| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
CT | 0.700 | GeneticVariation | CLINVAR | Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants. | 24123850 | 2014 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. | 23613520 | 2013 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population. | 20033483 | 2010 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing. | 19941167 | 2010 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | 20104584 | 2010 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research. | 18704680 | 2009 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. | 19241424 | 2009 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. | 16030099 | 2005 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. | 12845657 | 2003 |
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|
CT | 0.700 | GeneticVariation | CLINVAR | Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. | 11857748 | 2002 |
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|
CTT | 0.700 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR |