MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Parkinson Disease (D010300)
..Starting node
..expand
PARKINSON DISEASE, LATE-ONSET (OMIM:168600)

       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:9565
Name:PARKINSON DISEASE, LATE-ONSET
Definition:
Alternative IDs:DO:DOID:14330
ParentIDs:MESH:D010300
TreeNumbers:C10.228.140.079.862.500/168600 |C10.228.662.600.400/168600 |C10.574.812/168600
Synonyms:PARK |PD
Slim Mappings:Nervous system disease
Reference: MedGen: 168600
MeSH: 168600
OMIM: 168600;
MSeqDR LSDB:  
Genes: ADH1C; ATXN2; GBA; MAPT; TBP;
Phenotypes
1 HP:0002459DysautonomiaHP:0040283
2 HP:0003587Insidious onset
3 HP:0002067Bradykinesia
4 HP:0002019Constipation
5 HP:0000726Dementia
NAMDC:  Dementia
6 HP:0000716Depressivity
NAMDC:  Depression
7 HP:0001260Dysarthria
NAMDC:  Dysarthria
8 HP:0002015Dysphagia
NAMDC:  Dysphagia
9 HP:0001332Dystonia
NAMDC:  Dystonia
10 HP:0000738HallucinationsHP:0040283
11 HP:0100315Lewy bodies
12 HP:0000298Mask-like facies
13 HP:0002529Neuronal loss in central nervous system
14 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
15 HP:0000751Personality changes
16 HP:0002172Postural instability
17 HP:0003676Progressive
18 HP:0002322Resting tremor
19 HP:0002063Rigidity
20 HP:0007311Short stepped shuffling gait
21 HP:0002360Sleep disturbance
22 HP:0003745Sporadic
23 HP:0011960Substantia nigra gliosis
24 HP:0001337Tremor
25 HP:0000012Urinary urgency
26 HP:0001621Weak voice
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000669.5(ADH1C):c.1066A>G (p.Ile356Val)126ADH1CUncertain significance-1RCV003447859; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116024100260771100260771-
NM_004993.6(ATXN3):c.892CAG[8_36]4287ATXN3Pathogenic; risk factor193922928RCV000003729|RCV000003730; NMONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150, Orphanet:98757|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602149253735592537357OMIM:607047.0001C0024408 109150 Azorean disease;
NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)10049DNAJB6Uncertain significance770053224RCV001836943|RCV001862670; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:0021018,MedGen:C4721885,OMIM:603511, Orphanet:3451671571776591571776597:g.157177659A>G-
NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser)23317DNAJC13Conflicting interpretations of pathogenicity387907571RCV000049582|RCV000170476|RCV000170494; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300|MONDO:MONDO:0014604,MedGen:C4225353,OMIM:616361, Orphanet:41160231321968391321968393:g.132196839A>GClinGen:CA199652,UniProtKB:O75165#VAR_073785,OMIM:614334.0001C0270736 Essential tremor;
NM_019851.3(FGF20):c.*182C>T26281FGF20Benign12720208RCV000005162|RCV001723539; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:C366190081685039916850399NC_000008.10:g.16850399G>AClinGen:CA10602348,OMIM:605558.0001C3160718 168600 Parkinson disease, late-onset;
GRCh37/hg19 1q22(chr1:155188179-155209868)2629GBA1Pathogenic-1RCV001004082; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155188179155209868-
NM_000157.4(GBA1):c.1586A>G (p.His529Arg)2629GBA1Uncertain significance1571964031RCV001808962; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155204811155204811-
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)2629GBA1Pathogenic; risk factor421016RCV000004510|RCV000004512|RCV000004509|RCV000004511|RCV000004513|RCV000020150|RCV000413257|RCV000626625|RCV001004112|RCV001197164|RCV002460879|RCV002476924|RCV003398445; YMONDO:MONDO:0009267,MedGen:C0268251,OMIM:231000, Orphanet:355, Orphanet:77261|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:0009266,MedGen:C0268250,OMIM:230900, Orphanet:77260|MONDO:MONDO:0009265,MedGen:C1961835,OMIM:230800,Or11552050431552050431:g.155205043A>GClinGen:CA116765,UniProtKB:P04062#VAR_003321,OMIM:606463.0001,OMIM:606463.0009,ClinVar:4297,ClinVar:424818,ClinVar:424819C0026650 Abnormality of movement;
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)2629GBA1Likely benign75671029RCV000004582|RCV001174737|RCV001582465|RCV001826414|RCV002490310; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355|7 conditions11552050471552050471:g.155205047C>TClinGen:CA253118,UniProtKB:P04062#VAR_063067,OMIM:606463.0048C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.1440G>C (p.Lys480Asn)2629GBA1Uncertain significance1057519356RCV000416583; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160211552050511552050511:g.155205051C>GClinGen:CA16044121C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.1312G>C (p.Asp438His)2629GBA1Likely pathogenic1553217009RCV001771807; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155205548155205548155205548-
NM_000157.4(GBA1):c.1277C>T (p.Pro426Leu)2629GBA1Uncertain significance1057519357RCV000416572; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155205583155205583ClinGen:CA16044122C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)2629GBA1Pathogenic/Likely pathogenic; risk factor76763715RCV000004517|RCV000004515|RCV000004516|RCV000079336|RCV000396221|RCV000414782|RCV000515439|RCV001004117|RCV001197918|RCV001195689|RCV001270528|RCV002247244|RCV002460880; YMedGen:C2676021|MONDO:MONDO:0009265,MedGen:C1961835,OMIM:230800, Orphanet:355, Orphanet:77259|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:C3661900|MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355|Human Phenotype Ontology:HP:000211552056341552056341:g.155205634T>CClinGen:CA116767,UniProtKB:P04062#VAR_003302,OMIM:606463.0003C0268250 230900 Acute neuronopathic Gaucher's disease;
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)2629GBA1Conflicting interpretations of pathogenicity75548401RCV000079335|RCV000244995|RCV000416597|RCV001196545|RCV001249086|RCV002460911; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:0011945,MedGen:C1842704,OMIM:608013, Orphanet:85212|MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355|MeSH:D030342,MedGen:C095012311552060371552060371:g.155206037G>AClinGen:CA221388,UniProtKB:P04062#VAR_003301CN517202 not provided;
NM_000157.4(GBA1):c.1220T>C (p.Ile407Thr)2629GBA1Uncertain significance1057519358RCV000416604; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155206040155206040NC_000001.10:g.155206040A>GClinGen:CA16044124C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)2629GBA1Pathogenic/Likely pathogenic1057942RCV000733225|RCV002499368|RCV003336163; NMedGen:C3661900|7 conditions|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155207203155207203NC_000001.10:g.155207203T>C-
NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)2629GBA1Likely pathogenic-1RCV003225714; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155207235155207235-
NM_000157.4(GBA1):c.762-1G>C2629GBA1Pathogenic/Likely pathogenic1237637353RCV000995774|RCV000781413|RCV002487610; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355|7 conditions1155207370155207370NC_000001.10:g.155207370C>G-
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)2629GBA1Pathogenic1671872221RCV001290586|RCV001566455|RCV001836981; NMONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355|MedGen:C3661900|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155208051155208051155208051-
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)2629GBA1Pathogenic/Likely pathogenic1009850780RCV001732184|RCV001780385|RCV001837003|RCV003416342; NMONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355|MedGen:C3661900|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|1155208082155208082155208082-
NM_000157.4(GBA1):c.232C>T (p.Arg78Cys)2629GBA1Uncertain significance-1RCV003004137|RCV003155523|RCV003322640; NMeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155209752155209752NC_000001.10:g.155209752G>A-
NM_000157.4(GBA1):c.221G>C (p.Gly74Ala)2629GBA1Uncertain significance371592589RCV000416569; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160211552097631552097631:g.155209763C>GClinGen:CA16044123C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.1294T>A (p.Trp432Arg)-1GBA1;LOC106627981Pathogenic1557901552RCV000735863; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021155205566155205566-
NM_012084.4(GLUD2):c.256G>A (p.Val86Met)2747GLUD2Uncertain significance-1RCV003447858; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602X120181794120181794-
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala)2747GLUD2Uncertain significance9697983RCV000022827|RCV002251924; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|X120183030120183030X:g.120183030T>GClinGen:CA259694,UniProtKB:P49448#VAR_048867,OMIM:300144.0001C3160718 168600 Parkinson disease, late-onset;
NM_198578.4(LRRK2):c.2352C>A (p.Ser784Arg)120892LRRK2Uncertain significance398124660RCV000082877; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160212406777874067778712:g.40677787C>AClinGen:CA267237C3160718 168600 Parkinson disease, late-onset;
NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser)120892LRRK2Likely pathogenic33939927RCV000210925|RCV000804195; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060, Orphanet:411602124070423640704236NC_000012.11:g.40704236C>AClinGen:CA358589C3160718 168600 Parkinson disease, late-onset;
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)120892LRRK2Pathogenic/Likely pathogenic; risk factor34637584RCV000002017|RCV000325492|RCV000622347|RCV001195216|RCV001836691|RCV003407254; YMONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060, Orphanet:411602|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017279,MedGen:C4275179, Orphanet:2828|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|12407342024073420212:g.40734202G>AClinGen:CA339926,UniProtKB:Q5S007#VAR_024958,OMIM:609007.0006C0950123 Inborn genetic diseases;
NM_198578.4(LRRK2):c.7300A>G (p.Ile2434Val)120892LRRK2Uncertain significance398124661RCV000082878|RCV000712245; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:C366190012407587624075876212:g.40758762A>GClinGen:CA267239C3160718 168600 Parkinson disease, late-onset;
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)4137MAPTUncertain significance755131800RCV000662118|RCV000662117|RCV000662119|RCV000662120; NMONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:C4551862|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160217440397504403975017:g.44039750G>T-C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.220+2535A>G4137MAPTBenign1800547RCV000249235|RCV000353232|RCV001510734|RCV001636762|RCV002503932; NMedGen:CN169374|MedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:C3661900|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:0009839,MedGen:C1850077,OMIM:26017440518464405184617:g.44051846A>GClinGen:CA8617602CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)4137MAPTUncertain significance753640366RCV000521274|RCV002476073|RCV003419916; NMedGen:C3661900|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:240085, Orphanet:68317440609874406098717:g.44060987T>CClinGen:CA8617760CN169374 not specified;
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)4137MAPTUncertain significance377402921RCV000493800|RCV000764133; NMedGen:C3661900|MedGen:C4551862; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:24017440610604406106017:g.44061060C>TClinGen:CA8617779CN169374 not specified;
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)4137MAPTLikely benign115142761RCV001459077|RCV002495658; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:240085, Orphanet:683, Orphanet:99750; 17440739134407391344073913-
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)4137MAPTPathogenic63750756RCV000015322|RCV000084521|RCV000763404; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:C3661900|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:00017440876904408769017:g.44087690T>GClinGen:CA225424,UniProtKB:P10636#VAR_010346,OMIM:157140.0009C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del)4137MAPTPathogenic63751392RCV000015334|RCV000015335|RCV000084581; NMONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:240085, Orphanet:683, Orphanet:99750|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:C366190017440877374408773917:g.44087737_44087739delClinGen:CA123828,OMIM:157140.0021CN517202 not provided;
NM_005460.4(SNCAIP):c.1861C>T (p.Arg621Cys)-1MGC32805;SNCAIPLikely benign28937592RCV000006451|RCV000314385|RCV000894183; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:CN239308|MedGen:C366190051217864031217864035:g.121786403C>TClinGen:CA253762,UniProtKB:Q9Y6H5#VAR_025667,OMIM:603779.0001CN239308 Parkinson Disease, Dominant/Recessive;
m.3397A>G4535MT-ND1Benign199476120RCV000010376|RCV000010377|RCV000853653; NHuman Phenotype Ontology:HP:0002511,Human Phenotype Ontology:HP:0006878,Human Phenotype Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395, Orphanet:1020|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:000972M33973397M:g.3397A>GClinGen:CA254859,OMIM:516000.0005C0002395 104300 Alzheimer's disease;
NM_006186.3(NR4A2):c.*1311A>G4929NR4A2Uncertain significance886054974RCV000360741; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157180945157180945NC_000002.11:g.157180945T>CClinGen:CA10611044CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*1249A>G4929NR4A2Likely benign564495914RCV001129264; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571810071571810072:g.157181007T>C-
NM_006186.4(NR4A2):c.*1198C>T4929NR4A2Uncertain significance577905348RCV000261252; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157181058157181058NC_000002.11:g.157181058G>AClinGen:CA10612604CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*1017T>C4929NR4A2Uncertain significance986511917RCV001129265; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571812391571812392:g.157181239A>G-
NM_006186.4(NR4A2):c.*933G>A4929NR4A2Likely benign563505935RCV000316517; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157181323157181323NC_000002.11:g.157181323C>TClinGen:CA10612359CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*822A>C4929NR4A2Uncertain significance886054975RCV000375093; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157181434157181434NC_000002.11:g.157181434T>GClinGen:CA10611045CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*599T>G4929NR4A2Uncertain significance1268567400RCV001129266; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571816571571816572:g.157181657A>C-
NM_006186.4(NR4A2):c.*352C>A4929NR4A2Benign115393922RCV000385507; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157181904157181904NC_000002.11:g.157181904G>TClinGen:CA10611056CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*331T>G4929NR4A2Benign12803RCV000295649; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157181925157181925NC_000002.11:g.157181925A>CClinGen:CA10611444CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*192C>G4929NR4A2Uncertain significance747113198RCV000350620; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157182064157182064NC_000002.11:g.157182064G>CClinGen:CA10612362CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.1746G>A (p.Val582=)4929NR4A2Uncertain significance886054976RCV000392537; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157182307157182307NC_000002.11:g.157182307C>TClinGen:CA10611058CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.1659C>G (p.Ser553=)4929NR4A2Uncertain significance886054977RCV000287586; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157182394157182394NC_000002.11:g.157182394G>CClinGen:CA10612608CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.1638G>A (p.Leu546=)4929NR4A2Likely benign528222526RCV001131971; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571824151571824152:g.157182415C>T-
NM_006186.4(NR4A2):c.1635G>T (p.Gly545=)4929NR4A2Uncertain significance886054978RCV000347476; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157182418157182418NC_000002.11:g.157182418C>AClinGen:CA10611059CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.1588A>C (p.Lys530Gln)4929NR4A2Uncertain significance1686624142RCV001131972; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571824651571824652:g.157182465T>G-
NM_006186.4(NR4A2):c.1548C>T (p.His516=)4929NR4A2Uncertain significance1343095735RCV001132916; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571825051571825052:g.157182505G>A-
NM_006186.4(NR4A2):c.1273C>T (p.Pro425Ser)4929NR4A2Uncertain significance371624401RCV001132917; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571833181571833182:g.157183318G>A-
NM_006186.4(NR4A2):c.1230G>A (p.Leu410=)4929NR4A2Uncertain significance139491338RCV001132918; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571833611571833612:g.157183361C>T-
NM_006186.4(NR4A2):c.1170C>A (p.Asn390Lys)4929NR4A2Uncertain significance1486481129RCV001132919; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571834211571834212:g.157183421G>T-
NM_006186.4(NR4A2):c.1163A>T (p.Gln388Leu)4929NR4A2Uncertain significance767330388RCV001132920; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571834281571834282:g.157183428T>A-
NM_006186.4(NR4A2):c.1158+13C>T4929NR4A2Uncertain significance372468197RCV000405563; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157184350157184350NC_000002.11:g.157184350G>AClinGen:CA1916304CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe)4929NR4A2Pathogenic2105605264RCV002250155; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157185014157185014157185014-
NM_006186.4(NR4A2):c.881dup (p.Asn294fs)4929NR4A2Uncertain significance1686760554RCV001196350; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571850281571850292:g.157185028_157185029insT-
NM_006186.4(NR4A2):c.732C>A (p.Leu244=)4929NR4A2Benign/Likely benign16840266RCV000303009|RCV000882820; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:C36619002157185967157185967NC_000002.11:g.157185967G>TClinGen:CA1916390CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.657T>C (p.Ala219=)4929NR4A2Conflicting interpretations of pathogenicity769677341RCV000357837|RCV003430837; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:C36619002157186042157186042NC_000002.11:g.157186042A>GClinGen:CA1916405CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.591C>A (p.Pro197=)4929NR4A2Uncertain significance769738246RCV001136353; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571861081571861082:g.157186108G>T-
NM_006186.4(NR4A2):c.585C>T (p.Asp195=)4929NR4A2Likely benign143064317RCV000394445; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157186114157186114NC_000002.11:g.157186114G>AClinGen:CA1916426CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.372C>T (p.Pro124=)4929NR4A2Uncertain significance943205037RCV001136354; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571863271571863272:g.157186327G>A-
NM_006186.4(NR4A2):c.360T>G (p.Val120=)4929NR4A2Uncertain significance201399912RCV001136355; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571863391571863392:g.157186339A>C-
NM_006186.4(NR4A2):c.325C>G (p.Gln109Glu)4929NR4A2Uncertain significance747551776RCV001136356; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571863741571863742:g.157186374G>C-
NM_006186.4(NR4A2):c.325C>A (p.Gln109Lys)4929NR4A2Uncertain significance747551776RCV001136357; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571863741571863742:g.157186374G>T-
NM_006186.4(NR4A2):c.-144G>A4929NR4A2Uncertain significance886054979RCV000304357; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157189009157189009NC_000002.11:g.157189009C>TClinGen:CA10611446CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-166C>G4929NR4A2Uncertain significance755057457RCV000354613; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157189031157189031NC_000002.11:g.157189031G>CClinGen:CA1916515CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-223C>T4929NR4A2Likely benign114461423RCV000259760; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157189088157189088NC_000002.11:g.157189088G>AClinGen:CA10611447CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-227C>G4929NR4A2Uncertain significance886054980RCV000318518; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157189092157189092NC_000002.11:g.157189092G>CClinGen:CA10612609CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-241C>G4929NR4A2Uncertain significance536532102RCV000368568; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157189106157189106NC_000002.11:g.157189106G>CClinGen:CA10612615CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-245T>G4929NR4A2Uncertain significance2105626807RCV000008119; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157189110157189110157189110OMIM:601828.0002C3160718 168600 Parkinson disease, late-onset;
NM_006186.4(NR4A2):c.-253C>T4929NR4A2Uncertain significance1242736877RCV001129364; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571891181571891182:g.157189118G>A-
NM_006186.4(NR4A2):c.-291del4929NR4A2Uncertain significance-1RCV000008118; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157189156157189156157189155OMIM:601828.0001
NM_006186.4(NR4A2):c.-304C>T4929NR4A2Uncertain significance1003135527RCV001129365; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571891691571891692:g.157189169G>A-
NM_006186.4(NR4A2):c.-325C>G4929NR4A2Uncertain significance886054981RCV000273828; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116022157189190157189190NC_000002.11:g.157189190G>CClinGen:CA10611063CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-339C>A4929NR4A2Uncertain significance1055625772RCV001129366; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571892041571892042:g.157189204G>T-
NM_006186.3(NR4A2):c.-384T>C4929NR4A2Uncertain significance886054982RCV000333539; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571892491571892492:g.157189249A>GClinGen:CA10612375CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.3(NR4A2):c.-437A>G4929NR4A2Uncertain significance1686993973RCV001132086; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160221571893021571893022:g.157189302T>C-
NUBPL, 240-KB DEL AND 130-KB DUP80224NUBPLPathogenic-1RCV000000018|RCV001256005; NMONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602143186717932280475OMIM:613621.0002C1838979 252010 Mitochondrial complex I deficiency;
NM_007262.5(PARK7):c.399G>C (p.Met133Ile)11315PARK7Uncertain significance398124657RCV000082873; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116021803778880377881:g.8037788G>CClinGen:CA267229C3160718 168600 Parkinson disease, late-onset;
NM_032409.3(PINK1):c.644C>T (p.Pro215Leu)65018PINK1Uncertain significance371854396RCV000082875; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160212096459120964591NC_000001.10:g.20964591C>TClinGen:CA267233,UniProtKB:Q9BXM7#VAR_041013C3160718 168600 Parkinson disease, late-onset;
NM_032409.3(PINK1):c.923T>A (p.Leu308Gln)65018PINK1Uncertain significance398124659RCV000082876; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160212097112920971129NC_000001.10:g.20971129T>AClinGen:CA267235C3160718 168600 Parkinson disease, late-onset;
NM_001018111.3(PODXL):c.1381C>A (p.Pro461Thr)5420PODXLUncertain significance869312170RCV000210042; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41160271311907251311907257:g.131190725G>TClinGen:CA353469C3160718 168600 Parkinson disease, late-onset;
NM_001018111.3(PODXL):c.1214G>A (p.Ser405Asn)5420PODXLUncertain significance869312171RCV000210043; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:4116027131191373131191373NC_000007.13:g.131191373C>TClinGen:CA353472C3160718 168600 Parkinson disease, late-onset;
NM_001018111.3(PODXL):c.977G>A (p.Arg326Gln)5420PODXLUncertain significance869312172RCV000210037|RCV002515511; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MedGen:C366190071311941701311941707:g.131194170C>TClinGen:CA353466C3160718 168600 Parkinson disease, late-onset;
NM_002778.4(PSAP):c.470A>G (p.Asn157Ser)5660PSAPUncertain significance756379007RCV001836944|RCV002554808; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:51210735887407358874010:g.73588740T>C-
NM_018206.6(VPS35):c.1576C>T (p.Arg526Cys)55737VPS35Uncertain significance398124658RCV000082874; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602164670291346702913NC_000016.9:g.46702913G>AClinGen:CA267231C3160718 168600 Parkinson disease, late-onset;
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