| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. | 28422960 | 2017 |
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|
A | 0.800 | CausalMutation | CLINVAR | Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. | 26951660 | 2016 |
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|
A | 0.800 | CausalMutation | CLINVAR | Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. | 25559809 | 2015 |
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|
A | 0.800 | CausalMutation | CLINVAR | Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2. | 23248292 | 2013 |
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|
A | 0.800 | 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 | 0.800 | CausalMutation | CLINVAR | Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. | 17720936 | 2007 |
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|
A | 0.800 | CausalMutation | CLINVAR | Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. | 17101317 | 2006 |
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|
A | 0.800 | CausalMutation | CLINVAR | Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified. | 16175654 | 2005 |
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|
A | 0.800 | 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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|
A | 0.800 | CausalMutation | CLINVAR | Cancer risk in 348 French MSH2 or MLH1 gene carriers. | 12624141 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT |