Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781948
rs587781948
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. 28050010 2017
dbSNP: rs587781948
rs587781948
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. 28174632 2017
dbSNP: rs796666047
rs796666047
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
T 0.700 GeneticVariation CLINVAR Dualistic Role of BARD1 in Cancer. 29292755 2017
dbSNP: rs587780021
rs587780021
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients. 26010302 2016
dbSNP: rs587781948
rs587781948
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394 2016
dbSNP: rs587781948
rs587781948
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients. 26010302 2016
dbSNP: rs587780021
rs587780021
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Hereditary ovarian cancer: not only BRCA 1 and 2 genes. 26075229 2015
dbSNP: rs587780021
rs587780021
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. 25330149 2015
dbSNP: rs587780021
rs587780021
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs587780021
rs587780021
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example. 25994375 2015
dbSNP: rs587780021
rs587780021
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs587780021
rs587780021
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Cancer predisposing BARD1 mutations in breast-ovarian cancer families. 21344236 2012
dbSNP: rs587780024
rs587780024
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
TCATACTTTTCTTCCTGTTCA 0.700 CausalMutation CLINVAR Cancer predisposing BARD1 mutations in breast-ovarian cancer families. 21344236 2012
dbSNP: rs587780024
rs587780024
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
TCATACTTTTCTTCCTGTTCA 0.700 CausalMutation CLINVAR Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. 20077502 2010
dbSNP: rs879254139
rs879254139
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs879254139
rs879254139
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs977584514
rs977584514
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
0.010 GeneticVariation BEFREE Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy). 24516540 2014