VCP Chromosome 9

Valosin containing protein

68 variants 68 Health Risk

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What This Gene Does

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]

Gene Info

Gene Group

"AAA ATPases|VCP-Ufd1-Npl4 complex subunits"

Locus Type

gene with protein product

Location

9p13.3

Ensembl

ENSG00000165280

Associated Conditions (18)

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Inborn genetic diseases

VCP-related disorder

Charcot-Marie-Tooth disease type 2Y

Intellectual disability

Neurodevelopmental disorder

Amyotrophic lateral sclerosis

Spastic paraplegia

FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6

WITH NEUROFIBRILLARY TANGLES

Lewy body dementia

Childhood Onset VCP-related Neurodevelopmental Disorder

Amyotrophic lateral sclerosis type 6

Alzheimer disease

Global developmental delay

INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1

Key Variants

RS121909329

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Health Risk

RS1260699314

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS141275388

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS147623367

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Health Risk

RS148329626

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS1554668168

Conflicting classifications of pathogenicity

Inborn genetic diseases, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Health Risk

RS1554668979

Conflicting classifications of pathogenicity

Health Risk

RS1563976866

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS1563980403

Conflicting classifications of pathogenicity

Health Risk

RS1563980979

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS1563981227

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Health Risk

RS1828723406

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Charcot-Marie-Tooth disease type 2Y

Health Risk

All Variants (68)

RSID	Category	Clinical Significance	Conditions
RS121909329	Health Risk	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1260699314	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS141275388	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS147623367	Health Risk	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS148329626	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS1554668168	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1554668979	Health Risk	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1563976866	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS1563980403	Health Risk	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1563980979	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS1563981227	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1828723406	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Charcot-Marie-Tooth disease type 2Y
RS1828756507	Health Risk	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS1828865320	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS183223259	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS188935092	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS201091341	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Intellectual disability
RS201610567	Health Risk	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, VCP-related disorder
RS367703031	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS370296303	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS370700002	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS375262833	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS376510669	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS377316335	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS537730311	Health Risk	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS541980846	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS549915384	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS577812326	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases
RS751290466	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS758596783	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS767379602	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS774809989	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Neurodevelopmental disorder
RS779959657	Health Risk	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS921092914	Health Risk	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS121909332	Health Risk	Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1490390928	Health Risk	Likely pathogenic	—
RS1554668805	Health Risk	Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1563980966	Health Risk	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1828721782	Health Risk	Likely pathogenic	FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES, FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6
RS1828783140	Health Risk	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Lewy body dementia
RS1828784075	Health Risk	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1828864269	Health Risk	Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS2490351461	Health Risk	Likely pathogenic	Childhood Onset VCP-related Neurodevelopmental Disorder, Childhood Onset VCP-related Neurodevelopmental Disorder
RS2490355959	Health Risk	Likely pathogenic	Childhood Onset VCP-related Neurodevelopmental Disorder, Childhood Onset VCP-related Neurodevelopmental Disorder
RS2490360176	Health Risk	Likely pathogenic	—
RS2490360233	Health Risk	Likely pathogenic	Childhood Onset VCP-related Neurodevelopmental Disorder, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS2490360271	Health Risk	Likely pathogenic	Childhood Onset VCP-related Neurodevelopmental Disorder, Childhood Onset VCP-related Neurodevelopmental Disorder
RS2490360302	Health Risk	Likely pathogenic	VCP-related disorder, VCP-related disorder
RS2490370338	Health Risk	Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS2490373952	Health Risk	Likely pathogenic	—

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