Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Evaluation of MLH1 variants of unclear significance. 29520894

2018
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387

2017
dbSNP: rs63751247
rs63751247
MLH1
T 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
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977

2008
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63751247
rs63751247
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: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529

2001
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359

1999
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327

1998
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976

1997