MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Parkinson Disease (D010300)
..Starting node
..expand
PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)

       Child Nodes:



 Sister Nodes: 
..expandAMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..expandParalysis Agitans, Juvenile, Of Hunt (C562469)
..expandPARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..expandParkinson Disease 10 (C564653)
..expandParkinson Disease 11 (C564345)
..expandPARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
..expandParkinson Disease 12 (C564486)
..expandParkinson Disease 13 (C565204)
..expandPARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..expandPARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..expandParkinson Disease 16 (C567726)
..expandPARKINSON DISEASE 17 (OMIM:614203)
..expandPARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
..expandPARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
..expandPARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
..expandPARKINSON DISEASE 21 (OMIM:616361)
..expandPARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
..expandPARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
..expandParkinson disease 3 (C537176)
..expandParkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..expandParkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..expandPARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
..expandParkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..expandParkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..expandPARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..expandParkinson Disease, Familial, Type 1 (C566823)
..expandPARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandParkinsonism, early onset with mental retardation (C537179)
..expandParkinsonism-Dystonia, Infantile (C567730)
..expandProgressive supranuclear palsy atypical (C537240)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9549
Name:PARKINSON DISEASE 19A, JUVENILE-ONSET
Definition:
Alternative IDs:DO:DOID:0060891
ParentIDs:MESH:D010300
TreeNumbers:C10.228.140.079.862.500/615528 |C10.228.662.600.400/615528 |C10.574.812/615528
Synonyms:PARK19A |PARK19B, INCLUDED |PARK19, FORMERLY PARKINSON DISEASE 19B, EARLY-ONSET, INCLUDED
Slim Mappings:Nervous system disease
Reference: MedGen: 615528
MeSH: 615528
OMIM: 615528;
MSeqDR LSDB:  
Genes: DNAJC6; PDHX;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007256Abnormal pyramidal signsHP:0040283
3 HP:0002067Bradykinesia
4 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0001332Dystonia
NAMDC:  Dystonia
HP:0040283
7 HP:0000738Hallucinations
8 HP:0000571Hypometric saccadesHP:0040283
9 HP:0001249Intellectual disabilityHP:0040283
10 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
11 HP:0002172Postural instability
12 HP:0003678Rapidly progressive
13 HP:0002063Rigidity
14 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
15 HP:0002362Shuffling gait
16 HP:0003677Slow progression
17 HP:0001257Spasticity
NAMDC:  Spasticity
18 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001256864.2(DNAJC6):c.32C>T (p.Thr11Ile)9829DNAJC6Uncertain significance-1RCV001996829; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577546065775460CT65775460-
NM_001256864.2(DNAJC6):c.101G>C (p.Gly34Ala)9829DNAJC6Uncertain significancers956622990RCV001301585; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577552965775529GC65775529-
NM_001256864.2(DNAJC6):c.119G>T (p.Arg40Ile)9829DNAJC6Uncertain significance-1RCV001958289; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577554765775547GT65775547-
NM_001256864.2(DNAJC6):c.144G>T (p.Arg48=)9829DNAJC6Likely benign-1RCV002198298; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577557265775572GT65775572-
NM_001256864.2(DNAJC6):c.154C>G (p.Arg52Gly)9829DNAJC6Uncertain significance-1RCV001934912; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577558265775582CG65775582-
NM_001256864.2(DNAJC6):c.164C>A (p.Pro55Gln)9829DNAJC6Uncertain significance-1RCV001987703; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577559265775592CA65775592-
NM_001256864.2(DNAJC6):c.170G>T (p.Arg57Leu)9829DNAJC6Uncertain significancers747115530RCV000823181; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577559865775598GT1:g.65775598G>T-
NM_001256864.2(DNAJC6):c.175A>G (p.Ser59Gly)9829DNAJC6Uncertain significancers1296532855RCV000794308; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577560365775603AG1:g.65775603A>G-
NM_001256864.2(DNAJC6):c.186C>T (p.Asp62=)9829DNAJC6Likely benignrs371984320RCV000875291; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577561465775614CT1:g.65775614C>T-
NM_001256864.2(DNAJC6):c.194-21G>T9829DNAJC6Benign-1RCV001668987|RCV002073123; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583029765830297GT65830297-
NM_001256864.2(DNAJC6):c.194-6del9829DNAJC6Benign-1RCV001534238|RCV002071918; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583029865830298GTG65830297-
NM_001256864.2(DNAJC6):c.194-20_194-19insG9829DNAJC6Benign/Likely benign-1RCV001669269|RCV002073138; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583029865830299TTG65830298-
NM_001256864.2(DNAJC6):c.194-19T>G9829DNAJC6Benign-1RCV001692835|RCV002073233; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583029965830299TG65830299-
NM_001256864.2(DNAJC6):c.194-18T>G9829DNAJC6Benign/Likely benign-1RCV001584012|RCV002070432; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583030065830300TG65830300-
NM_001256864.2(DNAJC6):c.194-17T>G9829DNAJC6Benign-1RCV002113065; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583030165830301TG65830301-
NM_001256864.2(DNAJC6):c.194-16T>G9829DNAJC6Likely benign-1RCV002199649; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583030265830302TG65830302-
NM_001256864.2(DNAJC6):c.194-13T>G9829DNAJC6Likely benign-1RCV002199707; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583030565830305TG65830305-
NM_001256864.2(DNAJC6):c.194-5G>T9829DNAJC6Likely benignrs753576283RCV000560357|RCV001550927; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN51720216583031365830313GTNC_000001.10:g.65830313G>TClinGen:CA893585C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.216G>A (p.Glu72=)9829DNAJC6Likely benign-1RCV002158728; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583034065830340GA65830340-
NM_001256864.2(DNAJC6):c.224A>G (p.Tyr75Cys)9829DNAJC6Uncertain significance-1RCV001907639; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583034865830348AG65830348-
NM_001256864.2(DNAJC6):c.264G>A (p.Gly88=)9829DNAJC6Likely benignrs139946043RCV000904644|RCV001426966; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583038865830388GA1:g.65830388G>A-
NM_001256864.2(DNAJC6):c.344+4C>T9829DNAJC6Uncertain significance-1RCV002006039; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583047265830472CT65830472-
NM_001256864.2(DNAJC6):c.397A>T (p.Met133Leu)9829DNAJC6Uncertain significancers61757223RCV000820961; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583173365831733AT1:g.65831733A>T-
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter)9829DNAJC6Pathogenicrs864622011RCV000204926|RCV000801660; NHuman Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583179065831790CTNC_000001.10:g.65831790C>TClinGen:CA349119C0376358 176807 Malignant tumor of prostate;
NM_001256864.2(DNAJC6):c.507A>G (p.Ser169=)9829DNAJC6Likely benign-1RCV001474859; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583184365831843AG65831843-
NM_001256864.2(DNAJC6):c.513G>A (p.Lys171=)9829DNAJC6Benignrs148204207RCV000876009; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583184965831849GA1:g.65831849G>A-
NM_001256864.2(DNAJC6):c.518A>G (p.Tyr173Cys)9829DNAJC6Uncertain significance-1RCV001890537; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583185465831854AG65831854-
NM_001256864.2(DNAJC6):c.521G>A (p.Arg174Gln)9829DNAJC6Uncertain significancers895749847RCV001048333; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583185765831857GA1:g.65831857G>A-
NM_001256864.2(DNAJC6):c.544-9C>T9829DNAJC6Benign-1RCV001522533|RCV001579584|RCV001647321; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN169374|MedGen:CN51720216584507665845076CT65845076-
NM_001256864.2(DNAJC6):c.666+10C>G9829DNAJC6Likely benign-1RCV002083372; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584521765845217CG65845217-
NM_001256864.2(DNAJC6):c.674G>A (p.Arg225Gln)9829DNAJC6Uncertain significancers772437036RCV001244696; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584988365849883GA1:g.65849883G>A-
NM_001256864.2(DNAJC6):c.677_678dup (p.Ala227fs)9829DNAJC6Pathogenic-1RCV001915434; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584988465849885GGGC65849884-
NM_001256864.2(DNAJC6):c.677C>T (p.Ala226Val)9829DNAJC6Uncertain significancers776225529RCV001204124; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584988665849886CT1:g.65849886C>T-
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=)9829DNAJC6Benign/Likely benignrs61753391RCV000550339|RCV001577635|RCV001727758; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN517202|MedGen:CN16937416584988765849887GANC_000001.10:g.65849887G>AClinGen:CA893735C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val)9829DNAJC6Benignrs149588872RCV000651848|RCV001672917; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN51720216584995465849954AG1:g.65849954A>GClinGen:CA893746C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.750A>T (p.Arg250=)9829DNAJC6Likely benign-1RCV001398074; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584995965849959AT65849959-
NM_001256864.2(DNAJC6):c.751T>C (p.Leu251=)9829DNAJC6Likely benign-1RCV002181649; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584996065849960TC65849960-
NM_001256864.2(DNAJC6):c.766C>T (p.Arg256Ter)9829DNAJC6Pathogenic-1RCV001420728; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584997565849975CT65849975-
NM_001256864.2(DNAJC6):c.801-14A>C9829DNAJC6Likely benign-1RCV002182220; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585138165851381AC65851381-
NM_001256864.2(DNAJC6):c.801-2A>G9829DNAJC6Pathogenicrs398122404RCV000074442|RCV001030777; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MONDO:MONDO:0014523,MedGen:C4015436,OMIM:616192, Orphanet:44506216585139365851393AGNC_000001.10:g.65851393A>GClinGen:CA145377,OMIM:608375.0001C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.809G>A (p.Gly270Asp)9829DNAJC6Uncertain significance-1RCV001955808; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585140365851403GA65851403-
NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr)9829DNAJC6Uncertain significance-1RCV001726756|RCV001882791; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585142365851423GA65851423-
NM_001256864.2(DNAJC6):c.833A>G (p.Asp278Gly)9829DNAJC6Uncertain significancers368290134RCV000651846; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585142765851427AG1:g.65851427A>GClinGen:CA893773C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.839C>T (p.Pro280Leu)9829DNAJC6Uncertain significance-1RCV001898599; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585143365851433CT65851433-
NM_001256864.2(DNAJC6):c.844C>T (p.Arg282Cys)9829DNAJC6Uncertain significance-1RCV002037499; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585143865851438CT65851438-
NM_001256864.2(DNAJC6):c.897C>G (p.Pro299=)9829DNAJC6Likely benign-1RCV002219154; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585149165851491CG65851491-
NM_001256864.2(DNAJC6):c.926G>A (p.Arg309His)9829DNAJC6Uncertain significancers757458350RCV001046878; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585152065851520GA1:g.65851520G>A-
NM_001256864.2(DNAJC6):c.973T>C (p.Cys325Arg)9829DNAJC6Uncertain significance-1RCV002015838; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585156765851567TC65851567-
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter)9829DNAJC6Pathogenicrs1645867120RCV001254068; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585158265851582CT1:g.65851582C>T-
NM_001256864.2(DNAJC6):c.992T>C (p.Met331Thr)9829DNAJC6Uncertain significance-1RCV001921222; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585158665851586TC65851586-
NM_001256864.2(DNAJC6):c.995+16T>C9829DNAJC6Likely benign-1RCV002079859; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585160565851605TC65851605-
NM_001256864.2(DNAJC6):c.996-9T>C9829DNAJC6Benignrs187965193RCV000651849; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585248665852486TC1:g.65852486T>CClinGen:CA893814C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val)9829DNAJC6Uncertain significancers200712827RCV000761660|RCV000798987; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585253865852538AGNC_000001.10:g.65852538A>G-
NM_001256864.2(DNAJC6):c.1070T>C (p.Met357Thr)9829DNAJC6Uncertain significance-1RCV001532065|RCV001882588; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585256965852569TC65852569-
NM_001256864.2(DNAJC6):c.1113G>A (p.Lys371=)9829DNAJC6Uncertain significance-1RCV001878536; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585261265852612GA65852612-
NC_000001.11:g.(?_65388326)_(65413035_?)dup9829DNAJC6Uncertain significance-1RCV001031524; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585400965878718nana-1-
NM_001256864.2(DNAJC6):c.1182A>G (p.Leu394=)9829DNAJC6Likely benignrs148145327RCV000877574; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585408765854087AG1:g.65854087A>G-
NM_001256864.2(DNAJC6):c.1194-9C>G9829DNAJC6Likely benignrs370864885RCV000877613|RCV001419289; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585493065854930CG1:g.65854930C>G-
NM_001256864.2(DNAJC6):c.1266A>T (p.Leu422=)9829DNAJC6Benignrs61758427RCV000874504|RCV002064765; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585501165855011AT1:g.65855011A>T-
NM_001256864.2(DNAJC6):c.1269G>A (p.Gln423=)9829DNAJC6Likely benign-1RCV002110427; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585501465855014GA65855014-
NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=)9829DNAJC6Benign/Likely benignrs142136708RCV000871141|RCV001593092; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN51720216585506565855065AT1:g.65855065A>T-
NM_001256864.2(DNAJC6):c.1348T>G (p.Ser450Ala)9829DNAJC6Uncertain significance-1RCV001877844; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585509365855093TG65855093-
NM_001256864.2(DNAJC6):c.1350T>C (p.Ser450=)9829DNAJC6Likely benignrs202109326RCV000877205; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585509565855095TC1:g.65855095T>C-
NM_001256864.2(DNAJC6):c.1374G>A (p.Thr458=)9829DNAJC6Likely benignrs148673423RCV000875314; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585511965855119GA1:g.65855119G>A-
NM_001256864.2(DNAJC6):c.1446C>A (p.Phe482Leu)9829DNAJC6Uncertain significance-1RCV001930315; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585528865855288CA65855288-
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)9829DNAJC6Benign/Likely benignrs78141380RCV000514540|RCV001083387; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585529865855298CT1:g.65855298C>TClinGen:CA893922CN517202 not provided;
NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser)9829DNAJC6Conflicting interpretations of pathogenicityrs145329294RCV000873790|RCV001090221; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN51720216585813765858137TA1:g.65858137T>A-
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=)9829DNAJC6Benign-1RCV001522534|RCV001579827|RCV001595090; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN169374|MedGen:CN51720216585814565858145GA65858145-
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=)9829DNAJC6Benign-1RCV001516087|RCV001579910|RCV001727862; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN517202|MedGen:CN16937416585815165858151CT65858151-
NM_001256864.2(DNAJC6):c.1533G>A (p.Glu511=)9829DNAJC6Likely benign-1RCV002194132; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585817865858178GA65858178-
NM_001256864.2(DNAJC6):c.1577A>G (p.Asn526Ser)9829DNAJC6Likely benignrs191459935RCV000877572; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585822265858222AG1:g.65858222A>G-
NM_001256864.2(DNAJC6):c.1607A>G (p.Lys536Arg)9829DNAJC6Uncertain significance-1RCV001883655; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585825265858252AG65858252-
NM_001256864.2(DNAJC6):c.1646C>T (p.Pro549Leu)9829DNAJC6Uncertain significance-1RCV001952136; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585829165858291CT65858291-
NM_001256864.2(DNAJC6):c.1651C>A (p.Pro551Thr)9829DNAJC6Uncertain significance-1RCV001883162; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585829665858296CA65858296-
NM_001256864.2(DNAJC6):c.1666C>T (p.Leu556Phe)9829DNAJC6Uncertain significance-1RCV001982527; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585831165858311CT65858311-
NM_001256864.2(DNAJC6):c.1709C>T (p.Pro570Leu)9829DNAJC6Uncertain significance-1RCV001920876; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585835465858354CT65858354-
NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=)9829DNAJC6Benign/Likely benignrs7551930RCV000873567|RCV001593095; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN51720216585835565858355GA1:g.65858355G>A-
NM_001256864.2(DNAJC6):c.1715C>T (p.Ala572Val)9829DNAJC6Uncertain significance-1RCV001881222; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585836065858360CT65858360-
NM_001256864.2(DNAJC6):c.1716G>A (p.Ala572=)9829DNAJC6Uncertain significance-1RCV001937880; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585836165858361GA65858361-
NM_001256864.2(DNAJC6):c.1755T>C (p.Phe585=)9829DNAJC6Likely benign-1RCV002155693; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585840065858400TC65858400-
NM_001256864.2(DNAJC6):c.1794G>C (p.Gln598His)9829DNAJC6Uncertain significance-1RCV001978361; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585843965858439GC65858439-
NM_001256864.2(DNAJC6):c.1831G>A (p.Ala611Thr)9829DNAJC6Uncertain significancers1015326337RCV001325088; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585847665858476GA65858476-
NM_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val)9829DNAJC6Uncertain significance-1RCV002034299; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585847765858477CT65858477-
NM_001256864.2(DNAJC6):c.1845A>G (p.Ser615=)9829DNAJC6Likely benign-1RCV002140637; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585849065858490AG65858490-
NM_001256864.2(DNAJC6):c.1852C>T (p.Arg618Cys)9829DNAJC6Uncertain significance-1RCV001924418; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585849765858497CT65858497-
NM_001256864.2(DNAJC6):c.1856G>A (p.Arg619His)9829DNAJC6Uncertain significance-1RCV001886444; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585850165858501GA65858501-
NM_001256864.2(DNAJC6):c.1877C>T (p.Ala626Val)9829DNAJC6Uncertain significance-1RCV001921304; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585852265858522CT65858522-
NM_001256864.2(DNAJC6):c.1904-12A>G9829DNAJC6Likely benign-1RCV002093880; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586056965860569AG65860569-
NM_001256864.2(DNAJC6):c.1982G>A (p.Ser661Asn)9829DNAJC6Uncertain significance-1RCV001929462; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586065965860659GA65860659-
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=)9829DNAJC6Benign-1RCV001516088|RCV001579586|RCV001727863; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN517202|MedGen:CN16937416586066065860660TC65860660-
NM_001256864.2(DNAJC6):c.1990A>G (p.Ser664Gly)9829DNAJC6Uncertain significance-1RCV001947622; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586066765860667AG65860667-
NM_001256864.2(DNAJC6):c.2003T>A (p.Leu668His)9829DNAJC6Uncertain significance-1RCV001986391; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586068065860680TA65860680-
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=)9829DNAJC6Benign-1RCV001522535|RCV001579963|RCV001615216; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN169374|MedGen:CN51720216586068765860687AC65860687-
NM_001256864.2(DNAJC6):c.2020C>T (p.Pro674Ser)9829DNAJC6Uncertain significancers749594846RCV001225605; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586069765860697CT1:g.65860697C>T-
NM_001256864.2(DNAJC6):c.2025G>T (p.Ser675=)9829DNAJC6Likely benignrs185245369RCV000536385|RCV001442111; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586070265860702GTNC_000001.10:g.65860702G>TClinGen:CA418217345C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2038+3A>G9829DNAJC6Pathogenic-1RCV001420732; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586071865860718AG65860718-
NM_001256864.2(DNAJC6):c.2044A>G (p.Ser682Gly)9829DNAJC6Uncertain significancers145175543RCV001056432; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586450165864501AG1:g.65864501A>G-
NM_001256864.2(DNAJC6):c.2072A>G (p.Asp691Gly)9829DNAJC6Uncertain significance-1RCV001885956; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586452965864529AG65864529-
NM_001256864.2(DNAJC6):c.2086T>C (p.Trp696Arg)9829DNAJC6Uncertain significancers1462099424RCV000549185; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586454365864543TCNC_000001.10:g.65864543T>CClinGen:CA340691622C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2107+3A>G9829DNAJC6Uncertain significance-1RCV001909431; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586456765864567AG65864567-
NM_001256864.2(DNAJC6):c.2107+8_2107+10del9829DNAJC6Uncertain significance-1RCV002018008; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586457065864572AAGCA65864569-
NM_001256864.2(DNAJC6):c.2151C>T (p.Thr717=)9829DNAJC6Likely benignrs145501615RCV000882127|RCV001438544; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586748765867487CT1:g.65867487C>T-
NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu)9829DNAJC6Likely benign-1RCV001559992|RCV002072122; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586749565867495CT65867495-
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn)9829DNAJC6Benign-1RCV001516089|RCV001579333|RCV001727864; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN517202|MedGen:CN16937416586751965867519GA65867519-
NM_001256864.2(DNAJC6):c.2212G>A (p.Asp738Asn)9829DNAJC6Uncertain significance-1RCV001893576; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586754865867548GA65867548-
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=)9829DNAJC6Pathogenicrs879255554RCV000239573|RCV001420733; NMedGen:CN237819|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586755965867559AT1:g.65867559A>TClinGen:CA10586195,OMIM:608375.0004CN237819 Parkinson disease 19b, early-onset;
NM_001256864.2(DNAJC6):c.2228-17T>A9829DNAJC6Likely benign-1RCV002129551; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587153665871536TA65871536-
NM_001256864.2(DNAJC6):c.2228-3T>C9829DNAJC6Uncertain significancers753885398RCV000803540; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587155065871550TC1:g.65871550T>C-
NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser)9829DNAJC6Likely benignrs113143702RCV000873884; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587157965871579AT1:g.65871579A>T-
NM_001256864.2(DNAJC6):c.2255C>T (p.Thr752Ile)9829DNAJC6Uncertain significance-1RCV001990766; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587158065871580CT65871580-
NM_001256864.2(DNAJC6):c.2290C>T (p.Leu764Phe)9829DNAJC6Uncertain significancers917235831RCV000525164; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587161565871615CT1:g.65871615C>TClinGen:CA24366754C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2298G>A (p.Ser766=)9829DNAJC6Likely benignrs540477402RCV000921920|RCV001407824; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587162365871623GA1:g.65871623G>A-
NM_001256864.2(DNAJC6):c.2310G>A (p.Ala770=)9829DNAJC6Likely benignrs113490907RCV000945410|RCV001472365; NMedGen:CN517202|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587163565871635GA1:g.65871635G>A-
NM_001256864.2(DNAJC6):c.2331C>T (p.Gly777=)9829DNAJC6Benign-1RCV002205585; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587165665871656CT65871656-
NM_001256864.2(DNAJC6):c.2365C>T (p.Gln789Ter)9829DNAJC6Pathogenic-1RCV001420730; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587169065871690CT65871690-
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter)9829DNAJC6Pathogenicrs398122405RCV000074443; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587173565871735CT1:g.65871735C>TClinGen:CA145378,OMIM:608375.0002C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2416C>T (p.Arg806Ter)9829DNAJC6Pathogenic-1RCV001420729; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587174165871741CT65871741-
NM_001256864.2(DNAJC6):c.2443G>T (p.Ala815Ser)9829DNAJC6Uncertain significance-1RCV002012539; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587176865871768GT65871768-
NM_001256864.2(DNAJC6):c.2456dup (p.Gln820fs)9829DNAJC6Pathogenic-1RCV001993208; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587177665871777TTG65871776-
NM_001256864.2(DNAJC6):c.2463C>T (p.Asn821=)9829DNAJC6Likely benign-1RCV002134694; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587178865871788CT65871788-
NM_001256864.2(DNAJC6):c.2468G>C (p.Arg823Pro)9829DNAJC6Uncertain significancers201984806RCV000689636; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587179365871793GC1:g.65871793G>C-C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His)9829DNAJC6Uncertain significancers201984806RCV001067504; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587179365871793GA1:g.65871793G>A-
NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter)9829DNAJC6Pathogenicrs886039854RCV000256354; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587436865874368CT1:g.65874368C>TClinGen:CA10588903,OMIM:608375.0005C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2687C>T (p.Thr896Met)9829DNAJC6Pathogenic-1RCV001420734; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587698565876985CT65876985-
NM_001256864.2(DNAJC6):c.2697C>T (p.Thr899=)9829DNAJC6Likely benign-1RCV002164382; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587699565876995CT65876995-
NM_001256864.2(DNAJC6):c.2715G>C (p.Glu905Asp)9829DNAJC6Uncertain significance-1RCV001935707; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587701365877013GC65877013-
NM_001256864.2(DNAJC6):c.2762A>T (p.Gln921Leu)9829DNAJC6Uncertain significance-1RCV001918287; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587706065877060AT65877060-
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly)9829DNAJC6Pathogenicrs879255630RCV000239521|RCV001420731; NMedGen:CN237819|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587707765877077AGNC_000001.10:g.65877077A>GClinGen:CA10586194,OMIM:608375.0003CN237819 Parkinson disease 19b, early-onset;
NM_001256864.2(DNAJC6):c.2799G>A (p.Val933=)9829DNAJC6Likely benign-1RCV001500100; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587709765877097GA65877097-
NM_001256864.2(DNAJC6):c.2838C>T (p.Tyr946=)9829DNAJC6Likely benignrs148209150RCV000537857; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587863365878633CTNC_000001.10:g.65878633C>TClinGen:CA894252C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2839G>A (p.Ala947Thr)9829DNAJC6Uncertain significance-1RCV001982138; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587863465878634GA65878634-
NM_001256864.2(DNAJC6):c.2873G>T (p.Trp958Leu)9829DNAJC6Uncertain significance-1RCV001994218; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587866865878668GT65878668-
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