ClinVar Miner

Variants from Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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 total
146 67 32 5 2 252

Gene and significance breakdown #

Total genes and gene combinations: 99
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GAA 13 8 2 0 0 23
PCCA 20 0 0 0 2 22
CYP21A2, LOC106780800 1 5 14 0 0 20
KCNQ1 16 0 0 0 0 16
BCKDHB 10 0 0 0 0 10
BCKDHA 8 0 0 0 0 8
COL1A1 3 5 0 0 0 8
FBP1 3 4 0 0 0 7
BTK 6 0 0 0 0 6
MMUT 6 0 0 0 0 6
PCCB 6 0 0 0 0 6
COL1A2 2 3 0 0 0 5
SLC26A2 3 2 0 0 0 5
COL2A1 0 4 0 0 0 4
ALDH7A1 0 2 0 0 0 2
CANT1 2 0 0 0 0 2
CFTR 1 1 0 0 0 2
DBT 2 0 0 0 0 2
DPAGT1, LOC126861360 0 2 0 0 0 2
FBN1 2 0 0 0 0 2
HGD 1 0 1 0 0 2
IFT81 1 1 0 0 0 2
KCNJ1 2 0 0 0 0 2
LSS 0 0 2 0 0 2
MMAA 2 0 0 0 0 2
MMAB 2 0 0 0 0 2
NPC1 0 1 1 0 0 2
PDHX 1 0 1 0 0 2
POLG, POLGARF 0 2 0 0 0 2
PROM1 1 1 0 0 0 2
SCN1A 2 0 0 0 0 2
SCN5A 2 0 0 0 0 2
TRIP11 1 1 0 0 0 2
TUBGCP6 0 2 0 0 0 2
WDR19 0 1 1 0 0 2
ABCA3 0 1 0 0 0 1
AGO2, LOC126860544 0 0 0 1 0 1
AKR1D1 0 0 1 0 0 1
AVPR2 0 1 0 0 0 1
CACNA1E 1 0 0 0 0 1
CACNA1G 1 0 0 0 0 1
CEP290 1 0 0 0 0 1
CFTR, LOC111674475 1 0 0 0 0 1
CPLANE1 0 0 1 0 0 1
CPS1 0 1 0 0 0 1
CREBBP 0 0 0 1 0 1
CRLF1 0 1 0 0 0 1
CSNK2A1 1 0 0 0 0 1
DGUOK, LOC129934096 0 1 0 0 0 1
DPAGT1 0 1 0 0 0 1
DYRK1A 0 1 0 0 0 1
DYSF 0 1 0 0 0 1
ELANE 0 1 0 0 0 1
EVC2 1 0 0 0 0 1
F11 0 1 0 0 0 1
FBXL4 0 1 0 0 0 1
FGF12 0 1 0 0 0 1
FGFR3 1 0 0 0 0 1
GAREM2, HADHA 0 1 0 0 0 1
GPR143 0 1 0 0 0 1
HECW2 0 0 0 1 0 1
HMGCS2 1 0 0 0 0 1
IFT140, LOC105371046 0 0 1 0 0 1
IFT43 0 1 0 0 0 1
IMMT 0 0 1 0 0 1
KCNH2 1 0 0 0 0 1
KCNQ1, KCNQ1OT1 1 0 0 0 0 1
KCNQ2 1 0 0 0 0 1
KMT2D 1 0 0 0 0 1
LDLR 1 0 0 0 0 1
LHX3 0 1 0 0 0 1
LOC130002203, NANS, TRIM14 0 1 0 0 0 1
MMAB, MVK 1 0 0 0 0 1
MMACHC 1 0 0 0 0 1
MOCS2 1 0 0 0 0 1
MYH6 0 0 1 0 0 1
NBEA 0 0 0 1 0 1
NEB 0 0 1 0 0 1
NEK1 1 0 0 0 0 1
NR0B1 0 1 0 0 0 1
OTC 1 0 0 0 0 1
PEX7 1 0 0 0 0 1
PIGB 1 0 0 0 0 1
PNP 0 0 1 0 0 1
PRF1 0 1 0 0 0 1
PTPN11 1 0 0 0 0 1
RANBP2 0 1 0 0 0 1
SCN2A 0 1 0 0 0 1
SH3TC2 1 0 0 0 0 1
SLC25A12 0 1 0 0 0 1
SRD5A3 0 0 1 0 0 1
STXBP1 1 0 0 0 0 1
TMEM53 0 0 1 0 0 1
TMEM67 1 0 0 0 0 1
TRAPPC2L 0 0 1 0 0 1
TRRAP 0 0 0 1 0 1
UGP2 1 0 0 0 0 1
WNT7A 1 0 0 0 0 1
WWOX 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 96
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Propionic acidemia 26 0 0 0 2 28
Glycogen storage disease, type II 13 8 2 0 0 23
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 5 14 0 0 20
Maple syrup urine disease 20 0 0 0 0 20
Long QT syndrome 1 17 0 0 0 0 17
Fructose-biphosphatase deficiency 3 4 0 0 0 7
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 6 0 0 0 0 6
Osteogenesis imperfecta 2 4 0 0 0 6
Osteogenesis imperfecta, perinatal lethal 2 4 0 0 0 6
X-linked agammaglobulinemia 6 0 0 0 0 6
Achondrogenesis type II 0 4 0 0 0 4
Cone-rod dystrophy 12 1 2 0 0 0 3
Cystic fibrosis 2 1 0 0 0 3
Methylmalonic aciduria, cblB type 3 0 0 0 0 3
Achondrogenesis, type IA 1 1 0 0 0 2
Achondrogenesis, type IB 2 0 0 0 0 2
Alkaptonuria 1 0 1 0 0 2
Atelosteogenesis type II 1 1 0 0 0 2
Bartter disease type 2 2 0 0 0 0 2
Congenital myasthenic syndrome 13 0 2 0 0 0 2
Cranioectodermal dysplasia 4 0 1 1 0 0 2
DPAGT1-congenital disorder of glycosylation 0 2 0 0 0 2
Desbuquois dysplasia 1 2 0 0 0 0 2
Hypotrichosis 14 0 0 2 0 0 2
Long QT syndrome 3 2 0 0 0 0 2
Marfan syndrome 2 0 0 0 0 2
Methylmalonic aciduria, cblA type 2 0 0 0 0 2
Microcephaly and chorioretinopathy 1 0 2 0 0 0 2
Niemann-Pick disease, type C1 0 1 1 0 0 2
Progressive sclerosing poliodystrophy 0 2 0 0 0 2
Pyridoxine-dependent epilepsy 0 2 0 0 0 2
Pyruvate dehydrogenase E3-binding protein deficiency 1 0 1 0 0 2
Short-rib thoracic dysplasia 19 with or without polydactyly 1 1 0 0 0 2
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 0 0 1
Cobalamin C disease 1 0 0 0 0 1
Congenital adrenal hypoplasia, X-linked 0 1 0 0 0 1
Congenital bile acid synthesis defect 2 0 0 1 0 0 1
Congenital hyperammonemia, type I 0 1 0 0 0 1
Craniotubular dysplasia, Ikegawa type 0 0 1 0 0 1
DYRK1A-related intellectual disability syndrome 0 1 0 0 0 1
Developmental and epileptic encephalopathy 6B 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 28 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 39 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 47 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 69 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 80 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 83 1 0 0 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 0 1 0 1
Diastrophic dysplasia 0 1 0 0 0 1
Ellis-van Creveld syndrome 1 0 0 0 0 1
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0 0 1 0 0 1
Familial acute necrotizing encephalopathy 0 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 0 1 0 0 0 1
Hereditary factor XI deficiency disease 0 1 0 0 0 1
Hypercholesterolemia, familial, 1 1 0 0 0 0 1
Hypertrophic cardiomyopathy 14 0 0 1 0 0 1
Interstitial lung disease due to ABCA3 deficiency 0 1 0 0 0 1
Joubert syndrome 5 1 0 0 0 0 1
Kabuki syndrome 1 1 0 0 0 0 1
Lessel-Kreienkamp syndrome 0 0 0 1 0 1
Long QT syndrome 2 1 0 0 0 0 1
Meckel syndrome, type 3 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 13 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 1 0 0 0 1
Mitochondrial trifunctional protein deficiency 0 1 0 0 0 1
Nemaline myopathy 2 0 0 1 0 0 1
Nephrogenic syndrome of inappropriate antidiuresis 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 0 1 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 0 1 0 1
Neutropenia, severe congenital, 1, autosomal dominant 0 1 0 0 0 1
Non-acquired combined pituitary hormone deficiency with spine abnormalities 0 1 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 1
Nystagmus 6, congenital, X-linked 0 1 0 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 0 1
Orofaciodigital syndrome type 6 0 0 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 0 0 1
Purine-nucleoside phosphorylase deficiency 0 0 1 0 0 1
Rhizomelic chondrodysplasia punctata type 1 1 0 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 0 0 0 1 0 1
SRD5A3-congenital disorder of glycosylation 0 0 1 0 0 1
Saldino-Mainzer syndrome 0 0 1 0 0 1
Schinzel phocomelia syndrome 1 0 0 0 0 1
See cases 0 0 1 0 0 1
Severe myoclonic epilepsy in infancy 1 0 0 0 0 1
Short-rib thoracic dysplasia 18 with polydactyly 0 1 0 0 0 1
Short-rib thoracic dysplasia 6 with or without polydactyly 1 0 0 0 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, Genevieve type 0 1 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 1 0 0 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 1

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