Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082

2014

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability. 17117178

2006

dbSNP: rs267608078
rs267608078
AC 0.700 GeneticVariation CLINVAR Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? 15837969

2005

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843

2010

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569

2010

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007

dbSNP: rs267608078
rs267608078
AC 0.700 GeneticVariation CLINVAR High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 25117503

2014

dbSNP: rs267608078
rs267608078
AC 0.700 GeneticVariation CLINVAR Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 16807412

2006

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability. 17117178

2006

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome. 19526325

2009

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. 9307272

1997

dbSNP: rs267608078
rs267608078
AC 0.700 GeneticVariation CLINVAR Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. 25110875

2015

dbSNP: rs267608078
rs267608078
AC 0.700 GeneticVariation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569

2010

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? 15837969

2005

dbSNP: rs267608078
rs267608078
AC 0.700 GeneticVariation CLINVAR Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer. 9929971

1999

dbSNP: rs267608078
rs267608078
AC 0.700 GeneticVariation CLINVAR Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. 9307272

1997

dbSNP: rs267608078
rs267608078
A 0.700 CausalMutation CLINVAR Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. 20591884

2010

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs267608078
rs267608078
AC 0.700 CausalMutation CLINVAR Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. 15483016

2004