Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201042
rs786201042
T 0.700 CausalMutation CLINVAR Recent progress in Lynch syndrome and other familial colorectal cancer syndromes. 29485237

2018

dbSNP: rs1316409501
rs1316409501
T 0.700 GeneticVariation CLINVAR Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. 28531214

2017

dbSNP: rs146816935
rs146816935
T 0.700 CausalMutation CLINVAR Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6. 28528517

2017

dbSNP: rs267608042
rs267608042
C 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017

dbSNP: rs267608042
rs267608042
C 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. 28481244

2017

dbSNP: rs267608083
rs267608083
CA 0.700 CausalMutation CLINVAR Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. 28195393

2017

dbSNP: rs267608083
rs267608083
CA 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017

dbSNP: rs398123231
rs398123231
A 0.700 CausalMutation CLINVAR Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing. 28502729

2017

dbSNP: rs587779204
rs587779204
C 0.700 GeneticVariation CLINVAR Clinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer. 27965287

2017

dbSNP: rs587779204
rs587779204
C 0.700 GeneticVariation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017

dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017

dbSNP: rs587779227
rs587779227
A 0.700 GeneticVariation CLINVAR Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. 28531214

2017

dbSNP: rs587779255
rs587779255
T 0.700 CausalMutation CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823

2017

dbSNP: rs587781462
rs587781462
T 0.700 GeneticVariation CLINVAR Longitudinal analysis of treatment-induced genomic alterations in gliomas. 28153049

2017

dbSNP: rs587781544
rs587781544
T 0.700 CausalMutation CLINVAR Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6. 28528517

2017

dbSNP: rs587782111
rs587782111
TA 0.700 CausalMutation CLINVAR Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing. 28502729

2017

dbSNP: rs63749874
rs63749874
A 0.700 CausalMutation CLINVAR Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series. 28283864

2017

dbSNP: rs63750019
rs63750019
T 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017

dbSNP: rs63750617
rs63750617
T 0.700 GeneticVariation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017

dbSNP: rs63750617
rs63750617
T 0.700 GeneticVariation CLINVAR Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. 28481244

2017

dbSNP: rs63750909
rs63750909
T 0.700 CausalMutation CLINVAR A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). 28460341

2017

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. 28176205

2017

dbSNP: rs63751017
rs63751017
T 0.700 CausalMutation CLINVAR Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. 29212164

2017

dbSNP: rs63751327
rs63751327
TA 0.700 CausalMutation CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842

2017