C5700336[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518359	NM_001044.5(SLC6A3):c.1498+14A>G	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile +2 more	GBenign
Select item 199052	NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +3 more	GBenign
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
Select item 522347	NM_001044.5(SLC6A3):c.419-12C>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile +2 more	GBenign
Select item 470636	NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)	SLC6A3	Single nucleotide variant (synonymous variant)	Classic dopamine transporter deficiency syndrome +2 more	GBenign/Likely benign
Select item 522348	NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +2 more	GBenign

ClinVar