Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749795
rs63749795
MLH1
0.710 GeneticVariation BEFREE Having a high probability for MSI, she was found to be heterozygous for a germline point mutation in MSH2 gene, where a pathologic variant, c.1165C > T (p.Arg389*), determined by sequencing confirmed Muir-Torre syndrome (MTS). 29933315

2019
dbSNP: rs63749795
rs63749795
MLH1
T 0.710 CausalMutation CLINVAR

dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075

2012
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529

2010
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722

2007
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306

2001
dbSNP: rs1553350126
rs1553350126
MSH2
AAAAGATCTTCTTCTGGTTCGTC 0.700 CausalMutation CLINVAR

dbSNP: rs1553647894
rs1553647894
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607720
rs267607720
MLH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs267607735
rs267607735
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607768
rs267607768
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607871
rs267607871
MLH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs267607940
rs267607940
MSH2
A 0.700 CausalMutation CLINVAR

dbSNP: rs587779190
rs587779190
MSH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs63749849
rs63749849
MSH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs63750047
rs63750047
MSH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR