Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35502531
rs35502531
MLH1
0.030 GeneticVariation BEFREE The p.Lys618Ala variant should be considered a neutral variant for LS. 21247423

2011
dbSNP: rs35502531
rs35502531
MLH1
0.030 GeneticVariation BEFREE The pathogenicity of the K618A and Y646C mutations was questionable as their correlation with features typical of HNPCC was low and the outcome of the functional analysis was ambiguous. 16724012

2006
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR Evaluation of MLH1 variants of unclear significance. 29520894

2018
dbSNP: rs267607712
rs267607712
MLH1
G 0.700 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs587778975
rs587778975
MLH1
G 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs587778975
rs587778975
MLH1
G 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
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: rs63751275
rs63751275
MLH1
T 0.700 CausalMutation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017
dbSNP: rs63751615
rs63751615
MLH1
T 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs63751615
rs63751615
MLH1
T 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs1057517541
rs1057517541
MLH1
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs1553662753
rs1553662753
MLH1
G 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs267607720
rs267607720
MLH1
T 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs267607767
rs267607767
MLH1
G 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986

2016
dbSNP: rs267607795
rs267607795
MLH1
A 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs267607845
rs267607845
MLH1
A 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs587781554
rs587781554
MLH1
GA 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs63749795
rs63749795
MLH1
T 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs63751153
rs63751153
MLH1
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs63751275
rs63751275
MLH1
T 0.700 CausalMutation CLINVAR Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients. 27152634

2016
dbSNP: rs63751615
rs63751615
MLH1
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs63751615
rs63751615
MLH1
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs63751707
rs63751707
MLH1
T 0.700 CausalMutation CLINVAR Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. 26761715

2016
dbSNP: rs63751711
rs63751711
MLH1
A 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016