Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR Three novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome living on Jeju island, Korea. 21034533

2010

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR Three novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome living on Jeju island, Korea. 21034533

2010

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550

2006

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR Some aspects of molecular diagnostics in Lynch syndrome. 20223024

2006

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia. 16830052

2006

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550

2006

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. 15300854

2004

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. 15300854

2004

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. 12547705

2003

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. 12655568

2003

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. 12547705

2003

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141

2003

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 12362047

2002

dbSNP: rs63751711
rs63751711
A 0.700 CausalMutation CLINVAR Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. 8571956

1996

dbSNP: rs63751711
rs63751711
T 0.700 GeneticVariation CLINVAR CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 8566964

1996