Gene Symbol:
VCP
HGNC:12666
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9p13.3
Filters:

Definitive classifications

inclusion body myopathy with Paget disease of bone and frontotemporal dementia
AD
12/23/2021
Evaluated
04/21/2024
Submitted

Strong classifications

frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Submitted as: OMIM:613954
AD
01/28/2021
Evaluated
03/31/2021
Submitted
frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Submitted as: OMIM:613954
AD
04/26/2023
Evaluated
11/30/2023
Submitted
Charcot-Marie-Tooth disease type 2Y
Submitted as: OMIM:616687
AD
03/17/2020
Evaluated
11/30/2023
Submitted
inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Submitted as: OMIM:167320
AD
04/05/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

amyotrophic lateral sclerosis
Submitted as: Orphanet:803
AD
09/14/2021
Evaluated
09/14/2021
Submitted
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Submitted as: Orphanet:52430
AD
09/14/2021
Evaluated
09/14/2021
Submitted
frontotemporal dementia with motor neuron disease
Submitted as: Orphanet:275872
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spastic paraplegia-Paget disease of bone syndrome
Submitted as: Orphanet:329475
AD
09/14/2021
Evaluated
09/14/2021
Submitted
adult-onset distal myopathy due to VCP mutation
Submitted as: Orphanet:329478
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 2Y
Submitted as: Orphanet:435387
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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