ClinVar Miner

Variants from Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences

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
20 5 0 0 0 25

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic total
NPR2 4 0 4
CHST3 3 0 3
ECEL1 2 0 2
NFIX 1 1 2
TENM3 0 2 2
TYMP 2 0 2
ARPC1A, ARPC1B, ASB4, ASNS, ATP5MF, ATP5MF-PTCD1, AZGP1, BAIAP2L1, BET1, BHLHA15, BRI3, BUD31, C7orf76, CALCR, CASD1, CDK6, COL1A2, COPS6, CPSF4, CYP3A4, CYP3A43, CYP3A5, CYP3A7, DLX5, DLX6, DYNC1I1, FAM200A, GJC3, GNG11, GNGT1, HEPACAM2, KPNA7, LMTK2, MIR489, NPTX2, OCM2, OR2AE1, PDAP1, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, PTCD1, SAMD9, SAMD9L, SDHAF3, SEM1, SGCE, SLC25A13, SMURF1, TAC1, TECPR1, TFPI2, TMEM130, TRIM4, TRRAP, VPS50, ZKSCAN1, ZKSCAN5, ZNF3, ZNF394, ZNF655, ZNF789, ZSCAN21, ZSCAN25 1 0 1
BBS10 1 0 1
GLRA1 1 0 1
LGI4 1 0 1
NPR2, SPAG8 1 0 1
PC 1 0 1
RAB3GAP1, ZRANB3 1 0 1
SLC2A2 0 1 1
TRPS1 1 0 1
UMOD 0 1 1

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic total
Acromesomelic dysplasia Maroteaux type 5 0 5
Spondyloepiphyseal dysplasia with congenital joint dislocations 3 0 3
Distal arthrogryposis type 5D 2 0 2
Microphthalmia, isolated, with coloboma 9 0 2 2
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2 0 2
Arthrogryposis multiplex congenita neurogenic type 1 0 1
Bardet-Biedl syndrome 10 1 0 1
Familial juvenile gout 0 1 1
Fanconi-Bickel syndrome 0 1 1
Hyperekplexia hereditary 1 0 1
Laryngomalacia; Megalocornea; Global developmental delay; Pointed chin; Hypoplasia of the corpus callosum; Blue sclerae; Proptosis; Proximal placement of thumb; Short nose; Strabismus; High, narrow palate; Distal ulnar hypoplasia; Long toe; Midface retrusion; Long fingers 0 1 1
Marshall-Smith syndrome 1 0 1
Pyruvate carboxylase deficiency 1 0 1
Split-hand/foot malformation 1 1 0 1
Trichorhinophalangeal dysplasia type I 1 0 1
Warburg micro syndrome 1 1 0 1

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