MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Dyskinesias (D020820)
..Starting node
..expand
Dystonia (D004421)

       Child Nodes:
........expandAmyotrophic Dystonic Paraplegia (C566292)
........expandCervical Dystonia, Primary (C566572)
........expandDystonia 13, Torsion (C564354)
........expandDystonia with Cerebellar Atrophy (C567131)
........expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
........expandEpilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
........expandFamilial paroxysmal dystonia (C537180)
........expandGLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
........expandLEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
........expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
........expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
........expandMarsden syndrome (C536024)
........expandMohr-Tranebjaerg syndrome (C535808)  LSDB  L: 00113;
........expandNEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
........expandTorsion dystonia with onset in infancy (C536969)
........expandTorticollis (D014103) Child5



 Sister Nodes: 
..expandAtaxia (D001259) Child126  LSDB C:5
..expandAthetosis (D001264) Child3
..expandBobble-head doll syndrome (C536241)
..expandCatalepsy (D002375)
..expandChorea (D002819) Child17
..expandChoreoathetosis-Spasticity, Episodic (C563401)
..expandDyskinesia, Drug-Induced (D004409)
..expandDyskinesia, Familial, with Facial Myokymia (C564676)
..expandDYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..expandDystonia (D004421) Child18  LSDB C:1
..expandEpisodic Kinesigenic Dyskinesia 2 (C567026)
..expandHyperkinesis (D006948)
..expandHypokinesia (D018476) Child1
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental Retardation, X-Linked, Syndromic 10 (C564560)  LSDB  L: 00526;
..expandMicrocephaly pontocerebellar hypoplasia dyskinesia (C537543)
..expandMIRROR MOVEMENTS 1 (OMIM:157600)
..expandMIRROR MOVEMENTS 2 (OMIM:614508)
..expandMIRROR MOVEMENTS 3 (OMIM:616059)
..expandMyoclonus (D009207) Child10
..expandParoxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia (C567412)
..expandPsychomotor Agitation (D011595) Child1
..expandSynkinesis (D046608) Child2
..expandTics (D020323)
..expandTremor (D014202) Child6
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3921
Name:Dystonia
Definition:An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Alternative IDs:DO:DOID:543|OMIM:612067|OMIM:614860|OMIM:615034|OMIM:615073|OMIM:616411
ParentIDs:MESH:D020820
TreeNumbers:C10.597.350.300 |C23.888.592.350.300
Synonyms:Diurnal Dystonia |DYSTONIA 16 |DYSTONIA 23 |DYSTONIA 24 |DYSTONIA 25 |DYSTONIA 27 |Dystonia, Diurnal |Dystonia, Limb |Dystonia, Muscle |Dystonia, Paroxysmal |DYT16 |DYT23 |DYT24 |DYT25 |DYT27 |Limb Dystonia |Muscle Dystonia |Paroxysmal Dystonia
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: D004421
MeSH: D004421
OMIM: 612067;
MSeqDR LSDB:
MSeqDR has 1 matches in descendants: 00113;  
Genes: ANO3; CACNA1B; GNAL; PRKRA;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007256Abnormal pyramidal signs
3 HP:0002067Bradykinesia
4 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
HP:0040283
5 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
6 HP:0001260Dysarthria
NAMDC:  Dysarthria
7 HP:0002015Dysphagia
NAMDC:  Dysphagia
8 HP:0001618Dysphonia
9 HP:0001288Gait disturbance
10 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11 HP:0004305Involuntary movements
12 HP:0012049Laryngeal dystonia
13 HP:0002451Limb dystonia
14 HP:0009763Limb pain
15 HP:0012514Lower limb pain
16 HP:0002062Morphological abnormality of the pyramidal tract
17 HP:0001270Motor delay
18 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
19 HP:0002174Postural tremor
20 HP:0003676Progressive
21 HP:0002544Retrocollis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)-1PJVK;PRKRABenign/Likely benignrs62176112RCV000399335|RCV000407894|RCV001130745|RCV001594966; NMedGen:CN239439|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179315726179315726GANC_000002.11:g.179315726G>AClinGen:CA1984089C0393593 Dystonia;
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)-1PJVK;PRKRABenign/Likely benignrs141354030RCV000304508|RCV000311895|RCV000986933|RCV001528997|RCV001579908; NMedGen:CN239439|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN169374|MedGen:CN5172022179315735179315736GGCG2:g.179315735_179315736delClinGen:CA1984091C0393593 Dystonia;
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)-1PJVK;PRKRABenign/Likely benignrs9406386RCV000357343|RCV000361598|RCV000454425|RCV000986934|RCV001691951; NHuman Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:CN239439|MedGen:CN169374|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179315757179315757TG2:g.179315757T>GClinGen:CA1984093C0393593 Dystonia;
NM_003690.5(PRKRA):c.-24G>A-1PJVK;PRKRABenign/Likely benignrs62176113RCV000264410|RCV000317546|RCV001133707|RCV001653612; NMedGen:CN239439|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179315781179315781CTNC_000002.11:g.179315781C>TClinGen:CA1984100C0393593 Dystonia;
NM_003690.5(PRKRA):c.*655T>C8575PRKRAUncertain significancers4533501RCV001133566; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296169179296169AG2:g.179296169A>G-
NM_003690.5(PRKRA):c.*576G>A8575PRKRAUncertain significancers1696648689RCV001133567; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296248179296248CT2:g.179296248C>T-
NM_003690.5(PRKRA):c.*553A>G8575PRKRAUncertain significancers3997881RCV001133568; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296271179296271TC2:g.179296271T>C-
NM_003690.5(PRKRA):c.*313G>A8575PRKRAConflicting interpretations of pathogenicityrs3997879RCV000407066|RCV001690098; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179296511179296511CT2:g.179296511C>TClinGen:CA10612952C0393593 Dystonia;
NM_003690.5(PRKRA):c.*265A>C8575PRKRAUncertain significancers886055201RCV000307058; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296559179296559TG2:g.179296559T>GClinGen:CA10611978C0393593 Dystonia;
NM_003690.5(PRKRA):c.*200G>A8575PRKRABenign/Likely benignrs141995027RCV001133569|RCV001561469; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179296624179296624CT2:g.179296624C>T-
NM_003690.5(PRKRA):c.*198C>T8575PRKRABenignrs3997878RCV000371098|RCV001597096; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179296626179296626GA2:g.179296626G>AClinGen:CA10611980C0393593 Dystonia;
NM_003690.5(PRKRA):c.*180C>T8575PRKRAUncertain significancers886055202RCV000276536; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296644179296644GA2:g.179296644G>AClinGen:CA10613185C0393593 Dystonia;
NM_003690.5(PRKRA):c.*159T>C8575PRKRABenign/Likely benignrs115244185RCV000331570|RCV001556258; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179296665179296665AG2:g.179296665A>GClinGen:CA10612955C0393593 Dystonia;
NM_003690.5(PRKRA):c.*158A>G8575PRKRAConflicting interpretations of pathogenicityrs3997877RCV000367520|RCV001594965; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179296666179296666TCNC_000002.11:g.179296666T>CClinGen:CA10611981C0393593 Dystonia;
NM_003690.5(PRKRA):c.*151A>T8575PRKRAUncertain significancers886055203RCV000263510; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296673179296673TANC_000002.11:g.179296673T>AClinGen:CA10611984C0393593 Dystonia;
NM_003690.5(PRKRA):c.*79G>A8575PRKRAUncertain significancers9678530RCV001135059; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296745179296745CT2:g.179296745C>T-
NM_003690.5(PRKRA):c.*31G>A8575PRKRALikely benignrs372585947RCV001135060; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296793179296793CT2:g.179296793C>T-
NC_000002.11:g.(?_179296804)_(179456251_?)dup8575PRKRAUncertain significance-1RCV000708061; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296804179456251nana-C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.*3C>T8575PRKRABenignrs3997876RCV000318859|RCV001675829; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179296821179296821GANC_000002.11:g.179296821G>AClinGen:CA1983690C0393593 Dystonia;
NM_003690.5(PRKRA):c.902A>G (p.Asn301Ser)8575PRKRAUncertain significance-1RCV001987261; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296864179296864TC179296864-
NM_003690.5(PRKRA):c.891T>C (p.Asp297=)8575PRKRALikely benign-1RCV001420044; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296875179296875AG179296875-
NM_003690.5(PRKRA):c.870C>T (p.Ser290=)8575PRKRAUncertain significancers537898766RCV000373560; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296896179296896GANC_000002.11:g.179296896G>AClinGen:CA1983699C0393593 Dystonia;
NM_003690.5(PRKRA):c.861C>T (p.Ser287=)8575PRKRALikely benignrs116833881RCV000615771|RCV001556543; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179296905179296905GA2:g.179296905G>AClinGen:CA1983700C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe)8575PRKRAUncertain significancers199725025RCV000646155; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296915179296915CANC_000002.11:g.179296915C>AClinGen:CA1983701C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.840C>T (p.Pro280=)8575PRKRALikely benign-1RCV002199644; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296926179296926GA179296926-
NM_003690.5(PRKRA):c.800A>G (p.Asn267Ser)8575PRKRAUncertain significancers557879457RCV001233813; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296966179296966TC2:g.179296966T>C-
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr)8575PRKRAConflicting interpretations of pathogenicityrs148050153RCV001130039; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296970179296970CT2:g.179296970C>T-
NM_003690.5(PRKRA):c.795C>T (p.Ser265=)8575PRKRABenignrs150679361RCV000537834|RCV001672841; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179296971179296971GANC_000002.11:g.179296971G>AClinGen:CA1983709C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.795C>A (p.Ser265Arg)8575PRKRAUncertain significance-1RCV001929742; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296971179296971GT179296971-
NM_003690.5(PRKRA):c.792G>C (p.Leu264=)8575PRKRALikely benign-1RCV001492593; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296974179296974CG179296974-
NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT8575PRKRAUncertain significancers751875722RCV000490410; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179296982179296983CCTATATCCAAATA2:g.179296982_179296983insTATATCCAAATAClinGen:CA1983712C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.784+15T>C8575PRKRAUncertain significancers367606024RCV000279031; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179300857179300857AGNC_000002.11:g.179300857A>GClinGen:CA1983762C0393593 Dystonia;
NM_003690.5(PRKRA):c.784+15del8575PRKRABenign-1RCV002083090; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179300857179300857GAG179300856-
NM_003690.5(PRKRA):c.784+14T>A8575PRKRALikely benign-1RCV002152969; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179300858179300858AT179300858-
NM_003690.5(PRKRA):c.784+6A>T8575PRKRAConflicting interpretations of pathogenicityrs188208530RCV000488037|RCV001079517; NMedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179300866179300866TA2:g.179300866T>AClinGen:CA1983774C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.766A>G (p.Ile256Val)8575PRKRAUncertain significancers769913085RCV000646154; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179300890179300890TC2:g.179300890T>CClinGen:CA1983780C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.704G>C (p.Ser235Thr)8575PRKRAUncertain significancers756005650RCV000585196|RCV001859728; NMedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179300952179300952CG2:g.179300952C>GClinGen:CA1983788CN517202 not provided;
NM_003690.5(PRKRA):c.685C>T (p.Leu229=)8575PRKRABenignrs62176107RCV001579885|RCV000860770; NMedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179300971179300971GANC_000002.11:g.179300971G>AClinGen:CA1983794C0393593 Dystonia;
NM_003690.5(PRKRA):c.680A>G (p.Asn227Ser)8575PRKRAUncertain significance-1RCV002022974; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179300976179300976TC179300976-
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn)8575PRKRABenignrs77419724RCV000379417|RCV001653610; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179300979179300979ATNC_000002.11:g.179300979A>TClinGen:CA1983795C0393593 Dystonia;
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)8575PRKRAPathogenicrs121434410RCV000006718|RCV001786327; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179300991179300991GA2:g.179300991G>AClinGen:CA118133,UniProtKB:O75569#VAR_046213,OMIM:603424.0001C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.654G>A (p.Leu218=)8575PRKRAUncertain significancers763093482RCV001130040; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179301002179301002CT2:g.179301002C>T-
NM_003690.5(PRKRA):c.637T>C (p.Cys213Arg)8575PRKRAUncertain significancers1575088174RCV000850587; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179301019179301019AG2:g.179301019A>G-
NM_003690.5(PRKRA):c.611C>G (p.Thr204Arg)8575PRKRAUncertain significancers1351253817RCV000646156; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179301045179301045GCNC_000002.11:g.179301045G>CClinGen:CA349401193C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA8575PRKRALikely pathogenic-1RCV001355601; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179301046179301047TTTAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC179301046-
NM_003690.5(PRKRA):c.610-11_610-10del8575PRKRABenign/Likely benignrs138320145RCV000285008|RCV000646158|RCV001653611; NHuman Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421,OMIM:PS128100|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179301056179301057CAGCNC_000002.11:g.179301057GA[1]ClinGen:CA1983825C0393593 Dystonia;
NM_003690.5(PRKRA):c.609+20A>G8575PRKRABenign/Likely benign-1RCV001590411|RCV002072353; NMedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179306317179306317TC179306317-
NM_003690.5(PRKRA):c.549T>C (p.Asn183=)8575PRKRABenignrs61746229RCV000340042; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179306397179306397AGNC_000002.11:g.179306397A>GClinGen:CA1983851C0393593 Dystonia;
NM_003690.5(PRKRA):c.515-11del8575PRKRABenign/Likely benignrs199996045RCV000395086|RCV001555781|RCV002057612; NHuman Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179306442179306442GAGNC_000002.11:g.179306446delClinGen:CA1983871C0393593 Dystonia;
NM_003690.5(PRKRA):c.500C>T (p.Ser167Leu)8575PRKRAUncertain significance-1RCV001966739; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179308008179308008GA179308008-
NM_003690.5(PRKRA):c.397-3T>C8575PRKRABenignrs200249113RCV000290931; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179308114179308114AGNC_000002.11:g.179308114A>GClinGen:CA1983911C0393593 Dystonia;
NM_003690.5(PRKRA):c.397-6T>G8575PRKRAUncertain significance-1RCV002027859; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179308117179308117AC179308117-
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu)8575PRKRABenignrs75862065RCV000390494; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179309165179309165GANC_000002.11:g.179309165G>AClinGen:CA1983939C0393593 Dystonia;
NM_003690.5(PRKRA):c.377A>G (p.Asn126Ser)8575PRKRAUncertain significancers1553597653RCV000646157; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179309168179309168TCNC_000002.11:g.179309168T>CClinGen:CA349404829C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.348C>T (p.Asp116=)8575PRKRALikely benign-1RCV001461244; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179309197179309197GA179309197-
NM_003690.5(PRKRA):c.335C>G (p.Pro112Arg)8575PRKRAUncertain significancers151157679RCV000809836; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179309210179309210GC2:g.179309210G>C-
NM_003690.5(PRKRA):c.319T>C (p.Phe107Leu)8575PRKRAUncertain significancers1369422271RCV001300785; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179309226179309226AG179309226-
NM_003690.5(PRKRA):c.308C>T (p.Ala103Val)8575PRKRAUncertain significance-1RCV002012350; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179312241179312241GA179312241-
NM_003690.5(PRKRA):c.285C>A (p.Ala95=)8575PRKRALikely benign-1RCV001474136; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179312264179312264GT179312264-
NM_003690.5(PRKRA):c.267_268del (p.His89fs)8575PRKRAPathogenicrs730880307RCV000006719; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179312281179312282CTAC2:g.179312281_179312282delClinGen:CA212851,OMIM:603424.0002C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.261G>A (p.Ala87=)8575PRKRALikely benignrs778921785RCV000874091|RCV001397909; NMedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179312288179312288CT2:g.179312288C>T-
NM_003690.5(PRKRA):c.256C>G (p.Leu86Val)8575PRKRAUncertain significancers1311237497RCV000544292; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179312293179312293GC2:g.179312293G>CClinGen:CA349405652C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.235+11A>G8575PRKRALikely benign-1RCV002188250; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179314958179314958TC179314958-
NM_003690.5(PRKRA):c.233C>A (p.Thr78Lys)8575PRKRAUncertain significancers189979808RCV001037974; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179314971179314971GT2:g.179314971G>T-
NM_003690.5(PRKRA):c.230G>C (p.Cys77Ser)8575PRKRAUncertain significance-1RCV001944093; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179314974179314974CG179314974-
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly)8575PRKRABenign/Likely benignrs61999302RCV000315467|RCV001534920|RCV000860794; NHuman Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421,OMIM:PS128100|MedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315031179315031TCNC_000002.11:g.179315031T>CClinGen:CA1984024C0393593 Dystonia;
NM_003690.5(PRKRA):c.131T>C (p.Met44Thr)8575PRKRAUncertain significancers1553599437RCV000646153; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315073179315073AGNC_000002.11:g.179315073A>GClinGen:CA349396254C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.109C>G (p.Gln37Glu)8575PRKRAUncertain significance-1RCV002014360; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315095179315095GC179315095-
NM_003690.5(PRKRA):c.85G>A (p.Ala29Thr)8575PRKRAUncertain significancers1293335092RCV001350679; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315119179315119CT179315119-
NM_003690.5(PRKRA):c.84A>G (p.Thr28=)8575PRKRALikely benign-1RCV001479073; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315120179315120TC179315120-
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr)8575PRKRAUncertain significancers780703241RCV001130743; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315124179315124AG2:g.179315124A>G-
NM_003690.5(PRKRA):c.77T>A (p.Met26Lys)8575PRKRAUncertain significance-1RCV001880476; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315127179315127AT179315127-
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT8575PRKRABenignrs1553599483RCV001197596; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315141179315142GGAAGGTCCCACTGTCCTCGCGCTCCAGCGGCAGGGCCTCGGCGGTGCCTGCTCTGGGA2:g.179315141_179315142insAAGGTCCCACTGTCCTCGCGCTCCAGCGGCAGGGCCTCGGCGGTGCCTGCTCTGGGA-
NM_001139517.1(PRKRA):c.27_28ins57 (p.?)8575PRKRABenign-1RCV000625218; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315143179315144nana-C2677567 612067 Dystonia 16;
NM_003690.5(PRKRA):c.66-10G>T8575PRKRALikely benign-1RCV002075495; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315148179315148CA179315148-
NM_003690.5(PRKRA):c.65+16G>A8575PRKRABenign-1RCV002213176; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315677179315677CT179315677-
NM_003690.5(PRKRA):c.65+15A>C8575PRKRALikely benign-1RCV002196189; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315678179315678TG179315678-
NM_003690.5(PRKRA):c.65+10C>T8575PRKRABenign/Likely benignrs535076601RCV000370077; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315683179315683GANC_000002.11:g.179315683G>AClinGen:CA1984082C0393593 Dystonia;
NM_003690.5(PRKRA):c.54T>C (p.Ser18=)8575PRKRAUncertain significancers1235471739RCV001130744; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315704179315704AG2:g.179315704A>G-
NM_003690.5(PRKRA):c.40G>A (p.Glu14Lys)8575PRKRAUncertain significance-1RCV001944672; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315718179315718CT179315718-
NM_003690.5(PRKRA):c.32C>G (p.Pro11Arg)8575PRKRAUncertain significancers62176112RCV000810258; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315726179315726GC2:g.179315726G>C-
NM_003690.5(PRKRA):c.1A>G (p.Met1Val)8575PRKRAUncertain significancers9406386RCV001306210; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315757179315757TC179315757-
NM_003690.5(PRKRA):c.-11C>T8575PRKRAUncertain significancers767401214RCV000262327; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315768179315768GANC_000002.11:g.179315768G>AClinGen:CA1984096C0393593 Dystonia;
NM_003690.5(PRKRA):c.-14C>T8575PRKRAConflicting interpretations of pathogenicityrs181793341RCV001133706|RCV001585997; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN5172022179315771179315771GA2:g.179315771G>A-
NM_003690.5(PRKRA):c.-64C>G8575PRKRAUncertain significancers576729883RCV001133708; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315821179315821GC2:g.179315821G>C-
NM_003690.5(PRKRA):c.-65C>G8575PRKRAUncertain significancers557426364RCV000353699; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315822179315822GCNC_000002.11:g.179315822G>CClinGen:CA10613186C0393593 Dystonia;
NM_003690.5(PRKRA):c.-104G>A8575PRKRAUncertain significancers545506202RCV000268075; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315861179315861CTNC_000002.11:g.179315861C>TClinGen:CA10611553C0393593 Dystonia;
NM_003690.5(PRKRA):c.-117C>T8575PRKRAUncertain significancers886055204RCV000323424; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315874179315874GANC_000002.11:g.179315874G>AClinGen:CA10612965C0393593 Dystonia;
NM_003690.5(PRKRA):c.-124C>A8575PRKRAUncertain significancers186454714RCV001133709; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315881179315881GT2:g.179315881G>T-
NM_003690.5(PRKRA):c.-125G>A8575PRKRAUncertain significancers190533045RCV001135199; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315882179315882CT2:g.179315882C>T-
NM_003690.5(PRKRA):c.-133C>G8575PRKRAUncertain significancers80197731RCV000378059; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315890179315890GCNC_000002.11:g.179315890G>CClinGen:CA10612966C0393593 Dystonia;
NM_003690.5(PRKRA):c.-141C>A8575PRKRAUncertain significancers1395280729RCV001135200; NMONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:2105712179315898179315898GT2:g.179315898G>T-
MSeqDR Portal