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Frontotemporal Dementia (D057180)
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Muscular Dystrophies, Limb-Girdle (D049288)
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Myositis, Inclusion Body (D018979)
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Osteitis Deformans (D010001)
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Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)

       Child Nodes:



 Sister Nodes: 
..expandFamilial Paget's disease of bone (C538098)
..expandHyperostosis corticalis deformans juvenilis (C537701)
..expandInclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..expandPaget Disease Of Bone 4 (C565240)
..expandPAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6326
Name:Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Definition:
Alternative IDs:OMIM:167320|OMIM:615422|OMIM:615424
ParentIDs:MESH:D010001|MESH:D018979|MESH:D049288|MESH:D057180
TreeNumbers:C05.116.692/C563476 |C05.651.534.500.280/C563476 |C05.651.594.600/C563476 |C10.228.140.380.266.299/C563476 |C10.574.950.300.299/C563476 |C10.668.491.175.500.149/C563476 |C10.668.491.562.500/C563476 |C16.320.577.280/C563476 |C18.452.845.800.300.299/C563476 |F03.61
Synonyms:IBMPFD |IBMPFD1 |IBMPFD2 |IBMPFD3 |Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and-or Frontotemporal Dementia |INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 |INCLUSION BODY MYOPATHY WITH EAR
Slim Mappings:Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C563476
MeSH: C563476
OMIM: 167320;
MSeqDR LSDB:  
Genes: GLE1; HNRNPA1; HNRNPA2B1; VCP;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002644Abnormality of pelvic girdle bone morphology
3 HP:0007354Amyotrophic lateral sclerosis
4 HP:0003418Back pain
5 HP:0000726Dementia
NAMDC:  Dementia
6 HP:0003551Difficulty climbing stairs
7 HP:0003693Distal amyotrophy
8 HP:0002357Dysphasia
9 HP:0001332Dystonia
NAMDC:  Dystonia
10 HP:0010639Elevated alkaline phosphatase of bone origin
11 HP:0003236Elevated serum creatine phosphokinase
12 HP:0010628Facial palsyHP:0040283
13 HP:0006913Frontal cortical atrophy
14 HP:0002145Frontotemporal dementia
15 HP:0001288Gait disturbance
16 HP:0030838Hip pain
17 HP:0003690Limb muscle weakness
18 HP:0002938Lumbar hyperlordosis
19 HP:0003198Myopathy
NAMDC:  Myopathy
20 HP:0008946Pelvic girdle amyotrophy
21 HP:0008988Pelvic girdle muscle atrophy
22 HP:0003749Pelvic girdle muscle weakness
23 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
24 HP:0003805Rimmed vacuoles
25 HP:0003691Scapular winging
26 HP:0003724Shoulder girdle muscle atrophy
27 HP:0003547Shoulder girdle muscle weakness
28 HP:0007112Temporal cortical atrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_007126.5(VCP):c.*1040T>C7415VCPUncertain significancers188935092RCV001165910|RCV001165911; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505607435056074AG9:g.35056074A>G-
NM_007126.5(VCP):c.*1001C>T7415VCPBenign/Likely benignrs192556285RCV001165912|RCV001167476; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505611335056113GA9:g.35056113G>A-
NM_007126.5(VCP):c.*906A>G7415VCPBenignrs76360394RCV000386372|RCV000330855; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505620835056208TCNC_000009.11:g.35056208T>CClinGen:CA10633596CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*885G>A7415VCPUncertain significancers925146670RCV001167477|RCV001167478; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505622935056229CT9:g.35056229C>T-
NM_007126.5(VCP):c.*788G>A7415VCPUncertain significancers886063887RCV000337724|RCV000282676; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505632635056326CTNC_000009.11:g.35056326C>TClinGen:CA10629968CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*700C>A7415VCPUncertain significancers537730311RCV000373728|RCV000279189; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505641435056414GTNC_000009.11:g.35056414G>TClinGen:CA10633600CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*596C>T7415VCPBenignrs55745923RCV000343505|RCV000401604; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505651835056518GANC_000009.11:g.35056518G>AClinGen:CA10627273CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*438A>G7415VCPBenignrs137953487RCV000303765|RCV000339601; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505667635056676TCNC_000009.11:g.35056676T>CClinGen:CA10627276CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*382C>T7415VCPUncertain significancers749381324RCV000269388|RCV000363922; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505673235056732GANC_000009.11:g.35056732G>AClinGen:CA10627277CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*367G>A7415VCPUncertain significancers768675930RCV001168092|RCV001168854; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505674735056747CT9:g.35056747C>T-
NM_007126.5(VCP):c.*347C>T7415VCPUncertain significancers886063888RCV000369915|RCV000315190; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505676735056767GANC_000009.11:g.35056767G>AClinGen:CA10629978CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*217G>T7415VCPUncertain significancers981870646RCV001168856|RCV001168855; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505689735056897CA9:g.35056897C>A-
NM_007126.5(VCP):c.*216G>A7415VCPUncertain significancers567542622RCV001168858|RCV001168857; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505689835056898CT9:g.35056898C>T-
NM_007126.5(VCP):c.*184G>A7415VCPUncertain significancers886063889RCV000275373|RCV000319333; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505693035056930CTNC_000009.11:g.35056930C>TClinGen:CA10627278CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*172C>G7415VCPUncertain significancers886063890RCV000260516|RCV000373981; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505694235056942GCNC_000009.11:g.35056942G>CClinGen:CA10629987CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*153G>T7415VCPBenignrs1053318RCV000379622|RCV000315799|RCV001675887; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MedGen:CN51720293505696135056961CANC_000009.11:g.35056961C>AClinGen:CA10633601CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*64C>T7415VCPUncertain significancers553370942RCV000340221|RCV000285114; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505705035057050GANC_000009.11:g.35057050G>AClinGen:CA10627279CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.*63G>A7415VCPUncertain significancers969638105RCV001165971|RCV001167533; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505705135057051CT9:g.35057051C>T-
NM_007126.5(VCP):c.*15C>T7415VCPBenign/Likely benignrs762559031RCV001167535|RCV001167534; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505709935057099GA9:g.35057099G>A-
NM_007126.5(VCP):c.*12C>T7415VCPBenign/Likely benignrs62544156RCV001167536|RCV001167537; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505710235057102GA9:g.35057102G>A-
NM_007126.5(VCP):c.*4G>T7415VCPConflicting interpretations of pathogenicityrs201091341RCV000301970|RCV000291446|RCV000376145|RCV001252622|RCV001559813; NMedGen:CN169374|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Huma93505711035057110CA9:g.35057110C>AClinGen:CA5039057CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.2406T>C (p.Asp802=)7415VCPConflicting interpretations of pathogenicityrs145508640RCV000175197|RCV000762559|RCV001085623|RCV001167538|RCV001168166; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C54393505712935057129AG9:g.35057129A>GClinGen:CA240900C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu)7415VCPUncertain significancers1329151473RCV000688250; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505713835057138GCNC_000009.11:g.35057138G>C-C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys)7415VCPUncertain significancers1587117319RCV000809085; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093505742235057422CT9:g.35057422C>T-
NM_007126.5(VCP):c.2214A>G (p.Glu738=)7415VCPBenign/Likely benignrs374391034RCV000175065|RCV000346373|RCV000399763|RCV000526744|RCV001087937; NMedGen:CN169374|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MedGen:CN517202|MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430; MONDO:MONDO:0013501,MedGen:C54393505747435057474TC9:g.35057474T>CClinGen:CA201281C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.2014T>G (p.Leu672Val)7415VCPUncertain significancers757829124RCV000801506; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505920735059207AC9:g.35059207A>C-
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys)7415VCPUncertain significancers765795425RCV000694141; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505951035059510GANC_000009.11:g.35059510G>A-C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.1950G>A (p.Glu650=)7415VCPLikely benignrs752382520RCV000639657; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505954435059544CTNC_000009.11:g.35059544C>TClinGen:CA5039168C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.1704A>G (p.Gln568=)7415VCPBenign/Likely benignrs142577424RCV000246121|RCV000312517|RCV000390268|RCV000714165|RCV001083290; NMedGen:CN169374|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MedGen:CN517202|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:000050793505979035059790TC9:g.35059790T>CClinGen:CA5039187C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.1696-7C>T7415VCPLikely benignrs1554668202RCV000559254; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393505980535059805GANC_000009.11:g.35059805G>AClinGen:CA645549798C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.1695+8A>G7415VCPBenignrs684562RCV000254320|RCV000367237|RCV000393728|RCV000710280|RCV001520362; NMedGen:CN169374|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:CN517202|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:000050793506030235060302TC9:g.35060302T>CClinGen:CA5039205CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.1360-4C>G7415VCPUncertain significancers769279961RCV000639650; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506092435060924GCNC_000009.11:g.35060924G>CClinGen:CA5039261C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.1360-6T>C7415VCPUncertain significancers370296303RCV000299794|RCV000354748; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506092635060926AGNC_000009.11:g.35060926A>GClinGen:CA5039263CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.1360-14C>G7415VCPBenignrs144304208RCV000244337|RCV000324520|RCV000259903|RCV001579713|RCV002058220; NMedGen:CN169374|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:CN517202|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:000050793506093435060934GCNC_000009.11:g.35060934G>CClinGen:CA5039265CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.1329C>T (p.Asn443=)7415VCPLikely benignrs748816624RCV000639656; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506104235061042GA9:g.35061042G>AClinGen:CA5039280C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.1293C>T (p.Asp431=)7415VCPUncertain significancers1828712869RCV001168926|RCV001168927; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506107835061078GA9:g.35061078G>A-
NM_007126.5(VCP):c.1180G>A (p.Val394Met)7415VCPUncertain significancers1587122661RCV000813009; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506158835061588CT9:g.35061588C>T-
NM_007126.5(VCP):c.1092C>T (p.Asp364=)7415VCPBenign/Likely benignrs61752947RCV000264259|RCV000360586|RCV000560152|RCV001559823|RCV001700365; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,O93506167635061676GANC_000009.11:g.35061676G>AClinGen:CA5039308C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.1082-9G>T7415VCPBenignrs12349922RCV000546267|RCV001166033|RCV001166032|RCV001289413|RCV001702503; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:27587293506169535061695CA9:g.35061695C>AClinGen:CA5039312C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.927C>T (p.Ile309=)7415VCPBenignrs34097935RCV000291230|RCV000325072|RCV000714167|RCV000728435|RCV001080044; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:000050793506223235062232GANC_000009.11:g.35062232G>AClinGen:CA5039353C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.812-7C>G7415VCPBenign/Likely benignrs764429197RCV001166036|RCV001166037|RCV002068014; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:27587293506235435062354GC9:g.35062354G>C-
NM_007126.5(VCP):c.811+3G>A7415VCPBenignrs514492RCV000244946|RCV000294534|RCV000382040|RCV000710281|RCV001520363; NMedGen:CN169374|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:CN517202|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:000050793506297235062972CT9:g.35062972C>TClinGen:CA5039377CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.794T>C (p.Phe265Ser)7415VCPUncertain significancers1828756507RCV001167604|RCV001167605; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506299235062992AG9:g.35062992A>G-
NM_007126.5(VCP):c.697A>G (p.Ile233Val)7415VCPUncertain significancers750335399RCV001167606|RCV001167607|RCV001220592|RCV001664718; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,O93506416235064162TC9:g.35064162T>C-
NM_007126.5(VCP):c.695C>A (p.Ala232Glu)7415VCPPathogenicrs121909331RCV000008991|RCV001172005; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:CN51720293506416435064164GT9:g.35064164G>TClinGen:CA254400,UniProtKB:P55072#VAR_033022,OMIM:601023.0003C1833662 167320 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;
NM_007126.5(VCP):c.591C>G (p.Ser197=)7415VCPUncertain significancers866003333RCV001168234|RCV001168235; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506426835064268GC9:g.35064268G>C-
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)7415VCPPathogenic/Likely pathogenicrs121909334RCV000008994|RCV000023064|RCV000516636|RCV000555373; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MedGen:CN517202|MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:61395493506525235065252CT9:g.35065252C>TClinGen:CA254406,UniProtKB:P55072#VAR_033021,OMIM:601023.0006C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)7415VCPConflicting interpretations of pathogenicityrs864309501RCV000202444|RCV000823223; NMONDO:MONDO:0014735,MedGen:C4225244,OMIM:616687, Orphanet:435387|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506527135065271CTNC_000009.11:g.35065271C>TClinGen:CA213386,UniProtKB:P55072#VAR_076467,OMIM:601023.0010C4225244 616687 Charcot-Marie-Tooth disease, axonal, type 2y;
NM_007126.5(VCP):c.552C>T (p.Cys184=)7415VCPLikely benignrs769455914RCV000639659; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506527235065272GANC_000009.11:g.35065272G>AClinGen:CA5039447C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.479C>T (p.Ala160Val)7415VCPUncertain significancers1554668804RCV000639649; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506534535065345GA9:g.35065345G>AClinGen:CA373289480C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.476G>A (p.Arg159His)7415VCPPathogenicrs121909335RCV000008995|RCV000276565|RCV000639653; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:CN517202|MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506534835065348CTNC_000009.11:g.35065348C>TClinGen:CA254408,UniProtKB:P55072#VAR_033020,OMIM:601023.0007
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)7415VCPPathogenic/Likely pathogenicrs387906789RCV000333881|RCV000797868|RCV001095425; NMedGen:CN517202|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506534935065349GANC_000009.11:g.35065349G>AClinGen:CA5039453
NM_007126.5(VCP):c.464G>A (p.Arg155His)7415VCPPathogenicrs121909329RCV000008989|RCV000523065|RCV000540496|RCV001271089; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:CN517202|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:61395493506536035065360CTNC_000009.11:g.35065360C>TUniProtKB:P55072#VAR_033018,OMIM:601023.0001,ClinGen:CA128983
NM_007126.5(VCP):c.464G>C (p.Arg155Pro)7415VCPPathogenicrs121909329RCV000008993|RCV001387337; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:5243093506536035065360CG9:g.35065360C>GClinGen:CA254404,UniProtKB:P55072#VAR_033019,OMIM:601023.0005C1833662 167320 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)7415VCPPathogenic/Likely pathogenicrs121909330RCV000008990|RCV000372207|RCV000685660|RCV001095424; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:CN517202|MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:61395493506536135065361GANC_000009.11:g.35065361G>AClinGen:CA254398,UniProtKB:P55072#VAR_033017,OMIM:601023.0002
NM_007126.5(VCP):c.463C>G (p.Arg155Gly)7415VCPConflicting interpretations of pathogenicityrs121909330RCV000196145|RCV000494556|RCV000801089; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:CN517202|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506536135065361GCNC_000009.11:g.35065361G>CClinGen:CA277489
NM_007126.5(VCP):c.446-4G>A7415VCPConflicting interpretations of pathogenicityrs370700002RCV001168236|RCV001168237|RCV001873558; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,O93506538235065382CT9:g.35065382C>T-
NM_007126.5(VCP):c.384T>C (p.Gly128=)7415VCPConflicting interpretations of pathogenicityrs367703031RCV001168238|RCV001168239|RCV002067829; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,O93506673335066733AG9:g.35066733A>G-
NM_007126.5(VCP):c.374G>A (p.Gly125Asp)7415VCPUncertain significancers1563980403RCV000690011|RCV001809749; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506674335066743CTNC_000009.11:g.35066743C>T-C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.335A>G (p.Lys112Arg)7415VCPUncertain significancers766787045RCV001168241|RCV001168240; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506678235066782TC9:g.35066782T>C-
NM_007126.5(VCP):c.320A>T (p.Asp107Val)7415VCPUncertain significancers1563980440RCV000697394; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506679735066797TA9:g.35066797T>A-C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.303-3C>T7415VCPUncertain significancers1183711292RCV000551678; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506681735066817GA9:g.35066817G>AClinGen:CA658657866C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.294T>A (p.Asp98Glu)7415VCPLikely pathogenicrs1828864269RCV001253196; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506789635067896AT9:g.35067896A>T-
NM_007126.5(VCP):c.283C>G (p.Arg95Gly)7415VCPPathogenicrs121909332RCV000008992; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506790735067907GC9:g.35067907G>CClinGen:CA254402,UniProtKB:P55072#VAR_033016,OMIM:601023.0004C1833662 167320 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)7415VCPPathogenic/Likely pathogenicrs121909332RCV000280148|RCV000761344|RCV001095441|RCV001215048|RCV001391611; NMedGen:CN517202|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:93506790735067907GANC_000009.11:g.35067907G>AClinGen:CA10603200
NM_007126.5(VCP):c.278G>A (p.Arg93His)7415VCPConflicting interpretations of pathogenicityrs779959657RCV000520021|RCV000639651; NMedGen:CN517202|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506791235067912CTNC_000009.11:g.35067912C>TClinGen:CA5039527
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)7415VCPPathogenicrs1554669087RCV000728008|RCV000795760; NMedGen:CN517202|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506791335067913GANC_000009.11:g.35067913G>A-
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)7415VCPPathogenic/Likely pathogenicrs863225291RCV000201935|RCV001271088|RCV001271081; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|93506791935067919TANC_000009.11:g.35067919T>AClinGen:CA279635,OMIM:601023.0012C1833662 167320 Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;
NM_007126.5(VCP):c.213C>T (p.Val71=)7415VCPLikely benignrs1195805928RCV000639660; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506797735067977GANC_000009.11:g.35067977G>AClinGen:CA464602460C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.185A>G (p.Lys62Arg)7415VCPUncertain significancers886063892RCV000351753|RCV000396114; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506800535068005TCNC_000009.11:g.35068005T>CClinGen:CA10633918CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.130-9T>C7415VCPUncertain significancers1828868223RCV001168985|RCV001168986; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506806935068069AG9:g.35068069A>G-
NM_007126.5(VCP):c.84T>A (p.Val28=)7415VCPUncertain significancers1587130660RCV000791644; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320; MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393506829335068293AT9:g.35068293A>T-
NM_007126.5(VCP):c.79A>G (p.Ile27Val)7415VCPBenignrs140913250RCV000390549|RCV000639655|RCV001168987|RCV001168490|RCV001252623|RCV001642885; NMedGen:CN169374|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320, Orphanet:52430|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:61395493506829835068298TC9:g.35068298T>CClinGen:CA5039558C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.41C>T (p.Thr14Ile)7415VCPUncertain significancers1219381953RCV001095442|RCV001196071; NMedGen:CN169374|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506833635068336GA9:g.35068336G>A-
NM_007126.5(VCP):c.30T>A (p.Asp10Glu)7415VCPUncertain significancers1828874096RCV001198195; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093506834735068347AT9:g.35068347A>T-
NM_007126.5(VCP):c.18-5T>C7415VCPBenignrs114256093RCV000338806|RCV000293440|RCV001699407|RCV000548347|RCV001086142; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803; MONDO:MONDO:000050793506836435068364AGNC_000009.11:g.35068364A>GClinGen:CA5039564C3151403 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
NM_007126.5(VCP):c.-53C>T7415VCPUncertain significancers369830702RCV000298964|RCV000400582; NMONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:80393507240335072403GANC_000009.11:g.35072403G>AClinGen:CA10633921CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.-215A>G7415VCPUncertain significancers886063893RCV000407512|RCV000360664; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093507256535072565TC9:g.35072565T>CClinGen:CA10629990CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.-250C>T7415VCPUncertain significancers886063894RCV000272098|RCV000329052; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093507260035072600GA9:g.35072600G>AClinGen:CA10629991CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.5(VCP):c.-267C>T7415VCPBenign/Likely benignrs184152880RCV000362697|RCV000270492|RCV001166090|RCV001166091; NMedGen:CN239244|MedGen:CN239175|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093507261735072617GA9:g.35072617G>AClinGen:CA10629992CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007126.3(VCP):c.-370G>A7415VCPUncertain significancers886063895RCV000332626|RCV000389517; NMONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954, Orphanet:275872, Orphanet:803|MONDO:MONDO:0008178,MedGen:C4551951,OMIM:16732093507272035072720CT9:g.35072720C>TClinGen:CA10633613CN239175 Amyotrophic Lateral Sclerosis, Dominant;
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