Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Functional analysis of human MutSalpha and MutSbeta complexes in yeast. 9889267

1999
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836

2000
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. 10573010

2000
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463

2005
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 23408351

2013
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308

2014
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Functional analysis of HNPCC-related missense mutations in MSH2. 18822302

2008
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers. 9621522

1998
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197

2015
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. 7874129

1994
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer. 15046096

2004