| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | 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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|
A | 0.700 | CausalMutation | CLINVAR | A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. | 22949379 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. | 21404117 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. | 19669161 | 2010 |
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|
A | 0.700 | CausalMutation | 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 | CausalMutation | CLINVAR | The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. | 17210669 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. | 17594722 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | 17510385 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. | 12810663 | 2003 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. | 9032648 | 1997 |