Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. 28781887

2016
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. 23536787

2013
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Nursing welcome mat to the hospital, an advanced practice nurse's responsibility. 20526115

2010
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. 18992264

2009
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets. 19452558

2009
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Thermal unfolding of human BRCA1 BRCT-domain variants. 17493881

2007
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420

2007
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. 16284991

2005
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay. 15004537

2004
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. 12142080

2002
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR The breast cancer information core: database design, structure, and scope. 10923033

2000
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR The BRCA1 C-terminal domain: structure and function. 10946236

2000
dbSNP: rs80357268
rs80357268
BRCA1
T 0.700 GeneticVariation CLINVAR Structure of an XRCC1 BRCT domain: a new protein-protein interaction module. 9799248

1998