ClinVar Miner

Variants from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Location: India — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
115 120 79 0 0 1 314

Gene and significance breakdown #

Total genes and gene combinations: 192
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor total
HEXA 26 7 0 0 33
GBA, LOC106627981 2 11 1 0 13
GALNS 1 7 1 0 9
TPP1 0 8 1 0 9
DYSF 3 3 1 0 7
DMD 2 3 1 0 6
GLB1 1 2 3 0 6
TYR 4 2 0 0 6
MLH1 1 2 2 0 5
CAPN3 3 1 0 0 4
GNE 4 0 0 0 4
PPT1 0 4 0 0 4
CFTR 2 0 1 0 3
DYNC2H1 1 2 0 0 3
GCDH 0 3 0 0 3
SPG11 0 1 2 0 3
ABCA12 0 2 0 0 2
ADGRG1 2 0 0 0 2
AR 1 0 1 0 2
CCDC88C 1 0 1 0 2
CLCN7 0 0 2 0 2
COL4A5 1 1 0 0 2
DOK7 2 0 0 0 2
ETHE1 1 0 1 0 2
FAM20C 0 1 1 0 2
FLNC 0 0 2 0 2
G6PC 2 0 0 0 2
GM2A 0 2 0 0 2
IL2RG 1 1 0 0 2
LAMA2 1 1 0 0 2
MFSD8 0 0 2 0 2
NPC2 2 0 0 0 2
PSEN1 0 0 2 0 2
SCN1A 0 1 1 0 2
TTN 0 1 1 0 2
TUBB2B 0 1 1 0 2
AAAS 1 0 0 0 1
ABCA12, SNHG31 0 1 0 0 1
ABCA4 1 0 0 0 1
ABCD1 0 1 0 0 1
ACAT1 0 1 0 0 1
ACTA1 0 1 0 0 1
ADAMTSL2 0 0 1 0 1
ADCY5 0 0 1 0 1
AFG3L2 0 1 0 0 1
AGRN 0 0 1 0 1
ALAD 0 0 1 0 1
ALS2 1 0 0 0 1
ANAPC15, LRTOMT, MYH9 0 1 0 0 1
ANKRD11 0 1 0 0 1
APTX 1 0 0 0 1
ARID1A 0 0 1 0 1
ARID2 1 0 0 0 1
ASL 0 0 1 0 1
ASPA, SPATA22 1 0 0 0 1
ASPM 1 0 0 0 1
ASS1 0 1 0 0 1
ATG4A, COL4A5, COL4A6 0 1 0 0 1
ATP13A2 0 0 1 0 1
ATP7A 1 0 0 0 1
ATP7B 0 1 0 0 1
BRAF 1 0 0 0 1
BRCA1 0 1 0 0 1
BRCA2 0 0 1 0 1
BRIP1 0 0 1 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 1
C19orf12 0 0 1 0 1
CA8 0 1 0 0 1
CACNA1A 1 0 0 0 1
CACNA1C 0 0 1 0 1
CACNA1S 1 0 0 0 1
CDH1 0 0 1 0 1
CDK13 0 0 1 0 1
CEP290 1 0 0 0 1
CHKB, CHKB-CPT1B 0 1 0 0 1
CNGB3 1 0 0 0 1
COL1A1 1 0 0 0 1
COL4A5, COL4A6 0 1 0 0 1
COL6A1 0 0 1 0 1
COL6A2 0 0 1 0 1
COL6A3 0 1 0 0 1
COL7A1 1 0 0 0 1
CUL7 0 0 1 0 1
CYP21A2, LOC106780800 1 0 0 0 1
DCHS1 1 0 0 0 1
DIPK1A, RPL5 1 0 0 0 1
DMXL2 0 0 1 0 1
EDA 1 0 0 0 1
ELOVL4 0 1 0 0 1
EXTL3 0 1 0 0 1
FBN1 0 1 0 0 1
FBN2 0 0 1 0 1
FBXO7 0 0 1 0 1
FGFR2 1 0 0 0 1
FKRP 1 0 0 0 1
GALC 1 0 0 0 1
GALNS, TRAPPC2L 0 1 0 0 1
GATA4 0 0 1 0 1
GCH1 0 1 0 0 1
GDAP1 1 0 0 0 1
GLB1, TMPPE 0 1 0 0 1
GRIA4 0 0 1 0 1
GRM1 1 0 0 0 1
HEXB 1 0 0 0 1
HGSNAT 0 1 0 0 1
HSPB1 1 0 0 0 1
IBA57 0 1 0 0 1
IFITM5 1 0 0 0 1
KCND3 0 0 1 0 1
KCNJ1 1 0 0 0 1
KCNQ2 1 0 0 0 1
KCTD7 0 0 1 0 1
KIF2A 0 0 1 0 1
L2HGDH 1 0 0 0 1
LAMB3 1 0 0 0 1
LINS1 0 1 0 0 1
LIPA 0 1 0 0 1
LMNA 0 1 0 0 1
LOC102724058, SCN1A 0 0 1 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 1
LRP5 0 0 1 0 1
LTBP4 1 0 0 0 1
LZTR1 0 1 0 0 1
MLC1 0 0 1 0 1
MMAA 1 0 0 0 1
MMAB 1 0 0 0 1
MORC2 0 0 1 0 1
MSH2 0 1 0 0 1
MUTYH 1 0 0 0 1
NARS2 0 0 1 0 1
NDUFAF6 1 0 0 0 1
NEXMIF 0 0 1 0 1
NF1 0 0 1 0 1
NF2 1 0 0 0 1
NIPBL 0 0 1 0 1
NPHS1 1 0 0 0 1
OTC 1 0 0 0 1
PAFAH1B1 0 0 1 0 1
PANK2 0 1 0 0 1
PC 0 1 0 0 1
PCARE 1 0 0 0 1
PDHA1 0 1 0 0 1
PGAP1 0 0 1 0 1
PHKB 0 1 0 0 1
PIGA 0 0 1 0 1
PIGG 0 0 1 0 1
PIK3CD 1 0 0 0 1
PLA2G6 0 1 0 0 1
PLCE1 1 0 0 0 1
PLOD1 0 1 0 0 1
PLP1, RAB9B 0 1 0 0 1
POU1F1 0 1 0 0 1
PRF1 0 1 0 0 1
PRKN 0 1 0 0 1
PROC 0 0 1 0 1
PRRT2 0 0 1 0 1
PTH1R 0 0 1 0 1
RAB27A 0 1 0 0 1
RET 0 1 0 0 1
RPL10 0 1 0 0 1
RPS19 1 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 1
SCN1A, SCN9A 0 0 1 0 1
SCN2A 1 0 0 0 1
SCNN1B 0 1 0 0 1
SERAC1 1 0 0 0 1
SERPINH1 0 0 1 0 1
SH2D1A 0 1 0 0 1
SLC17A5 0 1 0 0 1
SLC17A8 0 0 1 0 1
SMARCA4 0 0 1 0 1
SMC1A 1 0 0 0 1
SPAST 0 1 0 0 1
SUCLG1 0 0 1 0 1
SURF1 1 0 0 0 1
SYNGAP1 0 1 0 0 1
SZT2 0 0 1 0 1
TAZ 0 1 0 0 1
TCOF1 0 1 0 0 1
TGM1 0 1 0 0 1
THAP1 0 0 1 0 1
TNNI3 0 0 1 0 1
TNXB 0 0 1 0 1
TSTD3, USP45 0 0 1 0 1
TUBGCP6 0 0 1 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 1
VPS13A 1 0 0 0 1
WAS 1 0 0 0 1
WT1 0 1 0 0 1
XPA 0 1 0 0 1
XPC 0 1 0 0 1
ZSWIM6 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 195
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Condition pathogenic likely pathogenic uncertain significance risk factor total
Tay-Sachs disease 26 7 0 0 33
Gaucher's disease, type 1 2 9 0 0 11
Mucopolysaccharidosis, MPS-IV-A 1 8 1 0 10
Ceroid lipofuscinosis neuronal 2 0 8 0 0 8
Autosomal recessive limb-girdle muscular dystrophy type 2B 3 3 1 0 7
Duchenne muscular dystrophy 2 3 1 0 6
Infantile GM1 gangliosidosis 1 3 1 0 5
Lynch syndrome II 1 2 2 0 5
Alport syndrome 1, X-linked recessive 1 3 0 0 4
GNE myopathy 4 0 0 0 4
Limb-girdle muscular dystrophy, type 2A 3 1 0 0 4
Neuronal ceroid lipofuscinosis 1 0 4 0 0 4
Tyrosinase-negative oculocutaneous albinism 4 0 0 0 4
Cystic fibrosis 2 0 1 0 3
Glutaric aciduria, type 1 0 3 0 0 3
Severe myoclonic epilepsy in infancy 0 1 2 0 3
Short-rib thoracic dysplasia 3 with or without polydactyly 1 2 0 0 3
Spastic paraplegia 11, autosomal recessive 0 1 2 0 3
Acute neuronopathic Gaucher's disease 0 2 0 0 2
Autosomal recessive congenital ichthyosis 4A 0 2 0 0 2
Autosomal recessive osteopetrosis 4 0 0 2 0 2
Congenital hydrocephalus 1 1 0 1 0 2
Diamond-Blackfan anemia 1 2 0 0 0 2
Ethylmalonic encephalopathy 1 0 1 0 2
GM1 gangliosidosis type 2 0 0 2 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 0 0 0 2
Leigh syndrome 2 0 0 0 2
Lethal osteosclerotic bone dysplasia 0 1 1 0 2
Myasthenia, limb-girdle, familial 2 0 0 0 2
Neuronal ceroid lipofuscinosis 7 0 0 2 0 2
Niemann-Pick disease, type C2 2 0 0 0 2
Polymicrogyria, asymmetric 0 1 1 0 2
Polymicrogyria, bilateral frontoparietal 2 0 0 0 2
Tay-Sachs disease, variant AB 0 2 0 0 2
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B 0 2 0 0 2
Xeroderma pigmentosum group A 0 2 0 0 2
3-Methylglutaconic aciduria type 2 0 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 1
Achromatopsia 3; Stargardt disease 1 1 0 0 0 1
Adrenoleukodystrophy 0 1 0 0 1
Alzheimer disease, type 3 0 0 1 0 1
Alzheimer disease, type 3; Frontotemporal dementia 0 0 1 0 1
Amyotrophic lateral sclerosis type 2 1 0 0 0 1
Androgen resistance syndrome 1 0 0 0 1
Argininosuccinate lyase deficiency 0 0 1 0 1
Ataxia-oculomotor apraxia type 1 1 0 0 0 1
Autosomal recessive congenital ichthyosis 1 0 1 0 0 1
Autosomal recessive congenital ichthyosis 4B 0 1 0 0 1
Autosomal recessive pseudohypoaldosteronism type 1 0 1 0 0 1
Bartter syndrome, type 2, antenatal 1 0 0 0 1
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 1 0 0 0 1
Bethlem myopathy 1 0 1 0 0 1
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 1 0 1
Breast-ovarian cancer, familial 1 0 1 0 0 1
Breast-ovarian cancer, familial 2 0 0 1 0 1
COFFIN-SIRIS SYNDROME 6 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 1
Cardiomyopathy, familial hypertrophic, 26 0 0 1 0 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 0 1 0 0 1
Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 0 0 1
Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate A 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2z 0 0 1 0 1
Choreoacanthocytosis 1 0 0 0 1
Citrullinemia type I 0 1 0 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 0 1
Coffin-Siris syndrome 1 0 0 1 0 1
Combined immunodeficiency, X-linked 1 0 0 0 1
Combined oxidative phosphorylation deficiency 24; DEAFNESS, AUTOSOMAL RECESSIVE 94 0 0 1 0 1
Congenital contractural arachnodactyly 0 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 1 0 1
Congenital muscular dystrophy, LMNA-related 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 1
Congenital myopathy with excess of thin filaments 0 1 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 1
Cortical dysplasia, complex, with other brain malformations 3 0 0 1 0 1
Crigler-Najjar syndrome type 1 1 0 0 0 1
Crouzon syndrome 1 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 1 0 0 0 1
DEAFNESS, AUTOSOMAL DOMINANT 71 0 0 1 0 1
Deafness, autosomal dominant 25 0 0 1 0 1
Deafness, autosomal recessive 63 0 1 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 1
Dilated cardiomyopathy 2A 0 0 1 0 1
Dyskeratosis congenita, autosomal recessive, 5 1 0 0 0 1
Dyskinesia, familial, with facial myokymia 0 0 1 0 1
Early infantile epileptic encephalopathy 11 1 0 0 0 1
Early infantile epileptic encephalopathy 18 0 0 1 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 1
Ehlers-Danlos syndrome, hydroxylysine-deficient 0 1 0 0 1
Epilepsy, progressive myoclonic 3 0 0 1 0 1
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 1 0 0 0 1
Exudative vitreoretinopathy 4 0 0 1 0 1
Familial cancer of breast 0 0 1 0 1
Familial hemophagocytic lymphohistiocytosis 2 0 1 0 0 1
Familial hypoplastic, glomerulocystic kidney 0 0 1 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 1
Frasier syndrome 0 1 0 0 1
Fukuyama congenital muscular dystrophy 1 0 0 0 1
GTP cyclohydrolase I deficiency 0 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 1 0 0 0 1
Geleophysic dysplasia 1 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 7 0 0 1 0 1
Glucocorticoid deficiency with achalasia 1 0 0 0 1
Glycogen storage disease IXb 0 1 0 0 1
Griscelli syndrome type 2 0 1 0 0 1
Hereditary diffuse gastric cancer 0 0 1 0 1
Hereditary spastic paraplegia 2 0 1 0 0 1
Hirschsprung disease 1 0 0 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 1
Hypokalemic periodic paralysis 1 1 0 0 0 1
Hypospadias 1, X-linked 0 0 1 0 1
Ichthyosis, spastic quadriplegia, and mental retardation 0 1 0 0 1
Immunodeficiency 14 1 0 0 0 1
Immunoskeletal dysplasia with neurodevelopmental abnormalities 0 1 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 1
KBG syndrome 0 1 0 0 1
Kufor-Rakeb syndrome 0 0 1 0 1
L-2-hydroxyglutaric aciduria 1 0 0 0 1
LEBER CONGENITAL AMAUROSIS 19 0 0 1 0 1
Limb-girdle muscular dystrophy, type 2J 0 1 0 0 1
Lissencephaly due to LIS1 mutation 0 0 1 0 1
Lymphoproliferative syndrome 1, X-linked 0 1 0 0 1
Lynch syndrome I 0 1 0 0 1
Lysosomal acid lipase deficiency 0 1 0 0 1
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 0 1 0 0 1
MYH-associated polyposis 1 0 0 0 1
Marfan syndrome 0 1 0 0 1
Meckel syndrome, type 4 1 0 0 0 1
Megaconial type congenital muscular dystrophy 0 1 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 1 0 1
Menkes kinky-hair syndrome 1 0 0 0 1
Mental retardation, X-linked 98 0 0 1 0 1
Mental retardation, autosomal dominant 14 0 0 1 0 1
Mental retardation, autosomal recessive 27 0 1 0 0 1
Mental retardation, autosomal recessive 42 0 0 1 0 1
Mental retardation, autosomal recessive 5 0 1 0 0 1
Mental retardation, autosomal recessive 53 0 0 1 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 1
Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 1 0 0 0 1
Metaphyseal chondrodysplasia, Jansen type 0 0 1 0 1
Microcephaly and chorioretinopathy, autosomal recessive, 1 0 0 1 0 1
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 0 0 1 0 1
Mucopolysaccharidosis, MPS-III-C 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 1 0 1
Multiple endocrine neoplasia, type 2a 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 3 0 1 0 0 1
Myasthenic syndrome, congenital, 8 0 0 1 0 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 0 0 1 0 1
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES 0 0 1 0 1
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 0 0 1 0 1
Nephrotic syndrome, type 3 1 0 0 0 1
Neurodegeneration with brain iron accumulation 4 0 0 1 0 1
Neurofibromatosis, type 1 0 0 1 0 1
Neurofibromatosis, type 2 1 0 0 0 1
Noonan syndrome 10 0 1 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 1
Osteogenesis imperfecta type 10 0 0 1 0 1
Osteogenesis imperfecta type 5 1 0 0 0 1
Osteogenesis imperfecta type I 1 0 0 0 1
Parkinson disease 14 0 1 0 0 1
Parkinson disease 15 0 0 1 0 1
Parkinson disease 2 0 1 0 0 1
Pigmentary pallidal degeneration 0 1 0 0 1
Pituitary hormone deficiency, combined, 1 0 1 0 0 1
Porphobilinogen synthase deficiency 0 0 1 0 1
Primary autosomal recessive microcephaly 5 1 0 0 0 1
Pyruvate carboxylase deficiency 0 1 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 1
Retinitis pigmentosa 54 1 0 0 0 1
Salla disease 0 1 0 0 1
Sandhoff disease 1 0 0 0 1
Seizures, benign familial infantile, 2 0 0 1 0 1
Spastic ataxia 5, autosomal recessive 0 1 0 0 1
Spastic paraplegia 17 0 1 0 0 1
Spastic paraplegia 4, autosomal dominant 0 1 0 0 1
Spinocerebellar ataxia type 19/22 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 13 1 0 0 0 1
Spongy degeneration of central nervous system 1 0 0 0 1
Stargardt disease 1 1 0 0 0 1
Subacute neuronopathic Gaucher's disease 0 0 1 0 1
Three M syndrome 1 0 0 1 0 1
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive 0 0 1 0 1
Tibial muscular dystrophy 0 0 1 0 1
Timothy syndrome 0 0 1 0 1
Torsion dystonia 6 0 0 1 0 1
Treacher Collins syndrome 1 0 1 0 0 1
Ullrich congenital muscular dystrophy 1 0 0 1 0 1
Van Maldergem syndrome 1 1 0 0 0 1
Vitamin B12-responsive methylmalonic acidemia type cblA 1 0 0 0 1
Vitamin B12-responsive methylmalonic acidemia type cblB 1 0 0 0 1
Wilson disease 0 1 0 0 1
X-linked severe combined immunodeficiency 0 1 0 0 1
X-linked thrombocytopenia with normal platelets 1 0 0 0 1

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