Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 21056691

2011

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762

2011

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. 19851887

2010

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. 16418736

2006

dbSNP: rs267608094
rs267608094
T 0.700 CausalMutation CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045

2005