| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | A high-throughput functional complementation assay for classification of BRCA1 missense variants. | 23867111 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. | 23161852 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. | 20103620 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. | 16403807 | 2006 |
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|
C | 0.700 | CausalMutation | CLINVAR | Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model. | 12915465 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening. | 9482581 | 1998 |
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|
C | 0.700 | CausalMutation | CLINVAR | BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. | 9528852 | 1998 |
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|
C | 0.700 | CausalMutation | CLINVAR | Identification of a RING protein that can interact in vivo with the BRCA1 gene product. | 8944023 | 1996 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. | 7894491 | 1994 |
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|
G | 0.700 | CausalMutation | CLINVAR |