Gene: MSH2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients. 20850175

2010
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR Among Ashkenazi Jewish HNPCC cases, recurring mutations in the MSH2 (1906G>C; A636P) and MSH6 (c.3984_3987dupGTCA; c.3959_3962delCAAG) genes can be detected. 22219001

2012
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317

2006
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. 15845562

2005
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined. 15929773

2005
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722

2007
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews. 18674656

2008
dbSNP: rs63750875
rs63750875
MSH2
C 0.760 CausalMutation CLINVAR The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%. 21419771

2011
dbSNP: rs63749993
rs63749993
MSH2
G 0.730 CausalMutation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
dbSNP: rs63749993
rs63749993
MSH2
G 0.730 CausalMutation CLINVAR We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). 16500024

2006
dbSNP: rs63749993
rs63749993
MSH2
G 0.730 CausalMutation CLINVAR Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer. 10080150

1999
dbSNP: rs63749993
rs63749993
MSH2
G 0.730 CausalMutation CLINVAR Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. 21225464

2011
dbSNP: rs63749993
rs63749993
MSH2
G 0.730 CausalMutation CLINVAR The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. 22739024

2012
dbSNP: rs63749993
rs63749993
MSH2
G 0.730 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011
dbSNP: rs587779139
rs587779139
MSH2
T 0.710 CausalMutation CLINVAR

dbSNP: rs63750042
rs63750042
MSH2
T 0.710 CausalMutation CLINVAR

dbSNP: rs63750493
rs63750493
MSH2
G 0.710 CausalMutation CLINVAR

dbSNP: rs63751147
rs63751147
MSH2
C 0.710 GeneticVariation CLINVAR

dbSNP: rs63751192
rs63751192
MSH2
TACCG 0.710 CausalMutation CLINVAR

dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Mutator phenotypes of common polymorphisms and missense mutations in MSH2. 10469597

1999
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940

2006
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. 8521394

1995
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002