SLC6A3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920607	NM_001044.5(SLC6A3):c.950_989del	SLC6A3	Deletion (3 prime UTR variant)	Schizophrenia	GUncertain risk allele
Select item 16762	SLC6A3*9	SLC6A3	Microsatellite (3 prime UTR variant)	Nicotine dependence, protection against	Gprotective
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 579182	NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn)	SLC6A3 (K619N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1592119	NM_001044.5(SLC6A3):c.1844G>A (p.Arg615His)	SLC6A3 (R615H)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 470637	NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys)	SLC6A3 (R615C)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 696622	NM_001044.5(SLC6A3):c.1840-7_1840-3dup	SLC6A3	Duplication (intron variant)	not provided	GLikely benign
Select item 1539124	NM_001044.5(SLC6A3):c.1840-8C>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
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 2042437	NM_001044.5(SLC6A3):c.1839+15C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2050068	NM_001044.5(SLC6A3):c.1839+9_1839+14del	SLC6A3	Microsatellite (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 696079	NM_001044.5(SLC6A3):c.1839+9G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GBenign
Select item 1141186	NM_001044.5(SLC6A3):c.1839+8C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 573687	NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met)	SLC6A3 (T613M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
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 2525478	NM_001044.5(SLC6A3):c.1828C>T (p.Arg610Cys)	SLC6A3 (R610C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1523930	NM_001044.5(SLC6A3):c.1825G>A (p.Val609Met)	SLC6A3 (V609M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 1009823	NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys)	SLC6A3 (R606K)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2759715	NM_001044.5(SLC6A3):c.1812G>A (p.Val604=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 1418520	NM_001044.5(SLC6A3):c.1806G>A (p.Glu602=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 1207044	NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly)	SLC6A3 (E602G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2541637	NM_001044.5(SLC6A3):c.1800C>A (p.Asp600Glu)	SLC6A3 (D600E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2733664	NM_001044.5(SLC6A3):c.1794G>A (p.Glu598=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2174541	NM_001044.5(SLC6A3):c.1792G>A (p.Glu598Lys)	SLC6A3 (E598K)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 733172	NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 1404393	NM_001044.5(SLC6A3):c.1783A>G (p.Ile595Val)	SLC6A3 (I595V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2917040	NM_001044.5(SLC6A3):c.1776C>G (p.Ala592=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2093328	NM_001044.5(SLC6A3):c.1775C>T (p.Ala592Val)	SLC6A3 (A592V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 1592710	NM_001044.5(SLC6A3):c.1771C>T (p.Leu591=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 538068	NM_001044.5(SLC6A3):c.1768-7_1768-6del	SLC6A3	Microsatellite (intron variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 1086948	NM_001044.5(SLC6A3):c.1768-7C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2981515	NM_001044.5(SLC6A3):c.1768-12T>C	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
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 1583539	NM_001044.5(SLC6A3):c.1767+19C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2187949	NM_001044.5(SLC6A3):c.1767+16G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2138777	NM_001044.5(SLC6A3):c.1767+15G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2898727	NM_001044.5(SLC6A3):c.1767+14C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
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 1525470	NM_001044.5(SLC6A3):c.1767+2T>C	SLC6A3	Single nucleotide variant (splice donor variant)	Parkinsonism-dystonia, infantile	GLikely pathogenic
Select item 955146	NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val)	SLC6A3 (E589V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1043966	NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln)	SLC6A3 (R588Q)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +1 more	GUncertain significance
Select item 745315	NM_001044.5(SLC6A3):c.1747C>T (p.Leu583=)	SLC6A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936886	NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg)	SLC6A3 (K579R)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	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 538064	NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 1593175	NM_001044.5(SLC6A3):c.1725T>C (p.Tyr575=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2995244	NM_001044.5(SLC6A3):c.1698A>G (p.Thr566=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2055174	NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)	SLC6A3 (A565S)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
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 2483515	NM_001044.5(SLC6A3):c.1681G>A (p.Gly561Ser)	SLC6A3 (G561S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1117070	NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=)	SLC6A3	Single nucleotide variant (synonymous variant)	SLC6A3-related disorder +4 more	GLikely benign
Select item 1906781	NM_001044.5(SLC6A3):c.1676C>G (p.Ala559Gly)	SLC6A3 (A559G)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 290889	NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)	SLC6A3 (A559V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2044401	NM_001044.5(SLC6A3):c.1675G>A (p.Ala559Thr)	SLC6A3 (A559T)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2076050	NM_001044.5(SLC6A3):c.1674C>T (p.Asn558=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 940371	NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn)	SLC6A3 (D555N)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 697722	NM_001044.5(SLC6A3):c.1662C>T (p.Pro554=)	SLC6A3	Single nucleotide variant (synonymous variant)	SLC6A3-related disorder +1 more	GLikely benign
Select item 2054575	NM_001044.5(SLC6A3):c.1653C>T (p.Tyr551=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 963361	NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr)	SLC6A3 (A550T)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 538073	NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 644046	NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln)	SLC6A3 (H547Q)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 817293	NM_001044.5(SLC6A3):c.1639dup (p.His547fs)	SLC6A3 (H547fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1399518	NM_001044.5(SLC6A3):c.1639C>A (p.His547Asn)	SLC6A3 (H547N)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2127365	NM_001044.5(SLC6A3):c.1633C>T (p.Pro545Ser)	SLC6A3 (P545S)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2980860	NM_001044.5(SLC6A3):c.1629C>T (p.Phe543=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2048765	NM_001044.5(SLC6A3):c.1619T>C (p.Ile540Thr)	SLC6A3 (I540T)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2164934	NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)	SLC6A3 (V537M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 851586	NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met)	SLC6A3 (V535M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +2 more	GUncertain significance
Select item 1600893	NM_001044.5(SLC6A3):c.1602C>T (p.Phe534=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GBenign
Select item 2142830	NM_001044.5(SLC6A3):c.1601T>G (p.Phe534Cys)	SLC6A3 (F534C)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 1624282	NM_001044.5(SLC6A3):c.1600-9_1600-8delinsCT	SLC6A3	Indel (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 1544688	NM_001044.5(SLC6A3):c.1600-17G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 1597938	NM_001044.5(SLC6A3):c.1600-18C>T	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
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 1572243	NM_001044.5(SLC6A3):c.1599+13G>A	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 1571368	NM_001044.5(SLC6A3):c.1599+12C>G	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2143257	NM_001044.5(SLC6A3):c.1596C>T (p.Leu532=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2499597	NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)	SLC6A3	Indel (nonsense)	Classic dopamine transporter deficiency syndrome	GPathogenic
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 2996327	NM_001044.5(SLC6A3):c.1554G>A (p.Leu518=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 2079605	NM_001044.5(SLC6A3):c.1552C>G (p.Leu518Val)	SLC6A3 (L518V)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance
Select item 2015359	NM_001044.5(SLC6A3):c.1548C>T (p.Pro516=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile	GLikely benign
Select item 966831	NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln)	SLC6A3 (R515Q)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile	GUncertain significance

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