| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Lynch Syndrome in high risk Ashkenazi Jews in Israel. | 23990280 | 2014 |
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C | 0.700 | CausalMutation | CLINVAR | Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. | 22949387 | 2013 |
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C | 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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|
C | 0.700 | CausalMutation | CLINVAR | A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. | 22102614 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation. | 21419771 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. | 19101824 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mechanisms of pathogenicity in human MSH2 missense mutants. | 18951462 | 2008 |
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|
C | 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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|
C | 0.700 | CausalMutation | CLINVAR | Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. | 17101317 | 2006 |
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C | 0.700 | CausalMutation | CLINVAR | The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. | 12454801 | 2002 |