Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750084
rs63750084
GA 0.700 CausalMutation CLINVAR Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes. 29967336

2018

dbSNP: rs1553370397
rs1553370397
T 0.700 CausalMutation CLINVAR A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. 28445943

2017

dbSNP: rs267607940
rs267607940
A 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017

dbSNP: rs587782659
rs587782659
C 0.700 GeneticVariation CLINVAR Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. 28577310

2017

dbSNP: rs63749854
rs63749854
T 0.700 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017

dbSNP: rs63750232
rs63750232
C 0.700 GeneticVariation CLINVAR Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. 29212164

2017

dbSNP: rs63750232
rs63750232
C 0.700 GeneticVariation CLINVAR Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. 28577310

2017

dbSNP: rs63750828
rs63750828
A 0.700 GeneticVariation CLINVAR Thyroid cancer in a patient with Lynch syndrome - case report and literature review. 28769567

2017

dbSNP: rs63750924
rs63750924
A 0.700 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017

dbSNP: rs63750934
rs63750934
T 0.700 CausalMutation CLINVAR MSH2 Loss in Primary Prostate Cancer. 28790115

2017

dbSNP: rs63751317
rs63751317
A 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017

dbSNP: rs63751640
rs63751640
T 0.700 CausalMutation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017

dbSNP: rs12476364
rs12476364
A 0.700 CausalMutation CLINVAR Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses. 26866578

2016

dbSNP: rs12476364
rs12476364
T 0.700 CausalMutation CLINVAR Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses. 26866578

2016

dbSNP: rs1553361289
rs1553361289
C 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

dbSNP: rs267607924
rs267607924
A 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016

dbSNP: rs587779067
rs587779067
T 0.700 GeneticVariation CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285

2016

dbSNP: rs587779067
rs587779067
G 0.700 CausalMutation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016

dbSNP: rs587779067
rs587779067
T 0.700 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016

dbSNP: rs587779067
rs587779067
G 0.700 CausalMutation CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285

2016

dbSNP: rs587779139
rs587779139
T 0.700 CausalMutation CLINVAR The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer. 26289772

2016

dbSNP: rs587779163
rs587779163
G 0.700 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016

dbSNP: rs587779165
rs587779165
T 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs587779185
rs587779185
A 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

dbSNP: rs587779979
rs587779979
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016