ClinVar Miner

Variants from Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology

Location: India  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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 likely pathogenic, low penetrance total
51 29 33 1 0 1 115

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign likely pathogenic, low penetrance total
FANCA 12 2 9 0 0 23
FANCG 5 2 2 0 0 9
MPL 4 4 1 0 0 9
AR 6 2 0 0 0 8
FANCD2, LOC107303338 0 1 6 0 0 7
TCF3 0 3 3 0 0 6
FANCA, ZNF276 1 0 4 0 0 5
SRD5A2 4 1 0 0 0 5
ITPKB 1 2 1 0 0 4
NR5A1 1 2 0 0 0 3
PDGFRA 1 2 0 0 0 3
PTEN 1 2 0 0 0 3
DCLRE1B 2 0 0 0 0 2
FANCD2, FANCD2OS 0 0 2 0 0 2
FANCI 2 0 0 0 0 2
ITPKB, LOC129932672 0 1 0 1 0 2
NOTCH1 2 0 0 0 0 2
AR, LOC109504725 1 0 0 0 0 1
BRCA2 1 0 0 0 0 1
DHX37 0 1 0 0 0 1
DMRT2 0 0 1 0 0 1
FANCA, LOC130059837 1 0 0 0 0 1
FANCA, SPIRE2 0 0 1 0 0 1
FANCB 0 0 1 0 0 1
FANCC 1 0 0 0 0 1
FANCE 0 0 1 0 0 1
FANCF 1 0 0 0 0 1
HSD17B3, SLC35D2-HSD17B3 0 0 1 0 0 1
LMBRD1 1 0 0 0 0 1
LOC126807054, PDGFRA 0 1 0 0 0 1
LOC130003020, NOTCH1 1 0 0 0 0 1
M1AP 0 0 0 0 1 1
NF1 1 0 0 0 0 1
RP1 0 1 0 0 0 1
RPS26 0 1 0 0 0 1
SLCO2A1 0 1 0 0 0 1
TYR 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign likely pathogenic, low penetrance total
Fanconi anemia 24 5 26 0 0 55
Myeloproliferative neoplasm, unclassifiable 7 11 4 1 0 23
Androgen resistance syndrome 7 2 0 0 0 9
Congenital amegakaryocytic thrombocytopenia 4 4 1 0 0 9
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 4 1 0 0 0 5
46,XY sex reversal 3 1 2 0 0 0 3
Fanconi anemia complementation group C 2 0 0 0 0 2
46,XY sex reversal 11 0 1 0 0 0 1
Diamond-Blackfan anemia 10 0 1 0 0 0 1
Gonadal agenesis 0 0 1 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 1 0 0 0 1
Methylmalonic aciduria and homocystinuria type cblF 1 0 0 0 0 1
Oculocutaneous albinism type 1B 1 0 0 0 0 1
Retinitis pigmentosa 1 0 1 0 0 0 1
Spermatogenic failure 48 0 0 0 0 1 1
Testosterone 17-beta-dehydrogenase deficiency 0 0 1 0 0 1

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