Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | GeneticVariation | CLINVAR | A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. | 21447777 | 2011 |
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G | 0.700 | GeneticVariation | CLINVAR | Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | 20516115 | 2010 |
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G | 0.700 | GeneticVariation | CLINVAR | The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. | 17851763 | 2008 |
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G | 0.700 | GeneticVariation | CLINVAR | Functional impact of missense variants in BRCA1 predicted by supervised learning. | 17305420 | 2007 |
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G | 0.700 | GeneticVariation | CLINVAR | Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain. | 16528612 | 2006 |
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G | 0.700 | GeneticVariation | CLINVAR | Classification of BRCA1 missense variants of unknown clinical significance. | 15689452 | 2005 |
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G | 0.700 | GeneticVariation | CLINVAR | Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. | 15133502 | 2004 |
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G | 0.700 | GeneticVariation | CLINVAR | Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. | 14534301 | 2003 |
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G | 0.700 | GeneticVariation | CLINVAR | BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. | 11389159 | 2001 |
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G | 0.700 | GeneticVariation | CLINVAR | Marker segregation information in breast/ovarian cancer genetic counseling: is it still useful? Groupe Génétique et Cancer de la Fédération Nationale des Centres de Lutte Contre le Cancer. | 9788557 | 1998 |