Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517541
rs1057517541
MLH1
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs1060500702
rs1060500702
MLH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060504000
rs1060504000
MLH1
0.010 GeneticVariation BEFREE We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families. 25762362

2015
dbSNP: rs111052004
rs111052004
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs11541859
rs11541859
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
AC 0.700 CausalMutation CLINVAR

dbSNP: rs1260021106
rs1260021106
MLH1
0.010 GeneticVariation BEFREE We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families. 25762362

2015
dbSNP: rs1392665848
rs1392665848
MLH1
0.010 GeneticVariation BEFREE We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant. 22773173

2012
dbSNP: rs1418586322
rs1418586322
MLH1
0.020 GeneticVariation BEFREE Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. 15516845

2004
dbSNP: rs1418586322
rs1418586322
MLH1
0.020 GeneticVariation BEFREE Although rare in the general population, A636P mutations are found at increased frequency in Ashkenazim with a personal or family history of colorectal or other HNPCC-associated cancers. 17414604

2007
dbSNP: rs1481129490
rs1481129490
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1481129490
rs1481129490
MLH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553637475
rs1553637475
MLH1 ; EPM2AIP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553640340
rs1553640340
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553641269
rs1553641269
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553642492
rs1553642492
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553642657
rs1553642657
MLH1
T 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: rs1553642657
rs1553642657
MLH1
T 0.700 CausalMutation CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694

2008
dbSNP: rs1553642657
rs1553642657
MLH1
T 0.700 CausalMutation CLINVAR Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements. 16941473

2006
dbSNP: rs1553642657
rs1553642657
MLH1
T 0.700 CausalMutation CLINVAR Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. 20937110

2010
dbSNP: rs1553642698
rs1553642698
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553644155
rs1553644155
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553645256
rs1553645256
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553646669
rs1553646669
MLH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553647795
rs1553647795
MLH1
G 0.700 CausalMutation CLINVAR