Unique variants in the SLC6A3 gene

Information The variants shown are described using the NM_001044.4 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.39C>T r.(?) p.(Ser13=) - likely benign g.1443274G>A - SLC6A3(NM_001044.4):c.39C>T (p.S13=) - SLC6A3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.58G>T r.(?) p.(Glu20Ter) - VUS g.1443255C>A g.1443140C>A SLC6A3(NM_001044.4):c.58G>T (p.E20*) - SLC6A3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.59A>T r.(?) p.(Glu20Val) - VUS g.1443254T>A g.1443139T>A SLC6A3(NM_001044.4):c.59A>T (p.E20V) - SLC6A3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.77C>T r.(?) p.(Pro26Leu) - VUS g.1443236G>A g.1443121G>A SLC6A3(NM_001044.4):c.77C>T (p.P26L) - SLC6A3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.114C>T r.(?) p.(Asn38=) - benign, likely benign g.1443199G>A g.1443084G>A SLC6A3(NM_001044.4):c.114C>T (p.N38=) - SLC6A3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.137_145del r.(?) p.(Thr46_Thr48del) - VUS g.1443171_1443179del g.1443056_1443064del SLC6A3(NM_001044.4):c.137_145delCCCTCACCA (p.T46_T48del) - SLC6A3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.150G>T r.(?) p.(Pro50=) - benign g.1443163C>A g.1443048C>A SLC6A3(NM_001044.4):c.150G>T (p.P50=) - SLC6A3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.162C>T r.(?) p.(Pro54=) - benign, likely benign g.1443151G>A g.1443036G>A SLC6A3(NM_001044.4):c.162C>T (p.P54=), SLC6A3(NM_001044.5):c.162C>T (p.P54=) - SLC6A3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.216C>T r.(?) p.(Ser72=) - likely benign g.1443097G>A g.1442982G>A SLC6A3(NM_001044.4):c.216C>T (p.S72=) - SLC6A3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.286+20C>G r.(=) p.(=) - likely benign g.1443007G>C g.1442892G>C SLC6A3(NM_001044.4):c.286+20C>G - SLC6A3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.361G>A r.(?) p.(Gly121Ser) - VUS g.1441531C>T g.1441416C>T SLC6A3(NM_001044.5):c.361G>A (p.G121S) - SLC6A3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 3 c.399del r.(?) p.(Ile134Serfs*5) - pathogenic g.1441493del g.1441378del - - SLC6A3_000007 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
-/. 2 - c.419-12C>A r.(=) p.(=) - benign g.1432825G>T g.1432710G>T SLC6A3(NM_001044.4):c.419-12C>A - SLC6A3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.456C>T r.(?) p.(Val152=) - likely benign g.1432776G>A g.1432661G>A SLC6A3(NM_001044.4):c.456C>T (p.V152=) - SLC6A3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4 c.472G>T r.(?) p.(Val158Phe) - pathogenic g.1432760C>A g.1432645C>A - - SLC6A3_000004 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
-?/. 2 - c.499C>T r.(?) p.(Leu167Phe) - likely benign g.1432733G>A g.1432618G>A SLC6A3(NM_001044.4):c.499C>T (p.L167F, p.(Leu167Phe)) - SLC6A3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 3 - c.546C>T r.(?) p.(Asn182=) - likely benign g.1432686G>A g.1432571G>A SLC6A3(NM_001044.4):c.546C>T (p.N182=), SLC6A3(NM_001044.5):c.546C>T (p.N182=) - SLC6A3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.569C>T r.(?) p.(Ser190Leu) - VUS g.1432663G>A g.1432548G>A SLC6A3(NM_001044.5):c.569C>T (p.S190L) - SLC6A3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.614A>G r.(?) p.(Asn205Ser) - likely benign g.1432618T>C g.1432503T>C SLC6A3(NM_001044.4):c.614A>G (p.N205S) - SLC6A3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.653+13C>T r.(=) p.(=) - benign g.1432566G>A g.1432451G>A SLC6A3(NM_001044.5):c.653+13C>T - SLC6A3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 5 c.671T>C r.(?) p.(Leu224Pro) - pathogenic g.1422112A>G g.1421997A>G - - SLC6A3_000009 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
?/. 1 - c.710G>A r.(?) p.(Arg237Gln) - VUS g.1422073C>T - SLC6A3(NM_001044.4):c.710G>A (p.R237Q) - SLC6A3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.774C>T r.(?) p.(Gly258=) - VUS g.1422009G>A g.1421894G>A SLC6A3(NM_001044.4):c.774C>T (p.G258=) - SLC6A3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.810C>T r.(?) p.(Ala270=) - likely benign g.1420801G>A g.1420686G>A SLC6A3(NM_001044.4):c.810C>T (p.A270=) - SLC6A3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.823G>A r.(?) p.(Val275Met) - VUS g.1420788C>T - SLC6A3(NM_001044.4):c.823G>A (p.V275M) - SLC6A3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.900T>C r.(?) p.(Val300=) - likely benign g.1420711A>G g.1420596A>G SLC6A3(NM_001044.4):c.900T>C (p.V300=) - SLC6A3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.979G>A r.(?) p.(Gly327Arg) - pathogenic g.1416265C>T g.1416150C>T - - SLC6A3_000010 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
-?/. 1 - c.990C>T r.(?) p.(Ile330=) - likely benign g.1416254G>A - SLC6A3(NM_001044.4):c.990C>T (p.I330=) - SLC6A3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7i c.1031+1G>A r.spl p.? - pathogenic g.1416212C>T g.1416097C>T - - SLC6A3_000006 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
-/. 2 - c.1035C>T r.(?) p.(Asp345=) - benign g.1414927G>A g.1414812G>A SLC6A3(NM_001044.4):c.1035C>T (p.D345=), SLC6A3(NM_001044.5):c.1035C>T (p.D345=) - SLC6A3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1038G>A r.(?) p.(Ala346=) - likely benign g.1414924C>T - SLC6A3(NM_001044.4):c.1038G>A (p.A346=) - SLC6A3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1068G>A r.(?) p.(Thr356=) - likely benign g.1414894C>T - SLC6A3(NM_001044.4):c.1068G>A (p.T356=) - SLC6A3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1089C>T r.(?) p.(Val363=) - likely benign g.1414873G>A g.1414758G>A SLC6A3(NM_001044.4):c.1089C>T (p.V363=) - SLC6A3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 8 c.1103T>A r.(?) p.(Leu368Gln) - pathogenic g.1414859A>T g.1414744A>T - - SLC6A3_000001 - PubMed: Kurian 2009 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1137C>T r.(?) p.(Ile379=) - likely benign g.1414825G>A g.1414710G>A SLC6A3(NM_001044.4):c.1137C>T (p.I379=) - SLC6A3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 8 c.1139_1150del r.(?) p.(Gly380_Lys384delinsGlu) - pathogenic (recessive) g.1414812_1414823del g.1414697_1414708del - - SLC6A3_000050 - PubMed: Heidari 2020 - - Germline yes - - - - Ehsan Razmara
-?/. 1 - c.1143C>T r.(?) p.(Asp381=) - likely benign g.1414819G>A g.1414704G>A SLC6A3(NM_001044.4):c.1143C>T (p.D381=) - SLC6A3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1155C>T r.(?) p.(Asp385=) - likely benign g.1414807G>A g.1414692G>A SLC6A3(NM_001044.5):c.1155C>T (p.D385=) - SLC6A3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 8i c.1156+5del r.spl p.? - pathogenic g.1414801del g.1414686del - - SLC6A3_000003 - PubMed: Kurian 2010 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1156+9C>T r.(=) p.(=) - likely benign g.1414797G>A g.1414682G>A SLC6A3(NM_001044.4):c.1156+9C>T - SLC6A3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 9 c.1184C>T r.(?) p.(Pro395Leu) - pathogenic g.1411443G>A g.1411328G>A - - SLC6A3_000002 - PubMed: Kurian 2010 - - Germline - - - - - Derek Lim
-?/. 1 - c.1194C>T r.(?) p.(Ile398=) - likely benign g.1411433G>A g.1411318G>A SLC6A3(NM_001044.5):c.1194C>T (p.I398=) - SLC6A3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.1215A>G r.(?) p.(Ser405=) - benign g.1411412T>C g.1411297T>C SLC6A3(NM_001044.4):c.1215A>G (p.S405=) - SLC6A3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+?/. 1 - c.1269+1G>T r.spl p.? - likely pathogenic g.1411357C>A g.1411242C>A SLC6A3 IVS9+1G>T - SLC6A3_000058 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 0.0% (0/402) - - - LOVD
-?/. 1 - c.1269+12G>A r.(=) p.(=) - likely benign g.1411346C>T - SLC6A3(NM_001044.4):c.1269+12G>A - SLC6A3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 10 c.1315C>T r.(?) p.(Gln439*) - pathogenic g.1409919G>A g.1409804G>A - - SLC6A3_000011 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
-?/. 2 - c.1398C>T r.(?) p.(Asn466=) - likely benign g.1409836G>A g.1409721G>A SLC6A3(NM_001044.4):c.1398C>T (p.N466=), SLC6A3(NM_001044.5):c.1398C>T (p.N466=) - SLC6A3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.1407C>G r.(?) p.(Ile469Met) - VUS g.1409232G>C g.1409117G>C SLC6A3(NM_001044.4):c.1407C>G (p.I469M) - SLC6A3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1413C>G r.(?) p.(Val471=) - likely benign g.1409226G>C - SLC6A3(NM_001044.5):c.1413C>G (p.V471=) - SLC6A3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.1498+14A>G r.(=) p.(=) - benign g.1409127T>C g.1409012T>C SLC6A3(NM_001044.4):c.1498+14A>G, SLC6A3(NM_001044.5):c.1498+14A>G - SLC6A3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 1 11i c.1502_1767+3del r.spl? p.(Gly500Glufs*13) - pathogenic g.1403039_1406405del g.1402924_1406290del - - SLC6A3_000013 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
+/+ 1 12 c.1561C>T r.(?) p.(Arg521Trp) - pathogenic g.1406341G>A g.1406226G>A - - SLC6A3_000008 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
+/+ 1 12 c.1586C>T r.(?) p.(Pro529Leu) - pathogenic g.1406316G>A g.1406201G>A - - SLC6A3_000012 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
-?/. 1 - c.1600-8G>T r.(=) p.(=) - likely benign g.1403212C>A g.1403097C>A SLC6A3(NM_001044.5):c.1600-8G>T - SLC6A3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 13 c.1661C>T r.(?) p.(Pro554Leu) - pathogenic g.1403143G>A g.1403028G>A - - SLC6A3_000005 - PubMed: Kurian 2010 - - Germline - - - - - Esther Meyer
?/., ?/? 2 13 c.1676C>T r.(?) p.(Ala559Val) - VUS g.1403128G>A g.1403013G>A SLC6A3(NM_001044.4):c.1676C>T (p.A559V) - SLC6A3_000014 heterozygous, VKGL data sharing initiative Nederland PubMed: Mazei-Robison 2005 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Esther Meyer
-/. 1 - c.1731C>T r.(?) p.(Ala577=) - benign g.1403073G>A g.1402958G>A SLC6A3(NM_001044.4):c.1731C>T (p.A577=) - SLC6A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1763G>A r.(?) p.(Arg588Gln) - likely benign g.1403041C>T g.1402926C>T SLC6A3(NM_001044.4):c.1763G>A (p.R588Q) - SLC6A3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1767+13A>G r.(=) p.(=) - likely benign g.1403024T>C g.1402909T>C SLC6A3(NM_001044.5):c.1767+13A>G - SLC6A3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1840-4C>A r.spl? p.? - likely benign g.1394877G>T g.1394762G>T SLC6A3(NM_001044.4):c.1840-4C>A - SLC6A3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1844G>A r.(?) p.(Arg615His) - likely benign g.1394869C>T - SLC6A3(NM_001044.4):c.1844G>A (p.R615H) - SLC6A3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1857G>C r.(?) p.(Lys619Asn) - VUS g.1394856C>G g.1394741C>G SLC6A3(NM_001044.4):c.1857G>C (p.K619N) - SLC6A3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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