Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. 28481244

2017
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. 23621914

2013
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Human MSH6 deficiency is associated with impaired antibody maturation. 22250089

2012
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 21056691

2011
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. 21836479

2011
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. 19072991

2009
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. 18409202

2008
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation 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: rs63750617
rs63750617
MSH6 ; FBXO11
T 0.700 GeneticVariation CLINVAR Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait. 16525781

2006