Related gene-specific medical variations for Gene (Select 6531) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362541	NM_001044.5(SLC6A3):c.1075TCC[1] (p.Ser360del)	SLC6A3 (S360del)	Microsatellite	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 3246392	NC_000005.9:g.(?_1432559)_(1443312_?)del	SLC6A3	Deletion	Parkinsonism-dystonia, infantile	GPathogenic
Select item 3065418	NM_001044.5(SLC6A3):c.655C>T (p.Arg219Cys)	SLC6A3 (R219C)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 2436069	NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)	SLC6A3 (V73I)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 1272852	NM_001044.5(SLC6A3):c.1599+267G>T	LOC126807284, 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 931466	NM_001044.5(SLC6A3):c.1398+5G>A	SLC6A3	Single nucleotide variant (intron variant)	Classic dopamine transporter deficiency syndrome	GLikely pathogenic

ClinVar