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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Parkinson Disease (D010300)
..Starting node ..PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Child Nodes:
Sister Nodes:
..AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..Paralysis Agitans, Juvenile, Of Hunt (C562469)
..PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..Parkinson Disease 10 (C564653)
..Parkinson Disease 11 (C564345)
..PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
..Parkinson Disease 12 (C564486)
..Parkinson Disease 13 (C565204)
..PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..Parkinson Disease 16 (C567726)
..PARKINSON DISEASE 17 (OMIM:614203)
..PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
..PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
..PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
..PARKINSON DISEASE 21 (OMIM:616361)
..PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
..PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
..Parkinson disease 3 (C537176)
..Parkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..Parkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
..Parkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..Parkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..Parkinson Disease, Familial, Type 1 (C566823)
..PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..Parkinson Disease, Mitochondrial (C564015) L: 00170;
..Parkinsonism, early onset with mental retardation (C537179)
..Parkinsonism-Dystonia, Infantile (C567730)
..Progressive 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 :
Genes: ADH1C; ATXN2; GBA; MAPT; TBP;

Phenotypes

1	HP:0002459	Dysautonomia	HP:0040283
2	HP:0003587	Insidious onset
3	HP:0002067	Bradykinesia
4	HP:0002019	Constipation
5	HP:0000726	Dementia NAMDC: Dementia
6	HP:0000716	Depressivity NAMDC: Depression
7	HP:0001260	Dysarthria NAMDC: Dysarthria
8	HP:0002015	Dysphagia NAMDC: Dysphagia
9	HP:0001332	Dystonia NAMDC: Dystonia
10	HP:0000738	Hallucinations	HP:0040283
11	HP:0100315	Lewy bodies
12	HP:0000298	Mask-like facies
13	HP:0002529	Neuronal loss in central nervous system
14	HP:0001300	Parkinsonism NAMDC: Parkinsonism
15	HP:0000751	Personality changes
16	HP:0002172	Postural instability
17	HP:0003676	Progressive
18	HP:0002322	Resting tremor
19	HP:0002063	Rigidity
20	HP:0007311	Short stepped shuffling gait
21	HP:0002360	Sleep disturbance
22	HP:0003745	Sporadic
23	HP:0011960	Substantia nigra gliosis
24	HP:0001337	Tremor
25	HP:0000012	Urinary urgency
26	HP:0001621	Weak voice

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_004993.6(ATXN3):c.892CAG[8_36]	4287	ATXN3	Pathogenic; risk factor	rs193922928	RCV000003729\|RCV000003730;	N	MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150, Orphanet:98757\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	14	92537355	92537357		OMIM:607047.0001	C0024408 109150 Azorean disease;
NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)	10049	DNAJB6	Uncertain significance	rs770053224	RCV001836943\|RCV001862670;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MONDO:MONDO:0021018,MedGen:C4721885,OMIM:603511, Orphanet:34516	7	157177659	157177659	7:g.157177659A>G	-
NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser)	23317	DNAJC13	Conflicting interpretations of pathogenicity	rs387907571	RCV000049582\|RCV000170476\|RCV000170494;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300, Orphanet:862\|MONDO:MONDO:0014604,MedGen:C4225353,OMIM:616361, Orphanet:411602	3	132196839	132196839	3:g.132196839A>G	ClinGen:CA199652,UniProtKB:O75165#VAR_073785,OMIM:614334.0001	C0270736 Essential tremor;
NM_019851.3(FGF20):c.*182C>T	26281	FGF20	Benign	rs12720208	RCV000005162\|RCV001723539;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MedGen:CN517202	8	16850399	16850399	NC_000008.10:g.16850399G>A	ClinGen:CA10602348,OMIM:605558.0001	C3160718 168600 Parkinson disease, late-onset;
GRCh37/hg19 1q22(chr1:155188179-155209868)	2629	GBA	Pathogenic	-1	RCV001004082;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155188179	155209868		-
NM_000157.4(GBA):c.1586A>G (p.His529Arg)	2629	GBA	Uncertain significance	-1	RCV001808962;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155204811	155204811	155204811	-
NM_000157.4(GBA):c.1277C>T (p.Pro426Leu)	2629	GBA	Uncertain significance	rs1057519357	RCV000416572;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155205583	155205583	1:g.155205583G>A	ClinGen:CA16044122	C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	2629	GBA1	Pathogenic	rs80356771	RCV000004530\|RCV000004531\|RCV000004528\|RCV000004529\|RCV000020151\|RCV000079343\|RCV000762852\|RCV001004110\|RCV002460882;	N	MONDO:MONDO:0009267,MedGen:C0268251,OMIM:231000, Orphanet:355, Orphanet:77261\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MONDO:MONDO:0009265,MedGen:C1961835,OMIM:230800, Orphanet:355, Orphanet:77259\|MONDO:MONDO:0009266,MedGen:C0268250,O	1	155204987	155204987	1:g.155204987G>A	ClinGen:CA221394,UniProtKB:P04062#VAR_003324,OMIM:606463.0008	C0268250 230900 Acute neuronopathic Gaucher's disease;
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	2629	GBA1	Pathogenic; risk factor	rs421016	RCV000004513\|RCV000004510\|RCV000004512\|RCV000004509\|RCV000004511\|RCV000020150\|RCV000413257\|RCV000626625\|RCV001004112\|RCV001197164\|RCV002476924\|RCV002460879;	Y	MedGen:C2676021\|MONDO: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:C196183	1	155205043	155205043	1:g.155205043A>G	ClinGen:CA116765,UniProtKB:P04062#VAR_003321,OMIM:606463.0001,OMIM:606463.0009,ClinVar:4297,ClinVar:424818,ClinVar:424819	C0026650 Abnormality of movement;
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)	2629	GBA1	Likely benign	rs75671029	RCV000004582\|RCV001174737\|RCV001582465\|RCV001826414\|RCV002490310;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355\|7 conditions	1	155205047	155205047	1:g.155205047C>T	ClinGen:CA253118,UniProtKB:P04062#VAR_063067,OMIM:606463.0048	C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.1440G>C (p.Lys480Asn)	2629	GBA1	Uncertain significance	rs1057519356	RCV000416583;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155205051	155205051	1:g.155205051C>G	ClinGen:CA16044121	C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.1312G>C (p.Asp438His)	2629	GBA1	Likely pathogenic	-1	RCV001771807;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155205548	155205548	155205548	-
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	2629	GBA1	Pathogenic/Likely pathogenic; risk factor	rs76763715	RCV000004515\|RCV000004516\|RCV000004517\|RCV000079336\|RCV000396221\|RCV000414782\|RCV000515439\|RCV001004117\|RCV001195689\|RCV001197918\|RCV001270528\|RCV002247244\|RCV002460880;	Y	MONDO:MONDO:0009265,MedGen:C1961835,OMIM:230800, Orphanet:355, Orphanet:77259\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MedGen:C2676021\|MedGen:CN517202\|MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355\|Human Phenotype Ontology:HP:0002	1	155205634	155205634	1:g.155205634T>C	ClinGen:CA116767,UniProtKB:P04062#VAR_003302,OMIM:606463.0003	C0268250 230900 Acute neuronopathic Gaucher's disease;
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	2629	GBA1	Conflicting interpretations of pathogenicity	rs75548401	RCV000079335\|RCV000244995\|RCV000416597\|RCV001196545\|RCV001249086\|RCV002460911;	N	MedGen:CN517202\|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:C0950123	1	155206037	155206037	1:g.155206037G>A	ClinGen:CA221388,UniProtKB:P04062#VAR_003301	CN517202 not provided;
NM_000157.4(GBA1):c.1220T>C (p.Ile407Thr)	2629	GBA1	Uncertain significance	rs1057519358	RCV000416604;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155206040	155206040	NC_000001.10:g.155206040A>G	ClinGen:CA16044124	C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA1):c.762-1G>C	2629	GBA1	Pathogenic/Likely pathogenic	rs1237637353	RCV000781413\|RCV000995774\|RCV002487610;	N	MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|7 conditions	1	155207370	155207370	NC_000001.10:g.155207370C>G	-
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)	2629	GBA1	Pathogenic	rs1671872221	RCV001290586\|RCV001566455\|RCV001836981;	N	MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355\|MedGen:CN517202\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155208051	155208051	155208051	-
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)	2629	GBA1	Pathogenic/Likely pathogenic	-1	RCV001837003\|RCV001732184\|RCV001780385;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MONDO:MONDO:0018150,MedGen:C0017205, Orphanet:355\|MedGen:CN517202	1	155208082	155208082	155208082	-
NM_000157.4(GBA1):c.221G>C (p.Gly74Ala)	2629	GBA1	Uncertain significance	rs371592589	RCV000416569;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155209763	155209763	1:g.155209763C>G	ClinGen:CA16044123	C3160718 168600 Parkinson disease, late-onset;
NM_000157.4(GBA):c.1294T>A (p.Trp432Arg)	-1	GBA;LOC106627981	Pathogenic	rs1557901552	RCV000735863;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	155205566	155205566	NC_000001.10:g.155205566A>T	-
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala)	2747	GLUD2	Uncertain significance	rs9697983	RCV000022827\|RCV002251924;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|	X	120183030	120183030	X:g.120183030T>G	ClinGen:CA259694,UniProtKB:P49448#VAR_048867,OMIM:300144.0001	C3160718 168600 Parkinson disease, late-onset;
NM_198578.4(LRRK2):c.2352C>A (p.Ser784Arg)	120892	LRRK2	Uncertain significance	rs398124660	RCV000082877;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	12	40677787	40677787	12:g.40677787C>A	ClinGen:CA267237	C3160718 168600 Parkinson disease, late-onset;
NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser)	120892	LRRK2	Likely pathogenic	rs33939927	RCV000210925\|RCV000804195;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060, Orphanet:411602	12	40704236	40704236	NC_000012.11:g.40704236C>A	ClinGen:CA358589	C3160718 168600 Parkinson disease, late-onset;
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	120892	LRRK2	Pathogenic/Likely pathogenic; risk factor	rs34637584	RCV000002017\|RCV000325492\|RCV000622347\|RCV001195216\|RCV001836691;	Y	MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060, Orphanet:411602\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0017279,MedGen:C4275179, Orphanet:2828\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	12	40734202	40734202	12:g.40734202G>A	ClinGen:CA339926,UniProtKB:Q5S007#VAR_024958,OMIM:609007.0006	C0950123 Inborn genetic diseases;
NM_198578.4(LRRK2):c.7300A>G (p.Ile2434Val)	120892	LRRK2	Uncertain significance	rs398124661	RCV000082878\|RCV000712245;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MedGen:CN517202	12	40758762	40758762	12:g.40758762A>G	ClinGen:CA267239	C3160718 168600 Parkinson disease, late-onset;
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)	4137	MAPT	Uncertain significance	-1	RCV002049876\|RCV002506868;	N	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:683, Orphanet:99750;	17	44039713	44039713	44039713	-
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)	4137	MAPT	Uncertain significance	rs755131800	RCV000662120\|RCV000662118\|RCV000662117\|RCV000662119;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:C4551862	17	44039750	44039750	17:g.44039750G>T	-	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)	4137	MAPT	Uncertain significance	rs374996228	RCV001229146\|RCV002491726;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41	17	44039792	44039792	17:g.44039792C>T	-
NM_001377265.1(MAPT):c.220+2535A>G	4137	MAPT	Benign	rs1800547	RCV000249235\|RCV000353232\|RCV001510734\|RCV001636762\|RCV002503932;	N	MedGen:CN169374\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260	17	44051846	44051846	17:g.44051846A>G	ClinGen:CA8617602	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)	4137	MAPT	Uncertain significance	rs753640366	RCV000521274\|RCV002476073;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:	17	44060987	44060987	17:g.44060987T>C	ClinGen:CA8617760	CN169374 not specified;
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)	4137	MAPT	Uncertain significance	rs377402921	RCV000493800\|RCV000764133;	N	MedGen:CN517202\|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:683	17	44061060	44061060	17:g.44061060C>T	ClinGen:CA8617779	CN169374 not specified;
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del)	4137	MAPT	Pathogenic	rs63751392	RCV000015335\|RCV000015334\|RCV000084581;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:240085, Orphanet:683, Orphanet:99750\|MedGen:CN517202	17	44087737	44087739	17:g.44087737_44087739del	ClinGen:CA123828,OMIM:157140.0021	CN517202 not provided;
m.3397A>G	4535	MT-ND1	Benign	rs199476120	RCV000010377\|RCV000010376\|RCV000853653;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|Human Phenotype Ontology:HP:0002511,Human Phenotype Ontology:HP:0006878,Human Phenotype Ontology:HP:0007213,MONDO:MONDO:0004975,MedGen:C0002395, Orphanet:1020, Orphanet:238616\|MONDO:MONDO:000	M	3397	3397	M:g.3397A>G	ClinGen:CA254859,OMIM:516000.0005	C0002395 104300 Alzheimer's disease;
NM_006186.3(NR4A2):c.*1311A>G	4929	NR4A2	Uncertain significance	rs886054974	RCV000360741;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157180945	157180945	NC_000002.11:g.157180945T>C	ClinGen:CA10611044	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*1249A>G	4929	NR4A2	Likely benign	rs564495914	RCV001129264;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157181007	157181007	2:g.157181007T>C	-
NM_006186.4(NR4A2):c.*1198C>T	4929	NR4A2	Uncertain significance	rs577905348	RCV000261252;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157181058	157181058	NC_000002.11:g.157181058G>A	ClinGen:CA10612604	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*1017T>C	4929	NR4A2	Uncertain significance	rs986511917	RCV001129265;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157181239	157181239	2:g.157181239A>G	-
NM_006186.4(NR4A2):c.*933G>A	4929	NR4A2	Likely benign	rs563505935	RCV000316517;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157181323	157181323	NC_000002.11:g.157181323C>T	ClinGen:CA10612359	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*822A>C	4929	NR4A2	Uncertain significance	rs886054975	RCV000375093;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157181434	157181434	NC_000002.11:g.157181434T>G	ClinGen:CA10611045	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*599T>G	4929	NR4A2	Uncertain significance	rs1268567400	RCV001129266;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157181657	157181657	2:g.157181657A>C	-
NM_006186.4(NR4A2):c.*352C>A	4929	NR4A2	Benign	rs115393922	RCV000385507;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157181904	157181904	NC_000002.11:g.157181904G>T	ClinGen:CA10611056	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*331T>G	4929	NR4A2	Benign	rs12803	RCV000295649;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157181925	157181925	NC_000002.11:g.157181925A>C	ClinGen:CA10611444	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.*192C>G	4929	NR4A2	Uncertain significance	rs747113198	RCV000350620;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157182064	157182064	NC_000002.11:g.157182064G>C	ClinGen:CA10612362	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.1746G>A (p.Val582=)	4929	NR4A2	Uncertain significance	rs886054976	RCV000392537;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157182307	157182307	NC_000002.11:g.157182307C>T	ClinGen:CA10611058	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.1659C>G (p.Ser553=)	4929	NR4A2	Uncertain significance	rs886054977	RCV000287586;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157182394	157182394	NC_000002.11:g.157182394G>C	ClinGen:CA10612608	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.1638G>A (p.Leu546=)	4929	NR4A2	Likely benign	rs528222526	RCV001131971;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157182415	157182415	2:g.157182415C>T	-
NM_006186.4(NR4A2):c.1635G>T (p.Gly545=)	4929	NR4A2	Uncertain significance	rs886054978	RCV000347476;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157182418	157182418	NC_000002.11:g.157182418C>A	ClinGen:CA10611059	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.1588A>C (p.Lys530Gln)	4929	NR4A2	Uncertain significance	rs1686624142	RCV001131972;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157182465	157182465	2:g.157182465T>G	-
NM_006186.4(NR4A2):c.1548C>T (p.His516=)	4929	NR4A2	Uncertain significance	rs1343095735	RCV001132916;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157182505	157182505	2:g.157182505G>A	-
NM_006186.4(NR4A2):c.1273C>T (p.Pro425Ser)	4929	NR4A2	Uncertain significance	rs371624401	RCV001132917;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157183318	157183318	2:g.157183318G>A	-
NM_006186.4(NR4A2):c.1230G>A (p.Leu410=)	4929	NR4A2	Uncertain significance	rs139491338	RCV001132918;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157183361	157183361	2:g.157183361C>T	-
NM_006186.4(NR4A2):c.1170C>A (p.Asn390Lys)	4929	NR4A2	Uncertain significance	rs1486481129	RCV001132919;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157183421	157183421	2:g.157183421G>T	-
NM_006186.4(NR4A2):c.1163A>T (p.Gln388Leu)	4929	NR4A2	Uncertain significance	rs767330388	RCV001132920;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157183428	157183428	2:g.157183428T>A	-
NM_006186.4(NR4A2):c.1158+13C>T	4929	NR4A2	Uncertain significance	rs372468197	RCV000405563;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157184350	157184350	NC_000002.11:g.157184350G>A	ClinGen:CA1916304	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe)	4929	NR4A2	Pathogenic	-1	RCV002250155;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157185014	157185014	157185014	-
NM_006186.4(NR4A2):c.881dup (p.Asn294fs)	4929	NR4A2	Uncertain significance	rs1686760554	RCV001196350;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157185028	157185029	2:g.157185028_157185029insT	-
NM_006186.4(NR4A2):c.732C>A (p.Leu244=)	4929	NR4A2	Benign/Likely benign	rs16840266	RCV000303009\|RCV000882820;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MedGen:CN517202	2	157185967	157185967	NC_000002.11:g.157185967G>T	ClinGen:CA1916390	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.657T>C (p.Ala219=)	4929	NR4A2	Uncertain significance	rs769677341	RCV000357837;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157186042	157186042	NC_000002.11:g.157186042A>G	ClinGen:CA1916405	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.591C>A (p.Pro197=)	4929	NR4A2	Uncertain significance	rs769738246	RCV001136353;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157186108	157186108	2:g.157186108G>T	-
NM_006186.4(NR4A2):c.585C>T (p.Asp195=)	4929	NR4A2	Likely benign	rs143064317	RCV000394445;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157186114	157186114	NC_000002.11:g.157186114G>A	ClinGen:CA1916426	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.372C>T (p.Pro124=)	4929	NR4A2	Uncertain significance	rs943205037	RCV001136354;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157186327	157186327	2:g.157186327G>A	-
NM_006186.4(NR4A2):c.360T>G (p.Val120=)	4929	NR4A2	Uncertain significance	rs201399912	RCV001136355;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157186339	157186339	2:g.157186339A>C	-
NM_006186.4(NR4A2):c.325C>G (p.Gln109Glu)	4929	NR4A2	Uncertain significance	rs747551776	RCV001136356;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157186374	157186374	2:g.157186374G>C	-
NM_006186.4(NR4A2):c.325C>A (p.Gln109Lys)	4929	NR4A2	Uncertain significance	rs747551776	RCV001136357;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157186374	157186374	2:g.157186374G>T	-
NM_006186.4(NR4A2):c.-144G>A	4929	NR4A2	Uncertain significance	rs886054979	RCV000304357;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189009	157189009	NC_000002.11:g.157189009C>T	ClinGen:CA10611446	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-166C>G	4929	NR4A2	Uncertain significance	rs755057457	RCV000354613;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189031	157189031	NC_000002.11:g.157189031G>C	ClinGen:CA1916515	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-223C>T	4929	NR4A2	Likely benign	rs114461423	RCV000259760;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189088	157189088	NC_000002.11:g.157189088G>A	ClinGen:CA10611447	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-227C>G	4929	NR4A2	Uncertain significance	rs886054980	RCV000318518;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189092	157189092	NC_000002.11:g.157189092G>C	ClinGen:CA10612609	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-241C>G	4929	NR4A2	Uncertain significance	rs536532102	RCV000368568;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189106	157189106	NC_000002.11:g.157189106G>C	ClinGen:CA10612615	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-245T>G	4929	NR4A2	Uncertain significance	-1	RCV000008119;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189110	157189110	157189110	OMIM:601828.0002	C3160718 168600 Parkinson disease, late-onset;
NM_006186.4(NR4A2):c.-253C>T	4929	NR4A2	Uncertain significance	rs1242736877	RCV001129364;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189118	157189118	2:g.157189118G>A	-
NM_006186.4(NR4A2):c.-291del	4929	NR4A2	Uncertain significance	-1	RCV000008118;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189156	157189156	157189155	OMIM:601828.0001
NM_006186.4(NR4A2):c.-304C>T	4929	NR4A2	Uncertain significance	rs1003135527	RCV001129365;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189169	157189169	2:g.157189169G>A	-
NM_006186.4(NR4A2):c.-325C>G	4929	NR4A2	Uncertain significance	rs886054981	RCV000273828;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189190	157189190	NC_000002.11:g.157189190G>C	ClinGen:CA10611063	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.4(NR4A2):c.-339C>A	4929	NR4A2	Uncertain significance	rs1055625772	RCV001129366;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189204	157189204	2:g.157189204G>T	-
NM_006186.3(NR4A2):c.-384T>C	4929	NR4A2	Uncertain significance	rs886054982	RCV000333539;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189249	157189249	2:g.157189249A>G	ClinGen:CA10612375	CN239308 Parkinson Disease, Dominant/Recessive;
NM_006186.3(NR4A2):c.-437A>G	4929	NR4A2	Uncertain significance	rs1686993973	RCV001132086;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	2	157189302	157189302	2:g.157189302T>C	-
NC_000014.9:g.(31394019_31414809)_(31654321_31655889)del	80224	NUBPL	Pathogenic	-1	RCV000000018\|RCV001256005;	N	MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	14	31867179	32280475		dbVar:nssv7487142,OMIM:613621.0002	C1838979 252010 Mitochondrial complex I deficiency;
NM_007262.5(PARK7):c.399G>C (p.Met133Ile)	11315	PARK7	Uncertain significance	rs398124657	RCV000082873;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	8037788	8037788	1:g.8037788G>C	ClinGen:CA267229	C3160718 168600 Parkinson disease, late-onset;
NM_032409.3(PINK1):c.644C>T (p.Pro215Leu)	65018	PINK1	Uncertain significance	rs371854396	RCV000082875;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	20964591	20964591	NC_000001.10:g.20964591C>T	ClinGen:CA267233,UniProtKB:Q9BXM7#VAR_041013	C3160718 168600 Parkinson disease, late-onset;
NM_032409.3(PINK1):c.923T>A (p.Leu308Gln)	65018	PINK1	Uncertain significance	rs398124659	RCV000082876;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	1	20971129	20971129	NC_000001.10:g.20971129T>A	ClinGen:CA267235	C3160718 168600 Parkinson disease, late-onset;
NM_001018111.3(PODXL):c.1381C>A (p.Pro461Thr)	5420	PODXL	Uncertain significance	rs869312170	RCV000210042;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	7	131190725	131190725	7:g.131190725G>T	ClinGen:CA353469	C3160718 168600 Parkinson disease, late-onset;
NM_001018111.3(PODXL):c.1214G>A (p.Ser405Asn)	5420	PODXL	Uncertain significance	rs869312171	RCV000210043;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	7	131191373	131191373	NC_000007.13:g.131191373C>T	ClinGen:CA353472	C3160718 168600 Parkinson disease, late-onset;
NM_001018111.3(PODXL):c.977G>A (p.Arg326Gln)	5420	PODXL	Uncertain significance	rs869312172	RCV000210037\|RCV002515511;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MedGen:CN517202	7	131194170	131194170	7:g.131194170C>T	ClinGen:CA353466	C3160718 168600 Parkinson disease, late-onset;
NM_002778.4(PSAP):c.470A>G (p.Asn157Ser)	5660	PSAP	Uncertain significance	rs756379007	RCV001836944\|RCV002554808;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73588740	73588740	10:g.73588740T>C	-
NM_005460.4(SNCAIP):c.1861C>T (p.Arg621Cys)	9627	SNCAIP	Likely benign	rs28937592	RCV000006451\|RCV000314385\|RCV000894183;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602\|MedGen:CN239308\|MedGen:CN517202	5	121786403	121786403	5:g.121786403C>T	ClinGen:CA253762,UniProtKB:Q9Y6H5#VAR_025667,OMIM:603779.0001	CN239308 Parkinson Disease, Dominant/Recessive;
NM_018206.6(VPS35):c.1576C>T (p.Arg526Cys)	55737	VPS35	Uncertain significance	rs398124658	RCV000082874;	N	MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602	16	46702913	46702913	NC_000016.9:g.46702913G>A	ClinGen:CA267231	C3160718 168600 Parkinson disease, late-onset;

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