Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? 28503822

2018
dbSNP: rs63750084
rs63750084
MSH2
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: rs759680369
rs759680369
MLH1 ; EPM2AIP1
A 0.700 GeneticVariation CLINVAR Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation. 29790873

2018
dbSNP: rs1060500699
rs1060500699
MLH1
GT 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs1060500699
rs1060500699
MLH1
GT 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs1553370397
rs1553370397
MSH2
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: rs1554295967
rs1554295967
PMS2
A 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs267607871
rs267607871
MLH1
G 0.700 GeneticVariation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs267607871
rs267607871
MLH1
G 0.700 GeneticVariation CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017
dbSNP: rs267607940
rs267607940
MSH2
A 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs267608083
rs267608083
MSH6 ; FBXO11
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: rs267608154
rs267608154
PMS2
A 0.700 CausalMutation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017
dbSNP: rs376155665
rs376155665
EPCAM
G 0.700 CausalMutation CLINVAR Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. 28701297

2017
dbSNP: rs587779204
rs587779204
MSH6 ; FBXO11
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
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. 28531214

2017
dbSNP: rs587779227
rs587779227
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
dbSNP: rs587779227
rs587779227
MSH6 ; FBXO11
A 0.700 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria. 28365877

2017
dbSNP: rs587782659
rs587782659
MSH2
C 0.700 GeneticVariation CLINVAR Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. 28577310

2017
dbSNP: rs63749854
rs63749854
MSH2
T 0.700 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
dbSNP: rs63750232
rs63750232
MSH2
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
MSH2
C 0.700 GeneticVariation CLINVAR Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. 28577310

2017
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 CausalMutation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 GeneticVariation CLINVAR Thyroid cancer in a patient with Lynch syndrome - case report and literature review. 28769567

2017