Criteria used for classification are available from here.
Justification for classification of individual variants is accessible via the links in the InSiGHT_Class column, and also at the InSiGHT website.
We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template, and such contributions are recognised by microattribution.

LOVD MLH1 homepage

General information
Gene name MutL homolog 1 (E.coli)
Gene symbol MLH1
Chromosome Location 3p22.3
Database location chromium.liacs.nl
Curator John-Paul Plazzer, Bryony Thompson, Hans Vasen, Michael Woods, Paivi Peltomäki and Rolf Sijmons
PubMed references View all (unique) PubMed references in the MLH1 database
Date of creation January 01, 2008
Last update July 24, 2014
Version MLH1 140724
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007109.1
Transcript refseq ID NM_000249.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1193
Total number of individuals with variant(s) 6633
Total number of variants reported 6972
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NOTE We sincerely thank the George Hicks Foundation for their generous support of the curation of the InSiGHT database from 2010 to 2012. We are grateful for the ongoing funding for curation which is provided by the Royal Melbourne Hospital foundation.
NOTE: in this database entries from the MMR, InSiGHT and MMRUV databases (for links see the gene homepage) have been merged. In addition new, unpublished variants have been entered by submitters directly.
We want to gratefully acknowledge the work performed by Amanda Dohey (Woods laboratory) to get this work done. In addition we want to thank Krista Mahoney for her efforts as a curator until 2011.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the MLH1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MLH1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MLH1 database
Variants with no known pathogenicity Listing of all MLH1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 7127
Entrez Gene 4292
OMIM - Gene 120436
OMIM - Disease Hereditary NonPolyposis Colorectal Cancer-2 (HNPCC2)
HGMD MLH1
GeneCards MLH1
GeneTests MLH1
External link #1 Orphanet
External link #2 Woods MMR databases
External link #3 InSiGHT
External link #4 MMRUV Groningen

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2014. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.