| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability. | 26096739 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive functional assessment of MLH1 variants of unknown significance. | 22736432 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. | 21642682 | 2011 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). | 18383312 | 2008 |
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|
A | 0.700 | GeneticVariation | CLINVAR | The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. | 18373977 | 2008 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | 17510385 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. | 16395668 | 2006 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers. | 14526391 | 2003 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. | 11781295 | 2002 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. | 12183410 | 2002 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. | 11555625 | 2001 |