Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | [Founder mutation in Lynch syndrome]. | 27295708 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. | 25197397 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. | 24802709 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. | 20533529 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. | 18566915 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Mismatch repair gene mutations in Chinese HNPCC patients. | 18931482 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. | 16338176 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. | 12799449 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer. | 10923051 | 2000 |
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T | 0.700 | CausalMutation | CLINVAR | Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. | 8797773 | 1996 |