×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
20020535 2010
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
24802709 2014
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
A human compound heterozygote for two MLH1 missense mutations.
9326924 1997
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
18561205 2008
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
18561205 2008
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
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
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
20864636 2010
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
Biomarker
CLINGEN
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
16341550 2006
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
16341550 2006
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
18383312 2008
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.
12183410 2002
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.
14512394 2003
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
An American founder mutation in MLH1.
21671475 2012
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
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
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.
22776989 2012
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
22949387 2013
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
21642682 2011
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
28135145 2017
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.
25892863 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
Biomarker
CLINGEN
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.
9490293 1998
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
8993976 1997
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
18033691 2008
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Classification of mismatch repair gene missense variants with PON-MMR.
22290698 2012