ClinVar Miner

Variants from Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics

Location: India — Primary collection method: research
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
3 73 12 0 0 88

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GNPTAB 0 20 0 20
CLASP1, RNU4ATAC 0 3 0 3
GNPTG 0 2 0 2
RET 0 1 1 2
RYR1 0 2 0 2
ZFPM2 0 0 2 2
ABHD5 1 0 0 1
ACE 0 1 0 1
ALDH18A1 0 1 0 1
ALG1 0 1 0 1
ALG3 0 1 0 1
ALMS1 1 0 0 1
ANTXR2 0 1 0 1
ARMC9 0 1 0 1
ARSB 0 1 0 1
BHLHA9 0 1 0 1
CASK 0 1 0 1
CDK8 1 0 0 1
CNTNAP1 0 1 0 1
COL6A2 0 1 0 1
COL6A3 0 1 0 1
CRELD1 0 1 0 1
CRTAP 0 1 0 1
DACT3 0 0 1 1
ENPP1 0 1 0 1
EPG5 0 1 0 1
ERI1 0 1 0 1
F8 0 1 0 1
FBN1 0 1 0 1
FBN2 0 1 0 1
FGFR3 0 0 1 1
FKTN 0 1 0 1
GJC2 0 1 0 1
GMPPB 0 1 0 1
GPC3 0 1 0 1
GUSB 0 1 0 1
HERC1 0 1 0 1
HSPG2 0 1 0 1
KLHL40 0 1 0 1
LAMA2 0 1 0 1
LOX, SRFBP1 0 0 1 1
MKS1 0 1 0 1
MYO18A 0 0 1 1
NBN 0 1 0 1
NIPBL 0 0 1 1
NOG 0 1 0 1
OCLN 0 1 0 1
PAX1 0 1 0 1
PCDH12 0 1 0 1
PCDH19 0 1 0 1
PDE10A 0 1 0 1
PEX1 0 1 0 1
PPIB, SNX22 0 0 1 1
PPT1 0 1 0 1
RPGRIP1 0 1 0 1
RXYLT1 0 1 0 1
SGSH 0 1 0 1
SLC25A15 0 0 1 1
SYNE1 0 1 0 1
TSC1 0 1 0 1
TTN 0 0 1 1
UCHL1 0 1 0 1
ZNF778 0 0 1 1

Condition and significance breakdown #

Total conditions: 63
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Condition pathogenic likely pathogenic uncertain significance total
I cell disease; Pseudo-Hurler polydystrophy 0 20 0 20
Osteodysplastic primordial dwarfism, type 1 0 3 0 3
Diaphragmatic hernia 3 0 0 2 2
Marfan syndrome; Congenital contractural arachnodactyly 0 2 0 2
Mucolipidosis III Gamma 0 2 0 2
Myopathy, Central Core 0 2 0 2
Abnormal facial shape; Aganglionic megacolon 0 0 1 1
Abnormal facial shape; Intellectual disability 0 0 1 1
Abnormal facial shape; Multiple joint contractures; Hydrops fetalis 0 0 1 1
Abnormal facial shape; Pleural effusion; Interphalangeal joint contracture of finger; Emphysema; Increased number of skin folds 0 0 1 1
Alstrom syndrome 1 0 0 1
Arterial calcification of infancy 0 1 0 1
Atrioventricular septal defect 2 0 1 0 1
Band-like calcification with simplified gyration and polymicrogyria 0 1 0 1
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 1 0 1
Camptosynpolydactyly, complex 0 1 0 1
Ceroid lipofuscinosis neuronal 1 0 1 0 1
Congenital disorder of glycosylation type 1D 0 1 0 1
Congenital disorder of glycosylation type 1K 0 1 0 1
Cornelia de Lange syndrome 1 0 0 1 1
Cutis laxa-corneal clouding-oligophrenia syndrome 0 1 0 1
Dyskinesia, limb and orofacial, infantile-onset 0 1 0 1
Early infantile epileptic encephalopathy 9 0 1 0 1
Ebstein anomaly of the tricuspid valve; Abnormal heart morphology; Abnormal facial shape; Congenital diaphragmatic hernia; Ventriculomegaly; Stillbirth; Common atrium 1 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 1 0 1
Exudative retinopathy; Cerebellar ataxia; Dystonia; Abnormal facial shape 0 1 0 1
Fukuyama congenital muscular dystrophy 0 1 0 1
Global developmental delay; Coarse facial features; Unilateral renal agenesis; Abnormality of finger 0 1 0 1
Hereditary factor VIII deficiency disease 0 1 0 1
Hirschsprung disease 1 0 1 0 1
Hyaline fibromatosis syndrome 0 1 0 1
Intellectual disability; Progressive spastic paraparesis 0 0 1 1
JOUBERT SYNDROME 30 0 1 0 1
Leber congenital amaurosis 6 0 1 0 1
Leber congenital amaurosis 6; Meckel syndrome type 1 0 1 0 1
Lethal congenital contracture syndrome 7 0 1 0 1
Leukodystrophy, hypomyelinating, 2 0 1 0 1
Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability 0 1 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4 0 1 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 1
Microcephaly, normal intelligence and immunodeficiency 0 1 0 1
Mucopolysaccharidosis type VI 0 1 0 1
Mucopolysaccharidosis type VII 0 1 0 1
Mucopolysaccharidosis, MPS-III-A 0 1 0 1
Muscular dystrophy 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 0 1 0 1
Nemaline myopathy 8 0 1 0 1
Obesity; Global developmental delay; Seizures; Microcephaly 0 0 1 1
Osteogenesis imperfecta 0 0 1 1
Osteogenesis imperfecta type 7 0 1 0 1
Otofaciocervical syndrome 2 0 1 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 0 1 0 1
Renal dysplasia 0 1 0 1
Schwartz Jampel syndrome type 1 0 1 0 1
Simpson-Golabi-Behmel syndrome 0 1 0 1
Spastic paraplegia 79, autosomal recessive 0 1 0 1
Tarsal carpal coalition syndrome 0 1 0 1
Thanatophoric dysplasia type 1 0 0 1 1
Triglyceride storage disease with ichthyosis 1 0 0 1
Tuberous sclerosis 1 0 1 0 1
Ullrich congenital muscular dystrophy 1 0 1 0 1
Vici syndrome 0 1 0 1

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