rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
25645574
2015
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Lynch Syndrome: A Primer for Urologists and Panel Recommendations.
25711197
2015
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
25452455
2015
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
24493721
2014
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
24310308
2014
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.
25003300
2014
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.
25070057
2014
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
23408351
2013
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.
23535968
2013
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.
22167527
2012
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
22753075
2012
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
A
0.800
CausalMutation
CLINVAR
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
21404117
2011
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
20065170
2010
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
20020535
2010
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
A
0.800
CausalMutation
CLINVAR
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
18337503
2008
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
A
0.800
CausalMutation
CLINVAR
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
17510385
2007
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
A
0.800
CausalMutation
CLINVAR
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
16083711
2005
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
A
0.800
CausalMutation
CLINVAR
Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
15563510
2005
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
15365995
2004
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
11793442
2002
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
11839723
2002
rs63750206
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.800
GeneticVariation
UNIPROT
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
11781295
2002