ClinVar Miner

Variants from Molecular Endocrinology Laboratory, Christian Medical College

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
36 21 76 0 0 133

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA1 21 6 15 42
BRCA2 9 1 25 35
WFS1 5 2 1 8
CYP11B1, LOC106799833 1 3 1 5
VPS13B 0 0 5 5
CYP21A2, LOC106780800 0 3 1 4
MC4R 0 2 2 4
BBS4 0 0 3 3
BRCA1, LOC126862571 0 0 3 3
ASTN2, TRIM32 0 0 2 2
BBS7 0 0 2 2
CAST, LOC101929710, PCSK1 0 1 1 2
CEP290 0 0 2 2
MKS1 0 0 2 2
TTC8 0 0 2 2
WDPCP 0 0 2 2
BBIP1 0 0 1 1
BBS1 0 1 0 1
BBS1, ZDHHC24 0 0 1 1
BBS10 0 0 1 1
BBS2 0 1 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 1 1
LEPR 0 0 1 1
LOC129933280, POMC 0 1 0 1
NR0B2, NUDC 0 0 1 1
SDCCAG8 0 0 1 1

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance total
Breast-ovarian cancer, familial, susceptibility to, 1 21 6 18 45
Breast-ovarian cancer, familial, susceptibility to, 2 9 1 25 35
Wolfram syndrome 1 5 2 1 8
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 3 2 5
Cohen syndrome 0 0 5 5
Deficiency of steroid 11-beta-monooxygenase 1 3 1 5
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 2 2 4
Bardet-Biedl syndrome 4 0 0 3 3
Bardet-Biedl syndrome 1 0 1 1 2
Bardet-Biedl syndrome 11 0 0 2 2
Bardet-Biedl syndrome 13 0 0 2 2
Bardet-Biedl syndrome 14 0 0 2 2
Bardet-Biedl syndrome 15 0 0 2 2
Bardet-Biedl syndrome 7 0 0 2 2
Bardet-Biedl syndrome 8 0 0 2 2
Obesity 0 1 1 2
Obesity due to prohormone convertase I deficiency 0 1 1 2
Bardet-Biedl syndrome 10 0 0 1 1
Bardet-Biedl syndrome 16 0 0 1 1
Bardet-Biedl syndrome 18 0 0 1 1
Bardet-Biedl syndrome 2 0 1 0 1
Obesity due to leptin receptor gene deficiency 0 0 1 1

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