs565112858","A","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","TMEM132C: NM_001136103:exon2:c.A220C:p.N74H","---","---","---"]
["SGCG","13q12.12",23808789,"rs148404730","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","SGCG: NM_000231:exon3:c.C235T:p.R79C","Muscular dystrophy, limb-girdle, type 2C, 253700 (3)","Elevated serum creatine phosphokinase, Gowers sign, Muscular dystrophy, Skeletal muscle atrophy, Autosomal recessive inheritance, Muscle fiber necrosis, Scoliosis, Right ventricular dilatation, Rapidly progressive, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular hypertrophy, Restrictive ventilatory defect, Hyperlordosis, Pneumonia","Muscular dystrophy limb girdle, Muscular dystrophy limb girdle 2C, Cardiovascular malformations, Cardiomyopathy and reduced dystrophin expression, Muscular dystrophy, Muscular dystrophy limb girdle 2D"]
["RNASEH2B","13q14.3",51530530,"rs144408326","G","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","RNASEH2B: NM_024570:exon11:c.G859T:p.A287S","Aicardi-Goutieres syndrome 2, 610181 (3)","Autosomal recessive inheritance, Encephalopathy, Basal ganglia calcification, Spastic paraplegia, Cerebral atrophy, Chronic CSF lymphocytosis, Variable expressivity, Microcephaly, Dystonia, Plagiocephaly, Arrhinencephaly, Intellectual disability, profound, Spasticity, Seizures, Ptosis, Eyelid coloboma, Porencephalic cyst, Hemiplegia/hemiparesis","Aicardi-Gouti猫res syndrome, Abnormality of the nervous system, Neurological disease, Glioma and prostate cancer risk"]
["NEK5","13q14.3",52682502,"rs747319587","T","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","NEK5: NM_199289:exon8:c.A506G:p.Y169C","---","---","---"]
["PCDH9","13q21.32",67801543,"rs759738050","C","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","PCDH9: NM_001318372:exon2:c.G1030T:p.V344F,PCDH9: NM_001318373:exon2:c.G1030T:p.V344F,PCDH9: NM_001318374:exon2:c.G1030T:p.V344F,PCDH9: NM_020403:exon2:c.G1030T:p.V344F,PCDH9: NM_203487:exon2:c.G1030T:p.V344F","---","---","---"]
["DIS3","13q22.1",73337738,"rs562301195","T","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","DIS3: NM_001322348:exon15:c.A1609G:p.N537D,DIS3: NM_001128226:exon16:c.A1888G:p.N630D,DIS3: NM_014953:exon16:c.A1978G:p.N660D,DIS3: NM_001322349:exon17:c.A1492G:p.N498D","---","---","---"]
["FARP1","13q32.2",99076833,"rs148334149","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","FARP1: NM_001286839:exon17:c.C1834T:p.R612C,FARP1: NM_005766:exon17:c.C1834T:p.R612C","---","---","Autism spectrum disorder"]
["PROZ","13q34",113818913,".","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","stopgain","PROZ: NM_003891:exon5:c.C460T:p.Q154X,PROZ: NM_001256134:exon6:c.C526T:p.Q176X","[Protein Z deficiency], 614024 (3)","---","Reduced Protein Z concentration, Deep vein thrombosis, Protein Z deficiency, Thrombosis, Cerebral ischaemia protection against association"]
["ADPRHL1","13q34",114079408,"rs530445616","CT","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","frameshift deletion","ADPRHL1: NM_138430:exon5:c.732delA:p.K244fs,ADPRHL1: NM_199162:exon5:c.486delA:p.K162fs","---","---","---"]
["OR6S1","14q11.2",21109304,"rs148281603","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","OR6S1: NM_001001968:exon1:c.G547A:p.D183N","---","---","---"]
["NDRG2","14q11.2",21490606,"rs76643306","G","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","NDRG2: NM_001282216:exon3:c.C5A:p.A2E","---","---","---"]
["OR4E1","14q11.2",22138566,".","G","GCC","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","frameshift insertion","OR4E1: NM_001317107:exon1:c.584 585insGG:p.D195fs","---","---","---"]
["OR4E1","14q11.2",22139069,"rs72686098","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","OR4E1: NM_001317107:exon1:c.C82T:p.R28W","---","---","---"]
["SSTR1","14q21.1",38679763,"rs375891291","C","CGCTCTGAGCCCGGGCCACGCAGGG","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","stopgain","SSTR1: NM_001049:exon3:c.1169 1170insGCTCTGAGCCCGGGCCACGCAGGG:p.T390delinsTLX","---","---","---"]
["CNIH1","14q22.2",54908006,".","G","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","CNIH1: NM_005776:exon1:c.C40G:p.L14V","---","---","---"]
["CHURC1-FNTB;FNTB","14q23.3",65494257,"rs570650527","A","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","FNTB: NM_002028:exon5:c.A461T:p.Y154F,CHURC1-FNTB: NM_001202558:exon6:c.A323T:p.Y108F,CHURC1-FNTB: NM_001202559:exon7:c.A644T:p.Y215F",".",".","."]
["SIPA1L1","14q24.2",72152099,"rs141106111","G","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","SIPA1L1: NM_001284247:exon9:c.G3125T:p.R1042L,SIPA1L1: NM_001284245:exon10:c.G3125T:p.R1042L,SIPA1L1: NM_001284246:exon10:c.G3125T:p.R1042L,SIPA1L1: NM_015556:exon10:c.G3125T:p.R1042L","---","---","Autism spectrum disorder, Congenital heart disease"]
["ATXN3","14q32.12",92537354,".","C","CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","frameshift insertion","ATXN3: NM_001164782:exon2:c.67 68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23fs,ATXN3: NM_001164774:exon3:c.232 233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G78fs,ATXN3: NM_001164777:exon3:c.112 113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G38fs,ATXN3: NM_001164776:exon4:c.277 278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G93fs,ATXN3: NM_001164778:exon6:c.430 431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G144fs,ATXN3: NM_001164779:exon6:c.552 553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G185fs,ATXN3: NM_001164780:exon7:c.378 379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G127fs,ATXN3: NM_001127697:exon8:c.762 763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G255fs,ATXN3: NM_001164781:exon8:c.705 706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G236fs,ATXN3: NM_001127696:exon9:c.870 871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G291fs,ATXN3: NM_030660:exon9:c.750 751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G251fs,ATXN3: NM_004993:exon10:c.915 916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G306fs","Machado-Joseph disease, 109150 (3)","Urinary bladder sphincter dysfunction, Truncal ataxia, Ptosis, Parkinsonism, External ophthalmoplegia, Fasciculations, Dementia, Absent Achilles reflex, Autosomal dominant inheritance, Impaired vibratory sensation, Postural instability, Babinski sign, Abnormal electrooculogram, Dysphagia, Dilated fourth ventricle, Progressive, Spinocerebellar tract degeneration, Facial-lingual fasciculations, Diplopia, Dystonia, Genetic anticipation, Gaze-evoked nystagmus, Chronic pain, Supranuclear ophthalmoplegia, Distal amyotrophy, Dysmetric saccades, Rigidity, Gliosis, Progressive cerebellar ataxia, Proptosis, Dysarthria, Muscle cramps, Bradykinesia, Ataxia, Spasticity, Dysautonomia, Cerebellar atrophy, Impaired horizontal smooth pursuit, Limb ataxia","---"]
["ATXN3","14q32.12",92537354,"rs763541221","C","CCTGCTGCTGCTGCTGCTGCTGCTGCTG",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonframeshift insertion","ATXN3: NM_001164782:exon2:c.67 68insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G23delinsAAAAAAAAAG,ATXN3: NM_001164774:exon3:c.232 233insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G78delinsAAAAAAAAAG,ATXN3: NM_001164777:exon3:c.112 113insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G38delinsAAAAAAAAAG,ATXN3: NM_001164776:exon4:c.277 278insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G93delinsAAAAAAAAAG,ATXN3: NM_001164778:exon6:c.430 431insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G144delinsAAAAAAAAAG,ATXN3: NM_001164779:exon6:c.552 553insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G185delinsQQQQQQQQQG,ATXN3: NM_001164780:exon7:c.378 379insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G127delinsQQQQQQQQQG,ATXN3: NM_001127697:exon8:c.762 763insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G255delinsQQQQQQQQQG,ATXN3: NM_001164781:exon8:c.705 706insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G236delinsQQQQQQQQQG,ATXN3: NM_001127696:exon9:c.870 871insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G291delinsQQQQQQQQQG,ATXN3: NM_030660:exon9:c.750 751insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G251delinsQQQQQQQQQG,ATXN3: NM_004993:exon10:c.915 916insCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.G306delinsQQQQQQQQQG","Machado-Joseph disease, 109150 (3)","Urinary bladder sphincter dysfunction, Truncal ataxia, Ptosis, Parkinsonism, External ophthalmoplegia, Fasciculations, Dementia, Absent Achilles reflex, Autosomal dominant inheritance, Impaired vibratory sensation, Postural instability, Babinski sign, Abnormal electrooculogram, Dysphagia, Dilated fourth ventricle, Progressive, Spinocerebellar tract degeneration, Facial-lingual fasciculations, Diplopia, Dystonia, Genetic anticipation, Gaze-evoked nystagmus, Chronic pain, Supranuclear ophthalmoplegia, Distal amyotrophy, Dysmetric saccades, Rigidity, Gliosis, Progressive cerebellar ataxia, Proptosis, Dysarthria, Muscle cramps, Bradykinesia, Ataxia, Spasticity, Dysautonomia, Cerebellar atrophy, Impaired horizontal smooth pursuit, Limb ataxia","---"]
["AK7","14q32.2",96922766,"rs114521420","A","G","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","AK7: NM_001350891:exon10:c.A1103G:p.H368R,AK7: NM_001350888:exon11:c.A1181G:p.H394R,AK7: NM_001350890:exon11:c.A1181G:p.H394R,AK7: NM_001350892:exon11:c.A1181G:p.H394R,AK7: NM_152327:exon11:c.A1181G:p.H394R","---","---","Primary ciliary dyskinesia, Multiple morphological abnormalities of the sperm flagella"]
["CYFIP1","15q11.2",22892262,"rs28364571","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","CYFIP1: NM_001324119:exon1:c.G86A:p.R29Q","---","---","Schizophrenia, Autism spectrum disorder reduced risk"]
["TRPM1","15q13.3",31341666,"rs148802607","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","TRPM1: NM_001252020:exon12:c.G1535A:p.R512H,TRPM1: NM_002420:exon12:c.G1418A:p.R473H,TRPM1: NM_001252024:exon13:c.G1484A:p.R495H","Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)","Reduced visual acuity, Eczema, Dry skin, Myopia, Nystagmus, Abnormal electroretinogram, Congenital stationary night blindness, High myopia, Optic disc hypoplasia, Nyctalopia, Strabismus, Abnormality of macular pigmentation","Night blindness, Stationary night blindness congenital, Retinitis pigmentosa pericentral, High myopia early-onset, Schizophrenia, High myopia early-onset (eoHM), Multiple congenital anomalies, Autism spectrum disorder, Stationary night blindness autosomal dominant congenital, Leber congenital amaurosis, Retinal disease, Cone rod dystrophy, Retinal dystrophy"]
["LOC283710","15q13.3",31521505,"rs768093041","CGG","CG","PASS","trialleles",".",".",".",".",1,"exonic",".","frameshift deletion","LOC283710: NM_001243538:exon2:c.75delC:p.P25fs",".",".","."]
["RYR3","15q14",33833085,"rs780586791","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","RYR3: NM_001036:exon7:c.G640A:p.E214K,RYR3: NM_001243996:exon7:c.G640A:p.E214K","---","---","Gender dysphoria, Conotruncal heart defects & Neurodevelopmental disorder, Carotid intima-media thicknesses in HIV association with, Hyperinsulinism, Autism spectrum disorder, Nemaline myopathy, Schizophrenia, Congenital heart disease, Lennox-Gastaut syndrome, Colorectal cancer, Epileptic encephalopathy, Breast cancer increased risk association with"]
["SLC12A6","15q14",34532873,".","C","G",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","SLC12A6: NM_001042497:exon17:c.G2380C:p.A794P,SLC12A6: NM_005135:exon18:c.G2272C:p.A758P,SLC12A6: NM_133647:exon18:c.G2425C:p.A809P,SLC12A6: NM_001042494:exon19:c.G2248C:p.A750P,SLC12A6: NM_001042495:exon19:c.G2248C:p.A750P,SLC12A6: NM_001042496:exon19:c.G2398C:p.A800P","Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)","Intellectual disability, Agenesis of corpus callosum, Abnormality of retinal pigmentation, Craniosynostosis, Hemiplegia/hemiparesis, Aqueductal stenosis, Nystagmus, Seizures, Microcephaly, Global developmental delay, Turricephaly, Strabismus, Myopia, EEG abnormality, Psychosis, Scoliosis, Polyneuropathy, Ptosis, Neonatal hypotonia, Ventriculomegaly, Autosomal recessive inheritance, High palate, Facial asymmetry, Decreased sensory nerve conduction velocity, Axonal degeneration/regeneration, Sensory neuropathy, Limb tremor, Tapered finger, Progressive, Facial diplegia, EMG: chronic denervation signs, Hypertelorism, Hypoplasia of the maxilla, Onion bulb formation, Motor delay, Limb muscle weakness, Narrow forehead, Macrotia, Low anterior hairline, Motor polyneuropathy, Skeletal muscle atrophy, Increased CSF protein, Flexion contracture, Peripheral axonal neuropathy, Generalized hypotonia, Areflexia, Short nose, Wide nasal bridge, Decreased motor nerve conduction velocity, Respiratory tract infection, Long face, Brachycephaly, Restrictive deficit on pulmonary function testing, 2-3 toe syndactyly","Motor & sensory neuropathy and corpus callosum agenesis, Peripheral neuropathy and corpus callosum agenesis, Peripheral neuropathy, Pituitary stalk interruption syndrome, Andermann syndrome, Bipolar disorder association with"]
["NUTM1","15q14",34640476,".","T","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","NUTM1: NM_001284293:exon2:c.T377A:p.I126N,NUTM1: NM_001284292:exon3:c.T407A:p.I136N,NUTM1: NM_175741:exon3:c.T323A:p.I108N","---","---","Autism spectrum disorder"]
["CAPN3","15q15.1",42681224,".","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","CAPN3: NM_000070:exon5:c.C731T:p.A244V,CAPN3: NM_024344:exon5:c.C731T:p.A244V,CAPN3: NM_173087:exon5:c.C731T:p.A244V","Muscular dystrophy, limb-girdle, type 2A, 253600 (3)","Muscular dystrophy, Difficulty walking, Scapular winging, Flexion contracture, Proximal amyotrophy, Elevated serum creatine phosphokinase, Eosinophilia, Clumsiness, Facial palsy, Autosomal recessive inheritance","Muscular dystrophy limb girdle 2A, Dysferlinopathy, Muscular dystrophy limb girdle, Muscular dystrophy & congenital myopathy, Abnormality of the musculature, Muscular dystrophy limb-girdle, Proximal muscle weakness calf hypertrophy and lordosis, Calpainopathy, Myopathy distal, HyperCKemia, Muscular dystrophy, Miyoshi myopathy, Proximal muscle weakness, Rhabdomyolysis & muscular dystrophy, Myopathy/Muscular dystrophy, Proximal muscle weakness lordosis and winged scapulae, Myopathy with lobulated muscle fibres, Idiopathic eosinophilic myositis"]
["DUOX1","15q21.1",45456025,"rs186783799","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","DUOX1: NM_175940:exon33:c.G4442A:p.R1481Q,DUOX1: NM_017434:exon34:c.G4442A:p.R1481Q","---","---","Hypothyroidism congenital, Hypothyroidism, Intellectual disability autosomal recessive"]
["MINDY2","15q22.1",59146744,".","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","MINDY2: NM_001040450:exon9:c.C1801T:p.R601W,MINDY2: NM_001040453:exon9:c.C1798T:p.R600W",".",".","."]
["FOXB1","15q22.2",60297656,"rs185361903","G","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","FOXB1: NM_012182:exon2:c.G494T:p.G165V","---","---","---"]
["SCAMP2","15q24.1",75146366,"rs79613336","G","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","SCAMP2: NM_001320778:exon3:c.C221A:p.P74H,SCAMP2: NM_005697:exon3:c.C221A:p.P74H","---","---","Autism spectrum disorder"]
["MORF4L1","15q25.1",79178500,"rs756373390","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","MORF4L1: NM_006791:exon4:c.C173T:p.P58L,MORF4L1: NM_206839:exon5:c.C290T:p.P97L","---","---","---"]
["ALPK3","15q25.3",85360269,"rs115479471","C","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","stopgain","ALPK3: NM_020778:exon1:c.C192A:p.C64X","---","---","Cardiomyopathy dilated increased risk, Cardiomyopathy pediatric with dysmorphic & skeletal features, Cardiomyopathy fetal onset, Cardiomyopathy pediatric"]
["FANCI","15q26.1",89837114,".","T","C",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","FANCI: NM_001113378:exon23:c.T2342C:p.L781P,FANCI: NM_018193:exon23:c.T2342C:p.L781P","Fanconi anemia, complementation group I, 609053 (3)","Tracheoesophageal fistula, Esophageal atresia, Azoospermia, Hypertelorism, Multiple cafe-au-lait spots, External ear malformation, Umbilical hernia, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the iris, Cleft palate, Hypertrophic cardiomyopathy, Absent testis, Hypoplasia of the ulna, Reduced bone mineral density, Atrial septal defect, Irregular hyperpigmentation, Aganglionic megacolon, Myelodysplasia, Duodenal stenosis, Weight loss, Bicornuate uterus, Hypogonadism, Sloping forehead, Ptosis, Frontal bossing, Recurrent urinary tract infections, Aplasia/Hypoplasia of the radius, Abnormality of the liver, Scoliosis, Epicanthus, Ventriculomegaly, Short palpebral fissure, Proptosis, Finger syndactyly, Hyperreflexia, Abnormality of the hypothalamus-pituitary axis, Abnormal aortic morphology, Almond-shaped palpebral fissure, Renal insufficiency, Abnormality of chromosome stability, Patent ductus arteriosus, Hypospadias, Clubbing of toes, Thrombocytopenia, Abnormality of the preputium, Anal atresia, Hearing impairment, Global developmental delay, Leukopenia, Aplasia/Hypoplasia of the uvula, Intellectual disability, Short stature, Visual impairment, Intrauterine growth retardation, Oligohydramnios, Triphalangeal thumb, Dolichocephaly, Spina bifida, Cranial nerve paralysis, Micrognathia, Pyridoxine-responsive sideroblastic anemia, Choanal atresia, Pes planus, Cataract, Toe syndactyly, Hydroureter, Abnormal carotid artery morphology, Abnormality of femur morphology, Strabismus, Hydrocephalus, Abnormal localization of kidney, Facial asymmetry, Clinodactyly of the 5th finger, Astigmatism, Meckel diverticulum, Hip dislocation, Renal hypoplasia/aplasia, High palate, Microphthalmia, Hypopigmented skin patches, Decreased fertility in males, Microcephaly, Abnormal aortic valve morphology, Cryptorchidism, Tetralogy of Fallot, Arteriovenous malformation, Upslanted palpebral fissure, Nystagmus, Abnormal renal morphology, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Autosomal recessive inheritance, Abnormality of cardiovascular system morphology","Fanconi anaemia, Prostate cancer, Breast cancer, Head and neck squamous cell carcinoma, Fanconi anaemia with VACTERL association, Sarcoma, Cancer, Breast and/or ovarian cancer, Malignant pleural mesothelioma asbestos predisposition"]
["BLM","15q26.1",91310239,"rs191789336","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","BLM: NM_000057:exon10:c.G2293A:p.V765I,BLM: NM_001287247:exon10:c.G2293A:p.V765I,BLM: NM_001287248:exon10:c.G1168A:p.V390I,BLM: NM_001287246:exon11:c.G2293A:p.V765I","Bloom syndrome, 210900 (3)","Abnormality of chromosome stability, Short nose, Postnatal growth retardation, Sacral dimple, Squamous cell carcinoma, Ichthyosis, Dolichocephaly, Delayed skeletal maturation, Lymphoma, IgM deficiency, Intellectual disability, mild, Narrow face, Finger syndactyly, Neoplasm of the gastrointestinal tract, Spotty hyperpigmentation, Azoospermia, Microcephaly, IgG deficiency, Diarrhea, Recurrent respiratory infections, IgA deficiency, Acute leukemia, Erythema, Facial telangiectasia in butterfly midface distribution, Cutaneous photosensitivity, Reduced number of teeth, High pitched voice, Hypoplasia of the zygomatic bone, Decreased fertility in females, Short stature, Hyperhidrosis, Protruding ear, Hypopigmented skin patches, Intrauterine growth retardation, Sinusitis, Malar flattening, Hand polydactyly, Clinodactyly of the 5th finger, Type II diabetes mellitus, Bronchiectasis, Spotty hypopigmentation, Chronic lung disease, Syndactyly, Agenesis of maxillary lateral incisor, Leukemia, Cryptorchidism, Prominent nose, Cafe-au-lait spot, Autosomal recessive inheritance, Chromosome breakage, Specific learning disability, Hypertrichosis","Bloom syndrome, Breast cancer, Aplastic anemias, Pancreatic cancer, Prostate cancer, Non-small cell lung cancer, Poor prognosis in neuroblastoma, Colorectal cancer, Total loss of function, Partial loss of function, Medulloblastoma, Rectal cancer association with, Schizophrenia, Mesothelioma, Short stature, Ovarian cancer"]
["MCTP2","15q26.2",94841732,"rs574533536","AG","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","frameshift deletion","MCTP2: NM_001159643:exon1:c.239delG:p.S80fs,MCTP2: NM_018349:exon1:c.239delG:p.S80fs","---","Bifid tongue, Mitral atresia, Generalized joint laxity, Flat occiput, Micrognathia, Short distal phalanx of finger, Abnormal aortic arch morphology, Abnormal localization of kidney, Hypertelorism, Decreased serum insulin-like growth factor 1, Hearing impairment, Delayed speech and language development, Failure to thrive, Single transverse palmar crease, Abnormality of the dentition, Pulmonary hypoplasia, Coarse facial features, Global developmental delay, Patent ductus arteriosus, Mitral stenosis, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Short stature, Aplasia cutis congenita over the scalp vertex, Seizures, Low 1-minute APGAR score, Small for gestational age, Blepharophimosis, Autistic behavior, Attention deficit hyperactivity disorder, Broad nasal tip, Cleft palate, Microcephaly, Upslanted palpebral fissure, Finger clinodactyly, Hypoplastic left heart, Short philtrum, Small hand, Cryptorchidism, Thin upper lip vermilion, Cystic hygroma, Coarctation of aorta, Hypospadias, Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis, Intrauterine growth retardation, 2-3 toe cutaneous syndactyly, Postnatal growth retardation, Talipes equinovarus, Low-set ears, Multicystic kidney dysplasia, Micropenis, Hip dislocation, Triangular face, Bicuspid aortic valve, Small nail, Single umbilical artery, Strabismus, Genu valgum","Autism spectrum disorder, Coarctation of the aorta, Congenital heart disease severe, Bicuspid aortic valve"]
["RHBDF1","16p13.3",112775,"rs3213511","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","RHBDF1: NM_022450:exon6:c.C793T:p.R265W","---","---","Developmental disorder, Schizophrenia"]
["RHBDF1","16p13.3",114973,"rs201187945","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","RHBDF1: NM_022450:exon2:c.G41A:p.R14H","---","---","Developmental disorder, Schizophrenia"]
["LMF1","16p13.3",919002,"rs532127028","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","LMF1: NM_022773:exon10:c.G1471A:p.D491N","Lipase deficiency, combined, 246650 (3)","Hepatic steatosis, Diabetes mellitus, Increased circulating chylomicron levels, Lipemia retinalis, Acute pancreatitis, Perianal abscess, Hypertriglyceridemia, Hepatosplenomegaly, Failure to thrive, Pulmonary embolism, Dementia, Nausea and vomiting, Eruptive xanthomas, Abnormal emotion/affect behavior, Jaundice, Memory impairment, Episodic abdominal pain, Recurrent pancreatitis, Depressivity, Autosomal recessive inheritance, Abnormality of metabolism/homeostasis","Hypertriglyceridaemia, Hypertriglyceridemia & lipase deficiency, Acute pancreatitis hypertriglyceridaemic"]
["CACNA1H","16p13.3",1260793,"rs200400235","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","CACNA1H: NM_001005407:exon21:c.G4045A:p.A1349T,CACNA1H: NM_021098:exon21:c.G4045A:p.A1349T","Hyperaldosteronism, familial, type IV, 617027 (3)|{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)|{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)","Hypertension, Autosomal dominant inheritance","Juvenile myoclonic epilepsy, Epilepsy childhood absence, Hyperaldosteronism type II, Autism spectrum disorder, Epilepsy childhood absence association with, Idiopathic epilepsy generalised, Ptosis & facial dysmorphism, Epilepsy, Intellectual disability microcephaly and cortical atrophy, Altered channel function, Epilepsy with generalized tonic-clonic seizures alone, Schizophrenia, Aldosteronism primary, Aldosteronism primary early-onset, Atrioventricular canal defectsUnkwn & Neurodevelopmental disorder, Epilepsy with auditory features, Amyotrophic lateral sclerosis, Sudden unexpected death in epilepsy, Adenoma aldosterone-producing"]
["BAIAP3","16p13.3",1396616,"rs758687104","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","BAIAP3: NM_001199096:exon26:c.C2465T:p.P822L,BAIAP3: NM_001199097:exon27:c.C2573T:p.P858L,BAIAP3: NM_001199098:exon27:c.C2504T:p.P835L,BAIAP3: NM_001199099:exon27:c.C2489T:p.P830L,BAIAP3: NM_001286464:exon27:c.C2624T:p.P875L,BAIAP3: NM_003933:exon27:c.C2678T:p.P893L","---","---","Obesity extreme"]
["OR1F1","16p13.3",3255076,".","T","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","stopgain","OR1F1: NM_012360:exon1:c.T830A:p.L277X","---","---","Autism spectrum disorder"]
["CORO7;CORO7-PAM16","16p13.3",4405292,"rs201397239","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","CORO7: NM_001201473:exon25:c.G2512A:p.E838K,CORO7: NM_001201472:exon27:c.G2713A:p.E905K,CORO7-PAM16: NM_001201479:exon27:c.G2767A:p.E923K,CORO7: NM_001351729:exon27:c.G2107A:p.E703K,CORO7: NM_024535:exon27:c.G2767A:p.E923K",".",".","."]
["NUBP1","16p13.13",10855651,"rs538843052","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","NUBP1: NM_001278506:exon8:c.C722T:p.A241V,NUBP1: NM_001323594:exon8:c.C686T:p.A229V,NUBP1: NM_001323595:exon9:c.C755T:p.A252V,NUBP1: NM_001323597:exon9:c.C608T:p.A203V,NUBP1: NM_002484:exon9:c.C755T:p.A252V","---","---","---"]
["COQ7","16p12.3",19083384,".","C","CAGATGGCT","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","frameshift insertion","COQ7: NM_001190983:exon2:c.94 95insAGATGGCT:p.Q32fs,COQ7: NM_016138:exon2:c.208 209insAGATGGCT:p.Q70fs","?Coenzyme Q10 deficiency, primary, 8, 616733 (3)","Pain, Renal dysplasia, Muscle weakness, Visual impairment, Peripheral demyelination, Intrauterine growth retardation, Hearing impairment, Postnatal growth retardation, Muscular hypotonia, Motor delay, Oligohydramnios, Respiratory distress, Global developmental delay, Elevated serum creatinine, Congenital onset, Feeding difficulties, Small for gestational age, Polyneuropathy, Generalized hypotonia, Abnormal renal corticomedullary differentiation, Autosomal recessive inheritance, Flexion contracture, Pulmonary hypoplasia","Mitochondrial disease, Phenotype modifier, Spasticity and sensorineural hearing loss, Co-enzyme Q deficiency"]
["APOBR","16p11.2",28507295,".","GACAGCCTCAGGCGGGGAGGAGGCTGAA","G",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonframeshift deletion","APOBR: NM_018690:exon2:c.934 960del:p.312 320del","---","---","Autism spectrum disorder"]
["CX3CL1","16q21",57415980,"rs781169716","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","CX3CL1: NM_002996:exon3:c.C230T:p.P77L","---","---","Tourette syndrome"]
["TANGO6","16q22.1",69117506,"rs145390794","T","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","TANGO6: NM_024562:exon18:c.T3227C:p.M1076T","---","---","---"]
["SNTB2","16q22.1",69221644,".","T","TGGAGGGTGAGCGGGGCCGGGCG","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","frameshift insertion","SNTB2: NM_006750:exon1:c.575 576insGGAGGGTGAGCGGGGCCGGGCG:p.L192fs","---","---","---"]
["COG8","16q22.1",69366704,".","A","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","COG8: NM_032382:exon4:c.T1495C:p.C499R","Congenital disorder of glycosylation, type IIh, 611182 (3)","Elevated serum transaminases during infections, Alternating esotropia, Ventriculomegaly, Muscular hypotonia, Encephalopathy, Elevated serum creatine phosphokinase, Autosomal recessive inheritance, Intellectual disability, Cerebellar atrophy, Status epilepticus","Congenital disorder of glycosylation IIh, Developmental delay"]
["FUK","16q22.1",70500084,"rs140084649","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","FUK: NM_145059:exon5:c.C335T:p.P112L","---","---","---"]
["PMFBP1","16q22.2",72184631,"rs117953773","A","C","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","PMFBP1: NM_031293:exon5:c.T512G:p.I171S,PMFBP1: NM_001160213:exon6:c.T77G:p.I26S","---","---","Total cholesterol levels association with, Acephalic spermatozoa syndrome, Schizophrenia"]
["SNAI3","16q24.3",88752813,"rs775716413","A","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","SNAI3: NM_178310:exon1:c.T2A:p.M1K","---","---","Bicuspid aortic valve"]
["PIEZO1","16q24.3",88791441,"rs188966111","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","PIEZO1: NM_001142864:exon30:c.C4210T:p.R1404W","Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)|Lymphedema, hereditary, III, 616843 (3)","Jaundice, Pallor, Exercise-induced hemolysis, Splenomegaly, Autosomal dominant inheritance, Reticulocytosis, Hepatomegaly, Hepatitis, Cholelithiasis, Hemoglobinuria, Increased serum ferritin, Increased red cell hemolysis by shear stress, Gastroesophageal reflux, Facial edema, Hypothyroidism, Generalized edema, Phenotypic variability, Hearing impairment, Ascites, Pectus excavatum, Scoliosis, Hydrocele testis, Global developmental delay, Prune belly, Lymphedema, Nonimmune hydrops fetalis, Intestinal lymphangiectasia, Polyhydramnios, Autosomal recessive inheritance, Epicanthus, Cupped ear, Genital edema, Micrognathia, Periorbital edema, Chylothorax, Cellulitis, Short stature, Atrial septal defect, Webbed neck, Varicose veins, Deep venous thrombosis","Stomatocytosis dehydrated, Bone marrow failure, Xerocytosis hereditary, Lymphatic dysplasia with non-immune hydrops fetalis, Non-immune hydrops, Abnormality of blood and blood-forming tissues, Lymphatic dysplasia, Colorectal adenomatous polyposis, Xerocytosis hereditary modifier of, Immunodeficiency primary, Reduced plasmodium infection, Pseudohyperkalaemia familial, Hydrops fetalis nonimmune"]
["OVCA2","17p13.3",1946315,"rs373760635","A","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","OVCA2: NM_080822:exon2:c.A601C:p.T201P","---","---","---"]
["SMTNL2","17p13.2",4500503,"rs34049978","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","SMTNL2: NM_001114974:exon7:c.G1144A:p.D382N,SMTNL2: NM_198501:exon7:c.G712A:p.D238N","---","---","Developmental disorder"]
["SLC2A4","17p13.1",7189752,".","TG","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","frameshift deletion","SLC2A4: NM_001042:exon11:c.1335delG:p.M445fs","---","---","Aerobic endurance association with, Diabetes NIDDM"]
["DNAH2","17p13.1",7681731,"rs199632792","T","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","DNAH2: NM_020877:exon35:c.T5485G:p.C1829G","---","---","Otofaciocervical syndrome and severe combined immunodeficiency, Autism spectrum disorder, Amyotrophic lateral sclerosis, Hearing loss adult-onset"]
["DHRS7C","17p13.1",9683193,"rs143366707","C","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","DHRS7C: NM_001105571:exon3:c.G427T:p.D143Y,DHRS7C: NM_001220493:exon3:c.G430T:p.D144Y","---","---","---"]
["NT5M","17p11.2",17248207,"rs370539470","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","NT5M: NM_020201:exon4:c.C529T:p.R177W","---","---","---"]
["ALDH3A2","17p11.2",19552334,".","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","ALDH3A2: NM_000382:exon1:c.C50T:p.S17L,ALDH3A2: NM_001031806:exon1:c.C50T:p.S17L","Sjogren-Larsson syndrome, 270200 (3)","Opacification of the corneal epithelium, Thoracic kyphosis, CNS demyelination, Autosomal recessive inheritance, Photophobia, Hypoplasia of dental enamel, Ichthyosis, Intellectual disability, Seizures, Short stature, Spasticity, Macular degeneration, Myopia, Spastic diplegia, Abnormality of dental enamel, Joint stiffness, Corneal erosion, Muscular hypotonia, Hyperkeratosis, Skeletal dysplasia, Erythema, Dysarthria, Urticaria, Retinopathy, Dry skin, Inflammatory abnormality of the eye, Abnormality of retinal pigmentation, Scoliosis, Kyphosis, Microcephaly, Abnormal pyramidal signs, Generalized hyperpigmentation","Sj枚gren-Larsson Syndrome, Icthyosis, Ichthyosis syndromic, Intellectual disability autosomal recessive, Takotsubo (stress) cardiomyopathy"]
["SLC13A2","17q11.2",26824265,"rs782325326","ACAC","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonframeshift deletion","SLC13A2: NM_001145975:exon12:c.1905 1907del:p.635 636del,SLC13A2: NM_003984:exon12:c.1758 1760del:p.586 587del,SLC13A2: NM_001346683:exon13:c.1626 1628del:p.542 543del,SLC13A2: NM_001346684:exon14:c.1545 1547del:p.515 516del","---","---","Reduced transport activity, Altered substrate specificity"]
["PEX12","17q12",33902976,"rs373860467","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","PEX12: NM_000286:exon3:c.C905T:p.T302I","Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3)|Peroxisome biogenesis disorder 3B, 266510 (3)","Strabismus, Optic atrophy, Visual impairment, Ptosis, Sensorineural hearing impairment, Nystagmus, High forehead, Abnormality of the palate, Wide anterior fontanel, Seizures, Muscular hypotonia, EEG abnormality, Abnormality of movement, Developmental regression, Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Wide nasal bridge, Hyperreflexia, Abnormality of the liver, Severe global developmental delay, Bilateral single transverse palmar creases, Abnormality of neuronal migration, Abnormality of metabolism/homeostasis, Cataract, Anteverted nares, Dolichocephaly, Macrocephaly, Short stature, Primary adrenal insufficiency, Epiphyseal stippling, Flat face, Autosomal recessive inheritance, Generalized hypotonia, Areflexia, Polycystic kidney dysplasia, Low-set ears, Generalized neonatal hypotonia, Hepatomegaly, Feeding difficulties in infancy, Abnormal electroretinogram, Single transverse palmar crease, Failure to thrive, Hypocholesterolemia, Rod-cone dystrophy, Depressed nasal ridge, Steatorrhea, Hyporeflexia, Congenital onset, Malar flattening, Abnormal facial shape, Intellectual disability, Very long chain fatty acid accumulation, Osteoporosis, Global developmental delay, Abnormal bleeding, Polyneuropathy, Multicystic kidney dysplasia, Glaucoma, Cognitive impairment, Pyloric stenosis, External ear malformation, Abnormality of the tongue, Thickened nuchal skin fold, Clitoral hypertrophy, Skeletal dysplasia, Hypospadias, Flat occiput, Respiratory insufficiency, Polymicrogyria, Epicanthus, Abnormal chorioretinal morphology, Jaundice, Upslanted palpebral fissure, Reduced tendon reflexes, Corneal opacity, Microcephaly, Premature birth, Ventricular septal defect, Cryptorchidism, Profound global developmental delay, Death in infancy, Underdeveloped supraorbital ridges, Abnormality of coagulation, Hydronephrosis, Severe muscular hypotonia, Hepatic failure, Depressed nasal bridge, Micrognathia, Posterior embryotoxon, Malabsorption, Brushfield spots, High palate, Ichthyosis, Constriction of peripheral visual field, Elevated levels of phytanic acid, Facial palsy, Behavioral abnormality, Cardiomyopathy, Arrhythmia, Nyctalopia, Spasticity, Ataxia, Abnormality of epiphysis morphology, Progressive muscle weakness","Peroxisome biogenesis disorder 3, Zellweger syndrome, Intellectual disability/Inborn errors of metabolism, Peripheral neuropathy"]
["LHX1","17q12",35300301,".","T","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","LHX1: NM_005568:exon5:c.T1094A:p.L365Q","---","Autism, Cryptorchidism, Cerebral atrophy, Renal insufficiency, Language impairment, Short stature, Ureterocele, Pancreatic aplasia, Diabetes mellitus, Intellectual disability, Shawl scrotum, Feeding difficulties, Elevated hepatic transaminases, Large fontanelles, Oligohydramnios, Renal hypoplasia/aplasia, Hearing impairment, Seizures, Global developmental delay, Multicystic kidney dysplasia, Subcortical cerebral atrophy","Mullerian aplasia, Mayer-Rokitansky-K眉ster-Hauser syndrome"]
["KRT10","17q21.2",38975103,"rs776920005","A","AGCTGCCGCCGCCGTATCCGCCGCCGGAGCT",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonframeshift insertion","KRT10: NM_000421:exon7:c.1683 1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGC:p.S562delinsSSGGGYGGGSS","Epidermolytic hyperkeratosis, 113800 (3)|Ichthyosis with confetti, 609165 (3)|Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)","Autosomal dominant inheritance, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Erythema, Erythroderma, Clubbing, Hypertrichosis, Skin ulcer, Palmoplantar keratoderma, Conjunctival hamartoma, Weight loss, Poor appetite, Cutaneous photosensitivity, Abnormal blistering of the skin, Epidermal acanthosis, Scaling skin, Autosomal recessive inheritance","Ichthyosis with confetti, Reticular ichthyosiform erythroderma, Epidermolytic hyperkeratosis, Epidermolytic ichthyosis, Bullous erythroderma ichthyosiformis congenita, Epidermolytic ichthyosis annular, Ichthyosis, Ichthyosis hystrix Lambert type"]
["KRTAP1-5","17q21.2",39182945,"rs148850772","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","KRTAP1-5: NM_031957:exon1:c.C463T:p.R155C","---","---","---"]
["KRTAP1-3","17q21.2",39190954,".","G","GCAGCAGCTTGGCTGGCAGCAGCTGGTCTCA","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonframeshift insertion","KRTAP1-3: NM_030966:exon1:c.119 120insTGAGACCAGCTGCTGCCAGCCAAGCTGCTG:p.C40delinsCETSCCQPSCC","---","---","Autism spectrum disorder"]
["KRTAP2-2","17q21.2",39211182,"rs201126380","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","stopgain","KRTAP2-2: NM_033032:exon1:c.G282A:p.W94X","---","---","---"]
["KRT33B","17q21.2",39521751,"rs143499346","C","G",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","KRT33B: NM_002279:exon4:c.G643C:p.A215P","---","---","---"]
["ATP6V0A1","17q21.2",40647158,"rs771385911","T","C",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","ATP6V0A1: NM_001130020:exon13:c.T1442C:p.I481T,ATP6V0A1: NM_001130021:exon13:c.T1421C:p.I474T,ATP6V0A1: NM_005177:exon13:c.T1421C:p.I474T","---","---","Developmental disorder, Autism spectrum disorder, Lower blood pressure association with"]
["ASB16","17q21.31",42249569,"rs780266713","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","stopgain","ASB16: NM_080863:exon2:c.C457T:p.R153X","---","---","---"]
["UBTF","17q21.31",42287597,".","G","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","UBTF: NM_001076683:exon14:c.C1410A:p.D470E,UBTF: NM_001076684:exon14:c.C1410A:p.D470E,UBTF: NM_014233:exon15:c.C1521A:p.D507E","Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)","---","Congenital heart disease, Developmental regression, Red blood cell traits association with"]
["KIF2B","17q22",51901163,"rs76337756","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","KIF2B: NM_032559:exon1:c.C769T:p.R257C","---","---","Prostate cancer"]
["TRIM25","17q22",54985855,"rs757674606","C","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","TRIM25: NM_005082:exon2:c.G667T:p.V223L","---","---","---"]
["POLG2","17q23.3",62489138,"rs191057592","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","POLG2: NM_007215:exon2:c.G563A:p.G188D","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)","Gastroparesis, Limb muscle weakness, Exercise intolerance, Myalgia, Progressive, Seizures, Constipation, Progressive external ophthalmoplegia, Generalized hypotonia, Failure to thrive, Adult onset, Global developmental delay, Elevated serum creatine phosphokinase, Facial palsy, Elevated hepatic transaminases, Gastroesophageal reflux, Cytochrome C oxidase-negative muscle fibers, Autosomal dominant inheritance, Arrhythmia, Increased serum lactate, Progressive muscle weakness, Cortical visual impairment, Variable expressivity, Cerebellar atrophy, Ptosis, Glucose intolerance, Multiple mitochondrial DNA deletions","Mitochondrial disease, Progressive external ophthalmoplegia, Syndromic sensory neuropathy late - onest with ataxia and parkinsonism, Sensory peripheral neuropathy and dysautonomia, Hepatic failure & mitochondrial DNA depletion"]
["FADS6","17q25.1",72889676,".","G","GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC","PASS","trialleles","PASS","trialleles","PASS","trialleles",3,"exonic",".","nonframeshift insertion","FADS6: NM_178128:exon1:c.17 18insGATGGAACCTACGGAGCCCATGGAACCTACGGAGCCCATGGAACCTACGGAGCC:p.P6delinsPMEPTEPMEPTEPMEPTEP","---","---","---"]
["FADS6","17q25.1",72889676,".","G","GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC","PASS","trialleles","PASS","trialleles","PASS","trialleles",3,"exonic",".","nonframeshift insertion","FADS6: NM_178128:exon1:c.17 18insGATGGAACCTACGGAGCCCATGGAACCTACGGAGCCCATGGAACCTACGGAGCCCATGGAACCTACGGAGCC:p.P6delinsPMEPTEPMEPTEPMEPTEPMEPTEP","---","---","---"]
["MYO15B","17q25.1",73585313,".","A","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","unknown","UNKNOWN","---","---","---"]
["CDK3","17q25.1",73999328,"rs34670267","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","CDK3: NM_001258:exon7:c.G641A:p.R214H","---","---","---"]
["FSCN2","17q25.3",79496062,".","T","C",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","FSCN2: NM_001077182:exon1:c.T505C:p.W169R,FSCN2: NM_012418:exon1:c.T505C:p.W169R","Retinitis pigmentosa 30, 607921 (3)","Hypoplasia of penis, Abnormality of the testis, Hyperinsulinemia, Abnormality of retinal pigmentation, Nystagmus, Progressive night blindness, Optic atrophy, Keratoconus, Atypical scarring of skin, Blindness, Sensorineural hearing impairment, Hyperreflexia, Photophobia, Wide nasal bridge, Abnormal electroretinogram, Glaucoma, Abnormality of the retinal vasculature, Hypogonadism, Conductive hearing impairment, Obesity, Ophthalmoplegia, Intellectual disability, Cataract, Anteverted nares, Type II diabetes mellitus, Chorioretinal atrophy, Attenuation of retinal blood vessels, Autosomal dominant inheritance, Visual impairment, Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy","Retinitis pigmentosa autosomal dominant, Retinitis pigmentosa, Retinitis pigmentosa autosomal recessive, Leber congenital amaurosis, Pigmentary retinopathy progressive, Cone dystrophy"]
["GCGR","17q25.3",79769294,".","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","GCGR: NM_000160:exon7:c.C515T:p.T172I","{Diabetes mellitus, noninsulin-dependent}, 125853 (3)","Cholelithiasis, Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Abdominal pain, Increased glucagon level","Glucagon cell adenomatosis, Diabetes NIDDM association with, Glucagon receptor defect, Glucagon cell hyperplasia and neoplasia with hypercalcaemia, Hyperglucagonaemia and alpha cell hyperplasia"]
["ARHGDIA","17q25.3",79827300,".","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","ARHGDIA: NM_001301243:exon3:c.G392A:p.G131E","Nephrotic syndrome, type 8, 615244 (3)","Sensorineural hearing impairment, Chronic kidney disease, Proteinuria, Thin glomerular basement membrane, Nephrotic syndrome, Diffuse mesangial sclerosis, Intellectual disability, Neonatal onset, Autosomal recessive inheritance, Edema, Rapidly progressive, Cortical visual impairment, Hypoalbuminemia","Nephrotic syndrome"]
["RNMT","18p11.21",13734468,"rs772479115","GGAA","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonframeshift deletion","RNMT: NM_001308263:exon4:c.424 426del:p.142 142del,RNMT: NM_003799:exon4:c.424 426del:p.142 142del","---","---","---"]
["MYO5B","18q21.1",47429131,"rs777961930","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","MYO5B: NM_001080467:exon21:c.C2644T:p.R882W","Microvillus inclusion disease, 251850 (3)","Dehydration, Malnutrition, Death in infancy, Autosomal recessive inheritance, Villous atrophy, Protracted diarrhea, Growth delay, Abnormal renal physiology, Hypovolemia, Nephrocalcinosis, Global developmental delay, Abdominal distention, Metabolic acidosis, Pruritus, Diarrhea","Microvillus inclusion disease, Cholestasis"]
["PQLC1","18q23",77703340,"rs772743648","C","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","PQLC1: NM_001146343:exon3:c.G326T:p.R109L,PQLC1: NM_001146345:exon3:c.G326T:p.R109L,PQLC1: NM_025078:exon3:c.G326T:p.R109L","---","---","Tourette syndrome"]
["MADCAM1","19p13.3",501743,".","T","TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC","PASS","Homozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"exonic",".","nonframeshift insertion","MADCAM1: NM_130760:exon4:c.742 743insCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC:p.S248delinsSPDTTSQEPPDTTSQEP","---","---","---"]
["ABCA7","19p13.3",1047543,".","G","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","ABCA7: NM_019112:exon16:c.G2159T:p.G720V","{Alzheimer disease 9, susceptibility to}, 608907 (3)","Intellectual disability, Ataxia, Parkinsonism, Semantic dementia, Hypertonia, Deposits immunoreactive to beta-amyloid protein, Oculomotor apraxia, Disinhibition, Finger agnosia, Aphasia, Hallucinations, Memory impairment, Abnormality of vision, Confusion, Agitation, Cerebral cortical atrophy, Myoclonus, Neurofibrillary tangles, Abnormal social behavior, Dysgraphia, Language impairment, Seizures","Alzheimer disease, Alzheimer disease protection against, Parkinson disease, Autism, Diabetic retinopathy, Renal glucosuria familial, Alzheimer disease late-onset association with, Autism spectrum disorder"]
["DOT1L","19p13.3",2226895,".","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","stopgain","DOT1L: NM_032482:exon27:c.C4375T:p.Q1459X","---","---","Intellectual disability / developmental delay, Autism spectrum disorder, Schizophrenia, Gastric cancer"]
["TJP3","19p13.3",3736239,"rs2302306","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","TJP3: NM_001267560:exon11:c.G1204A:p.V402M,TJP3: NM_001267561:exon11:c.G1231A:p.V411M","---","---","Developmental disorder"]
["ZNF557","19p13.2",7075696,"rs202050084","GAGA","G",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonframeshift deletion","ZNF557: NM_001044387:exon4:c.63 65del:p.21 22del,ZNF557: NM_001044388:exon4:c.42 44del:p.14 15del,ZNF557: NM_024341:exon4:c.63 65del:p.21 22del","---","---","---"]
["MBD3L1","19p13.2",8953516,"rs144536799","A","ATGGGAGGAGAGC","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonframeshift insertion","MBD3L1: NM_145208:exon1:c.162 163insTGGGAGGAGAGC:p.Q54delinsQWEES","---","---","---"]
["OLFM2","19p13.2",9965346,"rs867803228","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","OLFM2: NM_001304348:exon5:c.G647A:p.R216H,OLFM2: NM_001304347:exon6:c.G953A:p.R318H,OLFM2: NM_058164:exon6:c.G881A:p.R294H","---","---","Intraocular pressure association with, Poor visual field score association with, Glaucoma open angle, Microphthalmia & coloboma"]
["TYK2","19p13.2",10469924,"rs200791116","C","G","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","TYK2: NM_003331:exon15:c.G2102C:p.R701T","Immunodeficiency 35, 611521 (3)","Elevated erythrocyte sedimentation rate, Antinuclear antibody positivity, Joint swelling, Iridocyclitis, Juvenile rheumatoid arthritis, Elevated C-reactive protein level, Arthralgia, Dental malocclusion, Polyarticular arthritis, Apraxia, Limitation of joint mobility, Joint dislocation, Immunodeficiency, Recurrent respiratory infections, Recurrent viral infections, Autosomal recessive inheritance, Recurrent fungal infections, Increased IgE level, Recurrent mycobacterial infections","Tyrosine kinase deficiency, Cancer predisposition to, Rheumatoid arthritis protection against, Autism spectrum disorder, Acute lymphoblastic leukaemia primary, Leprosy susceptibility to, Systemic lupus erythematosus susceptibility association with, Cutaneous melanoma & multiple primary cancers, Acute myeloid leukaemia reduced risk association with, Systemic lupus erythematosus decreased susceptibility, Hyper-IgE syndrome, Multiple sclerosis susceptibility to"]
["ZNF878","19p13.2",12154798,"rs570415622","TGA","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","frameshift deletion","ZNF878: NM_001080404:exon4:c.1416 1417del:p.T472fs","---","---","---"]
["ANO8","19p13.11",17439750,"rs563077699","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","ANO8: NM_020959:exon13:c.G1447A:p.V483M","---","---","---"]
["RFXANK","19p13.11",19307841,"rs545211228","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","RFXANK: NM_001278728:exon3:c.C254T:p.P85L,RFXANK: NM_001278727:exon4:c.C257T:p.P86L,RFXANK: NM_003721:exon4:c.C257T:p.P86L,RFXANK: NM_134440:exon4:c.C254T:p.P85L","MHC class II deficiency, complementation group B, 209920 (3)","Encephalitis, Protracted diarrhea, Recurrent fungal infections, Recurrent bacterial infections, Chronic lymphocytic meningitis, Viral hepatitis, Biliary tract abnormality, Neutropenia, Recurrent lower respiratory tract infections, Cutaneous anergy, Recurrent urinary tract infections, Autosomal recessive inheritance, Malabsorption, Colitis, Agammaglobulinemia, Autosomal dominant inheritance, Chronic mucocutaneous candidiasis, Failure to thrive, Villous atrophy, Panhypogammaglobulinemia, Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent protozoan infections","Bare lymphocyte syndrome, Immunodeficiency severe combined, MHC class II deficiency complementation group B, MHC class II deficiency, Bare lymphocyte syndrome complementation group B, Bare lymphocyte syndrome complementation group B type II, Primary immunodeficiency disease"]
["ZNF254","19p12",24310240,".","C","G",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","ZNF254: NM_001278678:exon2:c.C1183G:p.H395D,ZNF254: NM_001278663:exon3:c.C1183G:p.H395D,ZNF254: NM_001278664:exon3:c.C1219G:p.H407D,ZNF254: NM_203282:exon4:c.C1438G:p.H480D,ZNF254: NM_001278661:exon5:c.C1315G:p.H439D,ZNF254: NM_001278662:exon5:c.C1315G:p.H439D,ZNF254: NM_001278677:exon6:c.C1315G:p.H439D","---","---","---"]
["KMT2B","19q13.12",36212009,"rs2242519","C","G","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","KMT2B: NM_014727:exon3:c.C1760G:p.P587R","Dystonia 28, childhood-onset, 617284 (3)","Retrocollis, Progressive, Global developmental delay, Incomplete penetrance, Myoclonus, Dysarthria, Oromandibular dystonia, Motor delay, Spasticity, Astigmatism, Microcephaly, Abnormality of eye movement, Toe walking, Autosomal dominant inheritance, Laryngeal dystonia, Short stature, Cognitive impairment, Bulbous nose","Generalised dystonia early-onset, Complex dystonia early-onset, Intellectual disability / developmental delay, Kleefstra-like syndrome, Dystonia generalised, Autoimmunity, Developmental disorder, Dystonia, Pheochromocytoma/paraganglioma"]
["LTBP4","19q13.2",41128322,"rs375471279","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","unknown","UNKNOWN","Cutis laxa, autosomal recessive, type IC, 613177 (3)","Autosomal recessive inheritance, Retrognathia, Midface retrusion, Tracheomalacia, Malar flattening, Hypertelorism, Sandal gap, Pulmonary artery stenosis, Laryngomalacia, Pulmonary hypoplasia, Emphysema, Micrognathia, Generalized hypotonia, Joint laxity, Gastroesophageal reflux, Long philtrum, Wide nasal bridge, Pyloric stenosis, Bronchomalacia, Rectal prolapse, Patent foramen ovale, Sloping forehead, Cutis laxa, Umbilical hernia, Hydronephrosis, Periorbital edema, Bladder diverticulum, Inguinal hernia, Respiratory insufficiency, Progressive muscle weakness, Elevated serum creatine phosphokinase, Waddling gait, Skeletal muscle atrophy, Cognitive impairment, Flexion contracture, Proximal muscle weakness, Motor delay, Specific learning disability, Cardiomyopathy, Delayed speech and language development, Scoliosis, Global developmental delay, Calf muscle hypertrophy","Cutis laxa autosomal recessive type 1, Craniofacial anomalies pulmonary/visceral disruption & skin laxity, Aortic dissection acute, Muscular dystrophy Duchenne modifier of, Cutis laxa autosomal recessive type 1C"]
["PVR","19q13.31",45153329,"rs139528439","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","PVR: NM_001135768:exon3:c.G676A:p.E226K,PVR: NM_001135769:exon3:c.G676A:p.E226K,PVR: NM_001135770:exon3:c.G676A:p.E226K,PVR: NM_006505:exon3:c.G676A:p.E226K","---","---","Paralytic poliomyelitis association with, Platelet volume association with"]
["RELB","19q13.32",45506208,"rs191212936","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","unknown","UNKNOWN","?Immunodeficiency 53, 617585 (3)","---","Immunodeficiency"]
["RSPH6A","19q13.32",46299138,"rs773028484","T","TCTCCTCGCCCTCCTCCTC","PASS","Heterozygotes","PASS","Homozygotes","PASS","Heterozygotes",3,"exonic",".","nonframeshift insertion","RSPH6A: NM_030785:exon6:c.2142 2143insGAGGAGGAGGGCGAGGAG:p.T715delinsEEEGEET","---","---","Developmental disorder"]
["EHD2","19q13.33",48220035,".","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","EHD2: NM_014601:exon2:c.G166A:p.D56N","---","---","Autism"]
["GRWD1","19q13.33",48953925,"rs200765474","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","GRWD1: NM_031485:exon5:c.C685T:p.R229C","---","---","---"]
["ALDH16A1","19q13.33",49962956,"rs777499363","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","ALDH16A1: NM_001145396:exon4:c.G350A:p.R117Q,ALDH16A1: NM_153329:exon4:c.G350A:p.R117Q","---","---","Gout association with, Schizophrenia"]
["PRRG2","19q13.33",50086931,"rs142455549","C","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","PRRG2: NM_000951:exon3:c.C218G:p.S73C,PRRG2: NM_001316335:exon3:c.C149G:p.S50C","---","---","---"]
["TTYH1","19q13.42",54932531,"rs764890259","C","G",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","TTYH1: NM_001005367:exon3:c.C386G:p.A129G,TTYH1: NM_001201461:exon3:c.C386G:p.A129G,TTYH1: NM_020659:exon3:c.C386G:p.A129G","---","---","---"]
["NLRP9","19q13.42",56249721,"rs568593996","G","GA",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","frameshift insertion","NLRP9: NM_176820:exon1:c.19dupT:p.S7fs","---","---","---"]
["PEG3","19q13.43",57328017,"rs752107542","CGTTCAT","C",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonframeshift deletion","PEG3: NM_001146186:exon7:c.1787 1792del:p.596 598del,PEG3: NM_001146184:exon9:c.1787 1792del:p.596 598del,PEG3: NM_001146185:exon9:c.1409 1414del:p.470 472del,PEG3: NM_001146187:exon9:c.1415 1420del:p.472 474del,PEG3: NM_006210:exon10:c.1787 1792del:p.596 598del","---","---","Developmental disorder, Epileptic encephalopathy early onset with burst suppression"]
["ZNF749","19q13.43",57956740,"rs148699125","C","CA",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","frameshift insertion","ZNF749: NM_001321953:exon2:c.1964dupA:p.Q655fs,ZNF749: NM_001321954:exon2:c.1964dupA:p.Q655fs,ZNF749: NM_001023561:exon3:c.2225dupA:p.Q742fs,ZNF749: NM_001321952:exon3:c.2204dupA:p.Q735fs","---","---","---"]
["ZNF544","19q13.43",58788582,"rs780767101","GGGCCAGAAGGATCTGAGAGAGTGTGGCCAGCTTGAGCCCTCAGGAGTC","G","PASS","Homozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","frameshift deletion","ZNF544: NM_001320782:exon7:c.279 326del:p.R93fs","---","---","---"]
["PUM2","2p24.1",20482976,".","A","AGCTGCT","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonframeshift insertion","PUM2: NM_001282752:exon11:c.1283 1284insAGCAGC:p.A428delinsAAA,PUM2: NM_001282790:exon11:c.1451 1452insAGCAGC:p.A484delinsAAA,PUM2: NM_001282791:exon12:c.1283 1284insAGCAGC:p.A428delinsAAA,PUM2: NM_015317:exon12:c.1451 1452insAGCAGC:p.A484delinsAAA","---","---","---"]
["OTOF","2p23.3",26695503,"rs780704826","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","OTOF: NM_194322:exon12:c.C1678T:p.R560C,OTOF: NM_001287489:exon30:c.C3748T:p.R1250C,OTOF: NM_194248:exon30:c.C3748T:p.R1250C","Auditory neuropathy, autosomal recessive, 1, 601071 (3)|Deafness, autosomal recessive 9, 601071 (3)","Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex, Autosomal recessive inheritance","Hearing loss, Hearing loss non-syndromic autosomal recessive, Auditory neuropathy, Deafness non-syndromic, Deafness autosomal recessive 9, Auditory neuropathy spectrum disorder, Deafness non-syndromic autosomal recessive, Hearing loss autosomal recessive, Auditory neuropathy temperature-sensitive, Hearing loss non-syndromic, Deafness, Sensorineural hearing loss nonsyndromic, Hearing impairment, Hearing loss non-syndromic sensorineural, Reduced retinol levels"]
["OTOF","2p23.3",26699806,"rs201726560","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","OTOF: NM_194322:exon4:c.G559A:p.E187K,OTOF: NM_004802:exon5:c.G388A:p.E130K,OTOF: NM_194323:exon5:c.G388A:p.E130K,OTOF: NM_001287489:exon22:c.G2629A:p.E877K,OTOF: NM_194248:exon22:c.G2629A:p.E877K","Auditory neuropathy, autosomal recessive, 1, 601071 (3)|Deafness, autosomal recessive 9, 601071 (3)","Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex, Autosomal recessive inheritance","Hearing loss, Hearing loss non-syndromic autosomal recessive, Auditory neuropathy, Deafness non-syndromic, Deafness autosomal recessive 9, Auditory neuropathy spectrum disorder, Deafness non-syndromic autosomal recessive, Hearing loss autosomal recessive, Auditory neuropathy temperature-sensitive, Hearing loss non-syndromic, Deafness, Sensorineural hearing loss nonsyndromic, Hearing impairment, Hearing loss non-syndromic sensorineural, Reduced retinol levels"]
["CGREF1","2p23.3",27324253,".","GGCCTCTGCCTGGCCCCCAGCTTCCCCTCTGGGCCCGGGGGCATCTCCTTCA","G","PASS","Homozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"exonic",".","nonframeshift deletion","CGREF1: NM_001166239:exon6:c.795 845del:p.265 282del,CGREF1: NM_006569:exon6:c.795 845del:p.265 282del","---","---","---"]
["HEATR5B","2p22.2",37296064,"rs138165082","C","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","HEATR5B: NM_019024:exon8:c.G937T:p.V313F","---","---","---"]
["DYNC2LI1","2p21",44037520,"rs186836054","G","C",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","DYNC2LI1: NM_001348912:exon13:c.G994C:p.A332P,DYNC2LI1: NM_001348913:exon13:c.G997C:p.A333P","Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3)","Abnormality of the clavicle, Short thorax, Abnormality of the ribs, Nephronophthisis, Abnormality of pelvic girdle bone morphology, Postaxial foot polydactyly, Cone-shaped epiphysis, Narrow chest, Short foot, Nephropathy, Micromelia, Renal insufficiency, Abnormality of the liver, Respiratory insufficiency, Toe syndactyly, Skeletal dysplasia, Feeding difficulties in infancy, Postaxial hand polydactyly, Abnormality of retinal pigmentation, Abnormality of the metaphysis, Short stature, Aplasia/Hypoplasia of the lungs, Abnormality of the sternum, Brachydactyly, Cubitus valgus, Hydroureter, Atrioventricular canal defect, Intrauterine growth retardation, Renal hypoplasia/aplasia, Abnormal hair quantity, Cryptorchidism, Delayed eruption of teeth, Foot polydactyly, Strabismus, Microdontia, Capitate-hamate fusion, Intellectual disability, Situs inversus totalis, Abnormality of bone marrow cell morphology, Emphysema, Abnormal heart valve morphology, Abnormality of the fingernails, Epispadias, Abnormal oral frenulum morphology, Thin vermilion border, Hypospadias, Hand polydactyly, Conical incisor, Abnormality of female internal genitalia, Hypoplastic toenails, Genu valgum, Atrial septal defect, Acute leukemia, Short distal phalanx of finger, Synostosis of carpal bones, Neonatal short-limb short stature, Delayed skeletal maturation, Hypodontia, Nail dysplasia, Ventricular septal defect, Failure to thrive, Abnormality of oral mucosa, Depressed nasal bridge, Polyhydramnios, Short ribs, Epicanthus, Splenomegaly, Low-set ears, Hepatomegaly, Autosomal recessive inheritance, Downslanted palpebral fissures, Horizontal ribs","Ellis-van Creveld syndrome, Short-rib thoracic dysplasia with polydactyly, Jeune asphyxiating thoracic dystrophy, Short rib-polydactyly syndrome, Short rib-polydactyly syndrome type 2, Jeune-like syndrome"]
["PREPL","2p21",44586653,"rs202213424","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","PREPL: NM_001042385:exon1:c.C202T:p.R68W,PREPL: NM_001042386:exon1:c.C202T:p.R68W,PREPL: NM_006036:exon1:c.C202T:p.R68W,PREPL: NM_001171603:exon2:c.C202T:p.R68W,PREPL: NM_001171606:exon2:c.C202T:p.R68W","?Myasthenic syndrome, congenital, 22, 616224 (3)","Tented upper lip vermilion, Congenital onset, Feeding difficulties, Generalized hypotonia, Short stature, Motor delay, Growth hormone deficiency, Ptosis, Autosomal recessive inheritance, Nephrolithiasis, Decreased fetal movement, Frontal bossing, Retrognathia, Nasal speech, Fatigue, Epicanthus, Growth delay, Failure to thrive, Cystinuria, Muscular hypotonia, Dolichocephaly, Polyphagia, Mitochondrial respiratory chain defects, Long eyelashes, Seizures, Hypocalcemia, Depressed nasal bridge, Hypogonadism, Global developmental delay, Low-set, posteriorly rotated ears, Hypoglycemia, Intellectual disability, moderate, Lactic acidosis","PREPL deficiency"]
["CCDC142","2p13.1",74709270,"rs376698702","G","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","CCDC142: NM_032779:exon1:c.C695A:p.T232K","---","---","---"]
["M1AP","2p13.1",74834301,"rs117569670","T","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","M1AP: NM_001281295:exon4:c.A476T:p.E159V,M1AP: NM_001281296:exon4:c.A476T:p.E159V,M1AP: NM_001321739:exon4:c.A476T:p.E159V,M1AP: NM_138804:exon4:c.A476T:p.E159V","---","---","---"]
["MRPL19","2p12",75879330,".","A","G",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","MRPL19: NM_014763:exon3:c.A284G:p.E95G","---","---","---"]
["RNF103","2p11.2",86831610,"rs775028819","A","C",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","RNF103: NM_005667:exon4:c.T1414G:p.S472A,RNF103: NM_001198951:exon5:c.T1402G:p.S468A","---","---","---"]
["DPP10","2q14.1",116510757,"rs201054557","T","C",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","DPP10: NM_001321913:exon9:c.T196C:p.Y66H,DPP10: NM_001321909:exon10:c.T841C:p.Y281H,DPP10: NM_001004360:exon11:c.T937C:p.Y313H,DPP10: NM_001178034:exon11:c.T970C:p.Y324H,DPP10: NM_001178037:exon11:c.T946C:p.Y316H,DPP10: NM_001321907:exon11:c.T958C:p.Y320H,DPP10: NM_001321908:exon11:c.T868C:p.Y290H,DPP10: NM_001321911:exon11:c.T808C:p.Y270H,DPP10: NM_001321914:exon11:c.T196C:p.Y66H,DPP10: NM_020868:exon11:c.T958C:p.Y320H,DPP10: NM_001178036:exon12:c.T808C:p.Y270H,DPP10: NM_001321905:exon12:c.T1009C:p.Y337H,DPP10: NM_001321906:exon12:c.T937C:p.Y313H,DPP10: NM_001321910:exon12:c.T808C:p.Y270H,DPP10: NM_001321912:exon12:c.T808C:p.Y270H","---","---","---"]
["DBI","2q14.2",120129886,"rs8192507","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","DBI: NM_001079862:exon4:c.G256A:p.G86R,DBI: NM_001079863:exon4:c.G259A:p.G87R,DBI: NM_001178017:exon4:c.G439A:p.G147R,DBI: NM_001178043:exon4:c.G286A:p.G96R,DBI: NM_001282636:exon4:c.G184A:p.G62R,DBI: NM_001178041:exon5:c.G382A:p.G128R,DBI: NM_001178042:exon5:c.G307A:p.G103R,DBI: NM_001282633:exon5:c.G307A:p.G103R,DBI: NM_001282634:exon5:c.G307A:p.G103R,DBI: NM_001282635:exon5:c.G307A:p.G103R,DBI: NM_020548:exon5:c.G307A:p.G103R","---","---","Diabetes type 2 association with"]
["TFCP2L1","2q14.2",122038716,"rs374243132","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","TFCP2L1: NM_014553:exon2:c.C194T:p.T65M","---","---","---"]
["MYO7B","2q14.3",128347769,"rs780936085","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","MYO7B: NM_001080527:exon16:c.C1957T:p.R653C","---","---","Left ventricular obstruction, Autism spectrum disorder, Autism, Congenital heart disease"]
["HOXD13","2q31.1",176957650,"rs536639583","G","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","HOXD13: NM_000523:exon1:c.G32C:p.G11A","?Brachydactyly-syndactyly syndrome, 610713 (3)|Brachydactyly, type D, 113200 (3)|Brachydactyly, type E, 113300 (3)|Syndactyly, type V, 186300 (3)|Synpolydactyly 1, 186000 (3)","Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Short 5th metacarpal, Short phalanx of finger, Oligodactyly, Finger syndactyly, Camptodactyly, Brachydactyly, Short distal phalanx of finger, Metacarpal synostosis, Camptodactyly of finger, Metatarsal synostosis, Ulnar deviation of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, 3-4 finger syndactyly, Anal atresia, Tetralogy of Fallot, Spina bifida, Renal dysplasia, Syndactyly, Short thumb, Hypoplasia of the radius, Vesicoureteral reflux, Intrauterine growth retardation, Occipital encephalocele, Sporadic, Hypospadias, Ectopic kidney, Triphalangeal thumb, Esophageal atresia, Failure to thrive, Patent urachus, Hydronephrosis, Laryngeal stenosis, Preaxial polydactyly, Transposition of the great arteries, Tracheoesophageal fistula, Abnormal vertebral morphology, Patent ductus arteriosus, Abnormality of the sternum, Absent radius, Abnormality of the ribs, Single umbilical artery, Abnormality of the nasopharynx, Postnatal growth retardation, Scoliosis, Ventricular septal defect, Choanal atresia, Tethered cord, Radioulnar synostosis, Ureteropelvic junction obstruction, Large fontanelles, Renal agenesis, Straight clavicles, Short metacarpal, Multiple impacted teeth, Type E brachydactyly, Round face, Short clavicles, Moderately short stature, Autosomal dominant inheritance, Short metatarsal, Enlarged proximal interphalangeal joints, Fused fourth and fifth metacarpals, 3-4 toe syndactyly, Cutaneous finger syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 toe syndactyly, Joint contracture of the hand, Abnormality of the intervertebral disk, Bifid scrotum, Abnormality of the pancreas, Ambiguous genitalia, Cryptorchidism, Cleft palate, Non-midline cleft lip, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Abnormality of the gallbladder, Laryngomalacia, Anencephaly, Hypoplasia of penis, Abnormality of the sacrum, Cavernous hemangioma, Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Premature birth, Abnormality of female internal genitalia, Tracheal stenosis, Preaxial hand polydactyly, Vertebral segmentation defect, Aplasia/Hypoplasia of the radius, Broad distal phalanx of the hallux, Broad distal phalanx of the thumb, Type D brachydactyly, 6 metacarpals, Postaxial foot polydactyly, Contracture of the proximal interphalangeal joint of the 5th finger, Preaxial foot polydactyly, Mesoaxial hand polydactyly, Broad hallux, 2nd-5th toe middle phalangeal hypoplasia, Y-shaped metacarpals, Short stature, Frontal bossing, Upper limb asymmetry, Joint hyperflexibility, Aplasia/Hypoplasia of the distal phalanx of the hallux, Macrocephaly","Limb malformation, Synpolydactyly, Cryptorchidism association with, Abnormality of the respiratory system, Synpolydactyly with omphalocele, Brachydactyly, Syndactyly type 1c, Synpolydactyly with metacarpal to carpal transformation, Brachydactyly/oligodactyly, Syndactyly V"]
["TTN","2q31.2",179423230,".","G","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","TTN: NM_003319:exon155:c.C59761A:p.Q19921K,TTN: NM_133432:exon156:c.C60136A:p.Q20046K,TTN: NM_133437:exon156:c.C60337A:p.Q20113K,TTN: NM_133378:exon276:c.C79252A:p.Q26418K,TTN: NM_001256850:exon277:c.C82033A:p.Q27345K,TTN: NM_001267550:exon327:c.C86956A:p.Q28986K","Cardiomyopathy, dilated, 1G, 604145 (3)|Cardiomyopathy, familial hypertrophic, 9, 613765 (3)|Muscular dystrophy, limb-girdle, type 2J, 608807 (3)|Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)|Salih myopathy, 611705 (3)|Tibial muscular dystrophy, tardive, 600334 (3)","Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Muscular dystrophy, EMG: myopathic abnormalities, Childhood onset, Distal muscle weakness, Proximal muscle weakness, Sensorineural hearing impairment, Myopathy, Abnormality of neutrophils, Palmoplantar keratoderma, Dilated cardiomyopathy, Lipoatrophy, EMG abnormality, Autosomal dominant inheritance, Congenital onset, Sudden death, Calf muscle hypertrophy, Flexion contracture, Generalized muscle weakness, Motor delay, Centrally nucleated skeletal muscle fibers, Facial palsy, Infantile onset, Scoliosis, Arrhythmia, Ptosis, Hypertrophic cardiomyopathy, Foot dorsiflexor weakness, Diaphragmatic weakness, Neck flexor weakness, Rimmed vacuoles, Incomplete penetrance, Adult onset, Slow progression, Steppage gait","Cardiomyopathy hypertrophic modifier of, Tibial muscular dystrophy, Muscular dystrophy, Sudden cardiac death, Muscular dystrophy limb girdle 2J, Cardiomyopathy dilated, Distal titinopathy, Developmental disorder, Inclusion body myopathy, Myopathy distal, Arrhythmogenic right ventricular cardiomyopathy, Titinopathy, Rimmed vacuolar myopathy, Muscle weakness, Neuromuscular disorder, Muscular dystrophy Emery-Dreifuss-like without cardiomyopathy, Myopathy/Muscular dystrophy, Core myopathy with heart disease, Myopathy early-onset with cardiomyopathy, Cardiomyopathy left ventricular noncompaction, Muscular dystrophy limb girdle adult onset, Bannayan-Riley-Ruvalcaba-like syndrome, Cardiomyopathy, Centronuclear myopathy, Cardiac arrest, Congenital myopathy, Bannayan-Riley-Ruvalcaba syndrome, Noncompaction left ventricular, Arthrogryposis multiplex congenita with axoglial defects, QT interval association with, Muscular dystrophy limb girdle, Cardiomyopathy dilated and heart failure, Rigid spine syndrome and respiratory difficulty, Myopathy, Brugada syndrome, Cardiomyopathy hypertrophic, Hereditary myopathy with early respiratory failure, Sudden unexpected death in epilepsy, Cardiovascular, Cardiomyopathy arrhythmogenic, Cardiomyopathy dilated with left ventricular dysfunction, Autism spectrum disorder, Sudden arrhythmic death syndrome, Cardiomyopathy arrhythmogenic left ventricular, Myopathy with early respiratory failure, Hernia inguinal, Sudden unexplained death, Cardiomyopathy dilated with ventricular tachycardia, Cardiomyopathy restrictive, Cardiomyopathy peripartum/dilated, Sudden unexpected death, Breast cancer, Cardiomyopathy dilated reduced risk, Ventricular fibrillation idiopathic, Cardiomyopathy dilated non-compaction, Bradycardia, Myopathy congenital, Cardiomyopathy peripartum, Fetal akinesia, Ebstein anomaly, Left ventricular dysfunction, Decreased adult height association with, Tourette syndrome, Epilepsy, Core-rod myopathy, Centronuclear myopathy/Multi-minicore disease, Arthrogryposis multiplex congenita & myopathy without cardiac involvement, Multiminicore congenital myopathy, Cardiomyopathy hypertrophic association with, Contracture syndrome, Muscular dystrophy with enlarged heart, Mitochondrial myopathy, Conotruncal heart defects, Myopathy early-onset with fatal cardiomyopathy, Cardiac dysrhythmia, Cardiomyopathy/Myopathy/Muscular dystrophy, Schizophrenia, Malignant hyperthermia, Cardiomyopathy autosomal dominant with left ventricular noncompaction features, Muscular dystrophy limb-girdle"]
["TTN","2q31.2",179452058,"rs201119122","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","TTN: NM_003319:exon135:c.G36685A:p.G12229S,TTN: NM_133432:exon136:c.G37060A:p.G12354S,TTN: NM_133437:exon136:c.G37261A:p.G12421S,TTN: NM_133378:exon256:c.G56176A:p.G18726S,TTN: NM_001256850:exon257:c.G58957A:p.G19653S,TTN: NM_001267550:exon307:c.G63880A:p.G21294S","Cardiomyopathy, dilated, 1G, 604145 (3)|Cardiomyopathy, familial hypertrophic, 9, 613765 (3)|Muscular dystrophy, limb-girdle, type 2J, 608807 (3)|Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)|Salih myopathy, 611705 (3)|Tibial muscular dystrophy, tardive, 600334 (3)","Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Muscular dystrophy, EMG: myopathic abnormalities, Childhood onset, Distal muscle weakness, Proximal muscle weakness, Sensorineural hearing impairment, Myopathy, Abnormality of neutrophils, Palmoplantar keratoderma, Dilated cardiomyopathy, Lipoatrophy, EMG abnormality, Autosomal dominant inheritance, Congenital onset, Sudden death, Calf muscle hypertrophy, Flexion contracture, Generalized muscle weakness, Motor delay, Centrally nucleated skeletal muscle fibers, Facial palsy, Infantile onset, Scoliosis, Arrhythmia, Ptosis, Hypertrophic cardiomyopathy, Foot dorsiflexor weakness, Diaphragmatic weakness, Neck flexor weakness, Rimmed vacuoles, Incomplete penetrance, Adult onset, Slow progression, Steppage gait","Cardiomyopathy hypertrophic modifier of, Tibial muscular dystrophy, Muscular dystrophy, Sudden cardiac death, Muscular dystrophy limb girdle 2J, Cardiomyopathy dilated, Distal titinopathy, Developmental disorder, Inclusion body myopathy, Myopathy distal, Arrhythmogenic right ventricular cardiomyopathy, Titinopathy, Rimmed vacuolar myopathy, Muscle weakness, Neuromuscular disorder, Muscular dystrophy Emery-Dreifuss-like without cardiomyopathy, Myopathy/Muscular dystrophy, Core myopathy with heart disease, Myopathy early-onset with cardiomyopathy, Cardiomyopathy left ventricular noncompaction, Muscular dystrophy limb girdle adult onset, Bannayan-Riley-Ruvalcaba-like syndrome, Cardiomyopathy, Centronuclear myopathy, Cardiac arrest, Congenital myopathy, Bannayan-Riley-Ruvalcaba syndrome, Noncompaction left ventricular, Arthrogryposis multiplex congenita with axoglial defects, QT interval association with, Muscular dystrophy limb girdle, Cardiomyopathy dilated and heart failure, Rigid spine syndrome and respiratory difficulty, Myopathy, Brugada syndrome, Cardiomyopathy hypertrophic, Hereditary myopathy with early respiratory failure, Sudden unexpected death in epilepsy, Cardiovascular, Cardiomyopathy arrhythmogenic, Cardiomyopathy dilated with left ventricular dysfunction, Autism spectrum disorder, Sudden arrhythmic death syndrome, Cardiomyopathy arrhythmogenic left ventricular, Myopathy with early respiratory failure, Hernia inguinal, Sudden unexplained death, Cardiomyopathy dilated with ventricular tachycardia, Cardiomyopathy restrictive, Cardiomyopathy peripartum/dilated, Sudden unexpected death, Breast cancer, Cardiomyopathy dilated reduced risk, Ventricular fibrillation idiopathic, Cardiomyopathy dilated non-compaction, Bradycardia, Myopathy congenital, Cardiomyopathy peripartum, Fetal akinesia, Ebstein anomaly, Left ventricular dysfunction, Decreased adult height association with, Tourette syndrome, Epilepsy, Core-rod myopathy, Centronuclear myopathy/Multi-minicore disease, Arthrogryposis multiplex congenita & myopathy without cardiac involvement, Multiminicore congenital myopathy, Cardiomyopathy hypertrophic association with, Contracture syndrome, Muscular dystrophy with enlarged heart, Mitochondrial myopathy, Conotruncal heart defects, Myopathy early-onset with fatal cardiomyopathy, Cardiac dysrhythmia, Cardiomyopathy/Myopathy/Muscular dystrophy, Schizophrenia, Malignant hyperthermia, Cardiomyopathy autosomal dominant with left ventricular noncompaction features, Muscular dystrophy limb-girdle"]
["WDR75","2q32.2",190339483,"rs116065475","T","C",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","WDR75: NM_032168:exon20:c.T2237C:p.F746S,WDR75: NM_001303096:exon21:c.T2045C:p.F682S","---","---","Autism spectrum disorder"]
["DNAH7","2q32.3",196877509,"rs766169736","ACATTTT","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","frameshift deletion","DNAH7: NM_018897:exon10:c.985 989del:p.K329fs","---","---","Autism spectrum disorder, Intrauterine growth restriction scalloping of cranial bones heart defect club foot & pyelectasis, Dysmorphic features seizures & hypotonia, Breast cancer early-onset, Cerebral abnormalities, Asplenia syndrome, Intellectual disability autosomal recessive"]
["CCDC150","2q33.1",197540913,"rs78494199","T","C",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","CCDC150: NM_001080539:exon11:c.T1184C:p.L395S","---","---","---"]
["TRAK2","2q33.1",202263031,".","C","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","TRAK2: NM_015049:exon6:c.G527T:p.R176L","---","---","Autism spectrum disorder, Alzheimer disease late-onset association with"]
["DYTN","2q33.3",207564538,"rs200283597","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","DYTN: NM_001093730:exon7:c.C632T:p.P211L","---","---","Autism spectrum disorder"]
["ATIC","2q35",216191586,"rs77239104","T","G","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ATIC: NM_004044:exon7:c.T573G:p.D191E","AICA-ribosiduria due to ATIC deficiency, 608688 (3)","Thin upper lip vermilion, Fused labia minora, Wide mouth, Brachycephaly, Prominent nasal bridge, Autosomal recessive inheritance, Prominent forehead, Abnormality of metabolism/homeostasis, Anteverted nares, Seizures, Optic atrophy, Generalized hypotonia, Clitoral hypertrophy, Atrial septal defect, Low-set ears, Congenital blindness, Abnormality of the skin, Frontal bossing, Intellectual disability, profound, Intellectual disability, severe","AICA-Ribosiduria, Good methotrexate response, Heterotaxy, Transposition of the great arteries with extra-cardiac anomalies and neurodevelopmental disorder, Autism spectrum disorder, Left ventricular obstruction with extracardiac anomalies & Neurodevelopmental disorder"]
["FN1","2q35",216237051,".","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","FN1: NM_001306131:exon38:c.C5752T:p.P1918S,FN1: NM_212476:exon38:c.C5752T:p.P1918S,FN1: NM_002026:exon39:c.C6022T:p.P2008S,FN1: NM_001306129:exon40:c.C6295T:p.P2099S,FN1: NM_212482:exon40:c.C6295T:p.P2099S","Glomerulopathy with fibronectin deposits 2, 601894 (3)|Plasma fibronectin deficiency, 614101 (1)|Spondylometaphyseal dysplasia, corner fracture type, 184255 (3)","Hypoplasia of the odontoid process, Short femoral neck, Coxa vara, Hyperconvex vertebral body endplates, Autosomal dominant inheritance, Metaphyseal irregularity, Short stature, Waddling gait, Spondylometaphyseal dysplasia, Edema of the lower limbs, Hypoalbuminemia, Glomerulopathy, Proteinuria, Microscopic hematuria, Hypertension, Renal insufficiency, Nephrotic syndrome, Mesangial abnormality, Cerebral hemorrhage, Renal cell carcinoma, Slow progression, Stage 5 chronic kidney disease, Generalized distal tubular acidosis, Tetralogy of Fallot, Recurrent fractures, Pes planus, Genu valgum, Hyperlordosis, Scoliosis, Micromelia, Abnormality of the wrist, Mild short stature, Ovoid vertebral bodies, Kyphosis","Autism spectrum disorder, Glomerulopathy with fibronectin deposits, Tourette syndrome, Thin basement membrane disease, Bicuspid aortic valve, Autism, Schizophrenia, Spondyloepimetaphyseal dysplasia with corner fractures, Spondyloepimetaphyseal dysplasia"]
["AP1S3","2q36.1",224642466,"rs745424134","G","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","AP1S3: NM_001039569:exon2:c.C124A:p.R42S","{Psoriasis 15, pustular, susceptibility to}, 616106 (3)","---","Pustular psoriasis"]
["COL4A4","2q36.3",227875160,".","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","COL4A4: NM_000092:exon46:c.G4391A:p.G1464D","Alport syndrome, autosomal recessive, 203780 (3)|Hematuria, familial benign (3)","Cataract, Hematuria, Hypertension, Stage 5 chronic kidney disease, Diffuse glomerular basement membrane lamellation, Hearing impairment, Myopia, Proteinuria, Nephritis, Heterogeneous, Autosomal recessive inheritance, Anterior lenticonus, Nephrotic syndrome, Thickening of the glomerular basement membrane, Corneal erosion, Progressive","Alport syndrome / thin basement membrane nephropathy, Alport syndrome, Glomerular kidney disease, Focal segmental glomerulosclerosis, Thin basement membrane disease, Nephrotic syndrome steroid resistant, Nephritis, Microtia, Collagen IV nephropathy, Benign haematuria, Haematuria, Deafness, Glomerular microscopic haematuria, Alport syndrome autosomal dominant, Nephrotic syndrome early onset, Alport syndrome modifier, Focal and secondary glomerulosclerosis, Kidney disease, Macroscopic haematuria with microhaematuria, Microhaematuria and proteinuria, Thin basement membrane nephropathy"]
["PSMD1","2q37.1",231947652,"rs749311886","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","PSMD1: NM_001191037:exon13:c.G1469A:p.R490H,PSMD1: NM_002807:exon13:c.G1469A:p.R490H","---","---","---"]
["IQCA1","2q37.2",237247013,"rs186626813","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","IQCA1: NM_001270584:exon16:c.C1846T:p.R616C,IQCA1: NM_001270585:exon17:c.C1993T:p.R665C,IQCA1: NM_024726:exon17:c.C1969T:p.R657C","---","---","---"]
["COL6A3","2q37.3",238290061,"rs781231935","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","COL6A3: NM_057164:exon3:c.G173A:p.R58Q,COL6A3: NM_057166:exon3:c.G173A:p.R58Q,COL6A3: NM_057165:exon4:c.G776A:p.R259Q,COL6A3: NM_057167:exon4:c.G776A:p.R259Q,COL6A3: NM_004369:exon5:c.G1394A:p.R465Q","Bethlem myopathy 1, 158810 (3)|Dystonia 27, 616411 (3)|Ullrich congenital muscular dystrophy 1, 254090 (3)","Esotropia, Torticollis, Hip dislocation, Hyperextensibility at wrists, Generalized hypotonia, Increased endomysial connective tissue, Scoliosis, Kyphosis, Decreased fetal movement, EMG: myopathic abnormalities, Elbow flexion contracture, Spinal rigidity, Respiratory failure, Generalized amyotrophy, Generalized muscle weakness, Short neck, Adducted thumb, Slender finger, Diaphragmatic weakness, Micrognathia, Abnormality of the palate, Long toe, Increased laxity of fingers, Elevated serum creatine phosphokinase, Increased variability in muscle fiber diameter, Knee flexion contracture, Pes valgus, Frequent falls, Cachexia, Joint stiffness, Myopathy, Camptodactyly of finger, EMG abnormality, Abnormality of the cardiovascular system, Proximal muscle weakness, Congenital muscular torticollis, Skeletal muscle atrophy, Motor delay, Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Slow progression, Variable expressivity, Neonatal hypotonia, Ankle contracture, Autosomal recessive inheritance, Limb-girdle muscle weakness, Autosomal dominant inheritance, Postural tremor, Oromandibular dystonia, Writer's cramp, Laryngeal dystonia, Congenital muscular dystrophy, Joint laxity, Round face, Follicular hyperkeratosis, Mildly elevated creatine phosphokinase, Recurrent lower respiratory tract infections, Protruding ear, Infantile onset, Feeding difficulties in infancy, High palate, Hyperhidrosis, Type 1 muscle fiber predominance, Slender build, Nocturnal hypoventilation, Failure to thrive, Facial palsy, Flexion contracture, Progressive, Muscle fiber necrosis, Increased laxity of ankles, Talipes equinovarus","Collagen VI myopathy, Muscular dystrophy, Dystonia, Neuromuscular disorder, Bethlem myopathy, Collagen VI deficiency, Bethlem myopathy/Ullrich congenital muscular dystrophy, Ullrich congenital muscular dystrophy, Muscular dystrophy congenital, Atrioventricular septal defect Down-syndrome-associated, Ullrich congenital muscular dystrophy 1, Arthrogryposis, Muscular dystrophy limb girdle, Inflammatory myopathy, Recurrent pregnancy loss, Muscular dystrophy limb-girdle, Myopathy, Ullrich congenital muscular dystrophy intermediate, Hirschsprung disease, Muscular dystrophy & congenital myopathy, Myopathy congenital, Intellectual disability/Myopathy/Muscular dystrophy"]
["2023-09-02","2q37.3",242256950,"rs750805176","AT","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","frameshift deletion","SEPT2: NM_001349287:exon3:c.111delT:p.Y37fs","---","---","---"]
["SIGLEC1","20p13",3673237,"rs147714278","C","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","SIGLEC1: NM_023068:exon15:c.G3961C:p.A1321P","---","---","Schizophrenia, Decreased IgM levels, SIGLEC1 deficiency"]
["GPCPD1","20p12.3",5579455,"rs187507776","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","GPCPD1: NM_019593:exon3:c.C62T:p.A21V","---","---","Autism spectrum disorder"]
["BFSP1","20p12.1",17474778,"rs148119487","C","G",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","BFSP1: NM_001161705:exon8:c.G1564C:p.E522Q,BFSP1: NM_001195:exon8:c.G1939C:p.E647Q,BFSP1: NM_001278607:exon8:c.G1606C:p.E536Q,BFSP1: NM_001278606:exon9:c.G1522C:p.E508Q,BFSP1: NM_001278608:exon10:c.G1522C:p.E508Q","Cataract 33, multiple types, 611391 (3)","Autosomal dominant inheritance, Cortical cataract, Autosomal recessive inheritance, Nuclear cataract","Cataract autosomal recessive juvenile, Cataract autosomal recessive, Congenital cataract, Cataract autosomal dominant, Developmental disorder"]
["KIZ","20p11.23",21195244,"rs748938697","A","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","unknown","UNKNOWN","Retinitis pigmentosa 69, 615780 (3)","Hypoplasia of penis, Abnormality of the testis, Hyperinsulinemia, Abnormality of retinal pigmentation, Nystagmus, Progressive night blindness, Optic atrophy, Keratoconus, Atypical scarring of skin, Blindness, Sensorineural hearing impairment, Hyperreflexia, Photophobia, Wide nasal bridge, Abnormal electroretinogram, Glaucoma, Abnormality of the retinal vasculature, Hypogonadism, Conductive hearing impairment, Obesity, Ophthalmoplegia, Intellectual disability, Cataract, Anteverted nares, Type II diabetes mellitus, Autosomal recessive inheritance, Rod-cone dystrophy, Pigmentary retinopathy, Undetectable electroretinogram, Constriction of peripheral visual field","Rod-cone dystrophy autosomal recessive"]
["BPIFA3","20q11.21",31814277,"rs74640466","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","BPIFA3: NM_001042439:exon4:c.C494T:p.P165L,BPIFA3: NM_178466:exon5:c.C602T:p.P201L","---","---","Autism spectrum disorder"]
["CNBD2","20q11.23",34618553,"rs750499821","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","stopgain","CNBD2: NM_080834:exon12:c.C1702T:p.R568X","---","---","---"]
["SALL4","20q13.2",50400989,"rs138891224","C","G",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","SALL4: NM_001318031:exon4:c.G1666C:p.G556R,SALL4: NM_020436:exon4:c.G2977C:p.G993R","Duane-radial ray syndrome, 607323 (3)|IVIC syndrome, 147750 (3)","Arrhythmia, Aplastic clavicles, Thrombocytopenia, Abnormal dermatoglyphics, Strabismus, Preaxial hand polydactyly, Scoliosis, Radioulnar synostosis, Rectovaginal fistula, Hypoplasia of the radius, Synostosis of carpal bones, Severe short stature, Short thumb, Hearing impairment, Triphalangeal thumb, Joint stiffness, Anal atresia, Leukocytosis, Atrial septal defect, Facial palsy, Absent thumb, Hypoplasia of the ulna, Vesicoureteral reflux, Horseshoe kidney, Cataract, Duane anomaly, Hypertelorism, Syndactyly, Phenotypic variability, Optic disc hypoplasia, Retinal coloboma, Fused cervical vertebrae, Pectoralis hypoplasia, Renal hypoplasia, Impaired ocular adduction, Small thenar eminence, Short humerus, Impaired convergence, Renal agenesis, Sensorineural hearing impairment, Pes planus, Palpebral fissure narrowing on adduction, Radial deviation of the hand, Choanal stenosis, Sandal gap, Microphthalmia, Congenital strabismus, Anal stenosis, Preaxial polydactyly, Hydronephrosis, Abnormality of the nasopharynx, Aplasia of metacarpal bones, Autosomal dominant inheritance, Iris coloboma, Aganglionic megacolon, Absent radius, Ventricular septal defect, Epicanthus, Choanal atresia, Spina bifida occulta, Impaired ocular abduction, Crossed fused renal ectopia, Facial asymmetry, Renal malrotation, Slit-like opening of the exterior auditory meatus, Upper limb muscle hypoplasia, Radial club hand, Talipes, Visual impairment, Microcornea, Short distal phalanx of the thumb, Short hallux, Optic nerve coloboma, Vertebral fusion, Toe syndactyly, Renal hypoplasia/aplasia, Finger syndactyly, Tetralogy of Fallot, Conductive hearing impairment, Short palpebral fissure, Postnatal growth retardation, Ptosis, Broad hallux phalanx, Bladder diverticulum, Chorioretinal coloboma, Nystagmus, External ophthalmoplegia, Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Intestinal malrotation, Pectoralis major hypoplasia, Carpal synostosis, Short 1st metacarpal, Carpal bone hypoplasia, Hypoplasia of deltoid muscle","Autism spectrum disorder, Radial ray defect, Okihiro syndrome, Holt-Oram syndrome, Cranial midline defects/ mild Okihiro syndrome, IVIC syndrome, Renal agenesis, Congenital anomalies of the kidney and urinary tract, Acro-renal-ocular syndrome, Premature ovarian failure, Ventricular septal defect, Microphthalmia coloboma & optic nerve hypoplasia, Duane retraction syndrome, Multicystic dysplastic kidney, VACTERL"]
["BACE2","21q22.3",42617959,"rs531921336","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","BACE2: NM_012105:exon6:c.C953T:p.A318V,BACE2: NM_138991:exon6:c.C953T:p.A318V,BACE2: NM_138992:exon6:c.C953T:p.A318V","---","---","Autism spectrum disorder"]
["SLC2A11","22q11.23",24199679,"rs533061803","G","C","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","SLC2A11: NM_001282864:exon1:c.G3C:p.M1I,SLC2A11: NM_030807:exon2:c.G3C:p.M1I","---","---","---"]
["UPB1","22q11.23",24919647,"rs118163237","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","UPB1: NM_016327:exon9:c.G977A:p.R326Q","Beta-ureidopropionase deficiency, 613161 (3)","Infantile onset, Intellectual disability, Hypsarrhythmia, Delayed CNS myelination, Microcephaly, Bifid scrotum, Dystonia, Global developmental delay, Anal atresia, Bladder exstrophy, Status epilepticus, Neonatal hypotonia, Autosomal recessive inheritance, Scoliosis, Neurological speech impairment","Beta-ureidopropionase deficiency"]
["PIWIL3","22q11.23",25155852,".","TC","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","frameshift deletion","PIWIL3: NM_001008496:exon3:c.206delG:p.G69fs,PIWIL3: NM_001255975:exon3:c.206delG:p.G69fs","---","---","Oligospermia reduced risk association with"]
["LIMK2","22q12.2",31673024,".","G","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","LIMK2: NM_001031801:exon15:c.G1959T:p.K653N","---","---","Colorectal cancer, Beh莽et disease association with"]
["SELENOO","22q13.33",50649080,".","G","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","unknown","UNKNOWN",".",".","."]
["SEC13","3p25.3",10354264,"rs753957435","TGAG","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonframeshift deletion","SEC13: NM_001136232:exon4:c.270 272del:p.90 91del,SEC13: NM_001278946:exon4:c.312 314del:p.104 105del,SEC13: NM_183352:exon4:c.312 314del:p.104 105del,SEC13: NM_001136026:exon5:c.450 452del:p.150 151del,SEC13: NM_030673:exon5:c.321 323del:p.107 108del","---","---","---"]
["SYN2","3p25.2",12046276,"rs71624922","A","G","PASS","Homozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"exonic",".","unknown","UNKNOWN","{Schizophrenia, susceptibility to}, 181500 (3)","---","Autism spectrum disorder, Epilepsy, Thyrotropin levels association with"]
["GRIP2","3p25.1",14561662,"rs569984566","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","unknown","UNKNOWN","---","---","---"]
["MYD88","3p22.2",38182249,"rs778597415","T","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","MYD88: NM_001172568:exon3:c.T550A:p.C184S,MYD88: NM_001172567:exon4:c.T709A:p.C237S,MYD88: NM_002468:exon4:c.T685A:p.C229S","Macroglobulinemia, Waldenstrom, somatic, 153600 (3)|Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)","Monoclonal immunoglobulin M proteinemia, Autosomal dominant inheritance, Leukemia, Polyneuropathy, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent bacterial skin infections, Fever, Immunodeficiency, Gastrointestinal hemorrhage, Vertigo, Fatigue, Hepatomegaly, Renal insufficiency, Malabsorption, Abnormality of the retinal vasculature, Gingival bleeding, Proptosis, Splenomegaly, Cranial nerve paralysis, Diarrhea, Hypercoagulability, Epistaxis, Lymphadenopathy, Pleural effusion, Elevated erythrocyte sedimentation rate, Pallor, Hearing impairment, Retinal hemorrhage, Cutis marmorata, Stroke, Edema of the lower limbs, Respiratory insufficiency, Periorbital edema, Peripheral neuropathy, Abnormality of neutrophils, Migraine, Urticaria, Anorexia, Memory impairment, Recurrent infections, Cryoglobulinemia, Normocytic anemia, Multifocal epileptiform discharges, Purpura, Reduced consciousness/confusion, Ataxia, Congestive heart failure, Vasculitis, Pulmonary infiltrates","Reduced function, MYD88 deficiency"]
["SLC22A13","3p22.2",38316572,"rs573738966","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","SLC22A13: NM_004256:exon4:c.G730A:p.A244T","---","---","---"]
["XCR1","3p21.31",46063033,".","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","XCR1: NM_001024644:exon2:c.C407T:p.S136F,XCR1: NM_005283:exon3:c.C407T:p.S136F","---","---","---"]
["FAM240A","3p21.31",46654182,"rs17079007","G","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","FAM240A: NM_001195442:exon1:c.G27T:p.L9F",".",".","."]
["SETD2","3p21.31",47129691,".","G","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","SETD2: NM_001349370:exon9:c.C5057G:p.S1686C,SETD2: NM_014159:exon10:c.C5189G:p.S1730C","Luscan-Lumish syndrome, 616831 (3)","Feeding difficulties in infancy, Cryptorchidism, Muscular hypotonia, Precocious puberty, Micrognathia, High palate, Craniosynostosis, Anteverted nares, Genu varum, Patent ductus arteriosus, Seizures, Behavioral abnormality, Genu valgum, Abnormality of the fingernails, Downslanted palpebral fissures, EEG abnormality, Neoplasm of the nervous system, Vesicoureteral reflux, Hypertelorism, High forehead, Conductive hearing impairment, Hypoglycemia, Macrocephaly, Strabismus, Congenital hip dislocation, Prominent forehead, Accelerated skeletal maturation, Renal duplication, Scoliosis, Advanced eruption of teeth, Multiple renal cysts, Hypospadias, Mandibular prognathia, Frontal bossing, Abnormality of immune system physiology, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the corpus callosum, Sacrococcygeal teratoma, Intellectual disability, Depressed nasal ridge, Obesity, Global developmental delay, Coarse facial features, Hyperreflexia, Ventriculomegaly, Tall stature, Macrotia, Dolichocephaly, Malar flattening, Phenotypic variability, Autistic behavior, Autosomal dominant inheritance, Slurred speech, Aggressive behavior, Delayed speech and language development, Advanced ossification of carpal bones, Shyness, Recurrent otitis media, Arnold-Chiari malformation, Overgrowth, High anterior hairline, Syringomyelia, Long nose, Pointed chin, Short stature, Polycystic ovaries, Hirsutism, Long face, Long foot, Menstrual irregularities, Generalized hypotonia, Polyphagia","Malignant mesothelioma, Autism, Overgrowth syndrome, Overgrowth macrocephaly obesity facial features carpal ossification & speech delay, Intellectual disability, Intellectual disability / developmental delay, Intellectual disability/developmental delay, Increased adult height association with, Lynch syndrome, Autism / Angelman syndrome"]
["IQCF1","3p21.2",51937032,"rs766637299","TG","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","frameshift deletion","IQCF1: NM_152397:exon2:c.76delC:p.H26fs","---","---","---"]
["ABHD14B","3p21.2",52005476,"rs772084428","C","G",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","ABHD14B: NM_001146314:exon2:c.G211C:p.G71R,ABHD14B: NM_032750:exon2:c.G211C:p.G71R","---","---","Abhydrolase domain containing 14B deficiency"]
["ASB14","3p14.3",57310747,"rs144656144","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","ASB14: NM_130387:exon3:c.G740A:p.R247H,ASB14: NM_001142733:exon10:c.G1595A:p.R532H","---","---","Autism spectrum disorder"]
["OR5H15","3q11.2",97887843,"rs377659479","AT","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","frameshift deletion","OR5H15: NM_001005515:exon1:c.301delT:p.F101fs","---","---","---"]
["LNP1","3q12.2",100170600,"rs71132521","A","ATCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT","PASS","Homozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"exonic",".","nonframeshift insertion","LNP1: NM_001085451:exon3:c.194 195insTCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT:p.H65delinsHPRRHSHEDQEFRCRSSDRL","---","---","---"]
["TMPRSS7","3q13.2",111766748,"rs144239192","AC","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","frameshift deletion","TMPRSS7: NM_001042575:exon5:c.516delC:p.N172fs","---","---","---"]
["MAATS1","3q13.33",119422037,"rs577314013","TCTC","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonframeshift deletion","MAATS1: NM_033364:exon1:c.93 95del:p.31 32del","---","---","Schizophrenia"]
["SEMA5B","3q21.1",122642588,"rs78693594","G","C",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","SEMA5B: NM_001256348:exon9:c.C974G:p.A325G,SEMA5B: NM_001031702:exon10:c.C1148G:p.A383G,SEMA5B: NM_001256346:exon10:c.C1148G:p.A383G,SEMA5B: NM_001256347:exon10:c.C1310G:p.A437G","---","---","Autism spectrum disorder"]
["KALRN","3q21.2",124281844,"rs78202770","C","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","KALRN: NM_001024660:exon34:c.C5084A:p.P1695Q,KALRN: NM_001322988:exon34:c.C5084A:p.P1695Q","{Coronary heart disease, susceptibility to, 5}, 608901 (3)","---","Autism spectrum disorder, Intellectual disability & short stature, Sarcoidosis, Platelet count association with, Left ventricular obstruction, Schizophrenia association with"]
["TXNRD3","3q21.3",126362884,"rs3732532","A","G","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","unknown","UNKNOWN","---","---","---"]
["IGSF10","3q25.1",151162965,"rs79363433","C","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","stopgain","IGSF10: NM_178822:exon4:c.G4804T:p.E1602X","---","---","Delayed puberty, Hypogonadotropic hypogonadism, Autism spectrum disorder"]
["GOLIM4","3q26.2",167747641,"rs550869030","C","CCTG","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonframeshift insertion","GOLIM4: NM_001308155:exon9:c.1275 1276insCAG:p.V426delinsQV,GOLIM4: NM_014498:exon10:c.1359 1360insCAG:p.V454delinsQV","---","---","---"]
["TTC14","3q26.33",180327501,"rs118079716","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","TTC14: NM_001288582:exon12:c.C1484T:p.S495F,TTC14: NM_133462:exon12:c.C1484T:p.S495F","---","---","---"]
["MB21D2","3q29",192517421,"rs117555490","T","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","MB21D2: NM_178496:exon2:c.A230G:p.D77G","---","---","Developmental disorder"]
["PIGG","4p16.3",509839,"rs773467896","C","G",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","PIGG: NM_001289052:exon4:c.C580G:p.P194A,PIGG: NM_001127178:exon6:c.C979G:p.P327A,PIGG: NM_001289051:exon6:c.C712G:p.P238A,PIGG: NM_001289053:exon6:c.C712G:p.P238A,PIGG: NM_001289057:exon6:c.C712G:p.P238A,PIGG: NM_001345986:exon6:c.C712G:p.P238A,PIGG: NM_001345987:exon6:c.C712G:p.P238A,PIGG: NM_001345989:exon6:c.C979G:p.P327A,PIGG: NM_017733:exon6:c.C979G:p.P327A,PIGG: NM_001289055:exon7:c.C613G:p.P205A","Mental retardation, autosomal recessive 53, 616917 (3)","Intellectual disability, profound, Congenital onset, Seizures, Cerebral atrophy, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Global developmental delay, Generalized hypotonia, Hyporeflexia, Ataxia, Intrauterine growth retardation, Delayed speech and language development, Autosomal recessive inheritance, Severe muscular hypotonia, EEG with focal spikes","Intellectual disability with seizures & hypotonia, Intellectual disability cerebellar hypoplasia cerebellar ataxia and seizures, Mental retardation autosomal recessive 53"]
["HTT","4p16.3",3076603,"rs763773724","C","CCAGCAGCAGCAGCAGCAG","PASS","Heterozygotes",".",".","PASS","trialleles",2,"exonic",".","nonframeshift insertion","HTT: NM_002111:exon1:c.51 52insCAGCAGCAGCAGCAGCAG:p.F17delinsFQQQQQQ","Huntington disease, 143100 (3)|Lopes-Maciel-Rodan syndrome, 617435 (3)|{Anxiety-related personality traits}, 607834 (3)|{Obsessive-compulsive disorder}, 164230 (3)","Cerebellar atrophy, Dementia, Hyperreflexia, Neuronal loss in central nervous system, Autosomal dominant inheritance, Bradykinesia, Seizures, Rigidity, Abnormality of eye movement, Chorea, Gait ataxia, Gliosis, Personality changes, Depressivity, EEG abnormality, Abnormality of the voice, Abnormality of movement, Behavioral abnormality, Spasticity, Developmental regression, Cerebral cortical atrophy","---"]
["HTT","4p16.3",3208254,"rs753549693","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","HTT: NM_002111:exon43:c.C5750T:p.T1917M","Huntington disease, 143100 (3)|Lopes-Maciel-Rodan syndrome, 617435 (3)|{Anxiety-related personality traits}, 607834 (3)|{Obsessive-compulsive disorder}, 164230 (3)","Cerebellar atrophy, Dementia, Hyperreflexia, Neuronal loss in central nervous system, Autosomal dominant inheritance, Bradykinesia, Seizures, Rigidity, Abnormality of eye movement, Chorea, Gait ataxia, Gliosis, Personality changes, Depressivity, EEG abnormality, Abnormality of the voice, Abnormality of movement, Behavioral abnormality, Spasticity, Developmental regression, Cerebral cortical atrophy","---"]
["KIAA0232","4p16.1",6864690,"rs144840805","T","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","KIAA0232: NM_001100590:exon6:c.T2581C:p.C861R,KIAA0232: NM_014743:exon7:c.T2581C:p.C861R","---","---","Autism"]
["FAM184B","4p15.32",17711060,"rs533319746","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","FAM184B: NM_015688:exon2:c.G349A:p.E117K","---","---","Autism spectrum disorder"]
["PI4K2B","4p15.2",25265392,"rs141109382","TGAA","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonframeshift deletion","PI4K2B: NM_018323:exon7:c.1000 1002del:p.334 334del","---","---","Developmental disorder"]
["ADAMTS3","4q13.3",73188784,"rs80330149","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","ADAMTS3: NM_014243:exon6:c.G892A:p.G298R","---","Abnormality of dental morphology, Lymphopenia, Low-set ears, Abnormality of the foot, Pyloric stenosis, Erysipelas, Lymphedema, Conductive hearing impairment, Finger syndactyly, Arteriovenous malformation, Depressed nasal bridge, Reduced number of teeth, Flat face, Hypocalcemia, Mild postnatal growth retardation, External ear malformation, Horseshoe kidney, Short philtrum, Craniosynostosis, Respiratory insufficiency, Delayed eruption of teeth, Sparse axillary hair, Malabsorption, Narrow chest, Pulmonary lymphangiectasia, Camptodactyly of finger, Wide nasal bridge, Lymphangioma, Ascites, Retrognathia, Decreased antibody level in blood, Pericardial effusion, Glaucoma, Gingival overgrowth, Hypertelorism, Chylothorax, Broad forehead, Benign neoplasm of the central nervous system, Ectopic kidney, Seizures, Recurrent respiratory infections, Narrow mouth, Hydrops fetalis, Increased number of teeth, Epicanthus, Intellectual disability, Pachygyria, Splenomegaly, Lymphadenopathy","Schizophrenia, Decreased adult height association with, Hennekam syndrome"]
["PF4","4q13.3",74847664,"rs777627477","A","AG","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","frameshift insertion","PF4: NM_002619:exon1:c.6dupC:p.S3fs","---","---","---"]
["CDKL2","4q21.1",76530796,"rs186119175","C","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","CDKL2: NM_001330724:exon5:c.G565T:p.G189C,CDKL2: NM_003948:exon5:c.G565T:p.G189C","---","---","---"]
["PPM1K","4q22.1",89199528,"rs372205324","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","PPM1K: NM_152542:exon2:c.C208T:p.R70C","?Maple syrup urine disease, mild variant, 615135 (3)","Elevated plasma branched chain amino acids","Maple syrup urine disease"]
["MTTP","4q23",100503124,"rs756998920","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","MTTP: NM_001300785:exon2:c.G205A:p.V69I,MTTP: NM_000253:exon3:c.G124A:p.V42I","---","Abetalipoproteinemia, Ataxia, CNS demyelination, Retinal degeneration, Peripheral demyelination, Autosomal recessive inheritance, Acanthocytosis, Fat malabsorption, Retinopathy, Abnormality of retinal pigmentation, Abnormality of movement, Muscular hypotonia, Reduced tendon reflexes, Visual impairment, Malabsorption","Lower plasma LDL cholesterol association with, Reduced transcriptional activity, Abetalipoproteinaemia, Non-alcoholic fatty liver disease protection against association with, Triglyceride levels association with, Diabetes type 2 association with, Reduced LDL cholesterol levels association with, Microsomal triglyceride transfer protein deficiency mild, Diabetes MODY"]
["FAT4","4q28.1",126411059,"rs199797338","G","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","FAT4: NM_001291285:exon17:c.G13085T:p.G4362V,FAT4: NM_001291303:exon17:c.G13088T:p.G4363V,FAT4: NM_024582:exon17:c.G13082T:p.G4361V","Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)|Van Maldergem syndrome 2, 615546 (3)","Microtia, Camptodactyly, Growth delay, Blepharophimosis, Intellectual disability, mild, Epicanthus, Pulmonary lymphangiectasia, Hypertelorism, Lymphedema, Pericardial lymphangiectasia, Flat face, Intestinal lymphangiectasia, Irregular dentition, Autosomal recessive inheritance, Hearing impairment, Syndactyly, Depressed nasal bridge, Narrow mouth, Osteoporosis, Micrognathia, Micropenis, Scoliosis, Narrow chest, Wide anterior fontanel, Narrow forehead, Atresia of the external auditory canal, Congenital onset, Cutaneous finger syndactyly, Short palpebral fissure, Joint laxity, Wide cranial sutures, Short 4th metacarpal, Midface retrusion, Wide nasal bridge, Hypoplasia of the corpus callosum, Skeletal dysplasia, Short fourth metatarsal, Renal hypoplasia, High palate, Tracheomalacia, Feeding difficulties, Conductive hearing impairment, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Tented upper lip vermilion, Hypospadias, Generalized hypotonia, Clinodactyly, Sacral dimple, Talipes equinovarus, Sensorineural hearing impairment, Short clavicles, Ptosis, Intellectual disability, Bifid scrotum, Osteopenia, Malar flattening, Cryptorchidism, Abnormality of dental morphology, Lymphopenia, Low-set ears, Abnormality of the foot, Pyloric stenosis, Erysipelas, Finger syndactyly, Arteriovenous malformation, Reduced number of teeth, Hypocalcemia, Mild postnatal growth retardation, External ear malformation, Horseshoe kidney, Short philtrum, Craniosynostosis, Respiratory insufficiency, Delayed eruption of teeth, Sparse axillary hair, Malabsorption, Camptodactyly of finger, Lymphangioma, Ascites, Retrognathia, Decreased antibody level in blood, Pericardial effusion, Glaucoma, Gingival overgrowth, Chylothorax, Broad forehead, Benign neoplasm of the central nervous system, Ectopic kidney, Seizures, Recurrent respiratory infections, Hydrops fetalis, Increased number of teeth, Pachygyria, Splenomegaly, Lymphadenopathy","Congenital anomalies of the kidney and urinary tract, Van Maldergem syndrome 2, Hennekam syndrome, Schizophrenia, Autism spectrum disorder, Developmental disorder, Autism spectrum disorder with Van Maldergem syndrome 2, Abnormality of the nervous system, Van Maldergem syndrome, Periventricular neuronal heterotopia, Intellectual disability, Congenital heart disease, Anencephaly, Gorlin syndrome modifier"]
["PABPC4L","4q28.3",135121472,"rs192522574","C","G",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","PABPC4L: NM_001114734:exon2:c.G877C:p.V293L","---","---","Increased adult height association with"]
["TBC1D9","4q31.21",141590886,"rs781475633","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","TBC1D9: NM_015130:exon8:c.C1339T:p.R447C","---","---","Attention deficit hyperactivity disorder"]
["HHIP","4q31.21",145627827,"rs201873715","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","HHIP: NM_022475:exon5:c.G976A:p.V326I","---","---","Decreased enhancer activity, Increased Sp3 binding / decreased enhancer activity, Pituitary hormone deficiency combined, Pituitary stalk interruption syndrome"]
["POU4F2","4q31.22",147560450,"rs764871244","C","CTGG","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonframeshift insertion","POU4F2: NM_004575:exon1:c.158 159insTGG:p.A53delinsAG","---","---","---"]
["PLEKHG4B","5p15.33",140213,"rs563124958","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","PLEKHG4B: NM_052909:exon3:c.G859A:p.D287N","---","---","---"]
["TRIO","5p15.2",14482870,".","G","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","TRIO: NM_007118:exon46:c.G6645C:p.K2215N","Mental retardation, autosomal dominant 44, 617061 (3)","Delayed speech and language development, Kyphosis, Microcephaly, Aggressive behavior, 2-3 toe syndactyly, Thick eyebrow, Attention deficit hyperactivity disorder, High forehead, Seizures, Phenotypic variability, Brachydactyly, Short nose, Clinodactyly, Hypodontia, Micrognathia, Macrotia, Downslanted palpebral fissures, Tapered finger, Thick vermilion border, Recurrent infections, Autosomal dominant inheritance, Dental crowding, Synophrys, Poor speech, Upslanted palpebral fissure, Obsessive-compulsive behavior, High palate, Motor delay, Feeding difficulties","Autism spectrum disorder, Intellectual disability mild, Intellectual disability & dysmorphic features, Cerebellar ataxia, Schizophrenia, Intellectual disability, Intellectual disability & microcephaly, Autism, Mental retardation autosomal dominant 44, Neurodevelopmental disorder, Intellectual disability/developmental delay"]
["UGT3A2","5p13.2",36039677,".","C","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","UGT3A2: NM_001168316:exon4:c.G875T:p.G292V,UGT3A2: NM_174914:exon5:c.G977T:p.G326V","---","---","---"]
["EGFLAM","5p13.1",38451559,"rs140968262","A","G",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","EGFLAM: NM_182801:exon3:c.A115G:p.S39G,EGFLAM: NM_182798:exon14:c.A1984G:p.S662G,EGFLAM: NM_152403:exon19:c.A2686G:p.S896G,EGFLAM: NM_001205301:exon20:c.A2710G:p.S904G","---","---","Aortic aneurysm association with"]
["MAST4","5q12.3",66462561,".","T","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","MAST4: NM_001290227:exon26:c.T6771A:p.S2257R,MAST4: NM_001297651:exon26:c.T6972A:p.S2324R,MAST4: NM_001290226:exon27:c.T6936A:p.S2312R,MAST4: NM_015183:exon28:c.T6987A:p.S2329R,MAST4: NM_001164664:exon29:c.T7554A:p.S2518R","---","---","---"]
["ENC1","5q13.3",73931223,"rs763791861","G","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","ENC1: NM_001256576:exon2:c.C869A:p.T290N,ENC1: NM_003633:exon2:c.C1088A:p.T363N,ENC1: NM_001256574:exon3:c.C1088A:p.T363N,ENC1: NM_001256575:exon3:c.C1088A:p.T363N","---","---","---"]
["IQGAP2","5q13.3",75969360,"rs2287932","G","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","IQGAP2: NM_001285461:exon13:c.G1643T:p.R548I,IQGAP2: NM_001285462:exon13:c.G1643T:p.R548I,IQGAP2: NM_001285460:exon24:c.G3005T:p.R1002I,IQGAP2: NM_006633:exon25:c.G3155T:p.R1052I","---","---","Autism spectrum disorder, Platelet volume association with"]
["CMYA5","5q14.1",79058999,".","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","CMYA5: NM_153610:exon9:c.G11522A:p.C3841Y","---","---","Cardiomyopathy hypertrophic, Reduced anteroseptal wall thickness of the left ventricle in hypertension association with"]
["ERAP1","5q15",96112223,".","A","AT",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","frameshift insertion","ERAP1: NM_001040458:exon19:c.2702dupA:p.N901fs,ERAP1: NM_001198541:exon19:c.2702dupA:p.N901fs,ERAP1: NM_001349244:exon19:c.2702dupA:p.N901fs,ERAP1: NM_016442:exon19:c.2702dupA:p.N901fs","---","Ataxia, Blindness, Abnormal pyramidal signs, Seizures, Anorexia, Hemoptysis, Renal insufficiency, Venous thrombosis, Cranial nerve paralysis, Increased intracranial pressure, Retrobulbar optic neuritis, Pancreatitis, Pulmonary embolism, Gastrointestinal hemorrhage, Arterial thrombosis, Cataract, Hemiparesis, Developmental regression, Fever, Pleuritis, Irritability, Lymphadenopathy, Pulmonary infiltrates, Immunologic hypersensitivity, Orchitis, Keratoconjunctivitis sicca, Pericarditis, Aseptic necrosis, Abnormal blistering of the skin, Myalgia, Recurrent aphthous stomatitis, Fatigue, Papule, Subcutaneous nodule, Encephalitis, Gangrene, Acne, Confusion, Vasculitis, Memory impairment, Myocardial infarction, Cerebral ischemia, Arthritis, Endocarditis, Photophobia, Oral ulcer, Paresthesia, Meningitis, Hyperreflexia, Weight loss, Vertigo, Aortic regurgitation, Abdominal pain, Malabsorption, Pleural effusion, Abnormal myocardium morphology, Splenomegaly, Arthralgia, Retinopathy, Myositis, Glomerulopathy, Mitral regurgitation, Nausea and vomiting, Gait disturbance, Migraine","Cytomegalovirus miR-UL112-5p-mediated immunoevasion resistance to association with, Ankylosing spondylitis, Cervical carcinoma association with, Ankylosing spondylitis association with, Raised blood pressure reduced risk association with, Ankylosing spondylitis reduced risk association with, Raised blood pressure association with, Cervical carcinoma survival association with"]
["COMMD10","5q23.1",115423276,"rs747571612","C","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","COMMD10: NM_001308080:exon2:c.C82A:p.H28N,COMMD10: NM_016144:exon2:c.C124A:p.H42N","---","---","---"]
["HSD17B4","5q23.1",118862832,"rs35281104","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","HSD17B4: NM_001199292:exon19:c.G1631A:p.R544H,HSD17B4: NM_000414:exon20:c.G1685A:p.R562H,HSD17B4: NM_001292028:exon20:c.G1265A:p.R422H,HSD17B4: NM_001199291:exon21:c.G1760A:p.R587H,HSD17B4: NM_001292027:exon21:c.G1613A:p.R538H","D-bifunctional protein deficiency, 261515 (3)|Perrault syndrome 1, 233400 (3)","Talipes equinovarus, Increased circulating gonadotropin level, Cerebellar atrophy, Areflexia, Phenotypic variability, Nystagmus, Gait ataxia, Cognitive impairment, Scoliosis, Spastic diplegia, Osteoporosis, Dysarthria, Hyporeflexia, Limited extraocular movements, Autosomal recessive inheritance, Primary amenorrhea, Gonadal dysgenesis, Pes cavus, Sensorineural hearing impairment, Motor delay, High palate, Short stature, Sensorimotor neuropathy, Global developmental delay, Neonatal hypotonia, Pectus excavatum, Visual loss, Primary adrenal insufficiency, Decreased nerve conduction velocity, Retrognathia, Delayed cranial suture closure, Long philtrum, Micrognathia, Delayed skeletal maturation, Osteopenia, Undetectable electroretinogram, Epicanthus, Hepatic steatosis, Fetal ascites, Ventriculomegaly, Polymicrogyria, Polyhydramnios, Seizures, Failure to thrive, Cerebral hypoplasia, Decreased muscle mass, High forehead, Generalized cerebral atrophy/hypoplasia, Cholestasis, Cerebral dysmyelination, Depressed nasal bridge, Frontal bossing, Thoracic hypoplasia, Aplasia/Hypoplasia of the cerebellum, Hypertelorism, Large fontanelles, Macrocephaly, Hepatomegaly, Scaphocephaly, Abnormal facial shape, Corpus callosum atrophy, Cortical dysplasia, Infantile onset, Split hand, Hypoplasia of the corpus callosum, Calcific stippling, Renal cyst, Visual impairment, Bile duct proliferation, Hammertoe, Strabismus, Elevated hepatic transaminases, Feeding difficulties in infancy, Low-set ears, Upslanted palpebral fissure, Gliosis","D-bifunctional protein deficiency, Perrault syndrome, Perrault syndrome type II, Premature ovarian failure, Neuropathy, Hypotony seizures and suspicion of muscular dystrophy, D-bifunctional protein deficiency with male infertility, D-bifunctional protein deficiency/Perrault syndrome type 1, Perrault syndrome with neurologic features, Peroxisome biogenesis disorder, Increased activity"]
["MEGF10","5q23.2",126758444,"rs182243856","G","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","MEGF10: NM_001256545:exon13:c.G1673T:p.R558L,MEGF10: NM_001308121:exon13:c.G1673T:p.R558L,MEGF10: NM_001308119:exon14:c.G1673T:p.R558L,MEGF10: NM_032446:exon14:c.G1673T:p.R558L","Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)|Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)","Pectus excavatum, Restrictive ventilatory defect, Cleft palate, Failure to thrive, Hyporeflexia, Congenital onset, High palate, Neonatal hypotonia, Decreased fetal movement, Autosomal recessive inheritance, Motor delay, Areflexia, Facial palsy, Respiratory distress, Nasal speech, Seizures, Respiratory failure, Talipes equinovarus, Variable expressivity, Difficulty running, Camptodactyly of finger, Poor head control, Dysphagia, Diaphragmatic paralysis, Scoliosis","EMARDD, Minicore myopathy, Muscular dystrophy limb girdle, Myopathy areflexia respiratory distress and dysphagia, Muscle weakness, Hypotonia & poor ventilation"]
["EGR1","5q31.2",137803138,"rs201213506","C","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","EGR1: NM_001964:exon2:c.C1000A:p.H334N","---","---","Intellectual disability"]
["NRG2","5q31.2",139231402,"rs373912301","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","NRG2: NM_001184935:exon7:c.C1361T:p.T454M,NRG2: NM_004883:exon9:c.C1559T:p.T520M,NRG2: NM_013981:exon9:c.C1541T:p.T514M,NRG2: NM_013982:exon10:c.C1583T:p.T528M,NRG2: NM_013983:exon10:c.C1565T:p.T522M","---","---","Mental illness severe, Autism spectrum disorder"]
["SLC4A9","5q31.3",139745590,"rs749285211","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","SLC4A9: NM_001258426:exon13:c.C1840T:p.R614C,SLC4A9: NM_001258428:exon13:c.C1954T:p.R652C,SLC4A9: NM_031467:exon13:c.C1882T:p.R628C","---","---","---"]
["PCDHGA4","5q31.3",140735860,"rs372920279","GT","G",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","frameshift deletion","PCDHGA4: NM_018917:exon1:c.1187delT:p.V396fs,PCDHGA4: NM_032053:exon1:c.1187delT:p.V396fs","---","---","Dyslexia association with"]
["PPP2R2B","5q32",146258290,"rs57408722","A","AGCTGCTGCTGCTGCTGCTGCT","PASS","trialleles","PASS","trialleles",".",".",2,"exonic",".","nonframeshift insertion","PPP2R2B: NM_181675:exon1:c.57 58insAGCAGCAGCAGCAGCAGCAGC:p.C20delinsSSSSSSSC","Spinocerebellar ataxia 12, 604326 (3)","Dysarthria, Parkinsonism, Cerebral cortical atrophy, Head tremor, Delusions, Cerebellar atrophy, Action tremor, Dysdiadochokinesis, Dementia, Autosomal dominant inheritance, Abnormality of eye movement, Sensorimotor neuropathy, Facial myokymia, Hyperreflexia, Axial dystonia, Anxiety, Depressivity, Dysmetria, Progressive cerebellar ataxia","Bile-duct dilatation, Intellectual disability"]
["PPP2R2B","5q32",146258290,"rs57408722","A","AGCTGCTGCTGCTGCTGCTGCTGCT",".",".","PASS","trialleles",".",".",1,"exonic",".","nonframeshift insertion","PPP2R2B: NM_181675:exon1:c.57 58insAGCAGCAGCAGCAGCAGCAGCAGC:p.C20delinsSSSSSSSSC","Spinocerebellar ataxia 12, 604326 (3)","Dysarthria, Parkinsonism, Cerebral cortical atrophy, Head tremor, Delusions, Cerebellar atrophy, Action tremor, Dysdiadochokinesis, Dementia, Autosomal dominant inheritance, Abnormality of eye movement, Sensorimotor neuropathy, Facial myokymia, Hyperreflexia, Axial dystonia, Anxiety, Depressivity, Dysmetria, Progressive cerebellar ataxia","Bile-duct dilatation, Intellectual disability"]
["HTR4","5q32",147889307,"rs192327488","A","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","HTR4: NM_001040169:exon5:c.T788A:p.I263N,HTR4: NM_001040172:exon5:c.T788A:p.I263N,HTR4: NM_001040173:exon5:c.T788A:p.I263N,HTR4: NM_001286410:exon5:c.T788A:p.I263N,HTR4: NM_199453:exon5:c.T788A:p.I263N,HTR4: NM_000870:exon6:c.T788A:p.I263N","---","---","---"]
["ZNF300","5q33.1",150282710,"rs72332188","TTCA","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonframeshift deletion","ZNF300: NM_052860:exon3:c.5 7del:p.2 3del,ZNF300: NM_001172831:exon4:c.53 55del:p.18 19del","---","---","---"]
["FAT2","5q33.1",150928934,"rs10044879","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","FAT2: NM_001447:exon8:c.G4711A:p.G1571S","Spinocerebellar ataxia 45, 617769 (3)","---","Spinocerebellar ataxia, Congenital heart disease, Restless legs syndrome, Autism spectrum disorder"]
["FAXDC2","5q33.2",154214237,"rs200222935","C","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","FAXDC2: NM_032385:exon4:c.G192T:p.W64C","---","---","Schizophrenia"]
["HAVCR2","5q33.3",156533787,"rs184868814","T","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","HAVCR2: NM_032782:exon2:c.A245G:p.Y82C","---","---","HIV 1 susceptibility to association with"]
["LOC101928093","5q35.1",172185269,"rs116955517","T","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","LOC101928093: NM_001287812:exon2:c.T4G:p.L2V",".",".","."]
["CDHR2","5q35.2",176004490,"rs34827556","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","CDHR2: NM_001171976:exon13:c.G1285A:p.V429I,CDHR2: NM_017675:exon13:c.G1285A:p.V429I","---","---","Autism spectrum disorder"]
["SLC34A1","5q35.3",176824007,"rs34044544","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","SLC34A1: NM_003052:exon12:c.G1348A:p.G450S","?Fanconi renotubular syndrome 2, 613388 (3)|Hypercalcemia, infantile, 2, 616963 (3)|Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)","Nephrolithiasis, Osteoporosis, Autosomal dominant inheritance, Osteopenia, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphaturia, Renal phosphate wasting, Hypercalciuria, Generalized aminoaciduria, Elevated alkaline phosphatase of bone origin, Renal insufficiency, Proximal tubulopathy, Muscle weakness, Glycosuria, Autosomal recessive inheritance, Short stature, Rickets, Medullary nephrocalcinosis, Failure to thrive, Muscular hypotonia, Hypercalcemia, Polyuria","Nephrolithiasis, Hypophosphataemic nephrolithiasis/osteoporosis 1/Fanconi syndrome, Osteoporosis with hypophosphataemia, Hypercalcaemia idiopathic infantile, Nephrocalcinosis, Hypercalcaemia infantile, Kidney stones association with, Hypophosphataemia & nephrocalcinosis, Nephrocalcinosis and hypercalcaemia"]
["OR2V1","5q35.3",180551775,"rs10035767","T","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","OR2V1: NM_001258283:exon1:c.A530G:p.H177R","---","---","---"]
["OR2V2","5q35.3",180582031,"rs770900808","CCG","C",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","frameshift deletion","OR2V2: NM_206880:exon1:c.90 91del:p.S30fs","---","---","---"]
["OR2V2","5q35.3",180582035,"rs745863628","G","GCA",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","frameshift insertion","OR2V2: NM_206880:exon1:c.93 94insCA:p.V31fs","---","---","---"]
["MYLK4","6p25.2",2678599,"rs371937683","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","MYLK4: NM_001012418:exon10:c.G895A:p.G299S,MYLK4: NM_001347872:exon10:c.G1063A:p.G355S","---","---","---"]
["CDKAL1","6p22.3",21000533,"rs145084016","G","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","CDKAL1: NM_017774:exon11:c.G985A:p.V329I","{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 ","---","Hyperinsulism"]
["DCDC2","6p22.3",24278353,"rs760375899","GTCT","G","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonframeshift deletion","DCDC2: NM_016356:exon7:c.843 845del:p.281 282del,DCDC2: NM_001195610:exon8:c.843 845del:p.281 282del","?Deafness, autosomal recessive 66, 610212 (3)|Nephronophthisis 19, 616217 (3)|Sclerosing cholangitis, neonatal, 617394 (3)","Sensorineural hearing impairment, Autosomal recessive inheritance, Elevated hepatic transaminases, Infantile onset, Progressive, Splenomegaly, Hepatomegaly, Biliary cirrhosis, Pruritus, Sclerosing cholangitis, Jaundice, Portal hypertension, Cirrhosis, Nephronophthisis, Cholestasis, Bile duct proliferation, Stage 5 chronic kidney disease, Hepatic fibrosis","DFNB66 deafness, Sclerosing cholangitis neonatal, Respiratory disease aspirin-exacerbated, Nephronophthisis-related ciliopathy"]
["ALDH5A1","6p22.3",24502785,"rs201357945","T","C","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","ALDH5A1: NM_001080:exon2:c.T389C:p.L130S,ALDH5A1: NM_170740:exon2:c.T389C:p.L130S","Succinic semialdehyde dehydrogenase deficiency, 271980 (3)","Status epilepticus, Intellectual disability, Behavioral abnormality, Global developmental delay, Generalized myoclonic seizures, Muscular hypotonia, Abnormality of metabolism/homeostasis, Ataxia, Generalized tonic-clonic seizures, Autosomal recessive inheritance, Generalized hypotonia, Autism, Anxiety, Self-injurious behavior, EEG abnormality, Psychosis, Hyporeflexia, Phenotypic variability, Hallucinations, Aggressive behavior, Motor delay, Abnormality of eye movement, Absence seizures, Infantile onset, Hyperkinesis, Delayed speech and language development, Hyperactivity","Succinic semialdehyde dehydrogenase deficiency, Reduced enzyme activity, Impaired cognitive function association with, SSADH deficiency with D-2-hydroxyglutaric aciduria, SSADH deficiency & incomplete WAGR syndrome with obesity, Autism spectrum disorder, Schizophrenia"]
["RSPH9","6p21.1",43634224,".","CCT","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","frameshift deletion","RSPH9: NM_001193341:exon5:c.690 691del:p.P230fs","Ciliary dyskinesia, primary, 12, 612650 (3)","Bronchiectasis, Nonmotile sperm, Recurrent respiratory infections, Exercise intolerance, Chronic rhinitis, Autosomal recessive inheritance, Short stature, Chronic sinusitis, Ciliary dyskinesia, Abnormal central microtubular pair morphology of respiratory motile cilia","Primary ciliary dyskinesia"]
["COL19A1","6q13",70916893,"rs202027541","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","COL19A1: NM_001858:exon51:c.G3344A:p.G1115D","---","---","Amyotrophic lateral sclerosis"]
["UBE3D","6q14.1",83728788,"rs771501277","A","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","UBE3D: NM_001350603:exon7:c.T353A:p.F118Y,UBE3D: NM_001304437:exon8:c.T818A:p.F273Y,UBE3D: NM_198920:exon8:c.T914A:p.F305Y,UBE3D: NM_001350602:exon9:c.T818A:p.F273Y,UBE3D: NM_001350604:exon9:c.T353A:p.F118Y","---","---","Macular degeneration age related reduced risk"]
["NT5E","6q14.3",86201773,"rs773781046","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","NT5E: NM_001204813:exon7:c.G1289A:p.R430Q,NT5E: NM_002526:exon8:c.G1439A:p.R480Q","Calcification of joints and arteries, 211800 (3)","Ectopic ossification, Arterial calcification, Abnormal joint morphology, Abnormality of the vertebral column, Autosomal recessive inheritance, Arterial occlusion, Arterial tortuosity, Coronary artery calcification, Decreased serum creatinine","Arterial & joint calcifications symptomatic, Aortic valve calcification association with, Arterial & joint calcifications"]
["SLC22A16","6q21",110763731,"rs140000057","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","SLC22A16: NM_033125:exon4:c.G899A:p.R300Q","---","---","Breast cancer early-onset"]
["ROS1","6q22.1",117718187,"rs55959124","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","ROS1: NM_002944:exon7:c.C670T:p.P224S","---","---","Myocardial infarction association with, Cutaneous melanoma & multiple primary cancers, Breast cancer early-onset, Intellectual disability, Autism"]
["TMEM200A","6q23.1",130761801,".","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","TMEM200A: NM_001258276:exon2:c.G234A:p.M78I,TMEM200A: NM_001258278:exon2:c.G234A:p.M78I,TMEM200A: NM_052913:exon2:c.G234A:p.M78I,TMEM200A: NM_001258277:exon3:c.G234A:p.M78I","---","---","---"]
["PLEKHG1","6q25.1",151004906,"rs117511150","C","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","PLEKHG1: NM_001329798:exon1:c.C8T:p.P3L","---","---","---"]
["HGC6.3","6q27",168376967,"rs764473665","T","G","PASS","Homozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","HGC6.3: NM_001129895:exon1:c.A366C:p.Q122H",".",".","."]
["HGC6.3","6q27",168376977,"rs113501624","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","HGC6.3: NM_001129895:exon1:c.C356T:p.S119F",".",".","."]
["HGC6.3","6q27",168376987,"rs71573433","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","HGC6.3: NM_001129895:exon1:c.C346T:p.P116S",".",".","."]
["HGC6.3","6q27",168377229,"rs776970424","A","G","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","HGC6.3: NM_001129895:exon1:c.T104C:p.F35S",".",".","."]
["HGC6.3","6q27",168377232,"rs202004345","A","G","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","HGC6.3: NM_001129895:exon1:c.T101C:p.V34A",".",".","."]
["HGC6.3","6q27",168377245,"rs371731947","T","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","HGC6.3: NM_001129895:exon1:c.A88G:p.M30V",".",".","."]
["HGC6.3","6q27",168377248,"rs375057153","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","HGC6.3: NM_001129895:exon1:c.G85A:p.G29R",".",".","."]
["FAM120B","6q27",170627695,".","A","ACCCTGAACCCAGGCAAGAAGTTCCCATGTGTACAGG","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonframeshift insertion","FAM120B: NM_001286379:exon2:c.1253 1254insCCCTGAACCCAGGCAAGAAGTTCCCATGTGTACAGG:p.D418delinsDPEPRQEVPMCTG,FAM120B: NM_001286380:exon2:c.1286 1287insCCCTGAACCCAGGCAAGAAGTTCCCATGTGTACAGG:p.D429delinsDPEPRQEVPMCTG,FAM120B: NM_032448:exon2:c.1217 1218insCCCTGAACCCAGGCAAGAAGTTCCCATGTGTACAGG:p.D406delinsDPEPRQEVPMCTG","---","---","Autism spectrum disorder"]
["SDK1","7p22.2",4002355,"rs202020244","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","SDK1: NM_152744:exon9:c.G1301A:p.R434Q","---","---","Autism spectrum disorder"]
["SCIN","7p21.3",12610415,"rs544250149","G","T",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","SCIN: NM_001112706:exon1:c.G3T:p.M1I","---","---","---"]
["SCIN","7p21.3",12689137,"rs76638693","G","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","SCIN: NM_033128:exon12:c.G1186A:p.D396N,SCIN: NM_001112706:exon14:c.G1927A:p.D643N","---","---","---"]
["BBS9","7p14.3",33427727,"rs117543061","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","BBS9: NM_001348044:exon15:c.G1615A:p.D539N,BBS9: NM_001348046:exon16:c.G1720A:p.D574N,BBS9: NM_001348040:exon17:c.G1966A:p.D656N,BBS9: NM_001348045:exon17:c.G1720A:p.D574N,BBS9: NM_014451:exon17:c.G1966A:p.D656N,BBS9: NM_001033604:exon18:c.G1981A:p.D661N,BBS9: NM_001033605:exon18:c.G2071A:p.D691N,BBS9: NM_001348037:exon18:c.G1720A:p.D574N,BBS9: NM_001348039:exon18:c.G1708A:p.D570N,BBS9: NM_001348042:exon18:c.G1951A:p.D651N,BBS9: NM_001348036:exon19:c.G2086A:p.D696N,BBS9: NM_001348038:exon19:c.G1813A:p.D605N,BBS9: NM_001348041:exon19:c.G2086A:p.D696N,BBS9: NM_001348043:exon19:c.G2086A:p.D696N,BBS9: NM_198428:exon19:c.G2086A:p.D696N","Bardet-Biedl syndrome 9, 615986 (3)","Intellectual disability, Autosomal recessive inheritance, Variable expressivity, Obesity, Polydactyly, Rod-cone dystrophy, Hypoplasia of the ovary, Finger syndactyly, Hearing impairment, Skeletal muscle atrophy, Hypogonadism, Downslanted palpebral fissures, Generalized hirsutism, Nephrotic syndrome, Cryptorchidism, Nystagmus, Neurological speech impairment, Pigmentary retinopathy, Hepatic fibrosis, Postaxial hand polydactyly, Short neck, Medial flaring of the eyebrow, Abnormal electroretinogram, Low-set, posteriorly rotated ears, Hypertension, Multicystic kidney dysplasia, Short stature, Hypoplasia of penis, Prominent nasal bridge","Bardet-Biedl syndrome, Obesity, Macular dystrophy, Nephronophthisis-related ciliopathy, Leber congenital amaurosis & Bardet-Biedl syndrome, Bardet-Biedl syndrome modifier of"]
["PGAM2","7p13",44104839,"rs77938727","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","PGAM2: NM_000290:exon1:c.G290A:p.G97D","Glycogen storage disease X, 261670 (3)","Renal insufficiency, Exercise intolerance, Rhabdomyolysis, Elevated serum creatine phosphokinase, Exercise-induced myalgia, Myoglobinuria, Autosomal recessive inheritance, Myopathy, Exercise-induced muscle cramps","Rhabdomyolysis, Phosphoglycerate mutase deficiency, Phosphoglycerate mutase deficiency partial"]
["EGFR","7p11.2",55260523,".","T","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","EGFR: NM_001346941:exon16:c.T1889C:p.V630A,EGFR: NM_001346897:exon21:c.T2555C:p.V852A,EGFR: NM_001346899:exon21:c.T2555C:p.V852A,EGFR: NM_001346898:exon22:c.T2690C:p.V897A,EGFR: NM_001346900:exon22:c.T2531C:p.V844A,EGFR: NM_005228:exon22:c.T2690C:p.V897A","?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)|Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)|Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)|{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)","Autosomal recessive inheritance, Recurrent pneumonia, Pustule, Hypertension, Failure to thrive, Epidermal acanthosis, Recurrent bronchiolitis, Long eyelashes, Vomiting, Papule, Alveolar cell carcinoma","Glioblastoma risk association with, Ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction, Inflammatory skin and bowel disease neonatal, Lhermitte-Duclos disease, Epithelial inflammation, Autism spectrum disorder, Altered transmembrane signaling, Breast cancer, Cancer, Brain arteriovenous malformation, Hypogonadotropic hypogonadism, Lung cancer susceptibility to, Lung cancer, Lung cancer association with, Squamous cell carcinoma of head & neck, Reduced transcriptional response to hypoxia, Kallmann syndrome, Colorectal cancer, Adenocarcinoma, Breast cancer association with, Bladder cancer association with"]
["LANCL2","7p11.2",55493047,".","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","LANCL2: NM_018697:exon7:c.C1109T:p.T370I","---","---","---"]
["VOPP1","7p11.2",55605282,"rs187586445","T","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","VOPP1: NM_001321242:exon1:c.A43G:p.T15A","---","---","---"]
["SUMF2","7p11.2",56146177,"rs185755016","A","G",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","SUMF2: NM_001042470:exon5:c.A602G:p.N201S,SUMF2: NM_001042469:exon7:c.A809G:p.N270S,SUMF2: NM_001146333:exon7:c.A533G:p.N178S,SUMF2: NM_015411:exon8:c.A854G:p.N285S","---","---","Intellectual disability autosomal recessive"]
["VKORC1L1","7q11.21",65419353,"rs368976580","T","TTTATTA",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonframeshift insertion","VKORC1L1: NM_001284342:exon2:c.487 488insTTATTA:p.F163delinsFII","---","---","---"]
["SAMD9","7q21.2",92735316,"rs746748986","T","A",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","SAMD9: NM_001193307:exon2:c.A95T:p.H32L,SAMD9: NM_017654:exon3:c.A95T:p.H32L","MIRAGE syndrome, 617053 (3)|Tumoral calcinosis, familial, normophosphatemic, 610455 (3)","Aspiration pneumonia, Intrauterine growth retardation, Hypergonadotropic hypogonadism, Hypoglycemia, Overlapping fingers, Hypoplastic spleen, Talipes equinovarus, Rocker bottom foot, Intracranial hemorrhage, Motor delay, Gastroesophageal reflux, Scoliosis, Hyponatremia, Microphallus, Hypospadias, Recurrent bacterial infections, Myelodysplasia, Hyperkalemia, Autosomal dominant inheritance, Adrenal insufficiency, Esophageal stricture, Patent ductus arteriosus, Decreased body weight, Recurrent urinary tract infections, Short stature, Achalasia, Chronic diarrhea, Radial club hand, Cryptorchidism, Hydrocephalus, Decreased testicular size, Leukopenia, Seizures, Sepsis, Global developmental delay, Paraplegia, Petechiae, Autosomal recessive inheritance, Gingivitis, Conjunctivitis, Abnormality of the skin, Calcinosis","MIRAGE syndrome, Tumoural calcinosis normophosphataemic, Bone marrow failure, Myelodysplastic syndrome, Myelodysplasia & leukaemia syndrome with monosomy 7"]
["ZAN","7q22.1",100348316,"rs769543736","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","unknown","UNKNOWN","---","---","Autism spectrum disorder, Inflammatory bowel disease association with, Hearing loss adult-onset"]
["MUC12","7q22.1",100656386,"rs769891317","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","MUC12: NM_001164462:exon8:c.G15601A:p.G5201S","---","---","---"]
["MOGAT3","7q22.1",100843714,"rs149668601","A","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","stopgain","MOGAT3: NM_001287147:exon2:c.T192A:p.Y64X,MOGAT3: NM_178176:exon2:c.T192A:p.Y64X","---","---","---"]
["MKLN1","7q32.3",130827699,"rs79254850","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","MKLN1: NM_001145354:exon2:c.C28T:p.R10W","---","---","---"]
["OR2A12","7q35",143792499,"rs368735311","CT","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","frameshift deletion","OR2A12: NM_001004135:exon1:c.300delT:p.T100fs","---","---","Intellectual disability autosomal recessive"]
["ABCB8","7q36.1",150732812,"rs17545756","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ABCB8: NM_001282293:exon5:c.C646T:p.R216C,ABCB8: NM_001282292:exon6:c.C910T:p.R304C,ABCB8: NM_007188:exon6:c.C910T:p.R304C,ABCB8: NM_001282291:exon7:c.C961T:p.R321C","---","---","Autoimmunity"]
["KMT2C","7q36.1",151846114,"rs199880787","A","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","KMT2C: NM_170606:exon52:c.T12898C:p.S4300P","Kleefstra syndrome 2, 617768 (3)","---","Congenital heart disease, Intellectual disability / developmental delay, Autism, Autism spectrum disorder, Developmental disorder, Amyotrophic lateral sclerosis, Gastric cancer increased risk association with, Kleefstra syndrome, Bipolar disorder, Intellectual disability, Schizophrenia, Colorectal cancer and acute myeloid leukaemia, Nasopharyngeal carcinoma, Ovarian cancer"]
["MNX1","7q36.3",156802643,"rs548755417","A","AGCGGCGGCG",".",".","PASS","trialleles",".",".",1,"exonic",".","nonframeshift insertion","MNX1: NM_005515:exon1:c.401 402insCGCCGCCGC:p.A134delinsAAAA","Currarino syndrome, 176450 (3)","Presacral teratoma, Tethered cord, Urinary incontinence, Gastrointestinal obstruction, Autosomal dominant inheritance, Global developmental delay, Vesicoureteral reflux, Anal atresia, Rectovaginal fistula, Septate vagina, Perianal abscess, Anal fistula, Recurrent urinary tract infections, Bifid sacrum, Horseshoe kidney, Hemisacrum, Chronic constipation, Neurogenic bladder, Abdominal distention, Incomplete penetrance, Bicornuate uterus, Anterior sacral meningocele, Anal stenosis, Arteriovenous malformation, Male pseudohermaphroditism, Hypospadias, Aplasia/Hypoplasia of the sacrum, Hypoplasia of penis, Sacrococcygeal teratoma, Lower limb asymmetry, Bifid scrotum, Abnormal intestine morphology","Currarino syndrome, Sacral agenesis, Diabetes permanent neonatal, Diabetes MODY, Multiple malformations"]
["DLGAP2","8p23.3",1497200,"rs754114605","A","G",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","DLGAP2: NM_001346810:exon5:c.A581G:p.D194G","---","---","Schizophrenia and autism spectrum disorder, Autism spectrum disorder"]
["FGF17","8p21.3",21905677,".","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","FGF17: NM_001304478:exon5:c.G535A:p.E179K,FGF17: NM_003867:exon5:c.G568A:p.E190K","Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3)","Delayed puberty, Autosomal dominant inheritance, Hypogonadism, Osteoporosis, Osteopenia, Hypogonadotrophic hypogonadism, Micropenis, Autosomal recessive inheritance, Primary amenorrhea, Sparse axillary hair, Cryptorchidism, Gynecomastia, Infertility, Sparse pubic hair, Decreased testicular size, Depressivity, Non-obstructive azoospermia, Abnormality of body height, Absence of pubertal development, Hypoplasia of the ovary, Anxiety, Breast hypoplasia, Impotence, Sparse body hair, Delayed skeletal maturation, Wide intermamillary distance, Secondary amenorrhea, Increased female libido, Absence of secondary sex characteristics, Male hypogonadism, Abnormality of the voice, Generalized joint laxity, Hypoplasia of the uterus, Female hypogonadism, Hypertelorism, Decreased testosterone in males, Abnormality of the dentition, Cleft palate, Camptodactyly, Depressed nasal bridge, Congenital sensorineural hearing impairment, Eunuchoid habitus, Visual impairment, Gait disturbance, Hyposmia, Skeletal dysplasia, Dyspareunia, Renal agenesis, Anosmia, Ataxia, Abnormality of cardiovascular system morphology, Reduced bone mineral density, Tremor, Seizures, Sensorineural hearing impairment, Abnormality of color vision, Decreased fertility, Nystagmus, Dysarthria, Muscular hypotonia, Ptosis, Reduced number of teeth, Recurrent fractures, Muscle weakness, Hypothalamic gonadotropin-releasing hormone deficiency, Erectile abnormalities, Obesity, Anterior hypopituitarism, Pes cavus, Pes planus, Paraplegia, Ichthyosis, Bimanual synkinesia","Kallmann syndrome, Hypogonadotropic hypogonadism idiopathic"]
["HR","8p21.3",21980023,"rs138941448","C","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","HR: NM_005144:exon8:c.G2104T:p.G702W,HR: NM_018411:exon8:c.G2104T:p.G702W","Alopecia universalis, 203655 (3)|Atrichia with papular lesions, 209500 (3)|Hypotrichosis 4, 146550 (3)","Sparse or absent eyelashes, Coarse hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Absent eyelashes, Absent eyebrow, Alopecia universalis, Alopecia areata, Sparse eyelashes, Hypotrichosis, Sparse body hair, Pili torti, Autosomal dominant inheritance, Sparse and thin eyebrow, Autosomal recessive inheritance, Generalized papillary lesions, Abnormality of metabolism/homeostasis","Atrichia with papular lesions, Alopecia universalis, Congenital heart disease, Congenital atrichia, Reduced corepressor activity, Alopecia universalis and limb deformities"]
["POLR3D","8p21.3",22106568,"rs552734456","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","POLR3D: NM_001722:exon7:c.C667T:p.P223S","---","---","---"]
["KAT6A","8p11.21",41794796,"rs201760077","ATCT","A",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonframeshift deletion","KAT6A: NM_006766:exon16:c.3327 3329del:p.1109 1110del","Mental retardation, autosomal dominant 32, 616268 (3)","Prominent nasal bridge, Ptosis, Seizures, Global developmental delay, Neonatal respiratory distress, Patent ductus arteriosus, Feeding difficulties, Abnormality of the dentition, Cortical visual impairment, Microcephaly, Atrial septal defect, Microretrognathia, Thin upper lip vermilion, Autosomal dominant inheritance, Plagiocephaly, Respiratory distress, Strabismus, Posteriorly rotated ears, Low-set ears, Ventricular septal defect, Broad nasal tip, Intellectual disability, Neonatal hypotonia, Craniosynostosis, Downturned corners of mouth, Epicanthus, Muscular hypotonia, Narrow forehead","Microcephaly & developmental delay, Developmental disorder, Intellectual disability/developmental delay, Neutropaenia congenital and intellectual disability, Hypotonia intellectual disability feeding/oromotor difficulties microcephaly/craniosynostosis cardiac & facial defects, Mental retardation autosomal dominant, Congenital heart disease, Global developmental delay, Developmental delay cardiac defects facial dysmorphia and food allergy, Neurodevelopmental disorder, Microcephaly developmental delay & craniofacial dysmorphism, Craniosynostosis, Intellectual disability, Autism spectrum disorder, Developmental delay speech delay distinct facial features & feeding difficulties"]
["PRKDC","8q11.21",48815353,"rs187813872","A","G",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","unknown","UNKNOWN","Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)","Hypoplasia of the corpus callosum, Recurrent lower respiratory tract infections, Prominent forehead, Short chin, Cerebellar vermis hypoplasia, Intrauterine growth retardation, Low-set ears, Severe combined immunodeficiency, Thin upper lip vermilion, Infantile onset, Autosomal recessive inheritance, Visual impairment, Seizures, Recurrent aphthous stomatitis, Wide nasal bridge, Micropenis, Sensorineural hearing impairment, Deeply set eye, Long philtrum, CNS hypomyelination, Cortical gyral simplification, Overlapping fingers, Pachygyria, Brain atrophy, Microcephaly","Immunodeficiency common variable, Immunodeficiency severe combined, Differentiated thyroid carcinoma association with, Limb craniofacial & heart defects, Colorectal cancer non-polyposis"]
["SLC25A32","8q22.3",104412688,"rs141856398","T","C",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","SLC25A32: NM_030780:exon7:c.A899G:p.Y300C","?Exercise intolerance, riboflavin-responsive, 616839 (3)","Autosomal recessive inheritance, Ragged-red muscle fibers, Exercise intolerance","Exercise intolerance riboflavin-responsive"]
["MROH5","8q24.3",142445249,"rs200666131","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","unknown","UNKNOWN","---","---","Autism"]
["RECQL4","8q24.3",145739011,"rs184775551","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"exonic",".","nonsynonymous SNV","RECQL4: NM_004260:exon13:c.G2144A:p.R715Q","Baller-Gerold syndrome, 218600 (3)|RAPADILINO syndrome, 266280 (3)|Rothmund-Thomson syndrome, 268400 (3)","Hypogonadism, Cryptorchidism, Abnormality of the nail, Anteriorly placed anus, Forearm reduction defects, Squamous cell carcinoma, Microcornea, Premature graying of hair, Autosomal recessive inheritance, Small hand, Intellectual disability, Telangiectasia, Annular pancreas, Mandibular prognathia, Short palm, Increased number of teeth, Basal cell carcinoma, Short thumb, Strabismus, Talipes equinovarus, Microphthalmia, Congenital hip dislocation, Microdontia, Poikiloderma, Short foot, Dermal atrophy, Juvenile zonular cataracts, Delayed eruption of teeth, Frontal bossing, Agenesis of permanent teeth, Alopecia, Osteosarcoma, Cutaneous photosensitivity, Kyphoscoliosis, Glaucoma, Osteoporosis, Short stature, Short nose, Sparse hair, Polymicrogyria, High palate, Micrognathia, Hypertelorism, Rib fusion, Low-set, posteriorly rotated ears, Carpal bone aplasia, Patellar hypoplasia, Brachyturricephaly, Lambdoidal craniosynostosis, Abnormal heart morphology, Spina bifida occulta, Choanal stenosis, Narrow mouth, Hypoplasia of the radius, Prominent nasal bridge, Midface capillary hemangioma, Aphalangy of the hands, Coronal craniosynostosis, Absent radius, Downslanted palpebral fissures, Underdeveloped nasal alae, Aplasia of metacarpal bones, Rectovaginal fistula, Myopia, Optic atrophy, Sagittal craniosynostosis, Anomalous splenoportal venous system, Hydrocephalus, Flat forehead, Scoliosis, Agenesis of corpus callosum, Abnormality of the kidney, Ulnar bowing, Perineal fistula, Carpal synostosis, Short humerus, Seizures, Abnormal vertebral morphology, Limited elbow movement, Hypoplasia of the ulna, Epicanthus, Aplasia/Hypoplasia of the thumb, Cleft palate, Bicoronal synostosis, Conductive hearing impairment, Limited shoulder movement, Bifid uvula, Anal atresia, Hydronephrosis, Urogenital fistula, Intrauterine growth retardation, Malabsorption, Broad forehead, Abnormality of the metacarpal bones, Narrow nasal bridge, Narrow face, Proptosis, Bowing of the long bones, Abnormal localization of kidney, Failure to thrive in infancy, Vesicoureteral reflux, Abnormal cardiac septum morphology, Abnormality of the carpal bones, Lymphoma, Aplasia/Hypoplasia of the radius, Large fontanelles, Nystagmus, Hand oligodactyly, Aplasia/Hypoplasia of the patella, Hypotelorism, Long face, High, narrow palate, Mottled pigmentation, Diarrhea, Absent thumb, Slender nose, Joint dislocation, Short chin, Blepharophimosis, Stiff interphalangeal joints, Hearing impairment, Palmoplantar keratoderma, Nail dystrophy, Hypoplasia of teeth, Absent eyebrow, Myelodysplasia, Skeletal dysplasia, Anemia, Prematurely aged appearance, Concave nasal ridge, Brittle hair, Growth delay, Hypotrichosis, Osteopenia, Cataract, Nausea and vomiting, Absent eyelashes, Neutropenia","Rothmund-Thomson syndrome, Craniosynostosis, Breast cancer, RAPADILINO syndrome, Baller-Gerold syndrome, Rothmund-Thomson / RAPADILINO syndrome, Immunodeficiency primary, Prostate cancer, Baller-Gerold syndrome / Rothmund-Thomson syndrome / RAPADILINO, Pancreatic ductal adenocarcinoma, Acrodermatitis enteropathica phenotype modifier, Rothmund-Thomson syndrome with pili annulati, Colorectal cancer, Ovarian carcinoma/thymus"]
["KANK1","9p24.3",712040,"rs141509675","C","CAGCTGT",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonframeshift insertion","KANK1: NM_153186:exon2:c.800 801insAGCTGT:p.A267delinsAAV,KANK1: NM_015158:exon3:c.1274 1275insAGCTGT:p.A425delinsAAV,KANK1: NM_001256877:exon4:c.1274 1275insAGCTGT:p.A425delinsAAV,KANK1: NM_001256876:exon7:c.1274 1275insAGCTGT:p.A425delinsAAV","Cerebral palsy, spastic quadriplegic, 2, 612900 (3)","Cerebral atrophy, Cerebral palsy, Muscular hypotonia, Autosomal dominant inheritance with maternal imprinting, Spastic tetraplegia, Intellectual disability, Ventriculomegaly","Hirschsprung disease, Nephrotic syndrome steroid sensitive, Autism, Fasting proinsulin concentration association with, Intellectual disability, Intellectual disability cerebral atrophy hypotonia and facial hyperpigmentation"]
["KCNV2","9p24.2",2717819,"rs145731729","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","KCNV2: NM_133497:exon1:c.G80A:p.R27H","Retinal cone dystrophy 3B, 610356 (3)","Photophobia, Astigmatism, Cone/cone-rod dystrophy, Macular atrophy, Strabismus, Scotoma, Autosomal recessive inheritance, Nyctalopia, Horizontal nystagmus, Myopia","Cone-rod dystrophy, Cone dystrophy with supernormal rod ERG, Epilepsy, Leber congenital amaurosis, Cone dystrophy autosomal recessive, Retinal dystrophy, Cone/cone-rod dystrophy, Cone dystrophy, Retinitis pigmentosa, Parkinson disease early onset"]
["LURAP1L","9p23",12821505,"rs200423682","C","T",".",".",".",".","PASS","Heterozygotes",1,"exonic",".","nonsynonymous SNV","LURAP1L: NM_203403:exon2:c.C433T:p.L145F","---","---","---"]
["ADAMTSL1","9p22.1",18777820,".","T","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ADAMTSL1: NM_001040272:exon19:c.T3593C:p.V1198A","---","---","Glaucoma craniofacial and other systemic features, Autism spectrum disorder, Developmental disorder"]
["DENND4C","9p22.1",19276189,".","G","A",".",".","PASS","Heterozygotes",".",".",1,"exonic",".","nonsynonymous SNV","DENND4C: NM_001330640:exon2:c.G17A:p.G6E,DENND4C: NM_017925:exon2:c.G17A:p.G6E","---","---","---"]
["SIGMAR1","9p13.3",34635679,"rs11559048","G","A","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","SIGMAR1: NM_147157:exon3:c.C529T:p.R177W,SIGMAR1: NM_001282206:exon4:c.C322T:p.R108W,SIGMAR1: NM_001282207:exon4:c.C562T:p.R188W,SIGMAR1: NM_005866:exon4:c.C622T:p.R208W","?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)|?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)","Spinal muscular atrophy, Foot dorsiflexor weakness, Autosomal recessive inheritance, Hyporeflexia, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Pes cavus, Split hand, Progressive, Hammertoe, Babinski sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Spasticity, Hyperreflexia, Abnormal upper motor neuron morphology, Slow progression, Abnormality of the bladder, Dysarthria, Gait disturbance, EMG abnormality, Abnormal pyramidal signs, Decreased muscle mass, Sensory neuropathy, Pseudobulbar behavioral symptoms","Amyotrophic lateral sclerosis, Frontotemporal lobar degeneration - motor neuron disease, Frontotemporal lobar degeneration, Alzheimer disease, Distal motor neuropathy, Amyotrophic lateral sclerosis juvenile, Silver-like syndrome, Motor neuropathy, Schizophrenia association with, Alcoholism protection against association with"]
["C9orf3","9q22.32",97844978,"rs762510466","T","C",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","C9orf3: NM_032823:exon14:c.T2144C:p.V715A,C9orf3: NM_001193329:exon15:c.T2441C:p.V814A","---","---","---"]
["ANKS6","9q22.33",101546410,"rs79073889","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ANKS6: NM_173551:exon4:c.G937A:p.D313N","Nephronophthisis 16, 615382 (3)","Polycystic kidney dysplasia, Hepatic fibrosis, Situs inversus totalis, Renal insufficiency, Autosomal recessive inheritance, Pulmonic stenosis, Patent ductus arteriosus, Cholestasis, Hypertrophic cardiomyopathy, Nephronophthisis, Enlarged kidney, Aortic valve stenosis","Polycystic kidney disease, Nephronophthisis"]
["SVEP1","9q31.3",113252047,"rs150545784","C","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","SVEP1: NM_153366:exon9:c.G1813T:p.V605F","---","---","Developmental disorder, Coronary artery disease association with, Septic shock modifier of"]
["PBX3","9q33.3",128725366,"rs114191763","C","T","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonsynonymous SNV","PBX3: NM_001134778:exon8:c.C973T:p.P325S,PBX3: NM_006195:exon8:c.C1198T:p.P400S","---","---","Autism spectrum disorder, Congenital heart defects"]
["GOLGA2","9q34.11",131023951,".","CCCAGGTGTGCTT","C",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonframeshift deletion","GOLGA2: NM_004486:exon14:c.1127 1138del:p.376 380del","---","---","Autism spectrum disorder, Developmental delay seizures microcephaly and muscular dystrophy"]
["HMCN2","9q34.11",133231500,"rs11244313","G","A","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","unknown","UNKNOWN","---","---","---"]
["MAMDC4","9q34.3",139753246,"rs116894068","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"exonic",".","nonsynonymous SNV","MAMDC4: NM_206920:exon23:c.C2897T:p.P966L","---","---","Axial spondyloarthritis, Schizophrenia"]
["ARSD","Xp22.33",2832668,"rs139484145","A","G",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","stoploss","ARSD: NM_009589:exon7:c.T1147C:p.X383Q","---","---","---"]
["ARSD","Xp22.33",2833605,"rs111939179","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","stopgain","ARSD: NM_001669:exon6:c.G992A:p.W331X,ARSD: NM_009589:exon6:c.G992A:p.W331X","---","---","---"]
["ARSD","Xp22.33",2833638,"rs370769167","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ARSD: NM_001669:exon6:c.G959A:p.G320D,ARSD: NM_009589:exon6:c.G959A:p.G320D","---","---","---"]
["ARSD","Xp22.33",2836181,"rs73632975","A","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ARSD: NM_001669:exon5:c.T527A:p.M176K,ARSD: NM_009589:exon5:c.T527A:p.M176K","---","---","---"]
["ARSD","Xp22.33",2836184,"rs73632976","C","T",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"exonic",".","nonsynonymous SNV","ARSD: NM_001669:exon5:c.G524A:p.G175D,ARSD: NM_009589:exon5:c.G524A:p.G175D","---","---","---"]
["MSL3","Xp22.2",11776833,"rs781345723","CCTT","C","PASS","Heterozygotes",".",".","PASS","Homozygotes",2,"exonic",".","nonframeshift deletion","MSL3: NM_001193270:exon1:c.8 10del:p.3 4del","---","---","Neurodevelopmental disorder, Intellectual disability/developmental delay"]
["ACOT9","Xp22.11",23723887,".","G","A","PASS","Heterozygotes","PASS","Homozygotes",".",".",2,"exonic",".","stopgain","ACOT9: NM_001330259:exon10:c.C724T:p.Q242X,ACOT9: NM_001033583:exon11:c.C904T:p.Q302X,ACOT9: NM_001037171:exon12:c.C931T:p.Q311X","---","---","---"]
["GPR82","Xp11.4",41587078,".","AT","A","PASS","Heterozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"exonic",".","frameshift deletion","GPR82: NM_080817:exon3:c.800delT:p.I267fs","---","---","---"]
["AR","Xq12",66765158,"rs4045402","T","TGCAGCAGCA","PASS","Heterozygotes",".",".",".",".",1,"exonic",".","nonframeshift insertion","AR: NM_000044:exon1:c.170 171insGCAGCAGCA:p.L57delinsLQQQ,AR: NM_001348061:exon1:c.170 171insGCAGCAGCA:p.L57delinsLQQQ,AR: NM_001348063:exon1:c.170 171insGCAGCAGCA:p.L57delinsLQQQ,AR: NM_001348064:exon1:c.170 171insGCAGCAGCA:p.L57delinsLQQQ","Androgen insensitivity, 300068 (3)|Androgen insensitivity, partial, with or without breast cancer, 312300 (3)|Hypospadias 1, X-linked, 300633 (3)|Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)|{Prostate cancer, susceptibility to}, 176807 (3)","Infertility, Osteoporosis, Absent pubic hair, Male pseudohermaphroditism, Sensory neuropathy, Nephrolithiasis, Inguinal hernia, Absent axillary hair, Testicular gonadoblastoma, Cryptorchidism, Primary amenorrhea, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uterus, Gynecomastia, Tremor, Muscle cramps, Hypospadias, Micropenis, X-linked recessive inheritance, Bifid scrotum, Hypogonadism, Abnormality of the rib cage, Absent vas deferens, Azoospermia, Perineal hypospadias, Sparse pubic hair, Absent facial hair, Female external genitalia in individual with 46,XY karyotype, Blind vagina, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Labial hypoplasia, Growth abnormality, Sparse axillary hair, Neoplasm, Hyporeflexia, Abnormality of the mouth, Limb muscle weakness, Peripheral neuropathy, Bulbar palsy, Calf muscle hypertrophy, Adult onset, Slow progression, Dysphagia, Dysarthria, Testicular atrophy, Decreased fertility, Elevated serum creatine phosphokinase, Fasciculations, Gonadal neoplasm, Female pseudohermaphroditism, Muscular hypotonia, Type II diabetes mellitus, Gait disturbance, Erectile abnormalities, Dysphonia, Abnormality of lipid metabolism, Skeletal muscle atrophy","Prostate cancer, Androgen insensitivity syndrome, Pseudohermaphroditism male, Androgen insensitivity syndrome partial, Infertility male, Azoospermia, Azoospermia hypergonadotropic, Hypospadias non-syndromic, Androgenetic alopecia reduced risk association with, Hypospadias, 46XY disorder of sex development, Infertility idiopathic, Adrenal hyperplasia, Reifenstein syndrome, Breast cancer male, Premature ovarian failure, Primary amenorrhea, Gynaecomastia, Defective spermatogenesis, Testicular dysgenesis syndrome, Disorder of sex development, Disorder of androgen synthesis or action, 46XY complete androgen insensitivity, Androgen insensitivity syndrome & Leydig cell hyperplasia"]
["COL4A5","Xq22.3",107865996,"rs78972735","G","T","PASS","Heterozygotes","PASS","Homozygotes",".",".",2,"exonic",".","nonsynonymous SNV","COL4A5: NM_000495:exon33:c.G2858T:p.G953V","Alport syndrome, 301050 (3)","Thickening of the glomerular basement membrane, Stage 5 chronic kidney disease, Ichthyosis, Anterior lenticonus, Diffuse glomerular basement membrane lamellation, Myopia, Congenital cataract, Thrombocytopenia, Sensorineural hearing impairment, X-linked dominant inheritance, Microscopic hematuria, Heterogeneous, Hypertension, Hypoparathyroidism, Diffuse leiomyomatosis, Corneal erosion, Proteinuria, Nephrotic syndrome, Nephritis, Progressive","Alport syndrome, Alport syndrome / thin basement membrane nephropathy, Proteinuria and hematuria, Glomerular kidney disease, Nephrotic syndrome steroid resistant, Collagen IV nephropathy, Glomerulopathy X-linked, Focal segmental glomerulosclerosis, Alport syndrome X-linked, Haematuria, Focal segmental glomerulosclerosis & sensorineural hearing loss, Autism spectrum disorder, Benign haematuria, Nephrotic syndrome monogenic, Deafness"]
["C1orf210","1p34.2",43748779,".","CT","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"splicing"," NM_182517:exon3:c.20-2A>-; NM_001164829:exon3:c.20-2A>-",".",".","---","---","---"]
["C1orf168","1p32.2",57224387,"rs142698557","A","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"splicing"," NM_001004303:exon6:c.1098+2T>A",".",".","---","---","---"]
["RPAP2","1p22.1",92798945,"rs78196083","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"splicing"," NM_024813:exon9:c.1456-3C>T",".",".","---","---","---"]
["DAP3","1q22",155701143,"rs2274787","G","A","PASS","Heterozygotes",".",".",".",".",1,"splicing"," NM_001199850:exon9:c.742-4G>A; NM_001199851:exon9:c.721-4G>A; NM_001199849:exon11:c.844-4G>A; NM_033657:exon10:c.844-4G>A; NM_004632:exon10:c.844-4G>A",".",".","---","---","Metabolic disorder, Autism spectrum disorder"]
["PDSS1","10p12.1",27035259,"rs202175213","T","C","PASS","Heterozygotes",".",".",".",".",1,"splicing"," NM_001321979:exon12:c.598-3T>C; NM_001321978:exon10:c.917-3T>C; NM_014317:exon12:c.1108-3T>C",".",".","Coenzyme Q10 deficiency, primary, 2, 614651 (3)","Aortic regurgitation, Peripheral neuropathy, Intellectual disability, mild, Macrocephaly, Optic atrophy, Autosomal recessive inheritance, Mitral regurgitation, Pulmonary arterial hypertension, Increased serum lactate, Cutis marmorata, Areflexia, Obesity","Mitochondrial disorder, OXPHOS deficiency"]
["CUL2","10p11.21",35314130,"rs58779572","TA","TAA","PASS","trialleles",".",".",".",".",1,"splicing"," NM_001324376:exon18:c.1225-5->T; NM_003591:exon17:c.1618-5->T; NM_001198779:exon17:c.1657-5->T; NM_001198778:exon17:c.1675-5->T; NM_001324375:exon15:c.1429-5->T; NM_001198777:exon17:c.1618-5->T",".",".","---","---","Inflammatory bowel disease protection against association with"]
["CUL2","10p11.21",35320317,".","A","G","PASS","Heterozygotes",".",".",".",".",1,"splicing"," NM_001324376:exon15:c.907-3T>C; NM_003591:exon14:c.1300-3T>C; NM_001198779:exon14:c.1339-3T>C; NM_001198778:exon14:c.1357-3T>C; NM_001324375:exon12:c.1111-3T>C; NM_001198777:exon14:c.1300-3T>C",".",".","---","---","Inflammatory bowel disease protection against association with"]
["DLG5","10q22.3",79616655,"rs375711278","G","A","PASS","Heterozygotes",".",".",".",".",1,"splicing"," NM_004747:exon3:c.374-5C>T",".",".","---","---","Congenital anomalies of the kidney and urinary tract, Inflammatory bowel disease risk association with, Developmental disorder, Decreased adult height association with"]
["PAPSS2","10q23.2",89473069,"rs367885911","T","TAAAA","PASS","Heterozygotes","PASS","Homozygotes","PASS","Heterozygotes",3,"splicing"," NM_004670:exon3:c.381+2->AAAA; NM_001015880:exon3:c.381+2->AAAA",".",".","Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)","Premature pubarche, Kyphoscoliosis, Hirsutism, Lumbar scoliosis, Lower limb undergrowth, Irregular vertebral endplates, Short stature, Secondary amenorrhea, Brachydactyly, Spondyloepimetaphyseal dysplasia, Platyspondyly, Autosomal recessive inheritance, Acne, Bowing of the legs","Brachyolmia, Reduced PAPSS activity, Premature pubarche, Developmental disorder, Androgen excess, Spondyloepiphyseal dysplasia"]
["LIPA","10q23.31",90988157,".","T","G","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"splicing"," NM_000235:exon4:c.230-2A>C; NM_001127605:exon4:c.230-2A>C; NM_001288979:exon2:UTR5",".",".","Cholesteryl ester storage disease, 278000 (3)|Wolman disease, 278000 (3)","Nausea and vomiting, Adrenal calcification, Esophageal varix, Ascites, Global developmental delay, Cachexia, Malnutrition, Hepatomegaly, Anemia, Hepatic failure, Growth delay, Fever, Steatorrhea, Adrenal insufficiency, Splenomegaly, Abdominal distention, Bone-marrow foam cells, Jaundice, Cirrhosis, Hypercholesterolemia, Diarrhea, Pruritus, Hypertriglyceridemia, Arteriosclerosis, Failure to thrive, Hepatosplenomegaly, Autosomal recessive inheritance, Vacuolated lymphocytes, Hepatic steatosis, Death in infancy, Vomiting, Pulmonary arterial hypertension, Hepatic fibrosis, Protuberant abdomen","Lysosomal acid lipase deficiency, Wolman disease, Hypercholesterolaemia, Cholesterol ester storage disease, Haemophagocytic lymphohistiocytosis, Wolman disease / cholesterol ester storage disease, Coronary artery disease increased risk association with, Coronary artery disease increased risk"]
["NRAP","10q25.3",115405703,"rs35741231","G","GAAA","PASS","trialleles",".",".",".",".",1,"splicing"," NM_001261463:exon11:c.994-3->TTT; NM_006175:exon11:c.994-3->TTT; NM_001322945:exon11:c.994-3->TTT; NM_198060:exon11:c.994-3->TTT",".",".","---","---","Cardiomyopathy dilated, Myofibrillar myopathy, QT interval association with, Autism spectrum disorder"]
["DMBT1","10q26.13",124356572,"rs369185079","T","TGA",".",".",".",".","PASS","Heterozygotes",1,"splicing"," NM_001320644:exon24:c.2917+2->GA; NM_007329:exon24:c.2917+2->GA; NM_017579:exon23:c.2887+2->GA; NM_004406:exon14:c.1420+2->GA",".",".","---","---","Breast cancer increased risk association with, Breast cancer, Intellectual disability autosomal recessive"]
["MMP26","11p15.4",5013191,"rs146916911","C","A",".",".",".",".","PASS","Heterozygotes",1,"splicing"," NM_021801:exon5:c.596-3C>A",".",".","---","---","---"]
["NXPE1","11q23.2",114398627,"rs777141697","C","CAA","PASS","trialleles",".",".","PASS","trialleles",2,"splicing"," NM_152315:exon4:c.408-4->TT",".",".","---","---","---"]
["NUAK1","12q23.3",106500308,"rs142220131","A","G",".",".",".",".","PASS","Heterozygotes",1,"splicing"," NM_014840:exon2:c.241-5T>C",".",".","---","---","Autism spectrum disorder, Autism"]
["RAD9B","12q24.11",110940193,"rs377600646","A","C",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"splicing"," NM_001286536:exon1:c.46+5A>C; NM_152442:exon1:c.46+5A>C; NM_001286535:exon1:c.46+5A>C",".",".","---","---","Autism spectrum disorder"]
["P2RX7","12q24.31",121603241,"rs201409523","G","A","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"splicing"," NM_002562:exon6:c.614+1G>A",".",".","---","---","Null allele, Altered function, Reduced function, Depression association with, Chronic lymphocytic leukaemia association with, Reduced sensitivity to calcium inhibition, Mesial temporal lobe epilepsy with hippocampal sclerosis"]
["SAMD4A","14q22.2",55243128,"rs760989380","C","T","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"splicing"," NM_015589:exon10:c.1918-4C>T; NM_001161576:exon9:c.1654-4C>T; NM_001161577:exon6:c.691-4C>T",".",".","---","---","---"]
["ULK3","15q24.1",75135344,".","C","T","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"splicing"," NM_001284365:exon1:UTR5; NM_001284364:exon1:c.102+1G>A; NM_001099436:exon1:c.102+1G>A",".",".","---","---","---"]
["C16orf71","16p13.3",4797639,".","G","A",".",".","PASS","Heterozygotes",".",".",1,"splicing"," NM_139170:exon9:c.1572+4G>A; NM_139170:exon9:UTR3",".",".","---","---","---"]
["PHKG2","16p11.2",30764712,".","C","CAG","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"splicing"," NM_000294:exon6:c.393-3->AG; NM_001172432:exon6:c.393-3->AG",".",".","Cirrhosis due to liver phosphorylase kinase deficiency (3)|Glycogen storage disease IXc, 613027 (3)","Motor delay, Elevated hepatic transaminases, Autosomal recessive inheritance, Bile duct proliferation, Hypertriglyceridemia, Generalized hypotonia, Splenomegaly, Growth delay, Fasting hypoglycemia, Infantile onset, Ketosis, Cirrhosis, Lactic acidosis, Hepatomegaly","Phosphorylase kinase deficiency, Glycogen storage disease 9, Glycogen storage disease 9c, Mauriac syndrome"]
["MYH4","17p13.1",10367994,"rs78691159","A","G","PASS","Heterozygotes","PASS","Homozygotes","PASS","Heterozygotes",3,"splicing"," NM_017533:exon6:c.533+4T>C",".",".","---","---","Intellectual disability autosomal recessive"]
["MYO19","17q12",34891039,"rs146555241","GCGGCGGAGTGTTGTGCGAGTC","G","PASS","Homozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"splicing",".",".",".","---","---","---"]
["HDAC5","17q21.31",42171206,"rs454192","T","A",".",".",".",".","PASS","trialleles",1,"splicing"," NM_005474:exon4:c.95-4A>T; NM_001015053:exon4:c.98-4A>T",".",".","---","---","Tourette syndrome"]
["MAP3K3","17q23.3",61710166,"rs56394992","T","C",".",".",".",".","PASS","Heterozygotes",1,"splicing"," NM_001330431:exon2:c.126+4T>C; NM_203351:exon2:c.126+4T>C; NM_002401:exon2:c.126+4T>C",".",".","---","---","---"]
["TRIM65","17q25.1",73888268,"rs762624910","T","C","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"splicing"," NM_173547:exon4:c.745-2A>G; NM_001256124:exon4:c.745-2A>G",".",".","---","---","---"]
["TK1","17q25.3",76171254,"rs2661681","C","T",".",".","PASS","Heterozygotes",".",".",1,"splicing"," NM_003258:exon6:c.394-4G>A; NM_001346663:exon6:c.394-4G>A",".",".","---","---","---"]
["LPAR2","19p13.11",19738097,"rs139102507","G","A",".",".","PASS","Heterozygotes",".",".",1,"splicing"," NM_004720:exon2:UTR5",".",".","---","---","---"]
["GMIP","19p13.11",19749140,"rs200345588","TG","T",".",".","PASS","Heterozygotes",".",".",1,"splicing"," NM_001288998:exon9:c.619-3C>-; NM_001288999:exon9:c.619-3C>-; NM_016573:exon9:c.619-3C>-",".",".","---","---","Major depressive disorder association with"]
["BCL3","19q13.32",45262680,"rs899091","C","T",".",".",".",".","PASS","Heterozygotes",1,"splicing"," NM_005178:exon9:c.1178-5C>T",".",".","Leukemia/lymphoma, B-cell, 3 (2)","---","---"]
["STRN4","19q13.32",47224033,"rs201266517","A","G","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"splicing"," NM_013403:exon17:c.2093-5T>C; NM_001039877:exon17:c.2114-5T>C",".",".","---","---","---"]
["MAP4K3","2p22.1",39519910,"rs55748017","T","C",".",".",".",".","PASS","Heterozygotes",1,"splicing"," NM_001270425:exon17:c.1208+4A>G; NM_003618:exon18:c.1271+4A>G",".",".","---","---","---"]
["MAP4K3","2p22.1",39526947,"rs3755170","T","C",".",".",".",".","PASS","Heterozygotes",1,"splicing"," NM_001270425:exon15:c.1057-5A>G; NM_003618:exon16:c.1120-5A>G",".",".","---","---","---"]
["MDH1","2p15",63824528,"rs78810459","C","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"splicing"," NM_005917:exon4:c.200-5C>A; NM_001316374:exon4:c.200-5C>A; NM_001199112:exon3:UTR5; NM_001199111:exon4:c.254-5C>A",".",".","---","---","Altered promoter activity, Autism spectrum disorder"]
["XIRP2","2q24.3",167759971,"rs184686627","G","C",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"splicing"," NM_152381:exon2:UTR5; NM_001199143:exon2:UTR5; NM_001079810:exon2:UTR5",".",".","---","---","Sudden unexplained nocturnal death syndrome, Schizophrenia, Brugada syndrome, Dilated cardiomyopathy modifier of"]
["TTN","2q31.2",179656928,"rs56006378","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"splicing"," NM_001267550:exon10:c.1537-4G>A; NM_133437:exon10:c.1537-4G>A; NM_001256850:exon10:c.1537-4G>A; NM_133378:exon10:c.1537-4G>A; NM_133432:exon10:c.1537-4G>A; NM_003319:exon10:c.1537-4G>A; NM_133379:exon10:c.1537-4G>A",".",".","Cardiomyopathy, dilated, 1G, 604145 (3)|Cardiomyopathy, familial hypertrophic, 9, 613765 (3)|Muscular dystrophy, limb-girdle, type 2J, 608807 (3)|Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)|Salih myopathy, 611705 (3)|Tibial muscular dystrophy, tardive, 600334 (3)","Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Muscular dystrophy, EMG: myopathic abnormalities, Childhood onset, Distal muscle weakness, Proximal muscle weakness, Sensorineural hearing impairment, Myopathy, Abnormality of neutrophils, Palmoplantar keratoderma, Dilated cardiomyopathy, Lipoatrophy, EMG abnormality, Autosomal dominant inheritance, Congenital onset, Sudden death, Calf muscle hypertrophy, Flexion contracture, Generalized muscle weakness, Motor delay, Centrally nucleated skeletal muscle fibers, Facial palsy, Infantile onset, Scoliosis, Arrhythmia, Ptosis, Hypertrophic cardiomyopathy, Foot dorsiflexor weakness, Diaphragmatic weakness, Neck flexor weakness, Rimmed vacuoles, Incomplete penetrance, Adult onset, Slow progression, Steppage gait","Cardiomyopathy hypertrophic modifier of, Tibial muscular dystrophy, Muscular dystrophy, Sudden cardiac death, Muscular dystrophy limb girdle 2J, Cardiomyopathy dilated, Distal titinopathy, Developmental disorder, Inclusion body myopathy, Myopathy distal, Arrhythmogenic right ventricular cardiomyopathy, Titinopathy, Rimmed vacuolar myopathy, Muscle weakness, Neuromuscular disorder, Muscular dystrophy Emery-Dreifuss-like without cardiomyopathy, Myopathy/Muscular dystrophy, Core myopathy with heart disease, Myopathy early-onset with cardiomyopathy, Cardiomyopathy left ventricular noncompaction, Muscular dystrophy limb girdle adult onset, Bannayan-Riley-Ruvalcaba-like syndrome, Cardiomyopathy, Centronuclear myopathy, Cardiac arrest, Congenital myopathy, Bannayan-Riley-Ruvalcaba syndrome, Noncompaction left ventricular, Arthrogryposis multiplex congenita with axoglial defects, QT interval association with, Muscular dystrophy limb girdle, Cardiomyopathy dilated and heart failure, Rigid spine syndrome and respiratory difficulty, Myopathy, Brugada syndrome, Cardiomyopathy hypertrophic, Hereditary myopathy with early respiratory failure, Sudden unexpected death in epilepsy, Cardiovascular, Cardiomyopathy arrhythmogenic, Cardiomyopathy dilated with left ventricular dysfunction, Autism spectrum disorder, Sudden arrhythmic death syndrome, Cardiomyopathy arrhythmogenic left ventricular, Myopathy with early respiratory failure, Hernia inguinal, Sudden unexplained death, Cardiomyopathy dilated with ventricular tachycardia, Cardiomyopathy restrictive, Cardiomyopathy peripartum/dilated, Sudden unexpected death, Breast cancer, Cardiomyopathy dilated reduced risk, Ventricular fibrillation idiopathic, Cardiomyopathy dilated non-compaction, Bradycardia, Myopathy congenital, Cardiomyopathy peripartum, Fetal akinesia, Ebstein anomaly, Left ventricular dysfunction, Decreased adult height association with, Tourette syndrome, Epilepsy, Core-rod myopathy, Centronuclear myopathy/Multi-minicore disease, Arthrogryposis multiplex congenita & myopathy without cardiac involvement, Multiminicore congenital myopathy, Cardiomyopathy hypertrophic association with, Contracture syndrome, Muscular dystrophy with enlarged heart, Mitochondrial myopathy, Conotruncal heart defects, Myopathy early-onset with fatal cardiomyopathy, Cardiac dysrhythmia, Cardiomyopathy/Myopathy/Muscular dystrophy, Schizophrenia, Malignant hyperthermia, Cardiomyopathy autosomal dominant with left ventricular noncompaction features, Muscular dystrophy limb-girdle"]
["UMODL1","21q22.3",43491502,"rs200823234","G","C",".",".","PASS","Heterozygotes",".",".",1,"splicing"," NM_173568:exon1:c.76+1G>C; NM_001004416:exon1:c.76+1G>C",".",".","---","---","Conotruncal heart defects, Primary ovarian insufficiency, Neurology pediatric"]
["SYN2","3p25.2",12046235,"rs782195645","GTAAGA","G","PASS","Homozygotes","PASS","Homozygotes","PASS","Homozygotes",3,"splicing",".",".",".","{Schizophrenia, susceptibility to}, 181500 (3)","---","Autism spectrum disorder, Epilepsy, Thyrotropin levels association with"]
["PLD1","3q26.31",171338172,"rs187883144","T","C","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"splicing"," NM_002662:exon24:c.2728+4A>G; NM_001130081:exon23:c.2614+4A>G",".",".","Cardiac valvular defect, developmental, 212093 (3)","Mitral valve prolapse, Hydroureter, Hydronephrosis, Edema, Mitral stenosis, Tricuspid regurgitation, Autosomal recessive inheritance, Arteria lusoria, Inguinal hernia, Tricuspid valve prolapse, Patent foramen ovale, Urethral diverticulum, Hydrops fetalis","Congenital heart defects, Neurodevelopmental disorder"]
["ATP13A4","3q29",193125187,"rs375684599","C","T","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"splicing"," NM_032279:exon29:c.3298-5G>A",".",".","---","---","Defective calcium regulation, Autism spectrum disorder"]
["RGS12","4p16.3",3429812,"rs576758669","T","TG","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"splicing"," NM_198229:exon15:c.3332-5->G; NM_002926:exon15:c.3332-5->G; NM_198227:exon13:c.1388-5->G",".",".","---","---","Goitre, Schizophrenia, Schizoaffective disorder depressed subtype"]
["ADCY2","5p15.31",7414683,"rs141777654","C","T",".",".","PASS","Heterozygotes",".",".",1,"splicing"," NM_020546:exon2:c.211-3C>T",".",".","---","---","Developmental disorder, Tourette syndrome, Autism spectrum disorder"]
["GABRP","5q35.1",170221307,"rs117380156","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"splicing"," NM_014211:exon4:c.240+5G>A; NM_001291985:exon4:c.240+5G>A",".",".","---","---","Generalized epilepsy, Schizophrenia, Bipolar disorder"]
["CLIC5","6p21.1",45880479,"rs75780343","A","G","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"splicing"," NM_001256023:exon6:c.589-3T>C",".",".","?Deafness, autosomal recessive 103, 616042 (3)","Autosomal recessive inheritance, Vestibular areflexia, Sensorineural hearing impairment, Infantile onset","Progressive hearing loss & vestibular dysfunction, Schizophrenia"]
["FRMD1","6q27",168467516,"rs117858331","T","C",".",".","PASS","Heterozygotes","PASS","Heterozygotes",2,"splicing"," NM_024919:exon4:c.385-5A>G; NM_001122841:exon4:c.181-5A>G",".",".","---","---","---"]
["SDK1","7p22.2",4215403,"rs112491467","A","G","PASS","Heterozygotes",".",".","PASS","Heterozygotes",2,"splicing"," NM_152744:exon34:c.4937-4A>G; NM_001079653:exon8:c.398-4A>G",".",".","---","---","Autism spectrum disorder"]
["POR","7q11.23",75614280,"rs782775039","CGCCCCCTCA","C",".",".","PASS","Heterozygotes",".",".",1,"splicing",".",".",".","Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)|Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)","Joint contracture of the hand, Craniosynostosis, Laryngomalacia, Cloverleaf skull, Chordee, Abnormalities of placenta or umbilical cord, Vesicovaginal fistula, Micropenis, Choanal atresia, Small for gestational age, Hemivertebrae, Tarsal synostosis, Humeroradial synostosis, Carpal synostosis, Autosomal recessive inheritance, Choanal stenosis, Femoral bowing, Scrotal hypoplasia, Ambiguous genitalia, Horseshoe kidney, Clitoral hypertrophy, Abnormality of the pinna, Malar flattening, Arachnodactyly, Rocker bottom foot, Conductive hearing impairment, Oligohydramnios, Depressed nasal bridge, Midface retrusion, Hypertelorism, Polycystic ovaries, Cryptorchidism, Brachycephaly, Abnormality of the endocrine system, Maternal virilization in pregnancy, Labial hypoplasia, Arnold-Chiari malformation, Low maternal serum estriol, Bifid scrotum, Abnormality of metabolism/homeostasis, Camptodactyly, Bronchomalacia, Proptosis, Ulnar bowing, Hypospadias, Radioulnar synostosis, Scoliosis, Frontal bossing, Abnormality of abdomen morphology, Microcephaly, Hypoplastic labia majora, Upper airway obstruction, Atrial septal defect, Wide anterior fontanel, Abnormal renal morphology, Vaginal atresia, Long philtrum, Intellectual disability, Coronal craniosynostosis, Lambdoidal craniosynostosis, Narrow chest, Narrow pelvis bone, Hydrocephalus, Stenosis of the external auditory canal, Fused labia minora, Generalized hyperpigmentation, Aortic root aneurysm, Decreased testicular size, Acne, Pear-shaped nose, Abnormality of the labia majora, Accelerated skeletal maturation, Congenital adrenal hyperplasia, Hirsutism, Osteoporosis, Ectopic adrenal gland, Enlarged polycystic ovaries, Decreased serum testosterone level, Adrenogenital syndrome, Ambiguous genitalia, male, Increased serum testosterone level, Female sexual dysfunction, Abnormality of the menstrual cycle, Low-set ears, Urogenital sinus anomaly, Absence of secondary sex characteristics, Perineal hypospadias, Delayed puberty, Decreased serum estradiol, Tall stature, Androgen insufficiency, Hypoplasia of the vagina, Hyperpigmented genitalia, Adrenocorticotropic hormone excess, Male pseudohermaphroditism, Delayed skeletal maturation, Decreased circulating cortisol level, Abnormal sex determination, Ambiguous genitalia, female, Hypertension, Decreased fertility in females, Short stature, Flexion contracture, Female external genitalia in individual with 46,XY karyotype, Clinodactyly, Increased circulating ACTH level, Decreased fertility in males, Premature adrenarche","Reduced transcription, POR deficiency, Breast cancer advanced in African Americans association, Altered function, Altered enzyme activity, Adrenal hyperplasia, Disordered steroidogenesis, Antley-Bixler syndrome, Reduced 1720 lyase activity, Hypospadias, Antley-Bixler syndrome / disorder of sex development, 46XY disorder of sex development, Craniosynostosis, Reduced activity, Antley-Bixler syndrome with genital anomalies & disordered steroidogenesis"]
["CFAP69","7q21.13",89939377,"rs184803397","T","C",".",".",".",".","PASS","Heterozygotes",1,"splicing"," NM_001039706:exon23:c.2656-5T>C; NM_001160138:exon23:c.2602-5T>C",".",".","---","---","Multiple morphological abnormalities of the sperm flagella"]
["PTK2","8q24.3",141803487,".","C","G",".",".","PASS","Heterozygotes",".",".",1,"splicing"," NM_001199649:exon13:c.1094-4G>C; NM_153831:exon13:c.1094-4G>C; NM_001316342:exon11:c.755-4G>C; NM_005607:exon13:c.1160-4G>C",".",".","---","---","Autism spectrum disorder"]
["OPLAH","8q24.3",145112831,"rs77001213","G","A","PASS","Heterozygotes","PASS","Heterozygotes","PASS","Heterozygotes",3,"splicing"," NM_017570:exon9:c.1089-5C>T",".",".","5-oxoprolinase deficiency, 260005 (3)","Diarrhea, Increased level of L-pyroglutamic acid in urine, 5-oxoprolinase deficiency, Vomiting, Prolinuria, Autosomal dominant inheritance, Calcium oxalate nephrolithiasis, Abdominal pain, Autosomal recessive inheritance, Enterocolitis","5-oxoprolinase deficiency, Autism spectrum disorder"]
["FAM205C","9p13.3",34895085,"rs141407818","A","G","PASS","Heterozygotes","PASS","Heterozygotes",".",".",2,"splicing"," NM_001309427:exon2:c.145-4T>C; NM_001309426:exon2:c.145-4T>C",".",".","---","---","---"]
["ABCA1","9q31.1",107556793,"rs766536085","TA","TAA",".",".",".",".","PASS","trialleles",1,"splicing"," NM_005502:exon40:c.5383-3->T",".",".","HDL deficiency, type 2, 604091 (3)|Tangier disease, 205400 (3)|{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)","Distal muscle weakness, Hypocholesterolemia, Impaired thermal sensitivity, Hepatosplenomegaly, Peripheral axonal neuropathy, Ectropion, Thrombocytopenia, Anemia, Abdominal pain, Left ventricular hypertrophy, Syringomyelia, Coronary artery stenosis, Chronic noninfectious lymphadenopathy, Progressive peripheral neuropathy, Orange discoloured tonsils, Carotid artery stenosis, Hypertriglyceridemia, Dry skin, Facial diplegia, Accelerated atherosclerosis, Nail dystrophy, Corneal opacity, Decreased circulating high-density lipoprotein levels, Visual impairment, Hepatomegaly, Distal amyotrophy, Coronary artery atherosclerosis, Opacification of the corneal stroma, Myocardial infarction, Splenomegaly, Peripheral demyelination, Autosomal recessive inheritance, Impaired temperature sensation, Impaired pain sensation, Hyporeflexia, Nail dysplasia, Hemiplegia/hemiparesis, Xanthomatosis, EMG abnormality, Blurred vision, Abnormality of the liver, Lymphadenopathy, Autosomal dominant inheritance","Reduced plasma HDL cholesterol, HDL deficiency, Tangier disease, Low HDL cholesterol, Reduced total cholesterol, Scott syndrome, Increased total cholesterol, Autism spectrum disorder, Increased plasma HDL cholesterol, Altered HDL cholesterol levels, Alzheimer's disease association with, Hypoalphalipoproteinaemia, Coronary heart disease premature association with, High HDL cholesterol, Developmental disorder, Coronary artery disease increased risk, Increased risk of ischemic heart disease, Hypercholesterolaemia, Coronary heart disease increased risk association with, Atherosclerosis association with, Increased triglyceride levels, Increased risk of coronary artery disease association with, Reduced risk of coronary artery disease association with"]
["SETX","9q34.13",135152543,"rs201575546","T","TAA",".",".","PASS","trialleles",".",".",1,"splicing"," NM_001351527:exon22:c.6843-4->TT; NM_001351528:exon22:c.6843-4->TT; NM_015046:exon22:c.6843-4->TT",".",".","Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)|Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)","Distal muscle weakness, Decreased motor nerve conduction velocity, Oculomotor apraxia, Polyneuropathy, Chorea, Head tremor, Impaired distal vibration sensation, Pes cavus, Variable expressivity, Impaired proprioception, Nystagmus, Tremor, Increased antibody level in blood, Progressive gait ataxia, Areflexia, Distal amyotrophy, Elevated alpha-fetoprotein, Scoliosis, Impaired distal tactile sensation, Abnormal pyramidal signs, Gaze-evoked nystagmus, Hyporeflexia, Strabismus, Limb ataxia, Saccadic smooth pursuit, Dysphagia, Dystonia, Gait ataxia, Elevated serum creatine phosphokinase, Pontocerebellar atrophy, Cerebellar atrophy, Autosomal recessive inheritance, Conjunctival telangiectasia, Progressive, Dysarthria, Peripheral axonal neuropathy, Difficulty walking, Clonus, Abnormal lower motor neuron morphology, Diffuse axonal swelling, Abnormal upper motor neuron morphology, Pallor of dorsal columns of the spinal cord, Babinski sign, Amyotrophic lateral sclerosis, Hyperreflexia, Axonal degeneration, Degeneration of anterior horn cells, Autosomal dominant inheritance, Slow progression","Amyotrophic lateral sclerosis, Ataxia-ocular apraxia 2, Cerebellar ataxia with oculomotor apraxia-like phenotype, Cerebellar ataxia, Sensory ataxia, Alzheimer disease, Amyotrophic lateral sclerosis  phenotype modifier, Autism spectrum disorder, Amyotrophic lateral sclerosis 4 juvenile, Chorea and motor neuron disease, Ataxia with neuropathy, Peripheral neuropathy, Cerebellar ataxia/tremor syndrome, Ataxia nystagmus slurred speech dysmetria dysdiadochokinesia slightly reduced reflexes and cerebellar atrophy, Cerebellar ataxia autosomal recessive, Developmental delay reduced growth seizures & hypotonia, Ataxia-ocular apraxia 2 atypical, Charcot-Marie-Tooth disease type 2, Ataxia with oculomotor apraxia, Spinal muscular atrophy, Amyotrophic lateral sclerosis sporadic, Motor neuropathy hereditary, Sensory neuropathy, Amyotrophic lateral sclerosis juvenile, Parkinson disease"]
["PHKA2","Xp22.13",18925220,"rs201870008","G","A","PASS","Heterozygotes",".",".","PASS","Homozygotes",2,"splicing"," NM_000292:exon23:c.2518-5C>T",".",".","Glycogen storage disease, type IXa1, 306000 (3)|Glycogen storage disease, type IXa2, 306000 (3)","Hypoglycemia, Ketosis, Hepatomegaly, X-linked recessive inheritance, Elevated hepatic transaminases, Hypercholesterolemia, Growth delay, Motor delay, Hypertriglyceridemia","Liver glycogenosis X-linked type 1, Phosphorylase kinase deficiency hepatic, Glycogen storage disease 9a, Phosphorylase kinase deficiency, Liver glycogenosis X-linked type 2, Glycogen storage disease 9, Glycogen storage disease, Glycogen storage disease IXa, Hypoglycaemia ketotic"]