Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397

2014

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709

2014

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529

2010

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482

2008

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. 16338176

2006

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. 12799449

2003

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer. 10923051

2000

dbSNP: rs267607906
rs267607906
T 0.700 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773

1996