PMS2, PMS1 homolog 2, mismatch repair system component, 5395
N. diseases: 244; N. variants: 282
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. | 27064304 | 2016 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | 25980754 | 2015 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. | 23709753 | 2013 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. | 23012243 | 2013 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Recurrent and founder mutations in the PMS2 gene. | 22577899 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. | 23709753 | 2013 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. | 20487569 | 2010 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. | 18602922 | 2008 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. | 18602922 | 2008 |