Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. | 12228710 | 2002 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GTGGT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | Biallelic FANCD1/BRCA2 mutations predisposing to glioblastoma multiforme with multiple oncogenic amplifications. | 26740091 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. | 19043619 | 2008 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene. | 18724707 | 2008 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | 22505045 | 2012 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. | 27062684 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. | 12228710 | 2002 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. | 29394989 | 2018 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | 21990134 | 2012 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |