ClinVar Miner

Variants from GenePathDx,Causeway Health Care Private Ltd

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
11 15 3 1 0 30

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CYP21A2, LOC106780800 0 4 0 0 4
CP 0 1 0 1 2
GNE 2 0 0 0 2
ADAMTS13 0 1 0 0 1
AGXT 0 1 0 0 1
APC 1 0 0 0 1
AR 0 1 0 0 1
ATP7B 1 0 0 0 1
AVPR2 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 1
CFTR 0 0 1 0 1
COL1A1 0 0 1 0 1
COL4A5 1 0 0 0 1
CUL3 0 1 0 0 1
DGKE 0 1 0 0 1
DMD 0 0 1 0 1
EXT1 1 0 0 0 1
LEP 0 1 0 0 1
LPL 0 1 0 0 1
MSH2 1 0 0 0 1
PC 0 1 0 0 1
PROP1 0 1 0 0 1
RET 1 0 0 0 1
SOS1 1 0 0 0 1
TMPRSS3 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 4 0 0 4
Deficiency of ferroxidase 0 1 0 1 2
GNE myopathy 2 0 0 0 2
Alport syndrome 1, X-linked recessive 1 0 0 0 1
Congenital generalized lipodystrophy type 2 1 0 0 0 1
Deafness, autosomal recessive 8 0 1 0 0 1
Duchenne muscular dystrophy 0 0 1 0 1
Familial adenomatous polyposis 1 1 0 0 0 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia 1 0 0 0 1
Hereditary pancreatitis 0 0 1 0 1
Hyperapobetalipoproteinemia 0 1 0 0 1
Leptin deficiency or dysfunction 0 1 0 0 1
Lynch syndrome I 1 0 0 0 1
Multiple congenital exostosis 1 0 0 0 1
Nephrogenic diabetes insipidus, X-linked 1 0 0 0 1
Nephrotic syndrome, type 7 0 1 0 0 1
Noonan syndrome 4 1 0 0 0 1
Osteogenesis imperfecta 0 0 1 0 1
Partial androgen insensitivity syndrome 0 1 0 0 1
Pituitary hormone deficiency, combined 2 0 1 0 0 1
Primary hyperoxaluria, type I 0 1 0 0 1
Pseudohypoaldosteronism, type 2 0 1 0 0 1
Pyruvate carboxylase deficiency 0 1 0 0 1
Upshaw-Schulman syndrome 0 1 0 0 1
Wilson disease 1 0 0 0 1

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