Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997

2015
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1. 24456667

2014
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2013
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome. 21387278

2011
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. 19669161

2010
dbSNP: rs63751657
rs63751657
MLH1
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: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550

2006
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Some aspects of molecular diagnostics in Lynch syndrome. 20223024

2006
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733

2005
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR [Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families]. 14514376

2003
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations. 11151427

2000
dbSNP: rs63751657
rs63751657
MLH1
A 0.700 CausalMutation CLINVAR RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. 8808596

1996