Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

VAMP1
Vesicle associated membrane protein (synaptobrevin 1)



12p13
* ataxia, spastic, 1, autosomal dominant - SPAX1 (11.31, 15.76)
* Presynaptic congenital myasthenic syndrome 25 - CMS25 (11.31, 15.76)

VAPB
Vesicle-associated membrane protein-associated protein B and C



7p15
* Spinal muscular atrophy, late-onset, Finkel type - SMAFK (12.35, 12.51)
* Amyotrophic lateral sclerosis - ALS8 (12.35, 12.51)

VCL
Vinculin



10q22.1-q23
* Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.58)
* Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.58)

VCP
Valosin-containing protein



9p13-p12
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 (1.57, 4.19, 5.29, 12.57, 14.65)
* Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.57, 4.19, 5.29, 12.57, 14.65)
* Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.57, 4.19, 5.29, 12.57, 14.65)
* Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.57, 4.19, 5.29, 12.57, 14.65)
* Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y (1.57, 4.19, 5.29, 12.57, 14.65)

VMA21
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



Xq28
* Myopathy, X-linked, with excessive autophagy - XMEA (5.16)

VPS13D
Vacuolar protein sorting 37, Yeast, homolg of, A



1p36.22-p36.21
* Spinocerebellar ataxia, autosomal recessive 4 - SCAR4 (13.57)

VPS37A
Vacuolar protein sorting-associated protein 37A



8p22
* Spastic paraplegia 53, autosomal recessive - SPG53 (15.52)

VRK1
Vaccinia related kinase 1



14q32
* Pontocerebellar hypoplasia type 1 - PCH1 (12.10, 12.89, 14.122)
* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.10, 12.89, 14.122)
* Spinal muscular atrophy, distal, autosomal recessive - DSMA (12.10, 12.89, 14.122)

VWA3B
Von Willebrand factor A domain Containing Protein 3B



2q11.2
* Spinocerebellar ataxia, autosomal recessive 22 - SCAR22 (13.75)
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