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:
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 likely pathogenic, low penetrance total
54 30 36 1 0 1 122

Gene and significance breakdown #

Total genes and gene combinations: 41
Download table as spreadsheet
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
RTEL1, RTEL1-TNFRSF6B 0 0 3 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
TERT 2 0 0 0 0 2
AR, LOC109504725 1 0 0 0 0 1
BLM 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
TINF2 0 1 0 0 0 1
TYR 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 22
Download table as spreadsheet
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
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 2 0 0 2
46,XY sex reversal 11 0 1 0 0 0 1
Bloom syndrome 1 0 0 0 0 1
Diamond-Blackfan anemia 10 0 1 0 0 0 1
Dyskeratosis congenita, autosomal dominant 2 1 0 0 0 0 1
Dyskeratosis congenita, autosomal dominant 3 0 1 0 0 0 1
Dyskeratosis congenita, autosomal recessive 5 0 0 1 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
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.