Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753

2013
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009

2013
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer. 19479271

2009
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 18178629

2008
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239

2006
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 16472587

2006
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 15887124

2005
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. 11793469

2002
dbSNP: rs587779342
rs587779342
PMS2
0.800 GeneticVariation UNIPROT Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359

1999
dbSNP: rs587779342
rs587779342
PMS2
G 0.800 GeneticVariation CLINVAR