"GeneDx"[submitter] AND "SLC6A3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 1288474	NM_001044.5(SLC6A3):c.*328G>A	SLC6A3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1181229	NM_001044.5(SLC6A3):c.*314TGCTCCC[1]	SLC6A3	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1259994	NM_001044.5(SLC6A3):c.*250G>C	SLC6A3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1215152	NM_001044.5(SLC6A3):c.*235G>A	SLC6A3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1197770	NM_001044.5(SLC6A3):c.*190C>T	SLC6A3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1244976	NM_001044.5(SLC6A3):c.*36G>A	SLC6A3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1288828	NM_001044.5(SLC6A3):c.*35T>C	SLC6A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 3373408	NM_001044.5(SLC6A3):c.1858G>A (p.Val620Met)	SLC6A3 (V620M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 579182	NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn)	SLC6A3 (K619N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1201383	NM_001044.5(SLC6A3):c.1840-68_1840-49del	SLC6A3	Deletion (intron variant)	not provided	GLikely benign
Select item 1225506	NM_001044.5(SLC6A3):c.1840-204G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212204	NM_001044.5(SLC6A3):c.1840-240G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289545	NM_001044.5(SLC6A3):c.1840-258C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264708	NM_001044.5(SLC6A3):c.1839+280C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207269	NM_001044.5(SLC6A3):c.1839+185G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291957	NM_001044.5(SLC6A3):c.1839+98_1839+99insGGCTGGTGTAGACAG	SLC6A3	Insertion (intron variant)	not provided	GBenign
Select item 1207981	NM_001044.5(SLC6A3):c.1839+26TC[2]	SLC6A3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1001511	NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His)	SLC6A3 (R610H)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GUncertain significance
Select item 1207044	NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly)	SLC6A3 (E602G)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +2 more	GUncertain significance
Select item 1212868	NM_001044.5(SLC6A3):c.1768-76G>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241418	NM_001044.5(SLC6A3):c.1768-279G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200902	NM_001044.5(SLC6A3):c.1767+280C>G	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 955146	NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val)	SLC6A3 (E589V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GUncertain significance
Select item 1043966	NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln)	SLC6A3 (R588Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 287682	NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +2 more	GBenign
Select item 695407	NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +1 more	GBenign/Likely benign
Select item 290889	NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)	SLC6A3 (A559V)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome +4 more	GUncertain significance
Select item 817293	NM_001044.5(SLC6A3):c.1639dup (p.His547fs)	SLC6A3 (H547fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1291990	NM_001044.5(SLC6A3):c.1600-40C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1339638	NM_001044.5(SLC6A3):c.1600-137G>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252990	NM_001044.5(SLC6A3):c.1600-282A>G	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233356	NM_001044.5(SLC6A3):c.1599+339_1599+345del	LOC126807284, SLC6A3	Deletion (intron variant)	not provided	GBenign
Select item 1272852	NM_001044.5(SLC6A3):c.1599+267G>T	LOC126807284, SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 470635	NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +1 more	GBenign
Select item 1305005	NM_001044.5(SLC6A3):c.1522A>C (p.Ile508Leu)	SLC6A3 (I508L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265121	NM_001044.5(SLC6A3):c.1499-95G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202097	NM_001044.5(SLC6A3):c.1499-185C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202919	NM_001044.5(SLC6A3):c.1499-239C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245547	NM_001044.5(SLC6A3):c.1499-260C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286683	NM_001044.5(SLC6A3):c.1498+162T>G	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518359	NM_001044.5(SLC6A3):c.1498+14A>G	SLC6A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1243154	NM_001044.5(SLC6A3):c.1399-242G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187526	NM_001044.5(SLC6A3):c.1399-262G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243989	NM_001044.5(SLC6A3):c.1398+117G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230943	NM_001044.5(SLC6A3):c.1398+95C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 470632	NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=)	SLC6A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 809729	NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile)	SLC6A3 (V464I)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GConflicting classifications of pathogenicity
Select item 1180099	NM_001044.5(SLC6A3):c.1270-21G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232194	NM_001044.5(SLC6A3):c.1270-56A>G	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228810	NM_001044.5(SLC6A3):c.1270-109T>C	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260382	NM_001044.5(SLC6A3):c.1269+115C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180279	NM_001044.5(SLC6A3):c.1269+102T>G	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 29685	NM_001044.5(SLC6A3):c.1269+1G>A	SLC6A3	Single nucleotide variant (splice donor variant)	Classic dopamine transporter deficiency syndrome +2 more	GPathogenic
Select item 199052	NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)	SLC6A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1237531	NM_001044.5(SLC6A3):c.1157-229G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221601	NM_001044.5(SLC6A3):c.1156+305T>C	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206907	NM_001044.5(SLC6A3):c.1156+299T>C	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261142	NM_001044.5(SLC6A3):c.1156+292del	SLC6A3	Deletion (intron variant)	not provided	GBenign
Select item 1194644	NM_001044.5(SLC6A3):c.1156+276C>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196948	NM_001044.5(SLC6A3):c.1156+270G>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244416	NM_001044.5(SLC6A3):c.1156+269C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297836	NM_001044.5(SLC6A3):c.1156+245C>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189976	NM_001044.5(SLC6A3):c.1156+238C>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178140	NM_001044.5(SLC6A3):c.1156+200_1156+237del	SLC6A3	Deletion (intron variant)	not provided	GLikely benign
Select item 1242210	NM_001044.5(SLC6A3):c.1156+231C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199078	NM_001044.5(SLC6A3):c.1156+229C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236372	NM_001044.5(SLC6A3):c.1156+207A>C	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279628	NM_001044.5(SLC6A3):c.1156+194G>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253007	NM_001044.5(SLC6A3):c.1156+55C>G	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276094	NM_001044.5(SLC6A3):c.1156+33C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 641958	NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg)	SLC6A3 (Q373R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 470629	NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +1 more	GLikely benign
Select item 1465890	NM_001044.5(SLC6A3):c.1042G>C (p.Val348Leu)	SLC6A3 (V348L)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GUncertain significance
Select item 1195675	NM_001044.5(SLC6A3):c.1032-111C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210886	NM_001044.5(SLC6A3):c.1032-138C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192864	NM_001044.5(SLC6A3):c.1032-242G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185399	NM_001044.5(SLC6A3):c.1031+71G>T	SLC6A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1247436	NM_001044.5(SLC6A3):c.928-330C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271050	NM_001044.5(SLC6A3):c.927+302A>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271025	NM_001044.5(SLC6A3):c.927+208G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194054	NM_001044.5(SLC6A3):c.927+110G>C	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180983	NM_001044.5(SLC6A3):c.927+96G>C	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1022175	NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile)	SLC6A3 (V300I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3371277	NM_001044.5(SLC6A3):c.857C>T (p.Thr286Ile)	SLC6A3 (T286I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 470642	NM_001044.5(SLC6A3):c.810C>T (p.Ala270=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +1 more	GBenign
Select item 1236747	NM_001044.5(SLC6A3):c.793-76C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283768	NM_001044.5(SLC6A3):c.792+259G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275139	NM_001044.5(SLC6A3):c.792+258C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191668	NM_001044.5(SLC6A3):c.792+223C>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2430420	NM_001044.5(SLC6A3):c.709C>T (p.Arg237Trp)	SLC6A3 (R237W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214896	NM_001044.5(SLC6A3):c.654-60G>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189364	NM_001044.5(SLC6A3):c.654-75C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188343	NM_001044.5(SLC6A3):c.653+39C>A	SLC6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253529	NM_001044.5(SLC6A3):c.653+27C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168484	NM_001044.5(SLC6A3):c.653+13C>T	SLC6A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 470639	NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +2 more	GBenign/Likely benign

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