MSH6, mutS homolog 6, 2956
N. diseases: 296; N. variants: 642
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | |||||||||
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AT | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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AT | 0.700 | CausalMutation | CLINVAR | Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. | 24323032 | 2014 | ||||||
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AT | 0.700 | CausalMutation | CLINVAR | Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. | 27064304 | 2016 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. | 24728189 | 2014 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal? | 26485756 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. | 25110875 | 2015 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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GAAGA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. | 18269114 | 2008 | ||||||
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C | 0.700 | GeneticVariation | 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 | Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. | 18269114 | 2008 | ||||||
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A | 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 | Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer. | 26436112 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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TAA | 0.700 | CausalMutation | CLINVAR |