Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853780
rs878853780
MLH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs876661159
rs876661159
MLH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs876660860
rs876660860
MLH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312767
rs869312767
MLH1 ; EPM2AIP1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs864622258
rs864622258
MLH1
0.010 GeneticVariation BEFREE We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). 16500024

2006
dbSNP: rs863225378
rs863225378
MLH1
ATCTGGACC 0.700 CausalMutation CLINVAR

dbSNP: rs863224480
rs863224480
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs786201226
rs786201226
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: rs780406337
rs780406337
MLH1
0.010 GeneticVariation BEFREE Both mutations: c.3984_3987dup and c.1906G>C account for 61% of HNPCC Ashkenazi families in this cohort. 19851887

2010
dbSNP: rs72481822
rs72481822
MLH1 ; EPM2AIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs63751892
rs63751892
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs63751891
rs63751891
MLH1 ; EPM2AIP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs63751715
rs63751715
MLH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs63751715
rs63751715
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs63751715
rs63751715
MLH1
A 0.700 GeneticVariation CLINVAR High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer. 15555211

2004
dbSNP: rs63751715
rs63751715
MLH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs63751715
rs63751715
MLH1
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs63751715
rs63751715
MLH1
A 0.700 GeneticVariation CLINVAR Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis. 19731080

2010
dbSNP: rs63751713
rs63751713
MLH1
0.020 GeneticVariation BEFREE Interestingly, two HNPCC missense alterations (Q542L and L582V) contained within the consensus interaction region displayed no effect on interaction with hPMS2, suggesting that they may affect other functions of hMLH1. 10037723

1999
dbSNP: rs63751713
rs63751713
MLH1
0.020 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: rs63751711
rs63751711
MLH1
A 0.700 CausalMutation CLINVAR RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. 15300854

2004
dbSNP: rs63751711
rs63751711
MLH1
A 0.700 CausalMutation CLINVAR Lynch syndrome in Tunisia: first description of clinical features and germline mutations. 21311894

2011
dbSNP: rs63751711
rs63751711
MLH1
T 0.700 CausalMutation CLINVAR Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 18772310

2008
dbSNP: rs63751711
rs63751711
MLH1
T 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63751711
rs63751711
MLH1
A 0.700 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008