BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population. 26221963 2015
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. 20513136 2010
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. 19200354 2009
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. 19563646 2009
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181 2008