ClinVar Miner

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

Location: India — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
83 98 44 0 0 223

Gene and significance breakdown #

Total genes and gene combinations: 137
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
HEXA 26 7 0 33
GBA, LOC106627981 2 11 1 13
TPP1 0 8 1 9
DYSF 2 3 1 6
CAPN3 3 1 0 4
DMD 0 3 1 4
PPT1 0 4 0 4
TYR 4 0 0 4
DYNC2H1 1 2 0 3
GNE 3 0 0 3
ABCA12 0 2 0 2
ADGRG1 2 0 0 2
CLCN7 0 0 2 2
DOK7 2 0 0 2
ETHE1 1 0 1 2
FAM20C 0 1 1 2
G6PC 2 0 0 2
GCDH 0 2 0 2
GM2A 0 2 0 2
MFSD8 0 0 2 2
NPC2 2 0 0 2
SCN1A 0 1 1 2
SPG11 0 1 1 2
TTN 0 1 1 2
TUBB2B 0 1 1 2
AAAS 1 0 0 1
ABCA12, SNHG31 0 1 0 1
ABCD1 0 1 0 1
ACAT1 0 1 0 1
ACTA1 0 1 0 1
ADAMTSL2 0 0 1 1
AFG3L2 0 1 0 1
AGRN 0 0 1 1
ALAD 0 0 1 1
ALS2 1 0 0 1
ANAPC15, LRTOMT, MYH9 0 1 0 1
ANKRD11 0 1 0 1
APTX 1 0 0 1
AR 0 0 1 1
ARID2 1 0 0 1
ASPA, SPATA22 1 0 0 1
ASS1 0 1 0 1
ATG4A, COL4A5, COL4A6 0 1 0 1
ATP7A 1 0 0 1
ATP7B 0 1 0 1
BRAF 1 0 0 1
BRCA1 0 1 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 1
C19orf12 0 0 1 1
CA8 0 1 0 1
CACNA1C 0 0 1 1
CACNA1S 1 0 0 1
CDK13 0 0 1 1
CEP290 1 0 0 1
CFTR 1 0 0 1
CHKB, CHKB-CPT1B 0 1 0 1
COL1A1 1 0 0 1
COL4A5 0 1 0 1
COL4A5, COL4A6 0 1 0 1
COL6A1 0 0 1 1
COL6A3 0 1 0 1
COL7A1 1 0 0 1
CYP21A2, LOC106780800 1 0 0 1
DCHS1 1 0 0 1
DIPK1A, RPL5 1 0 0 1
ELOVL4 0 1 0 1
EXTL3 0 1 0 1
FBN2 0 0 1 1
FBXO7 0 0 1 1
FKRP 1 0 0 1
FLNC 0 0 1 1
GALC 1 0 0 1
GCH1 0 1 0 1
GLB1 1 0 0 1
GLB1, TMPPE 0 1 0 1
HEXB 1 0 0 1
HGSNAT 0 1 0 1
IBA57 0 1 0 1
IL2RG 0 1 0 1
KCTD7 0 0 1 1
KIF2A 0 0 1 1
LAMA2 0 1 0 1
LINS1 0 1 0 1
LIPA 0 1 0 1
LMNA 0 1 0 1
LOC102724058, SCN1A 0 0 1 1
LRP5 0 0 1 1
LTBP4 1 0 0 1
LZTR1 0 1 0 1
MLC1 0 0 1 1
MMAA 1 0 0 1
MMAB 1 0 0 1
MORC2 0 0 1 1
NDUFAF6 1 0 0 1
NF1 0 0 1 1
NIPBL 0 0 1 1
NPHS1 1 0 0 1
OTC 1 0 0 1
PAFAH1B1 0 0 1 1
PANK2 0 1 0 1
PC 0 1 0 1
PCARE 1 0 0 1
PDHA1 0 1 0 1
PGAP1 0 0 1 1
PIGG 0 0 1 1
PIK3CD 1 0 0 1
PLOD1 0 1 0 1
PLP1, RAB9B 0 1 0 1
POU1F1 0 1 0 1
PRF1 0 1 0 1
PSEN1 0 0 1 1
RAB27A 0 1 0 1
RET 0 1 0 1
RPS19 1 0 0 1
SCN1A, SCN9A 0 0 1 1
SCN2A 1 0 0 1
SCNN1B 0 1 0 1
SERAC1 1 0 0 1
SERPINH1 0 0 1 1
SH2D1A 0 1 0 1
SLC17A5 0 1 0 1
SMARCA4 0 0 1 1
SMC1A 1 0 0 1
SPAST 0 1 0 1
SUCLG1 0 0 1 1
SURF1 1 0 0 1
SYNGAP1 0 1 0 1
SZT2 0 0 1 1
TAZ 0 1 0 1
TCOF1 0 1 0 1
TGM1 0 1 0 1
TNNI3 0 0 1 1
TUBGCP6 0 0 1 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 1
WT1 0 1 0 1
XPA 0 1 0 1
XPC 0 1 0 1

Condition and significance breakdown #

Total conditions: 134
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Tay-Sachs disease 26 7 0 33
Gaucher's disease, type 1 2 9 0 11
Ceroid lipofuscinosis neuronal 2 0 8 0 8
Limb-girdle muscular dystrophy, type 2B 2 3 1 6
Ceroid lipofuscinosis neuronal 1 0 4 0 4
Duchenne muscular dystrophy 0 3 1 4
Limb-girdle muscular dystrophy, type 2A 3 1 0 4
Tyrosinase-negative oculocutaneous albinism 4 0 0 4
Alport syndrome 1, X-linked recessive 0 3 0 3
Nonaka myopathy 3 0 0 3
Severe myoclonic epilepsy in infancy 0 1 2 3
Short-rib thoracic dysplasia 3 with or without polydactyly 1 2 0 3
Acute neuronopathic Gaucher's disease 0 2 0 2
Autosomal recessive congenital ichthyosis 4A 0 2 0 2
Ceroid lipofuscinosis neuronal 7 0 0 2 2
Diamond-Blackfan anemia 1 2 0 0 2
Ethylmalonic encephalopathy 1 0 1 2
Glutaric aciduria, type 1 0 2 0 2
Glycogen storage disease type 1A 2 0 0 2
Infantile GM1 gangliosidosis 1 1 0 2
Leigh syndrome 2 0 0 2
Myasthenia, limb-girdle, familial 2 0 0 2
Niemann-Pick disease type C2 2 0 0 2
Osteopetrosis autosomal recessive 4 0 0 2 2
Polymicrogyria, asymmetric 0 1 1 2
Polymicrogyria, bilateral frontoparietal 2 0 0 2
Raine syndrome 0 1 1 2
Spastic paraplegia 11, autosomal recessive 0 1 1 2
Tay-Sachs disease, variant AB 0 2 0 2
Xeroderma pigmentosum, type 1 0 2 0 2
3-Methylglutaconic aciduria type 2 0 1 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 1
Adrenoleukodystrophy 0 1 0 1
Alzheimer disease, type 3 0 0 1 1
Amyotrophic lateral sclerosis type 2 1 0 0 1
Ataxia-oculomotor apraxia type 1 1 0 0 1
Autosomal recessive congenital ichthyosis 1 0 1 0 1
Autosomal recessive congenital ichthyosis 4B 0 1 0 1
Bethlem myopathy 1 0 1 0 1
Breast-ovarian cancer, familial 1 0 1 0 1
COFFIN-SIRIS SYNDROME 6 1 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 1
Cardiomyopathy, familial hypertrophic, 26 0 0 1 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 0 1 0 1
Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 0 0 1 1
Charcot-Marie-Tooth disease, axonal, type 2z 0 0 1 1
Citrullinemia type I 0 1 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 1
Coffin-Siris syndrome 1 0 0 1 1
Congenital contractural arachnodactyly 0 0 1 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 1 1
Congenital muscular dystrophy, LMNA-related 0 1 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 1
Cornelia de Lange syndrome 1 0 0 1 1
Cortical dysplasia, complex, with other brain malformations 3 0 0 1 1
Crigler Najjar syndrome, type 1 1 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 1 0 0 1
Cystic fibrosis 1 0 0 1
Deafness, autosomal recessive 63 0 1 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 1
Dilated cardiomyopathy 2A 0 0 1 1
Distal myopathy Markesbery-Griggs type 0 0 1 1
Early infantile epileptic encephalopathy 11 1 0 0 1
Early infantile epileptic encephalopathy 18 0 0 1 1
Ehlers-Danlos syndrome, hydroxylysine-deficient 0 1 0 1
Epilepsy, progressive myoclonic 3 0 0 1 1
Exudative vitreoretinopathy 4 0 0 1 1
Finnish congenital nephrotic syndrome 1 0 0 1
Frasier syndrome 0 1 0 1
Fukuyama congenital muscular dystrophy 1 0 0 1
GTP cyclohydrolase I deficiency 0 1 0 1
Galactosylceramide beta-galactosidase deficiency 1 0 0 1
Geleophysic dysplasia 1 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 7 0 0 1 1
Glucocorticoid deficiency with achalasia 1 0 0 1
Griscelli syndrome type 2 0 1 0 1
Hemophagocytic lymphohistiocytosis, familial, 2 0 1 0 1
Hypokalemic periodic paralysis 1 1 0 0 1
Hypospadias 1, X-linked 0 0 1 1
Ichthyosis, spastic quadriplegia, and mental retardation 0 1 0 1
Immunodeficiency 14 1 0 0 1
Immunoskeletal dysplasia with neurodevelopmental abnormalities 0 1 0 1
KBG syndrome 0 1 0 1
Limb-girdle muscular dystrophy, type 2J 0 1 0 1
Lissencephaly 1 0 0 1 1
Lymphoproliferative syndrome 1, X-linked 0 1 0 1
Lysosomal acid lipase deficiency 0 1 0 1
Meckel syndrome type 4 1 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 1 1
Menkes kinky-hair syndrome 1 0 0 1
Mental retardation, autosomal recessive 27 0 1 0 1
Mental retardation, autosomal recessive 42 0 0 1 1
Mental retardation, autosomal recessive 5 0 1 0 1
Mental retardation, autosomal recessive 53 0 0 1 1
Merosin deficient congenital muscular dystrophy 0 1 0 1
Methylmalonic aciduria cblA type 1 0 0 1
Methylmalonic aciduria cblB type 1 0 0 1
Microcephaly with chorioretinopathy, autosomal recessive 0 0 1 1
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 0 0 1 1
Mucopolysaccharidosis, MPS-III-C 0 1 0 1
Multiple endocrine neoplasia, type 2a 0 1 0 1
Multiple mitochondrial dysfunctions syndrome 3 0 1 0 1
Muscular dystrophy, congenital, megaconial type 0 1 0 1
Myasthenic syndrome, congenital, 8 0 0 1 1
Nemaline myopathy 3 0 1 0 1
Neurodegeneration with brain iron accumulation 4 0 0 1 1
Neurofibromatosis, type 1 0 0 1 1
Noonan syndrome 10 0 1 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 1
Osteogenesis imperfecta type 10 0 0 1 1
Osteogenesis imperfecta type I 1 0 0 1
Parkinson disease 15 0 0 1 1
Pigmentary pallidal degeneration 0 1 0 1
Pituitary hormone deficiency, combined 1 0 1 0 1
Porphobilinogen synthase deficiency 0 0 1 1
Pseudohypoaldosteronism type 1 autosomal recessive 0 1 0 1
Pyruvate carboxylase deficiency 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 1
Retinitis pigmentosa 54 1 0 0 1
Salla disease 0 1 0 1
Sandhoff disease 1 0 0 1
Spastic ataxia 5, autosomal recessive 0 1 0 1
Spastic paraplegia 17 0 1 0 1
Spastic paraplegia 2 0 1 0 1
Spastic paraplegia 4, autosomal dominant 0 1 0 1
Spongy degeneration of central nervous system 1 0 0 1
Subacute neuronopathic Gaucher's disease 0 0 1 1
Timothy syndrome 0 0 1 1
Treacher Collins syndrome 1 0 1 0 1
Ullrich congenital muscular dystrophy 1 0 0 1 1
Van Maldergem syndrome 1 1 0 0 1
Wilson disease 0 1 0 1
X-linked severe combined immunodeficiency 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.