MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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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 significance2101357416RCV001996829; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111657754606577546065775460-
NM_001256864.2(DNAJC6):c.79G>T (p.Asp27Tyr)9829DNAJC6Uncertain significance-1RCV003080651; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577550765775507NC_000001.10:g.65775507G>T-
NM_001256864.2(DNAJC6):c.83T>C (p.Leu28Ser)9829DNAJC6Uncertain significance-1RCV002975812; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577551165775511NC_000001.10:g.65775511T>C-
NM_001256864.2(DNAJC6):c.101G>C (p.Gly34Ala)9829DNAJC6Uncertain significance956622990RCV001301585; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111657755296577552965775529-
NM_001256864.2(DNAJC6):c.117G>A (p.Gln39=)9829DNAJC6Likely benign-1RCV002654921; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577554565775545-
NM_001256864.2(DNAJC6):c.119G>T (p.Arg40Ile)9829DNAJC6Uncertain significance754115488RCV001958289; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111657755476577554765775547-
NM_001256864.2(DNAJC6):c.128C>T (p.Ala43Val)9829DNAJC6Uncertain significance-1RCV003021638; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577555665775556NC_000001.10:g.65775556C>T-
NM_001256864.2(DNAJC6):c.144G>T (p.Arg48=)9829DNAJC6Likely benign779540362RCV002198298|RCV003408163; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C36619001657755726577557265775572-
NM_001256864.2(DNAJC6):c.149C>T (p.Pro50Leu)9829DNAJC6Uncertain significance-1RCV002644087; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577557765775577NC_000001.10:g.65775577C>T-
NM_001256864.2(DNAJC6):c.154C>G (p.Arg52Gly)9829DNAJC6Uncertain significance547312338RCV001934912; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111657755826577558265775582-
NM_001256864.2(DNAJC6):c.156A>G (p.Arg52=)9829DNAJC6Likely benign-1RCV002890427; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116577558465775584-
NM_001256864.2(DNAJC6):c.164C>A (p.Pro55Gln)9829DNAJC6Uncertain significance916872480RCV001987703; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111657755926577559265775592-
NM_001256864.2(DNAJC6):c.170G>T (p.Arg57Leu)9829DNAJC6Uncertain significance747115530RCV000823181; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165775598657755981:g.65775598G>T-
NM_001256864.2(DNAJC6):c.175A>G (p.Ser59Gly)9829DNAJC6Uncertain significance1296532855RCV000794308; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165775603657756031:g.65775603A>G-
NM_001256864.2(DNAJC6):c.186C>T (p.Asp62=)9829DNAJC6Likely benign371984320RCV000875291; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165775614657756141:g.65775614C>T-
NM_001256864.2(DNAJC6):c.194-21G>T9829DNAJC6Benign2296478RCV001668987|RCV002073123; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658302976583029765830297-
NM_001256864.2(DNAJC6):c.194-6del9829DNAJC6Benign58549467RCV001534238|RCV002071918; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658302986583029865830297-
NM_001256864.2(DNAJC6):c.194-20_194-19insG9829DNAJC6Benign/Likely benign111346712RCV001669269|RCV002073138; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658302986583029965830298-
NM_001256864.2(DNAJC6):c.194-19T>G9829DNAJC6Benign2296479RCV001692835|RCV002073233; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658302996583029965830299-
NM_001256864.2(DNAJC6):c.194-18T>G9829DNAJC6Benign/Likely benign201249130RCV001584012|RCV002070432; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658303006583030065830300-
NM_001256864.2(DNAJC6):c.194-17T>G9829DNAJC6Benign372128441RCV002113065; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658303016583030165830301-
NM_001256864.2(DNAJC6):c.194-16T>G9829DNAJC6Likely benign772643958RCV002199649; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658303026583030265830302-
NM_001256864.2(DNAJC6):c.194-15T>G9829DNAJC6Likely benign-1RCV002685826; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583030365830303NC_000001.10:g.65830303T>G-
NM_001256864.2(DNAJC6):c.194-13T>G9829DNAJC6Likely benign765899995RCV002199707; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658303056583030565830305-
NM_001256864.2(DNAJC6):c.194-5G>T9829DNAJC6Likely benign753576283RCV000560357|RCV001550927; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN51720216583031365830313NC_000001.10:g.65830313G>TClinGen:CA893585C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.198C>T (p.Ala66=)9829DNAJC6Likely benign374727491RCV003103873; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165830322658303221:g.65830322C>T-
NM_001256864.2(DNAJC6):c.216G>A (p.Glu72=)9829DNAJC6Likely benign146062011RCV002158728; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658303406583034065830340-
NM_001256864.2(DNAJC6):c.224A>G (p.Tyr75Cys)9829DNAJC6Uncertain significance1394529150RCV001907639; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658303486583034865830348-
NM_001256864.2(DNAJC6):c.264G>A (p.Gly88=)9829DNAJC6Likely benign139946043RCV001426966; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165830388658303881:g.65830388G>A-
NM_001256864.2(DNAJC6):c.270C>T (p.Leu90=)9829DNAJC6Likely benign-1RCV003079708; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583039465830394-
NM_001256864.2(DNAJC6):c.344+4C>T9829DNAJC6Uncertain significance561389842RCV002006039; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658304726583047265830472-
NM_001256864.2(DNAJC6):c.344+6C>T9829DNAJC6Uncertain significance-1RCV002765810; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583047465830474NC_000001.10:g.65830474C>T-
NM_001256864.2(DNAJC6):c.397A>T (p.Met133Leu)9829DNAJC6Uncertain significance61757223RCV000820961|RCV002537484; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C0950123165831733658317331:g.65831733A>T-
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter)9829DNAJC6Pathogenic864622011RCV000204926|RCV000801660; NHuman Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583179065831790NC_000001.10:g.65831790C>TClinGen:CA349119C0376358 176807 Malignant tumor of prostate;
NM_001256864.2(DNAJC6):c.507A>G (p.Ser169=)9829DNAJC6Likely benign2101558882RCV001474859; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658318436583184365831843-
NM_001256864.2(DNAJC6):c.513G>A (p.Lys171=)9829DNAJC6Benign148204207RCV000876009; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165831849658318491:g.65831849G>A-
NM_001256864.2(DNAJC6):c.518A>G (p.Tyr173Cys)9829DNAJC6Uncertain significance1428381539RCV001890537; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658318546583185465831854-
NM_001256864.2(DNAJC6):c.521G>A (p.Arg174Gln)9829DNAJC6Uncertain significance895749847RCV001048333; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165831857658318571:g.65831857G>A-
NM_001256864.2(DNAJC6):c.542G>A (p.Arg181Gln)9829DNAJC6Uncertain significance-1RCV002909200; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583187865831878NC_000001.10:g.65831878G>A-
NM_001256864.2(DNAJC6):c.543+10T>G9829DNAJC6Likely benign-1RCV002635916; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116583188965831889NC_000001.10:g.65831889T>G-
NM_001256864.2(DNAJC6):c.544-20C>T9829DNAJC6Benign-1RCV002589495; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584506565845065NC_000001.10:g.65845065C>T-
NM_001256864.2(DNAJC6):c.544-9C>T9829DNAJC6Benign2296481RCV001522533|RCV001579584|RCV001647321; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN169374|MedGen:C36619001658450766584507665845076-
NM_001256864.2(DNAJC6):c.666+1G>A9829DNAJC6Likely pathogenic-1RCV003028242; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584520865845208NC_000001.10:g.65845208G>A-
NM_001256864.2(DNAJC6):c.666+10C>G9829DNAJC6Likely benign373591833RCV002083372; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658452176584521765845217-
NC_000001.10:g.(?_65849856)_(65855330_?)dup9829DNAJC6Uncertain significance-1RCV003105723; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584985665855330-
NM_001256864.2(DNAJC6):c.674G>A (p.Arg225Gln)9829DNAJC6Uncertain significance772437036RCV001244696; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165849883658498831:g.65849883G>A-
NM_001256864.2(DNAJC6):c.677_678dup (p.Ala227fs)9829DNAJC6Pathogenic1645848679RCV001915434; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658498846584988565849884-
NM_001256864.2(DNAJC6):c.677C>T (p.Ala226Val)9829DNAJC6Uncertain significance776225529RCV001204124; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165849886658498861:g.65849886C>T-
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=)9829DNAJC6Benign/Likely benign61753391RCV000550339|RCV001727758|RCV001577635; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN169374|MedGen:C366190016584988765849887NC_000001.10:g.65849887G>AClinGen:CA893735C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.700G>A (p.Ala234Thr)9829DNAJC6Uncertain significance-1RCV002995364; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116584990965849909NC_000001.10:g.65849909G>A-
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val)9829DNAJC6Benign/Likely benign149588872RCV000651848|RCV001672917; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C3661900165849954658499541:g.65849954A>GClinGen:CA893746C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.750A>T (p.Arg250=)9829DNAJC6Likely benign2101597985RCV001398074; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658499596584995965849959-
NM_001256864.2(DNAJC6):c.751T>C (p.Leu251=)9829DNAJC6Likely benign755098010RCV002181649; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658499606584996065849960-
NM_001256864.2(DNAJC6):c.766C>T (p.Arg256Ter)9829DNAJC6not provided745630837RCV001420728; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658499756584997565849975-
NM_001256864.2(DNAJC6):c.801-14A>C9829DNAJC6Likely benign758557034RCV002182220; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658513816585138165851381-
NM_001256864.2(DNAJC6):c.801-2A>G9829DNAJC6Pathogenic398122404RCV000074442|RCV001030777; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MONDO:MONDO:0014523,MedGen:C4015436,OMIM:616192, Orphanet:44506216585139365851393NC_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 significance1645865223RCV001955808; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658514036585140365851403-
NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr)9829DNAJC6Uncertain significance146050826RCV001726756|RCV001882791; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658514236585142365851423-
NM_001256864.2(DNAJC6):c.833A>G (p.Asp278Gly)9829DNAJC6Uncertain significance368290134RCV000651846; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165851427658514271:g.65851427A>GClinGen:CA893773C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.839C>T (p.Pro280Leu)9829DNAJC6Uncertain significance774319050RCV001898599; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658514336585143365851433-
NM_001256864.2(DNAJC6):c.844C>T (p.Arg282Cys)9829DNAJC6Uncertain significance141833490RCV002037499; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658514386585143865851438-
NM_001256864.2(DNAJC6):c.845G>A (p.Arg282His)9829DNAJC6Benign-1RCV002685574; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585143965851439NC_000001.10:g.65851439G>A-
NM_001256864.2(DNAJC6):c.876G>A (p.Ser292=)9829DNAJC6Likely benign-1RCV002958477; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585147065851470-
NM_001256864.2(DNAJC6):c.897C>G (p.Pro299=)9829DNAJC6Likely benign371261372RCV002219154; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658514916585149165851491-
NM_001256864.2(DNAJC6):c.926G>A (p.Arg309His)9829DNAJC6Uncertain significance757458350RCV001046878; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165851520658515201:g.65851520G>A-
NM_001256864.2(DNAJC6):c.973T>C (p.Cys325Arg)9829DNAJC6Uncertain significance1436860964RCV002015838; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658515676585156765851567-
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter)9829DNAJC6Pathogenic1645867120RCV001254068; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165851582658515821:g.65851582C>T-
NM_001256864.2(DNAJC6):c.992T>C (p.Met331Thr)9829DNAJC6Uncertain significance760136045RCV001921222; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658515866585158665851586-
NM_001256864.2(DNAJC6):c.995+16T>C9829DNAJC6Likely benign1254823370RCV002079859; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658516056585160565851605-
NM_001256864.2(DNAJC6):c.996-9T>C9829DNAJC6Benign187965193RCV000651849; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165852486658524861:g.65852486T>CClinGen:CA893814C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.1012G>C (p.Asp338His)9829DNAJC6Uncertain significance-1RCV002710630; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585251165852511NC_000001.10:g.65852511G>C-
NM_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val)9829DNAJC6Uncertain significance200712827RCV000761660|RCV000798987; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585253865852538NC_000001.10:g.65852538A>G-
NM_001256864.2(DNAJC6):c.1041C>A (p.Ile347=)9829DNAJC6Benign-1RCV002662533; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585254065852540-
NM_001256864.2(DNAJC6):c.1070T>C (p.Met357Thr)9829DNAJC6Uncertain significance201840876RCV001532065|RCV001882588|RCV002568202; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C09501231658525696585256965852569-
NM_001256864.2(DNAJC6):c.1113G>A (p.Lys371=)9829DNAJC6Uncertain significance144924736RCV001878536; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658526126585261265852612-
NM_001256864.2(DNAJC6):c.1182A>G (p.Leu394=)9829DNAJC6Likely benign148145327RCV000877574|RCV003411869; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C3661900165854087658540871:g.65854087A>G-
NM_001256864.2(DNAJC6):c.1194-9C>G9829DNAJC6Likely benign370864885RCV001419289; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165854930658549301:g.65854930C>G-
NM_001256864.2(DNAJC6):c.1266A>T (p.Leu422=)9829DNAJC6Benign61758427RCV002064765; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165855011658550111:g.65855011A>T-
NM_001256864.2(DNAJC6):c.1269G>A (p.Gln423=)9829DNAJC6Likely benign2101607355RCV002110427; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658550146585501465855014-
NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=)9829DNAJC6Benign/Likely benign142136708RCV000871141|RCV001593092; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C3661900165855065658550651:g.65855065A>T-
NM_001256864.2(DNAJC6):c.1348T>G (p.Ser450Ala)9829DNAJC6Uncertain significance1645902989RCV001877844; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658550936585509365855093-
NM_001256864.2(DNAJC6):c.1350T>C (p.Ser450=)9829DNAJC6Likely benign202109326RCV000877205; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165855095658550951:g.65855095T>C-
NM_001256864.2(DNAJC6):c.1374G>A (p.Thr458=)9829DNAJC6Likely benign148673423RCV000875314; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165855119658551191:g.65855119G>A-
NM_001256864.2(DNAJC6):c.1388-18G>A9829DNAJC6Uncertain significance-1RCV003108616; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585521265855212NC_000001.10:g.65855212G>A-
NM_001256864.2(DNAJC6):c.1431C>T (p.Tyr477=)9829DNAJC6Likely benign-1RCV002923721; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585527365855273-
NM_001256864.2(DNAJC6):c.1446C>A (p.Phe482Leu)9829DNAJC6Uncertain significance1645906223RCV001930315; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658552886585528865855288-
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)9829DNAJC6Benign/Likely benign78141380RCV000514540|RCV001083387; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165855298658552981:g.65855298C>TClinGen:CA893922CN517202 not provided;
NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser)9829DNAJC6Conflicting interpretations of pathogenicity145329294RCV000873790|RCV001090221; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C3661900165858137658581371:g.65858137T>A-
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=)9829DNAJC6Benign4325172RCV001522534|RCV001579827|RCV001595090; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN169374|MedGen:C36619001658581456585814565858145-
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=)9829DNAJC6Benign11208644RCV001516087|RCV001579910|RCV001727862; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C3661900|MedGen:CN1693741658581516585815165858151-
NM_001256864.2(DNAJC6):c.1533G>A (p.Glu511=)9829DNAJC6Likely benign773744229RCV002194132; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658581786585817865858178-
NM_001256864.2(DNAJC6):c.1577A>G (p.Asn526Ser)9829DNAJC6Likely benign191459935RCV000877572; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165858222658582221:g.65858222A>G-
NM_001256864.2(DNAJC6):c.1607A>G (p.Lys536Arg)9829DNAJC6Uncertain significance376992397RCV001883655; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658582526585825265858252-
NM_001256864.2(DNAJC6):c.1646C>T (p.Pro549Leu)9829DNAJC6Uncertain significance1230286867RCV001952136|RCV002557786; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C09501231658582916585829165858291-
NM_001256864.2(DNAJC6):c.1651C>A (p.Pro551Thr)9829DNAJC6Uncertain significance377495314RCV001883162; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658582966585829665858296-
NM_001256864.2(DNAJC6):c.1662G>A (p.Val554=)9829DNAJC6Likely benign-1RCV002710743; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585830765858307-
NM_001256864.2(DNAJC6):c.1666C>T (p.Leu556Phe)9829DNAJC6Uncertain significance1262741318RCV001982527; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658583116585831165858311-
NM_001256864.2(DNAJC6):c.1709C>T (p.Pro570Leu)9829DNAJC6Uncertain significance751850074RCV001920876; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658583546585835465858354-
NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=)9829DNAJC6Benign/Likely benign7551930RCV000873567|RCV001593095; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C3661900165858355658583551:g.65858355G>A-
NM_001256864.2(DNAJC6):c.1715C>T (p.Ala572Val)9829DNAJC6Conflicting interpretations of pathogenicity141779215RCV001881222|RCV002552782; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C09501231658583606585836065858360-
NM_001256864.2(DNAJC6):c.1716G>A (p.Ala572=)9829DNAJC6Uncertain significance201766287RCV001937880; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658583616585836165858361-
NM_001256864.2(DNAJC6):c.1741C>G (p.Leu581Val)9829DNAJC6Uncertain significance-1RCV003021985; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585838665858386NC_000001.10:g.65858386C>G-
NM_001256864.2(DNAJC6):c.1755T>C (p.Phe585=)9829DNAJC6Likely benign1412214392RCV002155693; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658584006585840065858400-
NM_001256864.2(DNAJC6):c.1794G>C (p.Gln598His)9829DNAJC6Uncertain significance2101614376RCV001978361; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658584396585843965858439-
NM_001256864.2(DNAJC6):c.1817A>C (p.His606Pro)9829DNAJC6Uncertain significance199937139RCV000761661|RCV002533876; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585846265858462NC_000001.10:g.65858462A>C-
NM_001256864.2(DNAJC6):c.1819C>A (p.Pro607Thr)9829DNAJC6Uncertain significance-1RCV002592684; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585846465858464NC_000001.10:g.65858464C>A-
NM_001256864.2(DNAJC6):c.1824T>C (p.Ser608=)9829DNAJC6Likely benign-1RCV002592176; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585846965858469-
NM_001256864.2(DNAJC6):c.1831G>A (p.Ala611Thr)9829DNAJC6Uncertain significance1015326337RCV001325088; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658584766585847665858476-
NM_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val)9829DNAJC6Uncertain significance375368522RCV002034299|RCV002549014; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C09501231658584776585847765858477-
NM_001256864.2(DNAJC6):c.1841A>G (p.Gln614Arg)9829DNAJC6Uncertain significance-1RCV002919068|RCV002922484; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585848665858486NC_000001.10:g.65858486A>G-
NM_001256864.2(DNAJC6):c.1845A>G (p.Ser615=)9829DNAJC6Likely benign2101614479RCV002140637; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658584906585849065858490-
NM_001256864.2(DNAJC6):c.1852C>T (p.Arg618Cys)9829DNAJC6Uncertain significance377366345RCV001924418; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658584976585849765858497-
NM_001256864.2(DNAJC6):c.1856G>A (p.Arg619His)9829DNAJC6Uncertain significance139509177RCV001886444|RCV003348567; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C09501231658585016585850165858501-
NM_001256864.2(DNAJC6):c.1877C>T (p.Ala626Val)9829DNAJC6Uncertain significance761922985RCV001921304; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658585226585852265858522-
NM_001256864.2(DNAJC6):c.1894G>C (p.Val632Leu)9829DNAJC6Uncertain significance-1RCV002741553; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116585853965858539NC_000001.10:g.65858539G>C-
NM_001256864.2(DNAJC6):c.1904-12A>G9829DNAJC6Likely benign774888599RCV002093880; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658605696586056965860569-
NM_001256864.2(DNAJC6):c.1974C>T (p.Asn658=)9829DNAJC6Likely benign-1RCV002976214; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586065165860651-
NM_001256864.2(DNAJC6):c.1982G>A (p.Ser661Asn)9829DNAJC6Uncertain significance2101618114RCV001929462; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658606596586065965860659-
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=)9829DNAJC6Benign12077111RCV001516088|RCV001579586|RCV001727863; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C3661900|MedGen:CN1693741658606606586066065860660-
NM_001256864.2(DNAJC6):c.1990A>G (p.Ser664Gly)9829DNAJC6Uncertain significance986073706RCV001947622; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658606676586066765860667-
NM_001256864.2(DNAJC6):c.2003T>A (p.Leu668His)9829DNAJC6Uncertain significance1363537326RCV001986391; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658606806586068065860680-
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=)9829DNAJC6Benign4582839RCV001522535|RCV001579963|RCV001615216; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:CN169374|MedGen:C36619001658606876586068765860687-
NM_001256864.2(DNAJC6):c.2020C>T (p.Pro674Ser)9829DNAJC6Uncertain significance749594846RCV001225605; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165860697658606971:g.65860697C>T-
NM_001256864.2(DNAJC6):c.2025G>T (p.Ser675=)9829DNAJC6Likely benign185245369RCV001442111; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586070265860702NC_000001.10:g.65860702G>TClinGen:CA418217345C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2025G>A (p.Ser675=)9829DNAJC6Benign-1RCV002927539; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586070265860702-
NM_001256864.2(DNAJC6):c.2038+3A>G9829DNAJC6Uncertain significance961974767RCV001420732; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658607186586071865860718-
NM_001256864.2(DNAJC6):c.2044A>G (p.Ser682Gly)9829DNAJC6Uncertain significance145175543RCV001056432; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165864501658645011:g.65864501A>G-
NM_001256864.2(DNAJC6):c.2072A>G (p.Asp691Gly)9829DNAJC6Uncertain significance747034717RCV001885956|RCV002552200; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C09501231658645296586452965864529-
NM_001256864.2(DNAJC6):c.2086T>C (p.Trp696Arg)9829DNAJC6Uncertain significance1462099424RCV000549185; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586454365864543NC_000001.10:g.65864543T>CClinGen:CA340691622C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2106A>G (p.Pro702=)9829DNAJC6Uncertain significance-1RCV003050670; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586456365864563-
NM_001256864.2(DNAJC6):c.2107+3A>G9829DNAJC6Uncertain significance371583880RCV001909431; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658645676586456765864567-
NM_001256864.2(DNAJC6):c.2107+8_2107+10del9829DNAJC6Uncertain significance1199919797RCV002018008; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658645706586457265864569-
NM_001256864.2(DNAJC6):c.2119A>G (p.Met707Val)9829DNAJC6Uncertain significance-1RCV002623996; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586745565867455NC_000001.10:g.65867455A>G-
NM_001256864.2(DNAJC6):c.2130G>A (p.Lys710=)9829DNAJC6Likely benign-1RCV003053604; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586746665867466-
NM_001256864.2(DNAJC6):c.2151C>T (p.Thr717=)9829DNAJC6Likely benign145501615RCV001438544; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165867487658674871:g.65867487C>T-
NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu)9829DNAJC6Likely benign143504255RCV001559992|RCV002072122; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658674956586749565867495-
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn)9829DNAJC6Benign4915691RCV001516089|RCV001579333|RCV001727864; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MedGen:C3661900|MedGen:CN1693741658675196586751965867519-
NM_001256864.2(DNAJC6):c.2205T>G (p.Pro735=)9829DNAJC6Likely benign-1RCV002966565; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116586754165867541-
NM_001256864.2(DNAJC6):c.2212G>A (p.Asp738Asn)9829DNAJC6Uncertain significance140156759RCV001893576; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658675486586754865867548-
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=)9829DNAJC6Likely benign879255554RCV000239573|RCV001420733; NMONDO:MONDO:0800369,MedGen:C4310802|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165867559658675591:g.65867559A>TClinGen:CA10586195,OMIM:608375.0004CN237819 Parkinson disease 19b, early-onset;
NM_001256864.2(DNAJC6):c.2228-17T>A9829DNAJC6Likely benign2101634939RCV002129551; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658715366587153665871536-
NM_001256864.2(DNAJC6):c.2228-3T>C9829DNAJC6Uncertain significance753885398RCV000803540; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165871550658715501:g.65871550T>C-
NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser)9829DNAJC6Likely benign113143702RCV000873884; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165871579658715791:g.65871579A>T-
NM_001256864.2(DNAJC6):c.2255C>T (p.Thr752Ile)9829DNAJC6Uncertain significance2101635055RCV001990766; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658715806587158065871580-
NM_001256864.2(DNAJC6):c.2290C>T (p.Leu764Phe)9829DNAJC6Uncertain significance917235831RCV000525164; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165871615658716151:g.65871615C>TClinGen:CA24366754C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2298G>A (p.Ser766=)9829DNAJC6Likely benign540477402RCV001407824; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165871623658716231:g.65871623G>A-
NM_001256864.2(DNAJC6):c.2309C>T (p.Ala770Val)9829DNAJC6Uncertain significance-1RCV002650704|RCV002663055; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587163465871634NC_000001.10:g.65871634C>T-
NM_001256864.2(DNAJC6):c.2310G>A (p.Ala770=)9829DNAJC6Likely benign113490907RCV001472365; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165871635658716351:g.65871635G>A-
NM_001256864.2(DNAJC6):c.2331C>T (p.Gly777=)9829DNAJC6Benign370155769RCV002205585; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658716566587165665871656-
NM_001256864.2(DNAJC6):c.2351C>T (p.Ala784Val)9829DNAJC6Uncertain significance-1RCV002600247; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587167665871676NC_000001.10:g.65871676C>T-
NM_001256864.2(DNAJC6):c.2365C>T (p.Gln789Ter)9829DNAJC6not provided2101635253RCV001420730; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658716906587169065871690-
NM_001256864.2(DNAJC6):c.2370A>C (p.Pro790=)9829DNAJC6Likely benign-1RCV003114924; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587169565871695-
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter)9829DNAJC6Pathogenic398122405RCV000074443; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165871735658717351:g.65871735C>TClinGen:CA145378,OMIM:608375.0002C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2416C>T (p.Arg806Ter)9829DNAJC6not provided1646073230RCV001420729; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658717416587174165871741-
NM_001256864.2(DNAJC6):c.2443G>T (p.Ala815Ser)9829DNAJC6Uncertain significance369274494RCV002012539; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658717686587176865871768-
NM_001256864.2(DNAJC6):c.2451T>G (p.Pro817=)9829DNAJC6Benign61733018RCV002539212; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165871776658717761:g.65871776T>G-
NM_001256864.2(DNAJC6):c.2456dup (p.Gln820fs)9829DNAJC6Pathogenic2101635447RCV001993208; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658717766587177765871776-
NM_001256864.2(DNAJC6):c.2463C>T (p.Asn821=)9829DNAJC6Likely benign193114909RCV002134694; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658717886587178865871788-
NM_001256864.2(DNAJC6):c.2468G>C (p.Arg823Pro)9829DNAJC6Uncertain significance201984806RCV000689636; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165871793658717931:g.65871793G>C-C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His)9829DNAJC6Uncertain significance201984806RCV001067504|RCV002554523; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C0950123165871793658717931:g.65871793G>A-
NM_001256864.2(DNAJC6):c.2476G>A (p.Gly826Arg)9829DNAJC6Uncertain significance-1RCV003093736; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587180165871801NC_000001.10:g.65871801G>A-
NM_001256864.2(DNAJC6):c.2506G>T (p.Ala836Ser)9829DNAJC6Uncertain significance-1RCV002829478; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587433865874338NC_000001.10:g.65874338G>T-
NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=)9829DNAJC6Likely benign753691766RCV002262237|RCV003095957; NMedGen:C3661900|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587435865874358-
NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter)9829DNAJC6Pathogenic886039854RCV000256354; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411165874368658743681:g.65874368C>TClinGen:CA10588903,OMIM:608375.0005C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2553C>G (p.His851Gln)9829DNAJC6Uncertain significance-1RCV002638116; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587438565874385NC_000001.10:g.65874385C>G-
NM_001256864.2(DNAJC6):c.2570del (p.Pro857fs)9829DNAJC6Likely pathogenic-1RCV003234614; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587440165874401-
NM_001256864.2(DNAJC6):c.2634+18C>T9829DNAJC6Likely benign-1RCV003007683; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587448465874484NC_000001.10:g.65874484C>T-
NM_001256864.2(DNAJC6):c.2687C>T (p.Thr896Met)9829DNAJC6not provided200138922RCV001420734; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658769856587698565876985-
NM_001256864.2(DNAJC6):c.2689A>T (p.Met897Leu)9829DNAJC6Uncertain significance-1RCV003028544; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587698765876987NC_000001.10:g.65876987A>T-
NM_001256864.2(DNAJC6):c.2697C>T (p.Thr899=)9829DNAJC6Likely benign149097758RCV002164382; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658769956587699565876995-
NM_001256864.2(DNAJC6):c.2715G>C (p.Glu905Asp)9829DNAJC6Uncertain significance201708707RCV001935707|RCV003289227; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C09501231658770136587701365877013-
NM_001256864.2(DNAJC6):c.2762A>T (p.Gln921Leu)9829DNAJC6Uncertain significance1203943853RCV001918287|RCV003167109; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:391411|MeSH:D030342,MedGen:C09501231658770606587706065877060-
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly)9829DNAJC6Pathogenic879255630RCV000239521|RCV001420731; NMONDO:MONDO:0800369,MedGen:C4310802|MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587707765877077NC_000001.10:g.65877077A>GClinGen:CA10586194,OMIM:608375.0003CN237819 Parkinson disease 19b, early-onset;
NM_001256864.2(DNAJC6):c.2799G>A (p.Val933=)9829DNAJC6Likely benign764156036RCV001500100; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658770976587709765877097-
NM_001256864.2(DNAJC6):c.2838C>T (p.Tyr946=)9829DNAJC6Likely benign148209150RCV000537857; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587863365878633NC_000001.10:g.65878633C>TClinGen:CA894252C3809811 615528 Parkinson disease 19a, juvenile-onset;
NM_001256864.2(DNAJC6):c.2839G>A (p.Ala947Thr)9829DNAJC6Uncertain significance755391548RCV001982138; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658786346587863465878634-
NM_001256864.2(DNAJC6):c.2846T>C (p.Met949Thr)9829DNAJC6Uncertain significance-1RCV003042426; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:39141116587864165878641NC_000001.10:g.65878641T>C-
NM_001256864.2(DNAJC6):c.2873G>T (p.Trp958Leu)9829DNAJC6Uncertain significance1380186979RCV001994218; NMONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528, Orphanet:3914111658786686587866865878668-
MSeqDR Portal