Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759680369
rs759680369
MLH1 ; EPM2AIP1
A 0.700 GeneticVariation CLINVAR Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation. 29790873

2018
dbSNP: rs1060500699
rs1060500699
MLH1
GT 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs1060500699
rs1060500699
MLH1
GT 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs267607871
rs267607871
MLH1
G 0.700 GeneticVariation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs267607871
rs267607871
MLH1
G 0.700 GeneticVariation CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017
dbSNP: rs863225378
rs863225378
MLH1
ATCTGGACC 0.700 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

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

2016
dbSNP: rs267607717
rs267607717
MLH1
A 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs267607720
rs267607720
MLH1
G 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: rs267607723
rs267607723
MLH1
C 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs267607759
rs267607759
MLH1
G 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs267607780
rs267607780
MLH1
G 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: rs267607867
rs267607867
MLH1
A 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs267607901
rs267607901
MLH1
C 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs267607906
rs267607906
MLH1
T 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs41542214
rs41542214
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: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 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: rs63750948
rs63750948
MLH1
C 0.700 GeneticVariation CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs63751153
rs63751153
MLH1
T 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs730881734
rs730881734
MLH1
C 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: rs878853787
rs878853787
MLH1
TA 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs1060500699
rs1060500699
MLH1
GT 0.700 CausalMutation CLINVAR Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience. 24903654

2015
dbSNP: rs1434898623
rs1434898623
MLH1
A 0.700 CausalMutation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088

2015