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:
ClinVar version:

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
101 110 63 0 0 1 274

Gene and significance breakdown #

Total genes and gene combinations: 168
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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
TPP1 0 8 1 0 9
DYSF 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
DMD 0 3 1 0 4
PPT1 0 4 0 0 4
DYNC2H1 1 2 0 0 3
GCDH 0 3 0 0 3
GNE 3 0 0 0 3
SPG11 0 1 2 0 3
ABCA12 0 2 0 0 2
ADGRG1 2 0 0 0 2
CFTR 2 0 0 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
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
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
AR 0 0 1 0 1
ARID2 1 0 0 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
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
CYP21A2, LOC106780800 1 0 0 0 1
DCHS1 1 0 0 0 1
DIPK1A, RPL5 1 0 0 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
GCH1 0 1 0 0 1
GLB1, TMPPE 0 1 0 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
IL2RG 0 1 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
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
MUTYH 1 0 0 0 1
NDUFAF6 1 0 0 0 1
NF1 0 0 1 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
PIGA 0 0 1 0 1
PIGG 0 0 1 0 1
PIK3CD 1 0 0 0 1
PLA2G6 0 1 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
RAB27A 0 1 0 0 1
RET 0 1 0 0 1
RPL10 0 1 0 0 1
RPS19 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
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
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: 170
Download table as spreadsheet
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
Ceroid lipofuscinosis neuronal 2 0 8 0 0 8
Limb-girdle muscular dystrophy, type 2B 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
Ceroid lipofuscinosis neuronal 1 0 4 0 0 4
Duchenne muscular dystrophy 0 3 1 0 4
Limb-girdle muscular dystrophy, type 2A 3 1 0 0 4
Tyrosinase-negative oculocutaneous albinism 4 0 0 0 4
GNE myopathy 3 0 0 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
Ceroid lipofuscinosis neuronal 7 0 0 2 0 2
Cystic fibrosis 2 0 0 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 type 1A 2 0 0 0 2
Leigh syndrome 2 0 0 0 2
Myasthenia, limb-girdle, familial 2 0 0 0 2
Niemann-Pick disease type C2 2 0 0 0 2
Osteopetrosis autosomal recessive 4 0 0 2 0 2
Polymicrogyria, asymmetric 0 1 1 0 2
Polymicrogyria, bilateral frontoparietal 2 0 0 0 2
Raine syndrome 0 1 1 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, type 1 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
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
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 type 2F 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
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
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 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
Distal myopathy Markesbery-Griggs type 0 0 1 0 1
Dystonia 6, torsion 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, hydroxylysine-deficient 0 1 0 0 1
Ehlers-Danlos-like syndrome due to tenascin-X deficiency 0 0 1 0 1
Epilepsy, progressive myoclonic 3 0 0 1 0 1
Exudative vitreoretinopathy 4 0 0 1 0 1
Familial cancer of breast 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
Griscelli syndrome type 2 0 1 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 2 0 1 0 0 1
Hereditary diffuse gastric cancer 0 0 1 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
KBG syndrome 0 1 0 0 1
L-2-hydroxyglutaric aciduria 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2J 0 1 0 0 1
Lissencephaly 1 0 0 1 0 1
Lymphoproliferative syndrome 1, X-linked 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
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 1 0 1
Menkes kinky-hair syndrome 1 0 0 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
Methylmalonic aciduria cblA type 1 0 0 0 1
Methylmalonic aciduria cblB type 1 0 0 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
Muscular dystrophy, congenital, megaconial type 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
Nemaline myopathy 3 0 1 0 0 1
Neurodegeneration with brain iron accumulation 4 0 0 1 0 1
Neurofibromatosis, type 1 0 0 1 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
Parkinson disease 9 0 0 1 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
Pseudohypoaldosteronism type 1 autosomal recessive 0 1 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
Spastic ataxia 5, autosomal recessive 0 1 0 0 1
Spastic paraplegia 17 0 1 0 0 1
Spastic paraplegia 2 0 1 0 0 1
Spastic paraplegia 4, autosomal dominant 0 1 0 0 1
Spinocerebellar ataxia 19 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
Thrombocytopenia, X-linked 1 0 0 0 1
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive 0 0 1 0 1
Timothy syndrome 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
Wilson disease 0 1 0 0 1
X-linked severe combined immunodeficiency 0 1 0 0 1

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