BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881422
rs730881422
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021 2017
dbSNP: rs730881422
rs730881422
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs730881422
rs730881422
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Crystal structure of the BARD1 BRCT domains. 17550235 2007
dbSNP: rs730881422
rs730881422
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. 15040442 2004