Gene: MSH2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes. 28687971

2018
dbSNP: rs63750084
rs63750084
MSH2
G 0.700 CausalMutation CLINVAR Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes. 29025352

2018
dbSNP: rs1114167806
rs1114167806
MSH2
T 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs1114167810
rs1114167810
MSH2
AT 0.700 CausalMutation CLINVAR Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome. 27713421

2017
dbSNP: rs1114167810
rs1114167810
MSH2
AT 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
dbSNP: rs1114167816
rs1114167816
MSH2
T 0.700 CausalMutation CLINVAR Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing. 27863258

2017
dbSNP: rs1114167857
rs1114167857
MSH2
C 0.700 GeneticVariation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017
dbSNP: rs193922375
rs193922375
MSH2
TG 0.700 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

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: rs267607994
rs267607994
MSH2
T 0.700 GeneticVariation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017
dbSNP: rs267607995
rs267607995
MSH2
A 0.700 CausalMutation CLINVAR Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. 28422960

2017
dbSNP: rs267608011
rs267608011
MSH2
G 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs28929483
rs28929483
MSH2
G 0.700 GeneticVariation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs28929483
rs28929483
MSH2
T 0.700 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs63749831
rs63749831
MSH2
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: rs63749848
rs63749848
MSH2
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: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. 28176205

2017
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
dbSNP: rs63749983
rs63749983
MSH2
C 0.700 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs63750160
rs63750160
MSH2
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: rs63750232
rs63750232
MSH2
C 0.700 CausalMutation CLINVAR Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. 28577310

2017
dbSNP: rs63750393
rs63750393
MSH2
C 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
dbSNP: rs63750393
rs63750393
MSH2
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: rs63750396
rs63750396
MSH2
A 0.700 CausalMutation CLINVAR Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. 28127413

2017