Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 18337503 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 18337503 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. 18094436 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. 18094436 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. 15563510 2005
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. 15563510 2005
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555 2004
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555 2004
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663 2003
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663 2003
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. 12419761 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. 12419761 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625 2001
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625 2001
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702 1998
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702 1998