Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs63750781
rs63750781
MLH1
G 0.700 CausalMutation CLINVAR Evidence for breast cancer as an integral part of Lynch syndrome. 22034109

2012
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry. 22322191

2012
dbSNP: rs63750781
rs63750781
MLH1
G 0.700 CausalMutation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. 19698169

2009
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750781
rs63750781
MLH1
G 0.700 CausalMutation CLINVAR Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. 17135187

2006
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. 17135187

2006
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs63750781
rs63750781
MLH1
G 0.700 CausalMutation CLINVAR Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis. 20233461

2004
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis. 20233461

2004
dbSNP: rs63750781
rs63750781
MLH1
T 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
dbSNP: rs63750781
rs63750781
MLH1
G 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
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. 12112654

2002
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295

2002
dbSNP: rs63750781
rs63750781
MLH1
G 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625

2001
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. 11429708

2001
dbSNP: rs63750781
rs63750781
MLH1
G 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998
dbSNP: rs63750781
rs63750781
MLH1
T 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998
dbSNP: rs63750781
rs63750781
MLH1
G 0.700 CausalMutation CLINVAR Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. 8592341

1995