| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. | 27398995 | 2016 |
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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 | MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. | 18781619 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Structure of the human MutSalpha DNA lesion recognition complex. | 17531815 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. | 15845562 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. | 15365995 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. | 10196371 | 1999 |
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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 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. | 8581513 | 1995 |