SLC6A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC132089229, LOC132089231 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993638, LOC129993639 +559 more	Copy number loss	See cases	GPathogenic
Select item 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	AHRR, BRD9 +139 more	Copy number gain	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	LOC129993741, LOC129993742 +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	MIR4636, MIR4637 +478 more	Copy number loss	See cases	GPathogenic
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	LOC132089303, LOC132090719 +172 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC128772264, LOC129389254 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	RETREG1-AS1, ROPN1L +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	MIR4458HG, MIR4635 +556 more	Copy number loss	See cases	GPathogenic
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC129993539, LOC129993540 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	LOC129993673, LOC129993674 +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LINC02213, LINC02220 +462 more	Copy number gain	See cases	GPathogenic
Select item 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	LOC123493263, LOC123493264 +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993669, LOC129993670 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993681, LOC129993682 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	LOC129993650, LOC129993651 +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993700, LOC129993701 +521 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	LOC129993547, LOC129993548 +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	LOC132089251, LOC132089252 +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LOC126807356, LOC128772262 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	LOC129993625, LOC129993626 +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	PDCD6-AHRR, PDCD6-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 146682	GRCh38/hg38 5p15.33(chr5:924086-1544344)x3	CLPTM1L, LINC01511 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150830	GRCh38/hg38 5p15.33(chr5:965217-1528677)x3	CLPTM1L, LINC01511 +33 more	Copy number gain	See cases	GLikely benign
Select item 155094	GRCh38/hg38 5p15.33(chr5:1285489-1400393)x3	CLPTM1L, LINC01511 +12 more	Copy number gain	See cases	GUncertain significance
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)	Parkinsonism-dystonia, infantile	GLikely benign
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)	not provided +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

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