Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs63750398
rs63750398
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: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs63750398
rs63750398
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: rs63750398
rs63750398
MSH2
A 0.800 GeneticVariation CLINVAR

dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836

2000
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Functional analysis of human MutSalpha and MutSbeta complexes in yeast. 9889267

1999
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Functional analysis of HNPCC-related missense mutations in MSH2. 18822302

2008
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer. 15046096

2004
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327

1998
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968

2013
dbSNP: rs63750398
rs63750398
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: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 25003300

2014
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 11598466

2001
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455

2015
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197

2015
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002
dbSNP: rs63750398
rs63750398
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: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs63750398
rs63750398
MSH2
0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 25070057

2014
dbSNP: rs63750398
rs63750398
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