MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553335247
rs1553335247
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C4748135
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
0.800 GeneticVariation UNIPROT De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. 29796876 2018
dbSNP: rs1553335247
rs1553335247
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C4748135
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
G 0.800 CausalMutation CLINVAR
dbSNP: rs1553335247
rs1553335247
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C4748135
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
0.800 GeneticVariation UNIPROT High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. 27620904 2017
dbSNP: rs1553335247
rs1553335247
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C4748135
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
0.800 GeneticVariation UNIPROT De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. 30057029 2018
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 GeneticVariation CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731 2003
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC. 14974087 2004
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 GeneticVariation CLINVAR CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. 23621914 2013
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
0.720 GeneticVariation BEFREE In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC. 14974087 2004
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2. 26333163 2015
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. 30128536 2019
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency. 26274037 2015
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731 2003
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 GeneticVariation CLINVAR In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC. 14974087 2004
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 GeneticVariation CLINVAR Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype. 11470537 2001
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. 23621914 2013
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032 2014
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1. 18176851 2008
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer. 25307252 2015
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 CausalMutation CLINVAR Monogenic and polygenic determinants of sarcoma risk: an international genetic study. 27498913 2016
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
0.720 GeneticVariation BEFREE Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1. 18176851 2008
dbSNP: rs63750138
rs63750138
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.720 GeneticVariation CLINVAR Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1. 18176851 2008
dbSNP: rs2020912
rs2020912
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009402
Disease:
Colorectal Carcinoma
0.710 GeneticVariation UNIPROT Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. 11709755 2002
dbSNP: rs2020912
rs2020912
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009402
Disease:
Colorectal Carcinoma
0.710 GeneticVariation UNIPROT Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer. 10699937 2000