| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.700 | GeneticVariation | CLINVAR | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. | 24362816 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. | 22949387 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. | 23403630 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. | 22753075 | 2012 |
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T | 0.700 | GeneticVariation | CLINVAR | Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. | 21404117 | 2011 |
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T | 0.700 | GeneticVariation | CLINVAR | Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. | 21120944 | 2011 |
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T | 0.700 | GeneticVariation | CLINVAR | Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. | 20533529 | 2010 |
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T | 0.700 | GeneticVariation | CLINVAR | Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. | 17594722 | 2007 |
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T | 0.700 | GeneticVariation | CLINVAR | Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | 17510385 | 2007 |
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T | 0.700 | GeneticVariation | CLINVAR | Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. | 16083711 | 2005 |
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T | 0.700 | GeneticVariation | CLINVAR | Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? | 11726306 | 2001 |