"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC6A3"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1574364	NM_001044.5(SLC6A3):c.1767+13A>G	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile +2 more	GBenign/Likely benign
Select item 1117070	NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=)	SLC6A3	Single nucleotide variant (synonymous variant)	Tobacco addiction, susceptibility to +3 more	GLikely benign
Select item 851586	NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met)	SLC6A3 (V535M)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome +2 more	GUncertain significance
Select item 695871	NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +3 more	GBenign/Likely benign
Select item 538065	NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=)	SLC6A3	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 696815	NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=)	SLC6A3	Single nucleotide variant (synonymous variant)	Classic dopamine transporter deficiency syndrome +3 more	GLikely benign
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 1408732	NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser)	SLC6A3 (P194S)	Single nucleotide variant (missense variant)	Tobacco addiction, susceptibility to +2 more	GUncertain significance
Select item 377082	NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)	SLC6A3 (L167F)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1507933	NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu)	SLC6A3 (P50L)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +2 more	GUncertain significance
Select item 538067	NM_001044.5(SLC6A3):c.70G>A (p.Val24Met)	SLC6A3 (V24M)	Single nucleotide variant (missense variant)	Tobacco addiction, susceptibility to +2 more	GUncertain significance
Select item 470641	NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +2 more	GBenign/Likely benign