Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607825
rs267607825
MLH1
A 0.700 CausalMutation CLINVAR Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. 14574010

2001
dbSNP: rs267607832
rs267607832
MLH1
A 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607832
rs267607832
MLH1
A 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs267607832
rs267607832
MLH1
A 0.700 CausalMutation CLINVAR Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics. 15178966

1998
dbSNP: rs267607832
rs267607832
MLH1
A 0.700 CausalMutation CLINVAR Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation. 21286823

2011
dbSNP: rs267607845
rs267607845
MLH1
A 0.700 CausalMutation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009
dbSNP: rs267607845
rs267607845
MLH1
A 0.700 CausalMutation CLINVAR Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany. 17095871

2006
dbSNP: rs267607845
rs267607845
MLH1
A 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs267607845
rs267607845
MLH1
A 0.700 CausalMutation CLINVAR Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 14635101

2003
dbSNP: rs267607845
rs267607845
MLH1
A 0.700 CausalMutation CLINVAR Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. 21868491

2012
dbSNP: rs267607845
rs267607845
MLH1
A 0.700 CausalMutation CLINVAR Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. 15855432

2005
dbSNP: rs267607845
rs267607845
MLH1
A 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607867
rs267607867
MLH1
A 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs267607867
rs267607867
MLH1
A 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs267607867
rs267607867
MLH1
A 0.700 CausalMutation CLINVAR Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. 10422993

1999
dbSNP: rs267607867
rs267607867
MLH1
A 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607867
rs267607867
MLH1
A 0.700 CausalMutation CLINVAR Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. 12067992

2002
dbSNP: rs267607879
rs267607879
MLH1
A 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs267607879
rs267607879
MLH1
A 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs281864936
rs281864936
MLH1
A 0.700 CausalMutation CLINVAR Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome. 17653898

2007
dbSNP: rs550890395
rs550890395
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587778933
rs587778933
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype. 24084575

2014
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. 21840485

2011
dbSNP: rs587779024
rs587779024
MLH1
A 0.700 GeneticVariation CLINVAR