Gene: MLH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581

2006
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines. 16

1975
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer. 17505997

2007
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
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: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
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
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: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. 19669161

2010
dbSNP: rs587778914
rs587778914
MLH1
C 0.710 GeneticVariation CLINVAR

dbSNP: rs587778937
rs587778937
MLH1
C 0.710 GeneticVariation CLINVAR

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: rs63751194
rs63751194
MLH1
A 0.710 GeneticVariation CLINVAR

dbSNP: rs63751608
rs63751608
MLH1
C 0.710 GeneticVariation CLINVAR

dbSNP: rs1060500702
rs1060500702
MLH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1481129490
rs1481129490
MLH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553637475
rs1553637475
MLH1 ; EPM2AIP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553647995
rs1553647995
MLH1
AC 0.700 GeneticVariation CLINVAR

dbSNP: rs1553648047
rs1553648047
MLH1
GAGAGC 0.700 GeneticVariation CLINVAR

dbSNP: rs1553648225
rs1553648225
MLH1
T 0.700 GeneticVariation CLINVAR