Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507327
rs397507327
0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018

dbSNP: rs397507954
rs397507954
0.700 CausalMutation CLINVAR Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. 28111427

2018

dbSNP: rs80358650
rs80358650
0.700 CausalMutation CLINVAR BRCA1/2 missense mutations and the value of in-silico analyses. 28807866

2018

dbSNP: rs80358928
rs80358928
0.700 CausalMutation CLINVAR Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. 28637432

2018

dbSNP: rs1060499566
rs1060499566
0.700 CausalMutation CLINVAR Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer. 28905878

2017

dbSNP: rs397507327
rs397507327
0.700 CausalMutation CLINVAR Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 28678401

2017

dbSNP: rs397507954
rs397507954
0.700 CausalMutation CLINVAR Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. 27157322

2017

dbSNP: rs397507954
rs397507954
0.700 CausalMutation CLINVAR Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing. 26757417

2017

dbSNP: rs397507954
rs397507954
0.700 CausalMutation CLINVAR Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. 28339459

2017

dbSNP: rs397515635
rs397515635
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

dbSNP: rs41293513
rs41293513
0.700 CausalMutation CLINVAR In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample. 27886673

2017

dbSNP: rs41293513
rs41293513
0.700 CausalMutation CLINVAR Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. 28339459

2017

dbSNP: rs587781471
rs587781471
0.700 CausalMutation CLINVAR Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. 27157322

2017

dbSNP: rs587781629
rs587781629
0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2017

dbSNP: rs587781803
rs587781803
0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2017

dbSNP: rs80358452
rs80358452
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

dbSNP: rs80358692
rs80358692
0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

dbSNP: rs80358893
rs80358893
0.700 CausalMutation CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823

2017

dbSNP: rs80358893
rs80358893
0.700 CausalMutation CLINVAR Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. 27425403

2017

dbSNP: rs80359011
rs80359011
0.700 CausalMutation CLINVAR Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. 27062684

2017

dbSNP: rs80359146
rs80359146
0.700 CausalMutation CLINVAR Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients. 28205045

2017

dbSNP: rs80359200
rs80359200
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

dbSNP: rs80359302
rs80359302
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

dbSNP: rs80359372
rs80359372
0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

dbSNP: rs80359429
rs80359429
0.700 CausalMutation CLINVAR Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. 27376475

2017