Gene: MLH1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Evaluation of MLH1 variants of unclear significance. 29520894 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. 26761715 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients. 27152634 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome. 25782445 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability. 26096739 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India. 25420488 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. 25871441 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014