| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 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 | Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non-polyposis colorectal cancer: a cost-effective screening strategy proposal. | 18307539 | 2008 |
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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 | Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. | 16724012 | 2006 |
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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 | HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. | 15139004 | 2004 |
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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 |