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
21 17 0 0 0 38

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic total
NPR2 4 0 4
CHST3 3 0 3
C8orf37 0 2 2
ECEL1 2 0 2
NFIX 1 1 2
ROR2 0 2 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
BBIP1 1 0 1
BBS1 0 1 1
BBS10 1 0 1
BBS12 0 1 1
BBS4 0 1 1
DVL3 0 1 1
GLI3 0 1 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
TBX5 0 1 1
TRPS1 1 0 1
UMOD 0 1 1
VIPAS39 0 1 1
VPS33B 0 1 1

Condition and significance breakdown #

Total conditions: 27
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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
Bardet-Biedl syndrome 21 0 2 2
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
Robinow syndrome, autosomal recessive 0 2 2
Abnormality of the thumb; Atrial septal defect; Small thenar eminence; Clubbing of fingers; Blue nevus; Abnormality of radial ray 0 1 1
Arthrogryposis multiplex congenita neurogenic type 1 0 1
Arthrogryposis, renal dysfunction, and cholestasis 1 0 1 1
Arthrogryposis, renal dysfunction, and cholestasis 2 0 1 1
Bardet-Biedl syndrome 1 0 1 1
Bardet-Biedl syndrome 10 1 0 1
Bardet-Biedl syndrome 12 0 1 1
Bardet-Biedl syndrome 4 0 1 1
Familial juvenile gout 0 1 1
Fanconi-Bickel syndrome 0 1 1
Hyperekplexia 1 1 0 1
Hyperreflexia; Ptosis; Postaxial hand polydactyly; Umbilical hernia; Babinski sign; Polysyndactyly of hallux; Basilar invagination; Short palpebral fissure 0 1 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Obesity; Downslanted palpebral fissures; Narrow forehead; Round face; Specific learning disability; Micropenis; Rod-cone dystrophy; Postaxial hand polydactyly; Flat nasal alae 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
Short stature; Dental crowding; Genu valgum; Anteverted nares; Clinodactyly of the 5th finger; Short toe; Lumbar hyperlordosis; Short finger; Tented upper lip vermilion; Midface retrusion; Neurodevelopmental delay 0 1 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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