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
Term ID:9585
Name:Paroxysmal nonkinesigenic dyskinesia
Definition:
Alternative IDs:OMIM:118800
ParentIDs:MESH:D002819
TreeNumbers:C10.228.662.262.249/C537181 |C10.597.350.250/C537181 |C23.888.592.350.250/C537181
Synonyms:Choreoathetosis familial paroxysmal |Choreoathetosis, Familial Paroxysmal |Choreoathetosis, Nonkinesigenic |Dystonia 8 |DYT8 |Familial paroxysmal choreoathetosis |Familial Paroxysmal Nonkinesigenic Dyskinesia |FPD1 |Mount-Reback syndrome |Nonkinesigenic choreoath
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: C537181
MeSH: C537181
OMIM: 118800;
MSeqDR LSDB:  
Genes: PNKD;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0011463Childhood onset
3 HP:0003593Infantile onset
4 HP:0001260Dysarthria
NAMDC:  Dysarthria
5 HP:0002015Dysphagia
NAMDC:  Dysphagia
6 HP:0000273Facial grimacing
7 HP:0002411Myokymia
8 HP:0007098Paroxysmal choreoathetosis
9 HP:0002268Paroxysmal dystonia
10 HP:0000473Torticollis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_015488.4(PNKD):c.-105A>T25953PNKDLikely benignrs183319984RCV000285261|RCV001590978; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN5172022219135154219135154ATNC_000002.11:g.219135154A>TClinGen:CA10612417C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.4(PNKD):c.-79C>A25953PNKDUncertain significancers886055618RCV000340274; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219135180219135180CANC_000002.11:g.219135180C>AClinGen:CA10614281C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.4(PNKD):c.-65G>A25953PNKDUncertain significancers570619432RCV000402391; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219135194219135194GANC_000002.11:g.219135194G>AClinGen:CA10614283C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.2T>G (p.Met1Arg)25953PNKDUncertain significancers775653461RCV000300361; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219135260219135260TGNC_000002.11:g.219135260T>GClinGen:CA2103218C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)25953PNKDPathogenicrs121434512RCV000001970|RCV001050396; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219135278219135278CTNC_000002.11:g.219135278C>TClinGen:CA251963,UniProtKB:Q8N490#VAR_034844,OMIM:609023.0002
NM_015488.5(PNKD):c.24G>A (p.Thr8=)25953PNKDLikely benignrs371342116RCV000527380|RCV001142369; NMONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219135282219135282GANC_000002.11:g.219135282G>AClinGen:CA2103225C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.26C>T (p.Ala9Val)25953PNKDPathogenicrs121434511RCV000001969|RCV000414943|RCV001092425; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|Human Phenotype Ontology:HP:0002268,Human Phenotype Ontology:HP:0002412,MONDO:MONDO:0016058,MedGen:C0393588, Orphanet:200037; Human Phenotype Ontology:HP:0007166,MONDO:MONDO:0015427,MedGen:C072219135284219135284CT2:g.219135284C>TClinGen:CA251962,UniProtKB:Q8N490#VAR_034845,OMIM:609023.0001C1863061 Episodic hemiplegia;
NM_015488.5(PNKD):c.33G>A (p.Lys11=)25953PNKDLikely benignrs1553654482RCV000644972; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219135291219135291GANC_000002.11:g.219135291G>AClinGen:CA431226346 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.37C>T (p.Arg13Trp)25953PNKDUncertain significancers886055619RCV000355455|RCV000796034; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219135295219135295CTNC_000002.11:g.219135295C>TClinGen:CA10614289C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.47G>T (p.Arg16Ile)25953PNKDUncertain significancers1553654496RCV000529262; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219135305219135305GTNC_000002.11:g.219135305G>TClinGen:CA350543661C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.83C>G (p.Ala28Gly)25953PNKDUncertain significancers767828489RCV000690450; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219136119219136119CGNC_000002.11:g.219136119C>G- 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro)25953PNKDBenignrs121434513RCV000001971|RCV000858413; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219136133219136133GC2:g.219136133G>CClinGen:CA251964,OMIM:609023.0003C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.233C>T (p.Ala78Val)25953PNKDUncertain significancers1201792156RCV000534647; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219136269219136269CTNC_000002.11:g.219136269C>TClinGen:CA350544931C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.236+1180G>A25953PNKDBenignrs148049021RCV000601713; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219137452219137452GA2:g.219137452G>AClinGen:CA2103330 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.237-16514T>A25953PNKDUncertain significancers776565425RCV001195972; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219187992219187992TA2:g.219187992T>A-
NM_015488.5(PNKD):c.237-16374C>T25953PNKDUncertain significancers201323830RCV000626133|RCV000762320; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN5172022219188132219188132CTNC_000002.11:g.219188132C>TClinGen:CA2103837 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.237-9G>A25953PNKDBenign/Likely benignrs371173395RCV000457069|RCV001142370|RCV001584187; NMONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN5172022219204497219204497GANC_000002.11:g.219204497G>AClinGen:CA2103865C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.254G>A (p.Arg85His)25953PNKDBenign/Likely benignrs150402000RCV000392081|RCV000858569; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219204523219204523GA2:g.219204523G>AClinGen:CA2103870C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)25953PNKDBenign/Likely benignrs147259983RCV000296995|RCV000676679|RCV001081326; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN517202|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219204534219204534GA2:g.219204534G>AClinGen:CA2103873CN517202 not provided;
NM_015488.5(PNKD):c.299C>T (p.Ala100Val)25953PNKDConflicting interpretations of pathogenicityrs374645683RCV000370426; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219204568219204568CT2:g.219204568C>TClinGen:CA2103886C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp)25953PNKDLikely benignrs533033409RCV000539727; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219204570219204570CTNC_000002.11:g.219204570C>TClinGen:CA2103887C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.302G>A (p.Arg101Gln)25953PNKDUncertain significancers368934552RCV000276034|RCV001216116; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219204571219204571GA2:g.219204571G>AClinGen:CA2103888C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.323A>G (p.His108Arg)25953PNKDConflicting interpretations of pathogenicityrs142536637RCV000423871|RCV000644966|RCV001142371; NMedGen:CN517202|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219204592219204592AG2:g.219204592A>GClinGen:CA2103895CN517202 not provided;
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)25953PNKDBenign/Likely benignrs202190131RCV000331079|RCV000791427; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219204600219204600AGNC_000002.11:g.219204600A>GClinGen:CA2103897C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.341G>A (p.Arg114His)25953PNKDUncertain significancers781140528RCV001137620|RCV001873540; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219204610219204610GA2:g.219204610G>A-
NM_015488.5(PNKD):c.352+12C>T25953PNKDBenignrs201092853RCV000367165|RCV002057660; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219204633219204633CT2:g.219204633C>TClinGen:CA2103906C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu)25953PNKDUncertain significancers1694626257RCV001137621; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219204767219204767CT2:g.219204767C>T-
NM_015488.5(PNKD):c.370A>G (p.Ile124Val)25953PNKDUncertain significancers909331529RCV000644968; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219204769219204769AG2:g.219204769A>GClinGen:CA65758970 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.454C>T (p.Arg152Trp)25953PNKDUncertain significancers756863425RCV000540511; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219204853219204853CT2:g.219204853C>TClinGen:CA2103950C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.455G>A (p.Arg152Gln)25953PNKDBenignrs73990423RCV000272595|RCV000857916|RCV001598655; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MedGen:CN5172022219204854219204854GA2:g.219204854G>AClinGen:CA2103951C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.466-11C>T25953PNKDBenignrs142473649RCV000327715|RCV001636934|RCV002057661; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN517202|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219205440219205440CT2:g.219205440C>TClinGen:CA2103967C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.466-3C>A25953PNKDBenign/Likely benignrs370929830RCV000382305|RCV000791376; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219205448219205448CANC_000002.11:g.219205448C>AClinGen:CA2103972C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.476A>T (p.Glu159Val)25953PNKDUncertain significancers758928375RCV000288062; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219205461219205461AT2:g.219205461A>TClinGen:CA2103976C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.486G>A (p.Gly162=)25953PNKDBenignrs34014804RCV000249614|RCV000324338|RCV001079524|RCV000676680; NMedGen:CN169374|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MedGen:CN5172022219205471219205471GA2:g.219205471G>AClinGen:CA2103980CN517202 not provided;
NM_015488.5(PNKD):c.490A>G (p.Thr164Ala)25953PNKDUncertain significance-1RCV001799569; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219205475219205475AG219205475-
NM_015488.5(PNKD):c.499G>A (p.Ala167Thr)25953PNKDUncertain significancers1219443955RCV000497951|RCV000644965; NMedGen:CN517202|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219205484219205484GA2:g.219205484G>AClinGen:CA350539998CN169374 not specified;
NM_015488.5(PNKD):c.524+13C>T25953PNKDBenignrs150529046RCV000377769|RCV002057662; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219205522219205522CT2:g.219205522C>TClinGen:CA2103988C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.526G>A (p.Asp176Asn)25953PNKDUncertain significancers1553674143RCV000541865; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206258219206258GANC_000002.11:g.219206258G>AClinGen:CA350540258C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.557G>A (p.Arg186Gln)25953PNKDUncertain significancers143162613RCV000644962; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206289219206289GA2:g.219206289G>AClinGen:CA2104006 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.559C>T (p.Arg187Trp)25953PNKDConflicting interpretations of pathogenicityrs375550686RCV000555038|RCV001139846; NMONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206291219206291CT2:g.219206291C>TClinGen:CA2104007C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.560G>A (p.Arg187Gln)25953PNKDBenign/Likely benignrs141506076RCV000283293|RCV000858319|RCV001545540; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MedGen:CN5172022219206292219206292GA2:g.219206292G>AClinGen:CA2104008C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.585del (p.Ser196fs)25953PNKDUncertain significancers761519363RCV000627409|RCV000689092|RCV002053127; NMedGen:CN517202|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206315219206315CGCNC_000002.11:g.219206317delClinGen:CA2104016CN169374 not specified;
NM_015488.5(PNKD):c.597C>T (p.Asp199=)25953PNKDConflicting interpretations of pathogenicityrs139122042RCV000338227|RCV001406337; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219206329219206329CT2:g.219206329C>TClinGen:CA2104020C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.618T>A (p.His206Gln)25953PNKDUncertain significancers776176020RCV000704762; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206704219206704TANC_000002.11:g.219206704T>A- 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.628C>A (p.His210Asn)25953PNKDUncertain significancers886055620RCV000394652; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206714219206714CA2:g.219206714C>AClinGen:CA10614136C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.652C>A (p.Arg218=)25953PNKDBenignrs34745867RCV000279580|RCV001081844|RCV000676681; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MedGen:CN5172022219206738219206738CANC_000002.11:g.219206738C>AClinGen:CA2104054CN517202 not provided;
NM_015488.5(PNKD):c.653G>A (p.Arg218Gln)25953PNKDBenign/Likely benignrs746884706RCV000334574|RCV000865353; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219206739219206739GANC_000002.11:g.219206739G>AClinGen:CA2104056C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.733G>T (p.Gly245Cys)25953PNKDUncertain significancers769143232RCV001198704; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206819219206819GT2:g.219206819G>T-
NM_015488.5(PNKD):c.773C>T (p.Ser258Phe)25953PNKDUncertain significancers777714592RCV000644964; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206859219206859CT2:g.219206859C>TClinGen:CA2104077 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.781+12C>T25953PNKDBenign/Likely benignrs370963150RCV000251321|RCV000313633|RCV001651212|RCV002058263; NMedGen:CN169374|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN517202|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219206879219206879CT2:g.219206879C>TClinGen:CA2104081CN169374 not specified;
NM_015488.5(PNKD):c.781+12C>G25953PNKDLikely benignrs370963150RCV000400054; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219206879219206879CGNC_000002.11:g.219206879C>GClinGen:CA2104082C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.785G>A (p.Arg262Gln)25953PNKDConflicting interpretations of pathogenicityrs759669801RCV000368051|RCV001770270|RCV001850803; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN517202|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219208226219208226GANC_000002.11:g.219208226G>AClinGen:CA2104111C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.854C>A (p.Thr285Asn)25953PNKDUncertain significancers754573542RCV000695995; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219208295219208295CANC_000002.11:g.219208295C>A- 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys)25953PNKDUncertain significancers1694770280RCV001253244; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209187219209187AG2:g.219209187A>G-
NM_015488.5(PNKD):c.919G>A (p.Glu307Lys)25953PNKDBenign/Likely benignrs139825405RCV000644971|RCV001563556|RCV001140630; NMONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MedGen:CN517202|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209228219209228GA2:g.219209228G>AClinGen:CA2104152 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.930C>A (p.Ala310=)25953PNKDLikely benignrs146224183RCV000644973; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209239219209239CA2:g.219209239C>AClinGen:CA2104154 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.939G>A (p.Arg313=)25953PNKDBenignrs116144189RCV000390378|RCV000676682|RCV001084477; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN517202|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219209248219209248GANC_000002.11:g.219209248G>AClinGen:CA2104157CN517202 not provided;
NM_015488.5(PNKD):c.959G>A (p.Arg320Gln)25953PNKDBenign/Likely benignrs200815994RCV000309771|RCV000868563; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:988102219209268219209268GANC_000002.11:g.219209268G>AClinGen:CA2104161C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.973C>T (p.Arg325Cys)25953PNKDUncertain significancers149750691RCV000226200; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209282219209282CT2:g.219209282C>TClinGen:CA2104166C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.1010G>A (p.Arg337His)25953PNKDUncertain significancers374137801RCV000173870|RCV000691497; NMedGen:CN517202|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209556219209556GA2:g.219209556G>AClinGen:CA239328CN169374 not specified;
NM_015488.5(PNKD):c.1094A>T (p.Asp365Val)25953PNKDUncertain significancers754318977RCV000694505; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209640219209640AT2:g.219209640A>T- 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.1115T>C (p.Leu372Pro)25953PNKDUncertain significancers1694789383RCV001198457; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209661219209661TC2:g.219209661T>C-
NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln)25953PNKDUncertain significancers148141539RCV000706008; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209676219209676GANC_000002.11:g.219209676G>A- 118800 Paroxysmal nonkinesigenic dyskinesia 1;
NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del)25953PNKDBenign/Likely benignrs576363906RCV000364443|RCV000858579|RCV001672572; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117, Orphanet:98810|MedGen:CN5172022219209685219209690GATATGCGNC_000002.11:g.219209686_219209691delClinGen:CA2104216C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*33C>T25953PNKDBenignrs766072633RCV000270065; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209737219209737CTNC_000002.11:g.219209737C>TClinGen:CA2104228C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*38G>A25953PNKDBenignrs201679687RCV000325169; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209742219209742GANC_000002.11:g.219209742G>AClinGen:CA2104231C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*92C>A25953PNKDBenignrs921970RCV000361098|RCV001683336; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN5172022219209796219209796CANC_000002.11:g.219209796C>AClinGen:CA10612425C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*155C>T25953PNKDUncertain significancers753020574RCV001142491; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209859219209859CT2:g.219209859C>T-
NM_015488.5(PNKD):c.*181G>C25953PNKDBenignrs73088173RCV000266517|RCV001723924; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN5172022219209885219209885GCNC_000002.11:g.219209885G>CClinGen:CA10612429C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*206C>T25953PNKDUncertain significancers886055622RCV000322305; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209910219209910CTNC_000002.11:g.219209910C>TClinGen:CA10612430C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*211C>T25953PNKDBenign/Likely benignrs189926206RCV001142492|RCV001576351; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:98810|MedGen:CN5172022219209915219209915CT2:g.219209915C>T-
NM_015488.5(PNKD):c.*212G>A25953PNKDUncertain significancers989494170RCV001142493; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209916219209916GA2:g.219209916G>A-
NM_015488.5(PNKD):c.*253C>T25953PNKDUncertain significancers1456301565RCV001142494; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219209957219209957CT2:g.219209957C>T-
NM_015488.5(PNKD):c.*311G>T25953PNKDLikely benignrs535683095RCV000376912; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210015219210015GTNC_000002.11:g.219210015G>TClinGen:CA10612805C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*451A>G25953PNKDBenignrs148230498RCV000263712; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210155219210155AGNC_000002.11:g.219210155A>GClinGen:CA10612434C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*507G>C25953PNKDBenignrs7586140RCV000318926; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210211219210211GCNC_000002.11:g.219210211G>CClinGen:CA10612809C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*607T>C25953PNKDBenignrs141201996RCV000373622; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210311219210311TCNC_000002.11:g.219210311T>CClinGen:CA10612438C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*680_*681dup25953PNKDBenignrs397775550RCV000278719; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210382219210383CCCTNC_000002.11:g.219210384_219210385dupClinGen:CA10614177C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*679C>T25953PNKDUncertain significancers1694809581RCV001137739; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210383219210383CT2:g.219210383C>T-
NM_015488.5(PNKD):c.*826G>T25953PNKDUncertain significancers772338538RCV000352361; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210530219210530GTNC_000002.11:g.219210530G>TClinGen:CA10612440C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*838C>T25953PNKDUncertain significancers560187472RCV000388215; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210542219210542CTNC_000002.11:g.219210542C>TClinGen:CA10614180C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*868T>C25953PNKDUncertain significancers998136972RCV001137740; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210572219210572TC2:g.219210572T>C-
NM_015488.5(PNKD):c.*902T>C25953PNKDBenignrs1052578RCV000294417; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210606219210606TCNC_000002.11:g.219210606T>CClinGen:CA10614313C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*982C>T25953PNKDBenignrs140903787RCV000349388; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210686219210686CTNC_000002.11:g.219210686C>TClinGen:CA10612812C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*992C>G25953PNKDBenignrs115429065RCV000397183; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210696219210696CGNC_000002.11:g.219210696C>GClinGen:CA10614182C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*1077G>A25953PNKDBenignrs9076RCV000309658; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210781219210781GANC_000002.11:g.219210781G>AClinGen:CA10614315C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*1118T>A25953PNKDUncertain significancers762512024RCV000345674; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210822219210822TANC_000002.11:g.219210822T>AClinGen:CA10614320C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*1139C>G25953PNKDBenignrs547847157RCV000399126; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210843219210843CGNC_000002.11:g.219210843C>GClinGen:CA10612441C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*1141G>A25953PNKDBenignrs577960985RCV000306029; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210845219210845GANC_000002.11:g.219210845G>AClinGen:CA10614183C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*1193C>T25953PNKDBenignrs76752438RCV000360792; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210897219210897CT2:g.219210897C>TClinGen:CA10612814C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*1216G>A25953PNKDUncertain significancers999439159RCV001140726; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219210920219210920GA2:g.219210920G>A-
NM_015488.5(PNKD):c.*1305A>G25953PNKDUncertain significancers1694825559RCV001140727; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211009219211009AG2:g.219211009A>G-
NM_015488.5(PNKD):c.*1476A>G25953PNKDUncertain significancers886055623RCV000264038; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211180219211180AGNC_000002.11:g.219211180A>GClinGen:CA10612815C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*1490G>A25953PNKDUncertain significancers971155594RCV001140728; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211194219211194GA2:g.219211194G>A-
NM_015488.5(PNKD):c.*1549G>A25953PNKDBenignrs79061826RCV001140729; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211253219211253GA2:g.219211253G>A-
NM_015488.5(PNKD):c.*1569C>T25953PNKDUncertain significancers1694830978RCV001140730; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211273219211273CT2:g.219211273C>T-
NM_015488.5(PNKD):c.*1665G>A25953PNKDBenignrs145193682RCV001140731; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211369219211369GA2:g.219211369G>A-
NM_015488.5(PNKD):c.*1723T>C25953PNKDBenignrs58320146RCV000300450; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211427219211427TCNC_000002.11:g.219211427T>CClinGen:CA10612816C1869117 118800 Paroxysmal choreoathetosis;
NM_015488.5(PNKD):c.*1725T>C25953PNKDBenignrs149172912RCV001142596; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211429219211429TC2:g.219211429T>C-
NM_015488.4(PNKD):c.*1821C>T25953PNKDLikely benignrs142330726RCV000306094; NMONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800, Orphanet:988102219211525219211525CT2:g.219211525C>TClinGen:CA10654618C1869117 118800 Paroxysmal choreoathetosis;
MSeqDR Portal