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 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: rs63749818
rs63749818
MLH1
0.710 GeneticVariation BEFREE The novel nonsense germline point mutation c.392C>G in the codon 131 of MLH1(S131X) was identified as the underlying genetic cause of LS in three families. 23100212

2012
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. 18205192

2008
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977

2008
dbSNP: rs63750453
rs63750453
MLH1
A 0.700 GeneticVariation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977

2008
dbSNP: rs63750792
rs63750792
MLH1 ; EPM2AIP1
T 0.700 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977

2008
dbSNP: rs63751022
rs63751022
MLH1
A 0.700 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977

2008
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977

2008
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
dbSNP: rs63749909
rs63749909
MLH1
C 0.700 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
dbSNP: rs63751247
rs63751247
MLH1
T 0.700 CausalMutation CLINVAR The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529

2001
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 11524701

2001
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: rs63751194
rs63751194
MLH1
A 0.710 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
dbSNP: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
dbSNP: rs63750641
rs63750641
MLH1
G 0.700 GeneticVariation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
dbSNP: rs63751221
rs63751221
MLH1
T 0.700 CausalMutation CLINVAR The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. 11606497

2001
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. 18547406

2008
dbSNP: rs587778966
rs587778966
MLH1
0.720 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006
dbSNP: rs63750206
rs63750206
MLH1
0.720 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006
dbSNP: rs1799977
rs1799977
MLH1
0.020 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006
dbSNP: rs35502531
rs35502531
MLH1
0.030 GeneticVariation BEFREE The p.Lys618Ala variant should be considered a neutral variant for LS. 21247423

2011
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR The HNPCC-related hMLH1 mutations T117M, V185G, R217C, G244D, R265C, V326A, and K618T, the polymorphisms I219V and R265H, and a hMLH1 splicing variant lacking exon 9 and 10 (hMLH1 Delta 9/10) were cloned. 11781295

2002