| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | 28781887 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. | 27272900 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | A high-throughput functional complementation assay for classification of BRCA1 missense variants. | 23867111 | 2013 |
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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 | Toward classification of BRCA1 missense variants using a biophysical approach. | 20378548 | 2010 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. | 18824701 | 2008 |
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|
G | 0.700 | GeneticVariation | CLINVAR | A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | 17924331 | 2007 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. | 17308087 | 2007 |
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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 | Missense mutations in the BRCT domain of BRCA-1 from high-risk women frequently perturb strongly hydrophobic amino acids conserved among mammals. | 15184261 | 2004 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. | 15172985 | 2004 |