SLC6A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1205420	NM_003042.4(SLC6A1):c.472-170T>C	SLC6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197340	NM_003042.4(SLC6A1):c.472-85T>C	SLC6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020517	NM_003042.4(SLC6A1):c.472-10_472-9del	SLC6A1	Microsatellite (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1698188	NM_003042.4(SLC6A1):c.472-11T>A	SLC6A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2131675	NM_003042.4(SLC6A1):c.472-10G>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2760743	NM_003042.4(SLC6A1):c.472-8C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 796086	NM_003042.4(SLC6A1):c.472-5T>C	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 933379	NM_003042.4(SLC6A1):c.472-1G>C	SLC6A1	Single nucleotide variant (splice acceptor variant)	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 542208	NM_003042.4(SLC6A1):c.474A>C (p.Thr158=)	SLC6A1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-astatic epilepsy	GLikely benign
Select item 1723784	NM_003042.4(SLC6A1):c.479C>G (p.Pro160Arg)	SLC6A1 (P160R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967088	NM_003042.4(SLC6A1):c.480G>A (p.Pro160=)	SLC6A1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 475483	NM_003042.4(SLC6A1):c.480G>T (p.Pro160=)	SLC6A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2747477	NM_003042.4(SLC6A1):c.492C>A (p.Cys164Ter)	SLC6A1 (C164* +1 more)	Single nucleotide variant (nonsense +1 more)	Myoclonic-atonic epilepsy	GPathogenic
Select item 587873	NM_003042.4(SLC6A1):c.492C>T (p.Cys164=)	SLC6A1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 475484	NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn)	SLC6A1 (D165N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2498922	NM_003042.4(SLC6A1):c.498C>G (p.Asn166Lys)	SLC6A1 (N166K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2838834	NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)	SLC6A1 (W48R +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2094177	NM_003042.4(SLC6A1):c.502del (p.Trp168fs)	SLC6A1 (W168fs +1 more)	Deletion (frameshift variant +1 more)	Myoclonic-atonic epilepsy	GPathogenic
Select item 2770702	NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)	SLC6A1 (N169I +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 422255	NM_003042.4(SLC6A1):c.509_510del (p.Thr170fs)	SLC6A1 (T50fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1091626	NM_003042.4(SLC6A1):c.514C>T (p.Arg172Cys)	SLC6A1 (R172C +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2819425	NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)	SLC6A1 (R172H +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 813790	NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)	SLC6A1 (C173Y +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 2003378	NM_003042.4(SLC6A1):c.521T>C (p.Phe174Ser)	SLC6A1 (F174S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 661842	NM_003042.4(SLC6A1):c.523_524insA (p.Ser175fs)	SLC6A1 (S175fs +1 more)	Insertion (frameshift variant +1 more)	Myoclonic-astatic epilepsy	GPathogenic
Select item 2444051	NM_003042.4(SLC6A1):c.527A>G (p.Asn176Ser)	SLC6A1 (N176S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 2254543	NM_003042.4(SLC6A1):c.531C>G (p.Tyr177Ter)	SLC6A1 (Y177* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 1054920	NM_003042.4(SLC6A1):c.535A>T (p.Met179Leu)	SLC6A1 (M179L +2 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 475486	NM_003042.4(SLC6A1):c.535A>G (p.Met179Val)	SLC6A1 (M179V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1720618	NM_003042.4(SLC6A1):c.538G>A (p.Val180Ile)	SLC6A1 (V180I +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GBenign
Select item 1598655	NM_003042.4(SLC6A1):c.538G>T (p.Val180Phe)	SLC6A1 (V180F +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GBenign
Select item 1643639	NM_003042.4(SLC6A1):c.539T>G (p.Val180Gly)	SLC6A1 (V180G +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GBenign
Select item 1747531	NM_003042.4(SLC6A1):c.543C>A (p.Asn181Lys)	SLC6A1 (N181K +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1747586	NM_003042.4(SLC6A1):c.544A>G (p.Thr182Ala)	SLC6A1 (T62A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1425205	NM_003042.4(SLC6A1):c.546T>G (p.Thr182=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-astatic epilepsy	GLikely benign
Select item 2141112	NM_003042.4(SLC6A1):c.548C>T (p.Thr183Ile)	SLC6A1 (T63I +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2758911	NM_003042.4(SLC6A1):c.549C>T (p.Thr183=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1748177	NM_003042.4(SLC6A1):c.553A>C (p.Met185Leu)	SLC6A1 (M185L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 949443	NM_003042.4(SLC6A1):c.553A>G (p.Met185Val)	SLC6A1 (M185V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2627857	NM_003042.4(SLC6A1):c.559A>G (p.Ser187Gly)	SLC6A1 (S187G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 475487	NM_003042.4(SLC6A1):c.561C>T (p.Ser187=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1074164	NM_003042.4(SLC6A1):c.566del (p.Val189fs)	SLC6A1 (V11fs +2 more)	Deletion (frameshift variant)	Myoclonic-astatic epilepsy	GPathogenic
Select item 2905789	NM_003042.4(SLC6A1):c.570G>A (p.Val190=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1355696	NM_003042.4(SLC6A1):c.576C>A (p.Phe192Leu)	SLC6A1 (F14L +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 933706	NM_003042.4(SLC6A1):c.578G>T (p.Trp193Leu)	SLC6A1 (W15L +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2008871	NM_003042.4(SLC6A1):c.581+1G>C	SLC6A1	Single nucleotide variant (splice donor variant)	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 1463709	NM_003042.4(SLC6A1):c.581+3G>A	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 654621	NM_003042.4(SLC6A1):c.581+3G>C	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 1548808	NM_003042.4(SLC6A1):c.581+18A>C	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1186957	NM_003042.4(SLC6A1):c.581+33C>T	SLC6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272705	NM_003042.4(SLC6A1):c.581+54C>T	SLC6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277867	NM_003042.4(SLC6A1):c.582-159G>A	SLC6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554749	NM_003042.4(SLC6A1):c.582-9_582-6del	SLC6A1	Deletion (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1589749	NM_003042.4(SLC6A1):c.582-10G>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1108640	NM_003042.4(SLC6A1):c.582-10G>C	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-astatic epilepsy	GLikely benign
Select item 748512	NM_003042.4(SLC6A1):c.582-7T>G	SLC6A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 589519	NM_003042.4(SLC6A1):c.582-3C>T	SLC6A1	Single nucleotide variant (intron variant)	Myoclonic-atonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1182553	NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)	SLC6A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1327407	NM_003042.4(SLC6A1):c.583C>T (p.Arg195Cys)	SLC6A1 (R17C +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1297000	NM_003042.4(SLC6A1):c.583C>A (p.Arg195Ser)	SLC6A1 (R17S +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 659564	NM_003042.4(SLC6A1):c.584G>A (p.Arg195His)	SLC6A1 (R17H +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GBenign
Select item 745228	NM_003042.4(SLC6A1):c.585C>T (p.Arg195=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1371942	NM_003042.4(SLC6A1):c.589A>G (p.Met197Val)	SLC6A1 (M19V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2446040	NM_003042.4(SLC6A1):c.593A>C (p.His198Pro)	SLC6A1 (H198P +2 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1699282	NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)	SLC6A1 (H198R +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 624207	NM_003042.4(SLC6A1):c.595C>T (p.Gln199Ter)	SLC6A1 (Q199* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 624208	NM_003042.4(SLC6A1):c.596A>G (p.Gln199Arg)	SLC6A1 (Q199R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051319	NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)	SLC6A1 (T23M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 773979	NM_003042.4(SLC6A1):c.603G>A (p.Thr201=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2899294	NM_003042.4(SLC6A1):c.606C>T (p.Asp202=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2803598	NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)	SLC6A1 (D24E +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 1165197	NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)	SLC6A1 (D202E +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 844522	NM_003042.4(SLC6A1):c.616A>G (p.Lys206Glu)	SLC6A1 (K28E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 795455	NM_003042.4(SLC6A1):c.618G>A (p.Lys206=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-astatic epilepsy	GLikely benign
Select item 976262	NM_003042.4(SLC6A1):c.622G>C (p.Gly208Arg)	SLC6A1 (G208R +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 392463	NM_003042.4(SLC6A1):c.625C>A (p.Gln209Lys)	SLC6A1 (Q209K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714623	NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)	SLC6A1 (R211C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 475488	NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)	SLC6A1 (L36fs +2 more)	Deletion (frameshift variant)	Myoclonic-astatic epilepsy +3 more	GPathogenic
Select item 3165351	NM_003042.4(SLC6A1):c.632G>A (p.Arg211His)	SLC6A1 (R211H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1073686	NM_003042.4(SLC6A1):c.643_661dup (p.Ala221fs)	SLC6A1 (A101fs +2 more)	Duplication (frameshift variant)	Myoclonic-atonic epilepsy	GPathogenic
Select item 872484	NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met)	SLC6A1 (T39M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 475489	NM_003042.4(SLC6A1):c.651G>A (p.Thr217=)	SLC6A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 448418	NM_003042.4(SLC6A1):c.651G>T (p.Thr217=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy +2 more	GBenign
Select item 2810372	NM_003042.4(SLC6A1):c.658_663del (p.Ile220_Ala221del)	SLC6A1	Deletion (inframe_deletion)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 573328	NM_003042.4(SLC6A1):c.658A>G (p.Ile220Val)	SLC6A1 (I220V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 833876	NM_003042.4(SLC6A1):c.660C>A (p.Ile220=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy +2 more	GBenign/Likely benign
Select item 795247	NM_003042.4(SLC6A1):c.660C>T (p.Ile220=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2653529	NM_003042.4(SLC6A1):c.668T>A (p.Ile223Asn)	SLC6A1 (I103N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176147	NM_003042.4(SLC6A1):c.673G>C (p.Val225Leu)	SLC6A1 (V105L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2744889	NM_003042.4(SLC6A1):c.676T>C (p.Tyr226His)	SLC6A1 (Y226H +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2311037	NM_003042.4(SLC6A1):c.684_689del (p.Cys228_Ile229del)	SLC6A1	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 1539061	NM_003042.4(SLC6A1):c.684T>C (p.Cys228=)	SLC6A1	Single nucleotide variant (synonymous variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2096688	NM_003042.4(SLC6A1):c.689G>A (p.Trp230Ter)	SLC6A1 (W230* +2 more)	Single nucleotide variant (nonsense)	Myoclonic-atonic epilepsy	GPathogenic
Select item 1172626	NM_003042.4(SLC6A1):c.690G>A (p.Trp230Ter)	SLC6A1 (W110* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 2635494	NM_003042.4(SLC6A1):c.695_696delinsTG (p.Gly232Val)	SLC6A1 (G112V +2 more)	Indel (missense variant)	SLC6A1-Related Disorder	GLikely pathogenic
Select item 978897	NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val)	SLC6A1 (G112V +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 3032781	NM_003042.4(SLC6A1):c.696T>G (p.Gly232=)	SLC6A1	Single nucleotide variant (synonymous variant)	SLC6A1-Related Disorder	GLikely benign
Select item 1478256	NM_003042.4(SLC6A1):c.700G>A (p.Gly234Ser)	SLC6A1 (G234S +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1756837	NM_003042.4(SLC6A1):c.703T>C (p.Trp235Arg)	SLC6A1 (W115R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 938589	NM_003042.4(SLC6A1):c.704G>A (p.Trp235Ter)	SLC6A1 (W235* +2 more)	Single nucleotide variant (nonsense)	Myoclonic-atonic epilepsy	GPathogenic

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