VCP (valosin containing protein) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: VCP (valosin containing protein) Homo sapiens
Analyze
Symbol: VCP
Name: valosin containing protein
RGD ID: 731621
HGNC Page HGNC:12666
Description: Enables several functions, including ATP hydrolysis activity; enzyme binding activity; and modification-dependent protein binding activity. Involved in several processes, including DNA repair; positive regulation of nitrogen compound metabolic process; and proteasomal protein catabolic process. Located in several cellular components, including VCP-NPL4-UFD1 AAA ATPase complex; VCP-NSFL1C complex; and cytoplasmic stress granule. Part of Derlin-1 retrotranslocation complex and proteasome complex. Is active in endoplasmic reticulum membrane. Implicated in several diseases, including Charcot-Marie-Tooth disease type 2Y; Paget's disease of bone; frontotemporal dementia and/or amyotrophic lateral sclerosis 6; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1; and inclusion body myositis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 15S Mg(2+)-ATPase p97 subunit; ALS14; CDC48; CMT2Y; epididymis luminal protein 220; epididymis secretory protein Li 70; FTDALS6; HEL-220; HEL-S-70; IBMPFD; IBMPFD1; MGC131997; MGC148092; MGC8560; p97; TER ATPase; TERA; transitional endoplasmic reticulum ATPase; valosin-containing protein; yeast Cdc48p homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,056,064 - 35,072,625 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,053,928 - 35,072,668 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,056,061 - 35,072,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,046,560 - 35,062,564 (-)NCBINCBI36Build 36hg18NCBI36
Build 34935,046,560 - 35,062,564NCBI
Celera934,988,041 - 35,004,706 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,011,651 - 35,028,327 (-)NCBIHuRef
CHM1_1935,055,907 - 35,072,605 (-)NCBICHM1_1
T2T-CHM13v2.0935,075,243 - 35,091,804 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcidiol  (ISO)
ceruletide  (ISO)
chenodeoxycholic acid  (EXP)
chloropicrin  (EXP)
chloroquine  (EXP,ISO)
chlorpyrifos  (ISO)
chromium trinitrate  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hyaluronic acid  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (ISO)
isoflavones  (ISO)
ivermectin  (EXP)
L-serine  (EXP)
lactacystin  (EXP)
lead(II) chloride  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
lovastatin  (ISO)
lycopene  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
naphthalene  (ISO)
nefazodone  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP,ISO)
prostaglandin A1  (ISO)
quartz  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
silicon dioxide  (EXP)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
taurine  (EXP)
temozolomide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aggresome assembly  (IEA,ISO)
ATP metabolic process  (IEA)
autophagosome maturation  (IBA,IEA,IMP)
autophagy  (IEA,IMP)
cellular response to arsenite ion  (IMP)
cellular response to heat  (IMP)
cellular response to misfolded protein  (IMP)
DNA damage response  (IDA)
DNA repair  (IEA,NAS)
double-strand break repair  (IDA)
endoplasmic reticulum stress-induced pre-emptive quality control  (IMP)
endoplasmic reticulum to Golgi vesicle-mediated transport  (IEA,ISO)
endoplasmic reticulum unfolded protein response  (TAS)
endosome to lysosome transport via multivesicular body sorting pathway  (IMP)
ERAD pathway  (IDA,IMP,ISO,TAS)
establishment of protein localization  (TAS)
flavin adenine dinucleotide catabolic process  (IMP)
interstrand cross-link repair  (ISS)
macroautophagy  (IMP)
mitotic spindle disassembly  (IBA,IEA)
NADH metabolic process  (IMP)
negative regulation of protein localization to chromatin  (IDA)
negative regulation of smoothened signaling pathway  (IMP)
positive regulation of ATP biosynthetic process  (IMP)
positive regulation of canonical Wnt signaling pathway  (IDA)
positive regulation of mitochondrial membrane potential  (IEA,IMP)
positive regulation of non-canonical NF-kappaB signal transduction  (IDA)
positive regulation of oxidative phosphorylation  (IMP)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IDA)
positive regulation of protein catabolic process  (IDA)
positive regulation of protein K63-linked deubiquitination  (IDA)
positive regulation of protein-containing complex assembly  (IDA)
positive regulation of ubiquitin-dependent protein catabolic process  (IEA,ISO)
proteasomal protein catabolic process  (IMP)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IEA,IMP,NAS)
protein ubiquitination  (IDA,NAS)
protein-DNA covalent cross-linking repair  (IDA)
regulation of aerobic respiration  (IMP)
regulation of apoptotic process  (TAS)
regulation of protein localization to chromatin  (IDA)
regulation of synapse organization  (IEA)
retrograde protein transport, ER to cytosol  (IBA,IDA,IEA,IMP,ISO)
stress granule disassembly  (IDA,IMP)
translesion synthesis  (IMP)
ubiquitin-dependent protein catabolic process  (IEA,ISO,NAS)
viral genome replication  (IMP)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal calvaria morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal long bone morphology  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal mitochondrial morphology  (IAGP)
Abnormal motor neuron morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Abnormal skeletal morphology  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the musculature of the lower limbs  (IAGP)
Abnormality of the vertebral column  (IAGP)
Abolished vibration sense  (IAGP)
Absent Achilles reflex  (IAGP)
Abulia  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alexia  (IAGP)
Alzheimer disease  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Ankle clonus  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apraxia  (IAGP)
Arthralgia  (IAGP)
Astrocytosis  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Back pain  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bone pain  (IAGP)
Bowel incontinence  (IAGP)
Brain atrophy  (IAGP)
Brain neoplasm  (IAGP)
Brisk reflexes  (IAGP)
Broad-based gait  (IAGP)
Bulbar palsy  (IAGP)
Cachexia  (IAGP)
Calvarial hyperostosis  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Cognitive impairment  (IAGP)
Collectionism  (IAGP)
Congestive heart failure  (IAGP)
Cranial nerve compression  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Deficit in grammar  (IAGP)
Degeneration of the lateral corticospinal tracts  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Difficulty walking  (IAGP)
Disinhibition  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dyscalculia  (IAGP)
Dysgraphia  (IAGP)
Dyslexia  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (IAGP)
Dystonia  (IAGP)
Echolalia  (IAGP)
EEG with continuous slow activity  (IAGP)
Elevated alkaline phosphatase of bone origin  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: chronic denervation signs  (IAGP)
EMG: myopathic abnormalities  (IAGP)
EMG: neuropathic changes  (IAGP)
Emotional blunting  (IAGP)
Emotional lability  (IAGP)
Expressive aphasia  (IAGP)
Facial diplegia  (IAGP)
Facial palsy  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Frontal cortical atrophy  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized muscle weakness  (IAGP)
Gliosis  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
Hammertoe  (IAGP)
Hand muscle atrophy  (IAGP)
Hepatic steatosis  (IAGP)
Hip pain  (IAGP)
Hyperlordosis  (IAGP)
Hyperorality  (IAGP)
Hyperreflexia  (IAGP)
Hyporeflexia  (IAGP)
Impaired distal tactile sensation  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired pain sensation  (IAGP)
Impaired tactile sensation  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Inappropriate behavior  (IAGP)
Increased spinal bone density  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intellectual disability  (IAGP)
Intrinsic hand muscle atrophy  (IAGP)
Irritability  (IAGP)
Jaw hyperreflexia  (IAGP)
Lack of insight  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Late young adult onset  (IAGP)
Lewy bodies  (IAGP)
Limb fasciculations  (IAGP)
Limb muscle weakness  (IAGP)
Limited knee flexion  (IAGP)
Loss of ambulation  (IAGP)
Loss of speech  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Lumbar hyperlordosis  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Middle age onset  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor axonal neuropathy  (IAGP)
Motor neuron atrophy  (IAGP)
Motor stereotypy  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Mutism  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Nausea and vomiting  (IAGP)
Necrotizing myopathy  (IAGP)
Neurodegeneration  (IAGP)
Neurofibrillary tangles  (IAGP)
Neuronal loss in the cerebral cortex  (IAGP)
Osteolysis  (IAGP)
Paget disease of bone  (IAGP)
Pain  (IAGP)
Paralysis  (IAGP)
Paraparesis  (IAGP)
Paresthesia  (IAGP)
Parkinsonism  (IAGP)
Pathologic fracture  (IAGP)
Pelvic girdle amyotrophy  (IAGP)
Pelvic girdle muscle atrophy  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Perseverative thought  (IAGP)
Personality changes  (IAGP)
Pes cavus  (IAGP)
Poor fine motor coordination  (IAGP)
Poor speech  (IAGP)
Progressive  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Progressive neurologic deterioration  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Progressive spinal muscular atrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Quadriceps muscle weakness  (IAGP)
Recurrent fractures  (IAGP)
Reduced tendon reflexes  (IAGP)
Reduced vital capacity  (IAGP)
Respiratory failure  (IAGP)
Restlessness  (IAGP)
Restrictive behavior  (IAGP)
Rimmed vacuoles  (IAGP)
Scapular winging  (IAGP)
Senile plaques  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensory axonal neuropathy  (IAGP)
Short stature  (IAGP)
Shoulder girdle muscle atrophy  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Spoken word recognition deficit  (IAGP)
Steppage gait  (IAGP)
Stroke  (IAGP)
Supranuclear gaze palsy  (IAGP)
Temporal cortical atrophy  (IAGP)
Tetraparesis  (IAGP)
Thickened nuchal skin fold  (IAGP)
Tip-toe gait  (IAGP)
Tongue atrophy  (IAGP)
Tongue fasciculations  (IAGP)
Tremor  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Ubiquitin-positive cerebral inclusion bodies  (IAGP)
Upper limb muscle weakness  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Waddling gait  (IAGP)
Weakness due to upper motor neuron dysfunction  (IAGP)
Weakness of muscles of respiration  (IAGP)
Weakness of the intrinsic hand muscles  (IAGP)
Xerostomia  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Oestrogen receptor-beta CA repeat polymorphism is associated with incidence of colorectal cancer among females. Honma N, etal., Histopathology. 2011 Aug;59(2):216-24. doi: 10.1111/j.1365-2559.2011.03914.x.
3. The ESR2 AluI 1730G>A (rs4986938) gene polymorphism is associated with fibrinogen plasma levels in postmenopausal women. Marini H, etal., Gene. 2012 Oct 25;508(2):206-10. doi: 10.1016/j.gene.2012.08.004. Epub 2012 Aug 11.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Double-strand break repair: 53BP1 comes into focus. Panier S and Boulton SJ, Nat Rev Mol Cell Biol. 2014 Jan;15(1):7-18. doi: 10.1038/nrm3719. Epub 2013 Dec 11.
6. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Watts GD, etal., Nat Genet. 2004 Apr;36(4):377-81. Epub 2004 Mar 21.
Additional References at PubMed
PMID:1602151   PMID:7553851   PMID:8413590   PMID:8595912   PMID:8889548   PMID:9286697   PMID:9321476   PMID:9452483   PMID:9506515   PMID:10350210   PMID:10364224   PMID:10855792  
PMID:10930447   PMID:10931946   PMID:11087817   PMID:11252708   PMID:11483959   PMID:11689694   PMID:11913976   PMID:11927012   PMID:12351637   PMID:12473691   PMID:12477932   PMID:12504076  
PMID:12504083   PMID:12509440   PMID:12529442   PMID:12560433   PMID:12663780   PMID:12665801   PMID:12807884   PMID:12810701   PMID:12937274   PMID:12944474   PMID:14532270   PMID:14743216  
PMID:14749733   PMID:14760088   PMID:15037256   PMID:15161933   PMID:15189447   PMID:15215856   PMID:15331598   PMID:15362974   PMID:15371428   PMID:15452376   PMID:15456787   PMID:15588985  
PMID:15592455   PMID:15723043   PMID:15732117   PMID:15743842   PMID:15752563   PMID:15883021   PMID:15932873   PMID:15952740   PMID:16009940   PMID:16027165   PMID:16051665   PMID:16130169  
PMID:16140914   PMID:16159877   PMID:16168377   PMID:16186509   PMID:16186510   PMID:16196087   PMID:16212419   PMID:16234241   PMID:16236267   PMID:16247064   PMID:16275660   PMID:16289116  
PMID:16306228   PMID:16344560   PMID:16386250   PMID:16407162   PMID:16449189   PMID:16461343   PMID:16513638   PMID:16525503   PMID:16551632   PMID:16601695   PMID:16621797   PMID:16723740  
PMID:16783167   PMID:16807242   PMID:16822850   PMID:16901789   PMID:16914519   PMID:16954204   PMID:16966435   PMID:16968747   PMID:16987818   PMID:17110338   PMID:17141156   PMID:17200190  
PMID:17220478   PMID:17272822   PMID:17311810   PMID:17314412   PMID:17346713   PMID:17353931   PMID:17368566   PMID:17457594   PMID:17493577   PMID:17525332   PMID:17550899   PMID:17618707  
PMID:17620599   PMID:17622780   PMID:17626287   PMID:17681147   PMID:17683050   PMID:17763460   PMID:17872946   PMID:17889967   PMID:17907600   PMID:17935506   PMID:18022694   PMID:18029348  
PMID:18044963   PMID:18048502   PMID:18160415   PMID:18166610   PMID:18199748   PMID:18216283   PMID:18261755   PMID:18279508   PMID:18341608   PMID:18400946   PMID:18544453   PMID:18550891  
PMID:18586029   PMID:18654987   PMID:18656546   PMID:18675248   PMID:18706391   PMID:18711132   PMID:18775313   PMID:18811591   PMID:18835813   PMID:19056867   PMID:19164805   PMID:19174149  
PMID:19175675   PMID:19193609   PMID:19208399   PMID:19237541   PMID:19240031   PMID:19275885   PMID:19286132   PMID:19356220   PMID:19364651   PMID:19506019   PMID:19570996   PMID:19615732  
PMID:19704082   PMID:19730691   PMID:19738201   PMID:19815544   PMID:19815549   PMID:19818707   PMID:19822669   PMID:19826004   PMID:19828134   PMID:19828315   PMID:19843543   PMID:19887378  
PMID:19900192   PMID:19913121   PMID:20008565   PMID:20020773   PMID:20057067   PMID:20085233   PMID:20097236   PMID:20100830   PMID:20104022   PMID:20116073   PMID:20126661   PMID:20301623  
PMID:20301649   PMID:20335036   PMID:20348541   PMID:20360068   PMID:20395553   PMID:20410307   PMID:20414249   PMID:20427671   PMID:20435896   PMID:20442859   PMID:20458337   PMID:20508983  
PMID:20512113   PMID:20628086   PMID:20702414   PMID:20876349   PMID:20935584   PMID:20938780   PMID:21081666   PMID:21118995   PMID:21135095   PMID:21145000   PMID:21145461   PMID:21152665  
PMID:21173115   PMID:21186355   PMID:21249466   PMID:21282470   PMID:21319273   PMID:21320982   PMID:21343306   PMID:21387114   PMID:21501964   PMID:21556036   PMID:21630459   PMID:21636303  
PMID:21645854   PMID:21653829   PMID:21684747   PMID:21733848   PMID:21741246   PMID:21781992   PMID:21811234   PMID:21822278   PMID:21832065   PMID:21857022   PMID:21873635   PMID:21896481  
PMID:21900206   PMID:21909096   PMID:21909394   PMID:21914798   PMID:21918864   PMID:21920633   PMID:21949850   PMID:21959292   PMID:21981919   PMID:21983102   PMID:21984748   PMID:21988832  
PMID:22038470   PMID:22040362   PMID:22078486   PMID:22090097   PMID:22102026   PMID:22105171   PMID:22119785   PMID:22120668   PMID:22137929   PMID:22190034   PMID:22196955   PMID:22207755  
PMID:22210628   PMID:22216170   PMID:22270372   PMID:22298039   PMID:22321369   PMID:22328510   PMID:22337587   PMID:22349865   PMID:22350894   PMID:22355145   PMID:22360420   PMID:22379090  
PMID:22466964   PMID:22536440   PMID:22572540   PMID:22579784   PMID:22586326   PMID:22590560   PMID:22607976   PMID:22623428   PMID:22681889   PMID:22686199   PMID:22699758   PMID:22789697  
PMID:22795130   PMID:22863883   PMID:22870330   PMID:22900631   PMID:22902628   PMID:22939629   PMID:22948820   PMID:22970133   PMID:23000505   PMID:23042605   PMID:23042607   PMID:23097496  
PMID:23102936   PMID:23108140   PMID:23140793   PMID:23152587   PMID:23184937   PMID:23190606   PMID:23246001   PMID:23250913   PMID:23293021   PMID:23297223   PMID:23333620   PMID:23335559  
PMID:23349634   PMID:23376485   PMID:23383273   PMID:23393163   PMID:23402259   PMID:23412975   PMID:23414517   PMID:23438482   PMID:23443559   PMID:23457492   PMID:23498974   PMID:23498975  
PMID:23500464   PMID:23503661   PMID:23533145   PMID:23533167   PMID:23618873   PMID:23652004   PMID:23665563   PMID:23722536   PMID:23747190   PMID:23747512   PMID:23782134   PMID:23791177  
PMID:23798571   PMID:23844095   PMID:23867461   PMID:23907667   PMID:23964080   PMID:24019527   PMID:24025715   PMID:24055316   PMID:24085347   PMID:24089527   PMID:24100225   PMID:24104479  
PMID:24129571   PMID:24147044   PMID:24152492   PMID:24160817   PMID:24163436   PMID:24196352   PMID:24196964   PMID:24215292   PMID:24248593   PMID:24377547   PMID:24417208   PMID:24424410  
PMID:24429874   PMID:24448410   PMID:24457600   PMID:24598262   PMID:24610782   PMID:24700463   PMID:24711643   PMID:24722188   PMID:24726323   PMID:24726327   PMID:24807418   PMID:24811749  
PMID:24820123   PMID:24841198   PMID:24855649   PMID:24885147   PMID:25008318   PMID:25034784   PMID:25078495   PMID:25084388   PMID:25088257   PMID:25118285   PMID:25125609   PMID:25146396  
PMID:25147182   PMID:25192599   PMID:25231079   PMID:25416956   PMID:25437307   PMID:25447673   PMID:25457024   PMID:25463965   PMID:25492614   PMID:25526666   PMID:25566966   PMID:25593058  
PMID:25618255   PMID:25660456   PMID:25694454   PMID:25756610   PMID:25775548   PMID:25796446   PMID:25814554   PMID:25865307   PMID:25874486   PMID:25878907   PMID:25921289   PMID:25959826  
PMID:25963833   PMID:25970786   PMID:26107514   PMID:26112410   PMID:26134898   PMID:26168958   PMID:26186194   PMID:26217791   PMID:26265139   PMID:26311884   PMID:26320413   PMID:26337389  
PMID:26344197   PMID:26389662   PMID:26424800   PMID:26463207   PMID:26463447   PMID:26471130   PMID:26471729   PMID:26475856   PMID:26496610   PMID:26504085   PMID:26511028   PMID:26511642  
PMID:26549226   PMID:26555175   PMID:26565908   PMID:26618866   PMID:26641092   PMID:26712278   PMID:26712280   PMID:26720340   PMID:26725010   PMID:26777405   PMID:26797118   PMID:26816005  
PMID:26822609   PMID:26826127   PMID:26831064   PMID:26842564   PMID:26849035   PMID:26945068   PMID:26949251   PMID:26972000   PMID:26990986   PMID:27114451   PMID:27129302   PMID:27226613  
PMID:27342126   PMID:27344168   PMID:27375898   PMID:27387505   PMID:27407164   PMID:27462432   PMID:27512140   PMID:27545878   PMID:27561680   PMID:27591049   PMID:27594680   PMID:27609421  
PMID:27623077   PMID:27653958   PMID:27684187   PMID:27684549   PMID:27714797   PMID:27716483   PMID:27716508   PMID:27753622   PMID:27762274   PMID:27785701   PMID:27812135   PMID:27851749  
PMID:27887991   PMID:27913212   PMID:28027390   PMID:28036256   PMID:28057766   PMID:28115426   PMID:28137758   PMID:28180282   PMID:28183703   PMID:28190767   PMID:28192407   PMID:28244869  
PMID:28274878   PMID:28275011   PMID:28301499   PMID:28302793   PMID:28315680   PMID:28320958   PMID:28360103   PMID:28443643   PMID:28494016   PMID:28512218   PMID:28514442   PMID:28515276  
PMID:28551275   PMID:28564594   PMID:28575658   PMID:28581483   PMID:28614300   PMID:28675297   PMID:28685749   PMID:28689657   PMID:28692196   PMID:28819009   PMID:28878026   PMID:28902428  
PMID:28939772   PMID:28970065   PMID:28977470   PMID:29117863   PMID:29128334   PMID:29149599   PMID:29180510   PMID:29180619   PMID:29229926   PMID:29357390   PMID:29395067   PMID:29467281  
PMID:29467282   PMID:29491746   PMID:29507755   PMID:29509190   PMID:29540532   PMID:29599191   PMID:29653964   PMID:29655804   PMID:29656893   PMID:29676259   PMID:29685906   PMID:29791485  
PMID:29804830   PMID:29845934   PMID:29859926   PMID:29872149   PMID:29884807   PMID:29892012   PMID:29941173   PMID:29991511   PMID:29997244   PMID:30021884   PMID:30029282   PMID:30069866  
PMID:30097533   PMID:30100055   PMID:30103325   PMID:30126895   PMID:30196744   PMID:30209976   PMID:30309841   PMID:30335548   PMID:30344098   PMID:30352685   PMID:30381397   PMID:30401747  
PMID:30442662   PMID:30455355   PMID:30488450   PMID:30575818   PMID:30626938   PMID:30699358   PMID:30711629   PMID:30783609   PMID:30809309   PMID:30833792   PMID:30886048   PMID:30890647  
PMID:31059266   PMID:31073040   PMID:31091164   PMID:31091453   PMID:31177093   PMID:31180492   PMID:31239290   PMID:31267705   PMID:31300519   PMID:31316150   PMID:31324722   PMID:31332168  
PMID:31358864   PMID:31387940   PMID:31391242   PMID:31409639   PMID:31471528   PMID:31477623   PMID:31501420   PMID:31515488   PMID:31527668   PMID:31536960   PMID:31541095   PMID:31551363  
PMID:31577344   PMID:31586073   PMID:31613024   PMID:31623962   PMID:31640799   PMID:31648844   PMID:31659016   PMID:31672844   PMID:31700049   PMID:31701538   PMID:31723608   PMID:31732153  
PMID:31740976   PMID:31753913   PMID:31767634   PMID:31775559   PMID:31847414   PMID:31871319   PMID:31898222   PMID:31980649   PMID:31985874   PMID:31995728   PMID:32002125   PMID:32025036  
PMID:32067276   PMID:32129710   PMID:32149426   PMID:32152270   PMID:32243810   PMID:32289342   PMID:32291299   PMID:32296183   PMID:32416067   PMID:32423001   PMID:32457219   PMID:32481679  
PMID:32552912   PMID:32645369   PMID:32671691   PMID:32687490   PMID:32728610   PMID:32780723   PMID:32789493   PMID:32807901   PMID:32814053   PMID:32850835   PMID:32877691   PMID:32938586  
PMID:32963011   PMID:33004675   PMID:33022573   PMID:33024031   PMID:33058883   PMID:33239621   PMID:33339634   PMID:33378226   PMID:33381997   PMID:33402676   PMID:33415820   PMID:33417871  
PMID:33432690   PMID:33439255   PMID:33479240   PMID:33510452   PMID:33514738   PMID:33545068   PMID:33555040   PMID:33558481   PMID:33567341   PMID:33620660   PMID:33644029   PMID:33703976  
PMID:33711283   PMID:33729478   PMID:33742100   PMID:33762435   PMID:33766124   PMID:33863777   PMID:33916271   PMID:33941661   PMID:33957083   PMID:33961781   PMID:33979096   PMID:33990333  
PMID:34011540   PMID:34038735   PMID:34079125   PMID:34099490   PMID:34133214   PMID:34133714   PMID:34144977   PMID:34147029   PMID:34226595   PMID:34244020   PMID:34244482   PMID:34262183  
PMID:34360842   PMID:34373451   PMID:34428256   PMID:34520757   PMID:34553755   PMID:34583995   PMID:34591877   PMID:34599178   PMID:34632910   PMID:34642328   PMID:34644576   PMID:34645483  
PMID:34696522   PMID:34709727   PMID:34728620   PMID:34739333   PMID:34761751   PMID:34780058   PMID:34824462   PMID:34831176   PMID:34901782   PMID:34964862   PMID:35007762   PMID:35013556  
PMID:35032548   PMID:35122331   PMID:35256949   PMID:35271311   PMID:35349166   PMID:35356984   PMID:35385564   PMID:35389758   PMID:35405035   PMID:35446349   PMID:35469923   PMID:35509820  
PMID:35530310   PMID:35546148   PMID:35552390   PMID:35562734   PMID:35563018   PMID:35563538   PMID:35681168   PMID:35687106   PMID:35696571   PMID:35704671   PMID:35741724   PMID:35831314  
PMID:35841038   PMID:35842429   PMID:35850772   PMID:35864588   PMID:35914814   PMID:35920641   PMID:35944360   PMID:35961308   PMID:36042349   PMID:36055981   PMID:36057605   PMID:36065190  
PMID:36088301   PMID:36114006   PMID:36114200   PMID:36168627   PMID:36180527   PMID:36180891   PMID:36215168   PMID:36244648   PMID:36261009   PMID:36288698   PMID:36300783   PMID:36318477  
PMID:36339263   PMID:36424410   PMID:36490346   PMID:36517590   PMID:36543142   PMID:36574265   PMID:36584595   PMID:36597993   PMID:36610398   PMID:36656859   PMID:36692217   PMID:36695651  
PMID:36746962   PMID:36762613   PMID:36779763   PMID:36857408   PMID:36880596   PMID:36896912   PMID:36980948   PMID:37002192   PMID:37120454   PMID:37287368   PMID:37374283   PMID:37545006  
PMID:37689310   PMID:37713320   PMID:37756124   PMID:37788309   PMID:37816088   PMID:37827155   PMID:37866880   PMID:37883978   PMID:37931956   PMID:38081446   PMID:38113892   PMID:38335961  
PMID:38467645  


Genomics

Comparative Map Data
VCP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,056,064 - 35,072,625 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,053,928 - 35,072,668 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,056,061 - 35,072,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,046,560 - 35,062,564 (-)NCBINCBI36Build 36hg18NCBI36
Build 34935,046,560 - 35,062,564NCBI
Celera934,988,041 - 35,004,706 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,011,651 - 35,028,327 (-)NCBIHuRef
CHM1_1935,055,907 - 35,072,605 (-)NCBICHM1_1
T2T-CHM13v2.0935,075,243 - 35,091,804 (-)NCBIT2T-CHM13v2.0
Vcp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39442,979,964 - 43,000,507 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl442,979,963 - 43,000,507 (-)EnsemblGRCm39 Ensembl
GRCm38442,979,964 - 43,000,507 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl442,979,963 - 43,000,507 (-)EnsemblGRCm38mm10GRCm38
MGSCv37442,992,836 - 43,013,379 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36443,001,064 - 43,021,534 (-)NCBIMGSCv36mm8
Celera443,010,123 - 43,030,659 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map422.95NCBI
Vcp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8562,005,984 - 62,025,387 (-)NCBIGRCr8
mRatBN7.2557,210,167 - 57,229,571 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl557,210,168 - 57,229,571 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx559,183,339 - 59,202,747 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0561,002,153 - 61,021,561 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0560,987,322 - 61,006,704 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0558,426,548 - 58,445,953 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,426,549 - 58,445,953 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0562,951,999 - 62,971,402 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,472,100 - 59,491,508 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1559,472,279 - 59,491,687 (-)NCBI
Celera555,799,589 - 55,818,873 (-)NCBICelera
Cytogenetic Map5q22NCBI
Vcp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,107,164 - 1,124,076 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,111,649 - 1,124,076 (+)NCBIChiLan1.0ChiLan1.0
VCP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21189,517,045 - 89,533,247 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1989,522,985 - 89,539,187 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0934,907,147 - 34,923,227 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1935,712,937 - 35,729,588 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,712,937 - 35,729,588 (-)Ensemblpanpan1.1panPan2
VCP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,636,986 - 51,651,749 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,637,411 - 51,651,714 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,205,792 - 50,220,556 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01152,702,444 - 52,717,215 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1152,702,830 - 52,724,878 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11151,246,536 - 51,261,297 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01151,231,677 - 51,246,443 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01151,933,494 - 51,948,301 (-)NCBIUU_Cfam_GSD_1.0
Vcp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947166,538,385 - 166,554,770 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365243,085,500 - 3,102,466 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365243,085,959 - 3,102,461 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VCP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1235,851,206 - 235,869,634 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11235,854,532 - 235,869,712 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21263,379,929 - 263,394,992 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VCP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11245,545,139 - 45,560,702 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1245,545,507 - 45,563,380 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603842,661,397 - 42,677,470 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vcp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624915253,240 - 270,501 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624915253,240 - 270,440 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VCP
563 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007126.5(VCP):c.1082-9G>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000546267]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001166032]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001166033]|not provided [RCV001702503]|not specified [RCV001289413] Chr9:35061698 [GRCh38]
Chr9:35061695 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.303-3C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002231754] Chr9:35066820 [GRCh38]
Chr9:35066817 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.426G>A (p.Ala142=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000525916]|Inborn genetic diseases [RCV002330872]|not provided [RCV000598290] Chr9:35066694 [GRCh38]
Chr9:35066691 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002233733]|not provided [RCV000728008] Chr9:35067916 [GRCh38]
Chr9:35067913 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.258A>G (p.Arg86=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001408701]|Inborn genetic diseases [RCV002424743]|not provided [RCV000729518] Chr9:35067935 [GRCh38]
Chr9:35067932 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.1242G>A (p.Leu414=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001221457]|Inborn genetic diseases [RCV002386295]|not provided [RCV000729642] Chr9:35061132 [GRCh38]
Chr9:35061129 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.1156A>G (p.Lys386Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001346989]|not provided [RCV000729360] Chr9:35061615 [GRCh38]
Chr9:35061612 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.576+10C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001496176] Chr9:35065241 [GRCh38]
Chr9:35065238 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1017A>G (p.Ala339=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001467986]|Inborn genetic diseases [RCV002350261] Chr9:35062067 [GRCh38]
Chr9:35062064 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2077C>T (p.Arg693Cys) single nucleotide variant not provided [RCV000523151] Chr9:35059147 [GRCh38]
Chr9:35059144 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.1160A>C (p.Asn387Thr) single nucleotide variant not specified [RCV000517850] Chr9:35061611 [GRCh38]
Chr9:35061608 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.464G>A (p.Arg155His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000540496]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001271089]|Inborn genetic diseases [RCV002336080]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000008989]|not provided [RCV000523065] Chr9:35065363 [GRCh38]
Chr9:35065360 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000685660]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001095424]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000008990]|not provided [RCV000372207] Chr9:35065364 [GRCh38]
Chr9:35065361 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_007126.5(VCP):c.695C>A (p.Ala232Glu) single nucleotide variant Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000008991]|not provided [RCV001172005] Chr9:35064167 [GRCh38]
Chr9:35064164 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.283C>G (p.Arg95Gly) single nucleotide variant Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000008992] Chr9:35067910 [GRCh38]
Chr9:35067907 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.464G>C (p.Arg155Pro) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001387337]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000008993]|not provided [RCV003137504] Chr9:35065363 [GRCh38]
Chr9:35065360 [GRCh37]
Chr9:9p13.3		 pathogenic|uncertain significance
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000023064]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000555373]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000008994]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV002496309]|not provided [RCV000516636] Chr9:35065255 [GRCh38]
Chr9:35065252 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007126.5(VCP):c.476G>A (p.Arg159His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000639653]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003335021]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000008995]|VCP-related condition [RCV003924818]|not provided [RCV000276565] Chr9:35065351 [GRCh38]
Chr9:35065348 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.475C>G (p.Arg159Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000023065] Chr9:35065352 [GRCh38]
Chr9:35065349 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000023066] Chr9:35059723 [GRCh38]
Chr9:35059720 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_007126.3(VCP):c.489C>T (p.Phe163=) single nucleotide variant Malignant melanoma [RCV000068646] Chr9:35065338 [GRCh38]
Chr9:35065335 [GRCh37]
Chr9:35055335 [NCBI36]
Chr9:9p13.3		 not provided
NM_007126.5(VCP):c.2214A>G (p.Glu738=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000399763]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001087937]|Inborn genetic diseases [RCV002426834]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000346373]|not provided [RCV000526744]|not specified [RCV000175065] Chr9:35057477 [GRCh38]
Chr9:35057474 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.1854C>T (p.Phe618=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003104306] Chr9:35059643 [GRCh38]
Chr9:35059640 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
NM_007126.5(VCP):c.2406T>C (p.Asp802=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001085623]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168166]|Inborn genetic diseases [RCV002444698]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001167538]|not provided [RCV000762559]|not specified [RCV000175197] Chr9:35057132 [GRCh38]
Chr9:35057129 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2Y [RCV000202444]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002229147]|Inborn genetic diseases [RCV002345722] Chr9:35065274 [GRCh38]
Chr9:35065271 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2Y [RCV000202492]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001853259] Chr9:35067903 [GRCh38]
Chr9:35067900 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
NM_007126.5(VCP):c.463C>G (p.Arg155Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002229498]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000196145]|not provided [RCV000494556] Chr9:35065364 [GRCh38]
Chr9:35065361 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001271088]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002519583]|INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 [RCV001271081]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000201935] Chr9:35067922 [GRCh38]
Chr9:35067919 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095441]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001215048]|Inborn genetic diseases [RCV002436094]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000761344]|Spastic paraplegia [RCV001391611]|not provided [RCV000280148] Chr9:35067910 [GRCh38]
Chr9:35067907 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_007126.5(VCP):c.*4G>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000291446]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000376145]|Intellectual disability [RCV001252622]|not provided [RCV001559813]|not specified [RCV000301970] Chr9:35057113 [GRCh38]
Chr9:35057110 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001095425]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002229732]|not provided [RCV000333881] Chr9:35065352 [GRCh38]
Chr9:35065349 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_007126.5(VCP):c.1704A>G (p.Gln568=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000390268]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001083290]|Inborn genetic diseases [RCV002401958]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000312517]|VCP-related condition [RCV003891941]|not provided [RCV000714165]|not specified [RCV000246121] Chr9:35059793 [GRCh38]
Chr9:35059790 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.1082-18_1082-8dup duplication Amyotrophic Lateral Sclerosis, Dominant [RCV000321686]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000639658]|Inclusion Body Myopathy, Dominant [RCV000383262]|VCP-related condition [RCV003891940]|not provided [RCV001597014]|not specified [RCV000243886] Chr9:35061696..35061697 [GRCh38]
Chr9:35061693..35061694 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.129+47G>A single nucleotide variant Charcot-Marie-Tooth disease type 2Y [RCV002244624]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002244623]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV002244622]|not provided [RCV001660302]|not specified [RCV000253783] Chr9:35068204 [GRCh38]
Chr9:35068201 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.1194+9ATG[2] microsatellite Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002058219]|not specified [RCV000249024] Chr9:35061560..35061562 [GRCh38]
Chr9:35061557..35061559 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1360-35A>G single nucleotide variant Charcot-Marie-Tooth disease type 2Y [RCV002244627]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002244626]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV002244625]|not provided [RCV001610680]|not specified [RCV000249111] Chr9:35060958 [GRCh38]
Chr9:35060955 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.1360-14C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000324520]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002058220]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000259903]|not provided [RCV001579713]|not specified [RCV000244337] Chr9:35060937 [GRCh38]
Chr9:35060934 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.1695+8A>G single nucleotide variant Charcot-Marie-Tooth disease type 2Y [RCV002244628]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000367237]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001520362]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000393728]|not provided [RCV000710280]|not specified [RCV000254320] Chr9:35060305 [GRCh38]
Chr9:35060302 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.577-21_577-18del microsatellite Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002058221]|not specified [RCV000254424] Chr9:35064303..35064306 [GRCh38]
Chr9:35064300..35064303 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2316-48C>T single nucleotide variant not specified [RCV000249624] Chr9:35057270 [GRCh38]
Chr9:35057267 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1081+17C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002058218]|not provided [RCV001579998]|not specified [RCV000252085] Chr9:35061986 [GRCh38]
Chr9:35061983 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.811+3G>A single nucleotide variant Charcot-Marie-Tooth disease type 2Y [RCV002244629]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000294534]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001520363]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000382040]|not provided [RCV000710281]|not specified [RCV000244946] Chr9:35062975 [GRCh38]
Chr9:35062972 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.*64C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000340221]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000285114] Chr9:35057053 [GRCh38]
Chr9:35057050 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*382C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000269388]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000363922] Chr9:35056735 [GRCh38]
Chr9:35056732 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*438A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000303765]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000339601] Chr9:35056679 [GRCh38]
Chr9:35056676 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.-267C>T single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000270492]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001166090]|Inclusion Body Myopathy, Dominant [RCV000362697]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001166091] Chr9:35072620 [GRCh38]
Chr9:35072617 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.927C>T (p.Ile309=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000325072]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001080044]|Inborn genetic diseases [RCV002374609]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000291230]|not provided [RCV000714167]|not specified [RCV000728435] Chr9:35062235 [GRCh38]
Chr9:35062232 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.*384del deletion Amyotrophic Lateral Sclerosis, Dominant [RCV000390511]|Inclusion Body Myopathy, Dominant [RCV000309265] Chr9:35056733 [GRCh38]
Chr9:35056730 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*906A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000330855]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000386372] Chr9:35056211 [GRCh38]
Chr9:35056208 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.18-5T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000293440]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001086142]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000338806]|not provided [RCV000548347]|not specified [RCV001699407] Chr9:35068367 [GRCh38]
Chr9:35068364 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.*700C>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000373728]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000279189]|not provided [RCV003430970] Chr9:35056417 [GRCh38]
Chr9:35056414 [GRCh37]
Chr9:9p13.3		 benign|uncertain significance
NM_007126.5(VCP):c.*153G>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000315799]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000379622]|not provided [RCV001675887] Chr9:35056964 [GRCh38]
Chr9:35056961 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.1092C>T (p.Asp364=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000264259]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000560152]|Inborn genetic diseases [RCV002446629]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000360586]|VCP-related condition [RCV003902436]|not provided [RCV001559823]|not specified [RCV001700365] Chr9:35061679 [GRCh38]
Chr9:35061676 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.-53C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000400582]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000298964] Chr9:35072406 [GRCh38]
Chr9:35072403 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1360-6T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000299794]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003766109]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000354748] Chr9:35060929 [GRCh38]
Chr9:35060926 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.*596C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000401604]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000343505] Chr9:35056521 [GRCh38]
Chr9:35056518 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.954C>T (p.Gly318=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001069332]|not provided [RCV000338106] Chr9:35062130 [GRCh38]
Chr9:35062127 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.*172C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000373981]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000260516] Chr9:35056945 [GRCh38]
Chr9:35056942 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*788G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000337724]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000282676] Chr9:35056329 [GRCh38]
Chr9:35056326 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.-250C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000272098]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000329052] Chr9:35072603 [GRCh38]
Chr9:35072600 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.-233GCTGCC[4] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000359673]|Inclusion Body Myopathy, Dominant [RCV000302695] Chr9:35072568..35072569 [GRCh38]
Chr9:35072565..35072566 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1121C>A (p.Ala374Asp) single nucleotide variant not provided [RCV000284424] Chr9:35061650 [GRCh38]
Chr9:35061647 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.79A>G (p.Ile27Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000639655]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168490]|Inborn genetic diseases [RCV002418113]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168987]|Intellectual disability [RCV001252623]|VCP-related condition [RCV003967735]|not provided [RCV001642885]|not specified [RCV000390549] Chr9:35068301 [GRCh38]
Chr9:35068298 [GRCh37]
Chr9:9p13.3		 benign|likely benign|uncertain significance
NM_007126.5(VCP):c.*184G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000275373]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000319333] Chr9:35056933 [GRCh38]
Chr9:35056930 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1584C>T (p.Ala528=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001081085]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168167]|Inborn genetic diseases [RCV002401981]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168925]|VCP-related condition [RCV003909945]|not provided [RCV000321351]|not specified [RCV001580089] Chr9:35060424 [GRCh38]
Chr9:35060421 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.*1035dup duplication Amyotrophic Lateral Sclerosis, Dominant [RCV000275786]|Inclusion Body Myopathy, Dominant [RCV000388903] Chr9:35056081..35056082 [GRCh38]
Chr9:35056078..35056079 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1197A>G (p.Val399=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003765688]|not provided [RCV000395681] Chr9:35061177 [GRCh38]
Chr9:35061174 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.278G>A (p.Arg93His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002231635]|not provided [RCV000520021] Chr9:35067915 [GRCh38]
Chr9:35067912 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
NM_007126.5(VCP):c.1184A>G (p.Asp395Gly) single nucleotide variant FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES [RCV001271084] Chr9:35061587 [GRCh38]
Chr9:35061584 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.*347C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000315190]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000369915] Chr9:35056770 [GRCh38]
Chr9:35056767 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000404884]|Fanconi anemia [RCV000334548]|Fanconi anemia complementation group G [RCV001168308]|Inclusion Body Myopathy, Dominant [RCV000312936]|not provided [RCV003422375]|not specified [RCV000421683] Chr9:35074493 [GRCh38]
Chr9:35074490 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.4(VCP):c.-370G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000332626]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000389517] Chr9:35072723 [GRCh38]
Chr9:35072720 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1856T>C (p.Ile619Thr) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000306523]|Inclusion Body Myopathy, Dominant [RCV000352284] Chr9:35059641 [GRCh38]
Chr9:35059638 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000351753]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000396114] Chr9:35068008 [GRCh38]
Chr9:35068005 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1636+7A>G single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000367549]|Fanconi anemia [RCV000394450]|Fanconi anemia complementation group G [RCV001168309]|Inclusion Body Myopathy, Dominant [RCV000275986]|not provided [RCV001706343]|not specified [RCV000247570] Chr9:35074920 [GRCh38]
Chr9:35074917 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000353275]|FANCG-related condition [RCV003891643]|Fanconi anemia [RCV000229666]|Fanconi anemia complementation group G [RCV001168311]|Inclusion Body Myopathy, Dominant [RCV000317116]|not provided [RCV001194965]|not specified [RCV000121035] Chr9:35075025 [GRCh38]
Chr9:35075022 [GRCh37]
Chr9:9p13.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000323780]|Fanconi anemia [RCV000234540]|Fanconi anemia complementation group G [RCV001166142]|Inclusion Body Myopathy, Dominant [RCV000378873]|not specified [RCV000121040] Chr9:35077270 [GRCh38]
Chr9:35077267 [GRCh37]
Chr9:9p13.3		 benign|likely benign|not provided
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000377286]|FANCG-related condition [RCV003891644]|Fanconi anemia [RCV000302780]|Fanconi anemia complementation group G [RCV001166139]|Inclusion Body Myopathy, Dominant [RCV000282744]|not provided [RCV000514324]|not specified [RCV000121041] Chr9:35076758 [GRCh38]
Chr9:35076755 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000318068]|Fanconi anemia [RCV000342448]|Fanconi anemia complementation group G [RCV001169045]|Inclusion Body Myopathy, Dominant [RCV000262883]|not provided [RCV001573471]|not specified [RCV000121044] Chr9:35075972 [GRCh38]
Chr9:35075969 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_007126.5(VCP):c.-215A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000407512]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000360664] Chr9:35072568 [GRCh38]
Chr9:35072565 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1929C>T (p.Ile643=) single nucleotide variant Inborn genetic diseases [RCV002413684]|not provided [RCV000591899] Chr9:35059568 [GRCh38]
Chr9:35059565 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.1896C>A (p.Ala632=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001403231]|Inborn genetic diseases [RCV002413682]|VCP-related condition [RCV003927937]|not provided [RCV000598527] Chr9:35059601 [GRCh38]
Chr9:35059598 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.2121T>G (p.Ile707Met) single nucleotide variant not provided [RCV000592679] Chr9:35059103 [GRCh38]
Chr9:35059100 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.555A>C (p.Glu185Asp) single nucleotide variant not provided [RCV000730388] Chr9:35065272 [GRCh38]
Chr9:35065269 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.552C>T (p.Cys184=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002232623]|Inborn genetic diseases [RCV002343262] Chr9:35065275 [GRCh38]
Chr9:35065272 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.213C>T (p.Val71=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002233478]|Inborn genetic diseases [RCV002424422] Chr9:35067980 [GRCh38]
Chr9:35067977 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.303-160C>T single nucleotide variant not provided [RCV001572012] Chr9:35066977 [GRCh38]
Chr9:35066974 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000534353]|Inborn genetic diseases [RCV002350262]|VCP-related condition [RCV003915545]|not provided [RCV001579523] Chr9:35061172 [GRCh38]
Chr9:35061169 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_007126.5(VCP):c.1863C>T (p.Gly621=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001462593]|Inborn genetic diseases [RCV002406659]|not provided [RCV000728329] Chr9:35059634 [GRCh38]
Chr9:35059631 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.2412G>A (p.Leu804=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001463039]|Inborn genetic diseases [RCV002448686] Chr9:35057126 [GRCh38]
Chr9:35057123 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.811+2T>C single nucleotide variant Inborn genetic diseases [RCV002422632]|not provided [RCV000733871] Chr9:35062976 [GRCh38]
Chr9:35062973 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2283C>T (p.Thr761=) single nucleotide variant Inborn genetic diseases [RCV002442556]|not provided [RCV000731379] Chr9:35057408 [GRCh38]
Chr9:35057405 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.284G>C (p.Arg95Pro) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001046936]|not provided [RCV000731593] Chr9:35067909 [GRCh38]
Chr9:35067906 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
NM_007126.5(VCP):c.340A>G (p.Ile114Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000801185]|Inborn genetic diseases [RCV002332532]|VCP-related condition [RCV003420311]|not provided [RCV000733637] Chr9:35066780 [GRCh38]
Chr9:35066777 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.1488T>C (p.Pro496=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001402342]|Inborn genetic diseases [RCV002388365]|not provided [RCV000730972] Chr9:35060520 [GRCh38]
Chr9:35060517 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_007126.5(VCP):c.1374G>C (p.Gln458His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000449528] Chr9:35060909 [GRCh38]
Chr9:35060906 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_007126.5(VCP):c.827G>C (p.Ser276Thr) single nucleotide variant not specified [RCV000518809] Chr9:35062335 [GRCh38]
Chr9:35062332 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_007126.5(VCP):c.812G>C (p.Gly271Ala) single nucleotide variant not provided [RCV000483569] Chr9:35062350 [GRCh38]
Chr9:35062347 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.383G>C (p.Gly128Ala) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003766796]|not provided [RCV000498690] Chr9:35066737 [GRCh38]
Chr9:35066734 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
NM_007126.5(VCP):c.1614C>G (p.Asn538Lys) single nucleotide variant not provided [RCV000497568] Chr9:35060394 [GRCh38]
Chr9:35060391 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_007126.5(VCP):c.1875G>T (p.Arg625=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000639662]|Inborn genetic diseases [RCV002413681]|VCP-related condition [RCV003980105]|not provided [RCV002292570]|not specified [RCV000594187] Chr9:35059622 [GRCh38]
Chr9:35059619 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.1433A>G (p.Asp478Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001860219]|not provided [RCV000595705] Chr9:35060850 [GRCh38]
Chr9:35060847 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1327A>C (p.Asn443His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000639652] Chr9:35061047 [GRCh38]
Chr9:35061044 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1950G>A (p.Glu650=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002232622]|Inborn genetic diseases [RCV002420727] Chr9:35059547 [GRCh38]
Chr9:35059544 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1483-5C>T single nucleotide variant not provided [RCV000594707] Chr9:35060530 [GRCh38]
Chr9:35060527 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1696-7C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002231753] Chr9:35059808 [GRCh38]
Chr9:35059805 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.479C>T (p.Ala160Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002233477] Chr9:35065348 [GRCh38]
Chr9:35065345 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000639654]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [RCV001535609]|not provided [RCV000993545] Chr9:35065349 [GRCh38]
Chr9:35065346 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007126.5(VCP):c.2316-4A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000639664] Chr9:35057226 [GRCh38]
Chr9:35057223 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2352T>G (p.Ser784Arg) single nucleotide variant Inborn genetic diseases [RCV003278107] Chr9:35057186 [GRCh38]
Chr9:35057183 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.811+2_811+3inv inversion Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000539857] Chr9:35062975..35062976 [GRCh38]
Chr9:35062972..35062973 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_007126.5(VCP):c.1360-4C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002232621] Chr9:35060927 [GRCh38]
Chr9:35060924 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.1329C>T (p.Asn443=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002232786]|Inborn genetic diseases [RCV002386046] Chr9:35061045 [GRCh38]
Chr9:35061042 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2161-6C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000639661] Chr9:35057536 [GRCh38]
Chr9:35057533 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_007126.5(VCP):c.860G>T (p.Arg287Leu) single nucleotide variant not provided [RCV000658477] Chr9:35062302 [GRCh38]
Chr9:35062299 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002233165] Chr9:35057141 [GRCh38]
Chr9:35057138 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
NM_007126.5(VCP):c.320A>T (p.Asp107Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002233639] Chr9:35066800 [GRCh38]
Chr9:35066797 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.374G>A (p.Gly125Asp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002233201]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001809749] Chr9:35066746 [GRCh38]
Chr9:35066743 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002233265]|not provided [RCV003140101] Chr9:35059513 [GRCh38]
Chr9:35059510 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1194+3G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000685579]|Inborn genetic diseases [RCV002334250]|VCP-related condition [RCV003938036]|not provided [RCV000733640] Chr9:35061574 [GRCh38]
Chr9:35061571 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1973A>C (p.Lys658Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003768116]|Inborn genetic diseases [RCV003353004]|not provided [RCV000714166] Chr9:35059524 [GRCh38]
Chr9:35059521 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.409C>T (p.Pro137Ser) single nucleotide variant Alzheimer disease [RCV000736269] Chr9:35066711 [GRCh38]
Chr9:35066708 [GRCh37]
Chr9:9p13.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_007126.5(VCP):c.1081+27C>T single nucleotide variant not provided [RCV001584867] Chr9:35061976 [GRCh38]
Chr9:35061973 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.811+96G>A single nucleotide variant not provided [RCV001565508] Chr9:35062882 [GRCh38]
Chr9:35062879 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2005-71G>A single nucleotide variant not provided [RCV001583815] Chr9:35059290 [GRCh38]
Chr9:35059287 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.426G>C (p.Ala142=) single nucleotide variant VCP-related condition [RCV003983255]|not provided [RCV000895281] Chr9:35066694 [GRCh38]
Chr9:35066691 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1194+84G>T single nucleotide variant not provided [RCV001680909] Chr9:35061493 [GRCh38]
Chr9:35061490 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.445+80_445+81dup duplication not provided [RCV001571426] Chr9:35066582..35066583 [GRCh38]
Chr9:35066579..35066580 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1081+154C>G single nucleotide variant not provided [RCV001569665] Chr9:35061849 [GRCh38]
Chr9:35061846 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1482+52T>C single nucleotide variant not provided [RCV001611919] Chr9:35060749 [GRCh38]
Chr9:35060746 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.446-4_446-3delinsAT indel Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001045459] Chr9:35065384..35065385 [GRCh38]
Chr9:35065381..35065382 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*1001C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001165912]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001167476] Chr9:35056116 [GRCh38]
Chr9:35056113 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.*63G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001165971]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001167533] Chr9:35057054 [GRCh38]
Chr9:35057051 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2052A>G (p.Gly684=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000881188] Chr9:35059172 [GRCh38]
Chr9:35059169 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2166A>G (p.Val722=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001422418] Chr9:35057525 [GRCh38]
Chr9:35057522 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1191A>G (p.Glu397=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001469773] Chr9:35061580 [GRCh38]
Chr9:35061577 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1996G>A (p.Val666Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001051610] Chr9:35059501 [GRCh38]
Chr9:35059498 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.648A>G (p.Ile216Met) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001038094]|Lewy body dementia [RCV002463580] Chr9:35064214 [GRCh38]
Chr9:35064211 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_007126.5(VCP):c.982T>C (p.Leu328=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003768823] Chr9:35062102 [GRCh38]
Chr9:35062099 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.372A>G (p.Glu124=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001505470] Chr9:35066748 [GRCh38]
Chr9:35066745 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.18-6T>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001411367] Chr9:35068368 [GRCh38]
Chr9:35068365 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1696-4A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000973833]|VCP-related condition [RCV003962908] Chr9:35059805 [GRCh38]
Chr9:35059802 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.345T>C (p.His115=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001415753] Chr9:35066775 [GRCh38]
Chr9:35066772 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.732C>T (p.Tyr244=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001395321]|not provided [RCV000946065] Chr9:35063057 [GRCh38]
Chr9:35063054 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.1476G>A (p.Leu492=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001496255] Chr9:35060807 [GRCh38]
Chr9:35060804 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.924C>T (p.Ala308=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000946395] Chr9:35062238 [GRCh38]
Chr9:35062235 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1401C>T (p.Thr467=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001407364] Chr9:35060882 [GRCh38]
Chr9:35060879 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1017A>T (p.Ala339=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001493134] Chr9:35062067 [GRCh38]
Chr9:35062064 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2160+8T>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000918877]|not provided [RCV001580009] Chr9:35059056 [GRCh38]
Chr9:35059053 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.628A>C (p.Arg210=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001502771] Chr9:35064234 [GRCh38]
Chr9:35064231 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.624C>T (p.Gly208=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000930336] Chr9:35064238 [GRCh38]
Chr9:35064235 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.519T>C (p.Tyr173=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002066471] Chr9:35065308 [GRCh38]
Chr9:35065305 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_007126.5(VCP):c.1318G>T (p.Glu440Ter) single nucleotide variant VCP-Related Disorders [RCV000779579] Chr9:35061056 [GRCh38]
Chr9:35061053 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2014T>G (p.Leu672Val) single nucleotide variant Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV000801506] Chr9:35059210 [GRCh38]
Chr9:35059207 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.512G>T (p.Ser171Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000793063] Chr9:35065315 [GRCh38]
Chr9:35065312 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
NM_007126.5(VCP):c.1180G>A (p.Val394Met) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002234843] Chr9:35061591 [GRCh38]
Chr9:35061588 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*12C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001167536]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001167537] Chr9:35057105 [GRCh38]
Chr9:35057102 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.572G>C (p.Arg191Pro) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001095426]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003769035] Chr9:35065255 [GRCh38]
Chr9:35065252 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_007126.5(VCP):c.*15C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001167535]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001167534] Chr9:35057102 [GRCh38]
Chr9:35057099 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.697A>G (p.Ile233Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001167607]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001220592]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001167606]|not provided [RCV001664718] Chr9:35064165 [GRCh38]
Chr9:35064162 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1293C>T (p.Asp431=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168927]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168926] Chr9:35061081 [GRCh38]
Chr9:35061078 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.812-7C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001166036]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002068014]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001166037] Chr9:35062357 [GRCh38]
Chr9:35062354 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.130-9T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168985]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168986] Chr9:35068072 [GRCh38]
Chr9:35068069 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.84T>A (p.Val28=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002233819] Chr9:35068296 [GRCh38]
Chr9:35068293 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.41C>T (p.Thr14Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002555974]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001196071]|not provided [RCV003425917]|not specified [RCV001095442] Chr9:35068339 [GRCh38]
Chr9:35068336 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.469G>C (p.Gly157Arg) single nucleotide variant not provided [RCV001091822] Chr9:35065358 [GRCh38]
Chr9:35065355 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.709-4A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001431016] Chr9:35063084 [GRCh38]
Chr9:35063081 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1371C>T (p.Ser457=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001423429] Chr9:35060912 [GRCh38]
Chr9:35060909 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002235557] Chr9:35057425 [GRCh38]
Chr9:35057422 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*217G>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168856]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168855] Chr9:35056900 [GRCh38]
Chr9:35056897 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.523A>G (p.Ile175Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001212543] Chr9:35065304 [GRCh38]
Chr9:35065301 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1864G>T (p.Ala622Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001248579] Chr9:35059633 [GRCh38]
Chr9:35059630 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2Y [RCV002471052]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001237563]|not provided [RCV001760253] Chr9:35061665 [GRCh38]
Chr9:35061662 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.313T>C (p.Cys105Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001234395] Chr9:35066807 [GRCh38]
Chr9:35066804 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2194C>T (p.Arg732Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001224616] Chr9:35057497 [GRCh38]
Chr9:35057494 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2242A>T (p.Ser748Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001210057] Chr9:35057449 [GRCh38]
Chr9:35057446 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.377T>G (p.Ile126Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001212180] Chr9:35066743 [GRCh38]
Chr9:35066740 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_007126.5(VCP):c.888T>C (p.Asn296=) single nucleotide variant not provided [RCV000999153] Chr9:35062274 [GRCh38]
Chr9:35062271 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*885G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001167477]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001167478] Chr9:35056232 [GRCh38]
Chr9:35056229 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*216G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168857]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168858] Chr9:35056901 [GRCh38]
Chr9:35056898 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.812G>A (p.Gly271Asp) single nucleotide variant not provided [RCV003127198] Chr9:35062350 [GRCh38]
Chr9:35062347 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.230G>T (p.Cys77Phe) single nucleotide variant not provided [RCV003231998] Chr9:35067963 [GRCh38]
Chr9:35067960 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.18-4C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002538570]|not provided [RCV001663535] Chr9:35068366 [GRCh38]
Chr9:35068363 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.302+198C>T single nucleotide variant not provided [RCV001590344] Chr9:35067693 [GRCh38]
Chr9:35067690 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.445+92del deletion not provided [RCV001568677] Chr9:35066583 [GRCh38]
Chr9:35066580 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.445+80dup duplication not provided [RCV001673952] Chr9:35066582..35066583 [GRCh38]
Chr9:35066579..35066580 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.2161-241C>T single nucleotide variant not provided [RCV001598799] Chr9:35057771 [GRCh38]
Chr9:35057768 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.2160+297T>G single nucleotide variant not provided [RCV001561815] Chr9:35058767 [GRCh38]
Chr9:35058764 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1695+210G>A single nucleotide variant not provided [RCV001693822] Chr9:35060103 [GRCh38]
Chr9:35060100 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.577-266T>C single nucleotide variant not provided [RCV001563047] Chr9:35064551 [GRCh38]
Chr9:35064548 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.445+217G>T single nucleotide variant not provided [RCV001614668] Chr9:35066458 [GRCh38]
Chr9:35066455 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.812-266T>C single nucleotide variant not provided [RCV001694591] Chr9:35062616 [GRCh38]
Chr9:35062613 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.811+97C>T single nucleotide variant not provided [RCV001552901] Chr9:35062881 [GRCh38]
Chr9:35062878 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1887T>C (p.Ile629=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000908412] Chr9:35059610 [GRCh38]
Chr9:35059607 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1081+8C>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002065603] Chr9:35061995 [GRCh38]
Chr9:35061992 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.390C>G (p.Leu130=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001496783] Chr9:35066730 [GRCh38]
Chr9:35066727 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.618T>C (p.Ile206=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001498468] Chr9:35064244 [GRCh38]
Chr9:35064241 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.832T>C (p.Leu278=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV000876711]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001166034]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001166035]|not specified [RCV001664521] Chr9:35062330 [GRCh38]
Chr9:35062327 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.2345G>C (p.Gly782Ala) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001035947]|not provided [RCV003141942] Chr9:35057193 [GRCh38]
Chr9:35057190 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1349A>T (p.Asp450Val) single nucleotide variant VCP-related multisystem proteinopathy [RCV001095775] Chr9:35061025 [GRCh38]
Chr9:35061022 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2132G>A (p.Arg711Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001241484]|Inborn genetic diseases [RCV002418829] Chr9:35059092 [GRCh38]
Chr9:35059089 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1847dup (p.Asn616fs) duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002065572]|Inborn genetic diseases [RCV002409141] Chr9:35059649..35059650 [GRCh38]
Chr9:35059646..35059647 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.511A>C (p.Ser171Arg) single nucleotide variant not provided [RCV001541190] Chr9:35065316 [GRCh38]
Chr9:35065313 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
NM_007126.5(VCP):c.1695+167del deletion not provided [RCV001566488] Chr9:35060146 [GRCh38]
Chr9:35060143 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_007126.5(VCP):c.302+287A>G single nucleotide variant not provided [RCV001716368] Chr9:35067604 [GRCh38]
Chr9:35067601 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.2160+293_2160+294insG insertion not provided [RCV001720546] Chr9:35058770..35058771 [GRCh38]
Chr9:35058767..35058768 [GRCh37]
Chr9:9p13.3		 benign
GRCh37/hg19 9p13.3(chr9:34699039-35060746)x3 copy number gain not provided [RCV001006237] Chr9:34699039..35060746 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2160+222A>G single nucleotide variant not provided [RCV001657545] Chr9:35058842 [GRCh38]
Chr9:35058839 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.446-17A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002077140]|not provided [RCV001700898] Chr9:35065398 [GRCh38]
Chr9:35065395 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1695+181_1695+182del deletion not provided [RCV001594608] Chr9:35060131..35060132 [GRCh38]
Chr9:35060128..35060129 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.794T>C (p.Phe265Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001167605]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001167604] Chr9:35062995 [GRCh38]
Chr9:35062992 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.591C>G (p.Ser197=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168235]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168234] Chr9:35064271 [GRCh38]
Chr9:35064268 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.384T>C (p.Gly128=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168238]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002067829]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168239]|VCP-related condition [RCV003945895] Chr9:35066736 [GRCh38]
Chr9:35066733 [GRCh37]
Chr9:9p13.3		 benign|likely benign|uncertain significance
NM_007126.5(VCP):c.1696-223G>T single nucleotide variant not provided [RCV001680730] Chr9:35060024 [GRCh38]
Chr9:35060021 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.995T>C (p.Met332Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001050288] Chr9:35062089 [GRCh38]
Chr9:35062086 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2160+272del deletion not provided [RCV001684988] Chr9:35058792 [GRCh38]
Chr9:35058789 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.18-281T>A single nucleotide variant not provided [RCV001609232] Chr9:35068643 [GRCh38]
Chr9:35068640 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.129+35G>A single nucleotide variant not provided [RCV001613726] Chr9:35068216 [GRCh38]
Chr9:35068213 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.767G>A (p.Arg256Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001217063] Chr9:35063022 [GRCh38]
Chr9:35063019 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1324A>G (p.Met442Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001234713] Chr9:35061050 [GRCh38]
Chr9:35061047 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.30T>A (p.Asp10Glu) single nucleotide variant Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001198195] Chr9:35068350 [GRCh38]
Chr9:35068347 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*367G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168092]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168854] Chr9:35056750 [GRCh38]
Chr9:35056747 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.453T>G (p.Ile151Met) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001212890] Chr9:35065374 [GRCh38]
Chr9:35065371 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.446-4G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168237]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001873558]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168236] Chr9:35065385 [GRCh38]
Chr9:35065382 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.2228C>T (p.Ala743Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001039023] Chr9:35057463 [GRCh38]
Chr9:35057460 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001168241]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003769818]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001168240] Chr9:35066785 [GRCh38]
Chr9:35066782 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.*1040T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001165910]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001165911]|not provided [RCV002264211] Chr9:35056077 [GRCh38]
Chr9:35056074 [GRCh37]
Chr9:9p13.3		 benign|likely benign|uncertain significance
NM_007126.5(VCP):c.294T>A (p.Asp98Glu) single nucleotide variant Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV001253196] Chr9:35067899 [GRCh38]
Chr9:35067896 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.1712C>T (p.Pro571Leu) single nucleotide variant not provided [RCV002284867] Chr9:35059785 [GRCh38]
Chr9:35059782 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.460G>T (p.Val154Phe) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001312665] Chr9:35065367 [GRCh38]
Chr9:35065364 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.475C>A (p.Arg159Ser) single nucleotide variant Amyotrophic lateral sclerosis type 6 [RCV001271083] Chr9:35065352 [GRCh38]
Chr9:35065349 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NM_007126.5(VCP):c.265C>T (p.Arg89Trp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001308126] Chr9:35067928 [GRCh38]
Chr9:35067925 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1318G>A (p.Glu440Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001343566] Chr9:35061056 [GRCh38]
Chr9:35061053 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.237T>A (p.Asp79Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001313680]|not provided [RCV003222301] Chr9:35067956 [GRCh38]
Chr9:35067953 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1153A>G (p.Thr385Ala) single nucleotide variant not provided [RCV001311774] Chr9:35061618 [GRCh38]
Chr9:35061615 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.130-3C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001349905] Chr9:35068066 [GRCh38]
Chr9:35068063 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.664C>T (p.Leu222=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001392438] Chr9:35064198 [GRCh38]
Chr9:35064195 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.512G>A (p.Ser171Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001361941] Chr9:35065315 [GRCh38]
Chr9:35065312 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.401A>G (p.Tyr134Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001296826]|Inborn genetic diseases [RCV002357086]|not provided [RCV003135925] Chr9:35066719 [GRCh38]
Chr9:35066716 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458994)_(35072710_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV001374141]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001346193] Chr9:34458994..35072710 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.331G>A (p.Gly111Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001347828] Chr9:35066789 [GRCh38]
Chr9:35066786 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2126G>A (p.Arg709Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001343252] Chr9:35059098 [GRCh38]
Chr9:35059095 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1144C>G (p.Gln382Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001322715]|not provided [RCV003135972] Chr9:35061627 [GRCh38]
Chr9:35061624 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2345G>T (p.Gly782Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001367667]|not provided [RCV003318686] Chr9:35057193 [GRCh38]
Chr9:35057190 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.234T>C (p.Ser78=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003770634]|not provided [RCV001311775] Chr9:35067959 [GRCh38]
Chr9:35067956 [GRCh37]
Chr9:9p13.3		 likely benign
NC_000009.11:g.(?_35072710)_(35079521_?)dup duplication Fanconi anemia [RCV001324794] Chr9:35072710..35079521 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.94A>G (p.Ile32Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001319074] Chr9:35068286 [GRCh38]
Chr9:35068283 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.577-2A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001341264] Chr9:35064287 [GRCh38]
Chr9:35064284 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1839A>C (p.Thr613=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001412878] Chr9:35059658 [GRCh38]
Chr9:35059655 [GRCh37]
Chr9:9p13.3		 likely benign
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.1437C>T (p.Ile479=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001494783] Chr9:35060846 [GRCh38]
Chr9:35060843 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.268A>G (p.Asn90Asp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001325031] Chr9:35067925 [GRCh38]
Chr9:35067922 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1407A>G (p.Val469=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001515901] Chr9:35060876 [GRCh38]
Chr9:35060873 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.349C>T (p.Leu117=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001458866] Chr9:35066771 [GRCh38]
Chr9:35066768 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2193C>T (p.Ile731=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001520804] Chr9:35057498 [GRCh38]
Chr9:35057495 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.465T>G (p.Arg155=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001517278] Chr9:35065362 [GRCh38]
Chr9:35065359 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.2223C>T (p.Arg741=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001456473] Chr9:35057468 [GRCh38]
Chr9:35057465 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.120C>T (p.Ser40=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001410057] Chr9:35068260 [GRCh38]
Chr9:35068257 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1474C>T (p.Leu492=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001423300] Chr9:35060809 [GRCh38]
Chr9:35060806 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2109C>T (p.Ile703=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001417459]|not provided [RCV001579543] Chr9:35059115 [GRCh38]
Chr9:35059112 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.210C>T (p.Ile70=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001408207] Chr9:35067983 [GRCh38]
Chr9:35067980 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1611C>G (p.Ala537=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001408717] Chr9:35060397 [GRCh38]
Chr9:35060394 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2316-8G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001431897] Chr9:35057230 [GRCh38]
Chr9:35057227 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.975A>G (p.Val325=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001468641]|not provided [RCV003426124] Chr9:35062109 [GRCh38]
Chr9:35062106 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1081+8C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001465574] Chr9:35061995 [GRCh38]
Chr9:35061992 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1194+71A>G single nucleotide variant not provided [RCV001675520] Chr9:35061506 [GRCh38]
Chr9:35061503 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.804G>A (p.Leu268=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001506907] Chr9:35062985 [GRCh38]
Chr9:35062982 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2161-5T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001451790] Chr9:35057535 [GRCh38]
Chr9:35057532 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.147G>A (p.Leu49=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001489347] Chr9:35068046 [GRCh38]
Chr9:35068043 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1696-5dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001489492] Chr9:35059805..35059806 [GRCh38]
Chr9:35059802..35059803 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1360-9C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001478363] Chr9:35060932 [GRCh38]
Chr9:35060929 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.711T>G (p.Pro237=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001454230] Chr9:35063078 [GRCh38]
Chr9:35063075 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.675A>G (p.Arg225=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001436016] Chr9:35064187 [GRCh38]
Chr9:35064184 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2229G>A (p.Ala743=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001516356] Chr9:35057462 [GRCh38]
Chr9:35057459 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.1776T>C (p.Asp592=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001431388] Chr9:35059721 [GRCh38]
Chr9:35059718 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.897C>G (p.Ala299=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001484849] Chr9:35062265 [GRCh38]
Chr9:35062262 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.54A>G (p.Lys18=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001510720]|VCP-related condition [RCV003966062] Chr9:35068326 [GRCh38]
Chr9:35068323 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_007126.5(VCP):c.168A>C (p.Thr56=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001393317] Chr9:35068025 [GRCh38]
Chr9:35068022 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.351G>T (p.Leu117=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001434907] Chr9:35066769 [GRCh38]
Chr9:35066766 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.577-15C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001424295] Chr9:35064300 [GRCh38]
Chr9:35064297 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2197C>A (p.Arg733=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001504164] Chr9:35057494 [GRCh38]
Chr9:35057491 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-5C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001394423]|Inborn genetic diseases [RCV002329415] Chr9:35065386 [GRCh38]
Chr9:35065383 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_007126.5(VCP):c.2173G>A (p.Asp725Asn) single nucleotide variant not provided [RCV001754893] Chr9:35057518 [GRCh38]
Chr9:35057515 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.10G>A (p.Gly4Arg) single nucleotide variant not provided [RCV001754958] Chr9:35072344 [GRCh38]
Chr9:35072341 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
NM_007126.5(VCP):c.709-2A>G single nucleotide variant not provided [RCV001757965] Chr9:35063082 [GRCh38]
Chr9:35063079 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2118G>T (p.Glu706Asp) single nucleotide variant not provided [RCV001763742] Chr9:35059106 [GRCh38]
Chr9:35059103 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2257C>T (p.Arg753Trp) single nucleotide variant not provided [RCV001764763] Chr9:35057434 [GRCh38]
Chr9:35057431 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1709C>T (p.Ala570Val) single nucleotide variant not provided [RCV001765020] Chr9:35059788 [GRCh38]
Chr9:35059785 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.91G>T (p.Ala31Ser) single nucleotide variant Inborn genetic diseases [RCV002449411]|not provided [RCV001768751] Chr9:35068289 [GRCh38]
Chr9:35068286 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.811G>C (p.Gly271Arg) single nucleotide variant not provided [RCV001770660] Chr9:35062978 [GRCh38]
Chr9:35062975 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1357C>T (p.Arg453Trp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001868584]|not provided [RCV001769177] Chr9:35061017 [GRCh38]
Chr9:35061014 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1809G>C (p.Gln603His) single nucleotide variant not provided [RCV001758821] Chr9:35059688 [GRCh38]
Chr9:35059685 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1460G>A (p.Arg487His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003772278]|not provided [RCV001816505] Chr9:35060823 [GRCh38]
Chr9:35060820 [GRCh37]
Chr9:9p13.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.265del (p.Arg89fs) deletion not provided [RCV001804206] Chr9:35067928 [GRCh38]
Chr9:35067925 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1294C>G (p.Leu432Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001949771] Chr9:35061080 [GRCh38]
Chr9:35061077 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1482+4G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002045813]|not provided [RCV003138045] Chr9:35060797 [GRCh38]
Chr9:35060794 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.310C>T (p.Pro104Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001863821] Chr9:35066810 [GRCh38]
Chr9:35066807 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1790C>T (p.Ala597Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001948610] Chr9:35059707 [GRCh38]
Chr9:35059704 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_007126.5(VCP):c.451A>G (p.Ile151Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001890377]|Inborn genetic diseases [RCV003355609] Chr9:35065376 [GRCh38]
Chr9:35065373 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NM_007126.5(VCP):c.367G>A (p.Val123Met) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001891465] Chr9:35066753 [GRCh38]
Chr9:35066750 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1837A>G (p.Thr613Ala) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002040767] Chr9:35059660 [GRCh38]
Chr9:35059657 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2233C>T (p.Arg745Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002039309] Chr9:35057458 [GRCh38]
Chr9:35057455 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.233C>G (p.Ser78Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001927107] Chr9:35067960 [GRCh38]
Chr9:35067957 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.463C>A (p.Arg155Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001949225] Chr9:35065364 [GRCh38]
Chr9:35065361 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.1162A>G (p.Met388Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001927729] Chr9:35061609 [GRCh38]
Chr9:35061606 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1521C>T (p.Gly507=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001965932] Chr9:35060487 [GRCh38]
Chr9:35060484 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_007126.5(VCP):c.273C>G (p.Asn91Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001908873] Chr9:35067920 [GRCh38]
Chr9:35067917 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.469G>A (p.Gly157Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001972632] Chr9:35065358 [GRCh38]
Chr9:35065355 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.73C>T (p.Arg25Trp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001962627]|not provided [RCV003136340] Chr9:35068307 [GRCh38]
Chr9:35068304 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1186C>G (p.Leu396Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002046718]|not provided [RCV003136195] Chr9:35061585 [GRCh38]
Chr9:35061582 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1402G>A (p.Val468Met) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001991096] Chr9:35060881 [GRCh38]
Chr9:35060878 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1202A>T (p.Asn401Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001992255] Chr9:35061172 [GRCh38]
Chr9:35061169 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.62A>G (p.Asn21Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001900926] Chr9:35068318 [GRCh38]
Chr9:35068315 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1993C>T (p.Pro665Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001995288] Chr9:35059504 [GRCh38]
Chr9:35059501 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.810T>C (p.Asn270=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002011084] Chr9:35062979 [GRCh38]
Chr9:35062976 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.472A>G (p.Met158Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001953725] Chr9:35065355 [GRCh38]
Chr9:35065352 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.1696-34_1716dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002048865] Chr9:35059780..35059781 [GRCh38]
Chr9:35059777..35059778 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1985G>A (p.Arg662His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001917549]|Inborn genetic diseases [RCV003375409] Chr9:35059512 [GRCh38]
Chr9:35059509 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.273C>A (p.Asn91Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002015462] Chr9:35067920 [GRCh38]
Chr9:35067917 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
NM_007126.5(VCP):c.284G>A (p.Arg95His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002018336] Chr9:35067909 [GRCh38]
Chr9:35067906 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.1265C>G (p.Ala422Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001990570] Chr9:35061109 [GRCh38]
Chr9:35061106 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1459C>T (p.Arg487Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001907289]|VCP-related condition [RCV003394299] Chr9:35060824 [GRCh38]
Chr9:35060821 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.82G>A (p.Val28Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001933553] Chr9:35068298 [GRCh38]
Chr9:35068295 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1211A>C (p.His404Pro) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001884072]|not provided [RCV003136256] Chr9:35061163 [GRCh38]
Chr9:35061160 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.946-8T>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002013183] Chr9:35062146 [GRCh38]
Chr9:35062143 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.1768A>G (p.Ile590Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001864719] Chr9:35059729 [GRCh38]
Chr9:35059726 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1283A>T (p.Asp428Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001976035] Chr9:35061091 [GRCh38]
Chr9:35061088 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.811+5G>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001918858] Chr9:35062973 [GRCh38]
Chr9:35062970 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.677A>T (p.His226Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001881889] Chr9:35064185 [GRCh38]
Chr9:35064182 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.365C>T (p.Thr122Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001904683] Chr9:35066755 [GRCh38]
Chr9:35066752 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.129+12C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002209019] Chr9:35068239 [GRCh38]
Chr9:35068236 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.192A>G (p.Arg64=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002075730] Chr9:35068001 [GRCh38]
Chr9:35067998 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-15T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002086071] Chr9:35065396 [GRCh38]
Chr9:35065393 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.129+11G>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002209596] Chr9:35068240 [GRCh38]
Chr9:35068237 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1359+15C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002147290] Chr9:35061000 [GRCh38]
Chr9:35060997 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1317C>T (p.Ala439=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002186411] Chr9:35061057 [GRCh38]
Chr9:35061054 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2175T>C (p.Asp725=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002110744] Chr9:35057516 [GRCh38]
Chr9:35057513 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1494G>A (p.Glu498=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002126463] Chr9:35060514 [GRCh38]
Chr9:35060511 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.302+2TG[3] microsatellite Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002205404] Chr9:35067882..35067883 [GRCh38]
Chr9:35067879..35067880 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.577-10C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002108472] Chr9:35064295 [GRCh38]
Chr9:35064292 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.418C>T (p.Leu140=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002112180] Chr9:35066702 [GRCh38]
Chr9:35066699 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.708+14G>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002186749] Chr9:35064140 [GRCh38]
Chr9:35064137 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-16C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002209385] Chr9:35065397 [GRCh38]
Chr9:35065394 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.702T>C (p.Gly234=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002164984] Chr9:35064160 [GRCh38]
Chr9:35064157 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.738T>A (p.Pro246=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002127735] Chr9:35063051 [GRCh38]
Chr9:35063048 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1695+11A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002209716] Chr9:35060302 [GRCh38]
Chr9:35060299 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.129+16A>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002164852] Chr9:35068235 [GRCh38]
Chr9:35068232 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1617C>T (p.Phe539=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002166313] Chr9:35060391 [GRCh38]
Chr9:35060388 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1569G>A (p.Gly523=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002110057] Chr9:35060439 [GRCh38]
Chr9:35060436 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.312A>G (p.Pro104=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002172739] Chr9:35066808 [GRCh38]
Chr9:35066805 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.330C>T (p.Tyr110=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002205545]|VCP-related condition [RCV003911289] Chr9:35066790 [GRCh38]
Chr9:35066787 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.946-15A>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002080776] Chr9:35062153 [GRCh38]
Chr9:35062150 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.792C>T (p.Ala264=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002170813] Chr9:35062997 [GRCh38]
Chr9:35062994 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1482+9A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002093858] Chr9:35060792 [GRCh38]
Chr9:35060789 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.708+19G>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002150804] Chr9:35064135 [GRCh38]
Chr9:35064132 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2161-4A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002092372]|Inborn genetic diseases [RCV002427525] Chr9:35057534 [GRCh38]
Chr9:35057531 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.577-9C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002173197] Chr9:35064294 [GRCh38]
Chr9:35064291 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.577-15C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002212904] Chr9:35064300 [GRCh38]
Chr9:35064297 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1483-20C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002116967] Chr9:35060545 [GRCh38]
Chr9:35060542 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.946-12del deletion Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002150036] Chr9:35062150 [GRCh38]
Chr9:35062147 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1696-15C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002104525] Chr9:35059816 [GRCh38]
Chr9:35059813 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1512G>A (p.Leu504=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002134446] Chr9:35060496 [GRCh38]
Chr9:35060493 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.45C>T (p.Ala15=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002108251] Chr9:35068335 [GRCh38]
Chr9:35068332 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.670C>T (p.Leu224=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002094207] Chr9:35064192 [GRCh38]
Chr9:35064189 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1182G>A (p.Val394=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002151899] Chr9:35061589 [GRCh38]
Chr9:35061586 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-11T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002194401] Chr9:35065392 [GRCh38]
Chr9:35065389 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.87T>C (p.Asp29=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002092302] Chr9:35068293 [GRCh38]
Chr9:35068290 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1696-8T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002096398] Chr9:35059809 [GRCh38]
Chr9:35059806 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2028T>C (p.Ala676=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002113352] Chr9:35059196 [GRCh38]
Chr9:35059193 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1332T>C (p.Ser444=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002197875] Chr9:35061042 [GRCh38]
Chr9:35061039 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1944T>C (p.Pro648=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002201391] Chr9:35059553 [GRCh38]
Chr9:35059550 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1483-14C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002117749] Chr9:35060539 [GRCh38]
Chr9:35060536 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2160+14C>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002082149] Chr9:35059050 [GRCh38]
Chr9:35059047 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-7C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002143448] Chr9:35065388 [GRCh38]
Chr9:35065385 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1566T>C (p.Cys522=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002220112] Chr9:35060442 [GRCh38]
Chr9:35060439 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-11T>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002159661] Chr9:35065392 [GRCh38]
Chr9:35065389 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1482+18A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002154795] Chr9:35060783 [GRCh38]
Chr9:35060780 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.946-17dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002162392] Chr9:35062154..35062155 [GRCh38]
Chr9:35062151..35062152 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.302+12G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002218047] Chr9:35067879 [GRCh38]
Chr9:35067876 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.531T>A (p.Ala177=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002154306] Chr9:35065296 [GRCh38]
Chr9:35065293 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.366A>G (p.Thr122=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002177807] Chr9:35066754 [GRCh38]
Chr9:35066751 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.303-21_303-19del deletion Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002118321] Chr9:35066836..35066838 [GRCh38]
Chr9:35066833..35066835 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2315+8G>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002158655] Chr9:35057368 [GRCh38]
Chr9:35057365 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.15C>T (p.Ala5=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002184012] Chr9:35072339 [GRCh38]
Chr9:35072336 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1360-12C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002082531] Chr9:35060935 [GRCh38]
Chr9:35060932 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1360-5T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002102823] Chr9:35060928 [GRCh38]
Chr9:35060925 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1081+9T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002144669] Chr9:35061994 [GRCh38]
Chr9:35061991 [GRCh37]
Chr9:9p13.3		 likely benign
NC_000009.11:g.(?_32453279)_(35068379_?)dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109611] Chr9:32453279..35068379 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1695+18G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003112706] Chr9:35060295 [GRCh38]
Chr9:35060292 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1081+17C>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003112917] Chr9:35061986 [GRCh38]
Chr9:35061983 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.811+13G>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003118637] Chr9:35062965 [GRCh38]
Chr9:35062962 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1137G>A (p.Glu379=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003122067] Chr9:35061634 [GRCh38]
Chr9:35061631 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_007126.5(VCP):c.1359G>A (p.Arg453=) single nucleotide variant not provided [RCV002291929] Chr9:35061015 [GRCh38]
Chr9:35061012 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.146T>C (p.Leu49Ser) single nucleotide variant not provided [RCV003231999] Chr9:35068047 [GRCh38]
Chr9:35068044 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.338G>A (p.Arg113His) single nucleotide variant not provided [RCV002283218] Chr9:35066782 [GRCh38]
Chr9:35066779 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_007126.5(VCP):c.812-6T>G single nucleotide variant Inborn genetic diseases [RCV002421307] Chr9:35062356 [GRCh38]
Chr9:35062353 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.961G>A (p.Glu321Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2Y [RCV003148399] Chr9:35062123 [GRCh38]
Chr9:35062120 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1198G>T (p.Ala400Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002299384] Chr9:35061176 [GRCh38]
Chr9:35061173 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1972A>G (p.Lys658Glu) single nucleotide variant Inborn genetic diseases [RCV002423516] Chr9:35059525 [GRCh38]
Chr9:35059522 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.380C>T (p.Thr127Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002304637] Chr9:35066740 [GRCh38]
Chr9:35066737 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.298A>G (p.Ile100Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002296567] Chr9:35067895 [GRCh38]
Chr9:35067892 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1708G>T (p.Ala570Ser) single nucleotide variant Inborn genetic diseases [RCV002398837] Chr9:35059789 [GRCh38]
Chr9:35059786 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.760A>T (p.Ile254Phe) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002301822] Chr9:35063029 [GRCh38]
Chr9:35063026 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1457A>T (p.Lys486Ile) single nucleotide variant Inborn genetic diseases [RCV002394729] Chr9:35060826 [GRCh38]
Chr9:35060823 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2110G>A (p.Glu704Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002296134] Chr9:35059114 [GRCh38]
Chr9:35059111 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2222G>A (p.Arg741His) single nucleotide variant Inborn genetic diseases [RCV002428099] Chr9:35057469 [GRCh38]
Chr9:35057466 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1847del (p.Asn616fs) deletion Inborn genetic diseases [RCV002412949] Chr9:35059650 [GRCh38]
Chr9:35059647 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.407A>C (p.Lys136Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002299369] Chr9:35066713 [GRCh38]
Chr9:35066710 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2254A>G (p.Ile752Val) single nucleotide variant Inborn genetic diseases [RCV002443596] Chr9:35057437 [GRCh38]
Chr9:35057434 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1160A>G (p.Asn387Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003775778]|Inborn genetic diseases [RCV002357701]|not provided [RCV003320884] Chr9:35061611 [GRCh38]
Chr9:35061608 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1299G>A (p.Glu433=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002858146] Chr9:35061075 [GRCh38]
Chr9:35061072 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.393C>T (p.Phe131=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002971744] Chr9:35066727 [GRCh38]
Chr9:35066724 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.946-17A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002617042] Chr9:35062155 [GRCh38]
Chr9:35062152 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.708+16T>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002967704] Chr9:35064138 [GRCh38]
Chr9:35064135 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1256C>G (p.Ala419Gly) single nucleotide variant not provided [RCV002512378] Chr9:35061118 [GRCh38]
Chr9:35061115 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1338A>G (p.Ala446=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002972682] Chr9:35061036 [GRCh38]
Chr9:35061033 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.946-20C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002617045] Chr9:35062158 [GRCh38]
Chr9:35062155 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.636G>C (p.Gln212His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002776601] Chr9:35064226 [GRCh38]
Chr9:35064223 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1107T>C (p.Ile369=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002947727] Chr9:35061664 [GRCh38]
Chr9:35061661 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1623C>T (p.Ser541=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003033869] Chr9:35060385 [GRCh38]
Chr9:35060382 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2143A>G (p.Thr715Ala) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002815993] Chr9:35059081 [GRCh38]
Chr9:35059078 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.584A>G (p.Glu195Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002997055] Chr9:35064278 [GRCh38]
Chr9:35064275 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1397_1402del (p.Glu466_Thr467del) deletion not provided [RCV002461727] Chr9:35060881..35060886 [GRCh38]
Chr9:35060878..35060883 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.60G>T (p.Lys20Asn) single nucleotide variant Inborn genetic diseases [RCV002865098] Chr9:35068320 [GRCh38]
Chr9:35068317 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.18-6T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002755940] Chr9:35068368 [GRCh38]
Chr9:35068365 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1467A>G (p.Leu489=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002590550] Chr9:35060816 [GRCh38]
Chr9:35060813 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.486G>C (p.Glu162Asp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003019916] Chr9:35065341 [GRCh38]
Chr9:35065338 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.945+16A>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002696182] Chr9:35062201 [GRCh38]
Chr9:35062198 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2334G>A (p.Gln778=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003055556] Chr9:35057204 [GRCh38]
Chr9:35057201 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2005-20A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002927915] Chr9:35059239 [GRCh38]
Chr9:35059236 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2381G>A (p.Ser794Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002785969] Chr9:35057157 [GRCh38]
Chr9:35057154 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2134G>C (p.Glu712Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002926813] Chr9:35059090 [GRCh38]
Chr9:35059087 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2005-6T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002590693] Chr9:35059225 [GRCh38]
Chr9:35059222 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-7C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003078047] Chr9:35065388 [GRCh38]
Chr9:35065385 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.375C>T (p.Gly125=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003036880] Chr9:35066745 [GRCh38]
Chr9:35066742 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1482+10C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002886098] Chr9:35060791 [GRCh38]
Chr9:35060788 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2343T>C (p.Ala781=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002705801] Chr9:35057195 [GRCh38]
Chr9:35057192 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1818A>G (p.Thr606=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002690918] Chr9:35059679 [GRCh38]
Chr9:35059676 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.266G>A (p.Arg89Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002927327] Chr9:35067927 [GRCh38]
Chr9:35067924 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1884C>T (p.Ile628=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002780351] Chr9:35059613 [GRCh38]
Chr9:35059610 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.565A>G (p.Ile189Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003100354] Chr9:35065262 [GRCh38]
Chr9:35065259 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1359+8C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002913773] Chr9:35061007 [GRCh38]
Chr9:35061004 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.663A>G (p.Glu221=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002824416] Chr9:35064199 [GRCh38]
Chr9:35064196 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.812-9T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003054964] Chr9:35062359 [GRCh38]
Chr9:35062356 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1058T>C (p.Ile353Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003078630] Chr9:35062026 [GRCh38]
Chr9:35062023 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.522C>T (p.Cys174=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002621297] Chr9:35065305 [GRCh38]
Chr9:35065302 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.445+8C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003053751] Chr9:35066667 [GRCh38]
Chr9:35066664 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.945+11A>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003037196] Chr9:35062206 [GRCh38]
Chr9:35062203 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.466G>A (p.Gly156Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003037322] Chr9:35065361 [GRCh38]
Chr9:35065358 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.1696-11_1696-10insA insertion Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003057553] Chr9:35059811..35059812 [GRCh38]
Chr9:35059808..35059809 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1081+15T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002664037] Chr9:35061988 [GRCh38]
Chr9:35061985 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.811+19C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002932950] Chr9:35062959 [GRCh38]
Chr9:35062956 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.303-5C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003059405] Chr9:35066822 [GRCh38]
Chr9:35066819 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.382G>A (p.Gly128Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002876342] Chr9:35066738 [GRCh38]
Chr9:35066735 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.812-17A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002891035] Chr9:35062367 [GRCh38]
Chr9:35062364 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.411G>C (p.Pro137=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002625273] Chr9:35066709 [GRCh38]
Chr9:35066706 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1416A>G (p.Pro472=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002918045] Chr9:35060867 [GRCh38]
Chr9:35060864 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.18-9_18-8del deletion Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002625308] Chr9:35068370..35068371 [GRCh38]
Chr9:35068367..35068368 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1915C>A (p.Leu639Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003005826] Chr9:35059582 [GRCh38]
Chr9:35059579 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.18-8C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003023815] Chr9:35068370 [GRCh38]
Chr9:35068367 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.606G>A (p.Gly202=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002595516] Chr9:35064256 [GRCh38]
Chr9:35064253 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2244T>C (p.Ser748=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002919181] Chr9:35057447 [GRCh38]
Chr9:35057444 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.302+11G>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002666859] Chr9:35067880 [GRCh38]
Chr9:35067877 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1479C>G (p.Val493=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002786185] Chr9:35060804 [GRCh38]
Chr9:35060801 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2221C>T (p.Arg741Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003085031] Chr9:35057470 [GRCh38]
Chr9:35057467 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.792CTT[3] (p.Phe267del) microsatellite Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002593607] Chr9:35062986..35062988 [GRCh38]
Chr9:35062983..35062985 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.894T>A (p.Pro298=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002932380] Chr9:35062268 [GRCh38]
Chr9:35062265 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.684C>T (p.Ala228=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003083811] Chr9:35064178 [GRCh38]
Chr9:35064175 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1082-8_1082-7insTGTTTGTGTAT insertion Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002626601] Chr9:35061696..35061697 [GRCh38]
Chr9:35061693..35061694 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2036C>T (p.Thr679Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002872751] Chr9:35059188 [GRCh38]
Chr9:35059185 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.355A>G (p.Ile119Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002582023] Chr9:35066765 [GRCh38]
Chr9:35066762 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1587A>G (p.Lys529=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003086835] Chr9:35060421 [GRCh38]
Chr9:35060418 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.400T>C (p.Tyr134His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003064048] Chr9:35066720 [GRCh38]
Chr9:35066717 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.571C>A (p.Arg191=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002922064] Chr9:35065256 [GRCh38]
Chr9:35065253 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.708+20G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003029969] Chr9:35064134 [GRCh38]
Chr9:35064131 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.708+12G>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003088207] Chr9:35064142 [GRCh38]
Chr9:35064139 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.709-18C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002938870] Chr9:35063098 [GRCh38]
Chr9:35063095 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.445+5G>C single nucleotide variant Inborn genetic diseases [RCV002935431] Chr9:35066670 [GRCh38]
Chr9:35066667 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.726G>A (p.Leu242=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002857834] Chr9:35063063 [GRCh38]
Chr9:35063060 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1195-12C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002791814] Chr9:35061191 [GRCh38]
Chr9:35061188 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.756C>T (p.Thr252=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002647180] Chr9:35063033 [GRCh38]
Chr9:35063030 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.34C>T (p.Leu12=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002629747] Chr9:35068346 [GRCh38]
Chr9:35068343 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1050C>G (p.Pro350=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002598599] Chr9:35062034 [GRCh38]
Chr9:35062031 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1359+17T>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002937243] Chr9:35060998 [GRCh38]
Chr9:35060995 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2005-9T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002898552] Chr9:35059228 [GRCh38]
Chr9:35059225 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.729T>G (p.Leu243=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002933690] Chr9:35063060 [GRCh38]
Chr9:35063057 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1310T>C (p.Ile437Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003063918] Chr9:35061064 [GRCh38]
Chr9:35061061 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.194G>A (p.Arg65Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003028220]|not provided [RCV003138441] Chr9:35067999 [GRCh38]
Chr9:35067996 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.840T>C (p.Gly280=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003026512] Chr9:35062322 [GRCh38]
Chr9:35062319 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.302+8T>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002720197] Chr9:35067883 [GRCh38]
Chr9:35067880 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2385A>G (p.Val795=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002857053] Chr9:35057153 [GRCh38]
Chr9:35057150 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.397G>T (p.Val133Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003089263] Chr9:35066723 [GRCh38]
Chr9:35066720 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1179T>C (p.Asp393=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003028058] Chr9:35061592 [GRCh38]
Chr9:35061589 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.130-6C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002602091] Chr9:35068069 [GRCh38]
Chr9:35068066 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2316-11C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002942670] Chr9:35057233 [GRCh38]
Chr9:35057230 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1194+12A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002654655] Chr9:35061565 [GRCh38]
Chr9:35061562 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1194+9A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003067589] Chr9:35061568 [GRCh38]
Chr9:35061565 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.207C>T (p.Cys69=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003070227] Chr9:35067986 [GRCh38]
Chr9:35067983 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.318T>C (p.Pro106=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002725514] Chr9:35066802 [GRCh38]
Chr9:35066799 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1194+8G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002815105] Chr9:35061569 [GRCh38]
Chr9:35061566 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.211G>A (p.Val71Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003066759] Chr9:35067982 [GRCh38]
Chr9:35067979 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1680A>G (p.Arg560=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002676872] Chr9:35060328 [GRCh38]
Chr9:35060325 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2316-5C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002588296] Chr9:35057227 [GRCh38]
Chr9:35057224 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2151A>G (p.Pro717=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002589531] Chr9:35059073 [GRCh38]
Chr9:35059070 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.811+14T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002612285] Chr9:35062964 [GRCh38]
Chr9:35062961 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.807C>T (p.Ile269=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002942207] Chr9:35062982 [GRCh38]
Chr9:35062979 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1896C>G (p.Ala632=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV002607007] Chr9:35059601 [GRCh38]
Chr9:35059598 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.-219TGCCAC[4] microsatellite not provided [RCV003223299] Chr9:35072554..35072555 [GRCh38]
Chr9:35072551..35072552 [GRCh37]
Chr9:9p13.3		 benign
NM_007126.5(VCP):c.1129C>T (p.Arg377Cys) single nucleotide variant not provided [RCV003139265] Chr9:35061642 [GRCh38]
Chr9:35061639 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2118G>C (p.Glu706Asp) single nucleotide variant not provided [RCV003139266] Chr9:35059106 [GRCh38]
Chr9:35059103 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2101G>A (p.Glu701Lys) single nucleotide variant not provided [RCV003139267] Chr9:35059123 [GRCh38]
Chr9:35059120 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.478G>A (p.Ala160Thr) single nucleotide variant not provided [RCV003139268] Chr9:35065349 [GRCh38]
Chr9:35065346 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.392T>C (p.Phe131Ser) single nucleotide variant not provided [RCV003139269] Chr9:35066728 [GRCh38]
Chr9:35066725 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.56A>G (p.Gln19Arg) single nucleotide variant not provided [RCV003139270] Chr9:35068324 [GRCh38]
Chr9:35068321 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.887A>G (p.Asn296Ser) single nucleotide variant not provided [RCV003139271] Chr9:35062275 [GRCh38]
Chr9:35062272 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1433A>T (p.Asp478Val) single nucleotide variant not provided [RCV003139272] Chr9:35060850 [GRCh38]
Chr9:35060847 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.11G>A (p.Gly4Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003778817]|not provided [RCV003139273] Chr9:35072343 [GRCh38]
Chr9:35072340 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.722T>C (p.Ile241Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003778818]|not provided [RCV003139274] Chr9:35063067 [GRCh38]
Chr9:35063064 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1874G>C (p.Arg625Pro) single nucleotide variant Global developmental delay [RCV003153238] Chr9:35059623 [GRCh38]
Chr9:35059620 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_007126.5(VCP):c.816T>G (p.Pro272=) single nucleotide variant not provided [RCV003223298] Chr9:35062346 [GRCh38]
Chr9:35062343 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.-233GCTGCC[5] microsatellite not provided [RCV003223300] Chr9:35072568..35072569 [GRCh38]
Chr9:35072565..35072566 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1550A>G (p.Tyr517Cys) single nucleotide variant not provided [RCV003327882] Chr9:35060458 [GRCh38]
Chr9:35060455 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.892C>T (p.Pro298Ser) single nucleotide variant not provided [RCV003321175] Chr9:35062270 [GRCh38]
Chr9:35062267 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.753G>T (p.Lys251Asn) single nucleotide variant Childhood Onset VCP-related Neurodevelopmental Disorder [RCV003333706] Chr9:35063036 [GRCh38]
Chr9:35063033 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.1622C>A (p.Ser541Tyr) single nucleotide variant Childhood Onset VCP-related Neurodevelopmental Disorder [RCV003333710] Chr9:35060386 [GRCh38]
Chr9:35060383 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.898ATC[1] (p.Ile301del) microsatellite Childhood Onset VCP-related Neurodevelopmental Disorder [RCV003333708] Chr9:35062259..35062261 [GRCh38]
Chr9:35062256..35062258 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.766C>G (p.Arg256Gly) single nucleotide variant Childhood Onset VCP-related Neurodevelopmental Disorder [RCV003333707]|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [RCV003883215] Chr9:35063023 [GRCh38]
Chr9:35063020 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.1084C>T (p.Arg362Cys) single nucleotide variant Childhood Onset VCP-related Neurodevelopmental Disorder [RCV003333709] Chr9:35061687 [GRCh38]
Chr9:35061684 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.685C>T (p.Leu229Phe) single nucleotide variant Childhood Onset VCP-related Neurodevelopmental Disorder [RCV003333705] Chr9:35064177 [GRCh38]
Chr9:35064174 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.742G>A (p.Gly248Arg) single nucleotide variant VCP-Related Disorders [RCV003335918] Chr9:35063047 [GRCh38]
Chr9:35063044 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.1972A>C (p.Lys658Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003792475] Chr9:35059525 [GRCh38]
Chr9:35059522 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.812-19C>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003791360] Chr9:35062369 [GRCh38]
Chr9:35062366 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.166A>G (p.Thr56Ala) single nucleotide variant not provided [RCV003425656] Chr9:35068027 [GRCh38]
Chr9:35068024 [GRCh37]
Chr9:9p13.3		 likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_007126.5(VCP):c.1031T>C (p.Met344Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003791539] Chr9:35062053 [GRCh38]
Chr9:35062050 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2179C>A (p.Pro727Thr) single nucleotide variant not provided [RCV003443797] Chr9:35057512 [GRCh38]
Chr9:35057509 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.124T>C (p.Ser42Pro) single nucleotide variant not provided [RCV003443515] Chr9:35068256 [GRCh38]
Chr9:35068253 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1287C>T (p.Leu429=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003797341] Chr9:35061087 [GRCh38]
Chr9:35061084 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2234G>A (p.Arg745His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003781099] Chr9:35057457 [GRCh38]
Chr9:35057454 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.735A>G (p.Gly245=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003787829] Chr9:35063054 [GRCh38]
Chr9:35063051 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1569G>T (p.Gly523=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003783341] Chr9:35060439 [GRCh38]
Chr9:35060436 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2005-14G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003797586] Chr9:35059233 [GRCh38]
Chr9:35059230 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.666G>A (p.Leu222=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003793640] Chr9:35064196 [GRCh38]
Chr9:35064193 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1359+16G>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003784121] Chr9:35060999 [GRCh38]
Chr9:35060996 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1465C>T (p.Leu489=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003805151] Chr9:35060818 [GRCh38]
Chr9:35060815 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.382G>C (p.Gly128Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003782738] Chr9:35066738 [GRCh38]
Chr9:35066735 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1722A>G (p.Leu574=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003784415] Chr9:35059775 [GRCh38]
Chr9:35059772 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.230G>A (p.Cys77Tyr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003786885] Chr9:35067963 [GRCh38]
Chr9:35067960 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2004+8C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003787693] Chr9:35059485 [GRCh38]
Chr9:35059482 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.17+8_17+9del microsatellite Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003787651] Chr9:35072328..35072329 [GRCh38]
Chr9:35072325..35072326 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.288A>G (p.Leu96=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003794015] Chr9:35067905 [GRCh38]
Chr9:35067902 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.303-4T>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003792601] Chr9:35066821 [GRCh38]
Chr9:35066818 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2370C>T (p.Gly790=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003794651] Chr9:35057168 [GRCh38]
Chr9:35057165 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.9T>C (p.Ser3=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003790056] Chr9:35072345 [GRCh38]
Chr9:35072342 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2373A>G (p.Thr791=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003788807] Chr9:35057165 [GRCh38]
Chr9:35057162 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.709-19_709-18del microsatellite Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003790123] Chr9:35063098..35063099 [GRCh38]
Chr9:35063095..35063096 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.255T>C (p.Asn85=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003805734] Chr9:35067938 [GRCh38]
Chr9:35067935 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1333C>T (p.Leu445=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003789354] Chr9:35061041 [GRCh38]
Chr9:35061038 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.576+14_576+15del deletion Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003795700] Chr9:35065236..35065237 [GRCh38]
Chr9:35065233..35065234 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.399A>G (p.Val133=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003797131] Chr9:35066721 [GRCh38]
Chr9:35066718 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.487T>A (p.Phe163Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003807372] Chr9:35065340 [GRCh38]
Chr9:35065337 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2391A>G (p.Thr797=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003787470] Chr9:35057147 [GRCh38]
Chr9:35057144 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.627C>T (p.Cys209=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003794850] Chr9:35064235 [GRCh38]
Chr9:35064232 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-4G>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003784141] Chr9:35065385 [GRCh38]
Chr9:35065382 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1307C>T (p.Thr436Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003784038] Chr9:35061067 [GRCh38]
Chr9:35061064 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1842A>G (p.Lys614=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003785076] Chr9:35059655 [GRCh38]
Chr9:35059652 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.576+10C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003807156] Chr9:35065241 [GRCh38]
Chr9:35065238 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.367G>C (p.Val123Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003804131] Chr9:35066753 [GRCh38]
Chr9:35066750 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1743G>T (p.Ser581=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003792019] Chr9:35059754 [GRCh38]
Chr9:35059751 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2315+6T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003779480] Chr9:35057370 [GRCh38]
Chr9:35057367 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2298G>A (p.Arg766=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003787091] Chr9:35057393 [GRCh38]
Chr9:35057390 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1699C>T (p.Arg567Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003788586] Chr9:35059798 [GRCh38]
Chr9:35059795 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1696-3C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003782425]|VCP-related condition [RCV003929352] Chr9:35059804 [GRCh38]
Chr9:35059801 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_007126.5(VCP):c.291G>A (p.Gly97=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003780758]|VCP-related condition [RCV003939207] Chr9:35067902 [GRCh38]
Chr9:35067899 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.951T>C (p.His317=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003788858] Chr9:35062133 [GRCh38]
Chr9:35062130 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2367C>T (p.Gly789=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003780824] Chr9:35057171 [GRCh38]
Chr9:35057168 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.722T>G (p.Ile241Ser) single nucleotide variant not provided [RCV003491846] Chr9:35063067 [GRCh38]
Chr9:35063064 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.811+13G>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003791431] Chr9:35062965 [GRCh38]
Chr9:35062962 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1743G>A (p.Ser581=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003780849] Chr9:35059754 [GRCh38]
Chr9:35059751 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1528C>T (p.Pro510Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003790174] Chr9:35060480 [GRCh38]
Chr9:35060477 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2111A>C (p.Glu704Ala) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003780089] Chr9:35059113 [GRCh38]
Chr9:35059110 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.401A>T (p.Tyr134Phe) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003798813] Chr9:35066719 [GRCh38]
Chr9:35066716 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.555A>G (p.Glu185=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003798795] Chr9:35065272 [GRCh38]
Chr9:35065269 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1309A>G (p.Ile437Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003808141] Chr9:35061065 [GRCh38]
Chr9:35061062 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.811+17A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003809424] Chr9:35062961 [GRCh38]
Chr9:35062958 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.605G>A (p.Gly202Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003808287] Chr9:35064257 [GRCh38]
Chr9:35064254 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1731T>C (p.Asp577=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003810521] Chr9:35059766 [GRCh38]
Chr9:35059763 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2205C>T (p.His735=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003812928] Chr9:35057486 [GRCh38]
Chr9:35057483 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.244A>C (p.Ile82Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003798451] Chr9:35067949 [GRCh38]
Chr9:35067946 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.2161-20T>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003808565] Chr9:35057550 [GRCh38]
Chr9:35057547 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1095G>A (p.Arg365=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003799524] Chr9:35061676 [GRCh38]
Chr9:35061673 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1637A>G (p.Glu546Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003813348] Chr9:35060371 [GRCh38]
Chr9:35060368 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.411G>A (p.Pro137=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003815458] Chr9:35066709 [GRCh38]
Chr9:35066706 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2190G>T (p.Glu730Asp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003810239] Chr9:35057501 [GRCh38]
Chr9:35057498 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.672G>C (p.Leu224=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003818023] Chr9:35064190 [GRCh38]
Chr9:35064187 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.811+9T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003798547] Chr9:35062969 [GRCh38]
Chr9:35062966 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.130-20C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003799651] Chr9:35068083 [GRCh38]
Chr9:35068080 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1115C>T (p.Pro372Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003809420] Chr9:35061656 [GRCh38]
Chr9:35061653 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.759G>C (p.Leu253=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003813485] Chr9:35063030 [GRCh38]
Chr9:35063027 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1359+11C>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003812253] Chr9:35061004 [GRCh38]
Chr9:35061001 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.446-19G>T single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003810590] Chr9:35065400 [GRCh38]
Chr9:35065397 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.168A>G (p.Thr56=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003810230] Chr9:35068025 [GRCh38]
Chr9:35068022 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.811+8A>G single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003801204] Chr9:35062970 [GRCh38]
Chr9:35062967 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.1383A>G (p.Pro461=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003798021]|VCP-related condition [RCV003949020] Chr9:35060900 [GRCh38]
Chr9:35060897 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.283C>A (p.Arg95Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003813702] Chr9:35067910 [GRCh38]
Chr9:35067907 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_007126.5(VCP):c.1341T>C (p.Val447=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003808294] Chr9:35061033 [GRCh38]
Chr9:35061030 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2315+10T>C single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003802926] Chr9:35057366 [GRCh38]
Chr9:35057363 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2420A>G (p.Ter807=) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003802594] Chr9:35057118 [GRCh38]
Chr9:35057115 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.467G>T (p.Gly156Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003803471] Chr9:35065360 [GRCh38]
Chr9:35065357 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_007126.5(VCP):c.1359+10A>C single nucleotide variant VCP-related condition [RCV003944531] Chr9:35061005 [GRCh38]
Chr9:35061002 [GRCh37]
Chr9:9p13.3		 likely benign
NM_007126.5(VCP):c.2148C>T (p.Asn716=) single nucleotide variant VCP-related condition [RCV003896610] Chr9:35059076 [GRCh38]
Chr9:35059073 [GRCh37]
Chr9:9p13.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR129-1hsa-miR-129-5pOncomiRDBexternal_infoNANA22536440
MIR129-2hsa-miR-129-5pOncomiRDBexternal_infoNANA22536440

Predicted Target Of
Summary Value
Count of predictions:1919
Count of miRNA genes:895
Interacting mature miRNAs:1091
Transcripts:ENST00000358901, ENST00000417448, ENST00000448530, ENST00000466100, ENST00000479300, ENST00000480327, ENST00000493886
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D9S1791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37936,393,383 - 36,393,557UniSTSGRCh37
Build 36936,383,383 - 36,383,557RGDNCBI36
Celera936,326,666 - 36,326,840RGD
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p13UniSTS
HuRef936,346,058 - 36,346,232UniSTS
Marshfield Genetic Map959.34UniSTS
Marshfield Genetic Map959.34RGD
Genethon Genetic Map957.9UniSTS
deCODE Assembly Map957.8UniSTS
Whitehead-YAC Contig Map9 UniSTS
A002I21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,073,935 - 35,074,123UniSTSGRCh37
Build 36935,063,935 - 35,064,123RGDNCBI36
Celera935,005,902 - 35,006,090RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,029,523 - 35,029,711UniSTS
GeneMap99-GB4 RH Map9155.94UniSTS
Whitehead-RH Map9146.8UniSTS
RH102684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,056,221 - 35,056,341UniSTSGRCh37
Build 36935,046,221 - 35,046,341RGDNCBI36
Celera934,988,197 - 34,988,317RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,011,807 - 35,011,927UniSTS
GeneMap99-GB4 RH Map9137.45UniSTS
RH15902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,073,967 - 35,074,120UniSTSGRCh37
Build 36935,063,967 - 35,064,120RGDNCBI36
Celera935,005,934 - 35,006,087RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,029,555 - 35,029,708UniSTS
GeneMap99-GB4 RH Map9137.45UniSTS
NCBI RH Map9447.9UniSTS
STS-R69121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,056,548 - 35,056,703UniSTSGRCh37
Build 36935,046,548 - 35,046,703RGDNCBI36
Celera934,988,524 - 34,988,679RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,012,134 - 35,012,289UniSTS
GeneMap99-GB4 RH Map9137.88UniSTS
NCBI RH Map9448.4UniSTS
RH11835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,056,706 - 35,056,858UniSTSGRCh37
Build 36935,046,706 - 35,046,858RGDNCBI36
Celera934,988,682 - 34,988,834RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,012,292 - 35,012,444UniSTS
GeneMap99-GB4 RH Map9153.95UniSTS
WI-13566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,059,668 - 35,059,771UniSTSGRCh37
Build 36935,049,668 - 35,049,771RGDNCBI36
Celera934,991,644 - 34,991,747RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,015,254 - 35,015,357UniSTS
GeneMap99-GB4 RH Map9137.77UniSTS
Whitehead-RH Map9145.1UniSTS
FANCG_2802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,073,731 - 35,074,254UniSTSGRCh37
Build 36935,063,731 - 35,064,254RGDNCBI36
Celera935,005,698 - 35,006,221RGD
HuRef935,029,319 - 35,029,842UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 7 2
Medium 2439 2969 1725 623 1938 464 4357 2187 3713 418 1453 1613 173 1 1204 2788 6 2
Low 22 1 1 13 1 10 21 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI343015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC122550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU689324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ871270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA880782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB524539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z70768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358901   ⟹   ENSP00000351777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,064 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000417448   ⟹   ENSP00000399456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,588 - 35,072,205 (-)Ensembl
RefSeq Acc Id: ENST00000448530   ⟹   ENSP00000392088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,064 - 35,072,668 (-)Ensembl
RefSeq Acc Id: ENST00000466100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,057,173 - 35,057,833 (-)Ensembl
RefSeq Acc Id: ENST00000479300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,907 - 35,060,024 (-)Ensembl
RefSeq Acc Id: ENST00000480327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,059,748 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000493886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,870 - 35,072,549 (-)Ensembl
RefSeq Acc Id: ENST00000676836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,684 - 35,072,616 (-)Ensembl
RefSeq Acc Id: ENST00000677257   ⟹   ENSP00000504354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,055,376 - 35,072,601 (-)Ensembl
RefSeq Acc Id: ENST00000678018   ⟹   ENSP00000503811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,055,376 - 35,072,568 (-)Ensembl
RefSeq Acc Id: ENST00000678465   ⟹   ENSP00000504259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,055,376 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000678650   ⟹   ENSP00000503426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,055,376 - 35,072,561 (-)Ensembl
RefSeq Acc Id: ENST00000679204   ⟹   ENSP00000503131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,658 - 35,072,442 (-)Ensembl
RefSeq Acc Id: ENST00000679392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,068,251 - 35,072,635 (-)Ensembl
RefSeq Acc Id: ENST00000679449   ⟹   ENSP00000506658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,067,891 - 35,068,362 (-)Ensembl
RefSeq Acc Id: ENST00000679599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,621 - 35,072,623 (-)Ensembl
RefSeq Acc Id: ENST00000679647   ⟹   ENSP00000506216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,576 - 35,072,645 (-)Ensembl
RefSeq Acc Id: ENST00000679800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,055,376 - 35,072,591 (-)Ensembl
RefSeq Acc Id: ENST00000679862   ⟹   ENSP00000504990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,634 - 35,072,611 (-)Ensembl
RefSeq Acc Id: ENST00000679901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,068,251 - 35,072,561 (-)Ensembl
RefSeq Acc Id: ENST00000679902   ⟹   ENSP00000506338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,053,928 - 35,072,623 (-)Ensembl
RefSeq Acc Id: ENST00000680079   ⟹   ENSP00000506523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,066,675 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000680108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,068,251 - 35,072,635 (-)Ensembl
RefSeq Acc Id: ENST00000680520   ⟹   ENSP00000505308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,062,978 - 35,065,381 (-)Ensembl
RefSeq Acc Id: ENST00000680575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,068,251 - 35,072,635 (-)Ensembl
RefSeq Acc Id: ENST00000680731   ⟹   ENSP00000505497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,064,154 - 35,068,063 (-)Ensembl
RefSeq Acc Id: ENST00000680834   ⟹   ENSP00000506387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,061,015 - 35,065,308 (-)Ensembl
RefSeq Acc Id: ENST00000680900   ⟹   ENSP00000505674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,067,891 - 35,068,362 (-)Ensembl
RefSeq Acc Id: ENST00000680916   ⟹   ENSP00000505769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,596 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000681125   ⟹   ENSP00000505052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,061,015 - 35,062,350 (-)Ensembl
RefSeq Acc Id: ENST00000681335   ⟹   ENSP00000505230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,577 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000681386   ⟹   ENSP00000505509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,067,891 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000681537   ⟹   ENSP00000505847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,064 - 35,057,530 (-)Ensembl
RefSeq Acc Id: ENST00000681562   ⟹   ENSP00000505893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,065,251 - 35,066,817 (-)Ensembl
RefSeq Acc Id: ENST00000681690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,056,652 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000681789   ⟹   ENSP00000505142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,062,978 - 35,065,381 (-)Ensembl
RefSeq Acc Id: NM_001354927   ⟹   NP_001341856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,056,064 - 35,072,625 (-)NCBI
T2T-CHM13v2.0935,075,243 - 35,091,804 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354928   ⟹   NP_001341857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,056,064 - 35,072,625 (-)NCBI
T2T-CHM13v2.0935,075,243 - 35,091,804 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007126   ⟹   NP_009057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,056,064 - 35,072,625 (-)NCBI
GRCh37935,056,065 - 35,072,739 (-)ENTREZGENE
Build 36935,046,560 - 35,062,564 (-)NCBI Archive
HuRef935,011,651 - 35,028,327 (-)ENTREZGENE
CHM1_1935,055,907 - 35,072,605 (-)NCBI
T2T-CHM13v2.0935,075,243 - 35,091,804 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001341856 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341857 (Get FASTA)   NCBI Sequence Viewer  
  NP_009057 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC07984 (Get FASTA)   NCBI Sequence Viewer  
  AAD43016 (Get FASTA)   NCBI Sequence Viewer  
  AAG29873 (Get FASTA)   NCBI Sequence Viewer  
  AAG29874 (Get FASTA)   NCBI Sequence Viewer  
  AAH07562 (Get FASTA)   NCBI Sequence Viewer  
  AAI10914 (Get FASTA)   NCBI Sequence Viewer  
  AAI21795 (Get FASTA)   NCBI Sequence Viewer  
  AAI22551 (Get FASTA)   NCBI Sequence Viewer  
  ACI46036 (Get FASTA)   NCBI Sequence Viewer  
  ACI46044 (Get FASTA)   NCBI Sequence Viewer  
  BAG35235 (Get FASTA)   NCBI Sequence Viewer  
  CAA94809 (Get FASTA)   NCBI Sequence Viewer  
  CAB70717 (Get FASTA)   NCBI Sequence Viewer  
  CAH56816 (Get FASTA)   NCBI Sequence Viewer  
  EAW58403 (Get FASTA)   NCBI Sequence Viewer  
  EAW58404 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000351777
  ENSP00000351777.6
  ENSP00000392088
  ENSP00000392088.2
  ENSP00000399456
  ENSP00000399456.2
  ENSP00000503131.2
  ENSP00000503426.1
  ENSP00000503811.1
  ENSP00000504259.1
  ENSP00000504354.1
  ENSP00000504990.1
  ENSP00000505052.1
  ENSP00000505142.1
  ENSP00000505230.1
  ENSP00000505308.1
  ENSP00000505497.1
  ENSP00000505509.1
  ENSP00000505674.1
  ENSP00000505769.1
  ENSP00000505847.1
  ENSP00000505893.1
  ENSP00000506216.1
  ENSP00000506338.1
  ENSP00000506387.1
  ENSP00000506523.1
  ENSP00000506658.1
GenBank Protein P55072 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_009057   ⟸   NM_007126
- Peptide Label: isoform 1
- UniProtKB: Q969G7 (UniProtKB/Swiss-Prot),   Q2TAI5 (UniProtKB/Swiss-Prot),   Q0V924 (UniProtKB/Swiss-Prot),   B2R5T8 (UniProtKB/Swiss-Prot),   Q9UCD5 (UniProtKB/Swiss-Prot),   P55072 (UniProtKB/Swiss-Prot),   V9HW80 (UniProtKB/TrEMBL),   A0A7I2V540 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341856   ⟸   NM_001354927
- Peptide Label: isoform 2
- UniProtKB: C9IZA5 (UniProtKB/TrEMBL),   C9JUP7 (UniProtKB/TrEMBL),   A0A7P0T8A3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341857   ⟸   NM_001354928
- Peptide Label: isoform 2
- UniProtKB: C9IZA5 (UniProtKB/TrEMBL),   C9JUP7 (UniProtKB/TrEMBL),   A0A7P0T8A3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000399456   ⟸   ENST00000417448
RefSeq Acc Id: ENSP00000392088   ⟸   ENST00000448530
RefSeq Acc Id: ENSP00000351777   ⟸   ENST00000358901
RefSeq Acc Id: ENSP00000504354   ⟸   ENST00000677257
RefSeq Acc Id: ENSP00000503811   ⟸   ENST00000678018
RefSeq Acc Id: ENSP00000504259   ⟸   ENST00000678465
RefSeq Acc Id: ENSP00000503426   ⟸   ENST00000678650
RefSeq Acc Id: ENSP00000503131   ⟸   ENST00000679204
RefSeq Acc Id: ENSP00000505509   ⟸   ENST00000681386
RefSeq Acc Id: ENSP00000506338   ⟸   ENST00000679902
RefSeq Acc Id: ENSP00000505052   ⟸   ENST00000681125
RefSeq Acc Id: ENSP00000505893   ⟸   ENST00000681562
RefSeq Acc Id: ENSP00000506523   ⟸   ENST00000680079
RefSeq Acc Id: ENSP00000505769   ⟸   ENST00000680916
RefSeq Acc Id: ENSP00000505308   ⟸   ENST00000680520
RefSeq Acc Id: ENSP00000505847   ⟸   ENST00000681537
RefSeq Acc Id: ENSP00000505142   ⟸   ENST00000681789
RefSeq Acc Id: ENSP00000505497   ⟸   ENST00000680731
RefSeq Acc Id: ENSP00000505674   ⟸   ENST00000680900
RefSeq Acc Id: ENSP00000506387   ⟸   ENST00000680834
RefSeq Acc Id: ENSP00000506216   ⟸   ENST00000679647
RefSeq Acc Id: ENSP00000506658   ⟸   ENST00000679449
RefSeq Acc Id: ENSP00000505230   ⟸   ENST00000681335
RefSeq Acc Id: ENSP00000504990   ⟸   ENST00000679862
Protein Domains
AAA+ ATPase   CDC48   CDC48 N-terminal subdomain   Spastin/Vps4 C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55072-F1-model_v2 AlphaFold P55072 1-806 view protein structure

Promoters
RGD ID:6808407
Promoter ID:HG_KWN:63051
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052291
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,047,386 - 35,048,217 (-)MPROMDB
RGD ID:6808409
Promoter ID:HG_KWN:63052
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052292
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,049,391 - 35,050,867 (-)MPROMDB
RGD ID:6808411
Promoter ID:HG_KWN:63053
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000335213
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,051,516 - 35,052,617 (-)MPROMDB
RGD ID:6808410
Promoter ID:HG_KWN:63054
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052290,   OTTHUMT00000052293,   OTTHUMT00000052295,   UC003ZVZ.2,   UC010MKH.1,   UC010MKI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,061,971 - 35,063,602 (-)MPROMDB
RGD ID:6852220
Promoter ID:EP73916
Type:multiple initiation site
Name:HS_VCP_2
Description:Valosin-containing protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP73915  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,062,538 - 35,062,598EPD
RGD ID:6852218
Promoter ID:EP73915
Type:initiation region
Name:HS_VCP_1
Description:Valosin-containing protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP73916  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,062,608 - 35,062,668EPD
RGD ID:7214965
Promoter ID:EPDNEW_H13229
Type:initiation region
Name:VCP_1
Description:valosin containing protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,072,625 - 35,072,685EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12666 AgrOrtholog
COSMIC VCP COSMIC
Ensembl Genes ENSG00000165280 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358901 ENTREZGENE
  ENST00000358901.11 UniProtKB/Swiss-Prot
  ENST00000417448 ENTREZGENE
  ENST00000417448.2 UniProtKB/TrEMBL
  ENST00000448530 ENTREZGENE
  ENST00000448530.6 UniProtKB/TrEMBL
  ENST00000677257.1 UniProtKB/TrEMBL
  ENST00000678018.1 UniProtKB/TrEMBL
  ENST00000678465.1 UniProtKB/TrEMBL
  ENST00000678650.1 UniProtKB/TrEMBL
  ENST00000679204.2 UniProtKB/TrEMBL
  ENST00000679449.1 UniProtKB/TrEMBL
  ENST00000679647.1 UniProtKB/TrEMBL
  ENST00000679862.1 UniProtKB/TrEMBL
  ENST00000679902.1 UniProtKB/TrEMBL
  ENST00000680079.1 UniProtKB/TrEMBL
  ENST00000680520.1 UniProtKB/TrEMBL
  ENST00000680731.1 UniProtKB/TrEMBL
  ENST00000680834.1 UniProtKB/TrEMBL
  ENST00000680900.1 UniProtKB/TrEMBL
  ENST00000680916.1 UniProtKB/TrEMBL
  ENST00000681125.1 UniProtKB/TrEMBL
  ENST00000681335.1 UniProtKB/TrEMBL
  ENST00000681386.1 UniProtKB/TrEMBL
  ENST00000681537.1 UniProtKB/TrEMBL
  ENST00000681562.1 UniProtKB/TrEMBL
  ENST00000681789.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.8.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.330.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.20.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165280 GTEx
HGNC ID HGNC:12666 ENTREZGENE
Human Proteome Map VCP Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_ATPase_CDC48 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp_de-COase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cdc48_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CDC48_domain_2-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CDC4_N-term_subdom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vps4_C UniProtKB/TrEMBL
KEGG Report hsa:7415 UniProtKB/Swiss-Prot
NCBI Gene 7415 ENTREZGENE
OMIM 601023 OMIM
PANTHER AAA-FAMILY ATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR VALOSIN-CONTAINING PROTEIN-LIKE UniProtKB/TrEMBL
  TRANSITIONAL ENDOPLASMIC RETICULUM ATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CDC48_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CDC48_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vps4_C UniProtKB/TrEMBL
PharmGKB PA37289 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
PROSITE AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CDC48_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CDC48_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50692 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54585 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V2Y2_HUMAN UniProtKB/TrEMBL
  A0A7I2V540 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5G8_HUMAN UniProtKB/TrEMBL
  A0A7I2YQJ0_HUMAN UniProtKB/TrEMBL
  A0A7P0T8A3 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T8D3_HUMAN UniProtKB/TrEMBL
  A0A7P0T8D6_HUMAN UniProtKB/TrEMBL
  A0A7P0T8Q4_HUMAN UniProtKB/TrEMBL
  A0A7P0T8Q5_HUMAN UniProtKB/TrEMBL
  A0A7P0T946_HUMAN UniProtKB/TrEMBL
  A0A7P0T971_HUMAN UniProtKB/TrEMBL
  A0A7P0T9X5_HUMAN UniProtKB/TrEMBL
  A0A7P0TA22_HUMAN UniProtKB/TrEMBL
  A0A7P0TAQ1_HUMAN UniProtKB/TrEMBL
  A0A7P0TAW3_HUMAN UniProtKB/TrEMBL
  A0A7P0TAY0_HUMAN UniProtKB/TrEMBL
  A0A7P0TBF1_HUMAN UniProtKB/TrEMBL
  A0A7P0TBK7_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4C6_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4D1_HUMAN UniProtKB/TrEMBL
  B2R5T8 ENTREZGENE
  C9IZA5 ENTREZGENE
  C9JUP7 ENTREZGENE, UniProtKB/TrEMBL
  P55072 ENTREZGENE
  Q0IIN5_HUMAN UniProtKB/TrEMBL
  Q0V924 ENTREZGENE
  Q2TAI5 ENTREZGENE
  Q969G7 ENTREZGENE
  Q96IF9_HUMAN UniProtKB/TrEMBL
  Q9HAP0_HUMAN UniProtKB/TrEMBL
  Q9HAP1_HUMAN UniProtKB/TrEMBL
  Q9UCD5 ENTREZGENE
  TERA_HUMAN UniProtKB/Swiss-Prot
  V9HW80 ENTREZGENE
UniProt Secondary B2R5T8 UniProtKB/Swiss-Prot
  C9IZA5 UniProtKB/TrEMBL
  Q0V924 UniProtKB/Swiss-Prot
  Q2TAI5 UniProtKB/Swiss-Prot
  Q969G7 UniProtKB/Swiss-Prot
  Q9UCD5 UniProtKB/Swiss-Prot
  V9HW80 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 VCP  valosin containing protein  VCP  valosin-containing protein  Symbol and/or name change 5135510 APPROVED