| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 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 | LOVD v.2.0: the next generation in gene variant databases. | 21520333 | 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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|
T | 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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|
T | 0.700 | CausalMutation | CLINVAR | Functional analysis of HNPCC-related missense mutations in MSH2. | 18822302 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Functional analysis of HNPCC-related missense mutations in MSH2. | 18822302 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. | 15849733 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. | 15849733 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. | 9774676 | 1998 |
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|
A | 0.700 | CausalMutation | CLINVAR | Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. | 9774676 | 1998 |