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Gene: SLC6A3 (solute carrier family 6 member 3) Homo sapiens

Analyze

Symbol:

SLC6A3

Name:

solute carrier family 6 member 3

RGD ID:

733809

HGNC Page

HGNC:11049

Description:

Enables dopamine:sodium symporter activity. Involved in dopamine uptake. Acts upstream of or within monoamine transport. Located in several cellular components, including cell surface; membrane raft; and neuronal cell body. Part of flotillin complex. Implicated in attention deficit hyperactivity disorder; classic dopamine transporter deficiency syndrome; mild cognitive impairment; nicotine dependence; and obesity.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DA transporter; DAT; DAT1; dopamine transporter 1; PKDYS; PKDYS1; sodium-dependent dopamine transporter; solute carrier family 6 (neurotransmitter transporter), member 3; solute carrier family 6 (neurotransmitter transporter, dopamine), member 3; solute carrier family 6, member 3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	1,392,794 - 1,445,440 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	1,392,794 - 1,445,440 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	1,392,909 - 1,445,555 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	1,445,909 - 1,498,538 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	1,445,908 - 1,498,543	NCBI
Celera	5	1,429,610 - 1,484,220 (-)	NCBI		Celera
Cytogenetic Map	5	p15.33	NCBI
HuRef	5	1,373,680 - 1,426,892 (-)	NCBI		HuRef
CHM1_1	5	1,392,820 - 1,445,528 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	1,303,172 - 1,357,405 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

alcohol use disorder (EXP)

Alcohol Withdrawal Delirium (EXP)

Alcohol Withdrawal Seizures (EXP)

amphetamine abuse (EXP)

anxiety disorder (EXP)

attention deficit hyperactivity disorder (EXP,IAGP,ISS)

autosomal dominant dyskeratosis congenita 2 (IAGP)

classic dopamine transporter deficiency syndrome (IAGP)

Cocaine-Related Disorders (EXP)

Deglutition Disorders (IAGP)

dementia (EXP)

dopamine transporter deficiency syndrome (EXP,IAGP)

dyslexia (EXP)

genetic disease (IAGP)

Genetic Predisposition to Disease (EXP)

Gilles de la Tourette syndrome (ISS)

heroin dependence (ISO)

high grade glioma (ISO)

Hyperkinesis (EXP)

hyperprolactinemia (ISO)

hypertension (ISO)

Memory Disorders (EXP)

Micronuclei, Chromosome-Defective (EXP)

mild cognitive impairment (IAGP)

Nerve Degeneration (EXP)

nervous system disease (EXP)

nicotine dependence (IAGP)

obesity (IAGP)

Paranoid Disorders (EXP)

Parkinson's disease (EXP)

Parkinsonism (ISO)

schizophrenia (EXP,IAGP,ISS)

sleep disorder (EXP)

substance-induced psychosis (EXP)

tic disorder (EXP)

Weight Gain (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(20S)-ginsenoside Rg3 (ISO)

(R)-noradrenaline (EXP)

(R)-octopamine (EXP)

(S)-amphetamine (EXP,ISO)

(S)-naringenin (ISO)

(S)-nicotine (ISO)

1,2-dimethylhydrazine (ISO)

1-(2-(diphenylmethoxy)ethyl)-4-(2-(4-azido-3-iodophenyl)ethyl)piperazine (ISO)

1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine (ISO)

1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile (EXP,ISO)

1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ISO)

17beta-estradiol (EXP,ISO)

17beta-estradiol 3-benzoate (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,5-dimethoxy-4-bromophenethylamine (EXP)

2-aminopropiophenone (ISO)

2-phenylethylamine (EXP)

3,4-methylenedioxymethamphetamine (EXP)

3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

4-[2-(diphenylmethoxy)ethyl]-1-[(4-azidophenyl)-methyl]-piperidine (ISO)

4-nitrotoluene (ISO)

7-NITROINDAZOLE (ISO)

acrylamide (ISO)

albiflorin (ISO)

alcohol (ISO)

all-trans-retinoic acid (EXP)

alpha,alpha-trehalose (ISO)

aluminium hydroxide (EXP)

AM-251 (ISO)

aminorex (ISO)

ammonium chloride (ISO)

amphetamine (EXP,ISO)

Aroclor 1254 (ISO)

arsenite(3-) (EXP,ISO)

atrazine (ISO)

Azoxymethane (ISO)

benzatropine (EXP)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

bupropion (EXP)

butyric acid (ISO)

cadmium dichloride (EXP)

caffeine (EXP,ISO)

calcitriol (EXP)

cannabidiol (ISO)

carbamazepine (EXP)

CGP 52608 (EXP)

chlorpyrifos (ISO)

citalopram (EXP,ISO)

clozapine (EXP)

cocaine (EXP,ISO)

crocidolite asbestos (EXP)

curcumin (EXP)

cyhalothrin (ISO)

DDD (ISO)

DDE (ISO)

DDT (ISO)

deguelin (EXP)

dextran sulfate (ISO)

diazinon (ISO)

dieldrin (ISO)

diethyldithiocarbamic acid (ISO)

diethylstilbestrol (ISO)

dihydro-beta-erythroidine (ISO)

dithionite(2-) (ISO)

dopamine (EXP,ISO)

elemental selenium (ISO)

endosulfan (ISO)

epoxiconazole (ISO)

estrone (ISO)

ethanol (ISO)

fluoxetine (EXP,ISO)

fulvestrant (EXP)

ganglioside GM1 (ISO)

geraniol (ISO)

glyburide (ISO)

glyphosate (ISO)

haloperidol (ISO)

heptachlor (ISO)

herbicide (ISO)

ibogaine (EXP)

ibuprofen (ISO)

iron atom (ISO)

iron(0) (ISO)

isoliquiritigenin (ISO)

ketamine (EXP)

linalool (ISO)

lipopolysaccharide (ISO)

LY294002 (ISO)

maneb (EXP,ISO)

manganese atom (EXP,ISO)

manganese(0) (EXP,ISO)

manganese(II) chloride (ISO)

Mazindol (EXP,ISO)

Mecamylamine (ISO)

melatonin (ISO)

melittin (EXP)

mephedrone (ISO)

mepyramine (EXP)

methamphetamine (EXP,ISO)

methapyrilene (EXP)

methcathinone (EXP)

methoxychlor (ISO)

methylmercury chloride (ISO)

methylphenidate (EXP,ISO)

minocycline (ISO)

modafinil (EXP,ISO)

monensin A (EXP)

mono(2-ethylhexyl) phthalate (EXP)

n-[4-(3-iodo-4-azidophenyl)butyl]-2beta-carbomethoxy-3beta-(4-chlorophenyl)tropane (ISO)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (EXP)

N-ethyl-N-nitrosourea (ISO)

N-methyl-4-phenylpyridinium (EXP,ISO)

naltrexone (EXP,ISO)

nicotine (ISO)

nomifensine (EXP,ISO)

Nonylphenol (ISO)

octopamine (EXP)

oleic acid (ISO)

oxidopamine (EXP,ISO)

paraquat (EXP,ISO)

permethrin (EXP,ISO)

phentermine (ISO)

phorbol 13-acetate 12-myristate (EXP)

picoxystrobin (EXP)

piperazines (EXP)

piperidines (EXP)

pirinixic acid (EXP,ISO)

probenecid (ISO)

propofol (ISO)

quinolinic acid (ISO)

quinpirole (EXP,ISO)

raloxifene (ISO)

reboxetine (ISO)

reserpine (ISO)

resveratrol (ISO)

rotenone (EXP,ISO)

rottlerin (ISO)

SCH 23390 (ISO)

selenium atom (ISO)

serotonin (EXP)

simazine (ISO)

staurosporine (EXP)

sulpiride (EXP,ISO)

tamoxifen (ISO)

telmisartan (ISO)

testosterone (EXP)

tetrachloromethane (ISO)

Theaflavin 3,3'-digallate (EXP)

thifluzamide (EXP)

thimerosal (EXP)

titanium dioxide (ISO)

toluene (ISO)

trichostatin A (ISO)

triphenyl phosphate (ISO)

tryptamine (EXP)

tyramine (EXP)

valproic acid (EXP,ISO)

vanoxerine dihydrochloride (EXP,ISO)

vinclozolin (ISO)

vorinostat (EXP)

WIN 55212-2 (ISO)

wortmannin (EXP)

zinc atom (EXP,ISO)

zinc sulfate (ISO)

zinc(0) (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adenohypophysis development (IEA,ISO)

amino acid transport (IBA)

cognition (IEA,ISO)

dopamine biosynthetic process (IEA,ISO)

dopamine catabolic process (IEA,ISO)

dopamine transport (IDA,IEA,ISO)

dopamine uptake (IDA,IEA,ISS)

dopamine uptake involved in synaptic transmission (TAS)

hyaloid vascular plexus regression (IEA,ISS)

lactation (IEA,ISO)

locomotory behavior (IEA,ISO)

monoamine transport (IDA)

neurotransmitter transport (IEA,ISS)

neurotransmitter uptake (IEA)

norepinephrine uptake (IEA)

obsolete response to organic cyclic compound (IEA)

positive regulation of multicellular organism growth (IEA,ISO)

prepulse inhibition (IEA,ISO)

regulation of dopamine metabolic process (IEA,ISO)

response to cAMP (IEA,ISO)

response to cocaine (IEA,ISO)

response to ethanol (IEA,ISO)

response to iron ion (IEA,ISO)

response to nicotine (IEA,ISO)

response to xenobiotic stimulus (IEA,ISO)

sensory perception of smell (IEA,ISO)

sodium ion transmembrane transport (IBA)

transmembrane transport (IEA)

Cellular Component

axon (IDA,IEA)

axon terminus (IEA)

cell projection (IEA)

cell surface (IDA,IEA)

cytoplasm (TAS)

dopaminergic synapse (IEA,ISO)

flotillin complex (IDA)

membrane (TAS)

membrane raft (IDA)

neuron projection (IDA,IEA)

neuronal cell body (IDA)

plasma membrane (IBA,IDA,IEA,TAS)

postsynaptic membrane (IEA,ISO)

presynaptic membrane (IEA,ISO)

Molecular Function

amine binding (IEA,ISO)

dopamine binding (IEA)

dopamine:sodium symporter activity (IDA,IEA,IMP,ISO)

heterocyclic compound binding (IEA,ISO)

metal ion binding (IEA)

monoamine transmembrane transporter activity (IDA,IEA,ISS,TAS)

neurotransmitter transmembrane transporter activity (IEA,ISS)

norepinephrine:sodium symporter activity (IEA)

protease binding (IEA,ISO)

protein binding (IPI)

protein phosphatase 2A binding (IEA,ISO)

protein-containing complex binding (IEA,ISO)

signaling receptor binding (IEA,ISO)

symporter activity (IEA)

transmembrane transporter activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

alfentanil pharmacodynamics pathway (EXP)

bupivacaine pharmacodynamics pathway (EXP)

buprenorphine pharmacodynamics pathway (EXP)

chloroprocaine pharmacodynamics pathway (EXP)

citalopram pharmacodynamics pathway (EXP)

cocaine pharmacodynamics pathway (EXP)

codeine and morphine pharmacodynamics pathway (EXP)

desipramine pharmacodynamics pathway (EXP)

diphenoxylate pharmacodynamics pathway (EXP)

escitalopram pharmacodynamics pathway (EXP)

ethylmorphine pharmacodynamics pathway (EXP)

fentanyl pharmacodynamics pathway (EXP)

fluoxetine pharmacodynamics pathway (EXP)

heroin pharmacodynamics pathway (EXP)

hydrocodone pharmacodynamics pathway (EXP)

hydromorphone pharmacodynamics pathway (EXP)

imipramine pharmacodynamics pathway (EXP)

levacetylmethadol pharmacodynamics pathway (EXP)

levobupivacaine phgarmacodynamics pathway (EXP)

levorphanol pharmacodynamics pathway (EXP)

lidocaine pharmacodynamics pathway (EXP)

mepivacaine pharmacodynamics pathway (EXP)

methadone pharmacodynamics pathway (EXP)

nalbuphine pharmacodynamics pathway (EXP)

naloxone pharmacodynamics pathway (EXP)

naltrexone pharmacodynamics pathway (EXP)

nicotine pharmacodynamics pathway (EXP)

oxybuprocaine pharmacodynamics pathway (EXP)

oxycodone pharmacodynamics pathway (EXP)

oxymorphone pharmacodynamics pathway (EXP)

Parkinson's disease pathway (IEA)

pentazocine pharmacodynamics pathway (EXP)

prilocaine pharmacodynamics pathway (EXP)

procaine pharmacodynamics pathway (EXP)

remifentanil pharmacodynamics pathway (EXP)

ropivacaine pharmacodynamics pathway (EXP)

tramadol pharmacodynamics pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating carboxylic acid concentration (IAGP)

Abnormal pyramidal sign (IAGP)

Abnormal pyramidal tract morphology (IAGP)

Absent speech (IAGP)

Autosomal recessive inheritance (IAGP)

Axial hypotonia (IAGP)

Bradykinesia (IAGP)

Cerebral palsy (IAGP)

Chorea (IAGP)

Cogwheel rigidity (IAGP)

Constipation (IAGP)

Delayed gross motor development (IAGP)

Dyskinesia (IAGP)

Dysphagia (IAGP)

Dystonia (IAGP)

Feeding difficulties (IAGP)

Gastroesophageal reflux (IAGP)

Global developmental delay (IAGP)

Hyperkinetic movements (IAGP)

Hypertonia (IAGP)

Hypokinesia (IAGP)

Hypomimic face (IAGP)

Impulsivity (IAGP)

Increased CSF homovanillic acid concentration (IAGP)

Infantile onset (IAGP)

Irritability (IAGP)

Limb dystonia (IAGP)

Limb hypertonia (IAGP)

Neonatal onset (IAGP)

Ocular flutter (IAGP)

Oculogyric crisis (IAGP)

Orofacial dyskinesia (IAGP)

Oromandibular dystonia (IAGP)

Parkinsonism (IAGP)

Progressive (IAGP)

Pulmonary fibrosis (IAGP)

Rigidity (IAGP)

Schizophrenia (IAGP)

Tremor (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Dopamine transporter genotype as a risk factor for obesity in African-American smokers.	Epstein LH, etal., Obes Res. 2002 Dec;10(12):1232-40.
2.	Dopamine DRD2/ANKK1 Taq1A and DAT1 VNTR polymorphisms are associated with a cognitive flexibility profile in pathological gamblers.	Fagundo AB, etal., J Psychopharmacol. 2014 Dec;28(12):1170-7. doi: 10.1177/0269881114551079. Epub 2014 Sep 18.
3.	Role of serotonin in the paradoxical calming effect of psychostimulants on hyperactivity.	Gainetdinov RR, etal., Science 1999 Jan 15;283(5400):397-401.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	Role of dopamine transporter genotype and maternal prenatal smoking in childhood hyperactive-impulsive, inattentive, and oppositional behaviors.	Kahn RS, etal., J Pediatr 2003 Jul;143(1):104-10.
6.	The association of dopamine pathway gene score, nicotine dependence and smoking cessation in a rural male population of Shandong, China.	Li S, etal., Am J Addict. 2016 Sep;25(6):493-8. doi: 10.1111/ajad.12421. Epub 2016 Aug 4.
7.	Changes in Expression of Dopamine, Its Receptor, and Transporter in Nucleus Accumbens of Heroin-Addicted Rats with Brain-Derived Neurotrophic Factor (BDNF) Overexpression.	Li Y, etal., Med Sci Monit. 2017 Jun 9;23:2805-2815.
8.	Alteration of striatal dopaminergic function induced by glioma development: a microdialysis and immunohistological study in the rat striatum.	Lonjon M, etal., Neurosci Lett. 2004 Jan 9;354(2):131-4.
9.	Obesity is associated with genetic variants that alter dopamine availability.	Need AC, etal., Ann Hum Genet. 2006 May;70(Pt 3):293-303.
10.	Genetic influence of dopamine receptor, dopamine transporter, and nicotine metabolism on smoking cessation and nicotine dependence in a Japanese population.	Ohmoto M, etal., BMC Genet. 2014 Dec 20;15:151. doi: 10.1186/s12863-014-0151-2.
11.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
12.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
13.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
14.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
16.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17.	Grafts of adult subependymal zone neuronal progenitor cells rescue hemiparkinsonian behavioral decline.	Richardson RM, etal., Brain Res. 2005 Jan 25;1032(1-2):11-22.
18.	A Pilot Study of Demographic and Dopaminergic Genetic Contributions to Weight Change in Kidney Transplant Recipients.	Stanfill A, etal., PLoS One. 2015 Sep 25;10(9):e0138885. doi: 10.1371/journal.pone.0138885. eCollection 2015.
19.	Affinity labeling the dopamine transporter ligand binding site.	Vaughan RA, etal., J Neurosci Methods. 2005 Apr 15;143(1):33-40. Epub 2004 Dec 2.
20.	Studies on the regulatory effect of Peony-Glycyrrhiza Decoction on prolactin hyperactivity and underlying mechanism in hyperprolactinemia rat model.	Wang D, etal., Neurosci Lett. 2015 Oct 8;606:60-5. doi: 10.1016/j.neulet.2015.08.024. Epub 2015 Aug 18.
21.	Brain dopamine transporter in spontaneously hypertensive rats.	Watanabe Y, etal., J Nucl Med. 1997 Mar;38(3):470-4.

Additional References at PubMed

PMID:1353885	PMID:1359373	PMID:1406597	PMID:7637582	PMID:7717410	PMID:8302271	PMID:8628395	PMID:9300814	PMID:9398650	PMID:9703165	PMID:9837830	PMID:10363710
PMID:10375632	PMID:10391209	PMID:10823899	PMID:10889531	PMID:11093780	PMID:11104840	PMID:11140838	PMID:11165777	PMID:11220753	PMID:11239904	PMID:11244477	PMID:11292651
PMID:11304827	PMID:11343649	PMID:11378848	PMID:11449401	PMID:11505915	PMID:11558224	PMID:11774209	PMID:11798784	PMID:11803442	PMID:11803445	PMID:11807408	PMID:11820798
PMID:11834311	PMID:11911442	PMID:11959130	PMID:11989984	PMID:12149916	PMID:12172219	PMID:12173460	PMID:12177201	PMID:12210886	PMID:12215242	PMID:12232785	PMID:12401557
PMID:12422069	PMID:12429746	PMID:12453630	PMID:12457396	PMID:12459514	PMID:12464618	PMID:12465073	PMID:12477932	PMID:12513948	PMID:12579508	PMID:12605102	PMID:12630565
PMID:12650952	PMID:12658362	PMID:12660802	PMID:12672538	PMID:12686408	PMID:12707931	PMID:12707943	PMID:12708251	PMID:12740596	PMID:12746456	PMID:12773538	PMID:12815660
PMID:12859681	PMID:12874502	PMID:12898575	PMID:12931138	PMID:12947560	PMID:12958153	PMID:14519759	PMID:14550771	PMID:14570538	PMID:14584093	PMID:14597628	PMID:14660644
PMID:14681904	PMID:14685824	PMID:14732464	PMID:14732864	PMID:14756560	PMID:14978671	PMID:15024013	PMID:15024426	PMID:15069467	PMID:15091313	PMID:15094788	PMID:15123239
PMID:15135042	PMID:15148564	PMID:15190232	PMID:15193761	PMID:15202772	PMID:15210531	PMID:15211638	PMID:15229055	PMID:15274029	PMID:15370155	PMID:15380858	PMID:15381926
PMID:15492001	PMID:15505207	PMID:15542698	PMID:15567077	PMID:15602501	PMID:15605097	PMID:15608954	PMID:15683546	PMID:15708296	PMID:15722958	PMID:15724142	PMID:15763138
PMID:15768394	PMID:15809660	PMID:15823165	PMID:15827573	PMID:15845322	PMID:15872345	PMID:15924135	PMID:15940306	PMID:15993876	PMID:15996968	PMID:16024787	PMID:16041244
PMID:16082688	PMID:16082693	PMID:16103889	PMID:16109590	PMID:16109712	PMID:16110277	PMID:16123773	PMID:16125912	PMID:16139170	PMID:16165273	PMID:16168728	PMID:16171832
PMID:16178930	PMID:16178931	PMID:16201143	PMID:16216085	PMID:16222334	PMID:16237680	PMID:16261167	PMID:16309561	PMID:16342279	PMID:16368111	PMID:16389200	PMID:16389711
PMID:16402340	PMID:16406146	PMID:16424823	PMID:16526026	PMID:16526040	PMID:16537431	PMID:16545000	PMID:16569110	PMID:16585476	PMID:16604301	PMID:16611807	PMID:16623961
PMID:16671078	PMID:16702979	PMID:16710758	PMID:16712949	PMID:16741944	PMID:16760197	PMID:16782077	PMID:16783497	PMID:16818870	PMID:16885233	PMID:16894395	PMID:16917950
PMID:16930369	PMID:16963468	PMID:17023870	PMID:17028370	PMID:17042887	PMID:17044099	PMID:17044101	PMID:17063150	PMID:17079728	PMID:17109713	PMID:17120049	PMID:17130883
PMID:17135598	PMID:17150335	PMID:17157268	PMID:17171650	PMID:17175058	PMID:17187291	PMID:17191306	PMID:17192955	PMID:17225991	PMID:17245411	PMID:17250655	PMID:17255098
PMID:17260170	PMID:17264803	PMID:17267664	PMID:17314918	PMID:17316573	PMID:17325714	PMID:17380124	PMID:17392738	PMID:17403983	PMID:17413453	PMID:17427187	PMID:17427194
PMID:17432702	PMID:17439486	PMID:17440935	PMID:17440951	PMID:17440978	PMID:17449448	PMID:17449559	PMID:17466074	PMID:17483451	PMID:17485610	PMID:17500623	PMID:17501935
PMID:17508355	PMID:17508996	PMID:17519329	PMID:17525955	PMID:17526637	PMID:17539957	PMID:17549062	PMID:17579365	PMID:17579368	PMID:17579611	PMID:17582621	PMID:17608284
PMID:17621383	PMID:17633563	PMID:17654295	PMID:17671965	PMID:17679637	PMID:17689985	PMID:17690944	PMID:17692827	PMID:17704152	PMID:17705902	PMID:17711354	PMID:17873367
PMID:17893706	PMID:17907820	PMID:17928119	PMID:17934207	PMID:17948872	PMID:17955457	PMID:17955458	PMID:17965994	PMID:17979508	PMID:18004640	PMID:18023044	PMID:18045777
PMID:18046306	PMID:18053732	PMID:18070248	PMID:18081165	PMID:18088380	PMID:18094849	PMID:18165969	PMID:18174826	PMID:18181793	PMID:18188752	PMID:18197080	PMID:18197081
PMID:18206700	PMID:18214864	PMID:18214865	PMID:18216182	PMID:18239643	PMID:18270970	PMID:18327668	PMID:18331164	PMID:18361424	PMID:18366104	PMID:18374902	PMID:18393256
PMID:18404133	PMID:18426798	PMID:18434601	PMID:18434921	PMID:18444252	PMID:18446263	PMID:18468730	PMID:18504048	PMID:18552399	PMID:18553389	PMID:18553640	PMID:18559107
PMID:18563706	PMID:18563707	PMID:18580852	PMID:18583979	PMID:18588943	PMID:18617632	PMID:18636124	PMID:18665883	PMID:18668530	PMID:18676680	PMID:18690117	PMID:18690118
PMID:18704100	PMID:18720903	PMID:18729135	PMID:18762727	PMID:18769827	PMID:18779819	PMID:18788325	PMID:18802919	PMID:18802924	PMID:18810510	PMID:18821566	PMID:18826446
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PMID:19142409	PMID:19146920	PMID:19152006	PMID:19156168	PMID:19170196	PMID:19176830	PMID:19183461	PMID:19193883	PMID:19196467	PMID:19247849	PMID:19288168	PMID:19304505
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Genomics

Comparative Map Data

SLC6A3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	1,392,794 - 1,445,440 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	1,392,794 - 1,445,440 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	1,392,909 - 1,445,555 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	1,445,909 - 1,498,538 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	1,445,908 - 1,498,543	NCBI
Celera	5	1,429,610 - 1,484,220 (-)	NCBI		Celera
Cytogenetic Map	5	p15.33	NCBI
HuRef	5	1,373,680 - 1,426,892 (-)	NCBI		HuRef
CHM1_1	5	1,392,820 - 1,445,528 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	1,303,172 - 1,357,405 (-)	NCBI		T2T-CHM13v2.0

Slc6a3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	73,684,270 - 73,726,791 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	73,684,866 - 73,726,791 (+)	Ensembl		GRCm39 Ensembl
GRCm38	13	73,536,128 - 73,578,672 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	73,536,747 - 73,578,672 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	73,674,195 - 73,716,120 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	74,002,749 - 74,044,674 (+)	NCBI		MGSCv36	mm8
Celera	13	75,865,546 - 75,907,463 (+)	NCBI		Celera
Cytogenetic Map	13	C1	NCBI
cM Map	13	40.1	NCBI

Slc6a3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	31,537,990 - 31,578,962 (-)	NCBI		GRCr8
mRatBN7.2	1	29,709,443 - 29,750,413 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	29,709,443 - 29,750,413 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	29,510,573 - 29,551,545 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	35,510,418 - 35,551,390 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	29,711,198 - 29,752,170 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	32,323,011 - 32,363,983 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	32,321,580 - 32,363,983 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	33,745,060 - 33,788,878 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	30,516,568 - 30,557,540 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	30,518,078 - 30,558,861 (-)	NCBI
Celera	1	28,357,426 - 28,397,883 (-)	NCBI		Celera
Cytogenetic Map	1	p11	NCBI

Slc6a3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955504	721,429 - 747,630 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955504	721,470 - 747,553 (-)	NCBI	ChiLan1.0	ChiLan1.0

SLC6A3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	1,659,752 - 1,712,599 (-)	NCBI		NHGRI_mPanPan1-v2
PanPan1.1 Ensembl	5	1,437,567 - 1,488,829 (-)	Ensembl	panpan1.1		panPan2

SLC6A3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	34	11,209,118 - 11,245,456 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	34	11,210,939 - 11,246,742 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	34	15,719,083 - 15,755,282 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	34	11,109,747 - 11,147,167 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	34	11,109,762 - 11,147,159 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	34	11,160,852 - 11,196,981 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	34	11,139,913 - 11,176,047 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	34	11,350,821 - 11,387,021 (+)	NCBI		UU_Cfam_GSD_1.0

Slc6a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	244,198,128 - 244,239,922 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936815	359,775 - 400,690 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936815	359,775 - 400,690 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC6A3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	16	79,186,108 - 79,220,297 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	16	79,186,114 - 79,220,302 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	16	85,853,611 - 85,887,787 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC6A3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	4	1,209,013 - 1,258,797 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	4	1,209,019 - 1,258,866 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	35,775,947 - 35,824,591 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc6a3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624751	694,099 - 719,465 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624751	694,165 - 720,287 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SLC6A3
465 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
SLC6A3*9	microsatellite	Nicotine dependence, protection against [RCV000018247]	Chr5:1393899..1393900 [GRCh38] Chr5:1394014..1394015 [GRCh37] Chr5:5p15.33	pathogenic\|protective
NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002232079]	Chr5:1394755 [GRCh38] Chr5:1394870 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000546376]	Chr5:1443084 [GRCh38] Chr5:1443199 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.810C>T (p.Ala270=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000530240]\|not provided [RCV001683577]	Chr5:1420686 [GRCh38] Chr5:1420801 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1036G>A (p.Ala346Thr)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000545603]	Chr5:1414811 [GRCh38] Chr5:1414926 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.1269+1G>A	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000022531]\|Parkinsonism-dystonia, infantile [RCV003593863]\|not provided [RCV000493130]	Chr5:1411242 [GRCh38] Chr5:1411357 [GRCh37] Chr5:5p15.33	pathogenic
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000018249]	Chr5:1414744 [GRCh38] Chr5:1414859 [GRCh37] Chr5:5p15.33	pathogenic
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000018250]	Chr5:1411328 [GRCh38] Chr5:1411443 [GRCh37] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	copy number loss	See cases [RCV000050295]	Chr5:49978..15678451 [GRCh38] Chr5:50093..15678560 [GRCh37] Chr5:103093..15731560 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	copy number loss	See cases [RCV000050885]	Chr5:22149..3404244 [GRCh38] Chr5:22149..3404358 [GRCh37] Chr5:75149..3457358 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	copy number loss	See cases [RCV000050655]	Chr5:22149..1826256 [GRCh38] Chr5:22149..1826370 [GRCh37] Chr5:75149..1879370 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	copy number loss	See cases [RCV000051100]	Chr5:49978..4014647 [GRCh38] Chr5:50093..4014761 [GRCh37] Chr5:103093..4067761 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	copy number gain	See cases [RCV000051811]	Chr5:54839..35680845 [GRCh38] Chr5:54954..35680947 [GRCh37] Chr5:107954..35716704 [NCBI36] Chr5:5p15.33-13.2	pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3	copy number gain	See cases [RCV000051808]	Chr5:21949..8872509 [GRCh38] Chr5:21949..8872621 [GRCh37] Chr5:74949..8925621 [NCBI36] Chr5:5p15.33-15.31	pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3	copy number gain	See cases [RCV000051809]	Chr5:49778..8872509 [GRCh38] Chr5:49893..8872621 [GRCh37] Chr5:102893..8925621 [NCBI36] Chr5:5p15.33-15.31	pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	copy number gain	See cases [RCV000051810]	Chr5:54839..45649861 [GRCh38] Chr5:54954..45649963 [GRCh37] Chr5:107954..45685720 [NCBI36] Chr5:5p15.33-12	pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	copy number loss	See cases [RCV000053397]	Chr5:22149..7213275 [GRCh38] Chr5:22149..7213388 [GRCh37] Chr5:75149..7266388 [NCBI36] Chr5:5p15.33-15.31	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	copy number loss	See cases [RCV000053398]	Chr5:22149..23132046 [GRCh38] Chr5:22149..23132155 [GRCh37] Chr5:75149..23167912 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	copy number loss	See cases [RCV000053399]	Chr5:22149..12004091 [GRCh38] Chr5:22149..12004203 [GRCh37] Chr5:75149..12057203 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	copy number loss	See cases [RCV000053400]	Chr5:22149..3556942 [GRCh38] Chr5:22149..3557056 [GRCh37] Chr5:75149..3610056 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]\|See cases [RCV000053401]	Chr5:22149..17425613 [GRCh38] Chr5:22149..17425722 [GRCh37] Chr5:75149..17478722 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	copy number loss	See cases [RCV000053416]	Chr5:22149..10044087 [GRCh38] Chr5:22149..10044199 [GRCh37] Chr5:75149..10097199 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]\|See cases [RCV000053417]	Chr5:22149..4580491 [GRCh38] Chr5:22149..4580604 [GRCh37] Chr5:75149..4633604 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]\|See cases [RCV000053418]	Chr5:22149..15995341 [GRCh38] Chr5:22149..15995450 [GRCh37] Chr5:75149..16048450 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	copy number loss	See cases [RCV000053419]	Chr5:22419..19280892 [GRCh38] Chr5:22419..19281001 [GRCh37] Chr5:75419..19316758 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	copy number loss	See cases [RCV000053420]	Chr5:37694..2746908 [GRCh38] Chr5:37692..2747022 [GRCh37] Chr5:90692..2800022 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	copy number loss	See cases [RCV000053421]	Chr5:37694..2913205 [GRCh38] Chr5:37692..2913319 [GRCh37] Chr5:90692..2966319 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1	copy number loss	See cases [RCV000053422]	Chr5:49778..16908798 [GRCh38] Chr5:49893..16908907 [GRCh37] Chr5:102893..16961907 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1	copy number loss	See cases [RCV000053423]	Chr5:49778..4768868 [GRCh38] Chr5:49893..4768981 [GRCh37] Chr5:102893..4821981 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1	copy number loss	See cases [RCV000053424]	Chr5:49778..19125522 [GRCh38] Chr5:49893..19125631 [GRCh37] Chr5:102893..19161388 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	copy number loss	See cases [RCV000053444]	Chr5:54839..5603401 [GRCh38] Chr5:54954..5603514 [GRCh37] Chr5:107954..5656514 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]\|See cases [RCV000053445]	Chr5:547757..26541238 [GRCh38] Chr5:547872..26541347 [GRCh37] Chr5:600872..26577104 [NCBI36] Chr5:5p15.33-14.1	pathogenic
NM_001044.4(SLC6A3):c.1076C>T (p.Ser359Phe)	single nucleotide variant	Malignant melanoma [RCV000066763]	Chr5:1414771 [GRCh38] Chr5:1414886 [GRCh37] Chr5:1467886 [NCBI36] Chr5:5p15.33	not provided
NM_001044.4(SLC6A3):c.258C>T (p.Phe86=)	single nucleotide variant	Malignant melanoma [RCV000066776]	Chr5:1442940 [GRCh38] Chr5:1443055 [GRCh37] Chr5:1496055 [NCBI36] Chr5:5p15.33	not provided
NM_001044.5(SLC6A3):c.1031+1G>A	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000083262]\|Parkinsonism-dystonia, infantile [RCV002228329]	Chr5:1416097 [GRCh38] Chr5:1416212 [GRCh37] Chr5:5p15.33	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000083263]	Chr5:1421997 [GRCh38] Chr5:1422112 [GRCh37] Chr5:5p15.33	pathogenic
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000083264]\|Parkinsonism-dystonia, infantile [RCV001854451]	Chr5:1406226 [GRCh38] Chr5:1406341 [GRCh37] Chr5:5p15.33	pathogenic\|likely pathogenic\|uncertain significance
NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln)	single nucleotide variant	Inborn genetic diseases [RCV002547469]\|Parkinsonism-dystonia, infantile [RCV001348145]\|not provided [RCV004770085]	Chr5:1402926 [GRCh38] Chr5:1403041 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000625455]\|Parkinsonism-dystonia, infantile [RCV001521080]\|not provided [RCV001596983]\|not specified [RCV000180550]	Chr5:1411297 [GRCh38] Chr5:1411412 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1440C>T (p.Ala480=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002062069]\|not provided [RCV000597205]	Chr5:1409084 [GRCh38] Chr5:1409199 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	copy number gain	See cases [RCV000133788]	Chr5:22149..33418188 [GRCh38] Chr5:22149..33418294 [GRCh37] Chr5:75149..33454051 [NCBI36] Chr5:5p15.33-13.3	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	copy number loss	See cases [RCV000133796]	Chr5:22149..12819999 [GRCh38] Chr5:22149..12820111 [GRCh37] Chr5:75149..12873111 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	copy number loss	See cases [RCV000133768]	Chr5:22149..25699605 [GRCh38] Chr5:22149..25699714 [GRCh37] Chr5:75149..25735471 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	copy number loss	See cases [RCV000134873]	Chr5:22149..27788616 [GRCh38] Chr5:22149..27788723 [GRCh37] Chr5:75149..27824480 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	copy number loss	See cases [RCV000135668]	Chr5:22149..32248010 [GRCh38] Chr5:22149..32248116 [GRCh37] Chr5:75149..32283873 [NCBI36] Chr5:5p15.33-13.3	pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	copy number loss	See cases [RCV000135878]	Chr5:49978..30112535 [GRCh38] Chr5:50093..30112642 [GRCh37] Chr5:103093..30148399 [NCBI36] Chr5:5p15.33-13.3	pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	copy number gain	See cases [RCV000135453]	Chr5:49978..46114984 [GRCh38] Chr5:50093..46115086 [GRCh37] Chr5:103093..46150843 [NCBI36] Chr5:5p15.33-11	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	copy number loss	See cases [RCV000136556]	Chr5:22149..16584575 [GRCh38] Chr5:22149..16584684 [GRCh37] Chr5:75149..16637684 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33(chr5:924086-1544344)x3	copy number gain	See cases [RCV000135933]	Chr5:924086..1544344 [GRCh38] Chr5:924201..1544459 [GRCh37] Chr5:977201..1597459 [NCBI36] Chr5:5p15.33	uncertain significance
GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	copy number loss	See cases [RCV000136900]	Chr5:22149..1429599 [GRCh38] Chr5:22149..1429714 [GRCh37] Chr5:75149..1482714 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	copy number loss	See cases [RCV000137072]	Chr5:22149..27485619 [GRCh38] Chr5:22149..27485726 [GRCh37] Chr5:75149..27521483 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	copy number gain	See cases [RCV000136943]	Chr5:22149..15851376 [GRCh38] Chr5:22149..15851485 [GRCh37] Chr5:75149..15904485 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	copy number gain	See cases [RCV000137682]	Chr5:22149..28075106 [GRCh38] Chr5:22149..28075213 [GRCh37] Chr5:75149..28110970 [NCBI36] Chr5:5p15.33-14.1	pathogenic\|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	copy number loss	See cases [RCV000137165]	Chr5:22149..28429241 [GRCh38] Chr5:22149..28429348 [GRCh37] Chr5:75149..28465105 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	copy number loss	See cases [RCV000138116]	Chr5:22149..22775295 [GRCh38] Chr5:22149..22775404 [GRCh37] Chr5:75149..22811161 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	copy number loss	See cases [RCV000138215]	Chr5:22149..6060102 [GRCh38] Chr5:22149..6060215 [GRCh37] Chr5:75149..6113215 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	copy number loss	See cases [RCV000138099]	Chr5:22149..27187950 [GRCh38] Chr5:22149..27188057 [GRCh37] Chr5:75149..27223814 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	copy number loss	See cases [RCV000137942]	Chr5:22149..4260151 [GRCh38] Chr5:22149..4260264 [GRCh37] Chr5:75149..4313264 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	copy number loss	See cases [RCV000137884]	Chr5:22149..11429258 [GRCh38] Chr5:22149..11429370 [GRCh37] Chr5:75149..11482370 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	copy number loss	See cases [RCV000137915]	Chr5:22149..11530391 [GRCh38] Chr5:22149..11530503 [GRCh37] Chr5:75149..11583503 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	copy number gain	See cases [RCV000137806]	Chr5:22149..23607053 [GRCh38] Chr5:22149..23607162 [GRCh37] Chr5:75149..23642919 [NCBI36] Chr5:5p15.33-14.2	pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	copy number loss	See cases [RCV000138888]	Chr5:22149..35831538 [GRCh38] Chr5:22149..35831640 [GRCh37] Chr5:75149..35867397 [NCBI36] Chr5:5p15.33-13.2	pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	copy number gain	See cases [RCV000138780]	Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	copy number loss	See cases [RCV000138553]	Chr5:22149..21217120 [GRCh38] Chr5:22149..21217229 [GRCh37] Chr5:75149..21252986 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1	copy number loss	See cases [RCV000138288]	Chr5:22149..17788697 [GRCh38] Chr5:22149..17788806 [GRCh37] Chr5:75149..17824563 [NCBI36] Chr5:5p15.33-15.1	likely benign
GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	copy number gain	See cases [RCV000139303]	Chr5:22149..2323943 [GRCh38] Chr5:22149..2324057 [GRCh37] Chr5:75149..2377057 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3619159)	copy number gain	See cases [RCV000139908]	Chr5:22149..3619159 [GRCh38] Chr5:22149..3619273 [GRCh37] Chr5:75149..3672273 [NCBI36] Chr5:5p15.33	uncertain significance
GRCh38/hg38 5p15.33(chr5:965217-1528677)x3	copy number gain	See cases [RCV000139630]	Chr5:965217..1528677 [GRCh38] Chr5:965332..1528792 [GRCh37] Chr5:1018332..1581792 [NCBI36] Chr5:5p15.33	likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	copy number loss	See cases [RCV000141225]	Chr5:22149..28589192 [GRCh38] Chr5:22149..28589299 [GRCh37] Chr5:75149..28625056 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	copy number loss	See cases [RCV000141244]	Chr5:22149..4833626 [GRCh38] Chr5:22149..4833739 [GRCh37] Chr5:75149..4886739 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	copy number loss	See cases [RCV000140964]	Chr5:22149..16930016 [GRCh38] Chr5:22149..16930125 [GRCh37] Chr5:75149..16983125 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	copy number loss	See cases [RCV000141930]	Chr5:113461..8875933 [GRCh38] Chr5:113576..8876045 [GRCh37] Chr5:166576..8929045 [NCBI36] Chr5:5p15.33-15.31	pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	copy number loss	See cases [RCV000141844]	Chr5:113461..33998289 [GRCh38] Chr5:113576..33998394 [GRCh37] Chr5:166576..34034151 [NCBI36] Chr5:5p15.33-13.2	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	copy number loss	See cases [RCV000141898]	Chr5:113461..6243977 [GRCh38] Chr5:113576..6244090 [GRCh37] Chr5:166576..6297090 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	copy number loss	See cases [RCV000142183]	Chr5:113461..14684362 [GRCh38] Chr5:113576..14684471 [GRCh37] Chr5:166576..14737471 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	copy number loss	See cases [RCV000143022]	Chr5:22149..21726360 [GRCh38] Chr5:22149..21726469 [GRCh37] Chr5:75149..21762226 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	copy number loss	See cases [RCV000143018]	Chr5:22149..5059896 [GRCh38] Chr5:22149..5060009 [GRCh37] Chr5:75149..5113009 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	copy number loss	See cases [RCV000142934]	Chr5:22149..27611163 [GRCh38] Chr5:22149..27611270 [GRCh37] Chr5:75149..27647027 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	copy number loss	See cases [RCV000142697]	Chr5:95128..5834551 [GRCh38] Chr5:95243..5834664 [GRCh37] Chr5:148243..5887664 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	copy number loss	See cases [RCV000142645]	Chr5:22149..26593891 [GRCh38] Chr5:22149..26594000 [GRCh37] Chr5:75149..26629757 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	copy number gain	See cases [RCV000142646]	Chr5:22149..1659135 [GRCh38] Chr5:22149..1659250 [GRCh37] Chr5:75149..1712250 [NCBI36] Chr5:5p15.33	pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	copy number loss	See cases [RCV000143332]	Chr5:22149..5102586 [GRCh38] Chr5:22149..5102699 [GRCh37] Chr5:75149..5155699 [NCBI36] Chr5:5p15.33-15.32	pathogenic
GRCh38/hg38 5p15.33(chr5:1285489-1400393)x3	copy number gain	See cases [RCV000143161]	Chr5:1285489..1400393 [GRCh38] Chr5:1285604..1400508 [GRCh37] Chr5:1338604..1453508 [NCBI36] Chr5:5p15.33	uncertain significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	copy number loss	See cases [RCV000148250]	Chr5:49978..15678451 [GRCh38] Chr5:50093..15678560 [GRCh37] Chr5:103093..15731560 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1	copy number loss	See cases [RCV000240157]	Chr5:79146..15509107 [GRCh37] Chr5:5p15.33-15.1	pathogenic
t(5;16)(p15.31;q23.1)	translocation	not provided [RCV000203391]	Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3	likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1	copy number loss	See cases [RCV000449075]	Chr5:113576..33493797 [GRCh37] Chr5:5p15.33-13.3	pathogenic
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000524904]\|Parkinsonism-dystonia, infantile [RCV000857879]\|not provided [RCV001546699]	Chr5:1432571 [GRCh38] Chr5:1432686 [GRCh37] Chr5:5p15.33	benign\|likely benign\|conflicting interpretations of pathogenicity
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	copy number loss	See cases [RCV000515550]	Chr5:25328..30672798 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3	copy number gain	not provided [RCV000234904]	Chr5:25328..19661628 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	copy number loss	5p partial monosomy syndrome [RCV000767709]	Chr5:140474..26906925 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	copy number gain	See cases [RCV000240016]	Chr5:22149..34041255 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1	copy number loss	See cases [RCV000240389]	Chr5:22149..13362684 [GRCh37] Chr5:5p15.33-15.2	pathogenic
NM_001044.5(SLC6A3):c.150G>T (p.Pro50=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000548298]\|not provided [RCV001637077]	Chr5:1443048 [GRCh38] Chr5:1443163 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000549120]\|not provided [RCV001618497]\|not specified [RCV000282441]	Chr5:1402958 [GRCh38] Chr5:1403073 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.330G>A (p.Gly110=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002059216]\|not provided [RCV000290679]	Chr5:1441447 [GRCh38] Chr5:1441562 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV001808742]\|Inborn genetic diseases [RCV002522038]\|Parkinsonism-dystonia, infantile [RCV000525246]\|See cases [RCV002252088]\|not provided [RCV000336306]	Chr5:1403013 [GRCh38] Chr5:1403128 [GRCh37] Chr5:5p15.33	uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	copy number gain	5p partial monosomy syndrome [RCV002280773]	Chr5:113576..29310520 [GRCh37] Chr5:5p15.33-13.3	pathogenic
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000532991]\|Parkinsonism-dystonia, infantile [RCV000858610]	Chr5:1414812 [GRCh38] Chr5:1414927 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001397024]\|SLC6A3-related disorder [RCV003980100]\|not provided [RCV000596665]	Chr5:1406272 [GRCh38] Chr5:1406387 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.360C>T (p.Leu120=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001394824]	Chr5:1441417 [GRCh38] Chr5:1441532 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000528991]\|not provided [RCV001712514]	Chr5:1406260 [GRCh38] Chr5:1406375 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.143C>G (p.Thr48Ser)	single nucleotide variant	not provided [RCV000592060]	Chr5:1443055 [GRCh38] Chr5:1443170 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln)	single nucleotide variant	Inborn genetic diseases [RCV002537212]\|Parkinsonism-dystonia, infantile [RCV002235003]	Chr5:1443046 [GRCh38] Chr5:1443161 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1156+8C>T	single nucleotide variant	not provided [RCV000733046]	Chr5:1414683 [GRCh38] Chr5:1414798 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.444C>A (p.Ile148=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001085802]\|not provided [RCV000732130]	Chr5:1432673 [GRCh38] Chr5:1432788 [GRCh37] Chr5:5p15.33	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001454541]\|SLC6A3-related disorder [RCV004757245]\|not provided [RCV000557546]	Chr5:1414767 [GRCh38] Chr5:1414882 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp)	single nucleotide variant	Inborn genetic diseases [RCV002527901]\|Parkinsonism-dystonia, infantile [RCV002232080]	Chr5:1432512 [GRCh38] Chr5:1432627 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000558916]\|SLC6A3-related disorder [RCV003915587]\|not provided [RCV001529755]	Chr5:1409721 [GRCh38] Chr5:1409836 [GRCh37] Chr5:5p15.33	benign\|likely benign
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1	copy number loss	See cases [RCV000449097]	Chr5:113576..16854340 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3	copy number gain	See cases [RCV000446077]	Chr5:113576..30279389 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1	copy number loss	See cases [RCV000447672]	Chr5:22149..24835567 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1	copy number loss	See cases [RCV000447679]	Chr5:22149..6112711 [GRCh37] Chr5:5p15.33-15.32	pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1	copy number loss	See cases [RCV000446974]	Chr5:113576..34372083 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1	copy number loss	See cases [RCV000447483]	Chr5:22149..9958240 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1	copy number loss	See cases [RCV000446677]	Chr5:22149..4641409 [GRCh37] Chr5:5p15.33-15.32	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1	copy number loss	See cases [RCV000446645]	Chr5:113576..17334977 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1	copy number loss	See cases [RCV000446523]	Chr5:113576..6737134 [GRCh37] Chr5:5p15.33-15.31	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1	copy number loss	See cases [RCV000446054]	Chr5:113576..27338567 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3	copy number gain	See cases [RCV000447632]	Chr5:113576..14238330 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33(chr5:22149-2965987)x1	copy number loss	See cases [RCV000446665]	Chr5:22149..2965987 [GRCh37] Chr5:5p15.33	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1	copy number loss	See cases [RCV000447462]	Chr5:113576..25948451 [GRCh37] Chr5:5p15.33-14.1	pathogenic
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000647221]\|Parkinsonism-dystonia, infantile [RCV001084900]\|SLC6A3-related disorder [RCV003902467]\|Tobacco addiction, susceptibility to [RCV000765817]\|not provided [RCV000422809]	Chr5:1432618 [GRCh38] Chr5:1432733 [GRCh37] Chr5:5p15.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 5p15.33-15.31(chr5:1359855-7263257)x1	copy number loss	See cases [RCV000445798]	Chr5:1359855..7263257 [GRCh37] Chr5:5p15.33-15.31	likely pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	copy number loss	See cases [RCV000448019]	Chr5:22149..34041196 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1	copy number loss	See cases [RCV000448521]	Chr5:113576..21786246 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1	copy number loss	See cases [RCV000448543]	Chr5:22149..6500967 [GRCh37] Chr5:5p15.33-15.31	pathogenic
GRCh37/hg19 5p15.33(chr5:22149-4163847)x1	copy number loss	See cases [RCV000447780]	Chr5:22149..4163847 [GRCh37] Chr5:5p15.33	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1	copy number loss	See cases [RCV000448408]	Chr5:113576..23147737 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1	copy number loss	See cases [RCV000447737]	Chr5:79146..22152284 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3	copy number gain	See cases [RCV000447969]	Chr5:149372..7883578 [GRCh37] Chr5:5p15.33-15.31	pathogenic
NM_001044.5(SLC6A3):c.253C>T (p.Arg85Trp)	single nucleotide variant	not provided [RCV000480943]	Chr5:1442945 [GRCh38] Chr5:1443060 [GRCh37] Chr5:5p15.33	likely pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1	copy number loss	See cases [RCV000512066]	Chr5:113576..25091472 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1	copy number loss	See cases [RCV000510193]	Chr5:113576..26234903 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1	copy number loss	See cases [RCV000511494]	Chr5:113576..10163809 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1	copy number loss	See cases [RCV000511513]	Chr5:113576..15291661 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1	copy number loss	See cases [RCV000511088]	Chr5:113576..5380741 [GRCh37] Chr5:5p15.33-15.32	pathogenic
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000554641]\|Tobacco addiction, susceptibility to [RCV002497165]	Chr5:1443138 [GRCh38] Chr5:1443253 [GRCh37] Chr5:5p15.33	benign\|likely benign
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1	copy number loss	See cases [RCV000510912]	Chr5:113576..10729838 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1	copy number loss	See cases [RCV000510921]	Chr5:113576..26948599 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1	copy number loss	See cases [RCV000510786]	Chr5:113576..23047959 [GRCh37] Chr5:5p15.33-14.3	pathogenic
NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000533768]\|SLC6A3-related disorder [RCV004757246]	Chr5:1414710 [GRCh38] Chr5:1414825 [GRCh37] Chr5:5p15.33	benign\|likely benign
NM_001044.5(SLC6A3):c.1498+14A>G	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000610704]\|Parkinsonism-dystonia, infantile [RCV001513604]\|not provided [RCV001692224]	Chr5:1409012 [GRCh38] Chr5:1409127 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1413C>G (p.Val471=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000535671]\|not provided [RCV003431096]	Chr5:1409111 [GRCh38] Chr5:1409226 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002235255]	Chr5:1414760 [GRCh38] Chr5:1414875 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001419230]\|SLC6A3-related disorder [RCV003928101]	Chr5:1409823 [GRCh38] Chr5:1409938 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.201C>T (p.Ile67=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234086]	Chr5:1442997 [GRCh38] Chr5:1443112 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000647227]	Chr5:1403045 [GRCh38] Chr5:1403160 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.642C>T (p.Ala214=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000647228]	Chr5:1432475 [GRCh38] Chr5:1432590 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1828C>T (p.Arg610Cys)	single nucleotide variant	Inborn genetic diseases [RCV003274965]	Chr5:1400926 [GRCh38] Chr5:1401041 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.563A>G (p.Asn188Ser)	single nucleotide variant	Inborn genetic diseases [RCV003262249]	Chr5:1432554 [GRCh38] Chr5:1432669 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1334G>A (p.Arg445His)	single nucleotide variant	Inborn genetic diseases [RCV003261018]	Chr5:1409785 [GRCh38] Chr5:1409900 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000537027]\|Parkinsonism-dystonia, infantile [RCV000857992]\|not provided [RCV001572080]	Chr5:1443036 [GRCh38] Chr5:1443151 [GRCh37] Chr5:5p15.33	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001044.5(SLC6A3):c.1800C>A (p.Asp600Glu)	single nucleotide variant	Inborn genetic diseases [RCV003256725]	Chr5:1400954 [GRCh38] Chr5:1401069 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000625457]\|Parkinsonism-dystonia, infantile [RCV001521511]\|not provided [RCV001613413]	Chr5:1443084 [GRCh38] Chr5:1443199 [GRCh37] Chr5:5p15.33	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001044.5(SLC6A3):c.419-12C>A	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000625456]\|Parkinsonism-dystonia, infantile [RCV001513605]\|not provided [RCV001530756]	Chr5:1432710 [GRCh38] Chr5:1432825 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000647217]	Chr5:1402961 [GRCh38] Chr5:1403076 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=)	single nucleotide variant	Inborn genetic diseases [RCV002530487]\|Parkinsonism-dystonia, infantile [RCV000647218]\|Tobacco addiction, susceptibility to [RCV002507109]\|not provided [RCV003437366]	Chr5:1414692 [GRCh38] Chr5:1414807 [GRCh37] Chr5:5p15.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234084]	Chr5:1432512 [GRCh38] Chr5:1432627 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000647220]\|Tobacco addiction, susceptibility to [RCV000765818]	Chr5:1443128 [GRCh38] Chr5:1443243 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1768-7_1768-6del	microsatellite	Parkinsonism-dystonia, infantile [RCV002234686]	Chr5:1400992..1400993 [GRCh38] Chr5:1401107..1401108 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234687]	Chr5:1411264 [GRCh38] Chr5:1411379 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234085]\|not provided [RCV001200465]	Chr5:1414809 [GRCh38] Chr5:1414924 [GRCh37] Chr5:5p15.33	likely benign
GRCh37/hg19 5p15.33(chr5:113576-4175855)x1	copy number loss	See cases [RCV000512452]	Chr5:113576..4175855 [GRCh37] Chr5:5p15.33	pathogenic
NM_001044.5(SLC6A3):c.170C>T (p.Ala57Val)	single nucleotide variant	not provided [RCV000594747]	Chr5:1443028 [GRCh38] Chr5:1443143 [GRCh37] Chr5:5p15.33	uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3	copy number gain	See cases [RCV000512567]	Chr5:113576..20240392 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1816055)x1	copy number loss	not provided [RCV000682510]	Chr5:113576..1816055 [GRCh37] Chr5:5p15.33	pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1	copy number loss	not provided [RCV000682511]	Chr5:113576..5884399 [GRCh37] Chr5:5p15.33-15.32	pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1	copy number loss	not provided [RCV000682512]	Chr5:113576..6125331 [GRCh37] Chr5:5p15.33-15.32	pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1	copy number loss	not provided [RCV000682513]	Chr5:113576..7946262 [GRCh37] Chr5:5p15.33-15.31	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1	copy number loss	not provided [RCV000682514]	Chr5:113576..15822225 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1	copy number loss	not provided [RCV000682515]	Chr5:113576..19167699 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	copy number gain	not provided [RCV000682516]	Chr5:113576..35739404 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1708530)x1	copy number loss	not provided [RCV000682509]	Chr5:113576..1708530 [GRCh37] Chr5:5p15.33	pathogenic
NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002233571]	Chr5:1442983 [GRCh38] Chr5:1443098 [GRCh37] Chr5:5p15.33	uncertain significance
NC_000005.9:g.(?_1394830)_(1394893_?)dup	duplication	Parkinsonism-dystonia, infantile, 1 [RCV000707982]	Chr5:1394715..1394778 [GRCh38] Chr5:1394830..1394893 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn)	single nucleotide variant	Inborn genetic diseases [RCV004026590]\|Parkinsonism-dystonia, infantile [RCV002233378]\|not provided [RCV004723106]	Chr5:1394741 [GRCh38] Chr5:1394856 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002233605]	Chr5:1400916 [GRCh38] Chr5:1401031 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu)	single nucleotide variant	Inborn genetic diseases [RCV002534451]\|Parkinsonism-dystonia, infantile [RCV000706014]\|not provided [RCV004711293]	Chr5:1443121 [GRCh38] Chr5:1443236 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly)	single nucleotide variant	Inborn genetic diseases [RCV002570801]\|Parkinsonism-dystonia, infantile [RCV001866057]\|not provided [RCV001574897]	Chr5:1400949 [GRCh38] Chr5:1401064 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1839+185G>A	single nucleotide variant	not provided [RCV001575203]	Chr5:1400730 [GRCh38] Chr5:1400845 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.-45-101G>A	single nucleotide variant	not provided [RCV001547056]	Chr5:1443343 [GRCh38] Chr5:1443458 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.418+38C>T	single nucleotide variant	not provided [RCV001643798]	Chr5:1441321 [GRCh38] Chr5:1441436 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1	copy number loss	not provided [RCV000744320]	Chr5:25328..18662625 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3	copy number gain	not provided [RCV000744321]	Chr5:25328..18698028 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1	copy number loss	not provided [RCV000744322]	Chr5:25328..31343671 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33(chr5:1420801-1423905)x1	copy number loss	not provided [RCV000744357]	Chr5:1420801..1423905 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1420801-1446719)x1	copy number loss	not provided [RCV000744358]	Chr5:1420801..1446719 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1422602-1423905)x1	copy number loss	not provided [RCV000744359]	Chr5:1422602..1423905 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1422602-1445601)x1	copy number loss	not provided [RCV000744360]	Chr5:1422602..1445601 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1422602-1446719)x1	copy number loss	not provided [RCV000744361]	Chr5:1422602..1446719 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1422654-1423905)x1	copy number loss	not provided [RCV000744362]	Chr5:1422654..1423905 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1422654-1445601)x1	copy number loss	not provided [RCV000744363]	Chr5:1422654..1445601 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1422654-1446719)x1	copy number loss	not provided [RCV000744364]	Chr5:1422654..1446719 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1422654-1468287)x1	copy number loss	not provided [RCV000744365]	Chr5:1422654..1468287 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1422811-1446548)x1	copy number loss	not provided [RCV000744366]	Chr5:1422811..1446548 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:1445379-1446719)x1	copy number loss	not provided [RCV000744367]	Chr5:1445379..1446719 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.287-106G>A	single nucleotide variant	not provided [RCV001583237]	Chr5:1441596 [GRCh38] Chr5:1441711 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.792+7C>T	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000861662]	Chr5:1421869 [GRCh38] Chr5:1421984 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.286+270G>A	single nucleotide variant	not provided [RCV001724557]	Chr5:1442642 [GRCh38] Chr5:1442757 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.792+259G>A	single nucleotide variant	not provided [RCV001691808]	Chr5:1421617 [GRCh38] Chr5:1421732 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1139_1150del (p.Gly380_Lys384delinsGlu)	deletion	Dysphagia [RCV000853400]	Chr5:1414697..1414708 [GRCh38] Chr5:1414812..1414823 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1156+245C>A	single nucleotide variant	not provided [RCV001725343]	Chr5:1414446 [GRCh38] Chr5:1414561 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1270-56A>G	single nucleotide variant	not provided [RCV001612826]	Chr5:1409905 [GRCh38] Chr5:1410020 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.*35T>C	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV001810285]\|not provided [RCV001709275]	Chr5:1394700 [GRCh38] Chr5:1394815 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1840-68_1840-49del	deletion	not provided [RCV001566711]	Chr5:1394807..1394826 [GRCh38] Chr5:1394922..1394941 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+299T>C	single nucleotide variant	not provided [RCV001574711]	Chr5:1414392 [GRCh38] Chr5:1414507 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000861018]\|not provided [RCV001570789]	Chr5:1402997 [GRCh38] Chr5:1403112 [GRCh37] Chr5:5p15.33	benign\|likely benign
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1	copy number loss	not provided [RCV000762763]	Chr5:52186..4163906 [GRCh37] Chr5:5p15.33	likely pathogenic
NM_001044.5(SLC6A3):c.1840-204G>A	single nucleotide variant	not provided [RCV001611072]	Chr5:1394962 [GRCh38] Chr5:1395077 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.*328G>A	single nucleotide variant	not provided [RCV001707449]	Chr5:1394407 [GRCh38] Chr5:1394522 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.653+27C>T	single nucleotide variant	not provided [RCV001663086]	Chr5:1432437 [GRCh38] Chr5:1432552 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.419-68G>A	single nucleotide variant	not provided [RCV001667357]	Chr5:1432766 [GRCh38] Chr5:1432881 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1499-260C>T	single nucleotide variant	not provided [RCV001641870]	Chr5:1406548 [GRCh38] Chr5:1406663 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1498+162T>G	single nucleotide variant	not provided [RCV001708308]	Chr5:1408864 [GRCh38] Chr5:1408979 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.653+39C>A	single nucleotide variant	not provided [RCV001548102]	Chr5:1432425 [GRCh38] Chr5:1432540 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.969C>T (p.Gly323=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000884116]	Chr5:1416160 [GRCh38] Chr5:1416275 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.495C>T (p.His165=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000865487]	Chr5:1432622 [GRCh38] Chr5:1432737 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.606G>A (p.Ser202=)	single nucleotide variant	not provided [RCV000867012]	Chr5:1432511 [GRCh38] Chr5:1432626 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1332C>T (p.His444=)	single nucleotide variant	not provided [RCV000936831]	Chr5:1409787 [GRCh38] Chr5:1409902 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1335T>G (p.Arg445=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000871510]	Chr5:1409784 [GRCh38] Chr5:1409899 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.450G>A (p.Leu150=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001433537]	Chr5:1432667 [GRCh38] Chr5:1432782 [GRCh37] Chr5:5p15.33	likely benign
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	copy number loss	not provided [RCV001005642]	Chr5:113576..23364376 [GRCh37] Chr5:5p15.33-14.2	pathogenic
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000995647]\|Parkinsonism-dystonia, infantile [RCV001858818]	Chr5:1443020 [GRCh38] Chr5:1443135 [GRCh37] Chr5:5p15.33	likely pathogenic\|uncertain significance
NM_001044.5(SLC6A3):c.418+9C>T	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001496569]	Chr5:1441350 [GRCh38] Chr5:1441465 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1200G>A (p.Thr400=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001442580]	Chr5:1411312 [GRCh38] Chr5:1411427 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000861851]\|SLC6A3-related disorder [RCV004757293]\|Tobacco addiction, susceptibility to [RCV002507463]\|not provided [RCV004716619]	Chr5:1409054 [GRCh38] Chr5:1409169 [GRCh37] Chr5:5p15.33	benign\|likely benign
NM_001044.5(SLC6A3):c.216C>T (p.Ser72=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002548232]	Chr5:1442982 [GRCh38] Chr5:1443097 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000863368]\|Tobacco addiction, susceptibility to [RCV002478956]\|not provided [RCV003438507]	Chr5:1414704 [GRCh38] Chr5:1414819 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1089C>T (p.Val363=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000861937]	Chr5:1414758 [GRCh38] Chr5:1414873 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.456C>T (p.Val152=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000862146]\|SLC6A3-related disorder [RCV003918334]	Chr5:1432661 [GRCh38] Chr5:1432776 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000862212]	Chr5:1409763 [GRCh38] Chr5:1409878 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000873365]	Chr5:1420674 [GRCh38] Chr5:1420789 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.615C>T (p.Asn205=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001489986]\|not provided [RCV004597911]	Chr5:1432502 [GRCh38] Chr5:1432617 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1747C>T (p.Leu583=)	single nucleotide variant	not provided [RCV000921833]	Chr5:1402942 [GRCh38] Chr5:1403057 [GRCh37] Chr5:5p15.33	likely benign
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	copy number loss	5p partial monosomy syndrome [RCV000767710]	Chr5:140474..9792158 [GRCh37] Chr5:5p15.33-15.31	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	copy number loss	See cases [RCV002285039]	Chr5:113576..30712376 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33(chr5:113576-2485820)x1	copy number loss	not provided [RCV001005640]	Chr5:113576..2485820 [GRCh37] Chr5:5p15.33	likely pathogenic\|uncertain significance
NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002235406]	Chr5:1411296 [GRCh38] Chr5:1411411 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.285C>T (p.Gly95=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234307]	Chr5:1442913 [GRCh38] Chr5:1443028 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002233852]	Chr5:1441401 [GRCh38] Chr5:1441516 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234311]	Chr5:1403048 [GRCh38] Chr5:1403163 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV000784921]\|Parkinsonism-dystonia, infantile [RCV001221916]	Chr5:1414780 [GRCh38] Chr5:1414895 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1410C>T (p.Tyr470=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000871050]	Chr5:1409114 [GRCh38] Chr5:1409229 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234333]	Chr5:1443164 [GRCh38] Chr5:1443279 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000795321]\|not provided [RCV002509539]	Chr5:1414729 [GRCh38] Chr5:1414844 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234766]	Chr5:1432669 [GRCh38] Chr5:1432784 [GRCh37] Chr5:5p15.33	uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	copy number loss	not provided [RCV001005644]	Chr5:113576..11767720 [GRCh37] Chr5:5p15.33-15.2	pathogenic
NM_001044.5(SLC6A3):c.661G>A (p.Val221Met)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002234985]	Chr5:1422007 [GRCh38] Chr5:1422122 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.78G>A (p.Pro26=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000862550]	Chr5:1443120 [GRCh38] Chr5:1443235 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.710G>A (p.Arg237Gln)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002538918]	Chr5:1421958 [GRCh38] Chr5:1422073 [GRCh37] Chr5:5p15.33	likely benign
GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1	copy number loss	not provided [RCV001005645]	Chr5:113576..5657333 [GRCh37] Chr5:5p15.33-15.32	pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1	copy number loss	not provided [RCV001005646]	Chr5:113576..5194484 [GRCh37] Chr5:5p15.33-15.32	pathogenic
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1	copy number loss	not provided [RCV001005641]	Chr5:113576..4325585 [GRCh37] Chr5:5p15.33	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	copy number loss	5p partial monosomy syndrome [RCV001195139]	Chr5:71904..22078969 [GRCh37] Chr5:5p15.33-14.3	pathogenic
NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001205789]	Chr5:1402953 [GRCh38] Chr5:1403068 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001237376]	Chr5:1403041 [GRCh38] Chr5:1403156 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001209945]	Chr5:1403026 [GRCh38] Chr5:1403141 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1398+5G>A	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV001198035]	Chr5:1409716 [GRCh38] Chr5:1409831 [GRCh37] Chr5:5p15.33	likely pathogenic
NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001228405]	Chr5:1416132 [GRCh38] Chr5:1416247 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.656G>A (p.Arg219His)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV001249652]	Chr5:1422012 [GRCh38] Chr5:1422127 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro)	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV001249653]	Chr5:1416138 [GRCh38] Chr5:1416253 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.654-75C>T	single nucleotide variant	not provided [RCV001549698]	Chr5:1422089 [GRCh38] Chr5:1422204 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+238C>A	single nucleotide variant	not provided [RCV001550525]	Chr5:1414453 [GRCh38] Chr5:1414568 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1839+98_1839+99insGGCTGGTGTAGACAG	insertion	not provided [RCV001716966]	Chr5:1400816..1400817 [GRCh38] Chr5:1400931..1400932 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1839+26TC[2]	microsatellite	not provided [RCV001576140]	Chr5:1400884..1400885 [GRCh38] Chr5:1400999..1401000 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1032-242G>A	single nucleotide variant	not provided [RCV001555062]	Chr5:1415057 [GRCh38] Chr5:1415172 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+270G>T	single nucleotide variant	not provided [RCV001560615]	Chr5:1414421 [GRCh38] Chr5:1414536 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1398+117G>A	single nucleotide variant	not provided [RCV001648255]	Chr5:1409604 [GRCh38] Chr5:1409719 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.419-109T>G	single nucleotide variant	not provided [RCV001550286]	Chr5:1432807 [GRCh38] Chr5:1432922 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+305T>C	single nucleotide variant	not provided [RCV001598754]	Chr5:1414386 [GRCh38] Chr5:1414501 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1156+207A>C	single nucleotide variant	not provided [RCV001638359]	Chr5:1414484 [GRCh38] Chr5:1414599 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.927+110G>C	single nucleotide variant	not provided [RCV001556654]	Chr5:1420459 [GRCh38] Chr5:1420574 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+269C>T	single nucleotide variant	not provided [RCV001656009]	Chr5:1414422 [GRCh38] Chr5:1414537 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.*36G>A	single nucleotide variant	not provided [RCV001649184]	Chr5:1394699 [GRCh38] Chr5:1394814 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.419-63C>T	single nucleotide variant	not provided [RCV001689153]	Chr5:1432761 [GRCh38] Chr5:1432876 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1768-76G>T	single nucleotide variant	not provided [RCV001586515]	Chr5:1401062 [GRCh38] Chr5:1401177 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.419-156dup	duplication	not provided [RCV001669217]	Chr5:1432851..1432852 [GRCh38] Chr5:1432966..1432967 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1156+33C>T	single nucleotide variant	not provided [RCV001694419]	Chr5:1414658 [GRCh38] Chr5:1414773 [GRCh37] Chr5:5p15.33	benign
GRCh37/hg19 5p15.33(chr5:26141-2537457)x3	copy number gain	Global developmental delay [RCV002284255]	Chr5:26141..2537457 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.-45-247G>A	single nucleotide variant	not provided [RCV001670577]	Chr5:1443489 [GRCh38] Chr5:1443604 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1767+280C>G	single nucleotide variant	not provided [RCV001566060]	Chr5:1402642 [GRCh38] Chr5:1402757 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1399-242G>A	single nucleotide variant	not provided [RCV001644053]	Chr5:1409367 [GRCh38] Chr5:1409482 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.792+223C>A	single nucleotide variant	not provided [RCV001552834]	Chr5:1421653 [GRCh38] Chr5:1421768 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1839+9G>A	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000862211]	Chr5:1400906 [GRCh38] Chr5:1401021 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.792+10G>A	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001434858]	Chr5:1421866 [GRCh38] Chr5:1421981 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001488878]	Chr5:1400963 [GRCh38] Chr5:1401078 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.498T>C (p.Tyr166=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002536747]	Chr5:1432619 [GRCh38] Chr5:1432734 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1498+10G>A	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000863642]	Chr5:1409016 [GRCh38] Chr5:1409131 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1840-7_1840-3dup	duplication	not provided [RCV000863064]	Chr5:1394760..1394761 [GRCh38] Chr5:1394875..1394876 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1498+9G>A	single nucleotide variant	not provided [RCV000876252]	Chr5:1409017 [GRCh38] Chr5:1409132 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1662C>T (p.Pro554=)	single nucleotide variant	SLC6A3-related disorder [RCV003965687]\|not provided [RCV000864748]	Chr5:1403027 [GRCh38] Chr5:1403142 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV000861772]	Chr5:1414761 [GRCh38] Chr5:1414876 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001056011]\|Tobacco addiction, susceptibility to [RCV002482008]	Chr5:1403086 [GRCh38] Chr5:1403201 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001227736]\|not provided [RCV001773517]	Chr5:1402923 [GRCh38] Chr5:1403038 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.366G>C (p.Gln122His)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001208954]	Chr5:1441411 [GRCh38] Chr5:1441526 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer)	deletion	Parkinsonism-dystonia, infantile [RCV001208955]	Chr5:1420604 [GRCh38] Chr5:1420719 [GRCh37] Chr5:5p15.33	pathogenic
NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001241600]	Chr5:1406243 [GRCh38] Chr5:1406358 [GRCh37] Chr5:5p15.33	uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	copy number loss	not provided [RCV001005643]	Chr5:113576..14738180 [GRCh37] Chr5:5p15.33-15.2	pathogenic
NM_001044.5(SLC6A3):c.1050C>T (p.Thr350=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV002066124]	Chr5:1414797 [GRCh38] Chr5:1414912 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001513093]\|not provided [RCV000998352]	Chr5:1409729 [GRCh38] Chr5:1409844 [GRCh37] Chr5:5p15.33	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001044.5(SLC6A3):c.*190C>T	single nucleotide variant	not provided [RCV001561704]	Chr5:1394545 [GRCh38] Chr5:1394660 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1269+115C>T	single nucleotide variant	not provided [RCV001659660]	Chr5:1411128 [GRCh38] Chr5:1411243 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1156+276C>A	single nucleotide variant	not provided [RCV001557456]	Chr5:1414415 [GRCh38] Chr5:1414530 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.419-260A>G	single nucleotide variant	not provided [RCV001563157]	Chr5:1432958 [GRCh38] Chr5:1433073 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+229C>T	single nucleotide variant	not provided [RCV001563453]	Chr5:1414462 [GRCh38] Chr5:1414577 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.928-330C>T	single nucleotide variant	not provided [RCV001649397]	Chr5:1416531 [GRCh38] Chr5:1416646 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1032-111C>T	single nucleotide variant	not provided [RCV001558853]	Chr5:1414926 [GRCh38] Chr5:1415041 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+55C>G	single nucleotide variant	not provided [RCV001662884]	Chr5:1414636 [GRCh38] Chr5:1414751 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1157-229G>A	single nucleotide variant	not provided [RCV001636023]	Chr5:1411584 [GRCh38] Chr5:1411699 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1499-239C>T	single nucleotide variant	not provided [RCV001568774]	Chr5:1406527 [GRCh38] Chr5:1406642 [GRCh37] Chr5:5p15.33	likely benign
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	copy number loss	not provided [RCV002472712]	Chr5:1..32091038 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	copy number loss	not provided [RCV002473919]	Chr5:113577..17654787 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33(chr5:944046-1541755)x3	copy number gain	not provided [RCV001005647]	Chr5:944046..1541755 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.-45-246A>G	single nucleotide variant	not provided [RCV001671680]	Chr5:1443488 [GRCh38] Chr5:1443603 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.654-60G>A	single nucleotide variant	not provided [RCV001593371]	Chr5:1422074 [GRCh38] Chr5:1422189 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.286+53G>T	single nucleotide variant	not provided [RCV001655087]	Chr5:1442859 [GRCh38] Chr5:1442974 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1600-40C>T	single nucleotide variant	not provided [RCV001716974]	Chr5:1403129 [GRCh38] Chr5:1403244 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.793-76C>T	single nucleotide variant	not provided [RCV001639262]	Chr5:1420779 [GRCh38] Chr5:1420894 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.286+40C>T	single nucleotide variant	not provided [RCV001663203]	Chr5:1442872 [GRCh38] Chr5:1442987 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1270-109T>C	single nucleotide variant	not provided [RCV001616441]	Chr5:1409958 [GRCh38] Chr5:1410073 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1499-95G>A	single nucleotide variant	not provided [RCV001677894]	Chr5:1406383 [GRCh38] Chr5:1406498 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1599+339_1599+345del	deletion	not provided [RCV001617481]	Chr5:1405843..1405849 [GRCh38] Chr5:1405958..1405964 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1032-138C>T	single nucleotide variant	not provided [RCV001581608]	Chr5:1414953 [GRCh38] Chr5:1415068 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.-45-141C>T	single nucleotide variant	not provided [RCV001677925]	Chr5:1443383 [GRCh38] Chr5:1443498 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1839+280C>T	single nucleotide variant	not provided [RCV001676953]	Chr5:1400635 [GRCh38] Chr5:1400750 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.286+185G>A	single nucleotide variant	not provided [RCV001715261]	Chr5:1442727 [GRCh38] Chr5:1442842 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1639dup (p.His547fs)	duplication	not provided [RCV001008413]	Chr5:1403049..1403050 [GRCh38] Chr5:1403164..1403165 [GRCh37] Chr5:5p15.33	likely pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1	copy number loss	not provided [RCV001005649]	Chr5:1322680..10762544 [GRCh37] Chr5:5p15.33-15.2	pathogenic
NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile)	single nucleotide variant	Inborn genetic diseases [RCV002551369]\|Parkinsonism-dystonia, infantile [RCV001036884]\|not provided [RCV001788405]	Chr5:1443165 [GRCh38] Chr5:1443280 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1499-185C>T	single nucleotide variant	not provided [RCV001567666]	Chr5:1406473 [GRCh38] Chr5:1406588 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.287-119G>A	single nucleotide variant	not provided [RCV001588582]	Chr5:1441609 [GRCh38] Chr5:1441724 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+194G>T	single nucleotide variant	not provided [RCV001693201]	Chr5:1414497 [GRCh38] Chr5:1414612 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.653+5G>A	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001048689]	Chr5:1432459 [GRCh38] Chr5:1432574 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1599+267G>T	single nucleotide variant	not provided [RCV001678675]	Chr5:1405921 [GRCh38] Chr5:1406036 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.911G>A (p.Arg304Gln)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001051317]	Chr5:1420585 [GRCh38] Chr5:1420700 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1840-258C>T	single nucleotide variant	not provided [RCV001714074]	Chr5:1395016 [GRCh38] Chr5:1395131 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.*250G>C	single nucleotide variant	not provided [RCV001666911]	Chr5:1394485 [GRCh38] Chr5:1394600 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1600-282A>G	single nucleotide variant	not provided [RCV001662867]	Chr5:1403371 [GRCh38] Chr5:1403486 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.-45-145C>T	single nucleotide variant	not provided [RCV001583175]	Chr5:1443387 [GRCh38] Chr5:1443502 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1156+231C>T	single nucleotide variant	not provided [RCV001648060]	Chr5:1414460 [GRCh38] Chr5:1414575 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001070261]	Chr5:1411243 [GRCh38] Chr5:1411358 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.927+96G>C	single nucleotide variant	not provided [RCV001538239]	Chr5:1420473 [GRCh38] Chr5:1420588 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1768-279G>A	single nucleotide variant	not provided [RCV001645163]	Chr5:1401265 [GRCh38] Chr5:1401380 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1031+71G>T	single nucleotide variant	Classic dopamine transporter deficiency syndrome [RCV001544213]\|not provided [RCV001658275]	Chr5:1416027 [GRCh38] Chr5:1416142 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.418+168G>A	single nucleotide variant	not provided [RCV001692663]	Chr5:1441191 [GRCh38] Chr5:1441306 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.286+295C>G	single nucleotide variant	not provided [RCV001536836]	Chr5:1442617 [GRCh38] Chr5:1442732 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.792+258C>T	single nucleotide variant	not provided [RCV001679378]	Chr5:1421618 [GRCh38] Chr5:1421733 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1399-262G>A	single nucleotide variant	not provided [RCV001546997]	Chr5:1409387 [GRCh38] Chr5:1409502 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.*235G>A	single nucleotide variant	not provided [RCV001583978]	Chr5:1394500 [GRCh38] Chr5:1394615 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.927+208G>A	single nucleotide variant	not provided [RCV001680546]	Chr5:1420361 [GRCh38] Chr5:1420476 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1269+102T>G	single nucleotide variant	not provided [RCV001537453]	Chr5:1411141 [GRCh38] Chr5:1411256 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1267G>A (p.Ala423Thr)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001058580]	Chr5:1411245 [GRCh38] Chr5:1411360 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.66T>G (p.Asn22Lys)	single nucleotide variant	Inborn genetic diseases [RCV004683848]	Chr5:1443132 [GRCh38] Chr5:1443247 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.32T>C (p.Met11Thr)	single nucleotide variant	Inborn genetic diseases [RCV004683849]	Chr5:1443166 [GRCh38] Chr5:1443281 [GRCh37] Chr5:5p15.33	uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-4305172)x1	copy number loss	not provided [RCV001258846]	Chr5:113576..4305172 [GRCh37] Chr5:5p15.33	pathogenic
NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001307368]	Chr5:1400937 [GRCh38] Chr5:1401052 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001340044]	Chr5:1441359 [GRCh38] Chr5:1441474 [GRCh37] Chr5:5p15.33	uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	copy number loss	See cases [RCV001310287]	Chr5:22149..29048823 [GRCh37] Chr5:5p15.33-13.3	pathogenic
NC_000005.9:g.(?_1394830)_(1394893_?)dup	duplication	Classic dopamine transporter deficiency syndrome [RCV000707982]\|Parkinsonism-dystonia, infantile [RCV001319101]	Chr5:1394830..1394893 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.1107G>A (p.Gly369=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001396981]	Chr5:1414740 [GRCh38] Chr5:1414855 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.287-16C>A	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001294258]	Chr5:1441506 [GRCh38] Chr5:1441621 [GRCh37] Chr5:5p15.33	likely benign\|uncertain significance
NM_001044.5(SLC6A3):c.*314TGCTCCC[1]	microsatellite	not provided [RCV001538554]	Chr5:1394408..1394414 [GRCh38] Chr5:1394523..1394529 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001297821]\|not provided [RCV002508304]	Chr5:1400925 [GRCh38] Chr5:1401040 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001322049]\|Tobacco addiction, susceptibility to [RCV002493682]\|not provided [RCV004727136]	Chr5:1420598 [GRCh38] Chr5:1420713 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001346076]	Chr5:1443047 [GRCh38] Chr5:1443162 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.625G>A (p.Gly209Arg)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001365869]	Chr5:1432492 [GRCh38] Chr5:1432607 [GRCh37] Chr5:5p15.33	uncertain significance
NM_001044.5(SLC6A3):c.653+13C>T	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001518780]\|not provided [RCV001546626]	Chr5:1432451 [GRCh38] Chr5:1432566 [GRCh37] Chr5:5p15.33	benign\|likely benign
NM_001044.5(SLC6A3):c.1839+8C>T	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001478513]	Chr5:1400907 [GRCh38] Chr5:1401022 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1768-7C>T	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001404871]	Chr5:1400993 [GRCh38] Chr5:1401108 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1068G>A (p.Thr356=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001488314]	Chr5:1414779 [GRCh38] Chr5:1414894 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1359C>T (p.Val453=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001475454]	Chr5:1409760 [GRCh38] Chr5:1409875 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.286+20C>G	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001521081]\|not provided [RCV001685405]	Chr5:1442892 [GRCh38] Chr5:1443007 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.1479C>T (p.Ile493=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001437146]\|not provided [RCV003433167]	Chr5:1409045 [GRCh38] Chr5:1409160 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.471C>T (p.Asn157=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV001504439]\|not provided [RCV004711698]	Chr5:1432646 [GRCh38] Chr5:1432761 [GRCh37] Chr5:5p15.33	likely benign
NM_001044.5(SLC6A3):c.1270-21G>A	single nucleotide variant	not provided [RCV001537227]	Chr5:1409870 [GRCh38] Chr5:1409985 [GRCh37] Chr5:5p15.33	benign
NM_001044.5(SLC6A3):c.57G>A (p.Lys19=)	single nucleotide variant	Parkinsonism-dystonia, infantile [RCV0014

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Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

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Imported Annotations - KEGG (archival)

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