Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. 26834852

2016
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation. 26920070

2016
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074

2015
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. 23893897

2013
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. 21548014

2012
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431

2007
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations. 15645491

2005
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 15070707

2004
dbSNP: rs81002899
rs81002899
BRCA2
G 0.700 CausalMutation CLINVAR The BRCA2 genetic variant IVS7 + 2T-->G is a mutation. 11185744

2000