Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750206
rs63750206
MLH1
C 0.720 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750217
rs63750217
MLH1
0.720 GeneticVariation BEFREE Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction. 15864295

2005
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction. 15864295

2005
dbSNP: rs63750206
rs63750206
MLH1
C 0.720 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555

2004
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555

2004
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. 14961575

2004
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663

2003
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. 12419761

2002
dbSNP: rs63750206
rs63750206
MLH1
C 0.720 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625

2001
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998
dbSNP: rs63750206
rs63750206
MLH1
C 0.720 CausalMutation CLINVAR Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. 8521398

1995
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. 8521398

1995
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines. 16

1975
dbSNP: rs587778966
rs587778966
MLH1
AC 0.720 CausalMutation CLINVAR

dbSNP: rs63750206
rs63750206
MLH1
T 0.720 CausalMutation CLINVAR

dbSNP: rs63750217
rs63750217
MLH1
A 0.720 CausalMutation CLINVAR

dbSNP: rs63751194
rs63751194
MLH1
0.710 GeneticVariation BEFREE We recommend a screening strategy for the local LS by starting with tumor IHC and the hotspot mutation testing at MLH1 c.793C>T followed by comprehensive mutation scanning in MLH1 and MSH2 prior to proceeding to other MMR genes. 24710284

2014
dbSNP: rs587778937
rs587778937
MLH1
G 0.710 GeneticVariation CLINVAR Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family. 23712482

2013
dbSNP: rs587778937
rs587778937
MLH1
0.710 GeneticVariation BEFREE Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family. 23712482

2013
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
dbSNP: rs587778914
rs587778914
MLH1
0.710 GeneticVariation BEFREE Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families. 22395473

2012