Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2017

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs63750206
rs63750206
0.720 CausalMutation 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

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs63750206
rs63750206
0.720 GeneticVariation BEFREE Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183

2009

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome. 19142183

2009

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 18337503

2008

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306

2007

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer. 17440950

2007

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene. 16982745

2006

dbSNP: rs63750206
rs63750206
0.720 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families. 16810763

2006

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940

2006

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. 15563510

2005

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555

2005

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. 14961575

2004

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. 12419761

2002

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625

2001

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998

dbSNP: rs63750206
rs63750206
0.720 CausalMutation CLINVAR Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. 8521398

1996

dbSNP: rs63750211
rs63750211
0.710 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017