Slc6a1 Variant Search Result - Rat Genome Database

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1003 records found for search term Slc6a1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
13706302	CV537418	single nucleotide variant	NM_003042.4(SLC6A1):c.-5G>A	Inborn genetic diseases [RCV002317910]\|SLC6A1-related disorder [RCV004533443]\|not provided [RCV000658954]	likely benign	3	11017207	11017207	Human	2	name , alternate_id
150479119	CV1207783	single nucleotide variant	NM_003042.4(SLC6A1):c.-17C>T	not provided [RCV001590059]	likely benign	3	11017195	11017195	Human		name
408386013	CV3415490	single nucleotide variant	NM_003042.4(SLC6A1):c.-93G>A	Epilepsy with myoclonic atonic seizures [RCV005059599]	likely pathogenic	3	11017119	11017119	Human	2	name
150498150	CV1236477	single nucleotide variant	NM_003042.4(SLC6A1):c.-204G>A	not provided [RCV001656202]	benign	3	11015683	11015683	Human		name
401922117	CV2819913	single nucleotide variant	NM_003042.4(SLC6A1):c.*590G>C	not provided [RCV003433442]	benign	3	11037556	11037556	Human		name
407428914	CV3414077	single nucleotide variant	NM_003042.4(SLC6A1):c.*604C>T	not specified [RCV004594015]	benign	3	11037570	11037570	Human		name
14691374	CV622007	deletion	NM_003042.3(SLC6A1):c.1328del	not provided [RCV000782096]	pathogenic	3	11031176	11031176	Human		name
127245313	CV1055281	deletion	NM_003042.4(SLC6A1):c.370+2del	Epilepsy with myoclonic atonic seizures [RCV005057347]	likely pathogenic	3	11017976	11017976	Human	2	name
127238084	CV1070166	single nucleotide variant	NM_003042.4(SLC6A1):c.715-7C>T	Epilepsy with myoclonic atonic seizures [RCV005057364]	likely benign	3	11025442	11025442	Human	2	name
127268404	CV1091915	single nucleotide variant	NM_003042.4(SLC6A1):c.371-5C>T	Epilepsy with myoclonic atonic seizures [RCV005057392]\|Inborn genetic diseases [RCV002555524]	likely benign\|uncertain significance	3	11018593	11018593	Human	3	name
127317796	CV1113408	single nucleotide variant	NM_003042.4(SLC6A1):c.238+7G>A	Epilepsy with myoclonic atonic seizures [RCV005057420]	likely benign	3	11017456	11017456	Human	2	name
151877156	CV1342065	single nucleotide variant	NM_003042.4(SLC6A1):c.581+3G>A	Epilepsy with myoclonic atonic seizures [RCV005057845]	uncertain significance	3	11020325	11020325	Human	2	name
151758664	CV1391739	single nucleotide variant	NM_003042.4(SLC6A1):c.471+5G>A	Epilepsy with myoclonic atonic seizures [RCV005057683]	uncertain significance	3	11018703	11018703	Human	2	name
151752776	CV1407202	single nucleotide variant	NM_003042.4(SLC6A1):c.850-1G>A	Epilepsy with myoclonic atonic seizures [RCV005057930]	pathogenic\|likely pathogenic	3	11025772	11025772	Human	2	name
152149575	CV1535894	single nucleotide variant	NM_003042.4(SLC6A1):c.238+9T>C	Epilepsy with myoclonic atonic seizures [RCV003445041]	likely benign	3	11017458	11017458	Human	2	name
152111502	CV1537175	single nucleotide variant	NM_003042.4(SLC6A1):c.850-5T>C	Epilepsy with myoclonic atonic seizures [RCV005058014]	likely benign	3	11025768	11025768	Human	2	name
152151562	CV1550317	single nucleotide variant	NM_003042.4(SLC6A1):c.953+9G>A	Epilepsy with myoclonic atonic seizures [RCV005057994]\|SLC6A1-related disorder [RCV004729064]	likely benign	3	11025885	11025885	Human	2	name , alternate_id
152155654	CV1572900	single nucleotide variant	NM_003042.4(SLC6A1):c.849+8C>A	Epilepsy with myoclonic atonic seizures [RCV005057980]	likely benign	3	11025591	11025591	Human	2	name
152026992	CV1626719	single nucleotide variant	NM_003042.4(SLC6A1):c.239-6C>T	Epilepsy with myoclonic atonic seizures [RCV005057995]	likely benign	3	11017837	11017837	Human	2	name
156222847	CV1879410	single nucleotide variant	NM_003042.4(SLC6A1):c.954-9T>A	Epilepsy with myoclonic atonic seizures [RCV003444347]	likely benign	3	11026226	11026226	Human	2	name
156324472	CV2032286	single nucleotide variant	NM_003042.4(SLC6A1):c.954-6C>G	Epilepsy with myoclonic atonic seizures [RCV005059010]	likely benign	3	11026229	11026229	Human	2	name
156201063	CV2062944	single nucleotide variant	NM_003042.4(SLC6A1):c.581+1G>C	Epilepsy with myoclonic atonic seizures [RCV005059055]	pathogenic\|likely pathogenic	3	11020323	11020323	Human	2	name
155944533	CV2072499	single nucleotide variant	NM_003042.4(SLC6A1):c.715-4C>A	Epilepsy with myoclonic atonic seizures [RCV005059062]	uncertain significance	3	11025445	11025445	Human	2	name
156013825	CV2076447	single nucleotide variant	NM_003042.4(SLC6A1):c.714+2T>G	Epilepsy with myoclonic atonic seizures [RCV005059064]	pathogenic\|likely pathogenic	3	11022470	11022470	Human	2	name
155982668	CV2101026	single nucleotide variant	NM_003042.4(SLC6A1):c.370+2T>C	Epilepsy with myoclonic atonic seizures [RCV005059070]	likely pathogenic	3	11017976	11017976	Human	2	name
155987968	CV2159882	single nucleotide variant	NM_003042.4(SLC6A1):c.850-7C>T	Epilepsy with myoclonic atonic seizures [RCV005059120]	likely benign	3	11025766	11025766	Human	2	name
401726482	CV2736129	single nucleotide variant	NM_003042.4(SLC6A1):c.850-3T>G	not provided [RCV003312576]	uncertain significance	3	11025770	11025770	Human		name
405083891	CV2855223	single nucleotide variant	NM_003042.4(SLC6A1):c.371-5C>G	Epilepsy with myoclonic atonic seizures [RCV005063000]	likely benign	3	11018593	11018593	Human	2	name
405087406	CV2882817	single nucleotide variant	NM_003042.4(SLC6A1):c.954-8C>G	Epilepsy with myoclonic atonic seizures [RCV005063017]	likely benign	3	11026227	11026227	Human	2	name
405091667	CV2921922	single nucleotide variant	NM_003042.4(SLC6A1):c.472-8C>T	Epilepsy with myoclonic atonic seizures [RCV005063046]	likely benign	3	11020205	11020205	Human	2	name
405069387	CV3052936	single nucleotide variant	NM_003042.4(SLC6A1):c.471+8G>T	Epilepsy with myoclonic atonic seizures [RCV005063131]	likely benign	3	11018706	11018706	Human	2	name
597832299	CV3817204	single nucleotide variant	NM_003042.4(SLC6A1):c.238+8C>T	Epilepsy with myoclonic atonic seizures [RCV005208489]	likely benign	3	11017457	11017457	Human	2	name
597832131	CV3850583	single nucleotide variant	NM_003042.4(SLC6A1):c.238+5G>A	Epilepsy with myoclonic atonic seizures [RCV005208514]\|not provided [RCV005426440]	uncertain significance	3	11017454	11017454	Human	2	name
598220738	CV3891843	single nucleotide variant	NM_003042.4(SLC6A1):c.715-2A>G	Epilepsy with myoclonic atonic seizures [RCV005253181]	likely pathogenic	3	11025447	11025447	Human	2	name
598243051	CV3894736	single nucleotide variant	NM_003042.4(SLC6A1):c.954-1G>A	Developmental and epileptic encephalopathy 94 [RCV005257942]	pathogenic	3	11026234	11026234	Human	1	name
598259513	CV3911512	single nucleotide variant	NM_003042.4(SLC6A1):c.471+3G>A	Inborn genetic diseases [RCV005279597]	uncertain significance	3	11018701	11018701	Human	1	name
13472298	CV451618	single nucleotide variant	NM_003042.4(SLC6A1):c.371-8G>A	Epilepsy with myoclonic atonic seizures [RCV005056174]	likely benign	3	11018590	11018590	Human	2	name
13479645	CV451913	single nucleotide variant	NM_003042.4(SLC6A1):c.471+6T>C	Epilepsy with myoclonic atonic seizures [RCV005056177]\|not provided [RCV001613371]	benign	3	11018704	11018704	Human	2	name
13532699	CV511440	single nucleotide variant	NM_003042.4(SLC6A1):c.850-2A>G	Inborn genetic diseases [RCV000624451]	pathogenic	3	11025771	11025771	Human	1	name
13624759	CV518760	single nucleotide variant	NM_003042.4(SLC6A1):c.715-8C>T	Epilepsy with myoclonic atonic seizures [RCV005056383]\|not provided [RCV001584507]	benign\|likely benign	3	11025441	11025441	Human	2	name
13624764	CV518963	single nucleotide variant	NM_003042.4(SLC6A1):c.371-9C>T	Epilepsy with myoclonic atonic seizures [RCV005056379]	likely benign	3	11018589	11018589	Human	2	name
13808939	CV561094	single nucleotide variant	NM_003042.4(SLC6A1):c.471+1G>T	Epilepsy with myoclonic atonic seizures [RCV005056430]	likely pathogenic	3	11018699	11018699	Human	2	name
13821090	CV561098	single nucleotide variant	NM_003042.4(SLC6A1):c.850-4A>G	Epilepsy with myoclonic atonic seizures [RCV005056440]	likely benign\|uncertain significance	3	11025769	11025769	Human	2	name
13830132	CV579086	single nucleotide variant	NM_003042.4(SLC6A1):c.582-3C>T	Epilepsy with myoclonic atonic seizures [RCV003444662]\|Inborn genetic diseases [RCV002316749]	likely benign\|uncertain significance	3	11022333	11022333	Human	3	name
14708907	CV651057	single nucleotide variant	NM_003042.4(SLC6A1):c.581+3G>C	Epilepsy with myoclonic atonic seizures [RCV003444684]	uncertain significance	3	11020325	11020325	Human	2	name
15159565	CV759307	single nucleotide variant	NM_003042.4(SLC6A1):c.582-7T>G	Epilepsy with myoclonic atonic seizures [RCV003444709]\|not provided [RCV004546581]	likely benign	3	11022329	11022329	Human	2	name
15144408	CV774760	single nucleotide variant	NM_003042.4(SLC6A1):c.849+9C>T	Epilepsy with myoclonic atonic seizures [RCV005056698]	likely benign	3	11025592	11025592	Human	2	name
15121320	CV787163	single nucleotide variant	NM_003042.4(SLC6A1):c.472-5T>C	Epilepsy with myoclonic atonic seizures [RCV005056711]	likely benign	3	11020208	11020208	Human	2	name
21068453	CV795304	single nucleotide variant	NM_003042.4(SLC6A1):c.238+1G>T	not provided [RCV000997991]	likely pathogenic	3	11017450	11017450	Human		name
21404357	CV802056	single nucleotide variant	NM_003042.4(SLC6A1):c.715-1G>C	Epilepsy with myoclonic atonic seizures [RCV003444737]	likely pathogenic	3	11025448	11025448	Human	2	name
38464436	CV939926	single nucleotide variant	NM_003042.4(SLC6A1):c.472-1G>C	Epilepsy with myoclonic atonic seizures [RCV005057087]	likely pathogenic	3	11020212	11020212	Human	2	name
38485557	CV959674	single nucleotide variant	NM_003042.4(SLC6A1):c.715-3C>T	Epilepsy with myoclonic atonic seizures [RCV005057135]	benign\|uncertain significance	3	11025446	11025446	Human	2	name
126752070	CV989159	single nucleotide variant	NM_003042.4(SLC6A1):c.238+5G>T	Epilepsy with myoclonic atonic seizures [RCV005057241]	uncertain significance	3	11017454	11017454	Human	2	name
126759812	CV989160	single nucleotide variant	NM_003042.4(SLC6A1):c.714+5G>A	Epilepsy with myoclonic atonic seizures [RCV005057229]	uncertain significance	3	11022473	11022473	Human	2	name
127230461	CV1070173	single nucleotide variant	NM_003042.4(SLC6A1):c.1426+7A>G	Epilepsy with myoclonic atonic seizures [RCV005057363]	likely benign	3	11031286	11031286	Human	2	name
127240360	CV1091916	single nucleotide variant	NM_003042.4(SLC6A1):c.582-10G>C	Epilepsy with myoclonic atonic seizures [RCV003444873]	likely benign	3	11022326	11022326	Human	2	name
127297428	CV1113416	single nucleotide variant	NM_003042.4(SLC6A1):c.1324-9A>G	Epilepsy with myoclonic atonic seizures [RCV005057414]	likely benign	3	11031168	11031168	Human	2	name
127300639	CV1134298	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+7G>A	Epilepsy with myoclonic atonic seizures [RCV005057453]	likely benign	3	11028854	11028854	Human	2	name
127299331	CV1134299	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-8C>A	Epilepsy with myoclonic atonic seizures [RCV005057451]	likely benign	3	11034523	11034523	Human	2	name
150337408	CV1171014	single nucleotide variant	NM_003042.4(SLC6A1):c.471+67C>T	not provided [RCV001541627]	benign\|likely benign	3	11018765	11018765	Human		name
150409385	CV1176232	single nucleotide variant	NM_003042.4(SLC6A1):c.581+33C>T	not provided [RCV001546236]	likely benign	3	11020355	11020355	Human		name
150427591	CV1186490	single nucleotide variant	NM_003042.4(SLC6A1):c.472-85T>C	not provided [RCV001561126]	likely benign	3	11020128	11020128	Human		name
150459051	CV1202863	single nucleotide variant	NM_003042.4(SLC6A1):c.953+21G>T	not provided [RCV001586516]	likely benign	3	11025897	11025897	Human		name
150467730	CV1207144	single nucleotide variant	NM_003042.4(SLC6A1):c.371-21G>A	not provided [RCV001587936]	likely benign	3	11018577	11018577	Human		name
150497229	CV1208721	single nucleotide variant	NM_003042.4(SLC6A1):c.371-94C>T	not provided [RCV001593937]	likely benign	3	11018504	11018504	Human		name
150485803	CV1262170	single nucleotide variant	NM_003042.4(SLC6A1):c.581+54C>T	not provided [RCV001686861]	benign	3	11020376	11020376	Human		name
150447951	CV1270387	single nucleotide variant	NM_003042.4(SLC6A1):c.715-78C>T	not provided [RCV001691524]	benign	3	11025371	11025371	Human		name
150436391	CV1270953	single nucleotide variant	NM_003042.4(SLC6A1):c.849+72G>A	not provided [RCV001689503]	benign	3	11025655	11025655	Human		name
150477427	CV1272044	single nucleotide variant	NM_003042.4(SLC6A1):c.471+46G>C	not provided [RCV001696329]\|not specified [RCV004598110]	benign	3	11018744	11018744	Human		name
150529645	CV1289202	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+1G>A	Epilepsy with myoclonic atonic seizures [RCV003444920]	likely pathogenic	3	11028848	11028848	Human	2	name
150546765	CV1313893	single nucleotide variant	NM_003042.4(SLC6A1):c.1323+1G>A	Epilepsy with myoclonic atonic seizures [RCV005057615]	pathogenic	3	11029353	11029353	Human	2	name
151355759	CV1326943	deletion	NM_003042.4(SLC6A1):c.1324-2del	not provided [RCV001822112]	pathogenic	3	11031175	11031175	Human		name
151811155	CV1345255	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+8C>T	Epilepsy with myoclonic atonic seizures [RCV005057704]	likely benign\|uncertain significance	3	11028855	11028855	Human	2	name
151888698	CV1402248	single nucleotide variant	NM_003042.4(SLC6A1):c.1696-3C>T	Epilepsy with myoclonic atonic seizures [RCV005057723]	uncertain significance	3	11036859	11036859	Human	2	name
151880129	CV1411241	deletion	NM_003042.4(SLC6A1):c.1192-6del	Epilepsy with myoclonic atonic seizures [RCV005057909]	likely benign\|uncertain significance	3	11029214	11029214	Human	2	name
151834590	CV1446854	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-7T>A	Epilepsy with myoclonic atonic seizures [RCV003444989]\|SLC6A1-related disorder [RCV004538746]	likely benign\|uncertain significance	3	11034524	11034524	Human	2	name , alternate_id
152166609	CV1523288	single nucleotide variant	NM_003042.4(SLC6A1):c.1324-7C>T	Epilepsy with myoclonic atonic seizures [RCV005057966]	likely benign	3	11031170	11031170	Human	2	name
152045020	CV1525663	single nucleotide variant	NM_003042.4(SLC6A1):c.239-13T>C	Epilepsy with myoclonic atonic seizures [RCV005058095]	likely benign	3	11017830	11017830	Human	2	name
152117441	CV1541158	single nucleotide variant	NM_003042.4(SLC6A1):c.238+17G>A	Epilepsy with myoclonic atonic seizures [RCV005057998]	benign	3	11017466	11017466	Human	2	name
152123537	CV1546298	single nucleotide variant	NM_003042.4(SLC6A1):c.953+18C>T	Epilepsy with myoclonic atonic seizures [RCV005058037]	benign	3	11025894	11025894	Human	2	name
152076511	CV1551474	single nucleotide variant	NM_003042.4(SLC6A1):c.849+20C>T	Epilepsy with myoclonic atonic seizures [RCV005057988]	benign	3	11025603	11025603	Human	2	name
152111764	CV1552600	single nucleotide variant	NM_003042.4(SLC6A1):c.715-16C>T	Epilepsy with myoclonic atonic seizures [RCV005058100]	likely benign	3	11025433	11025433	Human	2	name
152155804	CV1572923	single nucleotide variant	NM_003042.4(SLC6A1):c.581+18A>C	Epilepsy with myoclonic atonic seizures [RCV005057981]	likely benign	3	11020340	11020340	Human	2	name
152070961	CV1601084	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+9G>C	Epilepsy with myoclonic atonic seizures [RCV005058023]\|not specified [RCV003479402]	likely benign	3	11028856	11028856	Human	2	name
152134065	CV1607771	single nucleotide variant	NM_003042.4(SLC6A1):c.582-10G>T	Epilepsy with myoclonic atonic seizures [RCV005058027]	likely benign	3	11022326	11022326	Human	2	name
152036474	CV1609810	single nucleotide variant	NM_003042.4(SLC6A1):c.850-18T>C	Epilepsy with myoclonic atonic seizures [RCV005057964]	likely benign	3	11025755	11025755	Human	2	name
152126723	CV1614887	single nucleotide variant	NM_003042.4(SLC6A1):c.1079-6G>A	Epilepsy with myoclonic atonic seizures [RCV005058064]	likely benign	3	11028729	11028729	Human	2	name
152066681	CV1636599	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-8T>C	Epilepsy with myoclonic atonic seizures [RCV005058075]	likely benign	3	11033631	11033631	Human	2	name
152169278	CV1636984	single nucleotide variant	NM_003042.4(SLC6A1):c.849+10C>T	Epilepsy with myoclonic atonic seizures [RCV005057982]	likely benign	3	11025593	11025593	Human	2	name
152098694	CV1639945	single nucleotide variant	NM_003042.4(SLC6A1):c.1696-4A>G	Epilepsy with myoclonic atonic seizures [RCV005058019]	likely benign	3	11036858	11036858	Human	2	name
152085734	CV1645258	single nucleotide variant	NM_003042.4(SLC6A1):c.953+19G>A	Epilepsy with myoclonic atonic seizures [RCV003445054]	benign\|likely benign	3	11025895	11025895	Human	2	name
152101076	CV1645733	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+9G>T	Epilepsy with myoclonic atonic seizures [RCV005057978]	likely benign	3	11028856	11028856	Human	2	name
152174399	CV1662844	single nucleotide variant	NM_003042.4(SLC6A1):c.238+14C>T	Epilepsy with myoclonic atonic seizures [RCV005058112]	benign	3	11017463	11017463	Human	2	name
153001304	CV1684099	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-9A>G	Epilepsy with myoclonic atonic seizures [RCV005058188]\|not provided [RCV002255026]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	11033630	11033630	Human	2	name
153303947	CV1690567	single nucleotide variant	NM_003042.4(SLC6A1):c.472-11T>A	not provided [RCV002269611]	uncertain significance	3	11020202	11020202	Human		name
155798079	CV1859563	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+2T>C	Epilepsy with myoclonic atonic seizures [RCV003444274]	not provided	3	11033741	11033741	Human		name
156361246	CV1900528	single nucleotide variant	NM_003042.4(SLC6A1):c.714+18A>G	Epilepsy with myoclonic atonic seizures [RCV005059160]	likely benign	3	11022486	11022486	Human	2	name
156418545	CV1922305	single nucleotide variant	NM_003042.4(SLC6A1):c.1324-4G>C	Epilepsy with myoclonic atonic seizures [RCV005059164]	likely benign	3	11031173	11031173	Human	2	name
156212160	CV1997170	deletion	NM_003042.4(SLC6A1):c.1191+9del	Epilepsy with myoclonic atonic seizures [RCV005058951]	likely benign	3	11028856	11028856	Human	2	name
156312069	CV2007018	single nucleotide variant	NM_003042.4(SLC6A1):c.471+11C>A	Epilepsy with myoclonic atonic seizures [RCV005058984]	likely benign	3	11018709	11018709	Human	2	name
156125276	CV2031080	single nucleotide variant	NM_003042.4(SLC6A1):c.953+20G>A	Epilepsy with myoclonic atonic seizures [RCV005059003]	likely benign	3	11025896	11025896	Human	2	name
156099276	CV2042107	single nucleotide variant	NM_003042.4(SLC6A1):c.238+18G>T	Epilepsy with myoclonic atonic seizures [RCV005059015]	likely benign	3	11017467	11017467	Human	2	name
155985985	CV2097739	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+8C>A	Epilepsy with myoclonic atonic seizures [RCV005059071]	likely benign	3	11033747	11033747	Human	2	name
155945113	CV2111477	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+1G>A	Epilepsy with myoclonic atonic seizures [RCV005059081]	likely pathogenic	3	11033740	11033740	Human	2	name
155985060	CV2136836	single nucleotide variant	NM_003042.4(SLC6A1):c.471+14T>A	Epilepsy with myoclonic atonic seizures [RCV005059105]	likely benign	3	11018712	11018712	Human	2	name
156042130	CV2188010	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-5T>G	Epilepsy with myoclonic atonic seizures [RCV005059127]	uncertain significance	3	11029216	11029216	Human	2	name
156350938	CV2189663	single nucleotide variant	NM_003042.4(SLC6A1):c.472-10G>T	Epilepsy with myoclonic atonic seizures [RCV005059126]	likely benign	3	11020203	11020203	Human	2	name
401922110	CV2819906	single nucleotide variant	NM_003042.4(SLC6A1):c.471+78C>G	not provided [RCV003433435]	likely benign	3	11018776	11018776	Human		name
401948356	CV2832317	single nucleotide variant	NM_003042.4(SLC6A1):c.1078+1G>C	Epilepsy with myoclonic atonic seizures [RCV005062950]	likely pathogenic	3	11026360	11026360	Human	2	name
405083274	CV2853583	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-1G>A	Epilepsy with myoclonic atonic seizures [RCV005062997]	pathogenic	3	11034530	11034530	Human	2	name
405085465	CV2872994	single nucleotide variant	NM_003042.4(SLC6A1):c.238+15G>A	Epilepsy with myoclonic atonic seizures [RCV005063009]	likely benign	3	11017464	11017464	Human	2	name
405085661	CV2877171	single nucleotide variant	NM_003042.4(SLC6A1):c.1695+1G>A	Epilepsy with myoclonic atonic seizures [RCV005063012]	likely pathogenic	3	11034699	11034699	Human	2	name
405088812	CV2904207	single nucleotide variant	NM_003042.4(SLC6A1):c.370+16A>G	Epilepsy with myoclonic atonic seizures [RCV005063037]	likely benign	3	11017990	11017990	Human	2	name
405088022	CV2905577	single nucleotide variant	NM_003042.4(SLC6A1):c.954-10C>G	Epilepsy with myoclonic atonic seizures [RCV005063028]	likely benign	3	11026225	11026225	Human	2	name
405089168	CV2906719	single nucleotide variant	NM_003042.4(SLC6A1):c.370+18G>C	Epilepsy with myoclonic atonic seizures [RCV005063032]	likely benign	3	11017992	11017992	Human	2	name
405089709	CV2919219	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-5T>C	Epilepsy with myoclonic atonic seizures [RCV005063040]	likely benign	3	11029216	11029216	Human	2	name
405090835	CV2921992	duplication	NM_003042.4(SLC6A1):c.371-16dup	Epilepsy with myoclonic atonic seizures [RCV005063048]	likely benign	3	11018581	11018582	Human	2	name
405092551	CV2924291	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+7A>G	Epilepsy with myoclonic atonic seizures [RCV005063053]	likely benign	3	11033746	11033746	Human	2	name
405091538	CV2932986	single nucleotide variant	NM_003042.4(SLC6A1):c.370+15C>T	Epilepsy with myoclonic atonic seizures [RCV005063051]	likely benign	3	11017989	11017989	Human	2	name
405060183	CV2962843	single nucleotide variant	NM_003042.4(SLC6A1):c.954-17C>T	Epilepsy with myoclonic atonic seizures [RCV005063079]	likely benign	3	11026218	11026218	Human	2	name
405061360	CV2972020	single nucleotide variant	NM_003042.4(SLC6A1):c.954-15C>T	Epilepsy with myoclonic atonic seizures [RCV005063084]	likely benign	3	11026220	11026220	Human	2	name
405062367	CV2979536	single nucleotide variant	NM_003042.4(SLC6A1):c.370+17G>A	Epilepsy with myoclonic atonic seizures [RCV005063095]	likely benign	3	11017991	11017991	Human	2	name
405063500	CV2993583	single nucleotide variant	NM_003042.4(SLC6A1):c.1078+4A>G	Epilepsy with myoclonic atonic seizures [RCV005063105]	uncertain significance	3	11026363	11026363	Human	2	name
405062710	CV2994201	single nucleotide variant	NM_003042.4(SLC6A1):c.954-17C>A	Epilepsy with myoclonic atonic seizures [RCV005063097]	likely benign	3	11026218	11026218	Human	2	name
405075743	CV3072075	deletion	NM_003042.4(SLC6A1):c.1427-4del	Epilepsy with myoclonic atonic seizures [RCV005063154]	likely benign	3	11033635	11033635	Human	2	name
405075574	CV3079874	single nucleotide variant	NM_003042.4(SLC6A1):c.714+17C>T	Epilepsy with myoclonic atonic seizures [RCV005063152]	likely benign	3	11022485	11022485	Human	2	name
405205187	CV3116961	single nucleotide variant	NM_003042.4(SLC6A1):c.953+13A>C	Epilepsy with myoclonic atonic seizures [RCV005063176]	likely benign	3	11025889	11025889	Human	2	name
405113315	CV3133623	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+3G>A	Epilepsy with myoclonic atonic seizures [RCV005063184]	uncertain significance	3	11028850	11028850	Human	2	name
405254420	CV3175123	single nucleotide variant	NM_003042.4(SLC6A1):c.370+18G>A	Epilepsy with myoclonic atonic seizures [RCV005063200]	likely benign	3	11017992	11017992	Human	2	name
408389346	CV3523026	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-3C>G	not provided [RCV004769407]	uncertain significance	3	11033636	11033636	Human		name
597832079	CV3781015	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-7C>T	Epilepsy with myoclonic atonic seizures [RCV005208476]	likely benign	3	11029214	11029214	Human	2	name
597832327	CV3785643	single nucleotide variant	NM_003042.4(SLC6A1):c.239-18T>C	Epilepsy with myoclonic atonic seizures [RCV005208479]	likely benign	3	11017825	11017825	Human	2	name
597832094	CV3836678	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-6C>T	Epilepsy with myoclonic atonic seizures [RCV005208504]	likely benign	3	11034525	11034525	Human	2	name
597832096	CV3847306	single nucleotide variant	NM_003042.4(SLC6A1):c.850-19T>C	Epilepsy with myoclonic atonic seizures [RCV005208505]	likely benign	3	11025754	11025754	Human	2	name
597832139	CV3857392	single nucleotide variant	NM_003042.4(SLC6A1):c.581+12G>T	Epilepsy with myoclonic atonic seizures [RCV005208515]	likely benign	3	11020334	11020334	Human	2	name
597832152	CV3858532	duplication	NM_003042.4(SLC6A1):c.238+18dup	Epilepsy with myoclonic atonic seizures [RCV005208518]	benign	3	11017463	11017464	Human	2	name
597832149	CV3861536	single nucleotide variant	NM_003042.4(SLC6A1):c.953+14G>T	Epilepsy with myoclonic atonic seizures [RCV005208517]	likely benign	3	11025890	11025890	Human	2	name
598126741	CV3882197	single nucleotide variant	NM_003042.4(SLC6A1):c.1078+5G>C	not provided [RCV005233748]	uncertain significance	3	11026364	11026364	Human		name
13480703	CV443334	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-1G>T	not provided [RCV000521304]	likely pathogenic	3	11033638	11033638	Human		name
13624761	CV518982	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+9G>A	Epilepsy with myoclonic atonic seizures [RCV005056381]\|SLC6A1-related disorder [RCV004544903]	likely benign	3	11028856	11028856	Human	2	name , alternate_id
13822091	CV558742	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-1G>A	Epilepsy with myoclonic atonic seizures [RCV005056443]	likely pathogenic	3	11033638	11033638	Human	2	name
13822122	CV558746	single nucleotide variant	NM_003042.4(SLC6A1):c.1695+3A>G	Epilepsy with myoclonic atonic seizures [RCV005056444]\|not provided [RCV004760725]	uncertain significance	3	11034701	11034701	Human	2	name
13830121	CV579059	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-5T>C	Epilepsy with myoclonic atonic seizures [RCV005056471]\|Inborn genetic diseases [RCV002316736]	likely benign\|uncertain significance	3	11034526	11034526	Human	3	name
14702660	CV653915	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-1G>C	Epilepsy with myoclonic atonic seizures [RCV003444695]	likely pathogenic	3	11034530	11034530	Human	2	name
15152851	CV743896	single nucleotide variant	NM_003042.4(SLC6A1):c.1696-7C>T	Epilepsy with myoclonic atonic seizures [RCV005056668]	likely benign	3	11036855	11036855	Human	2	name
15193227	CV777361	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-7T>C	not provided [RCV000955310]	likely benign	3	11034524	11034524	Human		name
26888560	CV851260	deletion	NM_003042.4(SLC6A1):c.1191+3del	Epilepsy with myoclonic atonic seizures [RCV005056823]	uncertain significance	3	11028850	11028850	Human	2	name
26910416	CV851264	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-2A>G	Epilepsy with myoclonic atonic seizures [RCV005056811]\|not provided [RCV004726812]	pathogenic\|likely pathogenic	3	11029219	11029219	Human	2	name
38484598	CV940734	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-1G>A	Epilepsy with myoclonic atonic seizures [RCV005057114]	pathogenic	3	11029220	11029220	Human	2	name
127304006	CV1154273	deletion	NM_003042.4(SLC6A1):c.1191+17del	Epilepsy with myoclonic atonic seizures [RCV005057468]\|not provided [RCV001685386]	benign	3	11028857	11028857	Human	2	name
150417867	CV1179599	single nucleotide variant	NM_003042.4(SLC6A1):c.715-295A>C	not provided [RCV001550340]	likely benign	3	11025154	11025154	Human		name
150429387	CV1186491	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+96G>A	not provided [RCV001563533]	likely benign	3	11033835	11033835	Human		name
150406643	CV1193210	single nucleotide variant	NM_003042.4(SLC6A1):c.472-170T>C	not provided [RCV001572077]	likely benign	3	11020043	11020043	Human		name
150419371	CV1193212	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-98G>A	not provided [RCV001569656]	likely benign	3	11029123	11029123	Human		name
150466655	CV1206184	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-30C>T	not provided [RCV001587759]	likely benign	3	11029191	11029191	Human		name
150475338	CV1217933	single nucleotide variant	NM_003042.4(SLC6A1):c.-153-81C>T	not provided [RCV001615944]	benign	3	11016978	11016978	Human		name
150494980	CV1241493	single nucleotide variant	NM_003042.4(SLC6A1):c.471+289G>C	not provided [RCV001655500]	benign	3	11018987	11018987	Human		name
150445929	CV1250589	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+78T>C	not provided [RCV001667093]\|not specified [RCV004598089]	benign	3	11033817	11033817	Human		name
150491240	CV1251159	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+36G>A	not provided [RCV001674827]	benign	3	11033775	11033775	Human	4	name
150491240	CV1251159	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+36G>A	not provided [RCV001674827]	benign	3	11033775	11033776	Human	4	name
150472313	CV1252224	single nucleotide variant	NM_003042.4(SLC6A1):c.715-259A>T	not provided [RCV001671425]	benign	3	11025190	11025190	Human		name
150462210	CV1253340	single nucleotide variant	NM_003042.4(SLC6A1):c.370+301C>T	not provided [RCV001669669]	benign	3	11018275	11018275	Human		name
150451994	CV1254900	single nucleotide variant	NM_003042.4(SLC6A1):c.715-293A>C	not provided [RCV001667959]	benign	3	11025156	11025156	Human		name
150500529	CV1256116	single nucleotide variant	NM_003042.4(SLC6A1):c.371-288A>G	not provided [RCV001676740]	benign	3	11018310	11018310	Human		name
150454955	CV1261070	single nucleotide variant	NM_003042.4(SLC6A1):c.471+287C>T	not provided [RCV001681268]	benign	3	11018985	11018985	Human		name
150483728	CV1263038	single nucleotide variant	NM_003042.4(SLC6A1):c.-153-65G>C	not provided [RCV001686438]	benign	3	11016994	11016994	Human		name
150467255	CV1269200	single nucleotide variant	NM_003042.4(SLC6A1):c.582-159G>A	not provided [RCV001694608]	benign	3	11022177	11022177	Human		name
150458273	CV1269608	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-43G>T	not provided [RCV001693148]	benign	3	11029178	11029178	Human		name
150461670	CV1275984	single nucleotide variant	NM_003042.4(SLC6A1):c.370+187G>A	not provided [RCV001709922]	benign	3	11018161	11018161	Human		name
150489645	CV1279157	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-37G>A	not provided [RCV001716334]	benign	3	11029184	11029184	Human		name
150482138	CV1279921	single nucleotide variant	NM_003042.4(SLC6A1):c.471+238C>G	not provided [RCV001714975]	benign	3	11018936	11018936	Human		name
152147502	CV1528593	single nucleotide variant	NM_003042.4(SLC6A1):c.1323+17C>G	Epilepsy with myoclonic atonic seizures [RCV005058071]	likely benign	3	11029369	11029369	Human	2	name
152161180	CV1555300	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-18C>T	Epilepsy with myoclonic atonic seizures [RCV005058028]	likely benign	3	11034513	11034513	Human	2	name
152164171	CV1560499	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+11G>A	Epilepsy with myoclonic atonic seizures [RCV005058044]	likely benign	3	11033750	11033750	Human	2	name
152155194	CV1560930	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-16C>T	Epilepsy with myoclonic atonic seizures [RCV005058024]	likely benign	3	11034515	11034515	Human	2	name
152123366	CV1570574	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+17C>G	Epilepsy with myoclonic atonic seizures [RCV005058010]	likely benign	3	11028864	11028864	Human	2	name
152106276	CV1572679	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+15C>G	Epilepsy with myoclonic atonic seizures [RCV005058047]	likely benign	3	11028862	11028862	Human	2	name
152120173	CV1574154	single nucleotide variant	NM_003042.4(SLC6A1):c.1324-14T>A	Epilepsy with myoclonic atonic seizures [RCV005057984]	likely benign	3	11031163	11031163	Human	2	name
152129198	CV1583861	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+11C>T	Epilepsy with myoclonic atonic seizures [RCV005058148]	likely benign	3	11028858	11028858	Human	2	name
152112852	CV1586475	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+15C>A	Epilepsy with myoclonic atonic seizures [RCV005057989]	likely benign	3	11028862	11028862	Human	2	name
152161986	CV1608716	single nucleotide variant	NM_003042.4(SLC6A1):c.1696-12C>G	Epilepsy with myoclonic atonic seizures [RCV005058029]	likely benign	3	11036850	11036850	Human	2	name
152073081	CV1609723	single nucleotide variant	NM_003042.4(SLC6A1):c.1079-14A>G	Epilepsy with myoclonic atonic seizures [RCV005058035]	benign	3	11028721	11028721	Human	2	name
152130337	CV1610602	single nucleotide variant	NM_003042.4(SLC6A1):c.1695+16C>G	Epilepsy with myoclonic atonic seizures [RCV005058038]\|not provided [RCV004709183]	benign	3	11034714	11034714	Human	2	name
152119922	CV1612154	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+17C>T	Epilepsy with myoclonic atonic seizures [RCV005058093]	likely benign	3	11028864	11028864	Human	2	name
152126957	CV1614983	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+18G>A	Epilepsy with myoclonic atonic seizures [RCV005058065]	benign	3	11028865	11028865	Human	2	name
152126094	CV1630374	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+13C>T	Epilepsy with myoclonic atonic seizures [RCV005057962]	likely benign	3	11028860	11028860	Human	2	name
152152792	CV1631247	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+13C>A	Epilepsy with myoclonic atonic seizures [RCV005058087]	likely benign	3	11028860	11028860	Human	2	name
152039926	CV1639950	single nucleotide variant	NM_003042.4(SLC6A1):c.1426+13C>G	Epilepsy with myoclonic atonic seizures [RCV005058020]	likely benign	3	11031292	11031292	Human	2	name
152056199	CV1656362	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+16G>A	Epilepsy with myoclonic atonic seizures [RCV005058032]	likely benign	3	11033755	11033755	Human	2	name
152091214	CV1662146	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+15C>T	Epilepsy with myoclonic atonic seizures [RCV005058036]	benign	3	11028862	11028862	Human	2	name
153305043	CV1687492	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-24G>T	not provided [RCV002263312]	benign\|likely benign	3	11029197	11029197	Human		name
156382063	CV1868541	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+12G>T	Epilepsy with myoclonic atonic seizures [RCV005059133]	likely benign	3	11033751	11033751	Human	2	name
156123432	CV1892720	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-11C>A	Epilepsy with myoclonic atonic seizures [RCV005059147]	likely benign	3	11033628	11033628	Human	2	name
156280535	CV1896750	single nucleotide variant	NM_003042.4(SLC6A1):c.1696-12C>T	Epilepsy with myoclonic atonic seizures [RCV005059158]	likely benign	3	11036850	11036850	Human	2	name
156336126	CV1997171	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+10C>A	Epilepsy with myoclonic atonic seizures [RCV005058952]	likely benign	3	11028857	11028857	Human	2	name
156175048	CV2051932	single nucleotide variant	NM_003042.4(SLC6A1):c.1079-12T>G	Epilepsy with myoclonic atonic seizures [RCV005059053]	likely benign	3	11028723	11028723	Human	2	name
405084256	CV2863110	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-18C>A	Epilepsy with myoclonic atonic seizures [RCV005063003]	likely benign	3	11033621	11033621	Human	2	name
405085105	CV2875694	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-14T>A	Epilepsy with myoclonic atonic seizures [RCV005063007]	likely benign	3	11034517	11034517	Human	2	name
405086743	CV2892626	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+11C>G	Epilepsy with myoclonic atonic seizures [RCV005063015]	likely benign	3	11028858	11028858	Human	2	name
405088713	CV2907550	single nucleotide variant	NM_003042.4(SLC6A1):c.1324-15C>T	Epilepsy with myoclonic atonic seizures [RCV005063036]	likely benign	3	11031162	11031162	Human	2	name
405061406	CV2976777	single nucleotide variant	NM_003042.4(SLC6A1):c.1426+17C>T	Epilepsy with myoclonic atonic seizures [RCV005063088]	likely benign	3	11031296	11031296	Human	2	name
405061724	CV2980928	single nucleotide variant	NM_003042.4(SLC6A1):c.1323+11T>C	Epilepsy with myoclonic atonic seizures [RCV005063089]	likely benign	3	11029363	11029363	Human	2	name
405062860	CV2985396	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-14T>C	Epilepsy with myoclonic atonic seizures [RCV005063091]	likely benign	3	11034517	11034517	Human	2	name
405063901	CV2996310	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-15C>T	Epilepsy with myoclonic atonic seizures [RCV005063102]	likely benign	3	11033624	11033624	Human	2	name
405065682	CV3009318	single nucleotide variant	NM_003042.4(SLC6A1):c.1695+13C>G	Epilepsy with myoclonic atonic seizures [RCV005063114]	likely benign	3	11034711	11034711	Human	2	name
405063787	CV3011453	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-18C>G	Epilepsy with myoclonic atonic seizures [RCV005063106]	likely benign	3	11033621	11033621	Human	2	name
405067897	CV3030946	single nucleotide variant	NM_003042.4(SLC6A1):c.1191+17C>A	Epilepsy with myoclonic atonic seizures [RCV005063126]	likely benign	3	11028864	11028864	Human	2	name
405148972	CV3123137	single nucleotide variant	NM_003042.4(SLC6A1):c.1192-18C>A	Epilepsy with myoclonic atonic seizures [RCV005063175]	likely benign	3	11029203	11029203	Human	2	name
405187951	CV3156570	single nucleotide variant	NM_003042.4(SLC6A1):c.1695+16C>T	Epilepsy with myoclonic atonic seizures [RCV005063192]	likely benign	3	11034714	11034714	Human	2	name
404981090	CV3183462	single nucleotide variant	NM_003042.4(SLC6A1):c.1079-15C>T	Epilepsy with myoclonic atonic seizures [RCV005063204]	likely benign	3	11028720	11028720	Human	2	name
597837068	CV3761437	single nucleotide variant	NM_003042.4(SLC6A1):c.1323+18C>A	Epilepsy with myoclonic atonic seizures [RCV005085808]	likely benign	3	11029370	11029370	Human	2	name
597832278	CV3815869	single nucleotide variant	NM_003042.4(SLC6A1):c.1078+15G>A	Epilepsy with myoclonic atonic seizures [RCV005208495]	likely benign	3	11026374	11026374	Human	2	name
13489394	CV451967	duplication	NM_003042.4(SLC6A1):c.1191+17dup	Epilepsy with myoclonic atonic seizures [RCV005056167]\|not provided [RCV001692194]	benign	3	11028856	11028857	Human	2	name
150338892	CV1167264	single nucleotide variant	NM_003042.4(SLC6A1):c.1323+210A>T	not provided [RCV001533841]	likely benign	3	11029562	11029562	Human		name
150434264	CV1204304	single nucleotide variant	NM_003042.4(SLC6A1):c.-153-168C>G	not provided [RCV001582053]	likely benign	3	11016891	11016891	Human		name
150463413	CV1206728	single nucleotide variant	NM_003042.4(SLC6A1):c.1079-231C>G	not provided [RCV001587129]	likely benign	3	11028504	11028504	Human		name
150479175	CV1207792	single nucleotide variant	NM_003042.4(SLC6A1):c.-153-284A>G	not provided [RCV001590068]	likely benign	3	11016775	11016775	Human		name
150513372	CV1211909	single nucleotide variant	NM_003042.4(SLC6A1):c.1696-175G>A	not provided [RCV001598430]	benign	3	11036687	11036687	Human		name
150515891	CV1216366	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-305T>C	not provided [RCV001608557]	benign	3	11034226	11034226	Human		name
150454673	CV1220323	single nucleotide variant	NM_003042.4(SLC6A1):c.1323+206A>G	not provided [RCV001612415]	benign	3	11029558	11029558	Human		name
150517357	CV1226806	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-227T>C	not provided [RCV001639900]	benign	3	11034304	11034304	Human		name
150487321	CV1237314	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-141C>T	not provided [RCV001654163]	benign	3	11033498	11033498	Human		name
150476654	CV1239913	single nucleotide variant	NM_003042.4(SLC6A1):c.1427-311C>T	not provided [RCV001652090]	benign	3	11033328	11033328	Human		name
150511497	CV1242729	single nucleotide variant	NM_003042.4(SLC6A1):c.1426+284G>A	not provided [RCV001661081]	benign	3	11031563	11031563	Human		name
150453242	CV1255060	single nucleotide variant	NM_003042.4(SLC6A1):c.1527+320G>T	not provided [RCV001668119]	benign	3	11034059	11034059	Human		name
150448212	CV1270429	single nucleotide variant	NM_003042.4(SLC6A1):c.1079-230G>A	not provided [RCV001691566]	benign	3	11028505	11028505	Human		name
150445092	CV1278095	single nucleotide variant	NM_003042.4(SLC6A1):c.-153-243T>C	not provided [RCV001707238]	benign	3	11016816	11016816	Human		name
150473551	CV1281519	single nucleotide variant	NM_003042.4(SLC6A1):c.1528-318T>C	not provided [RCV001713548]	benign	3	11034213	11034213	Human		name
152059415	CV1652185	deletion	NM_003042.4(SLC6A1):c.582-9_582-6del	Epilepsy with myoclonic atonic seizures [RCV005057992]	likely benign	3	11022325	11022328	Human	2	name
156225368	CV2085541	single nucleotide variant	NM_003042.4(SLC6A1):c.9C>A (p.Thr3=)	Epilepsy with myoclonic atonic seizures [RCV005059066]	likely benign	3	11017220	11017220	Human	2	name
13624756	CV518752	single nucleotide variant	NM_003042.4(SLC6A1):c.6G>A (p.Ala2=)	Epilepsy with myoclonic atonic seizures [RCV005056386]\|Inborn genetic diseases [RCV002311988]\|SLC6A1-related disorder [RCV004544904]\|not provided [RCV001709680]	benign\|likely benign	3	11017217	11017217	Human	3	name , alternate_id
150484935	CV1250125	microsatellite	NM_003042.4(SLC6A1):c.1528-27CCCTC[2]	not provided [RCV001673738]	benign	3	11034504	11034508	Human		name
152114385	CV1537312	single nucleotide variant	NM_003042.4(SLC6A1):c.12C>T (p.Asn4=)	Epilepsy with myoclonic atonic seizures [RCV005058042]	likely benign	3	11017223	11017223	Human	2	name
152148030	CV1618819	single nucleotide variant	NM_003042.4(SLC6A1):c.27C>T (p.Ala9=)	Epilepsy with myoclonic atonic seizures [RCV005058085]	likely benign	3	11017238	11017238	Human	2	name
402520956	CV3179425	microsatellite	NM_003042.4(SLC6A1):c.472-10_472-9del	Epilepsy with myoclonic atonic seizures [RCV005063203]	likely benign	3	11020200	11020201	Human		name
127303548	CV1134288	single nucleotide variant	NM_003042.4(SLC6A1):c.72T>C (p.Asn24=)	Epilepsy with myoclonic atonic seizures [RCV005057437]\|Inborn genetic diseases [RCV002384777]	likely benign	3	11017283	11017283	Human	3	name
150415618	CV1176231	single nucleotide variant	NM_003042.4(SLC6A1):c.5C>A (p.Ala2Glu)	Epilepsy with myoclonic atonic seizures [RCV005057500]\|not provided [RCV001548659]	likely benign\|uncertain significance	3	11017216	11017216	Human	2	name
152115696	CV1662330	single nucleotide variant	NM_003042.4(SLC6A1):c.99G>A (p.Lys33=)	Epilepsy with myoclonic atonic seizures [RCV005058022]	likely benign	3	11017310	11017310	Human	2	name
156411095	CV1892910	single nucleotide variant	NM_003042.4(SLC6A1):c.5C>T (p.Ala2Val)	Epilepsy with myoclonic atonic seizures [RCV005059149]	likely benign	3	11017216	11017216	Human	2	name
156308098	CV2067065	single nucleotide variant	NM_003042.4(SLC6A1):c.30C>T (p.Asp10=)	Epilepsy with myoclonic atonic seizures [RCV005059056]	benign	3	11017241	11017241	Human	2	name
405084868	CV2859310	deletion	NM_003042.4(SLC6A1):c.953+12_953+22del	Epilepsy with myoclonic atonic seizures [RCV005063001]	likely benign	3	11025885	11025895	Human	2	name
405067789	CV3025981	single nucleotide variant	NM_003042.4(SLC6A1):c.69C>T (p.Ala23=)	Epilepsy with myoclonic atonic seizures [RCV005063123]	likely benign	3	11017280	11017280	Human	2	name
597832060	CV3774429	single nucleotide variant	NM_003042.4(SLC6A1):c.1A>G (p.Met1Val)	Epilepsy with myoclonic atonic seizures [RCV005208470]	pathogenic	3	11017212	11017212	Human	2	name
597832216	CV3831432	deletion	NM_003042.4(SLC6A1):c.581+18_581+19del	Epilepsy with myoclonic atonic seizures [RCV005208498]	likely benign	3	11020340	11020341	Human	2	name
13466987	CV451980	deletion	NM_003042.4(SLC6A1):c.1426+3_1426+6del	Epilepsy with myoclonic atonic seizures [RCV005056169]	uncertain significance	3	11031280	11031283	Human	2	name
13487446	CV452126	single nucleotide variant	NM_003042.4(SLC6A1):c.45C>T (p.Thr15=)	Epilepsy with myoclonic atonic seizures [RCV005056176]\|Inborn genetic diseases [RCV002341458]\|SLC6A1-related disorder [RCV004538081]\|not provided [RCV001570516]	likely benign	3	11017256	11017256	Human	3	name , alternate_id
15113065	CV747869	single nucleotide variant	NM_003042.4(SLC6A1):c.69C>A (p.Ala23=)	not provided [RCV000917025]	likely benign	3	11017280	11017280	Human		name
26894429	CV827301	single nucleotide variant	NM_003042.4(SLC6A1):c.54C>T (p.Ser18=)	Epilepsy with myoclonic atonic seizures [RCV005056828]	uncertain significance	3	11017265	11017265	Human	2	name
38463630	CV943250	deletion	NM_003042.4(SLC6A1):c.25del (p.Ala9fs)	Epilepsy with myoclonic atonic seizures [RCV003444801]	pathogenic	3	11017235	11017235	Human	2	name
127280862	CV1091913	single nucleotide variant	NM_003042.4(SLC6A1):c.162C>G (p.Leu54=)	Epilepsy with myoclonic atonic seizures [RCV005057409]	likely benign	3	11017373	11017373	Human	2	name
127276126	CV1091914	single nucleotide variant	NM_003042.4(SLC6A1):c.222C>T (p.Cys74=)	Epilepsy with myoclonic atonic seizures [RCV005057397]	likely benign	3	11017433	11017433	Human	2	name
127307870	CV1134289	single nucleotide variant	NM_003042.4(SLC6A1):c.258T>C (p.Tyr86=)	Epilepsy with myoclonic atonic seizures [RCV005057457]\|SLC6A1-related disorder [RCV004533900]	likely benign	3	11017862	11017862	Human	2	name , alternate_id
152054263	CV1574255	insertion	NM_003042.4(SLC6A1):c.1191+8_1191+9insA	Epilepsy with myoclonic atonic seizures [RCV005057985]\|not specified [RCV003479396]	likely benign	3	11028855	11028856	Human	2	name
152097007	CV1623566	single nucleotide variant	NM_003042.4(SLC6A1):c.291C>A (p.Leu97=)	Epilepsy with myoclonic atonic seizures [RCV005058012]	likely benign	3	11017895	11017895	Human	2	name
152027096	CV1636019	single nucleotide variant	NM_003042.4(SLC6A1):c.186C>T (p.Ile62=)	Epilepsy with myoclonic atonic seizures [RCV005057952]	likely benign	3	11017397	11017397	Human	2	name
155714722	CV1849253	single nucleotide variant	NM_003042.4(SLC6A1):c.270C>T (p.Leu90=)	Inborn genetic diseases [RCV002431171]	likely benign	3	11017874	11017874	Human	1	name
156230701	CV2019719	single nucleotide variant	NM_003042.4(SLC6A1):c.138G>C (p.Thr46=)	Epilepsy with myoclonic atonic seizures [RCV005058997]	likely benign	3	11017349	11017349	Human	2	name
156201039	CV2062943	single nucleotide variant	NM_003042.4(SLC6A1):c.144G>A (p.Lys48=)	Epilepsy with myoclonic atonic seizures [RCV005059054]	likely benign	3	11017355	11017355	Human	2	name
156123390	CV2112207	single nucleotide variant	NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)	Epilepsy with myoclonic atonic seizures [RCV005059084]\|Inborn genetic diseases [RCV004673737]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	11017224	11017224	Human	3	name
405174194	CV2853584	single nucleotide variant	NM_003042.4(SLC6A1):c.153C>T (p.Phe51=)	not provided [RCV003542610]	uncertain significance	3	11017364	11017364	Human		name
405087287	CV2883579	single nucleotide variant	NM_003042.4(SLC6A1):c.126C>G (p.Pro42=)	Epilepsy with myoclonic atonic seizures [RCV005063018]	likely benign	3	11017337	11017337	Human	2	name
405089531	CV2919806	single nucleotide variant	NM_003042.4(SLC6A1):c.190C>T (p.Leu64=)	Epilepsy with myoclonic atonic seizures [RCV005063041]	likely benign	3	11017401	11017401	Human	2	name
405062235	CV2989111	single nucleotide variant	NM_003042.4(SLC6A1):c.135C>T (p.Asp45=)	Epilepsy with myoclonic atonic seizures [RCV005063094]	likely benign	3	11017346	11017346	Human	2	name
405064461	CV3011504	single nucleotide variant	NM_003042.4(SLC6A1):c.138G>T (p.Thr46=)	Epilepsy with myoclonic atonic seizures [RCV005063107]	likely benign	3	11017349	11017349	Human	2	name
405076341	CV3072073	deletion	NM_003042.4(SLC6A1):c.1427-10_1427-7del	Epilepsy with myoclonic atonic seizures [RCV005063153]	likely benign	3	11033629	11033632	Human	2	name
405209228	CV3145822	single nucleotide variant	NM_003042.4(SLC6A1):c.159C>T (p.Phe53=)	Epilepsy with myoclonic atonic seizures [RCV005063187]	likely benign	3	11017370	11017370	Human	2	name
597832066	CV3769221	single nucleotide variant	NM_003042.4(SLC6A1):c.255C>T (p.Pro85=)	Epilepsy with myoclonic atonic seizures [RCV005208472]	likely benign	3	11017859	11017859	Human	2	name
597832309	CV3792024	single nucleotide variant	NM_003042.4(SLC6A1):c.162C>T (p.Leu54=)	Epilepsy with myoclonic atonic seizures [RCV005208485]	likely benign	3	11017373	11017373	Human	2	name
597832318	CV3797149	single nucleotide variant	NM_003042.4(SLC6A1):c.147C>T (p.Gly49=)	Epilepsy with myoclonic atonic seizures [RCV005208482]	likely benign	3	11017358	11017358	Human	2	name
13496550	CV451896	single nucleotide variant	NM_003042.4(SLC6A1):c.138G>A (p.Thr46=)	Epilepsy with myoclonic atonic seizures [RCV005056168]\|Inborn genetic diseases [RCV002311879]\|SLC6A1-related disorder [RCV004543229]\|not provided [RCV000713348]	benign	3	11017349	11017349	Human	3	name , alternate_id
15117935	CV747870	single nucleotide variant	NM_003042.4(SLC6A1):c.126C>T (p.Pro42=)	Epilepsy with myoclonic atonic seizures [RCV005056678]	likely benign	3	11017337	11017337	Human	2	name
15201079	CV763508	single nucleotide variant	NM_003042.4(SLC6A1):c.114G>A (p.Ala38=)	Epilepsy with myoclonic atonic seizures [RCV003444714]\|not provided [RCV000935563]	likely benign	3	11017325	11017325	Human	2	name
15141025	CV763509	single nucleotide variant	NM_003042.4(SLC6A1):c.114G>C (p.Ala38=)	Epilepsy with myoclonic atonic seizures [RCV003444717]	likely benign	3	11017325	11017325	Human	2	name
15119495	CV781503	single nucleotide variant	NM_003042.4(SLC6A1):c.201C>T (p.Val67=)	Epilepsy with myoclonic atonic seizures [RCV005056710]\|not provided [RCV004546589]	likely benign	3	11017412	11017412	Human	2	name
38460850	CV943252	single nucleotide variant	NM_003042.4(SLC6A1):c.279G>A (p.Ala93=)	Epilepsy with myoclonic atonic seizures [RCV005057128]\|not provided [RCV002245888]\|not specified [RCV004768947]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	11017883	11017883	Human	2	name
126753921	CV989158	single nucleotide variant	NM_003042.4(SLC6A1):c.237G>A (p.Gly79=)	Epilepsy with myoclonic atonic seizures [RCV005057242]	uncertain significance	3	11017448	11017448	Human	2	name
126730561	CV1004407	single nucleotide variant	NM_003042.4(SLC6A1):c.40T>C (p.Ser14Pro)	Epilepsy with myoclonic atonic seizures [RCV005057249]	benign\|uncertain significance	3	11017251	11017251	Human	2	name
126763442	CV1004408	single nucleotide variant	NM_003042.4(SLC6A1):c.789G>T (p.Gly263=)	Epilepsy with myoclonic atonic seizures [RCV005057254]	likely benign\|uncertain significance	3	11025523	11025523	Human	2	name
127270026	CV1070163	single nucleotide variant	NM_003042.4(SLC6A1):c.360T>C (p.Pro120=)	Epilepsy with myoclonic atonic seizures [RCV005057368]	likely benign	3	11017964	11017964	Human	2	name
127251704	CV1070164	single nucleotide variant	NM_003042.4(SLC6A1):c.378C>T (p.Gly126=)	Epilepsy with myoclonic atonic seizures [RCV005057366]\|Inborn genetic diseases [RCV002350763]\|SLC6A1-related disorder [RCV004531219]	likely benign	3	11018605	11018605	Human	3	name , alternate_id
127280240	CV1070167	single nucleotide variant	NM_003042.4(SLC6A1):c.747C>A (p.Ile249=)	Epilepsy with myoclonic atonic seizures [RCV005057374]	likely benign	3	11025481	11025481	Human	2	name
127235269	CV1070168	single nucleotide variant	NM_003042.4(SLC6A1):c.786C>T (p.Pro262=)	Epilepsy with myoclonic atonic seizures [RCV005057361]	likely benign	3	11025520	11025520	Human	2	name
127275750	CV1070169	single nucleotide variant	NM_003042.4(SLC6A1):c.807C>T (p.Leu269=)	Epilepsy with myoclonic atonic seizures [RCV005057369]\|Inborn genetic diseases [RCV002420909]	likely benign	3	11025541	11025541	Human	3	name
127232993	CV1070170	single nucleotide variant	NM_003042.4(SLC6A1):c.891G>C (p.Gly297=)	Epilepsy with myoclonic atonic seizures [RCV005057379]	likely benign	3	11025814	11025814	Human	2	name
127262562	CV1070171	single nucleotide variant	NM_003042.4(SLC6A1):c.903G>T (p.Gly301=)	Epilepsy with myoclonic atonic seizures [RCV005057367]	likely benign	3	11025826	11025826	Human	2	name
127296781	CV1113409	single nucleotide variant	NM_003042.4(SLC6A1):c.354G>T (p.Leu118=)	Epilepsy with myoclonic atonic seizures [RCV005057433]	likely benign	3	11017958	11017958	Human	2	name
127319470	CV1113410	single nucleotide variant	NM_003042.4(SLC6A1):c.366C>T (p.Phe122=)	Epilepsy with myoclonic atonic seizures [RCV005057421]	likely benign	3	11017970	11017970	Human	2	name
127297641	CV1113411	single nucleotide variant	NM_003042.4(SLC6A1):c.453G>A (p.Leu151=)	Epilepsy with myoclonic atonic seizures [RCV005057415]	likely benign	3	11018680	11018680	Human	2	name
127297107	CV1113412	single nucleotide variant	NM_003042.4(SLC6A1):c.906C>A (p.Ser302=)	Epilepsy with myoclonic atonic seizures [RCV005057434]	likely benign	3	11025829	11025829	Human	2	name
127327801	CV1113413	single nucleotide variant	NM_003042.4(SLC6A1):c.966C>T (p.Ile322=)	Epilepsy with myoclonic atonic seizures [RCV005057424]\|Inborn genetic diseases [RCV002377797]\|not provided [RCV001581149]	likely benign	3	11026247	11026247	Human	3	name
127334017	CV1113414	single nucleotide variant	NM_003042.4(SLC6A1):c.987C>T (p.Cys329=)	Epilepsy with myoclonic atonic seizures [RCV005057430]	likely benign	3	11026268	11026268	Human	2	name
127313525	CV1134290	single nucleotide variant	NM_003042.4(SLC6A1):c.396A>G (p.Leu132=)	Epilepsy with myoclonic atonic seizures [RCV005057440]\|not specified [RCV004998923]	likely benign	3	11018623	11018623	Human	2	name
127312036	CV1134292	single nucleotide variant	NM_003042.4(SLC6A1):c.726T>C (p.Phe242=)	Epilepsy with myoclonic atonic seizures [RCV005057460]	likely benign	3	11025460	11025460	Human	2	name
127300281	CV1134293	single nucleotide variant	NM_003042.4(SLC6A1):c.918C>T (p.Leu306=)	Epilepsy with myoclonic atonic seizures [RCV005057452]\|not provided [RCV004711692]	likely benign	3	11025841	11025841	Human	2	name
127334258	CV1134294	single nucleotide variant	NM_003042.4(SLC6A1):c.984G>C (p.Ser328=)	Epilepsy with myoclonic atonic seizures [RCV005057446]	likely benign	3	11026265	11026265	Human	2	name
127296098	CV1154272	single nucleotide variant	NM_003042.4(SLC6A1):c.864G>A (p.Ala288=)	Epilepsy with myoclonic atonic seizures [RCV005057466]	benign	3	11025787	11025787	Human	2	name
127307166	CV1154274	duplication	NM_003042.4(SLC6A1):c.1191+16_1191+17dup	Epilepsy with myoclonic atonic seizures [RCV005057471]\|not provided [RCV001557347]	benign\|likely benign	3	11028856	11028857	Human	2	name
150330528	CV1168561	single nucleotide variant	NM_003042.4(SLC6A1):c.89T>A (p.Leu30Ter)	Epilepsy with myoclonic atonic seizures [RCV003444912]	pathogenic	3	11017300	11017300	Human	2	name
150334728	CV1171015	single nucleotide variant	NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)	Epilepsy with myoclonic atonic seizures [RCV005057495]\|Inborn genetic diseases [RCV002568250]\|not provided [RCV001540207]\|not specified [RCV003399340]	likely benign\|uncertain significance	3	11022336	11022336	Human	3	name
150527893	CV1300897	single nucleotide variant	NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe)	Epilepsy with myoclonic atonic seizures [RCV005057583]\|not provided [RCV001754757]	uncertain significance	3	11017301	11017301	Human	2	name
150531446	CV1301905	single nucleotide variant	NM_003042.4(SLC6A1):c.55G>A (p.Glu19Lys)	Epilepsy with myoclonic atonic seizures [RCV005208169]\|not provided [RCV001757122]	uncertain significance	3	11017266	11017266	Human	2	name
151233510	CV1317919	duplication	NM_003042.4(SLC6A1):c.104dup (p.Lys36fs)	Epilepsy with myoclonic atonic seizures [RCV003444929]	not provided	3	11017314	11017315	Human		name
151758743	CV1342973	single nucleotide variant	NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser)	Epilepsy with myoclonic atonic seizures [RCV005057934]	uncertain significance	3	11017290	11017290	Human	2	name
151863734	CV1431445	single nucleotide variant	NM_003042.4(SLC6A1):c.546T>G (p.Thr182=)	Epilepsy with myoclonic atonic seizures [RCV003444960]	likely benign	3	11020287	11020287	Human	2	name
151733872	CV1456680	single nucleotide variant	NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn)	Epilepsy with myoclonic atonic seizures [RCV005057678]\|Inborn genetic diseases [RCV002543479]\|not provided [RCV003312013]	likely benign\|uncertain significance	3	11017239	11017239	Human	3	name
152037376	CV1532463	single nucleotide variant	NM_003042.4(SLC6A1):c.333G>A (p.Gly111=)	Epilepsy with myoclonic atonic seizures [RCV005058080]	likely benign	3	11017937	11017937	Human	2	name
152110071	CV1536918	single nucleotide variant	NM_003042.4(SLC6A1):c.720C>T (p.Val240=)	Epilepsy with myoclonic atonic seizures [RCV005058013]	likely benign	3	11025454	11025454	Human	2	name
152150973	CV1567556	single nucleotide variant	NM_003042.4(SLC6A1):c.318G>A (p.Gln106=)	Epilepsy with myoclonic atonic seizures [RCV005058058]	likely benign	3	11017922	11017922	Human	2	name
152139134	CV1572388	single nucleotide variant	NM_003042.4(SLC6A1):c.828C>T (p.Phe276=)	Epilepsy with myoclonic atonic seizures [RCV005058016]\|not provided [RCV002219140]	likely benign	3	11025562	11025562	Human	2	name
152172007	CV1597942	single nucleotide variant	NM_003042.4(SLC6A1):c.684T>C (p.Cys228=)	Epilepsy with myoclonic atonic seizures [RCV005057960]	likely benign	3	11022438	11022438	Human	2	name
152165990	CV1618200	single nucleotide variant	NM_003042.4(SLC6A1):c.798G>A (p.Glu266=)	Epilepsy with myoclonic atonic seizures [RCV005058150]\|not provided [RCV003886570]	likely benign	3	11025532	11025532	Human	2	name
152044646	CV1622056	single nucleotide variant	NM_003042.4(SLC6A1):c.903G>C (p.Gly301=)	Epilepsy with myoclonic atonic seizures [RCV005058031]\|not provided [RCV004711809]	likely benign	3	11025826	11025826	Human	2	name
155715896	CV1785039	single nucleotide variant	NM_003042.4(SLC6A1):c.309C>T (p.Ser103=)	Epilepsy with myoclonic atonic seizures [RCV005058266]\|Inborn genetic diseases [RCV002325899]	likely benign	3	11017913	11017913	Human	3	name
155665447	CV1786784	single nucleotide variant	NM_003042.4(SLC6A1):c.372C>T (p.Gly124=)	Epilepsy with myoclonic atonic seizures [RCV005058327]\|Inborn genetic diseases [RCV002349163]	likely benign	3	11018599	11018599	Human	3	name
155717408	CV1792261	single nucleotide variant	NM_003042.4(SLC6A1):c.330C>T (p.Ile110=)	Inborn genetic diseases [RCV002326285]	likely benign	3	11017934	11017934	Human	1	name
155741728	CV1816469	single nucleotide variant	NM_003042.4(SLC6A1):c.783G>C (p.Leu261=)	Inborn genetic diseases [RCV002412167]	likely benign	3	11025517	11025517	Human	1	name
155702030	CV1818491	single nucleotide variant	NM_003042.4(SLC6A1):c.969C>T (p.Val323=)	Inborn genetic diseases [RCV002376610]	likely benign	3	11026250	11026250	Human	1	name
156438756	CV1947373	single nucleotide variant	NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)	Epilepsy with myoclonic atonic seizures [RCV005060927]	uncertain significance	3	11017257	11017257	Human	2	name
156241693	CV2028385	single nucleotide variant	NM_003042.4(SLC6A1):c.480G>A (p.Pro160=)	Epilepsy with myoclonic atonic seizures [RCV005059006]	likely benign	3	11020221	11020221	Human	2	name
156210772	CV2074221	single nucleotide variant	NM_003042.4(SLC6A1):c.342G>T (p.Gly114=)	Epilepsy with myoclonic atonic seizures [RCV005059057]	likely benign	3	11017946	11017946	Human	2	name
156324023	CV2163205	single nucleotide variant	NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)	Epilepsy with myoclonic atonic seizures [RCV005059119]	uncertain significance	3	11017270	11017270	Human	2	name
156088133	CV2170723	single nucleotide variant	NM_003042.4(SLC6A1):c.837G>A (p.Leu279=)	Epilepsy with myoclonic atonic seizures [RCV005059121]	likely benign	3	11025571	11025571	Human	2	name
401828365	CV2743338	single nucleotide variant	NM_003042.4(SLC6A1):c.46G>T (p.Glu16Ter)	Epilepsy with myoclonic atonic seizures [RCV003444384]	pathogenic	3	11017257	11017257	Human	2	name
401914976	CV2799283	single nucleotide variant	NM_003042.4(SLC6A1):c.99G>T (p.Lys33Asn)	SLC6A1-related disorder [RCV004529348]	uncertain significance	3	11017310	11017310	Human		name , trait , alternate_id
401933352	CV2804098	single nucleotide variant	NM_003042.4(SLC6A1):c.85A>G (p.Thr29Ala)	SLC6A1-related disorder [RCV004531730]	uncertain significance	3	11017296	11017296	Human		name , trait , alternate_id
401922113	CV2819909	single nucleotide variant	NM_003042.4(SLC6A1):c.864G>C (p.Ala288=)	not provided [RCV003433438]	likely benign	3	11025787	11025787	Human		name
401917021	CV2829619	single nucleotide variant	NM_003042.4(SLC6A1):c.74A>T (p.Asp25Val)	not provided [RCV003443663]	uncertain significance	3	11017285	11017285	Human		name
405085477	CV2873046	single nucleotide variant	NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)	Epilepsy with myoclonic atonic seizures [RCV005063010]	uncertain significance	3	11017281	11017281	Human	2	name
405088461	CV2900595	single nucleotide variant	NM_003042.4(SLC6A1):c.732C>T (p.Ala244=)	Epilepsy with myoclonic atonic seizures [RCV005063033]	likely benign	3	11025466	11025466	Human	2	name
405089787	CV2920503	single nucleotide variant	NM_003042.4(SLC6A1):c.735A>T (p.Thr245=)	Epilepsy with myoclonic atonic seizures [RCV005063042]	likely benign	3	11025469	11025469	Human	2	name
405090276	CV2921382	single nucleotide variant	NM_003042.4(SLC6A1):c.549C>T (p.Thr183=)	Epilepsy with myoclonic atonic seizures [RCV005063044]	likely benign	3	11020290	11020290	Human	2	name
405067011	CV3010662	single nucleotide variant	NM_003042.4(SLC6A1):c.856C>T (p.Leu286=)	Epilepsy with myoclonic atonic seizures [RCV005063118]	likely benign	3	11025779	11025779	Human	2	name
405071665	CV3054824	single nucleotide variant	NM_003042.4(SLC6A1):c.423C>T (p.Ile141=)	Epilepsy with myoclonic atonic seizures [RCV005063135]\|SLC6A1-related disorder [RCV004539086]	likely benign	3	11018650	11018650	Human	2	name , alternate_id
405073570	CV3057475	single nucleotide variant	NM_003042.4(SLC6A1):c.606C>T (p.Asp202=)	Epilepsy with myoclonic atonic seizures [RCV005063142]	likely benign	3	11022360	11022360	Human	2	name
405074500	CV3062238	single nucleotide variant	NM_003042.4(SLC6A1):c.570G>A (p.Val190=)	Epilepsy with myoclonic atonic seizures [RCV005063145]	likely benign	3	11020311	11020311	Human	2	name
405075968	CV3075752	single nucleotide variant	NM_003042.4(SLC6A1):c.300G>A (p.Leu100=)	Epilepsy with myoclonic atonic seizures [RCV005063149]	likely benign	3	11017904	11017904	Human	2	name
405075225	CV3079165	single nucleotide variant	NM_003042.4(SLC6A1):c.945T>C (p.Asn315=)	Epilepsy with myoclonic atonic seizures [RCV005063151]	likely benign	3	11025868	11025868	Human	2	name
405111384	CV3137293	single nucleotide variant	NM_003042.4(SLC6A1):c.831C>T (p.Arg277=)	Epilepsy with myoclonic atonic seizures [RCV005063183]	likely benign	3	11025565	11025565	Human	2	name
402509412	CV3182162	single nucleotide variant	NM_003042.4(SLC6A1):c.804C>T (p.Ile268=)	Epilepsy with myoclonic atonic seizures [RCV005063199]	likely benign	3	11025538	11025538	Human	2	name
405258652	CV3194092	single nucleotide variant	NM_003042.4(SLC6A1):c.426C>T (p.Val142=)	SLC6A1-related disorder [RCV004539210]	likely benign	3	11018653	11018653	Human		name , trait , alternate_id
405259776	CV3195226	single nucleotide variant	NM_003042.4(SLC6A1):c.696T>G (p.Gly232=)	SLC6A1-related disorder [RCV004534638]	likely benign	3	11022450	11022450	Human		name , trait , alternate_id
408368276	CV3509459	single nucleotide variant	NM_003042.4(SLC6A1):c.426C>G (p.Val142=)	SLC6A1-related disorder [RCV004734992]	likely benign	3	11018653	11018653	Human		name , trait , alternate_id
408368509	CV3513025	single nucleotide variant	NM_003042.4(SLC6A1):c.306C>T (p.Cys102=)	SLC6A1-related disorder [RCV004735251]	likely benign	3	11017910	11017910	Human		name , trait , alternate_id
596938682	CV3549734	single nucleotide variant	NM_003042.4(SLC6A1):c.80C>G (p.Pro27Arg)	not provided [RCV004812774]	uncertain significance	3	11017291	11017291	Human		name
597833701	CV3735063	single nucleotide variant	NM_003042.4(SLC6A1):c.94G>A (p.Val32Ile)	not provided [RCV005054796]	uncertain significance	3	11017305	11017305	Human		name
597832014	CV3740100	single nucleotide variant	NM_003042.4(SLC6A1):c.621A>G (p.Pro207=)	Epilepsy with myoclonic atonic seizures [RCV005062799]	benign	3	11022375	11022375	Human	2	name
597832324	CV3786148	single nucleotide variant	NM_003042.4(SLC6A1):c.417C>T (p.Tyr139=)	Epilepsy with myoclonic atonic seizures [RCV005208480]	likely benign	3	11018644	11018644	Human	2	name
597832306	CV3792262	deletion	NM_003042.4(SLC6A1):c.209del (p.Phe70fs)	Epilepsy with myoclonic atonic seizures [RCV005208486]	pathogenic	3	11017419	11017419	Human	2	name
597832291	CV3810213	single nucleotide variant	NM_003042.4(SLC6A1):c.984G>T (p.Ser328=)	Epilepsy with myoclonic atonic seizures [RCV005208491]	likely benign	3	11026265	11026265	Human	2	name
597832276	CV3820202	single nucleotide variant	NM_003042.4(SLC6A1):c.336G>T (p.Gly112=)	Epilepsy with myoclonic atonic seizures [RCV005208496]	likely benign	3	11017940	11017940	Human	2	name
597832193	CV3833757	single nucleotide variant	NM_003042.4(SLC6A1):c.751C>T (p.Leu251=)	Epilepsy with myoclonic atonic seizures [RCV005208500]	likely benign	3	11025485	11025485	Human	2	name
597832100	CV3835562	single nucleotide variant	NM_003042.4(SLC6A1):c.30C>G (p.Asp10Glu)	Epilepsy with myoclonic atonic seizures [RCV005208502]	uncertain significance	3	11017241	11017241	Human	2	name
597832090	CV3835633	single nucleotide variant	NM_003042.4(SLC6A1):c.564T>A (p.Ala188=)	Epilepsy with myoclonic atonic seizures [RCV005208503]	likely benign	3	11020305	11020305	Human	2	name
597832124	CV3850019	single nucleotide variant	NM_003042.4(SLC6A1):c.609G>C (p.Gly203=)	Epilepsy with myoclonic atonic seizures [RCV005208513]	likely benign	3	11022363	11022363	Human	2	name
13477864	CV440738	single nucleotide variant	NM_003042.4(SLC6A1):c.651G>T (p.Thr217=)	Epilepsy with myoclonic atonic seizures [RCV005056111]\|Inborn genetic diseases [RCV002311840]\|not provided [RCV000516492]	benign	3	11022405	11022405	Human	3	name
13468549	CV451625	single nucleotide variant	NM_003042.4(SLC6A1):c.912C>T (p.Ile304=)	Epilepsy with myoclonic atonic seizures [RCV005056186]\|Inborn genetic diseases [RCV002315028]\|not provided [RCV000544573]	benign\|likely benign	3	11025835	11025835	Human	3	name
13491078	CV451631	single nucleotide variant	NM_003042.4(SLC6A1):c.999C>T (p.Phe333=)	Epilepsy with myoclonic atonic seizures [RCV005056187]\|Inborn genetic diseases [RCV002315029]\|not provided [RCV001692195]	benign\|likely benign	3	11026280	11026280	Human	3	name
13496960	CV451915	single nucleotide variant	NM_003042.4(SLC6A1):c.480G>T (p.Pro160=)	Epilepsy with myoclonic atonic seizures [RCV005056178]\|Inborn genetic diseases [RCV002311881]\|not provided [RCV000538207]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	11020221	11020221	Human	3	name
13484376	CV451917	single nucleotide variant	NM_003042.4(SLC6A1):c.561C>T (p.Ser187=)	Epilepsy with myoclonic atonic seizures [RCV005056182]	likely benign	3	11020302	11020302	Human	2	name
13491430	CV451953	single nucleotide variant	NM_003042.4(SLC6A1):c.801C>T (p.Gly267=)	Epilepsy with myoclonic atonic seizures [RCV005056185]\|Inborn genetic diseases [RCV002420522]\|not provided [RCV000534215]	benign\|likely benign	3	11025535	11025535	Human	3	name
13496256	CV451954	single nucleotide variant	NM_003042.4(SLC6A1):c.960C>T (p.Ser320=)	Epilepsy with myoclonic atonic seizures [RCV003444599]\|Inborn genetic diseases [RCV002311883]\|SLC6A1-related disorder [RCV004538083]\|not provided [RCV000713352]	benign\|likely benign	3	11026241	11026241	Human	3	name , alternate_id
13488484	CV452129	single nucleotide variant	NM_003042.4(SLC6A1):c.52A>G (p.Ser18Gly)	Epilepsy with myoclonic atonic seizures [RCV005056180]	benign\|uncertain significance	3	11017263	11017263	Human	2	name
13499207	CV452132	single nucleotide variant	NM_003042.4(SLC6A1):c.411C>T (p.Asn137=)	Epilepsy with myoclonic atonic seizures [RCV005056175]\|Inborn genetic diseases [RCV002315025]\|SLC6A1-related disorder [RCV004538080]\|not provided [RCV001724062]	benign	3	11018638	11018638	Human	3	name , alternate_id
13469967	CV452138	single nucleotide variant	NM_003042.4(SLC6A1):c.651G>A (p.Thr217=)	Epilepsy with myoclonic atonic seizures [RCV005056183]\|Inborn genetic diseases [RCV002315027]\|SLC6A1-related disorder [RCV004538082]\|not provided [RCV001613372]	benign\|likely benign	3	11022405	11022405	Human	3	name , alternate_id
13496771	CV452145	single nucleotide variant	NM_003042.4(SLC6A1):c.780G>A (p.Thr260=)	Epilepsy with myoclonic atonic seizures [RCV005056184]\|Inborn genetic diseases [RCV002311882]\|not provided [RCV000713351]	benign	3	11025514	11025514	Human	3	name
13624735	CV518697	single nucleotide variant	NM_003042.4(SLC6A1):c.37A>G (p.Ile13Val)	Epilepsy with myoclonic atonic seizures [RCV005056373]	uncertain significance	3	11017248	11017248	Human	2	name
13624762	CV518700	single nucleotide variant	NM_003042.4(SLC6A1):c.474A>C (p.Thr158=)	Epilepsy with myoclonic atonic seizures [RCV003444623]	likely benign	3	11020215	11020215	Human	2	name
13624758	CV518702	single nucleotide variant	NM_003042.4(SLC6A1):c.837G>C (p.Leu279=)	Epilepsy with myoclonic atonic seizures [RCV005056384]\|not provided [RCV001556880]	likely benign	3	11025571	11025571	Human	2	name
13624763	CV518704	single nucleotide variant	NM_003042.4(SLC6A1):c.885A>T (p.Ser295=)	Epilepsy with myoclonic atonic seizures [RCV005056380]\|Inborn genetic diseases [RCV002442356]\|not provided [RCV001613428]	benign\|likely benign	3	11025808	11025808	Human	3	name
13624757	CV518762	single nucleotide variant	NM_003042.4(SLC6A1):c.891G>A (p.Gly297=)	Epilepsy with myoclonic atonic seizures [RCV005056385]\|Inborn genetic diseases [RCV002317893]\|SLC6A1-related disorder [RCV004533416]\|not provided [RCV001563327]	likely benign	3	11025814	11025814	Human	3	name , alternate_id
13624741	CV518970	single nucleotide variant	NM_003042.4(SLC6A1):c.783G>A (p.Leu261=)	Epilepsy with myoclonic atonic seizures [RCV005056376]	likely benign	3	11025517	11025517	Human	2	name
13830172	CV578993	single nucleotide variant	NM_003042.4(SLC6A1):c.885A>C (p.Ser295=)	Epilepsy with myoclonic atonic seizures [RCV005056472]\|Inborn genetic diseases [RCV002316787]	likely benign	3	11025808	11025808	Human	3	name
13829130	CV579052	single nucleotide variant	NM_003042.4(SLC6A1):c.384G>A (p.Ala128=)	Epilepsy with myoclonic atonic seizures [RCV005056468]\|Inborn genetic diseases [RCV002314553]\|not provided [RCV003432752]	likely benign	3	11018611	11018611	Human	3	name
13828347	CV579056	single nucleotide variant	NM_003042.4(SLC6A1):c.492C>T (p.Cys164=)	Epilepsy with myoclonic atonic seizures [RCV005056465]\|Inborn genetic diseases [RCV002312361]\|not provided [RCV001692266]	benign\|likely benign	3	11020233	11020233	Human	3	name
13828453	CV579080	single nucleotide variant	NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)	Epilepsy with myoclonic atonic seizures [RCV003444659]\|Inborn genetic diseases [RCV002312450]\|not provided [RCV003128657]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	11017308	11017308	Human	3	name
13828350	CV579083	single nucleotide variant	NM_003042.4(SLC6A1):c.351G>A (p.Lys117=)	Epilepsy with myoclonic atonic seizures [RCV005056466]\|Inborn genetic diseases [RCV002312364]	likely benign	3	11017955	11017955	Human	3	name
14397199	CV612626	single nucleotide variant	NM_003042.4(SLC6A1):c.885A>G (p.Ser295=)	not provided [RCV000762364]	uncertain significance	3	11025808	11025808	Human		name
14710254	CV630736	single nucleotide variant	NM_003042.4(SLC6A1):c.471G>A (p.Thr157=)	Epilepsy with myoclonic atonic seizures [RCV005056559]	likely benign\|uncertain significance	3	11018698	11018698	Human	2	name
14702353	CV630739	single nucleotide variant	NM_003042.4(SLC6A1):c.711A>T (p.Gly237=)	Epilepsy with myoclonic atonic seizures [RCV005056580]	benign\|uncertain significance	3	11022465	11022465	Human	2	name
15188295	CV697744	single nucleotide variant	NM_003042.4(SLC6A1):c.603G>A (p.Thr201=)	Epilepsy with myoclonic atonic seizures [RCV005056704]	likely benign	3	11022357	11022357	Human	2	name
15174343	CV697745	single nucleotide variant	NM_003042.4(SLC6A1):c.846C>T (p.Ser282=)	Epilepsy with myoclonic atonic seizures [RCV005056701]\|Inborn genetic diseases [RCV002445100]\|not provided [RCV001664565]	benign\|likely benign	3	11025580	11025580	Human	3	name
15184584	CV733671	single nucleotide variant	NM_003042.4(SLC6A1):c.984G>A (p.Ser328=)	Epilepsy with myoclonic atonic seizures [RCV003444703]\|Inborn genetic diseases [RCV002382065]	likely benign	3	11026265	11026265	Human	3	name
15140828	CV747871	single nucleotide variant	NM_003042.4(SLC6A1):c.585C>T (p.Arg195=)	Epilepsy with myoclonic atonic seizures [RCV005056683]	likely benign	3	11022339	11022339	Human	2	name
15110050	CV747872	single nucleotide variant	NM_003042.4(SLC6A1):c.888C>T (p.Tyr296=)	Epilepsy with myoclonic atonic seizures [RCV005056677]\|Inborn genetic diseases [RCV002372547]	likely benign	3	11025811	11025811	Human	3	name
15101652	CV763510	single nucleotide variant	NM_003042.4(SLC6A1):c.354G>A (p.Leu118=)	Epilepsy with myoclonic atonic seizures [RCV005056693]\|Inborn genetic diseases [RCV002336955]	likely benign	3	11017958	11017958	Human	3	name
15176828	CV763511	single nucleotide variant	NM_003042.4(SLC6A1):c.381T>C (p.Leu127=)	Epilepsy with myoclonic atonic seizures [RCV005056689]\|not provided [RCV001539479]	likely benign	3	11018608	11018608	Human	2	name
15185339	CV763512	single nucleotide variant	NM_003042.4(SLC6A1):c.762G>A (p.Leu254=)	Epilepsy with myoclonic atonic seizures [RCV003444712]	likely benign	3	11025496	11025496	Human	2	name
15117529	CV781504	single nucleotide variant	NM_003042.4(SLC6A1):c.618G>A (p.Lys206=)	Epilepsy with myoclonic atonic seizures [RCV003444726]	likely benign	3	11022372	11022372	Human	2	name
15116274	CV781505	single nucleotide variant	NM_003042.4(SLC6A1):c.660C>T (p.Ile220=)	Epilepsy with myoclonic atonic seizures [RCV005056709]\|not provided [RCV005243441]	likely benign	3	11022414	11022414	Human	2	name
21071145	CV790314	single nucleotide variant	NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)	Epilepsy with myoclonic atonic seizures [RCV003444730]\|Inborn genetic diseases [RCV002320199]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	11017242	11017242	Human	3	name
21068451	CV795303	single nucleotide variant	NM_003042.4(SLC6A1):c.99G>C (p.Lys33Asn)	not provided [RCV000997990]	uncertain significance	3	11017310	11017310	Human		name
26898016	CV821881	single nucleotide variant	NM_003042.4(SLC6A1):c.660C>A (p.Ile220=)	Epilepsy with myoclonic atonic seizures [RCV005056800]\|Inborn genetic diseases [RCV002363545]\|not provided [RCV001310474]	benign\|likely benign	3	11022414	11022414	Human	3	name
26898198	CV821882	single nucleotide variant	NM_003042.4(SLC6A1):c.912C>A (p.Ile304=)	Epilepsy with myoclonic atonic seizures [RCV005056801]	benign	3	11025835	11025835	Human	2	name
26920494	CV827300	single nucleotide variant	NM_003042.4(SLC6A1):c.38T>C (p.Ile13Thr)	Epilepsy with myoclonic atonic seizures [RCV005056846]	benign\|uncertain significance	3	11017249	11017249	Human	2	name
38482973	CV931683	deletion	NM_003042.4(SLC6A1):c.197del (p.Asn66fs)	Epilepsy with myoclonic atonic seizures [RCV005057095]\|Inborn genetic diseases [RCV004963193]	pathogenic	3	11017407	11017407	Human	3	name
38489338	CV931688	single nucleotide variant	NM_003042.4(SLC6A1):c.993C>T (p.Ser331=)	Epilepsy with myoclonic atonic seizures [RCV005057101]	benign\|uncertain significance	3	11026274	11026274	Human	2	name
40903469	CV977195	single nucleotide variant	NM_003042.4(SLC6A1):c.75C>G (p.Asp25Glu)	Epilepsy with myoclonic atonic seizures [RCV003444813]	conflicting interpretations of pathogenicity\|uncertain significance	3	11017286	11017286	Human	2	name
126752221	CV989157	single nucleotide variant	NM_003042.4(SLC6A1):c.37A>T (p.Ile13Phe)	Epilepsy with myoclonic atonic seizures [RCV005057225]	uncertain significance	3	11017248	11017248	Human	2	name
126761884	CV1024907	single nucleotide variant	NM_003042.4(SLC6A1):c.194G>T (p.Gly65Val)	Epilepsy with myoclonic atonic seizures [RCV005057293]	uncertain significance	3	11017405	11017405	Human	2	name
126754452	CV1024908	single nucleotide variant	NM_003042.4(SLC6A1):c.252C>G (p.Ile84Met)	Epilepsy with myoclonic atonic seizures [RCV005057289]	uncertain significance	3	11017856	11017856	Human	2	name
126725594	CV1024912	single nucleotide variant	NM_003042.4(SLC6A1):c.1530C>T (p.Gly510=)	Epilepsy with myoclonic atonic seizures [RCV005057302]	uncertain significance	3	11034533	11034533	Human	2	name
127246331	CV1055280	single nucleotide variant	NM_003042.4(SLC6A1):c.223G>C (p.Gly75Arg)	Epilepsy with myoclonic atonic seizures [RCV005057349]	pathogenic\|likely pathogenic	3	11017434	11017434	Human	2	name
127260571	CV1059566	deletion	NM_003042.4(SLC6A1):c.566del (p.Val189fs)	Epilepsy with myoclonic atonic seizures [RCV003444855]	pathogenic	3	11020307	11020307	Human	2	name
127249024	CV1070172	single nucleotide variant	NM_003042.4(SLC6A1):c.1317C>T (p.Ile439=)	Epilepsy with myoclonic atonic seizures [RCV005057382]	likely benign	3	11029346	11029346	Human	2	name
127250988	CV1070174	single nucleotide variant	NM_003042.4(SLC6A1):c.1746T>C (p.Asn582=)	Epilepsy with myoclonic atonic seizures [RCV005057383]	likely benign	3	11036912	11036912	Human	2	name
127242659	CV1091917	single nucleotide variant	NM_003042.4(SLC6A1):c.1065T>C (p.Asp355=)	Epilepsy with myoclonic atonic seizures [RCV005057399]	likely benign	3	11026346	11026346	Human	2	name
127274984	CV1091918	single nucleotide variant	NM_003042.4(SLC6A1):c.1368T>C (p.Ser456=)	Epilepsy with myoclonic atonic seizures [RCV005057396]	likely benign	3	11031221	11031221	Human	2	name
127256694	CV1091919	single nucleotide variant	NM_003042.4(SLC6A1):c.1560G>A (p.Thr520=)	Epilepsy with myoclonic atonic seizures [RCV005057402]\|Inborn genetic diseases [RCV002405028]	likely benign	3	11034563	11034563	Human	3	name
127276727	CV1091920	single nucleotide variant	NM_003042.4(SLC6A1):c.1785G>A (p.Lys595=)	Epilepsy with myoclonic atonic seizures [RCV005057406]\|Inborn genetic diseases [RCV002414059]	likely benign	3	11036951	11036951	Human	3	name
127293309	CV1113415	single nucleotide variant	NM_003042.4(SLC6A1):c.1236C>T (p.Tyr412=)	Epilepsy with myoclonic atonic seizures [RCV005057432]	likely benign	3	11029265	11029265	Human	2	name
127329012	CV1113418	single nucleotide variant	NM_003042.4(SLC6A1):c.1686C>T (p.Ser562=)	Epilepsy with myoclonic atonic seizures [RCV005057425]	likely benign	3	11034689	11034689	Human	2	name
127335995	CV1134295	single nucleotide variant	NM_003042.4(SLC6A1):c.1023C>T (p.Ile341=)	Epilepsy with myoclonic atonic seizures [RCV005057448]	likely benign	3	11026304	11026304	Human	2	name
127332099	CV1134296	single nucleotide variant	NM_003042.4(SLC6A1):c.1032C>T (p.Phe344=)	Epilepsy with myoclonic atonic seizures [RCV005057443]	likely benign	3	11026313	11026313	Human	2	name
127320719	CV1134297	single nucleotide variant	NM_003042.4(SLC6A1):c.1096C>T (p.Leu366=)	Epilepsy with myoclonic atonic seizures [RCV005057442]	likely benign	3	11028752	11028752	Human	2	name
127307345	CV1134300	single nucleotide variant	NM_003042.4(SLC6A1):c.1644C>T (p.Ile548=)	Epilepsy with myoclonic atonic seizures [RCV003444891]	likely benign	3	11034647	11034647	Human	2	name
127337849	CV1134301	single nucleotide variant	NM_003042.4(SLC6A1):c.1647C>G (p.Pro549=)	Epilepsy with myoclonic atonic seizures [RCV005057449]	likely benign	3	11034650	11034650	Human	2	name
127287831	CV1163216	single nucleotide variant	NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys)	Epilepsy with myoclonic atonic seizures [RCV003444911]	likely pathogenic	3	11017443	11017443	Human	2	name
150338513	CV1174234	single nucleotide variant	NM_003042.4(SLC6A1):c.179A>C (p.Tyr60Ser)	Epilepsy with myoclonic atonic seizures [RCV003444914]	likely pathogenic	3	11017390	11017390	Human	2	name
150438086	CV1286789	single nucleotide variant	NM_003042.4(SLC6A1):c.182C>T (p.Ala61Val)	Epilepsy with myoclonic atonic seizures [RCV003444917]	uncertain significance	3	11017393	11017393	Human	2	name
150555147	CV1295964	single nucleotide variant	NM_003042.4(SLC6A1):c.268C>T (p.Leu90Phe)	not provided [RCV001772473]	uncertain significance	3	11017872	11017872	Human		name
150554086	CV1296469	single nucleotide variant	NM_003042.4(SLC6A1):c.242C>A (p.Ala81Asp)	Epilepsy with myoclonic atonic seizures [RCV005057578]\|not provided [RCV001770706]	likely pathogenic\|uncertain significance	3	11017846	11017846	Human	2	name
150540797	CV1298524	single nucleotide variant	NM_003042.4(SLC6A1):c.256T>A (p.Tyr86Asn)	not provided [RCV001760672]	uncertain significance	3	11017860	11017860	Human		name
150541424	CV1298787	single nucleotide variant	NM_003042.4(SLC6A1):c.164T>C (p.Met55Thr)	not provided [RCV001760935]	uncertain significance	3	11017375	11017375	Human		name
150555509	CV1304648	single nucleotide variant	NM_003042.4(SLC6A1):c.187G>C (p.Gly63Arg)	not provided [RCV001772896]	uncertain significance	3	11017398	11017398	Human		name
150556802	CV1305746	single nucleotide variant	NM_003042.4(SLC6A1):c.137C>T (p.Thr46Met)	Epilepsy with myoclonic atonic seizures [RCV005057599]\|not provided [RCV001774736]	likely benign\|uncertain significance	3	11017348	11017348	Human	2	name
151734721	CV1341122	deletion	NM_003042.4(SLC6A1):c.449del (p.Tyr150fs)	Epilepsy with myoclonic atonic seizures [RCV005057810]	pathogenic	3	11018676	11018676	Human	2	name
151750883	CV1360936	single nucleotide variant	NM_003042.4(SLC6A1):c.199G>A (p.Val67Ile)	Epilepsy with myoclonic atonic seizures [RCV005057706]	pathogenic	3	11017410	11017410	Human	2	name
151820811	CV1365371	single nucleotide variant	NM_003042.4(SLC6A1):c.115G>A (p.Ala39Thr)	Epilepsy with myoclonic atonic seizures [RCV005057728]	benign\|uncertain significance	3	11017326	11017326	Human	2	name
151827780	CV1396434	single nucleotide variant	NM_003042.4(SLC6A1):c.170G>A (p.Cys57Tyr)	Epilepsy with myoclonic atonic seizures [RCV005057718]	uncertain significance	3	11017381	11017381	Human	2	name
151772640	CV1417021	single nucleotide variant	NM_003042.4(SLC6A1):c.129C>A (p.Asp43Glu)	Epilepsy with myoclonic atonic seizures [RCV005057868]	likely benign\|uncertain significance	3	11017340	11017340	Human	2	name
151775911	CV1427102	single nucleotide variant	NM_003042.4(SLC6A1):c.224G>A (p.Gly75Glu)	Epilepsy with myoclonic atonic seizures [RCV005057917]	likely pathogenic	3	11017435	11017435	Human	2	name
151867457	CV1516480	single nucleotide variant	NM_003042.4(SLC6A1):c.292T>G (p.Phe98Val)	Epilepsy with myoclonic atonic seizures [RCV005057893]	uncertain significance	3	11017896	11017896	Human	2	name
152088449	CV1519434	single nucleotide variant	NM_003042.4(SLC6A1):c.268C>G (p.Leu90Val)	Epilepsy with myoclonic atonic seizures [RCV003444991]	uncertain significance	3	11017872	11017872	Human	2	name
152127647	CV1530638	single nucleotide variant	NM_003042.4(SLC6A1):c.1395C>T (p.Phe465=)	Epilepsy with myoclonic atonic seizures [RCV005057955]	likely benign	3	11031248	11031248	Human	2	name
152071874	CV1549242	single nucleotide variant	NM_003042.4(SLC6A1):c.1494C>T (p.Leu498=)	Epilepsy with myoclonic atonic seizures [RCV005058068]	likely benign	3	11033706	11033706	Human	2	name
152030135	CV1566026	single nucleotide variant	NM_003042.4(SLC6A1):c.1224G>A (p.Leu408=)	Epilepsy with myoclonic atonic seizures [RCV005058021]	likely benign	3	11029253	11029253	Human	2	name
152092649	CV1567819	single nucleotide variant	NM_003042.4(SLC6A1):c.1239C>T (p.Pro413=)	Epilepsy with myoclonic atonic seizures [RCV005058002]	likely benign	3	11029268	11029268	Human	2	name
152050504	CV1569060	single nucleotide variant	NM_003042.4(SLC6A1):c.1092G>C (p.Ala364=)	Epilepsy with myoclonic atonic seizures [RCV005058005]	likely benign	3	11028748	11028748	Human	2	name
152052283	CV1581034	single nucleotide variant	NM_003042.4(SLC6A1):c.1152C>T (p.Leu384=)	Epilepsy with myoclonic atonic seizures [RCV005058067]	likely benign	3	11028808	11028808	Human	2	name
152175254	CV1602135	single nucleotide variant	NM_003042.4(SLC6A1):c.1533G>A (p.Val511=)	Epilepsy with myoclonic atonic seizures [RCV005058116]	likely benign	3	11034536	11034536	Human	2	name
152105259	CV1622857	single nucleotide variant	NM_003042.4(SLC6A1):c.1578C>T (p.Asn526=)	Epilepsy with myoclonic atonic seizures [RCV005058007]	likely benign	3	11034581	11034581	Human	2	name
152150337	CV1625741	single nucleotide variant	NM_003042.4(SLC6A1):c.1392G>A (p.Val464=)	Epilepsy with myoclonic atonic seizures [RCV005058046]	likely benign	3	11031245	11031245	Human	2	name
152088439	CV1638911	single nucleotide variant	NM_003042.4(SLC6A1):c.1797C>A (p.Ile599=)	Epilepsy with myoclonic atonic seizures [RCV005058051]	likely benign	3	11036963	11036963	Human	2	name
152066049	CV1646950	single nucleotide variant	NM_003042.4(SLC6A1):c.1624C>T (p.Leu542=)	Epilepsy with myoclonic atonic seizures [RCV005058096]\|not provided [RCV004711870]	likely benign	3	11034627	11034627	Human	2	name
152049377	CV1657028	single nucleotide variant	NM_003042.4(SLC6A1):c.1512A>G (p.Thr504=)	Epilepsy with myoclonic atonic seizures [RCV005058140]	likely benign	3	11033724	11033724	Human	2	name
153347639	CV1692155	single nucleotide variant	NM_003042.4(SLC6A1):c.274T>A (p.Phe92Ile)	not provided [RCV002273640]	uncertain significance	3	11017878	11017878	Human		name
153348482	CV1692519	single nucleotide variant	NM_003042.4(SLC6A1):c.194G>A (p.Gly65Asp)	Neurodevelopmental delay [RCV002274373]	likely pathogenic	3	11017405	11017405	Human	1	name
155642909	CV1707555	single nucleotide variant	NM_003042.4(SLC6A1):c.218T>C (p.Leu73Pro)	Epilepsy with myoclonic atonic seizures [RCV003444255]	uncertain significance	3	11017429	11017429	Human	2	name
155644087	CV1708412	single nucleotide variant	NM_003042.4(SLC6A1):c.256T>C (p.Tyr86His)	Epilepsy with myoclonic atonic seizures [RCV003444256]	likely pathogenic	3	11017860	11017860	Human	2	name
155750143	CV1779631	single nucleotide variant	NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)	Epilepsy with myoclonic atonic seizures [RCV005058251]	uncertain significance	3	11017314	11017314	Human	2	name
155717705	CV1780629	deletion	NM_003042.4(SLC6A1):c.757del (p.Ile253fs)	Epilepsy with myoclonic atonic seizures [RCV003444263]	likely pathogenic	3	11025491	11025491	Human	2	name
155664735	CV1795471	single nucleotide variant	NM_003042.4(SLC6A1):c.1140C>T (p.Leu380=)	Epilepsy with myoclonic atonic seizures [RCV005058302]\|Inborn genetic diseases [RCV002452106]	likely benign	3	11028796	11028796	Human	3	name
155680989	CV1829610	single nucleotide variant	NM_003042.4(SLC6A1):c.1401A>G (p.Glu467=)	Epilepsy with myoclonic atonic seizures [RCV005058608]\|Inborn genetic diseases [RCV002389275]	likely benign	3	11031254	11031254	Human	3	name
155702286	CV1837592	single nucleotide variant	NM_003042.4(SLC6A1):c.160C>T (p.Leu54Phe)	Epilepsy with myoclonic atonic seizures [RCV005058657]\|Inborn genetic diseases [RCV002394814]	likely benign\|uncertain significance	3	11017371	11017371	Human	3	name
155674123	CV1855726	single nucleotide variant	NM_003042.4(SLC6A1):c.287C>T (p.Pro96Leu)	Inborn genetic diseases [RCV002437777]	uncertain significance	3	11017891	11017891	Human	1	name
155803044	CV1857911	single nucleotide variant	NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)	Epilepsy with myoclonic atonic seizures [RCV005058866]\|not provided [RCV002461761]	uncertain significance	3	11033739	11033739	Human	2	name
155795342	CV1861248	single nucleotide variant	NM_003042.4(SLC6A1):c.154G>A (p.Asp52Asn)	not provided [RCV002469529]	uncertain significance	3	11017365	11017365	Human		name
10047426	CV190155	single nucleotide variant	NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)	Autosomal dominant epilepsy [RCV003156080]\|Epilepsy with myoclonic atonic seizures [RCV003444212]\|not provided [RCV001092965]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	11017342	11017342	Human	3	name
156365241	CV1928685	single nucleotide variant	NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)	Epilepsy with myoclonic atonic seizures [RCV005059166]	uncertain significance	3	11017362	11017362	Human	2	name
156300869	CV1929633	single nucleotide variant	NM_003042.4(SLC6A1):c.1050G>A (p.Lys350=)	Epilepsy with myoclonic atonic seizures [RCV005059172]	likely benign	3	11026331	11026331	Human	2	name
156221920	CV1960277	single nucleotide variant	NM_003042.4(SLC6A1):c.250A>T (p.Ile84Phe)	Epilepsy with myoclonic atonic seizures [RCV003444278]	uncertain significance	3	11017854	11017854	Human	2	name
155943283	CV2051295	single nucleotide variant	NM_003042.4(SLC6A1):c.1359C>T (p.Tyr453=)	Epilepsy with myoclonic atonic seizures [RCV005059050]	likely benign	3	11031212	11031212	Human	2	name
156086004	CV2060528	single nucleotide variant	NM_003042.4(SLC6A1):c.1266C>T (p.Leu422=)	Epilepsy with myoclonic atonic seizures [RCV005059048]	likely benign	3	11029295	11029295	Human	2	name
156056266	CV2064869	single nucleotide variant	NM_003042.4(SLC6A1):c.1776C>T (p.Ser592=)	Epilepsy with myoclonic atonic seizures [RCV005059060]	likely benign	3	11036942	11036942	Human	2	name
156135494	CV2085806	single nucleotide variant	NM_003042.4(SLC6A1):c.1131C>A (p.Ile377=)	Epilepsy with myoclonic atonic seizures [RCV005059067]	likely benign	3	11028787	11028787	Human	2	name
156079150	CV2138082	single nucleotide variant	NM_003042.4(SLC6A1):c.1113G>A (p.Ala371=)	Epilepsy with myoclonic atonic seizures [RCV005059097]\|not provided [RCV003434542]	benign\|likely benign	3	11028769	11028769	Human	2	name
156111089	CV2140160	single nucleotide variant	NM_003042.4(SLC6A1):c.207G>C (p.Arg69Ser)	Epilepsy with myoclonic atonic seizures [RCV003444324]	uncertain significance	3	11017418	11017418	Human	2	name
156223689	CV2144340	single nucleotide variant	NM_003042.4(SLC6A1):c.215A>G (p.Tyr72Cys)	Epilepsy with myoclonic atonic seizures [RCV005059108]	uncertain significance	3	11017426	11017426	Human	2	name
156111173	CV2146134	single nucleotide variant	NM_003042.4(SLC6A1):c.1221C>T (p.Ala407=)	Epilepsy with myoclonic atonic seizures [RCV005059113]	likely benign	3	11029250	11029250	Human	2	name
156000376	CV2149391	deletion	NM_003042.4(SLC6A1):c.502del (p.Trp168fs)	Epilepsy with myoclonic atonic seizures [RCV005059112]	pathogenic	3	11020243	11020243	Human	2	name
156290368	CV2324899	single nucleotide variant	NM_003042.4(SLC6A1):c.163A>G (p.Met55Val)	Inborn genetic diseases [RCV002935561]	uncertain significance	3	11017374	11017374	Human	1	name
401905270	CV2795090	deletion	NM_003042.4(SLC6A1):c.362del (p.Met121fs)	Epilepsy with myoclonic atonic seizures [RCV003444387]	likely pathogenic	3	11017966	11017966	Human	2	name
401922109	CV2819905	single nucleotide variant	NM_003042.4(SLC6A1):c.266C>T (p.Thr89Ile)	not provided [RCV003433434]	uncertain significance	3	11017870	11017870	Human		name
401922116	CV2819912	single nucleotide variant	NM_003042.4(SLC6A1):c.1563A>G (p.Pro521=)	Epilepsy with myoclonic atonic seizures [RCV005208210]\|not provided [RCV003433441]	likely benign	3	11034566	11034566	Human	2	name
401946248	CV2839614	deletion	NM_003042.4(SLC6A1):c.982del (p.Ser328fs)	Epilepsy with myoclonic atonic seizures [RCV005062954]	not provided	3	11026262	11026262	Human		name
404999302	CV2851066	single nucleotide variant	NM_003042.4(SLC6A1):c.144G>C (p.Lys48Asn)	Epilepsy with myoclonic atonic seizures [RCV005062991]	uncertain significance	3	11017355	11017355	Human	2	name
405083880	CV2855016	single nucleotide variant	NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)	Epilepsy with myoclonic atonic seizures [RCV005062999]	uncertain significance	3	11017329	11017329	Human	2	name
405083373	CV2864216	single nucleotide variant	NM_003042.4(SLC6A1):c.179A>G (p.Tyr60Cys)	Epilepsy with myoclonic atonic seizures [RCV005062998]	uncertain significance	3	11017390	11017390	Human	2	name
405087301	CV2882063	single nucleotide variant	NM_003042.4(SLC6A1):c.1740A>G (p.Pro580=)	Epilepsy with myoclonic atonic seizures [RCV005063014]	likely benign	3	11036906	11036906	Human	2	name
405087499	CV2894163	single nucleotide variant	NM_003042.4(SLC6A1):c.1749T>C (p.Gly583=)	Epilepsy with myoclonic atonic seizures [RCV005063020]	likely benign	3	11036915	11036915	Human	2	name
405089277	CV2908115	single nucleotide variant	NM_003042.4(SLC6A1):c.170G>T (p.Cys57Phe)	Epilepsy with myoclonic atonic seizures [RCV005063038]	uncertain significance	3	11017381	11017381	Human	2	name
405090064	CV2920759	single nucleotide variant	NM_003042.4(SLC6A1):c.1077A>G (p.Ser359=)	Epilepsy with myoclonic atonic seizures [RCV005063043]	uncertain significance	3	11026358	11026358	Human	2	name
405092029	CV2933724	single nucleotide variant	NM_003042.4(SLC6A1):c.1326G>C (p.Gly442=)	Epilepsy with myoclonic atonic seizures [RCV005063054]	likely benign	3	11031179	11031179	Human	2	name
405059044	CV2942416	single nucleotide variant	NM_003042.4(SLC6A1):c.1608G>A (p.Val536=)	Epilepsy with myoclonic atonic seizures [RCV005063077]	likely benign	3	11034611	11034611	Human	2	name
405063260	CV2980087	single nucleotide variant	NM_003042.4(SLC6A1):c.1383G>A (p.Leu461=)	Epilepsy with myoclonic atonic seizures [RCV005063096]	likely benign	3	11031236	11031236	Human	2	name
405062153	CV2985963	single nucleotide variant	NM_003042.4(SLC6A1):c.1233G>A (p.Glu411=)	Epilepsy with myoclonic atonic seizures [RCV005063092]	likely benign	3	11029262	11029262	Human	2	name
405063481	CV2993469	single nucleotide variant	NM_003042.4(SLC6A1):c.1224G>C (p.Leu408=)	Epilepsy with myoclonic atonic seizures [RCV005063104]	likely benign	3	11029253	11029253	Human	2	name
405064041	CV2997106	single nucleotide variant	NM_003042.4(SLC6A1):c.1752T>C (p.Pro584=)	Epilepsy with myoclonic atonic seizures [RCV005063103]	likely benign	3	11036918	11036918	Human	2	name
405066964	CV3007069	single nucleotide variant	NM_003042.4(SLC6A1):c.1662C>T (p.Tyr554=)	Epilepsy with myoclonic atonic seizures [RCV005063119]	likely benign	3	11034665	11034665	Human	2	name
405064725	CV3008261	single nucleotide variant	NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)	Epilepsy with myoclonic atonic seizures [RCV005063109]	uncertain significance	3	11017354	11017354	Human	2	name
405065907	CV3013293	single nucleotide variant	NM_003042.4(SLC6A1):c.1297C>T (p.Leu433=)	Epilepsy with myoclonic atonic seizures [RCV005063115]	likely benign	3	11029326	11029326	Human	2	name
405066938	CV3018762	single nucleotide variant	NM_003042.4(SLC6A1):c.165G>A (p.Met55Ile)	Epilepsy with myoclonic atonic seizures [RCV005063122]	uncertain significance	3	11017376	11017376	Human	2	name
405071904	CV3050548	single nucleotide variant	NM_003042.4(SLC6A1):c.1326G>A (p.Gly442=)	Epilepsy with myoclonic atonic seizures [RCV005063134]	likely benign	3	11031179	11031179	Human	2	name
405202557	CV3129330	single nucleotide variant	NM_003042.4(SLC6A1):c.1380G>A (p.Leu460=)	Epilepsy with myoclonic atonic seizures [RCV005063182]	likely benign	3	11031233	11031233	Human	2	name
405701401	CV3225911	single nucleotide variant	NM_003042.4(SLC6A1):c.121C>T (p.Leu41Phe)	Epilepsy with myoclonic atonic seizures [RCV005064937]	uncertain significance	3	11017332	11017332	Human	2	name
405729917	CV3325886	single nucleotide variant	NM_003042.4(SLC6A1):c.109A>G (p.Lys37Glu)	Inborn genetic diseases [RCV004464199]	uncertain significance	3	11017320	11017320	Human	1	name
405729926	CV3325887	single nucleotide variant	NM_003042.4(SLC6A1):c.110A>C (p.Lys37Thr)	Inborn genetic diseases [RCV004464200]	uncertain significance	3	11017321	11017321	Human	1	name
405871885	CV3398121	single nucleotide variant	NM_003042.4(SLC6A1):c.1560G>T (p.Thr520=)	Epilepsy with myoclonic atonic seizures [RCV005208224]\|not provided [RCV004575122]	likely benign	3	11034563	11034563	Human	2	name
407425106	CV3411109	single nucleotide variant	NM_003042.4(SLC6A1):c.207G>T (p.Arg69Ser)	not provided [RCV004588799]	likely pathogenic	3	11017418	11017418	Human		name
407429815	CV3414284	deletion	NM_003042.4(SLC6A1):c.994del (p.Met332fs)	Epilepsy with myoclonic atonic seizures [RCV005059598]	likely pathogenic	3	11026275	11026275	Human	2	name
408393480	CV3526152	single nucleotide variant	NM_003042.4(SLC6A1):c.176G>A (p.Gly59Asp)	Epilepsy with myoclonic atonic seizures [RCV005061397]	likely pathogenic	3	11017387	11017387	Human	2	name
596922109	CV3529677	single nucleotide variant	NM_003042.4(SLC6A1):c.241G>A (p.Ala81Thr)	Epilepsy with myoclonic atonic seizures [RCV005061409]	likely pathogenic	3	11017845	11017845	Human	2	name
596922707	CV3530058	single nucleotide variant	NM_003042.4(SLC6A1):c.163A>C (p.Met55Leu)	not provided [RCV004776657]	uncertain significance	3	11017374	11017374	Human		name
12848993	CV368150	single nucleotide variant	NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser)	Epilepsy with myoclonic atonic seizures [RCV003444234]\|not provided [RCV000422208]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	11017398	11017398	Human	2	name
597934926	CV3759341	single nucleotide variant	NM_003042.4(SLC6A1):c.1222C>T (p.Leu408=)	Epilepsy with myoclonic atonic seizures [RCV005076461]	likely benign	3	11029251	11029251	Human	2	name
597832087	CV3785641	single nucleotide variant	NM_003042.4(SLC6A1):c.289C>A (p.Leu97Ile)	Epilepsy with myoclonic atonic seizures [RCV005208478]	uncertain significance	3	11017893	11017893	Human	2	name
597832300	CV3796614	single nucleotide variant	NM_003042.4(SLC6A1):c.220T>C (p.Cys74Arg)	Epilepsy with myoclonic atonic seizures [RCV005208488]	uncertain significance	3	11017431	11017431	Human	2	name
597832322	CV3796927	single nucleotide variant	NM_003042.4(SLC6A1):c.1209C>T (p.Gly403=)	Epilepsy with myoclonic atonic seizures [RCV005208481]	likely benign	3	11029238	11029238	Human	2	name
597832295	CV3810147	single nucleotide variant	NM_003042.4(SLC6A1):c.1386C>T (p.Phe462=)	Epilepsy with myoclonic atonic seizures [RCV005208490]	likely benign	3	11031239	11031239	Human	2	name
597832272	CV3830929	single nucleotide variant	NM_003042.4(SLC6A1):c.1698C>T (p.Arg566=)	Epilepsy with myoclonic atonic seizures [RCV005208497]	likely benign	3	11036864	11036864	Human	2	name
597832189	CV3838542	single nucleotide variant	NM_003042.4(SLC6A1):c.1389C>T (p.Leu463=)	Epilepsy with myoclonic atonic seizures [RCV005208501]	likely benign	3	11031242	11031242	Human	2	name
597832143	CV3855066	single nucleotide variant	NM_003042.4(SLC6A1):c.258T>A (p.Tyr86Ter)	Epilepsy with myoclonic atonic seizures [RCV005208516]	pathogenic	3	11017862	11017862	Human	2	name
597832104	CV3856217	single nucleotide variant	NM_003042.4(SLC6A1):c.1470C>T (p.Ser490=)	Epilepsy with myoclonic atonic seizures [RCV005208507]	likely benign	3	11033682	11033682	Human	2	name
597832113	CV3856814	single nucleotide variant	NM_003042.4(SLC6A1):c.236G>A (p.Gly79Glu)	Epilepsy with myoclonic atonic seizures [RCV005208510]	uncertain significance	3	11017447	11017447	Human	2	name
616933527	CV4013653	single nucleotide variant	NM_003042.4(SLC6A1):c.223G>T (p.Gly75Trp)	Epilepsy with myoclonic atonic seizures [RCV005411152]	likely pathogenic	3	11017434	11017434	Human	2	name
616938926	CV4015103	single nucleotide variant	NM_003042.4(SLC6A1):c.283G>T (p.Val95Phe)	Epilepsy with myoclonic atonic seizures [RCV005412120]	uncertain significance	3	11017887	11017887	Human	2	name
12894648	CV406077	single nucleotide variant	NM_003042.4(SLC6A1):c.196A>G (p.Asn66Asp)	not provided [RCV000483632]	likely pathogenic	3	11017407	11017407	Human		name
12895498	CV406078	single nucleotide variant	NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg)	Epilepsy with myoclonic atonic seizures [RCV003444552]\|not provided [RCV000486685]	pathogenic\|likely pathogenic	3	11017434	11017434	Human	2	name
12906889	CV414904	single nucleotide variant	NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg)	Epilepsy with myoclonic atonic seizures [RCV003444553]\|not provided [RCV000489777]	pathogenic\|likely pathogenic	3	11017446	11017446	Human	2	name
12914069	CV421410	single nucleotide variant	NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys)	Epilepsy with myoclonic atonic seizures [RCV005056077]\|not provided [RCV000494610]	likely benign\|uncertain significance	3	11017359	11017359	Human	2	name
13211559	CV425515	single nucleotide variant	NM_003042.4(SLC6A1):c.281G>A (p.Gly94Glu)	Epilepsy with myoclonic atonic seizures [RCV003444558]\|not provided [RCV000497611]	likely pathogenic	3	11017885	11017885	Human	2	name
13490039	CV443330	single nucleotide variant	NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp)	Epilepsy with myoclonic atonic seizures [RCV003444564]\|not provided [RCV000524089]	pathogenic\|likely pathogenic\|not provided	3	11017341	11017341	Human	2	name
13473570	CV443331	single nucleotide variant	NM_003042.4(SLC6A1):c.236G>T (p.Gly79Val)	not provided [RCV000519416]	likely pathogenic	3	11017447	11017447	Human		name
13469446	CV451632	single nucleotide variant	NM_003042.4(SLC6A1):c.1092G>A (p.Ala364=)	Epilepsy with myoclonic atonic seizures [RCV005056166]\|SLC6A1-related disorder [RCV004543227]\|not provided [RCV001576863]	benign\|likely benign	3	11028748	11028748	Human	2	name , alternate_id
13493562	CV451644	single nucleotide variant	NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=)	Epilepsy with myoclonic atonic seizures [RCV005056170]\|Inborn genetic diseases [RCV002395475]\|SLC6A1-related disorder [RCV004543230]\|not provided [RCV000997995]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	11033739	11033739	Human	3	name , alternate_id
13473073	CV451649	single nucleotide variant	NM_003042.4(SLC6A1):c.1650G>A (p.Gly550=)	Epilepsy with myoclonic atonic seizures [RCV003444582]	likely benign	3	11034653	11034653	Human	2	name
13494871	CV451908	single nucleotide variant	NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr)	Epilepsy with myoclonic atonic seizures [RCV003444580]\|not provided [RCV005231070]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	11017363	11017363	Human	2	name
13483105	CV451955	single nucleotide variant	NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=)	Epilepsy with myoclonic atonic seizures [RCV003444571]\|Inborn genetic diseases [RCV002311878]\|SLC6A1-related disorder [RCV004538078]\|not provided [RCV001662600]\|not specified [RCV001288763]	benign\|likely benign	3	11026283	11026283	Human	3	name , alternate_id
13484638	CV451962	single nucleotide variant	NM_003042.4(SLC6A1):c.1071G>A (p.Ala357=)	Epilepsy with myoclonic atonic seizures [RCV005056165]\|not provided [RCV001785660]	likely benign\|uncertain significance	3	11026352	11026352	Human	2	name
13494378	CV451982	single nucleotide variant	NM_003042.4(SLC6A1):c.1791C>G (p.Ala597=)	Epilepsy with myoclonic atonic seizures [RCV005056172]	likely benign	3	11036957	11036957	Human	2	name
13481211	CV452160	single nucleotide variant	NM_003042.4(SLC6A1):c.1647C>T (p.Pro549=)	Epilepsy with myoclonic atonic seizures [RCV005056171]\|Inborn genetic diseases [RCV002311880]\|SLC6A1-related disorder [RCV004538079]\|not provided [RCV000713349]	benign	3	11034650	11034650	Human	3	name , alternate_id
13509046	CV481671	single nucleotide variant	NM_003042.4(SLC6A1):c.222C>A (p.Cys74Ter)	not provided [RCV000578848]	pathogenic	3	11017433	11017433	Human		name
13624754	CV518707	single nucleotide variant	NM_003042.4(SLC6A1):c.1137A>G (p.Pro379=)	Epilepsy with myoclonic atonic seizures [RCV005056388]	likely benign	3	11028793	11028793	Human	2	name
13624755	CV518711	single nucleotide variant	NM_003042.4(SLC6A1):c.1248C>A (p.Leu416=)	Epilepsy with myoclonic atonic seizures [RCV005056387]	likely benign	3	11029277	11029277	Human	2	name
13624742	CV518924	single nucleotide variant	NM_003042.4(SLC6A1):c.1044C>T (p.Val348=)	Epilepsy with myoclonic atonic seizures [RCV005056377]\|Inborn genetic diseases [RCV002317892]\|not provided [RCV000652596]	benign\|likely benign	3	11026325	11026325	Human	3	name
13624743	CV518925	single nucleotide variant	NM_003042.4(SLC6A1):c.1335T>C (p.Tyr445=)	Epilepsy with myoclonic atonic seizures [RCV005056378]\|Inborn genetic diseases [RCV002386114]\|not provided [RCV001550345]	likely benign	3	11031188	11031188	Human	3	name
13624760	CV518972	single nucleotide variant	NM_003042.4(SLC6A1):c.1056C>G (p.Ser352=)	Epilepsy with myoclonic atonic seizures [RCV005056382]	likely benign	3	11026337	11026337	Human	2	name
13816500	CV558738	single nucleotide variant	NM_003042.4(SLC6A1):c.131G>C (p.Arg44Pro)	Epilepsy with myoclonic atonic seizures [RCV005056457]	likely pathogenic\|uncertain significance	3	11017342	11017342	Human	2	name
13801479	CV576710	single nucleotide variant	NM_003042.4(SLC6A1):c.1041T>C (p.His347=)	Epilepsy with myoclonic atonic seizures [RCV005056462]\|Inborn genetic diseases [RCV002317941]\|not provided [RCV000713347]	likely benign	3	11026322	11026322	Human	3	name
13830469	CV578994	single nucleotide variant	NM_003042.4(SLC6A1):c.1425C>T (p.Tyr475=)	Epilepsy with myoclonic atonic seizures [RCV005056475]\|Inborn genetic diseases [RCV002317587]\|not provided [RCV004808865]	likely benign\|uncertain significance	3	11031278	11031278	Human	3	name
14706379	CV630732	single nucleotide variant	NM_003042.4(SLC6A1):c.154G>T (p.Asp52Tyr)	Epilepsy with myoclonic atonic seizures [RCV005056581]	uncertain significance	3	11017365	11017365	Human	2	name
14709703	CV630733	single nucleotide variant	NM_003042.4(SLC6A1):c.271A>G (p.Ile91Val)	Epilepsy with myoclonic atonic seizures [RCV005056558]	likely benign\|uncertain significance	3	11017875	11017875	Human	2	name
14702745	CV653856	deletion	NM_003042.4(SLC6A1):c.801del (p.Ile268fs)	Epilepsy with myoclonic atonic seizures [RCV003444696]	likely pathogenic	3	11025535	11025535	Human	2	name
15182925	CV697746	single nucleotide variant	NM_003042.4(SLC6A1):c.1275T>G (p.Ala425=)	Epilepsy with myoclonic atonic seizures [RCV005056703]\|Inborn genetic diseases [RCV002372653]\|not provided [RCV000952341]	benign\|likely benign	3	11029304	11029304	Human	3	name
15131341	CV708461	single nucleotide variant	NM_003042.4(SLC6A1):c.1767G>A (p.Ala589=)	Epilepsy with myoclonic atonic seizures [RCV005056705]	likely benign	3	11036933	11036933	Human	2	name
15140105	CV733672	single nucleotide variant	NM_003042.4(SLC6A1):c.1731C>T (p.Ile577=)	Epilepsy with myoclonic atonic seizures [RCV003444701]	likely benign	3	11036897	11036897	Human	2	name
15140545	CV747873	single nucleotide variant	NM_003042.4(SLC6A1):c.1008C>T (p.Phe336=)	Epilepsy with myoclonic atonic seizures [RCV005056682]\|not provided [RCV003432917]	likely benign	3	11026289	11026289	Human	2	name
15162163	CV747874	single nucleotide variant	NM_003042.4(SLC6A1):c.1383G>C (p.Leu461=)	Epilepsy with myoclonic atonic seizures [RCV005056687]\|not provided [RCV004721680]	likely benign	3	11031236	11031236	Human	2	name
15132387	CV747875	single nucleotide variant	NM_003042.4(SLC6A1):c.1443T>C (p.Tyr481=)	Epilepsy with myoclonic atonic seizures [RCV005056680]	likely benign	3	11033655	11033655	Human	2	name
15195355	CV763513	single nucleotide variant	NM_003042.4(SLC6A1):c.1302C>T (p.Ile434=)	Epilepsy with myoclonic atonic seizures [RCV005056692]	likely benign	3	11029331	11029331	Human	2	name
15102206	CV763514	single nucleotide variant	NM_003042.4(SLC6A1):c.1722C>T (p.Ser574=)	Epilepsy with myoclonic atonic seizures [RCV005056694]\|Inborn genetic diseases [RCV002400059]\|not specified [RCV003987744]	likely benign	3	11036888	11036888	Human	3	name
15104618	CV781506	single nucleotide variant	NM_003042.4(SLC6A1):c.1083C>T (p.Pro361=)	Epilepsy with myoclonic atonic seizures [RCV005056707]\|not provided [RCV000976256]	likely benign	3	11028739	11028739	Human	2	name
15105429	CV781507	single nucleotide variant	NM_003042.4(SLC6A1):c.1683C>T (p.Gly561=)	Epilepsy with myoclonic atonic seizures [RCV003444724]	likely benign	3	11034686	11034686	Human	2	name
21074861	CV798516	single nucleotide variant	NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu)	Epilepsy with myoclonic atonic seizures [RCV003444733]	likely pathogenic	3	11017360	11017360	Human	2	name
21404653	CV801070	single nucleotide variant	NM_003042.4(SLC6A1):c.167C>T (p.Ser56Phe)	Global developmental delay [RCV001003581]	likely pathogenic	3	11017378	11017378	Human	2	name
26897566	CV821884	single nucleotide variant	NM_003042.4(SLC6A1):c.1435C>A (p.Arg479=)	Epilepsy with myoclonic atonic seizures [RCV005056798]\|Inborn genetic diseases [RCV002391088]	benign\|likely benign	3	11033647	11033647	Human	3	name
26904799	CV827302	single nucleotide variant	NM_003042.4(SLC6A1):c.144G>T (p.Lys48Asn)	Epilepsy with myoclonic atonic seizures [RCV005056835]\|Inborn genetic diseases [RCV002393253]	benign\|uncertain significance	3	11017355	11017355	Human	3	name
26898418	CV827305	duplication	NM_003042.4(SLC6A1):c.336dup (p.Leu113fs)	Epilepsy with myoclonic atonic seizures [RCV005056831]	pathogenic	3	11017934	11017935	Human	2	name
38484341	CV931681	single nucleotide variant	NM_003042.4(SLC6A1):c.127G>A (p.Asp43Asn)	Epilepsy with myoclonic atonic seizures [RCV005057098]	likely benign\|uncertain significance	3	11017338	11017338	Human	2	name
38475135	CV931682	single nucleotide variant	NM_003042.4(SLC6A1):c.149G>A (p.Arg50His)	Epilepsy with myoclonic atonic seizures [RCV005057090]	benign\|uncertain significance	3	11017360	11017360	Human	2	name
38483537	CV943251	single nucleotide variant	NM_003042.4(SLC6A1):c.169T>G (p.Cys57Gly)	Epilepsy with myoclonic atonic seizures [RCV005057134]	uncertain significance	3	11017380	11017380	Human	2	name
40887201	CV973321	single nucleotide variant	NM_003042.4(SLC6A1):c.233G>C (p.Gly78Ala)	Inborn genetic diseases [RCV001266675]	uncertain significance	3	11017444	11017444	Human	1	name
40890034	CV975088	single nucleotide variant	NM_003042.4(SLC6A1):c.155A>T (p.Asp52Val)	not provided [RCV001268604]	pathogenic	3	11017366	11017366	Human		name
40890035	CV975089	single nucleotide variant	NM_003042.4(SLC6A1):c.156C>G (p.Asp52Glu)	not provided [RCV001268605]	pathogenic	3	11017367	11017367	Human		name
40890036	CV975090	single nucleotide variant	NM_003042.4(SLC6A1):c.158T>C (p.Phe53Ser)	not provided [RCV001268606]	pathogenic	3	11017369	11017369	Human		name
41406637	CV982487	single nucleotide variant	NM_003042.4(SLC6A1):c.1545T>C (p.Ser515=)	not provided [RCV001288764]	likely benign	3	11034548	11034548	Human		name
126755702	CV989162	single nucleotide variant	NM_003042.4(SLC6A1):c.1080C>T (p.Gly360=)	Epilepsy with myoclonic atonic seizures [RCV005057227]	likely benign\|uncertain significance	3	11028736	11028736	Human	2	name
126730978	CV1000360	single nucleotide variant	NM_003042.4(SLC6A1):c.314G>T (p.Gly105Val)	not provided [RCV001310473]	uncertain significance	3	11017918	11017918	Human		name
126768532	CV1004409	single nucleotide variant	NM_003042.4(SLC6A1):c.904T>A (p.Ser302Thr)	Epilepsy with myoclonic atonic seizures [RCV005057258]	uncertain significance	3	11025827	11025827	Human	2	name
126771400	CV1004410	single nucleotide variant	NM_003042.4(SLC6A1):c.946G>A (p.Val316Ile)	Epilepsy with myoclonic atonic seizures [RCV005057261]	uncertain significance	3	11025869	11025869	Human	2	name
126764418	CV1024909	single nucleotide variant	NM_003042.4(SLC6A1):c.779C>T (p.Thr260Met)	Epilepsy with myoclonic atonic seizures [RCV005057296]\|not provided [RCV002225827]	likely benign\|uncertain significance	3	11025513	11025513	Human	2	name
126737198	CV1024910	single nucleotide variant	NM_003042.4(SLC6A1):c.983C>T (p.Ser328Leu)	Epilepsy with myoclonic atonic seizures [RCV005057304]	uncertain significance	3	11026264	11026264	Human	2	name
126924039	CV1041858	single nucleotide variant	NM_003042.4(SLC6A1):c.361A>G (p.Met121Val)	Epilepsy with myoclonic atonic seizures [RCV005057323]	uncertain significance	3	11017965	11017965	Human	2	name
126919937	CV1041859	single nucleotide variant	NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg)	Epilepsy with myoclonic atonic seizures [RCV005057337]\|Inborn genetic diseases [RCV002341808]	uncertain significance	3	11018679	11018679	Human	3	name
126921449	CV1041860	single nucleotide variant	NM_003042.4(SLC6A1):c.535A>T (p.Met179Leu)	Epilepsy with myoclonic atonic seizures [RCV005057320]\|Inborn genetic diseases [RCV004671371]	benign\|likely benign\|uncertain significance	3	11020276	11020276	Human	3	name
127263769	CV1059568	duplication	NM_003042.4(SLC6A1):c.1004dup (p.Phe336fs)	Epilepsy with myoclonic atonic seizures [RCV005057354]	pathogenic	3	11026283	11026284	Human	2	name
127282520	CV1070165	single nucleotide variant	NM_003042.4(SLC6A1):c.514C>T (p.Arg172Cys)	Epilepsy with myoclonic atonic seizures [RCV005057376]	likely benign	3	11020255	11020255	Human	2	name
127295231	CV1154271	single nucleotide variant	NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)	Epilepsy with myoclonic atonic seizures [RCV005057465]\|Inborn genetic diseases [RCV002359141]\|not provided [RCV004709046]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	11022360	11022360	Human	3	name
127286168	CV1161790	single nucleotide variant	NM_003042.4(SLC6A1):c.690G>A (p.Trp230Ter)	Intellectual disability [RCV001526570]	pathogenic	3	11022444	11022444	Human	2	name
150335545	CV1165636	single nucleotide variant	NM_003042.4(SLC6A1):c.673G>C (p.Val225Leu)	not provided [RCV001531564]	likely pathogenic\|uncertain significance	3	11022427	11022427	Human		name
150335548	CV1165637	single nucleotide variant	NM_003042.4(SLC6A1):c.940A>G (p.Asn314Asp)	not provided [RCV001531565]	uncertain significance	3	11025863	11025863	Human		name
150406494	CV1193211	single nucleotide variant	NM_003042.4(SLC6A1):c.996G>A (p.Met332Ile)	not provided [RCV001572035]	uncertain significance	3	11026277	11026277	Human		name
150438095	CV1286790	single nucleotide variant	NM_003042.4(SLC6A1):c.583C>A (p.Arg195Ser)	Epilepsy with myoclonic atonic seizures [RCV003444918]	uncertain significance	3	11022337	11022337	Human	2	name
150529214	CV1288768	single nucleotide variant	NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys)	Epilepsy with myoclonic atonic seizures [RCV005057552]\|not provided [RCV001727236]	uncertain significance	3	11018665	11018665	Human	2	name
150551072	CV1292468	single nucleotide variant	NM_003042.4(SLC6A1):c.953G>A (p.Arg318Lys)	not provided [RCV001754075]	uncertain significance	3	11025876	11025876	Human		name
150554353	CV1295778	single nucleotide variant	NM_003042.4(SLC6A1):c.722A>G (p.Tyr241Cys)	not provided [RCV001771008]	uncertain significance	3	11025456	11025456	Human		name
150556198	CV1296745	single nucleotide variant	NM_003042.4(SLC6A1):c.740C>G (p.Pro247Arg)	not provided [RCV001774035]	uncertain significance	3	11025474	11025474	Human		name
150555426	CV1297891	single nucleotide variant	NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)	Epilepsy with myoclonic atonic seizures [RCV003444922]\|not provided [RCV001772799]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	11018643	11018643	Human	2	name
150554538	CV1304245	single nucleotide variant	NM_003042.4(SLC6A1):c.823A>C (p.Asn275His)	not provided [RCV001771215]	uncertain significance	3	11025557	11025557	Human		name
150555591	CV1304740	single nucleotide variant	NM_003042.4(SLC6A1):c.431T>A (p.Ile144Asn)	not provided [RCV001772988]	uncertain significance	3	11018658	11018658	Human		name
150535837	CV1312060	single nucleotide variant	NM_003042.4(SLC6A1):c.956A>T (p.Asp319Val)	not provided [RCV001779871]	uncertain significance	3	11026237	11026237	Human		name
150544975	CV1315359	single nucleotide variant	NM_003042.4(SLC6A1):c.991A>G (p.Ser331Gly)	Epilepsy with myoclonic atonic seizures [RCV005057618]	likely pathogenic	3	11026272	11026272	Human	2	name
151233513	CV1317920	single nucleotide variant	NM_003042.4(SLC6A1):c.583C>T (p.Arg195Cys)	Epilepsy with myoclonic atonic seizures [RCV003444930]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	3	11022337	11022337	Human	2	name
151353370	CV1326471	single nucleotide variant	NM_003042.4(SLC6A1):c.464T>A (p.Phe155Tyr)	not provided [RCV001816336]	uncertain significance	3	11018691	11018691	Human		name
151851281	CV1349497	single nucleotide variant	NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter)	Epilepsy with myoclonic atonic seizures [RCV003444962]	pathogenic\|likely pathogenic	3	11025778	11025778	Human	2	name
151871148	CV1351763	single nucleotide variant	NM_003042.4(SLC6A1):c.700G>A (p.Gly234Ser)	Epilepsy with myoclonic atonic seizures [RCV005057870]	likely benign\|uncertain significance	3	11022454	11022454	Human	2	name
151803289	CV1354478	single nucleotide variant	NM_003042.4(SLC6A1):c.395T>C (p.Leu132Pro)	Epilepsy with myoclonic atonic seizures [RCV005057701]	uncertain significance	3	11018622	11018622	Human	2	name
151751219	CV1359224	single nucleotide variant	NM_003042.4(SLC6A1):c.862G>A (p.Ala288Thr)	Epilepsy with myoclonic atonic seizures [RCV005057851]	likely pathogenic	3	11025785	11025785	Human	2	name
151754951	CV1365451	single nucleotide variant	NM_003042.4(SLC6A1):c.589A>G (p.Met197Val)	Epilepsy with myoclonic atonic seizures [RCV005057729]	uncertain significance	3	11022343	11022343	Human	2	name
151758017	CV1375261	single nucleotide variant	NM_003042.4(SLC6A1):c.715G>A (p.Val239Met)	Epilepsy with myoclonic atonic seizures [RCV005057816]	uncertain significance	3	11025449	11025449	Human	2	name
151782878	CV1383548	single nucleotide variant	NM_003042.4(SLC6A1):c.994A>G (p.Met332Val)	Epilepsy with myoclonic atonic seizures [RCV005057713]	benign\|uncertain significance	3	11026275	11026275	Human	2	name
151714759	CV1388715	single nucleotide variant	NM_003042.4(SLC6A1):c.821C>G (p.Pro274Arg)	Epilepsy with myoclonic atonic seizures [RCV005057858]	uncertain significance	3	11025555	11025555	Human	2	name
151820662	CV1398256	single nucleotide variant	NM_003042.4(SLC6A1):c.469A>G (p.Thr157Ala)	Epilepsy with myoclonic atonic seizures [RCV003444980]	uncertain significance	3	11018696	11018696	Human	2	name
151793121	CV1411289	single nucleotide variant	NM_003042.4(SLC6A1):c.769C>T (p.Arg257Cys)	Epilepsy with myoclonic atonic seizures [RCV005057911]\|not provided [RCV004774603]	uncertain significance	3	11025503	11025503	Human	2	name
151862699	CV1420300	single nucleotide variant	NM_003042.4(SLC6A1):c.805C>T (p.Leu269Phe)	Epilepsy with myoclonic atonic seizures [RCV005057887]	uncertain significance	3	11025539	11025539	Human	2	name
151793331	CV1420435	single nucleotide variant	NM_003042.4(SLC6A1):c.400T>C (p.Phe134Leu)	Epilepsy with myoclonic atonic seizures [RCV005057933]	benign\|uncertain significance	3	11018627	11018627	Human	2	name
151711832	CV1474267	single nucleotide variant	NM_003042.4(SLC6A1):c.797A>G (p.Glu266Gly)	Epilepsy with myoclonic atonic seizures [RCV005057748]	uncertain significance	3	11025531	11025531	Human	2	name
151884302	CV1476887	single nucleotide variant	NM_003042.4(SLC6A1):c.299T>C (p.Leu100Pro)	Epilepsy with myoclonic atonic seizures [RCV005057750]	uncertain significance	3	11017903	11017903	Human	2	name
151816661	CV1482608	single nucleotide variant	NM_003042.4(SLC6A1):c.829C>A (p.Arg277Ser)	Epilepsy with myoclonic atonic seizures [RCV005057694]	likely benign\|uncertain significance	3	11025563	11025563	Human	2	name
151785998	CV1489886	single nucleotide variant	NM_003042.4(SLC6A1):c.799G>A (p.Gly267Ser)	Epilepsy with myoclonic atonic seizures [RCV005057782]	uncertain significance	3	11025533	11025533	Human	2	name
151723489	CV1494624	single nucleotide variant	NM_003042.4(SLC6A1):c.370G>A (p.Gly124Ser)	Epilepsy with myoclonic atonic seizures [RCV005057839]	pathogenic\|uncertain significance	3	11017974	11017974	Human	2	name
151800172	CV1509447	single nucleotide variant	NM_003042.4(SLC6A1):c.576C>A (p.Phe192Leu)	Epilepsy with myoclonic atonic seizures [RCV005057700]	uncertain significance	3	11020317	11020317	Human	2	name
152071000	CV1630654	single nucleotide variant	NM_003042.4(SLC6A1):c.538G>T (p.Val180Phe)	Epilepsy with myoclonic atonic seizures [RCV005058034]	benign	3	11020279	11020279	Human	2	name
152142767	CV1651378	single nucleotide variant	NM_003042.4(SLC6A1):c.539T>G (p.Val180Gly)	Epilepsy with myoclonic atonic seizures [RCV005058101]	benign	3	11020280	11020280	Human	2	name
152115378	CV1653540	single nucleotide variant	NM_003042.4(SLC6A1):c.829C>T (p.Arg277Cys)	Epilepsy with myoclonic atonic seizures [RCV005058109]\|Inborn genetic diseases [RCV004671660]\|not provided [RCV005424805]	benign\|uncertain significance	3	11025563	11025563	Human	3	name
152982532	CV1677462	single nucleotide variant	NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro)	Epilepsy with myoclonic atonic seizures [RCV003444245]	likely pathogenic	3	11025540	11025540	Human	2	name
153001202	CV1679937	single nucleotide variant	NM_003042.4(SLC6A1):c.418T>C (p.Tyr140His)	not provided [RCV002251616]	likely pathogenic	3	11018645	11018645	Human		name
153302761	CV1689601	single nucleotide variant	NM_003042.4(SLC6A1):c.836T>C (p.Leu279Pro)	Epilepsy with myoclonic atonic seizures [RCV003444251]	likely pathogenic	3	11025570	11025570	Human	2	name
153346331	CV1691656	single nucleotide variant	NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)	Epilepsy with myoclonic atonic seizures [RCV005058210]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	11022347	11022347	Human	2	name
155269020	CV1705850	single nucleotide variant	NM_003042.4(SLC6A1):c.888C>G (p.Tyr296Ter)	Epilepsy with myoclonic atonic seizures [RCV003444253]	pathogenic	3	11025811	11025811	Human	2	name
155641905	CV1709979	single nucleotide variant	NM_003042.4(SLC6A1):c.791C>T (p.Ala264Val)	not provided [RCV002293079]	uncertain significance	3	11025525	11025525	Human		name
155712863	CV1760255	single nucleotide variant	NM_003042.4(SLC6A1):c.998T>C (p.Phe333Ser)	not provided [RCV002300761]	uncertain significance	3	11026279	11026279	Human		name
155683193	CV1776800	single nucleotide variant	NM_003042.4(SLC6A1):c.538G>A (p.Val180Ile)	Epilepsy with myoclonic atonic seizures [RCV005058248]	benign\|uncertain significance	3	11020279	11020279	Human	2	name
155686395	CV1777624	single nucleotide variant	NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)	Epilepsy with myoclonic atonic seizures [RCV005058246]\|not provided [RCV003328695]	uncertain significance	3	11022385	11022385	Human	2	name
155720789	CV1781269	single nucleotide variant	NM_003042.4(SLC6A1):c.479C>G (p.Pro160Arg)	not provided [RCV002306345]	uncertain significance	3	11020220	11020220	Human		name
155668020	CV1799829	single nucleotide variant	NM_003042.4(SLC6A1):c.543C>A (p.Asn181Lys)	Epilepsy with myoclonic atonic seizures [RCV005058427]\|Inborn genetic diseases [RCV002349583]	benign\|uncertain significance	3	11020284	11020284	Human	3	name
155668356	CV1799884	single nucleotide variant	NM_003042.4(SLC6A1):c.544A>G (p.Thr182Ala)	Inborn genetic diseases [RCV002349638]\|not provided [RCV003154070]	uncertain significance	3	11020285	11020285	Human	1	name
155675879	CV1810365	single nucleotide variant	NM_003042.4(SLC6A1):c.553A>C (p.Met185Leu)	Inborn genetic diseases [RCV002351867]	likely benign	3	11020294	11020294	Human	1	name
155708309	CV1822648	single nucleotide variant	NM_003042.4(SLC6A1):c.703T>C (p.Trp235Arg)	Inborn genetic diseases [RCV002378282]	uncertain significance	3	11022457	11022457	Human	1	name
155729282	CV1823494	single nucleotide variant	NM_003042.4(SLC6A1):c.770G>A (p.Arg257His)	Inborn genetic diseases [RCV002400634]	uncertain significance	3	11025504	11025504	Human	1	name
155800288	CV1860103	single nucleotide variant	NM_003042.4(SLC6A1):c.896G>T (p.Gly299Val)	Epilepsy with myoclonic atonic seizures [RCV003444275]	likely pathogenic	3	11025819	11025819	Human	2	name
155798430	CV1861999	deletion	NM_003042.4(SLC6A1):c.1607del (p.Val536fs)	Epilepsy with myoclonic atonic seizures [RCV003444276]	pathogenic	3	11034610	11034610	Human	2	name
156158178	CV1872103	single nucleotide variant	NM_003042.4(SLC6A1):c.548C>T (p.Thr183Ile)	Epilepsy with myoclonic atonic seizures [RCV005059136]	uncertain significance	3	11020289	11020289	Human	2	name
156293085	CV1892045	single nucleotide variant	NM_003042.4(SLC6A1):c.434C>T (p.Ser145Phe)	Epilepsy with myoclonic atonic seizures [RCV005059146]	pathogenic	3	11018661	11018661	Human	2	name
10047427	CV190156	single nucleotide variant	NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)	Epilepsy with myoclonic atonic seizures [RCV003444213]\|not provided [RCV001268638]	pathogenic\|likely pathogenic	3	11025812	11025812	Human	2	name
10047430	CV190159	single nucleotide variant	NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)	Autism spectrum disorder [RCV002508925]\|Epilepsy with myoclonic atonic seizures [RCV003444216]\|Inborn genetic diseases [RCV000622292]\|not provided [RCV000414233]	pathogenic\|likely pathogenic\|not provided	3	11025786	11025786	Human	5	name
156037137	CV1932832	single nucleotide variant	NM_003042.4(SLC6A1):c.470C>T (p.Thr157Met)	Epilepsy with myoclonic atonic seizures [RCV003444358]	uncertain significance	3	11018697	11018697	Human	2	name
156397918	CV2009228	single nucleotide variant	NM_003042.4(SLC6A1):c.849G>C (p.Glu283Asp)	Epilepsy with myoclonic atonic seizures [RCV005058995]	uncertain significance	3	11025583	11025583	Human	2	name
156262495	CV2053800	single nucleotide variant	NM_003042.4(SLC6A1):c.452T>C (p.Leu151Pro)	Epilepsy with myoclonic atonic seizures [RCV005059049]	uncertain significance	3	11018679	11018679	Human	2	name
156291513	CV2055297	single nucleotide variant	NM_003042.4(SLC6A1):c.521T>C (p.Phe174Ser)	Epilepsy with myoclonic atonic seizures [RCV005059052]	uncertain significance	3	11020262	11020262	Human	2	name
156311059	CV2076297	single nucleotide variant	NM_003042.4(SLC6A1):c.323C>A (p.Thr108Asn)	Epilepsy with myoclonic atonic seizures [RCV005059063]	likely benign	3	11017927	11017927	Human	2	name
156226953	CV2097482	single nucleotide variant	NM_003042.4(SLC6A1):c.302A>C (p.Glu101Ala)	Epilepsy with myoclonic atonic seizures [RCV005059069]	pathogenic\|uncertain significance	3	11017906	11017906	Human	2	name
156104294	CV2107910	single nucleotide variant	NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)	Epilepsy with myoclonic atonic seizures [RCV005059082]\|not provided [RCV003332391]	conflicting interpretations of pathogenicity\|uncertain significance	3	11022356	11022356	Human	2	name
156011579	CV2124626	single nucleotide variant	NM_003042.4(SLC6A1):c.939C>A (p.His313Gln)	Epilepsy with myoclonic atonic seizures [RCV005059091]	uncertain significance	3	11025862	11025862	Human	2	name
156305472	CV2129744	single nucleotide variant	NM_003042.4(SLC6A1):c.856C>G (p.Leu286Val)	Epilepsy with myoclonic atonic seizures [RCV005059094]	uncertain significance	3	11025779	11025779	Human	2	name
155965981	CV2134839	single nucleotide variant	NM_003042.4(SLC6A1):c.968T>A (p.Val323Asp)	Epilepsy with myoclonic atonic seizures [RCV005059099]	uncertain significance	3	11026249	11026249	Human	2	name
156177188	CV2144848	single nucleotide variant	NM_003042.4(SLC6A1):c.773G>A (p.Gly258Glu)	Epilepsy with myoclonic atonic seizures [RCV005059110]	uncertain significance	3	11025507	11025507	Human	2	name
156031525	CV2156462	single nucleotide variant	NM_003042.4(SLC6A1):c.781C>G (p.Leu261Val)	Epilepsy with myoclonic atonic seizures [RCV005059111]	uncertain significance	3	11025515	11025515	Human	2	name
155979614	CV2157177	single nucleotide variant	NM_003042.4(SLC6A1):c.689G>A (p.Trp230Ter)	Epilepsy with myoclonic atonic seizures [RCV005059114]	pathogenic	3	11022443	11022443	Human	2	name
156359948	CV2162417	single nucleotide variant	NM_003042.4(SLC6A1):c.914C>T (p.Ala305Val)	Epilepsy with myoclonic atonic seizures [RCV005059118]	pathogenic	3	11025837	11025837	Human	2	name
156244046	CV2173573	single nucleotide variant	NM_003042.4(SLC6A1):c.985T>A (p.Cys329Ser)	Epilepsy with myoclonic atonic seizures [RCV005059125]	uncertain significance	3	11026266	11026266	Human	2	name
156162691	CV2246548	single nucleotide variant	NM_003042.4(SLC6A1):c.531C>G (p.Tyr177Ter)	Inborn genetic diseases [RCV002787588]	pathogenic	3	11020272	11020272	Human	1	name
156284541	CV2249850	single nucleotide variant	NM_003042.4(SLC6A1):c.467C>A (p.Thr156Asn)	Inborn genetic diseases [RCV002793294]	uncertain significance	3	11018694	11018694	Human	1	name
156440146	CV2401831	single nucleotide variant	NM_003042.4(SLC6A1):c.442A>T (p.Ile148Phe)	not provided [RCV003110119]	uncertain significance	3	11018669	11018669	Human		name
243050063	CV2403783	single nucleotide variant	NM_003042.4(SLC6A1):c.953G>T (p.Arg318Met)	Epilepsy with myoclonic atonic seizures [RCV003444371]	uncertain significance	3	11025876	11025876	Human	2	name
243053275	CV2404534	single nucleotide variant	NM_003042.4(SLC6A1):c.397T>C (p.Ser133Pro)	not provided [RCV003129561]	uncertain significance	3	11018624	11018624	Human		name
243060708	CV2408686	single nucleotide variant	NM_003042.4(SLC6A1):c.310C>G (p.Leu104Val)	Epilepsy with myoclonic atonic seizures [RCV005060968]	uncertain significance	3	11017914	11017914	Human	2	name
243052217	CV2417785	single nucleotide variant	NM_003042.4(SLC6A1):c.527A>G (p.Asn176Ser)	Epilepsy with myoclonic atonic seizures [RCV003444377]	uncertain significance	3	11020268	11020268	Human	2	name
243052592	CV2417941	single nucleotide variant	NM_003042.4(SLC6A1):c.739C>T (p.Pro247Ser)	Epilepsy with myoclonic atonic seizures [RCV003444378]	likely pathogenic	3	11025473	11025473	Human	2	name
243049416	CV2419462	single nucleotide variant	NM_003042.4(SLC6A1):c.593A>C (p.His198Pro)	Epilepsy with myoclonic atonic seizures [RCV005060994]\|See cases [RCV003156196]	likely pathogenic\|uncertain significance	3	11022347	11022347	Human	2	name
329352756	CV2476899	single nucleotide variant	NM_003042.4(SLC6A1):c.498C>G (p.Asn166Lys)	not provided [RCV003223131]	uncertain significance	3	11020239	11020239	Human		name
329954450	CV2669135	duplication	NM_003042.4(SLC6A1):c.1679dup (p.Ser562fs)	not provided [RCV003232968]	likely pathogenic	3	11034679	11034680	Human		name
401829665	CV2747507	single nucleotide variant	NM_003042.4(SLC6A1):c.866C>A (p.Ala289Glu)	not provided [RCV003328973]	uncertain significance	3	11025789	11025789	Human		name
401915850	CV2795366	single nucleotide variant	NM_003042.4(SLC6A1):c.559A>G (p.Ser187Gly)	Neurodevelopmental disorder [RCV003389201]	uncertain significance	3	11020300	11020300	Human	1	name
401922111	CV2819907	single nucleotide variant	NM_003042.4(SLC6A1):c.668T>A (p.Ile223Asn)	not provided [RCV003433436]	uncertain significance	3	11022422	11022422	Human		name
401922112	CV2819908	single nucleotide variant	NM_003042.4(SLC6A1):c.724T>G (p.Phe242Val)	not provided [RCV003433437]	uncertain significance	3	11025458	11025458	Human		name
405085530	CV2869659	single nucleotide variant	NM_003042.4(SLC6A1):c.803T>C (p.Ile268Thr)	Epilepsy with myoclonic atonic seizures [RCV005063011]\|not provided [RCV004765878]	uncertain significance	3	11025537	11025537	Human	2	name
405088286	CV2896129	single nucleotide variant	NM_003042.4(SLC6A1):c.316C>T (p.Gln106Ter)	Epilepsy with myoclonic atonic seizures [RCV005063031]	pathogenic	3	11017920	11017920	Human	2	name
405088662	CV2897052	single nucleotide variant	NM_003042.4(SLC6A1):c.676T>C (p.Tyr226His)	Epilepsy with myoclonic atonic seizures [RCV005063034]	likely benign	3	11022430	11022430	Human	2	name
405089306	CV2904370	single nucleotide variant	NM_003042.4(SLC6A1):c.492C>A (p.Cys164Ter)	Epilepsy with myoclonic atonic seizures [RCV005063039]	pathogenic	3	11020233	11020233	Human	2	name
405088701	CV2907538	single nucleotide variant	NM_003042.4(SLC6A1):c.830G>T (p.Arg277Leu)	Epilepsy with myoclonic atonic seizures [RCV005063035]	uncertain significance	3	11025564	11025564	Human	2	name
405091696	CV2923676	single nucleotide variant	NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)	Epilepsy with myoclonic atonic seizures [RCV005063052]	uncertain significance	3	11020247	11020247	Human	2	name
405061003	CV2963423	single nucleotide variant	NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)	Epilepsy with myoclonic atonic seizures [RCV005063080]	uncertain significance	3	11022360	11022360	Human	2	name
405060977	CV2972462	single nucleotide variant	NM_003042.4(SLC6A1):c.724T>A (p.Phe242Ile)	Epilepsy with myoclonic atonic seizures [RCV005063086]	uncertain significance	3	11025458	11025458	Human	2	name
405062559	CV2987780	single nucleotide variant	NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)	Epilepsy with myoclonic atonic seizures [RCV005063090]	uncertain significance	3	11020256	11020256	Human	2	name
405063219	CV2999936	single nucleotide variant	NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)	Epilepsy with myoclonic atonic seizures [RCV005063101]	uncertain significance	3	11020243	11020243	Human	2	name
405063735	CV3002795	single nucleotide variant	NM_003042.4(SLC6A1):c.743A>T (p.Tyr248Phe)	Epilepsy with myoclonic atonic seizures [RCV005063100]	uncertain significance	3	11025477	11025477	Human	2	name
405063936	CV3014569	single nucleotide variant	NM_003042.4(SLC6A1):c.988A>C (p.Thr330Pro)	Epilepsy with myoclonic atonic seizures [RCV005063108]	uncertain significance	3	11026269	11026269	Human	2	name
405073698	CV3064275	single nucleotide variant	NM_003042.4(SLC6A1):c.961A>G (p.Ile321Val)	Epilepsy with myoclonic atonic seizures [RCV005063143]	likely benign	3	11026242	11026242	Human	2	name
405729941	CV3325889	single nucleotide variant	NM_003042.4(SLC6A1):c.632G>A (p.Arg211His)	Inborn genetic diseases [RCV004464202]	uncertain significance	3	11022386	11022386	Human	1	name
405870293	CV3401528	single nucleotide variant	NM_003042.4(SLC6A1):c.383C>T (p.Ala128Val)	Seizure [RCV004577986]	pathogenic	3	11018610	11018610	Human	2	name
408393095	CV3525458	single nucleotide variant	NM_003042.4(SLC6A1):c.303G>T (p.Glu101Asp)	not provided [RCV004771344]	uncertain significance	3	11017907	11017907	Human		name
408392360	CV3528110	single nucleotide variant	NM_003042.4(SLC6A1):c.557C>G (p.Thr186Ser)	not provided [RCV004775878]	uncertain significance	3	11020298	11020298	Human		name
596922131	CV3529700	deletion	NM_003042.4(SLC6A1):c.1525del (p.Ala509fs)	Epilepsy with myoclonic atonic seizures [RCV005061410]	pathogenic	3	11033736	11033736	Human	2	name
596944906	CV3543560	single nucleotide variant	NM_003042.4(SLC6A1):c.643G>C (p.Ala215Pro)	not provided [RCV004801682]	uncertain significance	3	11022397	11022397	Human		name
596940272	CV3550861	single nucleotide variant	NM_003042.4(SLC6A1):c.901G>C (p.Gly301Arg)	not provided [RCV004814761]	uncertain significance	3	11025824	11025824	Human		name
597648394	CV3551715	single nucleotide variant	NM_003042.4(SLC6A1):c.584G>T (p.Arg195Leu)	not provided [RCV004820428]	uncertain significance	3	11022338	11022338	Human		name
597843663	CV3735962	single nucleotide variant	NM_003042.4(SLC6A1):c.560G>A (p.Ser187Asn)	not provided [RCV005065311]	uncertain significance	3	11020301	11020301	Human		name
597832174	CV3751294	single nucleotide variant	NM_003042.4(SLC6A1):c.557C>T (p.Thr186Ile)	Epilepsy with myoclonic atonic seizures [RCV005084840]	uncertain significance	3	11020298	11020298	Human	2	name
597832051	CV3763087	single nucleotide variant	NM_003042.4(SLC6A1):c.623G>A (p.Gly208Asp)	Epilepsy with myoclonic atonic seizures [RCV005208467]	uncertain significance	3	11022377	11022377	Human	2	name
597832054	CV3772979	single nucleotide variant	NM_003042.4(SLC6A1):c.542A>G (p.Asn181Ser)	Epilepsy with myoclonic atonic seizures [RCV005208468]	uncertain significance	3	11020283	11020283	Human	2	name
597832070	CV3776850	deletion	NM_003042.4(SLC6A1):c.1211del (p.Phe404fs)	Epilepsy with myoclonic atonic seizures [RCV005208473]	pathogenic	3	11029239	11029239	Human	2	name
597832073	CV3784281	single nucleotide variant	NM_003042.4(SLC6A1):c.925T>A (p.Tyr309Asn)	Epilepsy with myoclonic atonic seizures [RCV005208474]	uncertain significance	3	11025848	11025848	Human	2	name
597832083	CV3788008	single nucleotide variant	NM_003042.4(SLC6A1):c.349A>C (p.Lys117Gln)	Epilepsy with myoclonic atonic seizures [RCV005208477]	uncertain significance	3	11017953	11017953	Human	2	name
597832315	CV3797187	single nucleotide variant	NM_003042.4(SLC6A1):c.808T>C (p.Phe270Leu)	Epilepsy with myoclonic atonic seizures [RCV005208483]	uncertain significance	3	11025542	11025542	Human	2	name
597832287	CV3807059	single nucleotide variant	NM_003042.4(SLC6A1):c.607G>A (p.Gly203Arg)	Epilepsy with myoclonic atonic seizures [RCV005208492]	uncertain significance	3	11022361	11022361	Human	2	name
597832199	CV3834344	single nucleotide variant	NM_003042.4(SLC6A1):c.358C>T (p.Pro120Ser)	Epilepsy with myoclonic atonic seizures [RCV005208499]	uncertain significance	3	11017962	11017962	Human	2	name
597832331	CV3844594	single nucleotide variant	NM_003042.4(SLC6A1):c.661G>T (p.Ala221Ser)	Epilepsy with myoclonic atonic seizures [RCV005208506]	uncertain significance	3	11022415	11022415	Human	2	name
597832109	CV3856812	single nucleotide variant	NM_003042.4(SLC6A1):c.848A>C (p.Glu283Ala)	Epilepsy with myoclonic atonic seizures [RCV005208509]	uncertain significance	3	11025582	11025582	Human	2	name
597832121	CV3856817	single nucleotide variant	NM_003042.4(SLC6A1):c.743A>G (p.Tyr248Cys)	Epilepsy with myoclonic atonic seizures [RCV005208512]	uncertain significance	3	11025477	11025477	Human	2	name
597844977	CV3880343	single nucleotide variant	NM_003042.4(SLC6A1):c.491G>A (p.Cys164Tyr)	not provided [RCV005227231]	likely pathogenic	3	11020232	11020232	Human		name
598126624	CV3882079	single nucleotide variant	NM_003042.4(SLC6A1):c.851T>C (p.Val284Ala)	not provided [RCV005233630]	uncertain significance	3	11025774	11025774	Human		name
598127072	CV3882446	single nucleotide variant	NM_003042.4(SLC6A1):c.790G>T (p.Ala264Ser)	not provided [RCV005233998]	uncertain significance	3	11025524	11025524	Human		name
598125114	CV3883812	single nucleotide variant	NM_003042.4(SLC6A1):c.504G>T (p.Trp168Cys)	not provided [RCV005236167]	likely pathogenic	3	11020245	11020245	Human		name
598122277	CV3884307	single nucleotide variant	NM_003042.4(SLC6A1):c.931T>C (p.Ser311Pro)	not specified [RCV005236997]	uncertain significance	3	11025854	11025854	Human		name
598123169	CV3890228	single nucleotide variant	NM_003042.4(SLC6A1):c.782T>C (p.Leu261Pro)	not provided [RCV005250747]	uncertain significance	3	11025516	11025516	Human		name
598158777	CV3896966	single nucleotide variant	NM_003042.4(SLC6A1):c.739C>G (p.Pro247Ala)	not provided [RCV005367940]	pathogenic	3	11025473	11025473	Human		name
616936461	CV4009111	single nucleotide variant	NM_003042.4(SLC6A1):c.302A>G (p.Glu101Gly)	Epilepsy with myoclonic atonic seizures [RCV005402292]	pathogenic	3	11017906	11017906	Human	2	name
13610331	CV426663	single nucleotide variant	NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)	Epilepsy with myoclonic atonic seizures [RCV003444560]\|Self-limited epilepsy with centrotemporal spikes [RCV000655989]\|not specified [RCV002248734]	pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	11025564	11025564	Human	3	name
13481045	CV451911	single nucleotide variant	NM_003042.4(SLC6A1):c.305G>T (p.Cys102Phe)	Epilepsy with myoclonic atonic seizures [RCV005056173]	uncertain significance	3	11017909	11017909	Human	2	name
13797992	CV553165	single nucleotide variant	NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)	Epilepsy with myoclonic atonic seizures [RCV005056427]\|Intellectual disability [RCV000681507]	likely benign\|uncertain significance	3	11025798	11025798	Human	4	name
14691358	CV621947	single nucleotide variant	NM_003042.4(SLC6A1):c.738C>G (p.Tyr246Ter)	not provided [RCV000782084]	likely pathogenic	3	11025472	11025472	Human		name
14697763	CV625790	single nucleotide variant	NM_003042.4(SLC6A1):c.307T>C (p.Ser103Pro)	Epilepsy with myoclonic atonic seizures [RCV003444668]	uncertain significance	3	11017911	11017911	Human	2	name
14725251	CV630734	single nucleotide variant	NM_003042.4(SLC6A1):c.332G>T (p.Gly111Val)	Epilepsy with myoclonic atonic seizures [RCV003444671]	uncertain significance	3	11017936	11017936	Human	2	name
14740134	CV630735	single nucleotide variant	NM_003042.4(SLC6A1):c.373G>A (p.Val125Met)	Epilepsy with myoclonic atonic seizures [RCV005056573]	pathogenic\|uncertain significance	3	11018600	11018600	Human	2	name
14728616	CV630738	single nucleotide variant	NM_003042.4(SLC6A1):c.584G>A (p.Arg195His)	Epilepsy with myoclonic atonic seizures [RCV005056597]	benign\|uncertain significance	3	11022338	11022338	Human	2	name
14729926	CV630740	single nucleotide variant	NM_003042.4(SLC6A1):c.784C>T (p.Pro262Ser)	Epilepsy with myoclonic atonic seizures [RCV005056567]	likely benign\|uncertain significance	3	11025518	11025518	Human	2	name
14702178	CV630741	single nucleotide variant	NM_003042.4(SLC6A1):c.787G>A (p.Gly263Arg)	Epilepsy with myoclonic atonic seizures [RCV005056579]\|not provided [RCV001555450]	pathogenic\|uncertain significance	3	11025521	11025521	Human	2	name
14728192	CV630742	single nucleotide variant	NM_003042.4(SLC6A1):c.943A>G (p.Asn315Asp)	Epilepsy with myoclonic atonic seizures [RCV005056566]	uncertain significance	3	11025866	11025866	Human	2	name
14731713	CV630743	single nucleotide variant	NM_003042.4(SLC6A1):c.967G>T (p.Val323Phe)	Epilepsy with myoclonic atonic seizures [RCV005056599]	uncertain significance	3	11026248	11026248	Human	2	name
14712543	CV630746	duplication	NM_003042.4(SLC6A1):c.1335dup (p.Val446fs)	Epilepsy with myoclonic atonic seizures [RCV005056602]	pathogenic	3	11031187	11031188	Human	2	name
14746775	CV672046	single nucleotide variant	NM_003042.4(SLC6A1):c.884C>T (p.Ser295Leu)	Epilepsy with myoclonic atonic seizures [RCV003444697]\|SLC6A1-related disorder [RCV003325979]	uncertain significance\|not provided	3	11025807	11025807	Human	2	name , alternate_id
14746783	CV672047	deletion	NM_003042.4(SLC6A1):c.1222del (p.Leu408fs)	Epilepsy with myoclonic atonic seizures [RCV003444698]\|SLC6A1-related disorder [RCV003325980]\|not provided [RCV001008265]	pathogenic\|not provided	3	11029249	11029249	Human	2	name , alternate_id
14978485	CV677414	deletion	NM_003042.4(SLC6A1):c.1711del (p.Val571fs)	Epilepsy with myoclonic atonic seizures [RCV003444699]	pathogenic	3	11036876	11036876	Human	2	name
21067957	CV792990	single nucleotide variant	NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu)	Epilepsy with myoclonic atonic seizures [RCV005056726]\|Inborn genetic diseases [RCV004669184]\|not provided [RCV000993014]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	11017936	11017936	Human	3	name
21068455	CV795305	single nucleotide variant	NM_003042.4(SLC6A1):c.322A>G (p.Thr108Ala)	Epilepsy with myoclonic atonic seizures [RCV005056736]\|not provided [RCV000997992]	uncertain significance	3	11017926	11017926	Human	2	name
21068456	CV795306	single nucleotide variant	NM_003042.4(SLC6A1):c.738C>A (p.Tyr246Ter)	Epilepsy with myoclonic atonic seizures [RCV005208153]\|not provided [RCV000997993]	pathogenic\|likely pathogenic	3	11025472	11025472	Human	2	name
21404402	CV801984	single nucleotide variant	NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)	Epilepsy with myoclonic atonic seizures [RCV003444740]	likely pathogenic	3	11020259	11020259	Human	2	name
21404396	CV801985	single nucleotide variant	NM_003042.4(SLC6A1):c.832A>C (p.Lys278Gln)	Epilepsy with myoclonic atonic seizures [RCV003444738]	uncertain significance	3	11025566	11025566	Human	2	name
8625457	CV80580	single nucleotide variant	NM_003042.4(SLC6A1):c.313G>A (p.Gly105Ser)	not provided [RCV000413676]	likely pathogenic\|not provided	3	11017917	11017917	Human		name
26915186	CV827303	single nucleotide variant	NM_003042.4(SLC6A1):c.313G>T (p.Gly105Cys)	Epilepsy with myoclonic atonic seizures [RCV005056840]\|SLC6A1-related disorder [RCV004536109]	uncertain significance	3	11017917	11017917	Human	2	name , alternate_id
26919290	CV827304	single nucleotide variant	NM_003042.4(SLC6A1):c.314G>A (p.Gly105Asp)	Epilepsy with myoclonic atonic seizures [RCV005056843]	uncertain significance	3	11017918	11017918	Human	2	name
26889821	CV827306	single nucleotide variant	NM_003042.4(SLC6A1):c.386C>T (p.Ala129Val)	Epilepsy with myoclonic atonic seizures [RCV005056825]	uncertain significance	3	11018613	11018613	Human	2	name
26893658	CV827307	single nucleotide variant	NM_003042.4(SLC6A1):c.616A>G (p.Lys206Glu)	Epilepsy with myoclonic atonic seizures [RCV005056827]\|SLC6A1-related disorder [RCV004545027]\|not provided [RCV001593217]	benign\|likely benign\|uncertain significance	3	11022370	11022370	Human	2	name , alternate_id
26913137	CV827308	single nucleotide variant	NM_003042.4(SLC6A1):c.719T>C (p.Val240Ala)	Epilepsy with myoclonic atonic seizures [RCV005056839]	uncertain significance	3	11025453	11025453	Human	2	name
26909853	CV827309	single nucleotide variant	NM_003042.4(SLC6A1):c.929A>G (p.Asn310Ser)	Epilepsy with myoclonic atonic seizures [RCV005056838]	likely benign\|uncertain significance	3	11025852	11025852	Human	2	name
26918545	CV827310	single nucleotide variant	NM_003042.4(SLC6A1):c.930C>A (p.Asn310Lys)	Epilepsy with myoclonic atonic seizures [RCV005056842]	uncertain significance	3	11025853	11025853	Human	2	name
26919295	CV827316	deletion	NM_003042.4(SLC6A1):c.1640del (p.Leu547fs)	Epilepsy with myoclonic atonic seizures [RCV005056844]	uncertain significance	3	11034643	11034643	Human	2	name
28898504	CV859210	single nucleotide variant	NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met)	Epilepsy with myoclonic atonic seizures [RCV005056878]\|not provided [RCV001092966]	likely pathogenic\|uncertain significance	3	11022404	11022404	Human	2	name
28898536	CV859211	single nucleotide variant	NM_003042.4(SLC6A1):c.952A>G (p.Arg318Gly)	not provided [RCV001092967]	uncertain significance	3	11025875	11025875	Human		name
38487820	CV922985	single nucleotide variant	NM_003042.4(SLC6A1):c.553A>G (p.Met185Val)	Epilepsy with myoclonic atonic seizures [RCV005057117]	uncertain significance	3	11020294	11020294	Human	2	name
38467174	CV931684	single nucleotide variant	NM_003042.4(SLC6A1):c.578G>T (p.Trp193Leu)	Epilepsy with myoclonic atonic seizures [RCV005057088]	uncertain significance	3	11020319	11020319	Human	2	name
38483938	CV931685	single nucleotide variant	NM_003042.4(SLC6A1):c.704G>A (p.Trp235Ter)	Epilepsy with myoclonic atonic seizures [RCV005057096]	pathogenic	3	11022458	11022458	Human	2	name
38456495	CV931686	single nucleotide variant	NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys)	Epilepsy with myoclonic atonic seizures [RCV003444792]	likely benign\|uncertain significance	3	11025581	11025581	Human	2	name
38456352	CV931687	single nucleotide variant	NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu)	Epilepsy with myoclonic atonic seizures [RCV005057102]\|Inborn genetic diseases [RCV003294021]	uncertain significance	3	11025773	11025773	Human	3	name
38495929	CV943253	single nucleotide variant	NM_003042.4(SLC6A1):c.890G>T (p.Gly297Val)	Epilepsy with myoclonic atonic seizures [RCV005057124]	likely pathogenic\|uncertain significance	3	11025813	11025813	Human	2	name
38459520	CV953295	single nucleotide variant	NM_003042.4(SLC6A1):c.814A>G (p.Ile272Val)	Epilepsy with myoclonic atonic seizures [RCV005057150]\|Inborn genetic diseases [RCV004671298]	uncertain significance	3	11025548	11025548	Human	3	name
38597523	CV963531	single nucleotide variant	NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter)	Epilepsy with myoclonic atonic seizures [RCV003444808]	pathogenic	3	11018631	11018631	Human	2	name
38598249	CV964210	single nucleotide variant	NM_003042.4(SLC6A1):c.622G>C (p.Gly208Arg)	Epilepsy with myoclonic atonic seizures [RCV003444810]\|not provided [RCV005057165]	uncertain significance	3	11022376	11022376	Human	2	name
38598038	CV964211	single nucleotide variant	NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)	Epilepsy with myoclonic atonic seizures [RCV003444809]\|Inborn genetic diseases [RCV004035331]\|SLC6A1-related disorder [RCV004734084]\|not provided [RCV001587290]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	11025836	11025836	Human	3	name , alternate_id
40814235	CV966940	single nucleotide variant	NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)	Intellectual disability [RCV001257718]\|SLC6A1-related disorder [RCV004538543]	pathogenic\|likely pathogenic	3	11018646	11018646	Human	3	name , alternate_id
40814177	CV966941	single nucleotide variant	NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val)	Intellectual disability [RCV001257678]	likely pathogenic	3	11022449	11022449	Human	2	name
40815253	CV970749	single nucleotide variant	NM_003042.4(SLC6A1):c.866C>T (p.Ala289Val)	Epilepsy with myoclonic atonic seizures [RCV003444812]	uncertain significance	3	11025789	11025789	Human	2	name
150553483	CV1303486	single nucleotide variant	NM_003042.4(SLC6A1):c.1787A>G (p.Glu596Gly)	SLC6A1-related disorder [RCV004536296]\|not provided [RCV001769176]	uncertain significance	3	11036953	11036953	Human	1	alternate_id
401937692	CV2796817	single nucleotide variant	NM_003042.4(SLC6A1):c.1274C>T (p.Ala425Val)	Epilepsy with myoclonic atonic seizures [RCV005062887]\|SLC6A1-related disorder [RCV004528638]	benign\|uncertain significance	3	11029303	11029303	Human	2	alternate_id
401933704	CV2799499	indel	NM_003042.4(SLC6A1):c.695_696delinsTG (p.Gly232Val)	SLC6A1-related disorder [RCV004534285]	likely pathogenic	3	11022449	11022450	Human		trait , alternate_id
401906243	CV2799888	single nucleotide variant	NM_003042.4(SLC6A1):c.1188C>A (p.Ser396Arg)	SLC6A1-related disorder [RCV004536743]	likely pathogenic	3	11028844	11028844	Human		trait , alternate_id
13469127	CV451972	single nucleotide variant	NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)	Epilepsy with myoclonic atonic seizures [RCV003444575]\|Inborn genetic diseases [RCV002315024]\|SLC6A1-related disorder [RCV004543228]\|not provided [RCV000734754]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	11029279	11029279	Human	3	alternate_id
13624736	CV518980	single nucleotide variant	NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)	Epilepsy with myoclonic atonic seizures [RCV003444613]\|SLC6A1-related disorder [RCV004533415]\|not provided [RCV001092969]	pathogenic\|uncertain significance	3	11026351	11026351	Human	2	alternate_id
13819553	CV559271	single nucleotide variant	NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg)	Epilepsy with myoclonic atonic seizures [RCV003444642]\|SLC6A1-related disorder [RCV004535729]\|not provided [RCV001592884]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	3	11017935	11017935	Human	2	alternate_id
14719688	CV630744	single nucleotide variant	NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr)	Epilepsy with myoclonic atonic seizures [RCV005056590]\|SLC6A1-related disorder [RCV004528309]\|Seizure [RCV001003582]	likely pathogenic\|uncertain significance	3	11026281	11026281	Human	6	alternate_id
26908485	CV827315	single nucleotide variant	NM_003042.4(SLC6A1):c.1597G>C (p.Gly533Arg)	Epilepsy with myoclonic atonic seizures [RCV005056809]\|SLC6A1-related disorder [RCV003233930]	pathogenic\|uncertain significance\|not provided	3	11034600	11034600	Human	2	alternate_id
150442984	CV1266322	single nucleotide variant	NM_001003841.3(SLC6A19):c.-8C>T	SLC6A19-related disorder [RCV003921336]\|not provided [RCV001690758]	benign	5	1201643	1201643	Human	1	name , alternate_id
405709489	CV3225573	single nucleotide variant	NM_016615.5(SLC6A13):c.563+1G>A	not provided [RCV003990630]	likely pathogenic	12	237925	237925	Human		name
598204115	CV3896594	single nucleotide variant	NM_182632.3(SLC6A18):c.845+1G>A	SLC6A18-related condition [RCV005356810]	uncertain significance	5	1239563	1239563	Human		name , trait
597664098	CV3724849	single nucleotide variant	NM_001003841.3(SLC6A19):c.*16G>A	Neutral 1 amino acid transport defect [RCV005043134]	uncertain significance	5	1221920	1221920	Human	1	name
15195668	CV730325	single nucleotide variant	NM_182632.3(SLC6A18):c.1132-4G>A	not provided [RCV000889567]	benign	5	1243551	1243551	Human		name
15178144	CV744846	single nucleotide variant	NM_016615.5(SLC6A13):c.1686+7C>T	not provided [RCV000906807]	benign	12	221369	221369	Human		name
15097607	CV778639	single nucleotide variant	NM_007231.5(SLC6A14):c.1405-3T>C	not provided [RCV000958353]	benign	X	116454974	116454974	Human		name
150430620	CV1230970	single nucleotide variant	NM_001003841.3(SLC6A19):c.*152T>C	not provided [RCV001641519]	benign	5	1222056	1222056	Human		name
150511590	CV1284732	single nucleotide variant	NM_001003841.3(SLC6A19):c.*148C>T	not provided [RCV001721601]	benign	5	1222052	1222052	Human		name
405285573	CV3209647	single nucleotide variant	NM_007231.5(SLC6A14):c.1286-32A>C	SLC6A14-related disorder [RCV003959226]	likely benign	X	116454292	116454292	Human		name , trait , alternate_id
126731125	CV1019111	single nucleotide variant	NM_001010898.4(SLC6A17):c.754-4G>A	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome [RCV001333632]	uncertain significance	1	110176625	110176625	Human	1	name
126913482	CV1037595	single nucleotide variant	NM_001003841.3(SLC6A19):c.887+9G>A	Hyperglycinuria [RCV002486486]\|not provided [RCV001357408]	uncertain significance	5	1214074	1214074	Human	2	name
8577764	CV112141	single nucleotide variant	NM_014229.1(SLC6A11):c.624-2076T>C	Lung cancer [RCV000092664]	uncertain significance	3	10842138	10842138	Human		name
150334208	CV1164246	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+1G>A	Hyperglycinuria [RCV002476847]\|not provided [RCV001529406]	likely pathogenic	5	1213574	1213574	Human	2	name
151877055	CV1368770	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+6T>A	not provided [RCV001999066]	uncertain significance	5	1213579	1213579	Human		name
152042106	CV1553685	single nucleotide variant	NM_001003841.3(SLC6A19):c.775-4G>A	Hyperglycinuria [RCV002498293]\|not provided [RCV002088097]	benign\|likely benign	5	1213949	1213949	Human	2	name
152040779	CV1561877	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-4G>A	SLC6A19-related disorder [RCV003913567]\|not provided [RCV002188227]	likely benign	5	1213459	1213459	Human	1	name , alternate_id
152034903	CV1590244	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-6C>T	not provided [RCV002205424]	likely benign	5	1213457	1213457	Human		name
152070925	CV1638688	single nucleotide variant	NM_001003841.3(SLC6A19):c.887+8C>T	Hyperglycinuria [RCV002507934]\|not provided [RCV002075090]	likely benign	5	1214073	1214073	Human	2	name
152118398	CV1659024	single nucleotide variant	NM_001003841.3(SLC6A19):c.343+9C>T	not provided [RCV002175240]	likely benign	5	1208895	1208895	Human		name
156136106	CV1962927	single nucleotide variant	NM_001003841.3(SLC6A19):c.482-5C>A	Neutral 1 amino acid transport defect [RCV005042862]\|not provided [RCV002572401]	likely benign\|uncertain significance	5	1212298	1212298	Human	1	name
155984940	CV1979543	single nucleotide variant	NM_001003841.3(SLC6A19):c.888-8G>A	not provided [RCV002617767]	likely benign	5	1216550	1216550	Human		name
401854980	CV2752702	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+2T>G	Hyperglycinuria [RCV003337756]	likely pathogenic	5	1213575	1213575	Human	2	name
405188123	CV2964162	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+9C>T	not provided [RCV003676868]	likely benign	5	1213582	1213582	Human		name
402513093	CV2991206	single nucleotide variant	NM_001003841.3(SLC6A19):c.203-4G>T	not provided [RCV003689626]	likely benign	5	1208742	1208742	Human		name
405187216	CV3058822	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-5C>T	SLC6A19-related disorder [RCV003948989]\|not provided [RCV003729333]	likely benign	5	1213458	1213458	Human	1	name , alternate_id
405038694	CV3140930	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-1G>A	not provided [RCV003831223]	likely pathogenic	5	1213462	1213462	Human		name
405182289	CV3159539	single nucleotide variant	NM_001003841.3(SLC6A19):c.888-9C>T	not provided [RCV003858789]	likely benign	5	1216549	1216549	Human		name
402471117	CV3175256	single nucleotide variant	NM_001003841.3(SLC6A19):c.482-6C>T	Neutral 1 amino acid transport defect [RCV005038612]\|not provided [RCV003874188]	likely benign\|uncertain significance	5	1212297	1212297	Human	1	name
597663934	CV3724793	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+1G>C	Neutral 1 amino acid transport defect [RCV005043117]	likely pathogenic	5	1213574	1213574	Human	1	name
597893266	CV3785418	single nucleotide variant	NM_001003841.3(SLC6A19):c.343+7G>C	not provided [RCV005126004]	likely benign	5	1208893	1208893	Human		name
597867261	CV3861741	single nucleotide variant	NM_001003841.3(SLC6A19):c.663+1G>A	not provided [RCV005196882]	likely pathogenic	5	1212485	1212485	Human		name
13520873	CV495223	single nucleotide variant	NM_001003841.3(SLC6A19):c.482-2A>C	not provided [RCV000598992]	uncertain significance	5	1212301	1212301	Human		name
15157238	CV730322	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-8C>T	not provided [RCV000880784]	likely benign	5	1213455	1213455	Human		name
15190014	CV730323	single nucleotide variant	NM_001003841.3(SLC6A19):c.775-5C>T	not provided [RCV000887984]	benign\|likely benign	5	1213948	1213948	Human		name
15113985	CV779228	single nucleotide variant	NM_001003841.3(SLC6A19):c.888-3C>T	SLC6A19-related disorder [RCV003935945]\|not provided [RCV000961590]	benign	5	1216555	1216555	Human	1	name , alternate_id
127312083	CV1154878	single nucleotide variant	NM_001003841.3(SLC6A19):c.343+15G>A	not provided [RCV001518835]	benign	5	1208901	1208901	Human		name
127294270	CV1154879	single nucleotide variant	NM_001003841.3(SLC6A19):c.663+16G>A	not provided [RCV001511678]\|not specified [RCV001701177]	benign	5	1212500	1212500	Human		name
127314843	CV1154881	single nucleotide variant	NM_001003841.3(SLC6A19):c.1379-9G>C	SLC6A19-related disorder [RCV003980582]\|not provided [RCV001519774]	benign	5	1219496	1219496	Human	1	name , alternate_id
150409468	CV1175284	single nucleotide variant	NM_001003841.3(SLC6A19):c.887+84A>G	Neutral 1 amino acid transport defect [RCV001544068]\|not provided [RCV001713008]	benign	5	1214149	1214149	Human	1	name
150510324	CV1211566	single nucleotide variant	NM_001003841.3(SLC6A19):c.663+48C>T	Hyperglycinuria [RCV001810110]\|Neutral 1 amino acid transport defect [RCV001810109]\|not provided [RCV001597358]	benign	5	1212532	1212532	Human	3	name
150497802	CV1224030	single nucleotide variant	NM_001003841.3(SLC6A19):c.343+62A>T	not provided [RCV001620142]	benign	5	1208948	1208948	Human		name
150490318	CV1251005	single nucleotide variant	NM_001003841.3(SLC6A19):c.482-61C>A	not provided [RCV001674672]	benign	5	1212242	1212242	Human		name
150479701	CV1273512	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-51A>G	not provided [RCV001696716]	benign	5	1213412	1213412	Human		name
150462285	CV1276064	single nucleotide variant	NM_001003841.3(SLC6A19):c.202+33C>T	not provided [RCV001710003]	benign	5	1201885	1201885	Human		name
150511582	CV1284730	single nucleotide variant	NM_001003841.3(SLC6A19):c.481+93G>A	not provided [RCV001721599]	benign	5	1210674	1210674	Human		name
150511607	CV1284736	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-68C>T	not provided [RCV001721605]	benign	5	1213395	1213395	Human		name
8653879	CV130454	single nucleotide variant	NM_001122847.2(SLC6A12):c.579-56C>T	Lung cancer [RCV000110941]	uncertain significance	12	200839	200839	Human		name
152174534	CV1567261	single nucleotide variant	NM_001003841.3(SLC6A19):c.202+11C>T	not provided [RCV002163188]	likely benign	5	1201863	1201863	Human		name
152097135	CV1597594	single nucleotide variant	NM_001003841.3(SLC6A19):c.202+15C>T	not provided [RCV002114841]	likely benign	5	1201867	1201867	Human		name
152149857	CV1601514	single nucleotide variant	NM_001003841.3(SLC6A19):c.1701+7G>C	not provided [RCV002158011]	likely benign	5	1221320	1221320	Human		name
152165856	CV1612741	single nucleotide variant	NM_001003841.3(SLC6A19):c.1539-8C>T	not provided [RCV002160531]	likely benign	5	1221143	1221143	Human		name
152073987	CV1615556	single nucleotide variant	NM_001003841.3(SLC6A19):c.202+12G>A	Hyperglycinuria [RCV002486926]\|not provided [RCV002091971]	likely benign	5	1201864	1201864	Human	2	name
152149389	CV1616798	single nucleotide variant	NM_001003841.3(SLC6A19):c.202+16G>A	not provided [RCV002201734]	likely benign	5	1201868	1201868	Human		name
152148454	CV1618896	single nucleotide variant	NM_001003841.3(SLC6A19):c.481+12C>G	Hyperglycinuria [RCV002500212]\|not provided [RCV002121411]	likely benign	5	1210593	1210593	Human	2	name
152146086	CV1631421	single nucleotide variant	NM_001003841.3(SLC6A19):c.482-12C>T	not provided [RCV002157453]	benign	5	1212291	1212291	Human		name
152091045	CV1662109	single nucleotide variant	NM_001003841.3(SLC6A19):c.343+11C>T	Hyperglycinuria [RCV002494278]\|not provided [RCV002132048]	benign\|likely benign	5	1208897	1208897	Human	2	name
8556590	CV17060	single nucleotide variant	NM_001003841.3(SLC6A19):c.1017-4G>A	Hyperglycinuria [RCV000002099]\|Iminoglycinuria, digenic [RCV000002098]\|Neutral 1 amino acid transport defect [RCV001807719]\|not provided [RCV001519773]\|not specified [RCV001530131]	pathogenic\|benign	5	1216785	1216785	Human	3	name
156411357	CV1893134	single nucleotide variant	NM_001003841.3(SLC6A19):c.1017-5C>T	not provided [RCV003072445]	likely benign	5	1216784	1216784	Human		name
156206591	CV1922884	single nucleotide variant	NM_001003841.3(SLC6A19):c.1174-6G>A	not provided [RCV002643830]	likely benign	5	1218897	1218897	Human		name
156173561	CV1930289	single nucleotide variant	NM_001003841.3(SLC6A19):c.1173+4G>A	not provided [RCV002624792]	uncertain significance	5	1216949	1216949	Human		name
156391912	CV1964961	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-12C>T	not provided [RCV002583951]	likely benign	5	1213451	1213451	Human		name
156316533	CV1974948	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+19C>T	not provided [RCV002630095]	likely benign	5	1213592	1213592	Human		name
156414341	CV1986600	single nucleotide variant	NM_001003841.3(SLC6A19):c.775-17G>T	not provided [RCV002609155]	likely benign	5	1213936	1213936	Human		name
156157168	CV1987893	single nucleotide variant	NM_001003841.3(SLC6A19):c.481+18G>T	not provided [RCV002642272]	likely benign	5	1210599	1210599	Human		name
156126878	CV2005453	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-15T>C	not provided [RCV002663070]	likely benign	5	1213448	1213448	Human		name
156297332	CV2005454	single nucleotide variant	NM_001003841.3(SLC6A19):c.664-14C>T	not provided [RCV002671006]	likely benign	5	1213449	1213449	Human		name
156367042	CV2010828	single nucleotide variant	NM_001003841.3(SLC6A19):c.663+15C>T	not provided [RCV002676635]	likely benign	5	1212499	1212499	Human		name
156116861	CV2017060	single nucleotide variant	NM_001003841.3(SLC6A19):c.203-15C>A	not provided [RCV002740048]	likely benign	5	1208731	1208731	Human		name
155981842	CV2025297	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+11G>C	not provided [RCV002755363]	likely benign	5	1213584	1213584	Human		name
155990111	CV2026904	single nucleotide variant	NM_001003841.3(SLC6A19):c.482-16A>C	not provided [RCV002755713]	likely benign	5	1212287	1212287	Human		name
156051153	CV2068410	single nucleotide variant	NM_001003841.3(SLC6A19):c.887+11G>A	not provided [RCV002846441]	likely benign	5	1214076	1214076	Human		name
156341946	CV2103341	single nucleotide variant	NM_001003841.3(SLC6A19):c.203-10C>T	not provided [RCV002900525]	likely benign	5	1208736	1208736	Human		name
155938641	CV2110522	single nucleotide variant	NM_001003841.3(SLC6A19):c.775-11A>C	not provided [RCV002904314]	likely benign	5	1213942	1213942	Human		name
156248754	CV2156157	single nucleotide variant	NM_001003841.3(SLC6A19):c.344-18G>T	not provided [RCV003008369]	likely benign	5	1210426	1210426	Human		name
405070295	CV2944769	single nucleotide variant	NM_001003841.3(SLC6A19):c.1174-7C>T	not provided [RCV003663900]	likely benign	5	1218896	1218896	Human		name
405239597	CV2979730	single nucleotide variant	NM_001003841.3(SLC6A19):c.202+19G>C	not provided [RCV003683710]	likely benign	5	1201871	1201871	Human		name
405209284	CV3061992	single nucleotide variant	NM_001003841.3(SLC6A19):c.1378+5G>A	not provided [RCV003731759]	uncertain significance	5	1219112	1219112	Human		name
405181234	CV3119859	single nucleotide variant	NM_001003841.3(SLC6A19):c.344-16A>G	not provided [RCV003819952]	likely benign	5	1210428	1210428	Human		name
405193929	CV3128427	single nucleotide variant	NM_001003841.3(SLC6A19):c.887+16G>A	not provided [RCV003821164]	likely benign	5	1214081	1214081	Human		name
405101435	CV3148066	single nucleotide variant	NM_001003841.3(SLC6A19):c.1378+7G>C	not provided [RCV003852696]	likely benign	5	1219114	1219114	Human		name
405238985	CV3169663	single nucleotide variant	NM_001003841.3(SLC6A19):c.775-10T>C	not provided [RCV003866751]	likely benign	5	1213943	1213943	Human		name
405258014	CV3208022	single nucleotide variant	NM_001003841.3(SLC6A19):c.1702-3C>T	SLC6A19-related disorder [RCV003941483]	likely benign	5	1221698	1221698	Human		name , trait , alternate_id
407574062	CV3498411	single nucleotide variant	NM_001003841.3(SLC6A19):c.1173+2T>C	Neutral 1 amino acid transport defect [RCV004702886]\|not provided [RCV005059767]	pathogenic\|likely pathogenic	5	1216947	1216947	Human	1	name
597699429	CV3724772	single nucleotide variant	NM_001003841.3(SLC6A19):c.344-12G>A	Neutral 1 amino acid transport defect [RCV005033199]	uncertain significance	5	1210432	1210432	Human	1	name
597663875	CV3724774	single nucleotide variant	NM_001003841.3(SLC6A19):c.481+15G>A	Neutral 1 amino acid transport defect [RCV005043110]	uncertain significance	5	1210596	1210596	Human	1	name
597698845	CV3724798	single nucleotide variant	NM_001003841.3(SLC6A19):c.888-16C>G	Neutral 1 amino acid transport defect [RCV005033218]	uncertain significance	5	1216542	1216542	Human	1	name
597698443	CV3724803	single nucleotide variant	NM_001003841.3(SLC6A19):c.1017-5C>G	Neutral 1 amino acid transport defect [RCV005033222]	uncertain significance	5	1216784	1216784	Human	1	name
597839448	CV3737023	single nucleotide variant	NM_001003841.3(SLC6A19):c.1017-4G>T	not provided [RCV005064503]	likely benign	5	1216785	1216785	Human		name
597916936	CV3737453	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+11G>A	not provided [RCV005074242]	likely benign	5	1213584	1213584	Human		name
597862194	CV3745100	single nucleotide variant	NM_001003841.3(SLC6A19):c.343+12G>A	not provided [RCV005067456]	likely benign	5	1208898	1208898	Human		name
597934123	CV3750400	single nucleotide variant	NM_001003841.3(SLC6A19):c.202+12G>T	not provided [RCV005076325]	likely benign	5	1201864	1201864	Human		name
597973325	CV3820414	single nucleotide variant	NM_001003841.3(SLC6A19):c.1702-9T>C	not provided [RCV005167931]	likely benign	5	1221692	1221692	Human		name
617152799	CV4018410	single nucleotide variant	NM_001003841.3(SLC6A19):c.1016+1G>A	Neutral 1 amino acid transport defect [RCV005418670]	likely pathogenic	5	1216687	1216687	Human	1	name
13480008	CV443654	single nucleotide variant	NM_001003841.3(SLC6A19):c.1173+2T>G	Neutral 1 amino acid transport defect [RCV000002094]\|SLC6A19-related disorder [RCV003905313]\|not provided [RCV000521109]	pathogenic	5	1216947	1216947	Human	1	name , alternate_id
14696168	CV612428	single nucleotide variant	NM_001003841.3(SLC6A19):c.1701+1G>A	High myopia [RCV000785715]\|Hyperglycinuria [RCV001262680]\|Neutral 1 amino acid transport defect [RCV003989596]\|not provided [RCV002533872]\|not specified [RCV005418335]	likely pathogenic\|uncertain significance	5	1221314	1221314	Human	5	name
15127825	CV743633	single nucleotide variant	NM_001010898.4(SLC6A17):c.286+10A>G	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome [RCV001337077]\|not provided [RCV000897173]\|not specified [RCV001818723]	benign\|likely benign\|uncertain significance	1	110167225	110167225	Human	1	name
15199670	CV774969	single nucleotide variant	NM_001003841.3(SLC6A19):c.774+10C>T	Hyperglycinuria [RCV002505392]\|not provided [RCV000935169]	likely benign	5	1213583	1213583	Human	2	name
15159914	CV779612	single nucleotide variant	NM_001122848.3(SLC6A12):c.1326+9C>G	not provided [RCV000969800]	benign	12	196115	196115	Human		name
127305597	CV1154880	single nucleotide variant	NM_001003841.3(SLC6A19):c.1173+14G>A	not provided [RCV001516330]	benign	5	1216959	1216959	Human		name
150339398	CV1167338	single nucleotide variant	NM_001003841.3(SLC6A19):c.343+184C>G	not provided [RCV001534203]	benign	5	1209070	1209070	Human		name
150338889	CV1167339	single nucleotide variant	NM_001003841.3(SLC6A19):c.1173+52C>T	not provided [RCV001533837]	benign	5	1216997	1216997	Human		name
150409474	CV1175285	single nucleotide variant	NM_001003841.3(SLC6A19):c.1538+80C>T	Neutral 1 amino acid transport defect [RCV001544071]\|not provided [RCV001638149]	benign	5	1219744	1219744	Human	1	name
150409471	CV1175286	single nucleotide variant	NM_001003841.3(SLC6A19):c.1538+95G>A	Neutral 1 amino acid transport defect [RCV001544070]\|not provided [RCV001595103]	benign	5	1219759	1219759	Human	1	name
150409475	CV1175287	single nucleotide variant	NM_001003841.3(SLC6A19):c.1539-67T>C	Neutral 1 amino acid transport defect [RCV001544072]\|not provided [RCV001713009]	benign	5	1221084	1221084	Human	3	name
150409475	CV1175287	single nucleotide variant	NM_001003841.3(SLC6A19):c.1539-67T>C	Neutral 1 amino acid transport defect [RCV001544072]\|not provided [RCV001713009]	benign	5	1221084	1221085	Human	3	name
150434081	CV1230699	single nucleotide variant	NM_001003841.3(SLC6A19):c.202+175C>T	not provided [RCV001643645]	benign	5	1202027	1202027	Human		name
150474044	CV1252505	single nucleotide variant	NM_001003841.3(SLC6A19):c.1378+94C>T	not provided [RCV001671708]	benign	5	1219201	1219201	Human		name
150441783	CV1265610	single nucleotide variant	NM_001003841.3(SLC6A19):c.343+192C>G	not provided [RCV001679314]	benign	5	1209078	1209078	Human		name
150442442	CV1287724	single nucleotide variant	NM_001003841.3(SLC6A19):c.1174-90C>T	not provided [RCV001725445]	benign	5	1218813	1218813	Human		name
150533032	CV1308291	single nucleotide variant	NM_001003841.3(SLC6A19):c.1017-13A>G	not provided [RCV001753282]	conflicting interpretations of pathogenicity\|uncertain significance	5	1216776	1216776	Human		name
151874625	CV1466599	single nucleotide variant	NM_001003841.3(SLC6A19):c.1538+18G>T	Neutral 1 amino acid transport defect [RCV005040464]\|not provided [RCV001885703]	uncertain significance	5	1219682	1219682	Human	1	name
152169792	CV1546576	single nucleotide variant	NM_001003841.3(SLC6A19):c.1539-20G>C	Hyperglycinuria [RCV002508094]\|not provided [RCV002142904]	likely benign	5	1221131	1221131	Human	2	name
152079518	CV1596967	single nucleotide variant	NM_001003841.3(SLC6A19):c.1538+12G>A	not provided [RCV002092665]	likely benign	5	1219676	1219676	Human		name
152150849	CV1598176	single nucleotide variant	NM_001003841.3(SLC6A19):c.1701+18C>T	Hyperglycinuria [RCV002500232]\|not provided [RCV002121715]	likely benign	5	1221331	1221331	Human	2	name
152066993	CV1647107	single nucleotide variant	NM_001003841.3(SLC6A19):c.1173+20C>T	Hyperglycinuria [RCV002494434]\|not provided [RCV002129108]	likely benign	5	1216965	1216965	Human	2	name
152080515	CV1650105	single nucleotide variant	NM_001003841.3(SLC6A19):c.1016+15C>T	not provided [RCV002092780]	likely benign	5	1216701	1216701	Human		name
152053084	CV1665147	single nucleotide variant	NM_001003841.3(SLC6A19):c.1379-14C>T	not provided [RCV002089400]	likely benign	5	1219491	1219491	Human		name
156396886	CV1959092	single nucleotide variant	NM_001003841.3(SLC6A19):c.1173+13C>T	not provided [RCV002584445]	likely benign	5	1216958	1216958	Human		name
156385479	CV1961204	single nucleotide variant	NM_001003841.3(SLC6A19):c.1538+11C>T	not provided [RCV002583454]	likely benign	5	1219675	1219675	Human		name
156041684	CV1967156	single nucleotide variant	NM_001003841.3(SLC6A19):c.1538+17G>A	not provided [RCV002590347]	likely benign	5	1219681	1219681	Human		name
156378709	CV1971585	single nucleotide variant	NM_001003841.3(SLC6A19):c.1701+19G>A	not provided [RCV002603804]	likely benign	5	1221332	1221332	Human		name
156163975	CV1986039	single nucleotide variant	NM_001003841.3(SLC6A19):c.1378+14C>T	not provided [RCV002642510]	likely benign	5	1219121	1219121	Human		name
156185757	CV1997766	single nucleotide variant	NM_001003841.3(SLC6A19):c.1539-17G>A	not provided [RCV002643163]	likely benign	5	1221134	1221134	Human		name
156124773	CV2021201	single nucleotide variant	NM_001003841.3(SLC6A19):c.1538+13G>A	not provided [RCV002740336]	likely benign	5	1219677	1219677	Human		name
156348322	CV2052063	single nucleotide variant	NM_001003841.3(SLC6A19):c.1017-19G>C	not provided [RCV002811594]	likely benign	5	1216770	1216770	Human		name
401858798	CV2753235	single nucleotide variant	NM_001010898.4(SLC6A17):c.1816-10C>T	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome [RCV003341598]	benign	1	110198066	110198066	Human	1	name
401923671	CV2820354	single nucleotide variant	NM_001003841.3(SLC6A19):c.1016+32G>A	not provided [RCV003435253]	likely benign	5	1216718	1216718	Human		name
402470176	CV2931091	single nucleotide variant	NM_001003841.3(SLC6A19):c.1174-14T>C	not provided [RCV003570176]	likely benign	5	1218889	1218889	Human		name
404980480	CV3006092	single nucleotide variant	NM_001003841.3(SLC6A19):c.1539-10G>T	not provided [RCV003691133]	likely benign	5	1221141	1221141	Human		name
597665695	CV3724811	single nucleotide variant	NM_001003841.3(SLC6A19):c.1174-16T>A	Neutral 1 amino acid transport defect [RCV005043123]	uncertain significance	5	1218887	1218887	Human	1	name
597698617	CV3724844	single nucleotide variant	NM_001003841.3(SLC6A19):c.1702-17T>G	Neutral 1 amino acid transport defect [RCV005033247]	uncertain significance	5	1221684	1221684	Human	1	name
597892387	CV3743835	single nucleotide variant	NM_001003841.3(SLC6A19):c.1701+16G>A	not provided [RCV005071305]	likely benign	5	1221329	1221329	Human		name
597887786	CV3804364	single nucleotide variant	NM_001003841.3(SLC6A19):c.1174-11C>G	not provided [RCV005150815]	likely benign	5	1218892	1218892	Human		name
597918884	CV3842500	single nucleotide variant	NM_001003841.3(SLC6A19):c.1702-10C>G	not provided [RCV005183985]	likely benign	5	1221691	1221691	Human		name
8574849	CV109186	single nucleotide variant	NM_001010898.2(SLC6A17):c.-88+4622G>T	Lung cancer [RCV000089711]	uncertain significance	1	110155505	110155505	Human		name
150477142	CV1218584	single nucleotide variant	NM_001003841.3(SLC6A19):c.1174-156C>A	not provided [RCV001616211]	benign	5	1218747	1218747	Human		name
150449688	CV1260854	single nucleotide variant	NM_001003841.3(SLC6A19):c.1173+163G>C	not provided [RCV001680523]	benign	5	1217108	1217108	Human		name
150476002	CV1239818	deletion	NM_001003841.3(SLC6A19):c.775-60_775-58del	not provided [RCV001651995]	benign	5	1213891	1213893	Human		name
152077249	CV1604700	deletion	NM_001003841.3(SLC6A19):c.343+37_343+75del	not provided [RCV002092388]	benign	5	1208904	1208942	Human		name
8556588	CV17056	single nucleotide variant	SLC6A19, IVS8, T-G, +2	Neutral 1 amino acid transport defect [RCV000002094]	pathogenic				Human		name
152114733	CV1600247	single nucleotide variant	NM_001003841.3(SLC6A19):c.195C>T (p.His65=)	Hyperglycinuria [RCV002507948]\|SLC6A19-related disorder [RCV003958636]\|not provided [RCV002097320]	likely benign	5	1201845	1201845	Human	4	alternate_id
152152932	CV1623312	single nucleotide variant	NM_001003841.3(SLC6A19):c.1599G>C (p.Thr533=)	SLC6A19-related disorder [RCV003978581]\|not provided [RCV002221095]	likely benign	5	1221211	1221211	Human	1	alternate_id
8595590	CV17058	single nucleotide variant	NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)	Hyperglycinuria [RCV000763127]\|Neutral 1 amino acid transport defect [RCV000002096]\|SLC6A19-related disorder [RCV003415626]\|not provided [RCV000413766]\|not specified [RCV001170020]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	5	1212338	1212338	Human	12	alternate_id
8595590	CV17058	single nucleotide variant	NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)	Hyperglycinuria [RCV000763127]\|Neutral 1 amino acid transport defect [RCV000002096]\|SLC6A19-related disorder [RCV003415626]\|not provided [RCV000413766]\|not specified [RCV001170020]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	5	1212338	1212339	Human	12	alternate_id
156030974	CV1910782	single nucleotide variant	NM_001003841.3(SLC6A19):c.738C>T (p.Gly246=)	SLC6A19-related disorder [RCV003946305]\|not provided [RCV002619851]	likely benign	5	1213537	1213537	Human	1	alternate_id
405287079	CV3193081	single nucleotide variant	NM_001003841.3(SLC6A19):c.595C>T (p.Leu199=)	SLC6A19-related disorder [RCV003981739]\|not provided [RCV005103086]	likely benign	5	1212416	1212416	Human	1	alternate_id
405292754	CV3193120	single nucleotide variant	NM_001010898.4(SLC6A17):c.1908C>T (p.Phe636=)	SLC6A17-related disorder [RCV003964689]	likely benign	1	110198168	110198168	Human		trait , alternate_id
405255915	CV3208386	single nucleotide variant	NM_001010898.4(SLC6A17):c.2013T>C (p.Asp671=)	SLC6A17-related disorder [RCV003939491]	likely benign	1	110198273	110198273	Human		trait , alternate_id
405283235	CV3216990	single nucleotide variant	NM_001010898.4(SLC6A17):c.2049G>A (p.Glu683=)	SLC6A17-related disorder [RCV003979138]	benign	1	110198309	110198309	Human		trait , alternate_id
408384757	CV3503485	deletion	NM_001010898.4(SLC6A17):c.2036_2062del (p.Lys679_Pro687del)	SLC6A17-related disorder [RCV004732084]	uncertain significance	1	110198294	110198320	Human		trait , alternate_id
408366558	CV3512050	single nucleotide variant	NM_001003841.3(SLC6A19):c.1734C>T (p.Tyr578=)	SLC6A19-related disorder [RCV004756821]	likely benign	5	1221733	1221733	Human		trait , alternate_id
408367712	CV3512329	single nucleotide variant	NM_001010898.4(SLC6A17):c.518A>G (p.Gln173Arg)	SLC6A17-related disorder [RCV004759131]\|not specified [RCV004867939]	uncertain significance	1	110174046	110174046	Human	1	alternate_id
15157137	CV698747	single nucleotide variant	NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=)	Hyperglycinuria [RCV002502906]\|SLC6A19-related disorder [RCV003960588]\|not provided [RCV000946829]	benign\|likely benign	5	1201767	1201767	Human	4	alternate_id
15137818	CV709585	single nucleotide variant	NM_001003841.3(SLC6A19):c.1002C>T (p.Asp334=)	SLC6A19-related disorder [RCV003916193]\|not provided [RCV000965684]	benign	5	1216672	1216672	Human	1	alternate_id
15155230	CV721184	single nucleotide variant	NM_001003841.3(SLC6A19):c.1737G>A (p.Pro579=)	SLC6A19-related disorder [RCV003967976]\|not provided [RCV000880376]	likely benign	5	1221736	1221736	Human	1	alternate_id
15197492	CV745560	single nucleotide variant	NM_001010898.4(SLC6A17):c.1545C>T (p.Ser515=)	SLC6A17-related disorder [RCV003923173]\|not provided [RCV000911988]	likely benign	1	110195638	110195638	Human	1	alternate_id
15149645	CV749161	single nucleotide variant	NM_001003841.3(SLC6A19):c.1158C>T (p.Asn386=)	SLC6A19-related disorder [RCV003933120]\|not provided [RCV000923325]	likely benign	5	1216930	1216930	Human	1	alternate_id
15110521	CV764752	single nucleotide variant	NM_001003841.3(SLC6A19):c.219G>A (p.Pro73=)	SLC6A19-related disorder [RCV003933201]\|not provided [RCV000938569]	likely benign	5	1208762	1208762	Human	1	alternate_id
34891254	CV906011	single nucleotide variant	NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter)	Hyperglycinuria [RCV001536072]\|Neutral 1 amino acid transport defect [RCV001174897]\|SLC6A19-related disorder [RCV003413970]\|not provided [RCV001873654]	pathogenic	5	1212353	1212353	Human	4	alternate_id
598259515	CV3911513	single nucleotide variant	NM_014229.3(SLC6A11):c.45T>C (p.Ala15=)	not specified [RCV005279598]	likely benign	3	10816310	10816310	Human		name
329371355	CV2458091	single nucleotide variant	NM_014037.3(SLC6A16):c.14C>T (p.Ala5Val)	not specified [RCV004271916]	uncertain significance	19	49311334	49311334	Human		name
150529285	CV1288842	single nucleotide variant	NM_001003841.3(SLC6A19):c.27C>T (p.Pro9=)	not provided [RCV001727310]	likely benign	5	1201677	1201677	Human		name
152029280	CV1568213	single nucleotide variant	NM_001003841.3(SLC6A19):c.12C>T (p.Leu4=)	not provided [RCV002105532]	likely benign	5	1201662	1201662	Human		name
156119428	CV2275813	single nucleotide variant	NM_014037.3(SLC6A16):c.61G>T (p.Val21Leu)	not specified [RCV004139482]	uncertain significance	19	49311287	49311287	Human		name
156053536	CV2320389	single nucleotide variant	NM_007231.5(SLC6A14):c.55T>G (p.Ser19Ala)	not specified [RCV004178548]	uncertain significance	X	116437796	116437796	Human		name
156174901	CV2326977	single nucleotide variant	NM_182632.3(SLC6A18):c.32C>T (p.Ala11Val)	not specified [RCV004176784]	likely benign	5	1225509	1225509	Human		name
156101769	CV2352217	single nucleotide variant	NM_014037.3(SLC6A16):c.66T>G (p.Ile22Met)	not specified [RCV004200698]	uncertain significance	19	49311282	49311282	Human		name
156093424	CV2389697	single nucleotide variant	NM_182632.3(SLC6A18):c.55C>T (p.Pro19Ser)	not specified [RCV004243746]	uncertain significance	5	1225532	1225532	Human		name
401747349	CV2679075	single nucleotide variant	NM_014229.3(SLC6A11):c.94G>A (p.Gly32Ser)	not specified [RCV004295071]	uncertain significance	3	10816359	10816359	Human		name
401751402	CV2696547	single nucleotide variant	NM_014229.3(SLC6A11):c.71C>T (p.Pro24Leu)	not specified [RCV004312604]	likely benign	3	10816336	10816336	Human		name
401751405	CV2696548	single nucleotide variant	NM_014229.3(SLC6A11):c.88A>G (p.Ser30Gly)	not specified [RCV004312605]	uncertain significance	3	10816353	10816353	Human		name
401921617	CV2826844	single nucleotide variant	NM_007231.5(SLC6A14):c.795A>G (p.Val265=)	not provided [RCV003432431]	likely benign	X	116446746	116446746	Human		name
405262785	CV3185034	single nucleotide variant	NM_014229.3(SLC6A11):c.987C>T (p.Asn329=)	not provided [RCV003885598]	benign	3	10912185	10912185	Human		name
405730236	CV3325925	single nucleotide variant	NM_007231.5(SLC6A14):c.99T>G (p.Asn33Lys)	not specified [RCV004464239]	uncertain significance	X	116437840	116437840	Human		name
407451873	CV3481000	single nucleotide variant	NM_014229.3(SLC6A11):c.73G>C (p.Gly25Arg)	not specified [RCV004683830]	uncertain significance	3	10816338	10816338	Human		name
598259595	CV3911531	single nucleotide variant	NM_182767.6(SLC6A15):c.38A>G (p.Asp13Gly)	not specified [RCV005279614]	uncertain significance	12	84892083	84892083	Human		name
598259608	CV3911534	single nucleotide variant	NM_182767.6(SLC6A15):c.44A>G (p.Asp15Gly)	not specified [RCV005279616]	uncertain significance	12	84892077	84892077	Human		name
15167880	CV708458	single nucleotide variant	NM_014229.3(SLC6A11):c.774G>A (p.Ala258=)	not provided [RCV000971493]	benign	3	10874978	10874978	Human		name
15106181	CV709597	single nucleotide variant	NM_182632.3(SLC6A18):c.471C>T (p.Ala157=)	not provided [RCV000960026]	benign	5	1235512	1235512	Human		name
15153666	CV709598	single nucleotide variant	NM_182632.3(SLC6A18):c.825T>C (p.Phe275=)	not provided [RCV000968589]	benign	5	1239542	1239542	Human		name
15120946	CV717606	single nucleotide variant	NM_007231.5(SLC6A14):c.456A>G (p.Pro152=)	not provided [RCV000962804]	benign	X	116442796	116442796	Human		name
15163049	CV717608	single nucleotide variant	NM_007231.5(SLC6A14):c.999A>G (p.Leu333=)	not provided [RCV000970398]	benign	X	116451510	116451510	Human		name
15192012	CV721188	single nucleotide variant	NM_182632.3(SLC6A18):c.672C>T (p.Leu224=)	not provided [RCV000888542]	benign	5	1238000	1238000	Human		name
126914491	CV1038863	single nucleotide variant	NM_007231.5(SLC6A14):c.145A>G (p.Met49Val)	not provided [RCV001358301]	uncertain significance	X	116437886	116437886	Human		name
152035547	CV1604202	single nucleotide variant	NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=)	Hyperglycinuria [RCV002493997]\|not provided [RCV002087147]	benign\|likely benign	5	1201698	1201698	Human	2	name
152156640	CV1627002	single nucleotide variant	NM_001003841.3(SLC6A19):c.4G>T (p.Val2Leu)	not provided [RCV002103052]	likely benign	5	1201654	1201654	Human		name
152096811	CV1627969	single nucleotide variant	NM_001003841.3(SLC6A19):c.36C>T (p.Asp12=)	not provided [RCV002195030]	likely benign	5	1201686	1201686	Human		name
155959735	CV2078649	single nucleotide variant	NM_001003841.3(SLC6A19):c.84G>A (p.Glu28=)	not provided [RCV002880960]	likely benign	5	1201734	1201734	Human		name
155944661	CV2143217	single nucleotide variant	NM_001003841.3(SLC6A19):c.72C>T (p.Ile24=)	not provided [RCV002994272]	likely benign	5	1201722	1201722	Human		name
156374873	CV2194897	single nucleotide variant	NM_016615.5(SLC6A13):c.226G>A (p.Val76Ile)	not specified [RCV004075427]	likely benign	12	243790	243790	Human		name
155975117	CV2235821	single nucleotide variant	NM_182632.3(SLC6A18):c.199G>A (p.Glu67Lys)	not specified [RCV004111941]	uncertain significance	5	1232257	1232257	Human		name
155992941	CV2253520	single nucleotide variant	NM_014229.3(SLC6A11):c.130G>A (p.Asp44Asn)	not specified [RCV004125225]	uncertain significance	3	10816395	10816395	Human		name
155970268	CV2262210	single nucleotide variant	NM_182632.3(SLC6A18):c.142T>C (p.Cys48Arg)	not specified [RCV004126638]	uncertain significance	5	1225619	1225619	Human		name
156353754	CV2324137	single nucleotide variant	NM_014229.3(SLC6A11):c.134A>G (p.Lys45Arg)	not specified [RCV004176889]	uncertain significance	3	10816399	10816399	Human		name
156198715	CV2331115	single nucleotide variant	NM_014229.3(SLC6A11):c.110G>T (p.Arg37Leu)	not specified [RCV004181728]	uncertain significance	3	10816375	10816375	Human		name
155998446	CV2396243	single nucleotide variant	NM_182632.3(SLC6A18):c.127C>T (p.Arg43Trp)	not specified [RCV004240195]	uncertain significance	5	1225604	1225604	Human		name
329385595	CV2462081	single nucleotide variant	NM_182632.3(SLC6A18):c.271A>T (p.Thr91Ser)	not specified [RCV004266114]	uncertain significance	5	1232329	1232329	Human		name
401892874	CV2758172	single nucleotide variant	NM_182632.3(SLC6A18):c.247C>T (p.Arg83Trp)	not specified [RCV004341543]	uncertain significance	5	1232305	1232305	Human		name
401870202	CV2792306	single nucleotide variant	NM_016615.5(SLC6A13):c.253G>A (p.Val85Ile)	not specified [RCV004361488]	uncertain significance	12	243763	243763	Human		name
401905788	CV2810040	single nucleotide variant	NM_016615.5(SLC6A13):c.1149C>T (p.Val383=)	not provided [RCV003396101]	likely benign	12	224425	224425	Human		name
401925264	CV2820356	single nucleotide variant	NM_182632.3(SLC6A18):c.1335T>C (p.Thr445=)	not provided [RCV003436370]	likely benign	5	1243758	1243758	Human		name
401925267	CV2820357	single nucleotide variant	NM_182632.3(SLC6A18):c.1383G>A (p.Leu461=)	not provided [RCV003436371]	likely benign	5	1244260	1244260	Human		name
405730572	CV3322129	single nucleotide variant	NM_182632.3(SLC6A18):c.181G>A (p.Val61Ile)	not specified [RCV004464281]	uncertain significance	5	1232239	1232239	Human		name
405730594	CV3322131	single nucleotide variant	NM_182632.3(SLC6A18):c.220G>A (p.Val74Ile)	not specified [RCV004464283]	likely benign	5	1232278	1232278	Human		name
405730602	CV3322132	single nucleotide variant	NM_182632.3(SLC6A18):c.265G>A (p.Val89Met)	not specified [RCV004464284]	uncertain significance	5	1232323	1232323	Human		name
405730009	CV3325896	single nucleotide variant	NM_014229.3(SLC6A11):c.178G>A (p.Val60Met)	not specified [RCV004464210]	uncertain significance	3	10816443	10816443	Human		name
405730319	CV3325936	single nucleotide variant	NM_014037.3(SLC6A16):c.279G>C (p.Glu93Asp)	not specified [RCV004464250]	uncertain significance	19	49311069	49311069	Human		name
407451888	CV3481014	single nucleotide variant	NM_016615.5(SLC6A13):c.100C>A (p.His34Asn)	not specified [RCV004683835]	uncertain significance	12	259953	259953	Human		name
407451891	CV3481015	single nucleotide variant	NM_016615.5(SLC6A13):c.203G>A (p.Gly68Asp)	not specified [RCV004683836]	uncertain significance	12	243813	243813	Human		name
407515533	CV3481029	single nucleotide variant	NM_014037.3(SLC6A16):c.221C>T (p.Ala74Val)	not specified [RCV004674965]	uncertain significance	19	49311127	49311127	Human		name
597688917	CV3606590	single nucleotide variant	NM_182767.6(SLC6A15):c.1110A>G (p.Gln370=)	not specified [RCV004872771]	likely benign	12	84872794	84872794	Human		name
597776348	CV3606601	single nucleotide variant	NM_014037.3(SLC6A16):c.164G>A (p.Arg55Gln)	not specified [RCV004872779]	uncertain significance	19	49311184	49311184	Human		name
597776357	CV3606604	single nucleotide variant	NM_014037.3(SLC6A16):c.137C>T (p.Thr46Ile)	not specified [RCV004872781]	uncertain significance	19	49311211	49311211	Human		name
597776365	CV3606608	single nucleotide variant	NM_014037.3(SLC6A16):c.235G>T (p.Ala79Ser)	not specified [RCV004872783]	uncertain significance	19	49311113	49311113	Human		name
597776414	CV3606626	single nucleotide variant	NM_182632.3(SLC6A18):c.284C>T (p.Pro95Leu)	not specified [RCV004872795]	uncertain significance	5	1232342	1232342	Human		name
597698384	CV3724765	single nucleotide variant	NM_001003841.3(SLC6A19):c.3G>T (p.Met1Ile)	Neutral 1 amino acid transport defect [RCV005033194]	uncertain significance	5	1201653	1201653	Human	1	name
598259645	CV3911542	single nucleotide variant	NM_182767.6(SLC6A15):c.146C>A (p.Thr49Lys)	not specified [RCV005279623]	uncertain significance	12	84891975	84891975	Human		name
598237565	CV3911544	single nucleotide variant	NM_182767.6(SLC6A15):c.281A>G (p.Asn94Ser)	not specified [RCV005275678]	uncertain significance	12	84891840	84891840	Human		name
598259660	CV3911547	single nucleotide variant	NM_014037.3(SLC6A16):c.254C>T (p.Thr85Met)	not specified [RCV005279626]	uncertain significance	19	49311094	49311094	Human		name
598259740	CV3911564	single nucleotide variant	NM_182632.3(SLC6A18):c.284C>G (p.Pro95Arg)	not specified [RCV005279642]	uncertain significance	5	1232342	1232342	Human		name
598259768	CV3921936	single nucleotide variant	NM_182632.3(SLC6A18):c.262G>A (p.Gly88Ser)	not specified [RCV005279648]	uncertain significance	5	1232320	1232320	Human		name
598259776	CV3921938	single nucleotide variant	NM_182632.3(SLC6A18):c.193G>T (p.Val65Phe)	not specified [RCV005279650]	uncertain significance	5	1232251	1232251	Human		name
598259781	CV3921939	single nucleotide variant	NM_182632.3(SLC6A18):c.137A>T (p.Tyr46Phe)	not specified [RCV005279651]	uncertain significance	5	1225614	1225614	Human		name
15166711	CV702528	single nucleotide variant	NM_182767.6(SLC6A15):c.1668C>T (p.Asp556=)	not provided [RCV000948898]	benign	12	84863589	84863589	Human		name
15133169	CV708460	single nucleotide variant	NM_014229.3(SLC6A11):c.1461C>T (p.Ile487=)	not provided [RCV000964902]	benign	3	10933240	10933240	Human		name
15180616	CV709595	single nucleotide variant	NM_182632.3(SLC6A18):c.272C>T (p.Thr91Met)	not provided [RCV000974195]	benign	5	1232330	1232330	Human		name
15159826	CV709599	single nucleotide variant	NM_182632.3(SLC6A18):c.1032C>T (p.Asp344=)	not provided [RCV000969781]	benign	5	1242764	1242764	Human		name
15117618	CV713482	single nucleotide variant	NM_016615.5(SLC6A13):c.1224C>T (p.His408=)	not provided [RCV000962235]	benign	12	224079	224079	Human		name
15159926	CV713483	single nucleotide variant	NM_016615.5(SLC6A13):c.1221T>C (p.Pro407=)	not provided [RCV000969802]	benign	12	224082	224082	Human		name
15167686	CV717609	single nucleotide variant	NM_007231.5(SLC6A14):c.1074C>T (p.Ser358=)	not provided [RCV000971450]	benign	X	116451585	116451585	Human		name
15180734	CV721189	single nucleotide variant	NM_182632.3(SLC6A18):c.1293C>T (p.Asp431=)	not provided [RCV000885597]	benign	5	1243716	1243716	Human		name
15155231	CV721190	single nucleotide variant	NM_182632.3(SLC6A18):c.1503C>T (p.Cys501=)	not provided [RCV000880377]	likely benign	5	1244614	1244614	Human		name
15109839	CV725047	single nucleotide variant	NM_016615.5(SLC6A13):c.1374C>T (p.Phe458=)	not provided [RCV000893945]	benign	12	223172	223172	Human		name
15186037	CV725294	single nucleotide variant	NM_182767.6(SLC6A15):c.1209T>C (p.Tyr403=)	not provided [RCV000886863]	benign	12	84872695	84872695	Human		name
15174631	CV738596	single nucleotide variant	NM_016615.5(SLC6A13):c.1038C>G (p.Pro346=)	not provided [RCV000906013]	benign	12	226412	226412	Human		name
15144769	CV745555	single nucleotide variant	NM_001010898.4(SLC6A17):c.81C>G (p.Leu27=)	not provided [RCV000922426]	benign	1	110167010	110167010	Human		name
8628368	CV83512	single nucleotide variant	NM_014037.2(SLC6A16):c.1849C>T (p.Leu617=)	Malignant melanoma [RCV000063593]	not provided	19	49290697	49290697	Human		name
8628369	CV83513	single nucleotide variant	NM_014037.2(SLC6A16):c.1521C>T (p.Ala507=)	Malignant melanoma [RCV000063594]	not provided	19	49293924	49293924	Human		name
8636930	CV92155	single nucleotide variant	NM_014037.2(SLC6A16):c.1563T>C (p.Ile521=)	Malignant melanoma [RCV000072253]	not provided	19	49293882	49293882	Human		name
8637722	CV92948	single nucleotide variant	NM_007231.4(SLC6A14):c.1928G>A (p.Ter643=)	Malignant melanoma [RCV000073046]	not provided	X	116458954	116458954	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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