| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. | 23108138 | 2013 |
||||
|
0.800 | GeneticVariation | UNIPROT | A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. | 21719596 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. | 16825431 | 2007 |
||||
|
0.800 | GeneticVariation | UNIPROT | Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. | 14670928 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. | 14559878 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. | 14559878 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Biallelic inactivation of BRCA2 in Fanconi anemia. | 12065746 | 2002 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Essential Role of BRCA2 in Ovarian Development and Function. | 30207912 | 2018 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Essential Role of BRCA2 in Ovarian Development and Function. | 30207912 | 2018 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
AG | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |