MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608083
rs267608083
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		CA 0.700 CausalMutation CLINVAR Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. 28195393 2017
dbSNP: rs587779204
rs587779204
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
dbSNP: rs587779227
rs587779227
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. 28531214 2017
dbSNP: rs587779227
rs587779227
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
dbSNP: rs587779227
rs587779227
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation 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: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
dbSNP: rs63750617
rs63750617
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107 2017
dbSNP: rs63750854
rs63750854
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		GGT 0.700 CausalMutation CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075 2017
dbSNP: rs760190301
rs760190301
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AAGTT 0.700 CausalMutation CLINVAR Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome. 28369758 2017
dbSNP: rs1057517764
rs1057517764
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		AT 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304 2016
dbSNP: rs1114167767
rs1114167767
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 26687385 2016
dbSNP: rs1324100572
rs1324100572
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237 2016
dbSNP: rs1553414519
rs1553414519
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304 2016
dbSNP: rs200492211
rs200492211
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304 2016
dbSNP: rs267608059
rs267608059
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
dbSNP: rs267608076
rs267608076
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237 2016
dbSNP: rs267608077
rs267608077
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs267608077
rs267608077
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
dbSNP: rs267608092
rs267608092
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
dbSNP: rs267608094
rs267608094
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
dbSNP: rs267608118
rs267608118
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		CA 0.700 CausalMutation CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394 2016
dbSNP: rs267608120
rs267608120
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. 26544533 2016
dbSNP: rs587779212
rs587779212
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
dbSNP: rs587779227
rs587779227
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587779259
rs587779259
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016