ClinVar for MedGen (Select 1814585) - ClinVar

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Items: 41

	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 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 2585508	NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)	SLC6A3 (G502R)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 2499598	NM_001044.5(SLC6A3):c.792+4A>T	SLC6A3	Single nucleotide variant (intron variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 2499597	NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)	SLC6A3	Indel (nonsense)	Classic dopamine transporter deficiency syndrome	GPathogenic
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 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 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 1444993	NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met)	SLC6A3 (T144M)	Single nucleotide variant (missense variant)	not provided +2 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 1288828	NM_001044.5(SLC6A3):c.*35T>C	SLC6A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1185399	NM_001044.5(SLC6A3):c.1031+71G>T	SLC6A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 1019641	NC_000005.9:g.(?_1394830)_(1394893_?)dup	SLC6A3	Duplication	Classic dopamine transporter deficiency syndrome +1 more	GUncertain significance
Select item 973245	NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro)	SLC6A3 (A331P)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 973244	NM_001044.5(SLC6A3):c.656G>A (p.Arg219His)	SLC6A3 (R219H)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GUncertain significance
Select item 931466	NM_001044.5(SLC6A3):c.1398+5G>A	SLC6A3	Single nucleotide variant (intron variant)	Classic dopamine transporter deficiency syndrome	GLikely pathogenic
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 807497	NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)	SLC6A3 (R60W)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome +1 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 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 634445	NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)	SLC6A3 (T356M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 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 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 522348	NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)	SLC6A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 522347	NM_001044.5(SLC6A3):c.419-12C>A	SLC6A3	Single nucleotide variant (intron variant)	Classic dopamine transporter deficiency syndrome +2 more	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 470641	NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +2 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
Select item 470636	NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +2 more	GBenign/Likely benign
Select item 470627	NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +1 more	GBenign
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 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 199052	NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)	SLC6A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 97018	NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)	SLC6A3 (R521W)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GConflicting classifications of pathogenicity
Select item 97017	NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro)	SLC6A3 (L224P)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GPathogenic
Select item 97016	NM_001044.5(SLC6A3):c.1031+1G>A	SLC6A3	Single nucleotide variant (splice donor variant)	Parkinsonism-dystonia, infantile	GLikely pathogenic
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 16764	NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)	SLC6A3 (P395L)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GPathogenic
Select item 16763	NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)	SLC6A3 (L368Q)	Single nucleotide variant (missense variant)	Classic dopamine transporter deficiency syndrome	GPathogenic

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Items: 41