Slc6a3 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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522 records found for search term Slc6a3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8565820	CV31801	microsatellite	SLC6A3*9	Nicotine dependence, protection against [RCV000018247]	pathogenic\|protective	5	1393899	1393900	Human		name
150460206	CV1236213	single nucleotide variant	NM_001044.5(SLC6A3):c.*36G>A	not provided [RCV001649184]	benign	5	1394699	1394699	Human		name
150457673	CV1278659	single nucleotide variant	NM_001044.5(SLC6A3):c.*35T>C	Classic dopamine transporter deficiency syndrome [RCV001810285]\|not provided [RCV001709275]	benign	5	1394700	1394700	Human	1	name
150428020	CV1186842	single nucleotide variant	NM_001044.5(SLC6A3):c.*190C>T	not provided [RCV001561704]	likely benign	5	1394545	1394545	Human		name
150443469	CV1205135	single nucleotide variant	NM_001044.5(SLC6A3):c.*235G>A	not provided [RCV001583978]	likely benign	5	1394500	1394500	Human		name
150444857	CV1249478	single nucleotide variant	NM_001044.5(SLC6A3):c.*250G>C	not provided [RCV001666911]	benign	5	1394485	1394485	Human		name
150446379	CV1278306	single nucleotide variant	NM_001044.5(SLC6A3):c.*328G>A	not provided [RCV001707449]	benign	5	1394407	1394407	Human		name
151869280	CV1438807	single nucleotide variant	NM_001044.5(SLC6A3):c.419-6C>T	Parkinsonism-dystonia, infantile [RCV002035450]	likely benign	5	1432704	1432704	Human	1	name
156151010	CV1878977	single nucleotide variant	NM_001044.5(SLC6A3):c.654-8C>T	Parkinsonism-dystonia, infantile [RCV003056532]	likely benign	5	1422022	1422022	Human	1	name
156412642	CV1886811	single nucleotide variant	NM_001044.5(SLC6A3):c.793-7C>T	Parkinsonism-dystonia, infantile [RCV003072978]	likely benign	5	1420710	1420710	Human	1	name
156321185	CV1897852	single nucleotide variant	NM_001044.5(SLC6A3):c.654-3C>T	Parkinsonism-dystonia, infantile [RCV002579252]	uncertain significance	5	1422017	1422017	Human	1	name
156298437	CV1932666	single nucleotide variant	NM_001044.5(SLC6A3):c.286+6T>A	Parkinsonism-dystonia, infantile [RCV002647517]	uncertain significance	5	1442906	1442906	Human	1	name
156185857	CV1964650	single nucleotide variant	NM_001044.5(SLC6A3):c.286+8C>T	Parkinsonism-dystonia, infantile [RCV002574257]	likely benign	5	1442904	1442904	Human	1	name
155949043	CV2036230	single nucleotide variant	NM_001044.5(SLC6A3):c.419-5G>A	Parkinsonism-dystonia, infantile [RCV002775669]	likely benign	5	1432703	1432703	Human	1	name
156209438	CV2114314	single nucleotide variant	NM_001044.5(SLC6A3):c.419-5G>T	Parkinsonism-dystonia, infantile [RCV002932000]	likely benign	5	1432703	1432703	Human	1	name
329355767	CV2477579	single nucleotide variant	NM_001044.5(SLC6A3):c.792+4A>T	Classic dopamine transporter deficiency syndrome [RCV003223527]	uncertain significance	5	1421872	1421872	Human	1	name
405078881	CV2875906	single nucleotide variant	NM_001044.5(SLC6A3):c.792+9C>T	Parkinsonism-dystonia, infantile [RCV003595197]	likely benign	5	1421867	1421867	Human	1	name
405187397	CV3044621	single nucleotide variant	NM_001044.5(SLC6A3):c.287-5C>T	Parkinsonism-dystonia, infantile [RCV003760174]	likely benign	5	1441495	1441495	Human	1	name
405201897	CV3128974	single nucleotide variant	NM_001044.5(SLC6A3):c.287-5C>G	Parkinsonism-dystonia, infantile [RCV003822017]	likely benign	5	1441495	1441495	Human	1	name
402519041	CV3135932	single nucleotide variant	NM_001044.5(SLC6A3):c.287-6C>T	Parkinsonism-dystonia, infantile [RCV003824558]	likely benign	5	1441496	1441496	Human	1	name
597961245	CV3812094	single nucleotide variant	NM_001044.5(SLC6A3):c.418+7T>A	Parkinsonism-dystonia, infantile [RCV005163747]	likely benign	5	1441352	1441352	Human	1	name
15120286	CV685181	single nucleotide variant	NM_001044.5(SLC6A3):c.792+7C>T	Parkinsonism-dystonia, infantile [RCV000861662]	likely benign	5	1421869	1421869	Human	1	name
15118804	CV685182	single nucleotide variant	NM_001044.5(SLC6A3):c.418+9C>T	Parkinsonism-dystonia, infantile [RCV001496569]	likely benign	5	1441350	1441350	Human	1	name
26900116	CV851919	single nucleotide variant	NM_001044.5(SLC6A3):c.653+5G>A	Parkinsonism-dystonia, infantile [RCV001048689]	uncertain significance	5	1432459	1432459	Human	1	name
8643632	CV102921	single nucleotide variant	NM_001044.5(SLC6A3):c.1031+1G>A	Classic dopamine transporter deficiency syndrome [RCV000083262]\|Parkinsonism-dystonia, infantile [RCV002228329]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	5	1416097	1416097	Human	2	name
127270033	CV1072435	single nucleotide variant	NM_001044.5(SLC6A3):c.1768-7C>T	Parkinsonism-dystonia, infantile [RCV001404871]	likely benign	5	1400993	1400993	Human	1	name
127300887	CV1136561	single nucleotide variant	NM_001044.5(SLC6A3):c.1839+8C>T	Parkinsonism-dystonia, infantile [RCV001478513]	likely benign	5	1400907	1400907	Human	1	name
127311907	CV1154935	single nucleotide variant	NM_001044.5(SLC6A3):c.653+13C>T	Parkinsonism-dystonia, infantile [RCV001518780]\|not provided [RCV001546626]	benign\|likely benign	5	1432451	1432451	Human	1	name
127317403	CV1154936	single nucleotide variant	NM_001044.5(SLC6A3):c.286+20C>G	Parkinsonism-dystonia, infantile [RCV001521081]\|not provided [RCV001685405]	benign	5	1442892	1442892	Human	1	name
150330717	CV1171356	single nucleotide variant	NM_001044.5(SLC6A3):c.927+96G>C	not provided [RCV001538239]	benign	5	1420473	1420473	Human		name
150414377	CV1176566	single nucleotide variant	NM_001044.5(SLC6A3):c.653+39C>A	not provided [RCV001548102]	likely benign	5	1432425	1432425	Human		name
150416530	CV1179953	single nucleotide variant	NM_001044.5(SLC6A3):c.654-75C>T	not provided [RCV001549698]	likely benign	5	1422089	1422089	Human		name
150494711	CV1204879	single nucleotide variant	NM_001044.5(SLC6A3):c.654-60G>A	not provided [RCV001593371]	likely benign	5	1422074	1422074	Human		name
150516640	CV1227164	single nucleotide variant	NM_001044.5(SLC6A3):c.793-76C>T	not provided [RCV001639262]	benign	5	1420779	1420779	Human		name
150434689	CV1231154	single nucleotide variant	NM_001044.5(SLC6A3):c.418+38C>T	not provided [RCV001643798]	benign	5	1441321	1441321	Human		name
150492794	CV1238543	single nucleotide variant	NM_001044.5(SLC6A3):c.286+53G>T	not provided [RCV001655087]	benign	5	1442859	1442859	Human		name
150491287	CV1239256	single nucleotide variant	NM_001044.5(SLC6A3):c.286+48G>A	not provided [RCV001654824]	benign	5	1442864	1442864	Human		name
150430761	CV1243467	single nucleotide variant	NM_001044.5(SLC6A3):c.653+27C>T	not provided [RCV001663086]	benign	5	1432437	1432437	Human		name
150431099	CV1243583	single nucleotide variant	NM_001044.5(SLC6A3):c.286+40C>T	not provided [RCV001663203]	benign	5	1442872	1442872	Human		name
150447609	CV1253429	single nucleotide variant	NM_001044.5(SLC6A3):c.419-68G>A	not provided [RCV001667357]	benign	5	1432766	1432766	Human		name
150498159	CV1271463	single nucleotide variant	NM_001044.5(SLC6A3):c.419-63C>T	not provided [RCV001689153]	benign	5	1432761	1432761	Human		name
151879857	CV1359928	single nucleotide variant	NM_001044.5(SLC6A3):c.1767+2T>C	Parkinsonism-dystonia, infantile [RCV002036710]	likely pathogenic	5	1402920	1402920	Human	1	name
151812507	CV1367506	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+5G>A	Parkinsonism-dystonia, infantile [RCV001878412]	uncertain significance	5	1411238	1411238	Human	1	name
151827139	CV1396312	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+4C>T	Parkinsonism-dystonia, infantile [RCV001934693]	uncertain significance	5	1409717	1409717	Human	1	name
151882121	CV1484470	single nucleotide variant	NM_001044.5(SLC6A3):c.1031+6C>T	Parkinsonism-dystonia, infantile [RCV001941221]	uncertain significance	5	1416092	1416092	Human	1	name
151806499	CV1487013	single nucleotide variant	NM_001044.5(SLC6A3):c.793-16C>G	Parkinsonism-dystonia, infantile [RCV001918191]	likely benign\|uncertain significance	5	1420719	1420719	Human	1	name
152115159	CV1525992	single nucleotide variant	NM_001044.5(SLC6A3):c.287-13T>C	Parkinsonism-dystonia, infantile [RCV002174833]	likely benign	5	1441503	1441503	Human	1	name
152072934	CV1598005	single nucleotide variant	NM_001044.5(SLC6A3):c.1840-8C>A	Parkinsonism-dystonia, infantile [RCV002169529]	likely benign	5	1394766	1394766	Human	1	name
152099284	CV1610638	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+9C>T	Parkinsonism-dystonia, infantile [RCV002133058]	likely benign	5	1414682	1414682	Human	1	name
152111691	CV1618538	single nucleotide variant	NM_001044.5(SLC6A3):c.653+14G>A	Parkinsonism-dystonia, infantile [RCV002080340]	likely benign	5	1432450	1432450	Human	1	name
152103695	CV1625513	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-5T>C	Parkinsonism-dystonia, infantile [RCV002152117]	likely benign	5	1414820	1414820	Human	1	name
152098212	CV1627028	single nucleotide variant	NM_001044.5(SLC6A3):c.928-18C>T	Parkinsonism-dystonia, infantile [RCV002095150]	likely benign	5	1416219	1416219	Human	1	name
156319610	CV1876369	single nucleotide variant	NM_001044.5(SLC6A3):c.792+18C>T	Parkinsonism-dystonia, infantile [RCV003062974]	likely benign	5	1421858	1421858	Human	1	name
156329510	CV1884233	single nucleotide variant	NM_001044.5(SLC6A3):c.1270-4G>A	Parkinsonism-dystonia, infantile [RCV003089706]	likely benign	5	1409853	1409853	Human	1	name
156371045	CV1923542	single nucleotide variant	NM_001044.5(SLC6A3):c.286+10A>T	Parkinsonism-dystonia, infantile [RCV002633385]	likely benign	5	1442902	1442902	Human	1	name
156085422	CV1987580	single nucleotide variant	NM_001044.5(SLC6A3):c.928-12C>G	Parkinsonism-dystonia, infantile [RCV002621680]	likely benign	5	1416213	1416213	Human	1	name
156373992	CV2003783	single nucleotide variant	NM_001044.5(SLC6A3):c.419-12C>G	Parkinsonism-dystonia, infantile [RCV002653133]	likely benign	5	1432710	1432710	Human	1	name
156172793	CV2026378	single nucleotide variant	NM_001044.5(SLC6A3):c.418+16C>A	Parkinsonism-dystonia, infantile [RCV002765370]	likely benign	5	1441343	1441343	Human	1	name
155973946	CV2088617	single nucleotide variant	NM_001044.5(SLC6A3):c.654-17C>A	Parkinsonism-dystonia, infantile [RCV002863447]	likely benign	5	1422031	1422031	Human	1	name
156376529	CV2124181	single nucleotide variant	NM_001044.5(SLC6A3):c.286+18C>T	Parkinsonism-dystonia, infantile [RCV002942767]	likely benign	5	1442894	1442894	Human	1	name
156199671	CV2187142	single nucleotide variant	NM_001044.5(SLC6A3):c.286+16G>C	Parkinsonism-dystonia, infantile [RCV003058117]	likely benign	5	1442896	1442896	Human	1	name
405078634	CV2880902	single nucleotide variant	NM_001044.5(SLC6A3):c.928-16C>T	Parkinsonism-dystonia, infantile [RCV003595295]	likely benign	5	1416217	1416217	Human	1	name
405080308	CV2888063	single nucleotide variant	NM_001044.5(SLC6A3):c.654-18G>A	Parkinsonism-dystonia, infantile [RCV003595353]	likely benign	5	1422032	1422032	Human	1	name
405060323	CV2896249	single nucleotide variant	NM_001044.5(SLC6A3):c.1498+8C>T	Parkinsonism-dystonia, infantile [RCV003593508]	likely benign	5	1409018	1409018	Human	1	name
405191406	CV2959796	single nucleotide variant	NM_001044.5(SLC6A3):c.653+12T>C	Parkinsonism-dystonia, infantile [RCV003760674]	likely benign	5	1432452	1432452	Human	1	name
405181471	CV3029834	single nucleotide variant	NM_001044.5(SLC6A3):c.653+11G>A	Parkinsonism-dystonia, infantile [RCV003759347]	likely benign	5	1432453	1432453	Human	1	name
405187558	CV3048650	single nucleotide variant	NM_001044.5(SLC6A3):c.287-20G>C	Parkinsonism-dystonia, infantile [RCV003760212]	likely benign	5	1441510	1441510	Human	1	name
405183140	CV3050456	deletion	NM_001044.5(SLC6A3):c.419-16del	Parkinsonism-dystonia, infantile [RCV003759632]	likely benign	5	1432714	1432714	Human	1	name
405187198	CV3054231	single nucleotide variant	NM_001044.5(SLC6A3):c.927+11T>A	Parkinsonism-dystonia, infantile [RCV003760156]	likely benign	5	1420558	1420558	Human	1	name
405698568	CV3227000	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+8C>A	not provided [RCV003993394]	uncertain significance	5	1409713	1409713	Human		name
597843836	CV3752434	single nucleotide variant	NM_001044.5(SLC6A3):c.928-19C>T	Parkinsonism-dystonia, infantile [RCV005086840]	likely benign	5	1416220	1416220	Human	1	name
597835410	CV3760945	single nucleotide variant	NM_001044.5(SLC6A3):c.654-14A>G	Parkinsonism-dystonia, infantile [RCV005085496]	likely benign	5	1422028	1422028	Human	1	name
597864178	CV3767004	single nucleotide variant	NM_001044.5(SLC6A3):c.1599+9C>A	Parkinsonism-dystonia, infantile [RCV005106526]	likely benign	5	1406179	1406179	Human	1	name
597969420	CV3791240	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-1G>C	Parkinsonism-dystonia, infantile [RCV005141272]	likely pathogenic	5	1414816	1414816	Human	1	name
597935062	CV3793691	single nucleotide variant	NM_001044.5(SLC6A3):c.792+12G>A	Parkinsonism-dystonia, infantile [RCV005132347]	likely benign	5	1421864	1421864	Human	1	name
597965671	CV3823548	single nucleotide variant	NM_001044.5(SLC6A3):c.418+18C>T	Parkinsonism-dystonia, infantile [RCV005164968]	likely benign	5	1441341	1441341	Human	1	name
8601989	CV38640	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+1G>A	Classic dopamine transporter deficiency syndrome [RCV000022531]\|Parkinsonism-dystonia, infantile [RCV003593863]\|not provided [RCV000493130]	pathogenic	5	1411242	1411242	Human	2	name
13534147	CV512901	single nucleotide variant	NM_001044.5(SLC6A3):c.419-12C>A	Classic dopamine transporter deficiency syndrome [RCV000625456]\|Parkinsonism-dystonia, infantile [RCV001513605]\|not provided [RCV001530756]	benign	5	1432710	1432710	Human	2	name
13836819	CV588100	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+8C>T	not provided [RCV000733046]	uncertain significance	5	1414683	1414683	Human		name
15123280	CV685178	single nucleotide variant	NM_001044.5(SLC6A3):c.1839+9G>A	Parkinsonism-dystonia, infantile [RCV000862211]	benign	5	1400906	1400906	Human	1	name
15124344	CV685180	single nucleotide variant	NM_001044.5(SLC6A3):c.792+10G>A	Parkinsonism-dystonia, infantile [RCV001434858]	likely benign	5	1421866	1421866	Human	1	name
15133050	CV695279	single nucleotide variant	NM_001044.5(SLC6A3):c.1498+9G>A	not provided [RCV000876252]	likely benign	5	1409017	1409017	Human		name
38461924	CV920206	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+5G>A	Classic dopamine transporter deficiency syndrome [RCV001198035]	likely pathogenic	5	1409716	1409716	Human	1	name
126730764	CV990733	single nucleotide variant	NM_001044.5(SLC6A3):c.287-16C>A	Parkinsonism-dystonia, infantile [RCV001294258]	likely benign\|uncertain significance	5	1441506	1441506	Human	1	name
150333238	CV1169080	single nucleotide variant	NM_001044.5(SLC6A3):c.1270-21G>A	not provided [RCV001537227]	benign	5	1409870	1409870	Human		name
150332343	CV1169086	single nucleotide variant	NM_001044.5(SLC6A3):c.286+295C>G	not provided [RCV001536836]	benign	5	1442617	1442617	Human		name
150409682	CV1175288	single nucleotide variant	NM_001044.5(SLC6A3):c.1031+71G>T	Classic dopamine transporter deficiency syndrome [RCV001544213]\|not provided [RCV001658275]	benign	5	1416027	1416027	Human	1	name
150411236	CV1176573	single nucleotide variant	NM_001044.5(SLC6A3):c.-45-101G>A	not provided [RCV001547056]	likely benign	5	1443343	1443343	Human		name
150422580	CV1179952	single nucleotide variant	NM_001044.5(SLC6A3):c.792+223C>A	not provided [RCV001552834]	likely benign	5	1421653	1421653	Human		name
150417760	CV1179958	single nucleotide variant	NM_001044.5(SLC6A3):c.419-109T>G	not provided [RCV001550286]	likely benign	5	1432807	1432807	Human		name
150424435	CV1183567	single nucleotide variant	NM_001044.5(SLC6A3):c.927+110G>C	not provided [RCV001556654]	likely benign	5	1420459	1420459	Human		name
150429102	CV1186861	single nucleotide variant	NM_001044.5(SLC6A3):c.419-260A>G	not provided [RCV001563157]	likely benign	5	1432958	1432958	Human		name
150438154	CV1201363	single nucleotide variant	NM_001044.5(SLC6A3):c.-45-145C>T	not provided [RCV001583175]	likely benign	5	1443387	1443387	Human		name
150438594	CV1201425	single nucleotide variant	NM_001044.5(SLC6A3):c.287-106G>A	not provided [RCV001583237]	likely benign	5	1441596	1441596	Human		name
150459046	CV1202862	single nucleotide variant	NM_001044.5(SLC6A3):c.1768-76G>T	not provided [RCV001586515]	likely benign	5	1401062	1401062	Human		name
150471087	CV1209471	single nucleotide variant	NM_001044.5(SLC6A3):c.287-119G>A	not provided [RCV001588582]	likely benign	5	1441609	1441609	Human		name
150457403	CV1219610	single nucleotide variant	NM_001044.5(SLC6A3):c.1270-56A>G	not provided [RCV001612826]	benign	5	1409905	1409905	Human		name
150481605	CV1222192	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+95C>T	not provided [RCV001616990]	benign	5	1409626	1409626	Human		name
150461720	CV1234815	single nucleotide variant	NM_001044.5(SLC6A3):c.928-330C>T	not provided [RCV001649397]	benign	5	1416531	1416531	Human		name
150430364	CV1242951	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+55C>G	not provided [RCV001662884]	benign	5	1414636	1414636	Human		name
150459060	CV1248607	duplication	NM_001044.5(SLC6A3):c.419-156dup	not provided [RCV001669217]	benign	5	1432851	1432852	Human		name
150473871	CV1252477	single nucleotide variant	NM_001044.5(SLC6A3):c.-45-246A>G	not provided [RCV001671680]	benign	5	1443488	1443488	Human		name
150505343	CV1255447	single nucleotide variant	NM_001044.5(SLC6A3):c.1499-95G>A	not provided [RCV001677894]	benign	5	1406383	1406383	Human		name
150505460	CV1255478	single nucleotide variant	NM_001044.5(SLC6A3):c.-45-141C>T	not provided [RCV001677925]	benign	5	1443383	1443383	Human		name
150467663	CV1255943	single nucleotide variant	NM_001044.5(SLC6A3):c.-45-247G>A	not provided [RCV001670577]	benign	5	1443489	1443489	Human		name
150449850	CV1260877	single nucleotide variant	NM_001044.5(SLC6A3):c.927+208G>A	not provided [RCV001680546]	benign	5	1420361	1420361	Human		name
150450018	CV1260902	single nucleotide variant	NM_001044.5(SLC6A3):c.927+302A>T	not provided [RCV001680571]	benign	5	1420267	1420267	Human		name
150442207	CV1264395	single nucleotide variant	NM_001044.5(SLC6A3):c.792+258C>T	not provided [RCV001679378]	benign	5	1421618	1421618	Human		name
150454859	CV1266086	single nucleotide variant	NM_001044.5(SLC6A3):c.418+168G>A	not provided [RCV001692663]	benign	5	1441191	1441191	Human		name
150466131	CV1268723	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+33C>T	not provided [RCV001694419]	benign	5	1414658	1414658	Human		name
150449991	CV1273708	single nucleotide variant	NM_001044.5(SLC6A3):c.792+259G>A	not provided [RCV001691808]	benign	5	1421617	1421617	Human		name
150483876	CV1280303	single nucleotide variant	NM_001044.5(SLC6A3):c.286+185G>A	not provided [RCV001715261]	benign	5	1442727	1442727	Human		name
150493279	CV1281804	single nucleotide variant	NM_001044.5(SLC6A3):c.1600-40C>T	not provided [RCV001716974]	benign	5	1403129	1403129	Human		name
150437040	CV1286479	single nucleotide variant	NM_001044.5(SLC6A3):c.286+270G>A	not provided [RCV001724557]	benign	5	1442642	1442642	Human		name
151235031	CV1318290	single nucleotide variant	NM_001044.5(SLC6A3):c.418+213G>T	not provided [RCV001794613]	likely benign	5	1441146	1441146	Human		name
151810237	CV1417321	single nucleotide variant	NM_001044.5(SLC6A3):c.1157-15C>T	Parkinsonism-dystonia, infantile [RCV002028900]\|not provided [RCV004694121]	likely benign\|uncertain significance	5	1411370	1411370	Human	1	name
152160079	CV1522780	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+20C>T	Parkinsonism-dystonia, infantile [RCV002140767]	likely benign	5	1411223	1411223	Human	1	name
152037768	CV1524965	single nucleotide variant	NM_001044.5(SLC6A3):c.1600-17G>A	Parkinsonism-dystonia, infantile [RCV002165231]	likely benign	5	1403106	1403106	Human	1	name
152038468	CV1529800	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+12G>A	Parkinsonism-dystonia, infantile [RCV002187889]	benign	5	1411231	1411231	Human	1	name
152142895	CV1538312	single nucleotide variant	NM_001044.5(SLC6A3):c.1599+13G>A	Parkinsonism-dystonia, infantile [RCV002219609]	likely benign	5	1406175	1406175	Human	1	name
152165037	CV1543678	single nucleotide variant	NM_001044.5(SLC6A3):c.1270-10C>T	Parkinsonism-dystonia, infantile [RCV002123930]	likely benign	5	1409859	1409859	Human	1	name
152108854	CV1550857	single nucleotide variant	NM_001044.5(SLC6A3):c.1499-14C>T	Parkinsonism-dystonia, infantile [RCV002152773]	likely benign	5	1406302	1406302	Human	1	name
152029253	CV1555714	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-20G>A	Parkinsonism-dystonia, infantile [RCV002186102]	likely benign	5	1414835	1414835	Human	1	name
152139198	CV1571076	single nucleotide variant	NM_001044.5(SLC6A3):c.1600-18C>T	Parkinsonism-dystonia, infantile [RCV002120123]	likely benign	5	1403107	1403107	Human	1	name
152127926	CV1572162	single nucleotide variant	NM_001044.5(SLC6A3):c.1599+12C>G	Parkinsonism-dystonia, infantile [RCV002217663]\|not provided [RCV004711777]	likely benign	5	1406176	1406176	Human	1	name
152087435	CV1601234	single nucleotide variant	NM_001044.5(SLC6A3):c.1767+19C>T	Parkinsonism-dystonia, infantile [RCV002093686]	likely benign	5	1402903	1402903	Human	1	name
152162895	CV1606394	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-20G>C	Parkinsonism-dystonia, infantile [RCV002181238]	likely benign	5	1414835	1414835	Human	1	name
152147411	CV1615660	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+17G>A	Parkinsonism-dystonia, infantile [RCV002101692]	benign	5	1411226	1411226	Human	1	name
152141541	CV1628959	single nucleotide variant	NM_001044.5(SLC6A3):c.1499-12C>G	Parkinsonism-dystonia, infantile [RCV002100843]	likely benign	5	1406300	1406300	Human	1	name
152141888	CV1629015	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+16C>T	Parkinsonism-dystonia, infantile [RCV002100889]	likely benign	5	1411227	1411227	Human	1	name
152173184	CV1637559	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-14T>C	Parkinsonism-dystonia, infantile [RCV002162715]	likely benign	5	1414829	1414829	Human	1	name
152063386	CV1644729	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-18C>T	Parkinsonism-dystonia, infantile [RCV002147059]	benign	5	1414833	1414833	Human	1	name
152113962	CV1659549	single nucleotide variant	NM_001044.5(SLC6A3):c.1767+13A>G	Parkinsonism-dystonia, infantile [RCV002080635]\|Tobacco addiction, susceptibility to [RCV002498274]	benign\|likely benign	5	1402909	1402909	Human	2	name
152062890	CV1663816	single nucleotide variant	NM_001044.5(SLC6A3):c.1157-20C>G	Parkinsonism-dystonia, infantile [RCV002073893]	likely benign	5	1411375	1411375	Human	1	name
156372412	CV1878450	single nucleotide variant	NM_001044.5(SLC6A3):c.1767+15G>A	Parkinsonism-dystonia, infantile [RCV003066408]	likely benign	5	1402907	1402907	Human	1	name
156294805	CV1904514	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+12G>T	Parkinsonism-dystonia, infantile [RCV002598901]	likely benign	5	1411231	1411231	Human	1	name
155955076	CV1915329	single nucleotide variant	NM_001044.5(SLC6A3):c.1399-19A>G	Parkinsonism-dystonia, infantile [RCV002616429]	likely benign	5	1409144	1409144	Human	1	name
156141079	CV1921863	single nucleotide variant	NM_001044.5(SLC6A3):c.1767+16G>A	Parkinsonism-dystonia, infantile [RCV002623663]	likely benign	5	1402906	1402906	Human	1	name
156296502	CV1924146	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+12C>T	Parkinsonism-dystonia, infantile [RCV002629039]	likely benign	5	1409709	1409709	Human	1	name
156148539	CV1964081	deletion	NM_001044.5(SLC6A3):c.1399-11del	Parkinsonism-dystonia, infantile [RCV002572823]	benign	5	1409136	1409136	Human	1	name
155905050	CV2007288	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+13G>A	Parkinsonism-dystonia, infantile [RCV002681343]	likely benign	5	1409708	1409708	Human	1	name
156234918	CV2081709	single nucleotide variant	NM_001044.5(SLC6A3):c.1399-11C>T	Parkinsonism-dystonia, infantile [RCV002876380]	likely benign	5	1409136	1409136	Human	1	name
155998798	CV2092080	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-17G>A	Parkinsonism-dystonia, infantile [RCV002908523]	likely benign	5	1414832	1414832	Human	1	name
156260366	CV2099030	single nucleotide variant	NM_001044.5(SLC6A3):c.1839+15C>T	Parkinsonism-dystonia, infantile [RCV002895554]	likely benign	5	1400900	1400900	Human	1	name
156206462	CV2103751	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+16G>A	Parkinsonism-dystonia, infantile [RCV002931883]	likely benign	5	1409705	1409705	Human	1	name
155938215	CV2110483	single nucleotide variant	NM_001044.5(SLC6A3):c.1270-12C>T	Parkinsonism-dystonia, infantile [RCV002904286]	likely benign	5	1409861	1409861	Human	1	name
405172481	CV2998387	single nucleotide variant	NM_001044.5(SLC6A3):c.1270-19C>T	Parkinsonism-dystonia, infantile [RCV003758292]	likely benign	5	1409868	1409868	Human	1	name
405188938	CV3060362	single nucleotide variant	NM_001044.5(SLC6A3):c.1767+14C>T	Parkinsonism-dystonia, infantile [RCV003760303]	likely benign	5	1402908	1402908	Human	1	name
405105120	CV3134985	single nucleotide variant	NM_001044.5(SLC6A3):c.1768-12T>C	Parkinsonism-dystonia, infantile [RCV003835137]	likely benign	5	1400998	1400998	Human	1	name
597830834	CV3739492	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+11C>T	Parkinsonism-dystonia, infantile [RCV005062382]	likely benign	5	1411232	1411232	Human	1	name
597853736	CV3758658	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+13G>T	Parkinsonism-dystonia, infantile [RCV005088219]	likely benign	5	1409708	1409708	Human	1	name
597965299	CV3797048	single nucleotide variant	NM_001044.5(SLC6A3):c.1031+17G>A	Parkinsonism-dystonia, infantile [RCV005140008]	likely benign	5	1416081	1416081	Human	1	name
13533799	CV508799	single nucleotide variant	NM_001044.5(SLC6A3):c.1498+14A>G	Classic dopamine transporter deficiency syndrome [RCV000610704]\|Parkinsonism-dystonia, infantile [RCV001513604]\|not provided [RCV001692224]	benign	5	1409012	1409012	Human	2	name
15131579	CV685179	single nucleotide variant	NM_001044.5(SLC6A3):c.1498+10G>A	Parkinsonism-dystonia, infantile [RCV000863642]	benign	5	1409016	1409016	Human	1	name
150333681	CV1169081	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+102T>G	not provided [RCV001537453]	benign	5	1411141	1411141	Human		name
150411124	CV1176558	single nucleotide variant	NM_001044.5(SLC6A3):c.1399-262G>A	not provided [RCV001546997]	likely benign	5	1409387	1409387	Human		name
150418269	CV1179944	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+238C>A	not provided [RCV001550525]	likely benign	5	1414453	1414453	Human		name
150425026	CV1183557	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+276C>A	not provided [RCV001557456]	likely benign	5	1414415	1414415	Human		name
150426056	CV1183558	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-111C>T	not provided [RCV001558853]	likely benign	5	1414926	1414926	Human		name
150423246	CV1183559	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-242G>A	not provided [RCV001555062]	likely benign	5	1415057	1415057	Human		name
150427199	CV1186850	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+270G>T	not provided [RCV001560615]	likely benign	5	1414421	1414421	Human		name
150429325	CV1186851	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+229C>T	not provided [RCV001563453]	likely benign	5	1414462	1414462	Human		name
150410455	CV1190290	single nucleotide variant	NM_001044.5(SLC6A3):c.1767+280C>G	not provided [RCV001566060]	likely benign	5	1402642	1402642	Human		name
150414722	CV1190291	single nucleotide variant	NM_001044.5(SLC6A3):c.1499-185C>T	not provided [RCV001567666]	likely benign	5	1406473	1406473	Human		name
150417451	CV1193533	single nucleotide variant	NM_001044.5(SLC6A3):c.1499-239C>T	not provided [RCV001568774]	likely benign	5	1406527	1406527	Human		name
150414996	CV1197305	single nucleotide variant	NM_001044.5(SLC6A3):c.1839+185G>A	not provided [RCV001575203]	likely benign	5	1400730	1400730	Human		name
150413723	CV1197309	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+299T>C	not provided [RCV001574711]	likely benign	5	1414392	1414392	Human		name
150432905	CV1200884	single nucleotide variant	NM_001044.5(SLC6A3):c.1032-138C>T	not provided [RCV001581608]	likely benign	5	1414953	1414953	Human		name
150475129	CV1202199	single nucleotide variant	NM_001044.5(SLC6A3):c.1840-240G>A	not provided [RCV001589442]	likely benign	5	1394998	1394998	Human		name
150513818	CV1210713	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+305T>C	not provided [RCV001598754]	benign	5	1414386	1414386	Human		name
150445356	CV1215479	single nucleotide variant	NM_001044.5(SLC6A3):c.1840-204G>A	not provided [RCV001611072]	benign	5	1394962	1394962	Human		name
150478608	CV1218813	single nucleotide variant	NM_001044.5(SLC6A3):c.1270-109T>C	not provided [RCV001616441]	benign	5	1409958	1409958	Human		name
150514155	CV1228081	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+207A>C	not provided [RCV001638359]	benign	5	1414484	1414484	Human		name
150507690	CV1229152	single nucleotide variant	NM_001044.5(SLC6A3):c.1157-229G>A	not provided [RCV001636023]	benign	5	1411584	1411584	Human		name
150452810	CV1231753	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+231C>T	not provided [RCV001648060]	benign	5	1414460	1414460	Human		name
150454281	CV1232242	single nucleotide variant	NM_001044.5(SLC6A3):c.1398+117G>A	not provided [RCV001648255]	benign	5	1409604	1409604	Human		name
150441010	CV1233475	single nucleotide variant	NM_001044.5(SLC6A3):c.1768-279G>A	not provided [RCV001645163]	benign	5	1401265	1401265	Human		name
150435673	CV1233926	single nucleotide variant	NM_001044.5(SLC6A3):c.1399-242G>A	not provided [RCV001644053]	benign	5	1409367	1409367	Human		name
150431603	CV1234217	single nucleotide variant	NM_001044.5(SLC6A3):c.1499-260C>T	not provided [RCV001641870]	benign	5	1406548	1406548	Human		name
150496973	CV1236945	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+269C>T	not provided [RCV001656009]	benign	5	1414422	1414422	Human		name
150430331	CV1242934	single nucleotide variant	NM_001044.5(SLC6A3):c.1600-282A>G	not provided [RCV001662867]	benign	5	1403371	1403371	Human		name
150510260	CV1248590	single nucleotide variant	NM_001044.5(SLC6A3):c.1269+115C>T	not provided [RCV001659660]	benign	5	1411128	1411128	Human		name
150473039	CV1252341	deletion	NM_001044.5(SLC6A3):c.1156+292del	not provided [RCV001671543]	benign	5	1414399	1414399	Human		name
150501557	CV1256329	single nucleotide variant	NM_001044.5(SLC6A3):c.1839+280C>T	not provided [RCV001676953]	benign	5	1400635	1400635	Human		name
150437502	CV1262317	single nucleotide variant	NM_001044.5(SLC6A3):c.1599+267G>T	not provided [RCV001678675]	benign	5	1405921	1405921	Human		name
150458602	CV1269661	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+194G>T	not provided [RCV001693201]	benign	5	1414497	1414497	Human		name
150450847	CV1276519	single nucleotide variant	NM_001044.5(SLC6A3):c.1498+162T>G	not provided [RCV001708308]	benign	5	1408864	1408864	Human		name
150477030	CV1279376	single nucleotide variant	NM_001044.5(SLC6A3):c.1840-258C>T	not provided [RCV001714074]	benign	5	1395016	1395016	Human		name
150441792	CV1287623	single nucleotide variant	NM_001044.5(SLC6A3):c.1156+245C>A	not provided [RCV001725343]	benign	5	1414446	1414446	Human		name
151662973	CV1330804	single nucleotide variant	NM_001044.5(SLC6A3):c.1600-137G>T	not provided [RCV001824540]	likely benign	5	1403226	1403226	Human		name
405085672	CV3081075	single nucleotide variant	NM_001044.5(SLC6A3):c.419-3595A>T	Schizophrenia [RCV003634408]	benign	5	1436293	1436293	Human	2	name
596948289	CV3549371	single nucleotide variant	NM_001044.5(SLC6A3):c.1599+200C>T	not provided [RCV004812191]	likely benign	5	1405988	1405988	Human		name
150417062	CV1197306	microsatellite	NM_001044.5(SLC6A3):c.1839+26TC[2]	not provided [RCV001576140]	likely benign	5	1400884	1400885	Human		name
405085684	CV3081076	deletion	NM_001044.5(SLC6A3):c.950_989del	Schizophrenia [RCV003634409]	uncertain risk allele	5	1393746	1393785	Human	2	name
150331251	CV1171352	microsatellite	NM_001044.5(SLC6A3):c.*314TGCTCCC[1]	not provided [RCV001538554]	likely benign	5	1394408	1394414	Human		name
405162168	CV3125167	deletion	NM_001044.5(SLC6A3):c.927+8_927+9del	Parkinsonism-dystonia, infantile [RCV003818439]	likely benign	5	1420560	1420561	Human	1	name
151813349	CV1373169	duplication	NM_001044.5(SLC6A3):c.1dup (p.Met1fs)	Parkinsonism-dystonia, infantile [RCV001900169]	uncertain significance	5	1443196	1443197	Human	1	name
156269471	CV1899315	single nucleotide variant	NM_001044.5(SLC6A3):c.24G>A (p.Val8=)	Parkinsonism-dystonia, infantile [RCV003086728]	uncertain significance	5	1443174	1443174	Human	1	name
156327220	CV2094513	single nucleotide variant	NM_001044.5(SLC6A3):c.21C>T (p.Ser7=)	Parkinsonism-dystonia, infantile [RCV002899702]	likely benign	5	1443177	1443177	Human	1	name
127271750	CV1072462	single nucleotide variant	NM_001044.5(SLC6A3):c.48C>A (p.Ala16=)	Parkinsonism-dystonia, infantile [RCV001405437]	likely benign	5	1443150	1443150	Human	1	name
127271410	CV1094070	single nucleotide variant	NM_001044.5(SLC6A3):c.57G>A (p.Lys19=)	Parkinsonism-dystonia, infantile [RCV001441832]	likely benign	5	1443141	1443141	Human	1	name
152082413	CV1526186	duplication	NM_001044.5(SLC6A3):c.1398+5_1398+6dup	Parkinsonism-dystonia, infantile [RCV002170711]	likely benign	5	1409714	1409715	Human	1	name
152051527	CV1596959	single nucleotide variant	NM_001044.5(SLC6A3):c.42G>T (p.Val14=)	Parkinsonism-dystonia, infantile [RCV002166939]	likely benign	5	1443156	1443156	Human	1	name
156242094	CV2105366	single nucleotide variant	NM_001044.5(SLC6A3):c.84G>A (p.Glu28=)	Parkinsonism-dystonia, infantile [RCV002933236]	likely benign	5	1443114	1443114	Human	1	name
156159916	CV2128634	single nucleotide variant	NM_001044.5(SLC6A3):c.69C>T (p.Ala23=)	Parkinsonism-dystonia, infantile [RCV002929204]	likely benign	5	1443129	1443129	Human	1	name
408366994	CV3509100	deletion	NM_001044.5(SLC6A3):c.1767+2_1767+3del	SLC6A3-related disorder [RCV004757669]	likely pathogenic	5	1402919	1402920	Human		name , trait , alternate_id
13488118	CV454676	single nucleotide variant	NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)	Parkinsonism-dystonia, infantile [RCV000554641]\|Tobacco addiction, susceptibility to [RCV002497165]	benign\|likely benign	5	1443138	1443138	Human	2	name
13620014	CV520794	microsatellite	NM_001044.5(SLC6A3):c.1768-7_1768-6del	Parkinsonism-dystonia, infantile [RCV002234686]	uncertain significance	5	1400992	1400993	Human		name
15125234	CV683718	single nucleotide variant	NM_001044.5(SLC6A3):c.78G>A (p.Pro26=)	Parkinsonism-dystonia, infantile [RCV000862550]	likely benign	5	1443120	1443120	Human	1	name
15128373	CV685177	duplication	NM_001044.5(SLC6A3):c.1840-7_1840-3dup	Parkinsonism-dystonia, infantile [RCV005092549]	likely benign	5	1394760	1394761	Human	1	name
152148282	CV1528821	single nucleotide variant	NM_001044.5(SLC6A3):c.162C>G (p.Pro54=)	Parkinsonism-dystonia, infantile [RCV002101822]	likely benign	5	1443036	1443036	Human	1	name
152037724	CV1572231	single nucleotide variant	NM_001044.5(SLC6A3):c.129C>T (p.Thr43=)	Parkinsonism-dystonia, infantile [RCV002205864]	likely benign	5	1443069	1443069	Human	1	name
152045217	CV1590667	single nucleotide variant	NM_001044.5(SLC6A3):c.150G>A (p.Pro50=)	Parkinsonism-dystonia, infantile [RCV002108265]	likely benign	5	1443048	1443048	Human	1	name
156411766	CV1893950	single nucleotide variant	NM_001044.5(SLC6A3):c.132C>T (p.Ser44=)	Parkinsonism-dystonia, infantile [RCV003072616]	likely benign	5	1443066	1443066	Human	1	name
156356522	CV2001620	single nucleotide variant	NM_001044.5(SLC6A3):c.117A>G (p.Gly39=)	Parkinsonism-dystonia, infantile [RCV002675963]	likely benign	5	1443081	1443081	Human	1	name
156315625	CV2104072	microsatellite	NM_001044.5(SLC6A3):c.1839+9_1839+14del	Parkinsonism-dystonia, infantile [RCV002937426]	likely benign	5	1400901	1400906	Human		name
156230394	CV2111993	single nucleotide variant	NM_001044.5(SLC6A3):c.213G>A (p.Leu71=)	Parkinsonism-dystonia, infantile [RCV002918914]	likely benign	5	1442985	1442985	Human	1	name
156012739	CV2123010	single nucleotide variant	NM_001044.5(SLC6A3):c.267G>A (p.Leu89=)	Parkinsonism-dystonia, infantile [RCV002975734]	likely benign	5	1442931	1442931	Human	1	name
155945280	CV2130182	single nucleotide variant	NM_001044.5(SLC6A3):c.147C>T (p.Asn49=)	Parkinsonism-dystonia, infantile [RCV002971544]	likely benign	5	1443051	1443051	Human	1	name
156072574	CV2141530	single nucleotide variant	NM_001044.5(SLC6A3):c.180G>T (p.Arg60=)	Parkinsonism-dystonia, infantile [RCV002978986]	likely benign	5	1443018	1443018	Human	1	name
405077783	CV2879822	single nucleotide variant	NM_001044.5(SLC6A3):c.162C>A (p.Pro54=)	Parkinsonism-dystonia, infantile [RCV003595215]	likely benign	5	1443036	1443036	Human	1	name
405187292	CV3052715	single nucleotide variant	NM_001044.5(SLC6A3):c.246C>T (p.Asn82=)	Parkinsonism-dystonia, infantile [RCV003760260]	likely benign	5	1442952	1442952	Human	1	name
405188642	CV3064719	single nucleotide variant	NM_001044.5(SLC6A3):c.231T>C (p.Ala77=)	Parkinsonism-dystonia, infantile [RCV003760345]	likely benign	5	1442967	1442967	Human	1	name
597856323	CV3849691	single nucleotide variant	NM_001044.5(SLC6A3):c.168G>A (p.Glu56=)	Parkinsonism-dystonia, infantile [RCV005195199]	likely benign	5	1443030	1443030	Human	1	name
598259845	CV3921957	single nucleotide variant	NM_001044.5(SLC6A3):c.22G>A (p.Val8Met)	Inborn genetic diseases [RCV005279665]	uncertain significance	5	1443176	1443176	Human	1	name
13495292	CV454771	single nucleotide variant	NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)	Classic dopamine transporter deficiency syndrome [RCV000537027]\|Parkinsonism-dystonia, infantile [RCV000857992]\|not provided [RCV001572080]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	1443036	1443036	Human	2	name
13474519	CV455236	single nucleotide variant	NM_001044.5(SLC6A3):c.150G>T (p.Pro50=)	Parkinsonism-dystonia, infantile [RCV000548298]\|not provided [RCV001637077]	benign	5	1443048	1443048	Human	1	name
13534148	CV512902	single nucleotide variant	NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)	Classic dopamine transporter deficiency syndrome [RCV000625457]\|Parkinsonism-dystonia, infantile [RCV001521511]\|not provided [RCV001613413]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	1443084	1443084	Human	2	name
13620020	CV521298	single nucleotide variant	NM_001044.5(SLC6A3):c.201C>T (p.Ile67=)	Parkinsonism-dystonia, infantile [RCV002234086]	likely benign	5	1442997	1442997	Human	1	name
14722766	CV633549	single nucleotide variant	NM_001044.5(SLC6A3):c.285C>T (p.Gly95=)	Parkinsonism-dystonia, infantile [RCV002234307]	likely benign\|uncertain significance	5	1442913	1442913	Human	1	name
15152080	CV698890	single nucleotide variant	NM_001044.5(SLC6A3):c.216C>T (p.Ser72=)	Parkinsonism-dystonia, infantile [RCV002548232]	likely benign	5	1442982	1442982	Human	1	name
8631481	CV86685	single nucleotide variant	NM_001044.4(SLC6A3):c.258C>T (p.Phe86=)	Malignant melanoma [RCV000066776]	not provided	5	1442940	1442940	Human		name
127268513	CV1094067	single nucleotide variant	NM_001044.5(SLC6A3):c.732G>C (p.Leu244=)	Parkinsonism-dystonia, infantile [RCV001429974]	likely benign	5	1421936	1421936	Human	1	name
127279154	CV1094068	single nucleotide variant	NM_001044.5(SLC6A3):c.444C>T (p.Ile148=)	Parkinsonism-dystonia, infantile [RCV001445560]	likely benign	5	1432673	1432673	Human	1	name
127312258	CV1115610	single nucleotide variant	NM_001044.5(SLC6A3):c.915C>A (p.Leu305=)	Parkinsonism-dystonia, infantile [RCV001457106]	likely benign	5	1420581	1420581	Human	1	name
127314434	CV1115611	single nucleotide variant	NM_001044.5(SLC6A3):c.384C>T (p.Ala128=)	Parkinsonism-dystonia, infantile [RCV001457679]	likely benign	5	1441393	1441393	Human	1	name
127322059	CV1136594	single nucleotide variant	NM_001044.5(SLC6A3):c.960C>T (p.Phe320=)	Parkinsonism-dystonia, infantile [RCV001504965]	likely benign	5	1416169	1416169	Human	1	name
127320608	CV1136598	single nucleotide variant	NM_001044.5(SLC6A3):c.471C>T (p.Asn157=)	Parkinsonism-dystonia, infantile [RCV001504439]\|not provided [RCV004711698]	likely benign	5	1432646	1432646	Human	1	name
127307789	CV1136601	single nucleotide variant	NM_001044.5(SLC6A3):c.375G>A (p.Arg125=)	Parkinsonism-dystonia, infantile [RCV001500607]	likely benign	5	1441402	1441402	Human	1	name
150411771	CV1190289	deletion	NM_001044.5(SLC6A3):c.1840-68_1840-49del	not provided [RCV001566711]	likely benign	5	1394807	1394826	Human		name
151822044	CV1355119	single nucleotide variant	NM_001044.5(SLC6A3):c.918C>T (p.Cys306=)	Parkinsonism-dystonia, infantile [RCV001934238]	likely benign\|uncertain significance	5	1420578	1420578	Human	1	name
151723197	CV1358145	single nucleotide variant	NM_001044.5(SLC6A3):c.40G>A (p.Val14Met)	Parkinsonism-dystonia, infantile [RCV001945199]	uncertain significance	5	1443158	1443158	Human	1	name
151797039	CV1392737	single nucleotide variant	NM_001044.5(SLC6A3):c.81G>C (p.Lys27Asn)	Parkinsonism-dystonia, infantile [RCV001898713]	uncertain significance	5	1443117	1443117	Human	1	name
151850655	CV1460267	single nucleotide variant	NM_001044.5(SLC6A3):c.71T>G (p.Val24Gly)	Inborn genetic diseases [RCV002547955]\|Parkinsonism-dystonia, infantile [RCV001904050]	uncertain significance	5	1443127	1443127	Human	2	name
151764358	CV1516943	single nucleotide variant	NM_001044.5(SLC6A3):c.82G>C (p.Glu28Gln)	Inborn genetic diseases [RCV004970814]\|Parkinsonism-dystonia, infantile [RCV002024735]	uncertain significance	5	1443116	1443116	Human	2	name
152122102	CV1547698	single nucleotide variant	NM_001044.5(SLC6A3):c.939C>T (p.Asp313=)	Parkinsonism-dystonia, infantile [RCV002081694]	likely benign	5	1416190	1416190	Human	1	name
152121464	CV1570249	single nucleotide variant	NM_001044.5(SLC6A3):c.876C>T (p.Asp292=)	Parkinsonism-dystonia, infantile [RCV002216836]	likely benign	5	1420620	1420620	Human	1	name
152146151	CV1582766	single nucleotide variant	NM_001044.5(SLC6A3):c.837C>G (p.Ala279=)	Parkinsonism-dystonia, infantile [RCV002201268]	likely benign	5	1420659	1420659	Human	1	name
152113119	CV1595290	single nucleotide variant	NM_001044.5(SLC6A3):c.924G>A (p.Ala308=)	Parkinsonism-dystonia, infantile [RCV002116815]	likely benign	5	1420572	1420572	Human	1	name
156325567	CV1871190	single nucleotide variant	NM_001044.5(SLC6A3):c.660C>T (p.Gly220=)	Parkinsonism-dystonia, infantile [RCV003063377]	likely benign	5	1422008	1422008	Human	1	name
156275142	CV1900187	single nucleotide variant	NM_001044.5(SLC6A3):c.774C>T (p.Gly258=)	Parkinsonism-dystonia, infantile [RCV003086926]	likely benign	5	1421894	1421894	Human	1	name
156146178	CV1932117	single nucleotide variant	NM_001044.5(SLC6A3):c.744C>T (p.Ile248=)	Parkinsonism-dystonia, infantile [RCV002623840]	likely benign	5	1421924	1421924	Human	1	name
156439289	CV1939170	single nucleotide variant	NM_001044.5(SLC6A3):c.942G>A (p.Ala314=)	Parkinsonism-dystonia, infantile [RCV003109254]	likely benign	5	1416187	1416187	Human	1	name
156115634	CV1958301	single nucleotide variant	NM_001044.5(SLC6A3):c.50C>A (p.Pro17Gln)	Parkinsonism-dystonia, infantile [RCV002592936]	uncertain significance	5	1443148	1443148	Human	1	name
156392308	CV1991474	single nucleotide variant	NM_001044.5(SLC6A3):c.897C>T (p.Ser299=)	Parkinsonism-dystonia, infantile [RCV002635110]	likely benign	5	1420599	1420599	Human	1	name
156297425	CV2017132	single nucleotide variant	NM_001044.5(SLC6A3):c.732G>A (p.Leu244=)	Parkinsonism-dystonia, infantile [RCV002715906]	likely benign	5	1421936	1421936	Human	1	name
156133679	CV2022848	single nucleotide variant	NM_001044.5(SLC6A3):c.678G>A (p.Gln226=)	Parkinsonism-dystonia, infantile [RCV002740655]	likely benign	5	1421990	1421990	Human	1	name
155954460	CV2077467	single nucleotide variant	NM_001044.5(SLC6A3):c.963C>T (p.Ser321=)	Parkinsonism-dystonia, infantile [RCV002880685]	likely benign	5	1416166	1416166	Human	1	name
156108752	CV2085656	single nucleotide variant	NM_001044.5(SLC6A3):c.741C>T (p.Val247=)	Parkinsonism-dystonia, infantile [RCV002848363]	likely benign	5	1421927	1421927	Human	1	name
156000409	CV2122835	single nucleotide variant	NM_001044.5(SLC6A3):c.693C>T (p.Asp231=)	Parkinsonism-dystonia, infantile [RCV002975155]	likely benign	5	1421975	1421975	Human	1	name
156222247	CV2144239	single nucleotide variant	NM_001044.5(SLC6A3):c.480C>T (p.Ile160=)	Parkinsonism-dystonia, infantile [RCV003007427]	likely benign	5	1432637	1432637	Human	1	name
11637711	CV271479	single nucleotide variant	NM_001044.5(SLC6A3):c.330G>A (p.Gly110=)	Parkinsonism-dystonia, infantile [RCV002059216]\|not provided [RCV000290679]	likely benign\|uncertain significance	5	1441447	1441447	Human	1	name
405180275	CV3029561	single nucleotide variant	NM_001044.5(SLC6A3):c.870C>T (p.Ala290=)	Parkinsonism-dystonia, infantile [RCV003759339]	likely benign	5	1420626	1420626	Human	1	name
405180819	CV3030543	single nucleotide variant	NM_001044.5(SLC6A3):c.708G>A (p.Pro236=)	Parkinsonism-dystonia, infantile [RCV003759404]	likely benign	5	1421960	1421960	Human	1	name
405186668	CV3051417	single nucleotide variant	NM_001044.5(SLC6A3):c.432G>A (p.Thr144=)	Parkinsonism-dystonia, infantile [RCV003760186]	likely benign	5	1432685	1432685	Human	1	name
405188913	CV3062808	single nucleotide variant	NM_001044.5(SLC6A3):c.990C>T (p.Ile330=)	Parkinsonism-dystonia, infantile [RCV003760456]	likely benign	5	1416139	1416139	Human	1	name
405154078	CV3135160	single nucleotide variant	NM_001044.5(SLC6A3):c.810C>G (p.Ala270=)	Parkinsonism-dystonia, infantile [RCV003840272]	likely benign	5	1420686	1420686	Human	1	name
405269710	CV3201813	single nucleotide variant	NM_001044.5(SLC6A3):c.645G>A (p.Glu215=)	SLC6A3-related disorder [RCV003899717]	likely benign	5	1432472	1432472	Human		name , trait , alternate_id
407451921	CV3481052	single nucleotide variant	NM_001044.5(SLC6A3):c.66T>G (p.Asn22Lys)	Inborn genetic diseases [RCV004683848]	uncertain significance	5	1443132	1443132	Human	1	name
407451922	CV3481055	single nucleotide variant	NM_001044.5(SLC6A3):c.32T>C (p.Met11Thr)	Inborn genetic diseases [RCV004683849]	uncertain significance	5	1443166	1443166	Human	1	name
596939930	CV3550687	single nucleotide variant	NM_001044.5(SLC6A3):c.46G>T (p.Ala16Ser)	not provided [RCV004814587]	uncertain significance	5	1443152	1443152	Human		name
597942347	CV3757757	single nucleotide variant	NM_001044.5(SLC6A3):c.819A>T (p.Pro273=)	Parkinsonism-dystonia, infantile [RCV005077755]	likely benign	5	1420677	1420677	Human	1	name
597974518	CV3802197	single nucleotide variant	NM_001044.5(SLC6A3):c.894G>C (p.Leu298=)	Parkinsonism-dystonia, infantile [RCV005143973]	likely benign	5	1420602	1420602	Human	1	name
597927269	CV3836898	single nucleotide variant	NM_001044.5(SLC6A3):c.978C>T (p.Phe326=)	Parkinsonism-dystonia, infantile [RCV005185249]	likely benign	5	1416151	1416151	Human	1	name
597889766	CV3839640	single nucleotide variant	NM_001044.5(SLC6A3):c.831C>T (p.Leu277=)	Parkinsonism-dystonia, infantile [RCV005179532]	likely benign	5	1420665	1420665	Human	1	name
598226247	CV3894357	single nucleotide variant	NM_001044.5(SLC6A3):c.765C>T (p.Leu255=)	not provided [RCV005257600]	likely benign	5	1421903	1421903	Human		name
13484228	CV454673	single nucleotide variant	NM_001044.5(SLC6A3):c.810C>T (p.Ala270=)	Parkinsonism-dystonia, infantile [RCV000530240]\|not provided [RCV001683577]	benign	5	1420686	1420686	Human	1	name
13472430	CV454675	single nucleotide variant	NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)	Classic dopamine transporter deficiency syndrome [RCV000524904]\|Parkinsonism-dystonia, infantile [RCV000857879]\|not provided [RCV001546699]	benign\|likely benign\|conflicting interpretations of pathogenicity	5	1432571	1432571	Human	2	name
13485645	CV454770	single nucleotide variant	NM_001044.5(SLC6A3):c.360C>T (p.Leu120=)	Parkinsonism-dystonia, infantile [RCV001394824]	likely benign	5	1441417	1441417	Human	1	name
13620012	CV521089	single nucleotide variant	NM_001044.5(SLC6A3):c.70G>A (p.Val24Met)	Parkinsonism-dystonia, infantile [RCV000647220]\|Tobacco addiction, susceptibility to [RCV000765818]	uncertain significance	5	1443128	1443128	Human	2	name
13620023	CV521292	single nucleotide variant	NM_001044.5(SLC6A3):c.642C>T (p.Ala214=)	Parkinsonism-dystonia, infantile [RCV000647228]	likely benign	5	1432475	1432475	Human	1	name
13815911	CV564874	single nucleotide variant	NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu)	Inborn genetic diseases [RCV002534451]\|Parkinsonism-dystonia, infantile [RCV000706014]\|not provided [RCV004711293]	likely benign\|uncertain significance	5	1443121	1443121	Human	2	name
13836124	CV587393	single nucleotide variant	NM_001044.5(SLC6A3):c.444C>A (p.Ile148=)	Parkinsonism-dystonia, infantile [RCV001085802]\|not provided [RCV000732130]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	1432673	1432673	Human	1	name
14726125	CV633551	single nucleotide variant	NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro)	Inborn genetic diseases [RCV005278663]\|Parkinsonism-dystonia, infantile [RCV002234333]	uncertain significance	5	1443164	1443164	Human	2	name
15131344	CV683716	single nucleotide variant	NM_001044.5(SLC6A3):c.615C>T (p.Asn205=)	Parkinsonism-dystonia, infantile [RCV001489986]\|not provided [RCV004597911]	likely benign	5	1432502	1432502	Human	1	name
15122904	CV683717	single nucleotide variant	NM_001044.5(SLC6A3):c.456C>T (p.Val152=)	Parkinsonism-dystonia, infantile [RCV000862146]\|SLC6A3-related disorder [RCV003918334]\|not provided [RCV005427317]	likely benign	5	1432661	1432661	Human	2	name , trait , alternate_id
15150255	CV686703	single nucleotide variant	NM_001044.5(SLC6A3):c.606G>A (p.Ser202=)	not provided [RCV000867012]	likely benign	5	1432511	1432511	Human		name
15149119	CV686704	single nucleotide variant	NM_001044.5(SLC6A3):c.498T>C (p.Tyr166=)	Parkinsonism-dystonia, infantile [RCV002536747]	likely benign	5	1432619	1432619	Human	1	name
15142121	CV686705	single nucleotide variant	NM_001044.5(SLC6A3):c.495C>T (p.His165=)	Parkinsonism-dystonia, infantile [RCV000865487]	likely benign	5	1432622	1432622	Human	1	name
15144585	CV686706	single nucleotide variant	NM_001044.5(SLC6A3):c.450G>A (p.Leu150=)	Parkinsonism-dystonia, infantile [RCV001433537]	likely benign	5	1432667	1432667	Human	1	name
15116647	CV691763	single nucleotide variant	NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=)	Parkinsonism-dystonia, infantile [RCV000873365]	likely benign	5	1420674	1420674	Human	1	name
15174354	CV721263	single nucleotide variant	NM_001044.5(SLC6A3):c.969C>T (p.Gly323=)	Parkinsonism-dystonia, infantile [RCV000884116]	likely benign	5	1416160	1416160	Human	1	name
26898352	CV830423	single nucleotide variant	NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile)	Inborn genetic diseases [RCV002551369]\|Parkinsonism-dystonia, infantile [RCV001036884]\|not provided [RCV001788405]	uncertain significance	5	1443165	1443165	Human	2	name
126773242	CV1026432	single nucleotide variant	NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp)	Parkinsonism-dystonia, infantile [RCV001346076]	uncertain significance	5	1443047	1443047	Human	1	name
127236865	CV1072447	single nucleotide variant	NM_001044.5(SLC6A3):c.1107G>A (p.Gly369=)	Parkinsonism-dystonia, infantile [RCV001396981]	likely benign	5	1414740	1414740	Human	1	name
127279297	CV1094043	single nucleotide variant	NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=)	Parkinsonism-dystonia, infantile [RCV001445643]\|SLC6A3-related disorder [RCV003908660]\|Tobacco addiction, susceptibility to [RCV002476761]\|not provided [RCV003438797]	likely benign	5	1403012	1403012	Human	3	name , trait , alternate_id
127254124	CV1094052	single nucleotide variant	NM_001044.5(SLC6A3):c.1479C>T (p.Ile493=)	Parkinsonism-dystonia, infantile [RCV001437146]\|not provided [RCV003433167]	likely benign	5	1409045	1409045	Human	1	name
127337168	CV1115594	single nucleotide variant	NM_001044.5(SLC6A3):c.1359C>T (p.Val453=)	Parkinsonism-dystonia, infantile [RCV001475454]	likely benign	5	1409760	1409760	Human	1	name
127299881	CV1136579	single nucleotide variant	NM_001044.5(SLC6A3):c.1305C>T (p.Ile435=)	Parkinsonism-dystonia, infantile [RCV001498439]	likely benign	5	1409814	1409814	Human	1	name
127335200	CV1136580	single nucleotide variant	NM_001044.5(SLC6A3):c.1110C>T (p.Tyr370=)	Parkinsonism-dystonia, infantile [RCV001491351]	likely benign	5	1414737	1414737	Human	1	name
127330742	CV1136581	single nucleotide variant	NM_001044.5(SLC6A3):c.1068G>A (p.Thr356=)	Parkinsonism-dystonia, infantile [RCV001488314]	likely benign	5	1414779	1414779	Human	1	name
151776838	CV1365714	single nucleotide variant	NM_001044.5(SLC6A3):c.1185G>A (p.Pro395=)	Parkinsonism-dystonia, infantile [RCV001915511]	likely benign\|uncertain significance	5	1411327	1411327	Human	1	name
151826977	CV1426163	deletion	NM_001044.5(SLC6A3):c.684del (p.His228fs)	Parkinsonism-dystonia, infantile [RCV001993328]	pathogenic	5	1421984	1421984	Human		name
151779711	CV1442587	single nucleotide variant	NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu)	Parkinsonism-dystonia, infantile [RCV002009622]\|Tobacco addiction, susceptibility to [RCV002486671]	uncertain significance	5	1443049	1443049	Human	2	name
151792280	CV1490116	single nucleotide variant	NM_001044.5(SLC6A3):c.1806G>A (p.Glu602=)	Parkinsonism-dystonia, infantile [RCV001952160]	likely benign	5	1400948	1400948	Human	1	name
151735162	CV1490757	single nucleotide variant	NM_001044.5(SLC6A3):c.163G>A (p.Val55Met)	Parkinsonism-dystonia, infantile [RCV001967530]\|not provided [RCV005412328]	uncertain significance	5	1443035	1443035	Human	1	name
152154991	CV1520150	single nucleotide variant	NM_001044.5(SLC6A3):c.1350C>T (p.Leu450=)	Parkinsonism-dystonia, infantile [RCV002140060]	likely benign	5	1409769	1409769	Human	1	name
152037147	CV1532293	single nucleotide variant	NM_001044.5(SLC6A3):c.1371C>T (p.Phe457=)	Parkinsonism-dystonia, infantile [RCV002125527]	likely benign	5	1409748	1409748	Human	1	name
152068628	CV1535178	single nucleotide variant	NM_001044.5(SLC6A3):c.1293C>T (p.Ile431=)	Parkinsonism-dystonia, infantile [RCV002091280]	likely benign	5	1409826	1409826	Human	1	name
152032531	CV1546320	single nucleotide variant	NM_001044.5(SLC6A3):c.1602C>T (p.Phe534=)	Parkinsonism-dystonia, infantile [RCV002124764]	benign	5	1403087	1403087	Human	1	name
152155113	CV1556756	single nucleotide variant	NM_001044.5(SLC6A3):c.1771C>T (p.Leu591=)	Parkinsonism-dystonia, infantile [RCV002122314]	likely benign	5	1400983	1400983	Human	1	name
152144462	CV1576428	single nucleotide variant	NM_001044.5(SLC6A3):c.1485G>A (p.Val495=)	Parkinsonism-dystonia, infantile [RCV002101244]	likely benign	5	1409039	1409039	Human	1	name
152081002	CV1589341	single nucleotide variant	NM_001044.5(SLC6A3):c.1197C>G (p.Ala399=)	Parkinsonism-dystonia, infantile [RCV002112749]	likely benign	5	1411315	1411315	Human	1	name
152134296	CV1590396	single nucleotide variant	NM_001044.5(SLC6A3):c.1386C>T (p.Phe462=)	Parkinsonism-dystonia, infantile [RCV002218499]	likely benign	5	1409733	1409733	Human	1	name
152080415	CV1620729	single nucleotide variant	NM_001044.5(SLC6A3):c.1725T>C (p.Tyr575=)	Parkinsonism-dystonia, infantile [RCV002112673]	likely benign	5	1402964	1402964	Human	1	name
152087989	CV1638826	single nucleotide variant	NM_001044.5(SLC6A3):c.1299G>T (p.Gly433=)	Parkinsonism-dystonia, infantile [RCV002150208]	likely benign	5	1409820	1409820	Human	1	name
152029459	CV1653245	single nucleotide variant	NM_001044.5(SLC6A3):c.1347G>T (p.Thr449=)	Parkinsonism-dystonia, infantile [RCV002085810]	likely benign	5	1409772	1409772	Human	1	name
152100256	CV1655427	single nucleotide variant	NM_001044.5(SLC6A3):c.1446G>A (p.Thr482=)	Parkinsonism-dystonia, infantile [RCV002115241]	likely benign	5	1409078	1409078	Human	1	name
156391886	CV1872950	single nucleotide variant	NM_001044.5(SLC6A3):c.1596C>T (p.Leu532=)	Parkinsonism-dystonia, infantile [RCV003051418]	likely benign	5	1406191	1406191	Human	1	name
156393441	CV1876144	single nucleotide variant	NM_001044.5(SLC6A3):c.1266C>T (p.Ser422=)	Parkinsonism-dystonia, infantile [RCV003068295]\|not provided [RCV004711932]	likely benign	5	1411246	1411246	Human	1	name
156416539	CV1901423	single nucleotide variant	NM_001044.5(SLC6A3):c.1083C>G (p.Gly361=)	Parkinsonism-dystonia, infantile [RCV002610227]	likely benign	5	1414764	1414764	Human	1	name
156369057	CV1905020	single nucleotide variant	NM_001044.5(SLC6A3):c.1443C>T (p.Gly481=)	Parkinsonism-dystonia, infantile [RCV002582286]	likely benign\|uncertain significance	5	1409081	1409081	Human	1	name
156392830	CV1924611	single nucleotide variant	NM_001044.5(SLC6A3):c.163G>T (p.Val55Leu)	Parkinsonism-dystonia, infantile [RCV002654548]	uncertain significance	5	1443035	1443035	Human	1	name
156307386	CV1924799	single nucleotide variant	NM_001044.5(SLC6A3):c.1251C>T (p.Thr417=)	Parkinsonism-dystonia, infantile [RCV002629567]	likely benign	5	1411261	1411261	Human	1	name
156376503	CV1930534	single nucleotide variant	NM_001044.5(SLC6A3):c.1419G>A (p.Thr473=)	Parkinsonism-dystonia, infantile [RCV002633879]	likely benign	5	1409105	1409105	Human	1	name
10049237	CV196211	single nucleotide variant	NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)	Classic dopamine transporter deficiency syndrome [RCV000625455]\|Parkinsonism-dystonia, infantile [RCV001521080]\|not provided [RCV001596983]\|not specified [RCV000180550]	benign	5	1411297	1411297	Human	2	name
156047357	CV2068157	single nucleotide variant	NM_001044.5(SLC6A3):c.1548C>T (p.Pro516=)	Parkinsonism-dystonia, infantile [RCV002846314]	likely benign	5	1406239	1406239	Human	1	name
155999650	CV2092130	single nucleotide variant	NM_001044.5(SLC6A3):c.1536C>T (p.Thr512=)	Parkinsonism-dystonia, infantile [RCV002908564]	likely benign	5	1406251	1406251	Human	1	name
155998123	CV2106596	single nucleotide variant	NM_001044.5(SLC6A3):c.1260C>T (p.Ile420=)	Parkinsonism-dystonia, infantile [RCV002947656]	likely benign	5	1411252	1411252	Human	1	name
156370798	CV2109790	single nucleotide variant	NM_001044.5(SLC6A3):c.247G>A (p.Val83Ile)	Parkinsonism-dystonia, infantile [RCV002942304]	uncertain significance	5	1442951	1442951	Human	1	name
156128447	CV2112457	single nucleotide variant	NM_001044.5(SLC6A3):c.1653C>T (p.Tyr551=)	Parkinsonism-dystonia, infantile [RCV002928100]	likely benign	5	1403036	1403036	Human	1	name
156373234	CV2127711	single nucleotide variant	NM_001044.5(SLC6A3):c.1161A>G (p.Pro387=)	Parkinsonism-dystonia, infantile [RCV002942502]	likely benign	5	1411351	1411351	Human	1	name
156075707	CV2141722	single nucleotide variant	NM_001044.5(SLC6A3):c.1674C>T (p.Asn558=)	Parkinsonism-dystonia, infantile [RCV002979083]	likely benign	5	1403015	1403015	Human	1	name
243052088	CV2404280	single nucleotide variant	NM_001044.5(SLC6A3):c.280G>A (p.Gly94Ser)	not provided [RCV003129306]	uncertain significance	5	1442918	1442918	Human		name
243060711	CV2408689	single nucleotide variant	NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)	Classic dopamine transporter deficiency syndrome [RCV003136819]	uncertain significance	5	1442981	1442981	Human	1	name
11637233	CV271919	single nucleotide variant	NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=)	Parkinsonism-dystonia, infantile [RCV000549120]\|not provided [RCV001618497]\|not specified [RCV000282441]	benign	5	1402958	1402958	Human	1	name
405081728	CV2897999	single nucleotide variant	NM_001044.5(SLC6A3):c.1794G>A (p.Glu598=)	Parkinsonism-dystonia, infantile [RCV003595572]	likely benign	5	1400960	1400960	Human	1	name
405066699	CV2924768	single nucleotide variant	NM_001044.5(SLC6A3):c.1812G>A (p.Val604=)	Parkinsonism-dystonia, infantile [RCV003594353]	likely benign	5	1400942	1400942	Human	1	name
405188476	CV3062271	single nucleotide variant	NM_001044.5(SLC6A3):c.1104G>A (p.Leu368=)	Parkinsonism-dystonia, infantile [RCV003760404]	likely benign	5	1414743	1414743	Human	1	name
405190148	CV3077102	single nucleotide variant	NM_001044.5(SLC6A3):c.1776C>G (p.Ala592=)	Parkinsonism-dystonia, infantile [RCV003760609]	likely benign	5	1400978	1400978	Human	1	name
405189227	CV3078735	single nucleotide variant	NM_001044.5(SLC6A3):c.1305C>A (p.Ile435=)	Parkinsonism-dystonia, infantile [RCV003760495]	likely benign	5	1409814	1409814	Human	1	name
405150361	CV3142096	single nucleotide variant	NM_001044.5(SLC6A3):c.1629C>T (p.Phe543=)	Parkinsonism-dystonia, infantile [RCV003840018]	likely benign	5	1403060	1403060	Human	1	name
405069960	CV3145266	single nucleotide variant	NM_001044.5(SLC6A3):c.1698A>G (p.Thr566=)	Parkinsonism-dystonia, infantile [RCV003850851]	likely benign	5	1402991	1402991	Human	1	name
405151244	CV3162927	single nucleotide variant	NM_001044.5(SLC6A3):c.1131G>T (p.Val377=)	Parkinsonism-dystonia, infantile [RCV003856370]	likely benign	5	1414716	1414716	Human	1	name
405152774	CV3163035	single nucleotide variant	NM_001044.5(SLC6A3):c.1554G>A (p.Leu518=)	Parkinsonism-dystonia, infantile [RCV003856478]	likely benign	5	1406233	1406233	Human	1	name
596947547	CV3549105	single nucleotide variant	NM_001044.5(SLC6A3):c.1224C>G (p.Ala408=)	not provided [RCV004811429]	likely benign	5	1411288	1411288	Human		name
597627441	CV3606651	single nucleotide variant	NM_001044.5(SLC6A3):c.179G>A (p.Arg60Gln)	Inborn genetic diseases [RCV004966483]	uncertain significance	5	1443019	1443019	Human	1	name
597924000	CV3748441	single nucleotide variant	NM_001044.5(SLC6A3):c.1047C>T (p.Thr349=)	Parkinsonism-dystonia, infantile [RCV005075088]	likely benign	5	1414800	1414800	Human	1	name
597925279	CV3772653	deletion	NM_001044.5(SLC6A3):c.341del (p.Phe114fs)	Parkinsonism-dystonia, infantile [RCV005115803]	pathogenic	5	1441436	1441436	Human	1	name
597961712	CV3840739	single nucleotide variant	NM_001044.5(SLC6A3):c.1302C>T (p.Leu434=)	Parkinsonism-dystonia, infantile [RCV005193032]	likely benign	5	1409817	1409817	Human	1	name
597905077	CV3856349	single nucleotide variant	NM_001044.5(SLC6A3):c.1102C>T (p.Leu368=)	Parkinsonism-dystonia, infantile [RCV005202577]	likely benign	5	1414745	1414745	Human	1	name
597846458	CV3880643	single nucleotide variant	NM_001044.5(SLC6A3):c.286G>A (p.Gly96Ser)	not provided [RCV005227531]	uncertain significance	5	1442912	1442912	Human		name
617149202	CV4021544	single nucleotide variant	NM_001044.5(SLC6A3):c.1194C>T (p.Ile398=)	not provided [RCV005425513]	likely benign	5	1411318	1411318	Human		name
12893958	CV406650	single nucleotide variant	NM_001044.5(SLC6A3):c.253C>T (p.Arg85Trp)	not provided [RCV000480943]	likely pathogenic	5	1442945	1442945	Human		name
13493424	CV454663	single nucleotide variant	NM_001044.5(SLC6A3):c.1413C>G (p.Val471=)	Parkinsonism-dystonia, infantile [RCV000535671]\|not provided [RCV003431096]	benign	5	1409111	1409111	Human	1	name
13490793	CV454734	single nucleotide variant	NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=)	Parkinsonism-dystonia, infantile [RCV000533768]\|SLC6A3-related disorder [RCV004757246]	benign\|likely benign	5	1414710	1414710	Human	2	name , trait , alternate_id
13492572	CV454743	single nucleotide variant	NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=)	Parkinsonism-dystonia, infantile [RCV001454541]\|SLC6A3-related disorder [RCV004757245]\|not provided [RCV000557546]	likely benign	5	1414767	1414767	Human	2	name , trait , alternate_id
13489585	CV454745	single nucleotide variant	NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=)	Classic dopamine transporter deficiency syndrome [RCV000532991]\|Parkinsonism-dystonia, infantile [RCV000858610]	benign	5	1414812	1414812	Human	2	name
13470737	CV454774	single nucleotide variant	NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys)	Parkinsonism-dystonia, infantile [RCV000546376]	uncertain significance	5	1443084	1443084	Human	1	name
13481491	CV455459	single nucleotide variant	NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=)	Parkinsonism-dystonia, infantile [RCV000528991]\|not provided [RCV001712514]	benign	5	1406260	1406260	Human	1	name
13494453	CV455473	single nucleotide variant	NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=)	Parkinsonism-dystonia, infantile [RCV000558916]\|SLC6A3-related disorder [RCV003915587]\|not provided [RCV001529755]	benign\|likely benign	5	1409721	1409721	Human	2	name , trait , alternate_id
13515808	CV491247	single nucleotide variant	NM_001044.5(SLC6A3):c.170C>T (p.Ala57Val)	not provided [RCV000594747]	uncertain significance	5	1443028	1443028	Human		name
13522697	CV491633	single nucleotide variant	NM_001044.5(SLC6A3):c.143C>G (p.Thr48Ser)	not provided [RCV000592060]	uncertain significance	5	1443055	1443055	Human		name
13518272	CV492024	single nucleotide variant	NM_001044.5(SLC6A3):c.1440C>T (p.Ala480=)	Parkinsonism-dystonia, infantile [RCV002062069]\|not provided [RCV000597205]	likely benign\|uncertain significance	5	1409084	1409084	Human	1	name
13517623	CV492507	single nucleotide variant	NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=)	Parkinsonism-dystonia, infantile [RCV001397024]\|SLC6A3-related disorder [RCV003980100]\|not provided [RCV000596665]	likely benign\|uncertain significance	5	1406272	1406272	Human	2	name , trait , alternate_id
13620022	CV520795	single nucleotide variant	NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=)	Parkinsonism-dystonia, infantile [RCV000647227]	likely benign	5	1403045	1403045	Human	1	name
13620019	CV521063	single nucleotide variant	NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=)	Parkinsonism-dystonia, infantile [RCV001419230]\|SLC6A3-related disorder [RCV003928101]\|not provided [RCV004808824]	likely benign	5	1409823	1409823	Human	2	name , trait , alternate_id
13620009	CV521066	single nucleotide variant	NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=)	Inborn genetic diseases [RCV002530487]\|Parkinsonism-dystonia, infantile [RCV000647218]\|Tobacco addiction, susceptibility to [RCV002507109]\|not provided [RCV003437366]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	1414692	1414692	Human	3	name
13620008	CV521186	single nucleotide variant	NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=)	Parkinsonism-dystonia, infantile [RCV000647217]	likely benign\|uncertain significance	5	1402961	1402961	Human	1	name
13620016	CV521203	single nucleotide variant	NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=)	Parkinsonism-dystonia, infantile [RCV002234687]	likely benign	5	1411264	1411264	Human	1	name
13620017	CV521205	single nucleotide variant	NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=)	Parkinsonism-dystonia, infantile [RCV002234085]\|not provided [RCV001200465]	likely benign	5	1414809	1414809	Human	1	name
13818407	CV564872	single nucleotide variant	NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe)	Parkinsonism-dystonia, infantile [RCV002233571]	uncertain significance	5	1442983	1442983	Human	1	name
14701154	CV633550	single nucleotide variant	NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln)	Inborn genetic diseases [RCV002537212]\|Parkinsonism-dystonia, infantile [RCV002235003]	uncertain significance	5	1443046	1443046	Human	2	name
15116856	CV683709	single nucleotide variant	NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=)	Parkinsonism-dystonia, infantile [RCV000861018]\|not provided [RCV001570789]	benign\|likely benign	5	1402997	1402997	Human	1	name
15121354	CV683710	single nucleotide variant	NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)	Parkinsonism-dystonia, infantile [RCV000861851]\|SLC6A3-related disorder [RCV004757293]\|Tobacco addiction, susceptibility to [RCV002507463]\|not provided [RCV004716619]	benign\|likely benign	5	1409054	1409054	Human	3	name , trait , alternate_id
15123288	CV683711	single nucleotide variant	NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=)	Parkinsonism-dystonia, infantile [RCV000862212]	benign	5	1409763	1409763	Human	1	name
15130099	CV683712	single nucleotide variant	NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=)	Parkinsonism-dystonia, infantile [RCV000863368]\|Tobacco addiction, susceptibility to [RCV002478956]\|not provided [RCV003438507]	likely benign	5	1414704	1414704	Human	2	name
15121817	CV683713	single nucleotide variant	NM_001044.5(SLC6A3):c.1089C>T (p.Val363=)	Parkinsonism-dystonia, infantile [RCV000861937]\|not provided [RCV005256692]	likely benign	5	1414758	1414758	Human	1	name
15120944	CV683714	single nucleotide variant	NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=)	Parkinsonism-dystonia, infantile [RCV000861772]	benign	5	1414761	1414761	Human	1	name
15137921	CV686701	single nucleotide variant	NM_001044.5(SLC6A3):c.1662C>T (p.Pro554=)	SLC6A3-related disorder [RCV003965687]\|not provided [RCV000864748]	likely benign	5	1403027	1403027	Human	1	name , trait , alternate_id
15105240	CV686702	single nucleotide variant	NM_001044.5(SLC6A3):c.1410C>T (p.Tyr470=)	Parkinsonism-dystonia, infantile [RCV000871050]	likely benign	5	1409114	1409114	Human	1	name
15107448	CV691761	single nucleotide variant	NM_001044.5(SLC6A3):c.1335T>G (p.Arg445=)	Parkinsonism-dystonia, infantile [RCV000871510]	likely benign	5	1409784	1409784	Human	1	name
15133403	CV691762	single nucleotide variant	NM_001044.5(SLC6A3):c.1200G>A (p.Thr400=)	Parkinsonism-dystonia, infantile [RCV001442580]	likely benign	5	1411312	1411312	Human	1	name
15185035	CV734876	single nucleotide variant	NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=)	Parkinsonism-dystonia, infantile [RCV001488878]	likely benign	5	1400963	1400963	Human	1	name
15141390	CV749266	single nucleotide variant	NM_001044.5(SLC6A3):c.1747C>T (p.Leu583=)	not provided [RCV000921833]	likely benign	5	1402942	1402942	Human		name
15101577	CV764923	single nucleotide variant	NM_001044.5(SLC6A3):c.1332C>T (p.His444=)	not provided [RCV000936831]	likely benign	5	1409787	1409787	Human		name
15194217	CV764925	single nucleotide variant	NM_001044.5(SLC6A3):c.1050C>T (p.Thr350=)	Parkinsonism-dystonia, infantile [RCV002066124]	likely benign	5	1414797	1414797	Human	1	name
21074862	CV798553	single nucleotide variant	NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)	Classic dopamine transporter deficiency syndrome [RCV000995647]\|Parkinsonism-dystonia, infantile [RCV001858818]	likely pathogenic\|uncertain significance	5	1443020	1443020	Human	2	name
26903556	CV830400	single nucleotide variant	NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=)	Parkinsonism-dystonia, infantile [RCV001070261]	uncertain significance	5	1411243	1411243	Human	1	name
126769579	CV1005928	single nucleotide variant	NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile)	Parkinsonism-dystonia, infantile [RCV001322049]\|Tobacco addiction, susceptibility to [RCV002493682]\|not provided [RCV004727136]	uncertain significance	5	1420598	1420598	Human	2	name
126759145	CV1026431	single nucleotide variant	NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg)	Parkinsonism-dystonia, infantile [RCV001340044]	uncertain significance	5	1441359	1441359	Human	1	name
8643633	CV102922	single nucleotide variant	NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro)	Classic dopamine transporter deficiency syndrome [RCV000083263]	pathogenic	5	1421997	1421997	Human	1	name
126923456	CV1043406	single nucleotide variant	NM_001044.5(SLC6A3):c.625G>A (p.Gly209Arg)	Parkinsonism-dystonia, infantile [RCV001365869]	uncertain significance	5	1432492	1432492	Human	1	name
127250007	CV1094069	single nucleotide variant	NM_001044.5(SLC6A3):c.385G>A (p.Ala129Thr)	Parkinsonism-dystonia, infantile [RCV001436213]	likely benign	5	1441392	1441392	Human	1	name
150339604	CV1167346	deletion	NM_001044.5(SLC6A3):c.1156+200_1156+237del	not provided [RCV001534358]	likely benign	5	1414454	1414491	Human		name
150484377	CV1222478	deletion	NM_001044.5(SLC6A3):c.1599+339_1599+345del	not provided [RCV001617481]	benign	5	1405843	1405849	Human		name
151758270	CV1340507	single nucleotide variant	NM_001044.5(SLC6A3):c.742A>G (p.Ile248Val)	Parkinsonism-dystonia, infantile [RCV001913680]	uncertain significance	5	1421926	1421926	Human	1	name
151891016	CV1346865	single nucleotide variant	NM_001044.5(SLC6A3):c.586G>A (p.Asp196Asn)	Parkinsonism-dystonia, infantile [RCV002038976]	uncertain significance	5	1432531	1432531	Human	1	name
151869048	CV1352909	single nucleotide variant	NM_001044.5(SLC6A3):c.823G>A (p.Val275Met)	Parkinsonism-dystonia, infantile [RCV001906235]	uncertain significance	5	1420673	1420673	Human	1	name
151750812	CV1360907	single nucleotide variant	NM_001044.5(SLC6A3):c.310C>A (p.Leu104Ile)	Parkinsonism-dystonia, infantile [RCV001894312]	uncertain significance	5	1441467	1441467	Human	1	name
151789847	CV1397142	single nucleotide variant	NM_001044.5(SLC6A3):c.569C>T (p.Ser190Leu)	Parkinsonism-dystonia, infantile [RCV001951943]	uncertain significance	5	1432548	1432548	Human	1	name
151852355	CV1397320	single nucleotide variant	NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met)	Classic dopamine transporter deficiency syndrome [RCV003136354]\|Parkinsonism-dystonia, infantile [RCV001958167]\|not provided [RCV003238883]	uncertain significance	5	1432686	1432686	Human	2	name
151807739	CV1417760	single nucleotide variant	NM_001044.5(SLC6A3):c.409A>G (p.Ile137Val)	Parkinsonism-dystonia, infantile [RCV001867712]	uncertain significance	5	1441368	1441368	Human	1	name
151884995	CV1425194	single nucleotide variant	NM_001044.5(SLC6A3):c.923C>T (p.Ala308Val)	Parkinsonism-dystonia, infantile [RCV001887264]	uncertain significance	5	1420573	1420573	Human	1	name
151826758	CV1447267	single nucleotide variant	NM_001044.5(SLC6A3):c.707C>T (p.Pro236Leu)	Parkinsonism-dystonia, infantile [RCV001870136]\|not provided [RCV005421041]	uncertain significance	5	1421961	1421961	Human	1	name
151749320	CV1465293	single nucleotide variant	NM_001044.5(SLC6A3):c.970G>A (p.Val324Met)	Parkinsonism-dystonia, infantile [RCV002043114]	uncertain significance	5	1416159	1416159	Human	1	name
151717170	CV1470835	single nucleotide variant	NM_001044.5(SLC6A3):c.472G>A (p.Val158Ile)	Inborn genetic diseases [RCV004970465]\|Parkinsonism-dystonia, infantile [RCV001909139]	uncertain significance	5	1432645	1432645	Human	2	name
151787471	CV1479093	single nucleotide variant	NM_001044.5(SLC6A3):c.574G>A (p.Ala192Thr)	Parkinsonism-dystonia, infantile [RCV002046765]	uncertain significance	5	1432543	1432543	Human	1	name
151892353	CV1480924	single nucleotide variant	NM_001044.5(SLC6A3):c.895A>G (p.Ser299Gly)	Parkinsonism-dystonia, infantile [RCV001944024]	uncertain significance	5	1420601	1420601	Human	1	name
151892406	CV1481034	single nucleotide variant	NM_001044.5(SLC6A3):c.876C>A (p.Asp292Glu)	Parkinsonism-dystonia, infantile [RCV001944080]	uncertain significance	5	1420620	1420620	Human	1	name
151847216	CV1483952	single nucleotide variant	NM_001044.5(SLC6A3):c.935T>C (p.Ile312Thr)	Parkinsonism-dystonia, infantile [RCV001903595]	uncertain significance	5	1416194	1416194	Human	1	name
151886887	CV1495904	single nucleotide variant	NM_001044.5(SLC6A3):c.594T>G (p.Ser198Arg)	Inborn genetic diseases [RCV002545774]\|Parkinsonism-dystonia, infantile [RCV001887655]\|not provided [RCV004693797]	uncertain significance	5	1432523	1432523	Human	2	name
151724068	CV1500398	single nucleotide variant	NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser)	Parkinsonism-dystonia, infantile [RCV001910117]\|Tobacco addiction, susceptibility to [RCV002490251]	uncertain significance	5	1432537	1432537	Human	2	name
156151563	CV1879013	single nucleotide variant	NM_001044.5(SLC6A3):c.875A>G (p.Asp292Gly)	Parkinsonism-dystonia, infantile [RCV003056551]	uncertain significance	5	1420621	1420621	Human	1	name
156222773	CV1899918	single nucleotide variant	NM_001044.5(SLC6A3):c.625G>T (p.Gly209Trp)	Parkinsonism-dystonia, infantile [RCV003085062]	uncertain significance	5	1432492	1432492	Human	1	name
156367023	CV1908600	single nucleotide variant	NM_001044.5(SLC6A3):c.641C>T (p.Ala214Val)	Parkinsonism-dystonia, infantile [RCV002582134]	uncertain significance	5	1432476	1432476	Human	1	name
156402810	CV2010124	single nucleotide variant	NM_001044.5(SLC6A3):c.886G>A (p.Ala296Thr)	Parkinsonism-dystonia, infantile [RCV002726159]	uncertain significance	5	1420610	1420610	Human	1	name
156012578	CV2035723	single nucleotide variant	NM_001044.5(SLC6A3):c.457G>A (p.Gly153Ser)	Parkinsonism-dystonia, infantile [RCV002795180]	uncertain significance	5	1432660	1432660	Human	1	name
156180735	CV2058579	single nucleotide variant	NM_001044.5(SLC6A3):c.493C>T (p.His165Tyr)	Parkinsonism-dystonia, infantile [RCV002828294]	uncertain significance	5	1432624	1432624	Human	1	name
156091594	CV2106167	single nucleotide variant	NM_001044.5(SLC6A3):c.616G>C (p.Asp206His)	Parkinsonism-dystonia, infantile [RCV002952380]	uncertain significance	5	1432501	1432501	Human	1	name
155976834	CV2136212	single nucleotide variant	NM_001044.5(SLC6A3):c.584G>T (p.Gly195Val)	Inborn genetic diseases [RCV004068353]\|Parkinsonism-dystonia, infantile [RCV002995895]	uncertain significance	5	1432533	1432533	Human	2	name
156090987	CV2155656	single nucleotide variant	NM_001044.5(SLC6A3):c.554A>G (p.Asn185Ser)	Parkinsonism-dystonia, infantile [RCV003020683]	uncertain significance	5	1432563	1432563	Human	1	name
243051556	CV2403927	single nucleotide variant	NM_001044.5(SLC6A3):c.709C>T (p.Arg237Trp)	not provided [RCV003128996]	uncertain significance	5	1421959	1421959	Human		name
401773578	CV2709391	single nucleotide variant	NM_001044.5(SLC6A3):c.563A>G (p.Asn188Ser)	Inborn genetic diseases [RCV003262249]	uncertain significance	5	1432554	1432554	Human	1	name
405173787	CV3012017	single nucleotide variant	NM_001044.5(SLC6A3):c.701G>T (p.Gly234Val)	Parkinsonism-dystonia, infantile [RCV003758515]	uncertain significance	5	1421967	1421967	Human	1	name
405707920	CV3225440	single nucleotide variant	NM_001044.5(SLC6A3):c.655C>T (p.Arg219Cys)	Classic dopamine transporter deficiency syndrome [RCV003990495]	uncertain significance	5	1422013	1422013	Human	1	name
596925407	CV3530467	single nucleotide variant	NM_001044.5(SLC6A3):c.857C>T (p.Thr286Ile)	not provided [RCV004778052]	uncertain significance	5	1420639	1420639	Human		name
12849024	CV363960	single nucleotide variant	NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)	Classic dopamine transporter deficiency syndrome [RCV000647221]\|Parkinsonism-dystonia, infantile [RCV001084900]\|SLC6A3-related disorder [RCV003902467]\|Tobacco addiction, susceptibility to [RCV000765817]\|not provided [RCV000422809]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	1432618	1432618	Human	3	name , trait , alternate_id
13502467	CV454768	single nucleotide variant	NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp)	Inborn genetic diseases [RCV002527901]\|Parkinsonism-dystonia, infantile [RCV002232080]	uncertain significance	5	1432512	1432512	Human	2	name
13620010	CV521295	single nucleotide variant	NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu)	Parkinsonism-dystonia, infantile [RCV002234084]	uncertain significance	5	1432512	1432512	Human	1	name
14740254	CV633546	single nucleotide variant	NM_001044.5(SLC6A3):c.661G>A (p.Val221Met)	Parkinsonism-dystonia, infantile [RCV002234985]	uncertain significance	5	1422007	1422007	Human	1	name
14709478	CV633547	single nucleotide variant	NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val)	Parkinsonism-dystonia, infantile [RCV002234766]	uncertain significance	5	1432669	1432669	Human	1	name
14711302	CV633548	single nucleotide variant	NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln)	Parkinsonism-dystonia, infantile [RCV002233852]	uncertain significance	5	1441401	1441401	Human	1	name
15127525	CV683715	single nucleotide variant	NM_001044.5(SLC6A3):c.710G>A (p.Arg237Gln)	Parkinsonism-dystonia, infantile [RCV002538918]	likely benign	5	1421958	1421958	Human	1	name
25318093	CV805417	duplication	NM_001044.5(SLC6A3):c.1639dup (p.His547fs)	not provided [RCV001008413]	likely pathogenic	5	1403049	1403050	Human		name
26900491	CV830422	single nucleotide variant	NM_001044.5(SLC6A3):c.911G>A (p.Arg304Gln)	Parkinsonism-dystonia, infantile [RCV001051317]\|not provided [RCV005241423]	uncertain significance	5	1420585	1420585	Human	1	name
38486580	CV932754	single nucleotide variant	NM_001044.5(SLC6A3):c.366G>C (p.Gln122His)	Parkinsonism-dystonia, infantile [RCV001208954]	uncertain significance	5	1441411	1441411	Human	1	name
38456741	CV944438	single nucleotide variant	NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala)	Parkinsonism-dystonia, infantile [RCV001228405]	uncertain significance	5	1416132	1416132	Human	1	name
38464567	CV961603	single nucleotide variant	NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro)	Classic dopamine transporter deficiency syndrome [RCV001249653]	uncertain significance	5	1416138	1416138	Human	1	name
38464564	CV961604	single nucleotide variant	NM_001044.5(SLC6A3):c.656G>A (p.Arg219His)	Classic dopamine transporter deficiency syndrome [RCV001249652]	uncertain significance	5	1422012	1422012	Human	1	name
126725418	CV1026407	single nucleotide variant	NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln)	Inborn genetic diseases [RCV002547469]\|Parkinsonism-dystonia, infantile [RCV001348145]\|not provided [RCV004770085]	uncertain significance	5	1402926	1402926	Human	2	name
8643634	CV102923	single nucleotide variant	NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)	Classic dopamine transporter deficiency syndrome [RCV000083264]\|Parkinsonism-dystonia, infantile [RCV001854451]	pathogenic\|likely pathogenic\|uncertain significance	5	1406226	1406226	Human	2	name
150414301	CV1197307	single nucleotide variant	NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly)	Inborn genetic diseases [RCV002570801]\|Parkinsonism-dystonia, infantile [RCV001866057]\|not provided [RCV001574897]	uncertain significance	5	1400949	1400949	Human	2	name
150549496	CV1295280	single nucleotide variant	NM_001044.5(SLC6A3):c.1522A>C (p.Ile508Leu)	not provided [RCV001765180]	uncertain significance	5	1406265	1406265	Human		name
151785295	CV1342679	single nucleotide variant	NM_001044.5(SLC6A3):c.1411G>A (p.Val471Ile)	Parkinsonism-dystonia, infantile [RCV002010121]	uncertain significance	5	1409113	1409113	Human	1	name
151854407	CV1344343	single nucleotide variant	NM_001044.5(SLC6A3):c.1138G>A (p.Gly380Arg)	Parkinsonism-dystonia, infantile [RCV001923213]	uncertain significance	5	1414709	1414709	Human	1	name
151836457	CV1347226	single nucleotide variant	NM_001044.5(SLC6A3):c.1825G>A (p.Val609Met)	Parkinsonism-dystonia, infantile [RCV002031339]	uncertain significance	5	1400929	1400929	Human	1	name
151801131	CV1365877	single nucleotide variant	NM_001044.5(SLC6A3):c.1639C>A (p.His547Asn)	Parkinsonism-dystonia, infantile [RCV001917725]	uncertain significance	5	1403050	1403050	Human	1	name
151878231	CV1370024	single nucleotide variant	NM_001044.5(SLC6A3):c.1305C>G (p.Ile435Met)	Parkinsonism-dystonia, infantile [RCV001961309]	uncertain significance	5	1409814	1409814	Human	1	name
151790187	CV1393041	single nucleotide variant	NM_001044.5(SLC6A3):c.1527G>C (p.Gln509His)	Parkinsonism-dystonia, infantile [RCV001931341]	uncertain significance	5	1406260	1406260	Human	1	name
151781276	CV1426667	single nucleotide variant	NM_001044.5(SLC6A3):c.1459G>A (p.Gly487Arg)	Parkinsonism-dystonia, infantile [RCV002009767]	uncertain significance	5	1409065	1409065	Human	1	name
151667815	CV1448715	single nucleotide variant	NM_001044.5(SLC6A3):c.1042G>C (p.Val348Leu)	Parkinsonism-dystonia, infantile [RCV001963835]\|not provided [RCV004785422]	uncertain significance	5	1414805	1414805	Human	1	name
151776924	CV1449487	single nucleotide variant	NM_001044.5(SLC6A3):c.1364C>T (p.Ala455Val)	Parkinsonism-dystonia, infantile [RCV002009377]	uncertain significance	5	1409755	1409755	Human	1	name
151862645	CV1454200	single nucleotide variant	NM_001044.5(SLC6A3):c.1311G>C (p.Glu437Asp)	Parkinsonism-dystonia, infantile [RCV001938754]	uncertain significance	5	1409808	1409808	Human	1	name
151826741	CV1467327	single nucleotide variant	NM_001044.5(SLC6A3):c.1081G>A (p.Gly361Ser)	Parkinsonism-dystonia, infantile [RCV001901401]	uncertain significance	5	1414766	1414766	Human	1	name
151829105	CV1480090	single nucleotide variant	NM_001044.5(SLC6A3):c.1783A>G (p.Ile595Val)	Parkinsonism-dystonia, infantile [RCV001901624]	uncertain significance	5	1400971	1400971	Human	1	name
151849322	CV1480476	single nucleotide variant	NM_001044.5(SLC6A3):c.1037C>T (p.Ala346Val)	Parkinsonism-dystonia, infantile [RCV001903875]	uncertain significance	5	1414810	1414810	Human	1	name
152124257	CV1563121	indel	NM_001044.5(SLC6A3):c.1600-9_1600-8delinsCT	Parkinsonism-dystonia, infantile [RCV002118238]	likely benign	5	1403097	1403098	Human		name
152154050	CV1643581	single nucleotide variant	NM_001044.5(SLC6A3):c.1844G>A (p.Arg615His)	Parkinsonism-dystonia, infantile [RCV002122163]	likely benign	5	1394754	1394754	Human	1	name
155997487	CV1876030	single nucleotide variant	NM_001044.5(SLC6A3):c.1601T>G (p.Phe534Cys)	Parkinsonism-dystonia, infantile [RCV003076416]	uncertain significance	5	1403088	1403088	Human	1	name
156411412	CV1893174	single nucleotide variant	NM_001044.5(SLC6A3):c.1084T>C (p.Phe362Leu)	Parkinsonism-dystonia, infantile [RCV003072467]	uncertain significance	5	1414763	1414763	Human	1	name
156145259	CV1895073	single nucleotide variant	NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)	Inborn genetic diseases [RCV004673794]\|Parkinsonism-dystonia, infantile [RCV003082356]	uncertain significance	5	1403080	1403080	Human	2	name
156295452	CV1904613	single nucleotide variant	NM_001044.5(SLC6A3):c.1792G>A (p.Glu598Lys)	Parkinsonism-dystonia, infantile [RCV002598928]	uncertain significance	5	1400962	1400962	Human	1	name
156366095	CV1906348	single nucleotide variant	NM_001044.5(SLC6A3):c.1087G>C (p.Val363Leu)	Parkinsonism-dystonia, infantile [RCV003092067]	uncertain significance	5	1414760	1414760	Human	1	name
156417685	CV1909961	single nucleotide variant	NM_001044.5(SLC6A3):c.1379C>G (p.Ser460Cys)	Parkinsonism-dystonia, infantile [RCV002610849]	uncertain significance	5	1409740	1409740	Human	1	name
155940347	CV1913663	single nucleotide variant	NM_001044.5(SLC6A3):c.1090G>A (p.Val364Ile)	Parkinsonism-dystonia, infantile [RCV002615591]	uncertain significance	5	1414757	1414757	Human	1	name
156033225	CV1932504	single nucleotide variant	NM_001044.5(SLC6A3):c.1441G>A (p.Gly481Ser)	Inborn genetic diseases [RCV003162024]\|Parkinsonism-dystonia, infantile [RCV002637257]	uncertain significance	5	1409083	1409083	Human	2	name
156410445	CV1958383	single nucleotide variant	NM_001044.5(SLC6A3):c.1676C>G (p.Ala559Gly)	Parkinsonism-dystonia, infantile [RCV002587155]	uncertain significance	5	1403013	1403013	Human	1	name
155927812	CV2095826	single nucleotide variant	NM_001044.5(SLC6A3):c.1675G>A (p.Ala559Thr)	Parkinsonism-dystonia, infantile [RCV002903662]	uncertain significance	5	1403014	1403014	Human	1	name
156029001	CV2105292	single nucleotide variant	NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)	Inborn genetic diseases [RCV005281259]\|Parkinsonism-dystonia, infantile [RCV002909978]	uncertain significance	5	1402996	1402996	Human	2	name
156015913	CV2114409	single nucleotide variant	NM_001044.5(SLC6A3):c.1619T>C (p.Ile540Thr)	Parkinsonism-dystonia, infantile [RCV002909363]	uncertain significance	5	1403070	1403070	Human	1	name
156117802	CV2115795	single nucleotide variant	NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)	Parkinsonism-dystonia, infantile [RCV002927690]	likely pathogenic	5	1414691	1414691	Human	1	name
156319917	CV2137994	single nucleotide variant	NM_001044.5(SLC6A3):c.1225G>A (p.Val409Met)	Parkinsonism-dystonia, infantile [RCV002963130]	uncertain significance	5	1411287	1411287	Human	1	name
156020399	CV2142692	single nucleotide variant	NM_001044.5(SLC6A3):c.1552C>G (p.Leu518Val)	Parkinsonism-dystonia, infantile [RCV002998644]	uncertain significance	5	1406235	1406235	Human	1	name
156292066	CV2156409	single nucleotide variant	NM_001044.5(SLC6A3):c.1775C>T (p.Ala592Val)	Parkinsonism-dystonia, infantile [RCV003010008]	uncertain significance	5	1400979	1400979	Human	1	name
156120881	CV2174903	single nucleotide variant	NM_001044.5(SLC6A3):c.1633C>T (p.Pro545Ser)	Parkinsonism-dystonia, infantile [RCV003055461]	uncertain significance	5	1403056	1403056	Human	1	name
329377555	CV2462657	single nucleotide variant	NM_001044.5(SLC6A3):c.1681G>A (p.Gly561Ser)	Inborn genetic diseases [RCV003211887]	uncertain significance	5	1403008	1403008	Human	1	name
401742966	CV2697980	single nucleotide variant	NM_001044.5(SLC6A3):c.1828C>T (p.Arg610Cys)	Inborn genetic diseases [RCV003274965]	uncertain significance	5	1400926	1400926	Human	1	name
401759032	CV2705338	single nucleotide variant	NM_001044.5(SLC6A3):c.1800C>A (p.Asp600Glu)	Inborn genetic diseases [RCV003256725]	likely benign	5	1400954	1400954	Human	1	name
401770287	CV2711052	single nucleotide variant	NM_001044.5(SLC6A3):c.1334G>A (p.Arg445His)	Inborn genetic diseases [RCV003261018]	uncertain significance	5	1409785	1409785	Human	1	name
401762710	CV2720039	single nucleotide variant	NM_001044.5(SLC6A3):c.1052C>T (p.Ser351Phe)	Inborn genetic diseases [RCV003300302]	uncertain significance	5	1414795	1414795	Human	1	name
11640293	CV275126	single nucleotide variant	NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)	Classic dopamine transporter deficiency syndrome [RCV001808742]\|Inborn genetic diseases [RCV002522038]\|Parkinsonism-dystonia, infantile [RCV000525246]\|See cases [RCV002252088]\|not provided [RCV000336306]	conflicting interpretations of pathogenicity\|uncertain significance	5	1403013	1403013	Human	3	name
401855651	CV2753069	single nucleotide variant	NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)	Classic dopamine transporter deficiency syndrome [RCV003338124]	uncertain significance	5	1406283	1406283	Human	1	name
401923673	CV2820360	single nucleotide variant	NM_001044.5(SLC6A3):c.1389C>A (p.Cys463Ter)	not provided [RCV003435254]	pathogenic	5	1409730	1409730	Human		name
405062488	CV2910183	single nucleotide variant	NM_001044.5(SLC6A3):c.1111A>C (p.Met371Leu)	Parkinsonism-dystonia, infantile [RCV003593820]	uncertain significance	5	1414736	1414736	Human	1	name
8600316	CV31802	single nucleotide variant	NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)	Classic dopamine transporter deficiency syndrome [RCV000018249]	pathogenic	5	1414744	1414744	Human	1	name
8600317	CV31803	single nucleotide variant	NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)	Classic dopamine transporter deficiency syndrome [RCV000018250]	pathogenic	5	1411328	1411328	Human	1	name
407515580	CV3481053	single nucleotide variant	NM_001044.5(SLC6A3):c.1594C>G (p.Leu532Val)	Inborn genetic diseases [RCV004674981]	uncertain significance	5	1406193	1406193	Human	1	name
407515583	CV3481054	single nucleotide variant	NM_001044.5(SLC6A3):c.1280T>C (p.Met427Thr)	Inborn genetic diseases [RCV004674982]	uncertain significance	5	1409839	1409839	Human	1	name
596927463	CV3532597	single nucleotide variant	NM_001044.5(SLC6A3):c.1858G>A (p.Val620Met)	not provided [RCV004778695]	uncertain significance	5	1394740	1394740	Human		name
596946124	CV3550408	single nucleotide variant	NM_001044.5(SLC6A3):c.1403G>T (p.Gly468Val)	Classic dopamine transporter deficiency syndrome [RCV004818949]	uncertain significance	5	1409121	1409121	Human	1	name
597627438	CV3606650	single nucleotide variant	NM_001044.5(SLC6A3):c.1780G>T (p.Ala594Ser)	Inborn genetic diseases [RCV004966482]	uncertain significance	5	1400974	1400974	Human	1	name
597898641	CV3826656	single nucleotide variant	NM_001044.5(SLC6A3):c.1618A>G (p.Ile540Val)	Parkinsonism-dystonia, infantile [RCV005180789]	uncertain significance	5	1403071	1403071	Human	1	name
598237596	CV3921956	single nucleotide variant	NM_001044.5(SLC6A3):c.1799A>G (p.Asp600Gly)	Inborn genetic diseases [RCV005275684]	uncertain significance	5	1400955	1400955	Human	1	name
598259850	CV3921958	single nucleotide variant	NM_001044.5(SLC6A3):c.1091T>C (p.Val364Ala)	Inborn genetic diseases [RCV005279666]	uncertain significance	5	1414756	1414756	Human	1	name
13464744	CV455167	single nucleotide variant	NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys)	Parkinsonism-dystonia, infantile [RCV002232079]	uncertain significance	5	1394755	1394755	Human	1	name
13469738	CV455202	single nucleotide variant	NM_001044.5(SLC6A3):c.1036G>A (p.Ala346Thr)	Parkinsonism-dystonia, infantile [RCV000545603]	likely benign\|uncertain significance	5	1414811	1414811	Human	1	name
13620006	CV521263	single nucleotide variant	NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile)	Parkinsonism-dystonia, infantile [RCV002235255]	uncertain significance	5	1414760	1414760	Human	1	name
13810030	CV564805	single nucleotide variant	NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn)	Inborn genetic diseases [RCV004026590]\|Parkinsonism-dystonia, infantile [RCV002233378]\|not provided [RCV004723106]	likely benign\|uncertain significance	5	1394741	1394741	Human	2	name
13821104	CV564816	single nucleotide variant	NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met)	Parkinsonism-dystonia, infantile [RCV002233605]	uncertain significance	5	1400916	1400916	Human	1	name
14695771	CV622347	single nucleotide variant	NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)	Classic dopamine transporter deficiency syndrome [RCV000784921]\|Parkinsonism-dystonia, infantile [RCV001221916]	uncertain significance	5	1414780	1414780	Human	2	name
14723247	CV633510	single nucleotide variant	NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln)	Parkinsonism-dystonia, infantile [RCV002234311]	uncertain significance	5	1403048	1403048	Human	1	name
14738284	CV633522	single nucleotide variant	NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr)	Parkinsonism-dystonia, infantile [RCV002235406]	uncertain significance	5	1411296	1411296	Human	1	name
14717069	CV633523	single nucleotide variant	NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg)	Parkinsonism-dystonia, infantile [RCV000795321]\|not provided [RCV002509539]	likely benign\|uncertain significance	5	1414729	1414729	Human	1	name
21069058	CV795633	single nucleotide variant	NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile)	Parkinsonism-dystonia, infantile [RCV001513093]\|not provided [RCV000998352]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	1409729	1409729	Human	1	name
26901137	CV830380	single nucleotide variant	NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met)	Parkinsonism-dystonia, infantile [RCV001056011]\|Tobacco addiction, susceptibility to [RCV002482008]	uncertain significance	5	1403086	1403086	Human	2	name
26901508	CV830401	single nucleotide variant	NM_001044.5(SLC6A3):c.1267G>A (p.Ala423Thr)	Parkinsonism-dystonia, infantile [RCV001058580]	uncertain significance	5	1411245	1411245	Human	1	name
8631468	CV86672	single nucleotide variant	NM_001044.4(SLC6A3):c.1076C>T (p.Ser359Phe)	Malignant melanoma [RCV000066763]	not provided	5	1414771	1414771	Human		name
38478989	CV932739	single nucleotide variant	NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg)	Parkinsonism-dystonia, infantile [RCV001205789]	uncertain significance	5	1402953	1402953	Human	1	name
38488859	CV932740	single nucleotide variant	NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn)	Parkinsonism-dystonia, infantile [RCV001209945]	uncertain significance	5	1403026	1403026	Human	1	name
38498403	CV944424	single nucleotide variant	NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val)	Parkinsonism-dystonia, infantile [RCV001227736]\|not provided [RCV001773517]	uncertain significance	5	1402923	1402923	Human	1	name
38486964	CV944425	single nucleotide variant	NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr)	Parkinsonism-dystonia, infantile [RCV001237376]	uncertain significance	5	1403041	1403041	Human	1	name
38494888	CV954059	single nucleotide variant	NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln)	Parkinsonism-dystonia, infantile [RCV001241600]	uncertain significance	5	1406243	1406243	Human	1	name
126752980	CV990708	single nucleotide variant	NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His)	Parkinsonism-dystonia, infantile [RCV001297821]\|not provided [RCV002508304]	uncertain significance	5	1400925	1400925	Human	1	name
126753279	CV990709	single nucleotide variant	NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys)	Parkinsonism-dystonia, infantile [RCV001307368]	uncertain significance	5	1400937	1400937	Human	1	name
151854064	CV1390729	indel	NM_001044.5(SLC6A3):c.1498+13_1498+14delinsTG	Parkinsonism-dystonia, infantile [RCV001958374]	uncertain significance	5	1409012	1409013	Human		name
408394157	CV3521750	microsatellite	NM_001044.5(SLC6A3):c.1075TCC[1] (p.Ser360del)	Classic dopamine transporter deficiency syndrome [RCV004764549]	uncertain significance	5	1414767	1414769	Human		name
38486581	CV932753	deletion	NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer)	Parkinsonism-dystonia, infantile [RCV001208955]	pathogenic	5	1420604	1420604	Human	1	name
151830976	CV1405526	indel	NM_001044.5(SLC6A3):c.1408_1409delinsAG (p.Tyr470Ser)	Parkinsonism-dystonia, infantile [RCV001901809]	uncertain significance	5	1409115	1409116	Human		name
150493239	CV1281771	insertion	NM_001044.5(SLC6A3):c.1839+98_1839+99insGGCTGGTGTAGACAG	not provided [RCV001716966]	benign	5	1400816	1400817	Human		name
15015241	CV679846	deletion	NM_001044.5(SLC6A3):c.1139_1150del (p.Gly380_Lys384delinsGlu)	Dysphagia [RCV000853400]	uncertain significance	5	1414697	1414708	Human	2	name
329355977	CV2477578	indel	NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)	Classic dopamine transporter deficiency syndrome [RCV003223526]	pathogenic	5	1406195	1406218	Human		name

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