Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359013
rs80359013
BRCA2
C 0.700 GeneticVariation CLINVAR Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431

2007
dbSNP: rs80359013
rs80359013
BRCA2
C 0.700 GeneticVariation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007
dbSNP: rs80359013
rs80359013
BRCA2
C 0.700 GeneticVariation 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: rs80359013
rs80359013
BRCA2
C 0.700 GeneticVariation CLINVAR Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia. 16115142

2005
dbSNP: rs80359013
rs80359013
BRCA2
C 0.700 GeneticVariation CLINVAR Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 15070707

2004
dbSNP: rs80359013
rs80359013
BRCA2
C 0.700 GeneticVariation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002