rs63750217, MLH1
N. diseases: 6
Source: CLINVAR ×
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. | 25477341 | 2015 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Risk of cancer in cases of suspected lynch syndrome without germline mutation. | 23354017 | 2013 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. | 23403630 | 2013 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Comprehensive functional assessment of MLH1 variants of unknown significance. | 22736432 | 2012 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. | 21404117 | 2011 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. | 21642682 | 2011 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. | 18033691 | 2008 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | 17510385 | 2007 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair. | 15864295 | 2005 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. | 16083711 | 2005 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. | 12810663 | 2003 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. | 12362047 | 2002 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. | 10037723 | 1999 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. | 9697702 | 1998 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. | 8880570 | 1996 |