Slc18a3 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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269 records found for search term Slc18a3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150336581	CV1165013	single nucleotide variant	NM_003055.3(SLC18A3):c.*39G>T	not provided [RCV001530907]	benign	10	49612378	49612378	Human		name
156331036	CV1954094	single nucleotide variant	NM_003055.3(SLC18A3):c.9C>T (p.Ser3=)	not provided [RCV002579998]	likely benign	10	49610749	49610749	Human		name
156360782	CV2003160	single nucleotide variant	NM_003055.3(SLC18A3):c.12G>A (p.Ala4=)	not provided [RCV002676233]	likely benign	10	49610752	49610752	Human		name
152051785	CV1520036	single nucleotide variant	NM_003055.3(SLC18A3):c.90G>A (p.Arg30=)	not provided [RCV002134173]	likely benign	10	49610830	49610830	Human		name
152049694	CV1661982	single nucleotide variant	NM_003055.3(SLC18A3):c.88C>A (p.Arg30=)	CHAT-related disorder [RCV003923648]\|not provided [RCV002116176]	benign	10	49610828	49610828	Human	4	name
152049694	CV1661982	single nucleotide variant	NM_003055.3(SLC18A3):c.88C>A (p.Arg30=)	CHAT-related disorder [RCV003923648]\|not provided [RCV002116176]	benign	10	49610828	49610829	Human	4	name
156146186	CV2002991	single nucleotide variant	NM_003055.3(SLC18A3):c.36G>A (p.Ala12=)	not provided [RCV002663747]	likely benign	10	49610776	49610776	Human		name
405164968	CV3121859	single nucleotide variant	NM_003055.3(SLC18A3):c.39G>A (p.Ala13=)	not provided [RCV003818637]	likely benign	10	49610779	49610779	Human		name
152051363	CV1546593	single nucleotide variant	NM_003055.3(SLC18A3):c.261G>A (p.Pro87=)	not provided [RCV002130786]	likely benign	10	49611001	49611001	Human		name
152048464	CV1593348	single nucleotide variant	NM_003055.3(SLC18A3):c.216C>A (p.Thr72=)	not provided [RCV002106063]	likely benign	10	49610956	49610956	Human		name
152045418	CV1614466	single nucleotide variant	NM_003055.3(SLC18A3):c.240C>T (p.Pro80=)	not provided [RCV002079378]	likely benign	10	49610980	49610980	Human		name
152061191	CV1643342	single nucleotide variant	NM_003055.3(SLC18A3):c.249G>T (p.Pro83=)	not provided [RCV002216243]	likely benign	10	49610989	49610989	Human		name
156403288	CV1908601	single nucleotide variant	NM_003055.3(SLC18A3):c.114C>T (p.Ile38=)	not provided [RCV002605868]	likely benign	10	49610854	49610854	Human		name
155927420	CV1912181	single nucleotide variant	NM_003055.3(SLC18A3):c.11C>G (p.Ala4Gly)	not provided [RCV002614831]	uncertain significance	10	49610751	49610751	Human		name
156388338	CV1989873	single nucleotide variant	NM_003055.3(SLC18A3):c.249G>A (p.Pro83=)	not provided [RCV002604452]	likely benign	10	49610989	49610989	Human		name
156217358	CV1995509	single nucleotide variant	NM_003055.3(SLC18A3):c.244C>T (p.Leu82=)	not provided [RCV002667087]	likely benign	10	49610984	49610984	Human		name
155946643	CV2072686	single nucleotide variant	NM_003055.3(SLC18A3):c.279C>T (p.Tyr93=)	not provided [RCV002862107]	uncertain significance	10	49611019	49611019	Human		name
156316531	CV2169205	single nucleotide variant	NM_003055.3(SLC18A3):c.288C>T (p.Asn96=)	not provided [RCV003028895]	likely benign	10	49611028	49611028	Human		name
156289166	CV2172485	single nucleotide variant	NM_003055.3(SLC18A3):c.108T>A (p.Leu36=)	not provided [RCV003027608]	likely benign	10	49610848	49610848	Human		name
401854465	CV2750449	single nucleotide variant	NM_003055.3(SLC18A3):c.225C>T (p.Pro75=)	not provided [RCV003334122]	likely benign	10	49610965	49610965	Human		name
402476750	CV3049106	single nucleotide variant	NM_003055.3(SLC18A3):c.195C>T (p.Arg65=)	not provided [RCV003732943]	likely benign	10	49610935	49610935	Human		name
405194886	CV3167704	single nucleotide variant	NM_003055.3(SLC18A3):c.183C>T (p.Ile61=)	not provided [RCV003860110]	likely benign	10	49610923	49610923	Human		name
126732770	CV1020732	single nucleotide variant	NM_003055.3(SLC18A3):c.88C>T (p.Arg30Trp)	Congenital myasthenic syndrome 21 [RCV001334113]\|not provided [RCV001871855]	uncertain significance	10	49610828	49610828	Human	1	name
150459244	CV1269772	single nucleotide variant	NM_003055.3(SLC18A3):c.396T>C (p.Ala132=)	not provided [RCV001693312]	benign	10	49611136	49611136	Human		name
151770250	CV1341267	single nucleotide variant	NM_003055.3(SLC18A3):c.32G>T (p.Arg11Leu)	not provided [RCV001866276]	uncertain significance	10	49610772	49610772	Human		name
151713430	CV1445835	single nucleotide variant	NM_003055.3(SLC18A3):c.46A>G (p.Lys16Glu)	not provided [RCV002011382]	uncertain significance	10	49610786	49610786	Human		name
151809064	CV1500297	single nucleotide variant	NM_003055.3(SLC18A3):c.41C>A (p.Ala14Asp)	Inborn genetic diseases [RCV003167126]\|not provided [RCV001938106]	uncertain significance	10	49610781	49610781	Human	1	name
151721377	CV1505726	single nucleotide variant	NM_003055.3(SLC18A3):c.64G>A (p.Gly22Ser)	not provided [RCV002039742]	uncertain significance	10	49610804	49610804	Human		name
152055817	CV1526398	single nucleotide variant	NM_003055.3(SLC18A3):c.687G>T (p.Pro229=)	not provided [RCV002170873]	likely benign	10	49611427	49611427	Human		name
152059679	CV1532629	single nucleotide variant	NM_003055.3(SLC18A3):c.915C>T (p.Leu305=)	not provided [RCV002204415]	likely benign	10	49611655	49611655	Human		name
152052476	CV1534942	single nucleotide variant	NM_003055.3(SLC18A3):c.393G>A (p.Lys131=)	not provided [RCV002141092]	likely benign	10	49611133	49611133	Human		name
152044969	CV1551614	single nucleotide variant	NM_003055.3(SLC18A3):c.543G>T (p.Ala181=)	not provided [RCV002075265]	likely benign	10	49611283	49611283	Human		name
152056955	CV1558105	single nucleotide variant	NM_003055.3(SLC18A3):c.603C>G (p.Ala201=)	not provided [RCV002182202]	likely benign	10	49611343	49611343	Human		name
152061118	CV1573387	single nucleotide variant	NM_003055.3(SLC18A3):c.534G>C (p.Leu178=)	not provided [RCV002215732]	likely benign	10	49611274	49611274	Human		name
152048186	CV1608810	single nucleotide variant	NM_003055.3(SLC18A3):c.999G>A (p.Pro333=)	not provided [RCV002104021]	likely benign	10	49611739	49611739	Human		name
152055377	CV1609973	single nucleotide variant	NM_003055.3(SLC18A3):c.351G>A (p.Thr117=)	not provided [RCV002167242]	likely benign	10	49611091	49611091	Human		name
152058572	CV1628228	single nucleotide variant	NM_003055.3(SLC18A3):c.855C>T (p.Leu285=)	not provided [RCV002197336]	likely benign	10	49611595	49611595	Human		name
152046294	CV1634675	single nucleotide variant	NM_003055.3(SLC18A3):c.651G>A (p.Ala217=)	not provided [RCV002086891]	likely benign	10	49611391	49611391	Human		name
152059598	CV1635743	single nucleotide variant	NM_003055.3(SLC18A3):c.642G>A (p.Leu214=)	not provided [RCV002203669]	likely benign	10	49611382	49611382	Human		name
152050843	CV1644061	single nucleotide variant	NM_003055.3(SLC18A3):c.510C>A (p.Ala170=)	not provided [RCV002125960]	likely benign	10	49611250	49611250	Human		name
152050219	CV1649755	single nucleotide variant	NM_003055.3(SLC18A3):c.816T>A (p.Ala272=)	not provided [RCV002121270]	likely benign	10	49611556	49611556	Human		name
152049075	CV1654010	single nucleotide variant	NM_003055.3(SLC18A3):c.41C>T (p.Ala14Val)	not provided [RCV002111093]	benign	10	49610781	49610781	Human		name
152055938	CV1661606	single nucleotide variant	NM_003055.3(SLC18A3):c.534G>A (p.Leu178=)	not provided [RCV002172353]	likely benign	10	49611274	49611274	Human		name
152055956	CV1661831	single nucleotide variant	NM_003055.3(SLC18A3):c.861A>G (p.Leu287=)	not provided [RCV002172457]	likely benign	10	49611601	49611601	Human		name
156435892	CV1937834	single nucleotide variant	NM_003055.3(SLC18A3):c.741G>T (p.Val247=)	not provided [RCV003117870]	likely benign	10	49611481	49611481	Human		name
156435603	CV1943994	single nucleotide variant	NM_003055.3(SLC18A3):c.867C>T (p.Pro289=)	not provided [RCV003109079]	likely benign	10	49611607	49611607	Human		name
156410182	CV1962140	single nucleotide variant	NM_003055.3(SLC18A3):c.519G>A (p.Glu173=)	not provided [RCV002587071]	likely benign	10	49611259	49611259	Human		name
156355432	CV1975059	single nucleotide variant	NM_003055.3(SLC18A3):c.669C>T (p.Phe223=)	not provided [RCV002602128]	likely benign	10	49611409	49611409	Human		name
156109646	CV2002224	single nucleotide variant	NM_003055.3(SLC18A3):c.957G>A (p.Thr319=)	not provided [RCV002639886]	likely benign	10	49611697	49611697	Human		name
156303543	CV2013595	single nucleotide variant	NM_003055.3(SLC18A3):c.513C>T (p.Phe171=)	not provided [RCV002716171]	likely benign	10	49611253	49611253	Human		name
155935149	CV2023847	single nucleotide variant	NM_003055.3(SLC18A3):c.811C>A (p.Arg271=)	not provided [RCV002774816]	likely benign	10	49611551	49611551	Human		name
156052111	CV2027389	single nucleotide variant	NM_003055.3(SLC18A3):c.765C>T (p.Asp255=)	not provided [RCV002736545]	likely benign	10	49611505	49611505	Human		name
156204986	CV2034907	single nucleotide variant	NM_003055.3(SLC18A3):c.379C>T (p.Leu127=)	not provided [RCV002766383]	likely benign	10	49611119	49611119	Human		name
155963891	CV2089291	single nucleotide variant	NM_003055.3(SLC18A3):c.819G>C (p.Arg273=)	not provided [RCV002881154]	uncertain significance	10	49611559	49611559	Human		name
156267210	CV2092252	single nucleotide variant	NM_003055.3(SLC18A3):c.840T>A (p.Thr280=)	not provided [RCV002895803]	likely benign	10	49611580	49611580	Human		name
155924235	CV2148693	single nucleotide variant	NM_003055.3(SLC18A3):c.769C>T (p.Leu257=)	not provided [RCV003013332]	likely benign	10	49611509	49611509	Human		name
156237342	CV2183790	single nucleotide variant	NM_003055.3(SLC18A3):c.600C>T (p.Ile200=)	not provided [RCV003059533]	likely benign	10	49611340	49611340	Human		name
402471950	CV2948739	single nucleotide variant	NM_003055.3(SLC18A3):c.717C>T (p.Ala239=)	not provided [RCV003666658]	likely benign	10	49611457	49611457	Human		name
405120329	CV3116488	single nucleotide variant	NM_003055.3(SLC18A3):c.843C>G (p.Pro281=)	not provided [RCV003814789]	likely benign	10	49611583	49611583	Human		name
404983508	CV3121615	single nucleotide variant	NM_003055.3(SLC18A3):c.318A>G (p.Pro106=)	not provided [RCV003826414]	likely benign	10	49611058	49611058	Human		name
405127686	CV3132915	single nucleotide variant	NM_003055.3(SLC18A3):c.768G>A (p.Ala256=)	not provided [RCV003838078]	likely benign	10	49611508	49611508	Human		name
405106931	CV3136202	single nucleotide variant	NM_003055.3(SLC18A3):c.570C>T (p.Ala190=)	not provided [RCV003835548]	likely benign	10	49611310	49611310	Human		name
405236121	CV3168977	single nucleotide variant	NM_003055.3(SLC18A3):c.972G>A (p.Glu324=)	not provided [RCV003866256]	likely benign	10	49611712	49611712	Human		name
402495450	CV3183095	single nucleotide variant	NM_003055.3(SLC18A3):c.864C>T (p.Asp288=)	not provided [RCV003877403]	likely benign	10	49611604	49611604	Human		name
597844789	CV3756021	single nucleotide variant	NM_003055.3(SLC18A3):c.849C>T (p.His283=)	not provided [RCV005086293]	uncertain significance	10	49611589	49611589	Human		name
597854108	CV3837110	single nucleotide variant	NM_003055.3(SLC18A3):c.408G>A (p.Leu136=)	not provided [RCV005187941]	uncertain significance	10	49611148	49611148	Human		name
598268998	CV3921745	single nucleotide variant	NM_003055.3(SLC18A3):c.48G>C (p.Lys16Asn)	Inborn genetic diseases [RCV005281875]	uncertain significance	10	49610788	49610788	Human	1	name
15177518	CV712390	single nucleotide variant	NM_003055.3(SLC18A3):c.636T>C (p.Arg212=)	not provided [RCV000973446]	benign	10	49611376	49611376	Human		name
15197224	CV723962	single nucleotide variant	NM_003055.3(SLC18A3):c.37G>C (p.Ala13Pro)	not provided [RCV000889997]	benign	10	49610777	49610777	Human		name
15197227	CV723963	single nucleotide variant	NM_003055.3(SLC18A3):c.615G>C (p.Pro205=)	not provided [RCV000889998]	benign	10	49611355	49611355	Human		name
15197231	CV723964	single nucleotide variant	NM_003055.3(SLC18A3):c.927A>G (p.Glu309=)	not provided [RCV000889999]	benign	10	49611667	49611667	Human		name
15184036	CV737507	single nucleotide variant	NM_003055.3(SLC18A3):c.85C>T (p.Arg29Trp)	Congenital myasthenic syndrome 21 [RCV001334112]\|SLC18A3-related disorder [RCV003895522]\|not provided [RCV000908188]	benign\|likely benign\|uncertain significance	10	49610825	49610825	Human	1	name , trait , alternate_id
15145248	CV737508	single nucleotide variant	NM_003055.3(SLC18A3):c.924C>A (p.Leu308=)	SLC18A3-related disorder [RCV004757313]\|not provided [RCV000900132]	likely benign\|uncertain significance	10	49611664	49611664	Human	1	name , trait , alternate_id
15195706	CV752116	single nucleotide variant	NM_003055.3(SLC18A3):c.32G>A (p.Arg11Gln)	not provided [RCV000911491]	likely benign	10	49610772	49610772	Human		name
15152184	CV752117	single nucleotide variant	NM_003055.3(SLC18A3):c.708T>C (p.Tyr236=)	not provided [RCV000923822]	likely benign	10	49611448	49611448	Human		name
15105576	CV752118	single nucleotide variant	NM_003055.3(SLC18A3):c.825C>T (p.Asn275=)	not provided [RCV000915575]	likely benign	10	49611565	49611565	Human		name
15135902	CV767770	single nucleotide variant	NM_003055.3(SLC18A3):c.525C>T (p.Tyr175=)	not provided [RCV000942992]	likely benign	10	49611265	49611265	Human		name
15103509	CV783613	single nucleotide variant	NM_003055.3(SLC18A3):c.915C>A (p.Leu305=)	not provided [RCV000976033]	likely benign	10	49611655	49611655	Human		name
126732763	CV1020733	single nucleotide variant	NM_003055.3(SLC18A3):c.151A>G (p.Met51Val)	Congenital myasthenic syndrome 21 [RCV001334111]	uncertain significance	10	49610891	49610891	Human	1	name
151828522	CV1368593	single nucleotide variant	NM_003055.3(SLC18A3):c.239C>T (p.Pro80Leu)	not provided [RCV001978779]	uncertain significance	10	49610979	49610979	Human		name
151806863	CV1371606	single nucleotide variant	NM_003055.3(SLC18A3):c.112A>T (p.Ile38Phe)	not provided [RCV001933352]	uncertain significance	10	49610852	49610852	Human		name
151784955	CV1373701	single nucleotide variant	NM_003055.3(SLC18A3):c.137A>G (p.Asp46Gly)	not provided [RCV001890834]	uncertain significance	10	49610877	49610877	Human		name
151788527	CV1415584	single nucleotide variant	NM_003055.3(SLC18A3):c.183C>G (p.Ile61Met)	not provided [RCV001898601]	uncertain significance	10	49610923	49610923	Human		name
151806449	CV1444114	single nucleotide variant	NM_003055.3(SLC18A3):c.280A>G (p.Thr94Ala)	not provided [RCV001932621]	uncertain significance	10	49611020	49611020	Human		name
151786963	CV1499698	single nucleotide variant	NM_003055.3(SLC18A3):c.110T>C (p.Val37Ala)	not provided [RCV001895081]	uncertain significance	10	49610850	49610850	Human		name
152057618	CV1521891	single nucleotide variant	NM_003055.3(SLC18A3):c.1101C>T (p.Ile367=)	not provided [RCV002187701]	likely benign	10	49611841	49611841	Human		name
152059394	CV1529580	single nucleotide variant	NM_003055.3(SLC18A3):c.1293C>T (p.Ala431=)	not provided [RCV002202193]	likely benign	10	49612033	49612033	Human		name
152059689	CV1532745	single nucleotide variant	NM_003055.3(SLC18A3):c.1143G>T (p.Ala381=)	not provided [RCV002204446]	likely benign	10	49611883	49611883	Human		name
152053786	CV1547065	single nucleotide variant	NM_003055.3(SLC18A3):c.208G>A (p.Gly70Ser)	not provided [RCV002151928]	likely benign	10	49610948	49610948	Human		name
152056901	CV1557005	single nucleotide variant	NM_003055.3(SLC18A3):c.1455G>A (p.Leu485=)	not provided [RCV002181801]	likely benign	10	49612195	49612195	Human		name
152052631	CV1558632	single nucleotide variant	NM_003055.3(SLC18A3):c.1185C>A (p.Ala395=)	not provided [RCV002142406]	likely benign	10	49611925	49611925	Human		name
152061817	CV1569320	single nucleotide variant	NM_003055.3(SLC18A3):c.1113G>T (p.Ser371=)	not provided [RCV002220562]	likely benign	10	49611853	49611853	Human		name
152059156	CV1582458	single nucleotide variant	NM_003055.3(SLC18A3):c.1461T>C (p.Asp487=)	not provided [RCV002200959]	likely benign	10	49612201	49612201	Human		name
152056483	CV1586443	single nucleotide variant	NM_003055.3(SLC18A3):c.1200A>T (p.Ala400=)	not provided [RCV002178185]	likely benign	10	49611940	49611940	Human		name
152049827	CV1602628	single nucleotide variant	NM_003055.3(SLC18A3):c.1035C>G (p.Thr345=)	not provided [RCV002117551]	likely benign	10	49611775	49611775	Human		name
152056574	CV1606050	single nucleotide variant	NM_003055.3(SLC18A3):c.1302C>G (p.Leu434=)	not provided [RCV002178782]	likely benign	10	49612042	49612042	Human		name
152054775	CV1614197	single nucleotide variant	NM_003055.3(SLC18A3):c.1206G>T (p.Leu402=)	not provided [RCV002161411]	likely benign	10	49611946	49611946	Human		name
152046525	CV1615058	single nucleotide variant	NM_003055.3(SLC18A3):c.1044G>A (p.Leu348=)	not provided [RCV002088892]	likely benign	10	49611784	49611784	Human		name
152061413	CV1621215	single nucleotide variant	NM_003055.3(SLC18A3):c.1453C>T (p.Leu485=)	not provided [RCV002218172]	likely benign	10	49612193	49612193	Human		name
152054110	CV1630261	single nucleotide variant	NM_003055.3(SLC18A3):c.1185C>T (p.Ala395=)	not provided [RCV002154834]	likely benign	10	49611925	49611925	Human		name
152058744	CV1641358	single nucleotide variant	NM_003055.3(SLC18A3):c.1308C>T (p.Pro436=)	not provided [RCV002198090]	likely benign	10	49612048	49612048	Human		name
152050484	CV1648105	single nucleotide variant	NM_003055.3(SLC18A3):c.1584C>T (p.Tyr528=)	not provided [RCV002123540]	benign	10	49612324	49612324	Human		name
152045284	CV1648731	single nucleotide variant	NM_003055.3(SLC18A3):c.1542G>C (p.Pro514=)	not provided [RCV002078064]	likely benign	10	49612282	49612282	Human		name
152047224	CV1653434	single nucleotide variant	NM_003055.3(SLC18A3):c.1551T>G (p.Pro517=)	not provided [RCV002094868]	likely benign	10	49612291	49612291	Human		name
152053145	CV1659982	single nucleotide variant	NM_003055.3(SLC18A3):c.1329G>A (p.Val443=)	not provided [RCV002147527]	likely benign	10	49612069	49612069	Human		name
155959507	CV1900174	single nucleotide variant	NM_003055.3(SLC18A3):c.1299G>C (p.Ala433=)	not provided [RCV003095769]	likely benign	10	49612039	49612039	Human		name
156406599	CV1917786	single nucleotide variant	NM_003055.3(SLC18A3):c.1164C>T (p.Cys388=)	SLC18A3-related disorder [RCV003946308]\|not provided [RCV002606645]	likely benign	10	49611904	49611904	Human	1	name , trait , alternate_id
156407570	CV1918172	single nucleotide variant	NM_003055.3(SLC18A3):c.1248C>G (p.Val416=)	not provided [RCV002606934]	likely benign	10	49611988	49611988	Human		name
156204373	CV1922593	single nucleotide variant	NM_003055.3(SLC18A3):c.1251T>C (p.Tyr417=)	not provided [RCV002643753]	likely benign	10	49611991	49611991	Human		name
156435809	CV1937744	single nucleotide variant	NM_003055.3(SLC18A3):c.1074G>A (p.Leu358=)	not provided [RCV003115138]	likely benign	10	49611814	49611814	Human		name
156233660	CV1965826	single nucleotide variant	NM_003055.3(SLC18A3):c.1296C>T (p.Tyr432=)	not provided [RCV002596897]	likely benign	10	49612036	49612036	Human		name
156126834	CV1993048	single nucleotide variant	NM_003055.3(SLC18A3):c.193C>G (p.Arg65Gly)	not provided [RCV002623158]	uncertain significance	10	49610933	49610933	Human		name
156404659	CV1993452	single nucleotide variant	NM_003055.3(SLC18A3):c.1230C>T (p.Asp410=)	not provided [RCV002658106]	likely benign	10	49611970	49611970	Human		name
156294071	CV1995076	single nucleotide variant	NM_003055.3(SLC18A3):c.177C>G (p.Asp59Glu)	not provided [RCV002670881]	uncertain significance	10	49610917	49610917	Human		name
156309795	CV2000017	single nucleotide variant	NM_003055.3(SLC18A3):c.1083G>T (p.Ala361=)	not provided [RCV002671567]	likely benign	10	49611823	49611823	Human		name
156367689	CV2021039	single nucleotide variant	NM_003055.3(SLC18A3):c.1302C>A (p.Leu434=)	not provided [RCV002721293]	likely benign	10	49612042	49612042	Human		name
156124336	CV2021157	single nucleotide variant	NM_003055.3(SLC18A3):c.1063C>T (p.Leu355=)	not provided [RCV002740321]	likely benign	10	49611803	49611803	Human		name
156107004	CV2045879	single nucleotide variant	NM_003055.3(SLC18A3):c.1092G>C (p.Leu364=)	not provided [RCV002785245]	likely benign	10	49611832	49611832	Human		name
156094124	CV2106339	single nucleotide variant	NM_003055.3(SLC18A3):c.1299G>T (p.Ala433=)	not provided [RCV002952477]	likely benign	10	49612039	49612039	Human		name
156120286	CV2183256	single nucleotide variant	NM_003055.3(SLC18A3):c.238C>T (p.Pro80Ser)	not provided [RCV003039287]	uncertain significance	10	49610978	49610978	Human		name
156397408	CV2200437	single nucleotide variant	NM_003055.3(SLC18A3):c.296C>G (p.Ala99Gly)	Inborn genetic diseases [RCV002655109]	uncertain significance	10	49611036	49611036	Human	1	name
156238904	CV2285922	single nucleotide variant	NM_003055.3(SLC18A3):c.175G>A (p.Asp59Asn)	Inborn genetic diseases [RCV002854119]	uncertain significance	10	49610915	49610915	Human	1	name
402471792	CV2946311	single nucleotide variant	NM_003055.3(SLC18A3):c.1155C>T (p.Val385=)	not provided [RCV003664735]	likely benign	10	49611895	49611895	Human		name
402473693	CV3006823	single nucleotide variant	NM_003055.3(SLC18A3):c.1392C>G (p.Pro464=)	not provided [RCV003695845]	likely benign	10	49612132	49612132	Human		name
405090971	CV3122598	single nucleotide variant	NM_003055.3(SLC18A3):c.1212G>T (p.Thr404=)	not provided [RCV003811163]	likely benign	10	49611952	49611952	Human		name
405026505	CV3129693	single nucleotide variant	NM_003055.3(SLC18A3):c.1215C>T (p.Leu405=)	not provided [RCV003830291]	likely benign	10	49611955	49611955	Human		name
405212232	CV3169730	single nucleotide variant	NM_003055.3(SLC18A3):c.1122G>C (p.Val374=)	not provided [RCV003862329]	likely benign	10	49611862	49611862	Human		name
405279658	CV3217548	single nucleotide variant	NM_003055.3(SLC18A3):c.1542G>A (p.Pro514=)	SLC18A3-related disorder [RCV003976936]	likely benign	10	49612282	49612282	Human		name , trait , alternate_id
598268993	CV3921744	single nucleotide variant	NM_003055.3(SLC18A3):c.268G>A (p.Ala90Thr)	Inborn genetic diseases [RCV005281874]	uncertain significance	10	49611008	49611008	Human	1	name
13487722	CV444607	deletion	NM_003055.3(SLC18A3):c.347del (p.Pro116fs)	not provided [RCV000523324]	likely pathogenic	10	49611085	49611085	Human		name
15197235	CV723965	single nucleotide variant	NM_003055.3(SLC18A3):c.1125C>G (p.Pro375=)	not provided [RCV000890000]	benign	10	49611865	49611865	Human		name
15153749	CV752119	single nucleotide variant	NM_003055.3(SLC18A3):c.1479G>A (p.Leu493=)	not provided [RCV000924118]	likely benign	10	49612219	49612219	Human		name
15194722	CV767771	single nucleotide variant	NM_003055.3(SLC18A3):c.1500T>C (p.Arg500=)	not provided [RCV000933724]	likely benign	10	49612240	49612240	Human		name
150546280	CV1296186	single nucleotide variant	NM_003055.3(SLC18A3):c.334C>T (p.Arg112Trp)	not provided [RCV001763476]	uncertain significance	10	49611074	49611074	Human		name
151711717	CV1339542	single nucleotide variant	NM_003055.3(SLC18A3):c.302C>T (p.Pro101Leu)	Inborn genetic diseases [RCV004046162]\|not provided [RCV002004246]	uncertain significance	10	49611042	49611042	Human	1	name
151833073	CV1342569	single nucleotide variant	NM_003055.3(SLC18A3):c.595A>C (p.Met199Leu)	not provided [RCV001988708]	uncertain significance	10	49611335	49611335	Human		name
151723922	CV1343968	single nucleotide variant	NM_003055.3(SLC18A3):c.329C>A (p.Ala110Asp)	not provided [RCV002046431]	uncertain significance	10	49611069	49611069	Human		name
151774373	CV1357232	single nucleotide variant	NM_003055.3(SLC18A3):c.682G>T (p.Ala228Ser)	not provided [RCV001872133]	uncertain significance	10	49611422	49611422	Human		name
151709669	CV1367269	single nucleotide variant	NM_003055.3(SLC18A3):c.392A>G (p.Lys131Arg)	not provided [RCV001994258]	uncertain significance	10	49611132	49611132	Human		name
151723987	CV1369355	single nucleotide variant	NM_003055.3(SLC18A3):c.803C>A (p.Ala268Glu)	Inborn genetic diseases [RCV002549020]\|not provided [RCV002046551]	uncertain significance	10	49611543	49611543	Human	1	name
151710536	CV1380360	single nucleotide variant	NM_003055.3(SLC18A3):c.781G>A (p.Ala261Thr)	not provided [RCV001998681]	uncertain significance	10	49611521	49611521	Human		name
151807866	CV1383205	single nucleotide variant	NM_003055.3(SLC18A3):c.443G>T (p.Arg148Leu)	not provided [RCV001935680]	uncertain significance	10	49611183	49611183	Human		name
151823402	CV1385424	single nucleotide variant	NM_003055.3(SLC18A3):c.788C>T (p.Ala263Val)	Inborn genetic diseases [RCV002571331]\|not provided [RCV001969238]	uncertain significance	10	49611528	49611528	Human	1	name
151786088	CV1390254	single nucleotide variant	NM_003055.3(SLC18A3):c.323G>C (p.Gly108Ala)	not provided [RCV001893152]	uncertain significance	10	49611063	49611063	Human		name
151711332	CV1400144	single nucleotide variant	NM_003055.3(SLC18A3):c.623C>T (p.Pro208Leu)	Inborn genetic diseases [RCV004955977]\|not provided [RCV002002164]	uncertain significance	10	49611363	49611363	Human	1	name
151833628	CV1413143	single nucleotide variant	NM_003055.3(SLC18A3):c.932C>A (p.Thr311Asn)	not provided [RCV001989902]	uncertain significance	10	49611672	49611672	Human		name
151785321	CV1425084	single nucleotide variant	NM_003055.3(SLC18A3):c.680T>C (p.Val227Ala)	Inborn genetic diseases [RCV002554221]\|not provided [RCV001891446]	uncertain significance	10	49611420	49611420	Human	1	name
151788044	CV1434763	single nucleotide variant	NM_003055.3(SLC18A3):c.781G>C (p.Ala261Pro)	Congenital myasthenic syndrome 21 [RCV003492690]\|not provided [RCV001897595]	uncertain significance	10	49611521	49611521	Human	1	name
151723060	CV1455952	single nucleotide variant	NM_003055.3(SLC18A3):c.851G>A (p.Arg284His)	not provided [RCV002044381]	uncertain significance	10	49611591	49611591	Human		name
151802404	CV1461350	single nucleotide variant	NM_003055.3(SLC18A3):c.646G>T (p.Val216Leu)	Inborn genetic diseases [RCV003247152]\|not provided [RCV001925840]	uncertain significance	10	49611386	49611386	Human	1	name
151722598	CV1465306	single nucleotide variant	NM_003055.3(SLC18A3):c.428G>C (p.Gly143Ala)	not provided [RCV002043117]	uncertain significance	10	49611168	49611168	Human		name
151822870	CV1475004	single nucleotide variant	NM_003055.3(SLC18A3):c.442C>T (p.Arg148Cys)	Inborn genetic diseases [RCV004043173]\|not provided [RCV001968113]	uncertain significance	10	49611182	49611182	Human	1	name
151783057	CV1476587	single nucleotide variant	NM_003055.3(SLC18A3):c.524A>G (p.Tyr175Cys)	not provided [RCV001886948]	uncertain significance	10	49611264	49611264	Human		name
151720002	CV1479275	single nucleotide variant	NM_003055.3(SLC18A3):c.718G>C (p.Gly240Arg)	not provided [RCV002035166]	uncertain significance	10	49611458	49611458	Human		name
151724975	CV1486044	single nucleotide variant	NM_003055.3(SLC18A3):c.866C>A (p.Pro289His)	not provided [RCV002049282]	uncertain significance	10	49611606	49611606	Human		name
151713215	CV1488973	single nucleotide variant	NM_003055.3(SLC18A3):c.385G>T (p.Ala129Ser)	Inborn genetic diseases [RCV003170512]\|not provided [RCV002010512]	uncertain significance	10	49611125	49611125	Human	1	name
151828239	CV1498631	single nucleotide variant	NM_003055.3(SLC18A3):c.820G>A (p.Ala274Thr)	not provided [RCV001978228]	uncertain significance	10	49611560	49611560	Human		name
151768656	CV1499495	single nucleotide variant	NM_003055.3(SLC18A3):c.656C>A (p.Ala219Asp)	not provided [RCV001863442]	uncertain significance	10	49611396	49611396	Human		name
151794256	CV1500114	single nucleotide variant	NM_003055.3(SLC18A3):c.715G>T (p.Ala239Ser)	Inborn genetic diseases [RCV004955808]\|not provided [RCV001909968]	uncertain significance	10	49611455	49611455	Human	1	name
151724684	CV1505265	single nucleotide variant	NM_003055.3(SLC18A3):c.515C>T (p.Ala172Val)	not provided [RCV002048505]	uncertain significance	10	49611255	49611255	Human		name
151821615	CV1510758	single nucleotide variant	NM_003055.3(SLC18A3):c.591A>G (p.Ile197Met)	not provided [RCV001965086]	uncertain significance	10	49611331	49611331	Human		name
151828363	CV1514850	single nucleotide variant	NM_003055.3(SLC18A3):c.848A>G (p.His283Arg)	not provided [RCV001978422]	uncertain significance	10	49611588	49611588	Human		name
156416818	CV1898221	single nucleotide variant	NM_003055.3(SLC18A3):c.921C>G (p.Phe307Leu)	not provided [RCV002610377]	uncertain significance	10	49611661	49611661	Human		name
156407687	CV1915041	single nucleotide variant	NM_003055.3(SLC18A3):c.841C>G (p.Pro281Ala)	Inborn genetic diseases [RCV004673813]\|not provided [RCV002606971]	uncertain significance	10	49611581	49611581	Human	1	name
156131330	CV1962721	single nucleotide variant	NM_003055.3(SLC18A3):c.634C>A (p.Arg212Ser)	Inborn genetic diseases [RCV002572242]\|not provided [RCV002572241]	uncertain significance	10	49611374	49611374	Human	1	name
156415436	CV1991060	single nucleotide variant	NM_003055.3(SLC18A3):c.727G>T (p.Val243Leu)	not provided [RCV002609666]	uncertain significance	10	49611467	49611467	Human		name
156016215	CV1993279	single nucleotide variant	NM_003055.3(SLC18A3):c.962C>A (p.Ala321Glu)	not provided [RCV002636477]	uncertain significance	10	49611702	49611702	Human		name
156196813	CV1995818	single nucleotide variant	NM_003055.3(SLC18A3):c.530C>T (p.Thr177Met)	not provided [RCV002643494]	uncertain significance	10	49611270	49611270	Human		name
156106072	CV2001993	single nucleotide variant	NM_003055.3(SLC18A3):c.794C>A (p.Pro265His)	not provided [RCV002639759]	uncertain significance	10	49611534	49611534	Human		name
156077933	CV2011872	single nucleotide variant	NM_003055.3(SLC18A3):c.634C>T (p.Arg212Cys)	Inborn genetic diseases [RCV002720366]\|not provided [RCV002705893]	uncertain significance	10	49611374	49611374	Human	1	name
156303024	CV2013562	single nucleotide variant	NM_003055.3(SLC18A3):c.418C>T (p.Pro140Ser)	not provided [RCV002716147]	uncertain significance	10	49611158	49611158	Human		name
155912730	CV2021778	single nucleotide variant	NM_003055.3(SLC18A3):c.707A>G (p.Tyr236Cys)	not provided [RCV002726922]	uncertain significance	10	49611447	49611447	Human		name
155993958	CV2059907	single nucleotide variant	NM_003055.3(SLC18A3):c.454G>T (p.Asp152Tyr)	not provided [RCV002819334]	uncertain significance	10	49611194	49611194	Human		name
156103378	CV2107869	single nucleotide variant	NM_003055.3(SLC18A3):c.866C>T (p.Pro289Leu)	not provided [RCV002927133]	uncertain significance	10	49611606	49611606	Human		name
156333714	CV2112918	single nucleotide variant	NM_003055.3(SLC18A3):c.595A>G (p.Met199Val)	not provided [RCV002938508]	uncertain significance	10	49611335	49611335	Human		name
156251107	CV2116950	single nucleotide variant	NM_003055.3(SLC18A3):c.988G>T (p.Ala330Ser)	not provided [RCV002933551]	uncertain significance	10	49611728	49611728	Human		name
156316506	CV2137747	single nucleotide variant	NM_003055.3(SLC18A3):c.956C>G (p.Thr319Arg)	Inborn genetic diseases [RCV002962935]\|not provided [RCV002962934]	uncertain significance	10	49611696	49611696	Human	1	name
156202988	CV2163642	single nucleotide variant	NM_003055.3(SLC18A3):c.803C>T (p.Ala268Val)	not provided [RCV003042038]	uncertain significance	10	49611543	49611543	Human		name
156298163	CV2180519	single nucleotide variant	NM_003055.3(SLC18A3):c.604G>T (p.Asp202Tyr)	not provided [RCV003027964]	uncertain significance	10	49611344	49611344	Human		name
156394048	CV2181719	single nucleotide variant	NM_003055.3(SLC18A3):c.949A>C (p.Lys317Gln)	not provided [RCV003051650]	uncertain significance	10	49611689	49611689	Human		name
156185464	CV2239430	single nucleotide variant	NM_003055.3(SLC18A3):c.856A>G (p.Met286Val)	Inborn genetic diseases [RCV002802531]	uncertain significance	10	49611596	49611596	Human	1	name
156214124	CV2257438	single nucleotide variant	NM_003055.3(SLC18A3):c.347C>T (p.Pro116Leu)	Inborn genetic diseases [RCV002804277]	uncertain significance	10	49611087	49611087	Human	1	name
156161411	CV2272593	single nucleotide variant	NM_003055.3(SLC18A3):c.778C>A (p.Leu260Met)	Inborn genetic diseases [RCV002827406]	uncertain significance	10	49611518	49611518	Human	1	name
156203093	CV2313275	single nucleotide variant	NM_003055.3(SLC18A3):c.854T>C (p.Leu285Pro)	Inborn genetic diseases [RCV002893266]	uncertain significance	10	49611594	49611594	Human	1	name
401747674	CV2697536	single nucleotide variant	NM_003055.3(SLC18A3):c.916G>T (p.Ala306Ser)	Inborn genetic diseases [RCV003289758]	uncertain significance	10	49611656	49611656	Human	1	name
401858863	CV2787032	single nucleotide variant	NM_003055.3(SLC18A3):c.869A>G (p.Tyr290Cys)	Inborn genetic diseases [RCV003375073]	uncertain significance	10	49611609	49611609	Human	1	name
402507845	CV2869231	single nucleotide variant	NM_003055.3(SLC18A3):c.704T>A (p.Leu235His)	not provided [RCV003545996]	uncertain significance	10	49611444	49611444	Human		name
402476907	CV3070171	single nucleotide variant	NM_003055.3(SLC18A3):c.623C>G (p.Pro208Arg)	not provided [RCV003734781]	benign	10	49611363	49611363	Human		name
405229977	CV3153485	single nucleotide variant	NM_003055.3(SLC18A3):c.456C>A (p.Asp152Glu)	not provided [RCV003848550]	uncertain significance	10	49611196	49611196	Human		name
405691671	CV3225937	single nucleotide variant	NM_003055.3(SLC18A3):c.539C>G (p.Ala180Gly)	Congenital myasthenic syndrome 21 [RCV003989376]	uncertain significance	10	49611279	49611279	Human	1	name
405712021	CV3329013	single nucleotide variant	NM_003055.3(SLC18A3):c.350C>T (p.Thr117Met)	Inborn genetic diseases [RCV004448617]	uncertain significance	10	49611090	49611090	Human	1	name
405712036	CV3329015	single nucleotide variant	NM_003055.3(SLC18A3):c.680T>G (p.Val227Gly)	Inborn genetic diseases [RCV004448619]	uncertain significance	10	49611420	49611420	Human	1	name
405712054	CV3329017	single nucleotide variant	NM_003055.3(SLC18A3):c.985A>T (p.Met329Leu)	Inborn genetic diseases [RCV004448621]	uncertain significance	10	49611725	49611725	Human	1	name
407451073	CV3477282	single nucleotide variant	NM_003055.3(SLC18A3):c.701T>G (p.Ile234Ser)	Inborn genetic diseases [RCV004672173]	uncertain significance	10	49611441	49611441	Human	1	name
408380317	CV3517697	single nucleotide variant	NM_003055.3(SLC18A3):c.842C>T (p.Pro281Leu)	SLC18A3-related disorder [RCV004757936]	uncertain significance	10	49611582	49611582	Human		name , trait , alternate_id
12740635	CV359064	single nucleotide variant	NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala)	Congenital myasthenic syndrome 21 [RCV000412561]	pathogenic\|uncertain significance	10	49611297	49611297	Human	1	name
597699597	CV3596322	single nucleotide variant	NM_003055.3(SLC18A3):c.505T>C (p.Phe169Leu)	Inborn genetic diseases [RCV004971222]	uncertain significance	10	49611245	49611245	Human	1	name
597698943	CV3596325	single nucleotide variant	NM_003055.3(SLC18A3):c.738G>C (p.Leu246Phe)	Inborn genetic diseases [RCV004957864]	uncertain significance	10	49611478	49611478	Human	1	name
597698955	CV3596328	single nucleotide variant	NM_003055.3(SLC18A3):c.634C>G (p.Arg212Gly)	Inborn genetic diseases [RCV004957866]	uncertain significance	10	49611374	49611374	Human	1	name
597699913	CV3596333	single nucleotide variant	NM_003055.3(SLC18A3):c.596T>A (p.Met199Lys)	Inborn genetic diseases [RCV004971227]	uncertain significance	10	49611336	49611336	Human	1	name
598268977	CV3921740	single nucleotide variant	NM_003055.3(SLC18A3):c.773T>G (p.Leu258Trp)	Inborn genetic diseases [RCV005281870]	uncertain significance	10	49611513	49611513	Human	1	name
598268990	CV3921743	single nucleotide variant	NM_003055.3(SLC18A3):c.782C>T (p.Ala261Val)	Inborn genetic diseases [RCV005281873]	likely benign	10	49611522	49611522	Human	1	name
598269000	CV3921746	single nucleotide variant	NM_003055.3(SLC18A3):c.527C>A (p.Ala176Asp)	Inborn genetic diseases [RCV005281876]	uncertain significance	10	49611267	49611267	Human	1	name
598269005	CV3921747	single nucleotide variant	NM_003055.3(SLC18A3):c.317C>T (p.Pro106Leu)	Inborn genetic diseases [RCV005281877]	uncertain significance	10	49611057	49611057	Human	1	name
13489566	CV444608	single nucleotide variant	NM_003055.3(SLC18A3):c.599T>A (p.Ile200Asn)	not provided [RCV000523930]	likely pathogenic	10	49611339	49611339	Human		name
13481861	CV444609	single nucleotide variant	NM_003055.3(SLC18A3):c.945G>A (p.Trp315Ter)	not provided [RCV000521623]	likely pathogenic	10	49611685	49611685	Human		name
126746097	CV1017289	single nucleotide variant	NM_003055.3(SLC18A3):c.1093G>C (p.Ala365Pro)	Congenital myasthenic syndrome 21 [RCV001330803]	uncertain significance	10	49611833	49611833	Human	1	name
150533553	CV1294256	single nucleotide variant	NM_003055.3(SLC18A3):c.1445G>A (p.Arg482His)	not provided [RCV001758274]	uncertain significance	10	49612185	49612185	Human		name
151812391	CV1338047	single nucleotide variant	NM_003055.3(SLC18A3):c.1526G>C (p.Gly509Ala)	not provided [RCV001944889]	uncertain significance	10	49612266	49612266	Human		name
151826057	CV1351861	single nucleotide variant	NM_003055.3(SLC18A3):c.1163G>A (p.Cys388Tyr)	not provided [RCV001974144]	uncertain significance	10	49611903	49611903	Human		name
151823366	CV1359018	single nucleotide variant	NM_003055.3(SLC18A3):c.1076A>T (p.Tyr359Phe)	not provided [RCV001969104]	uncertain significance	10	49611816	49611816	Human		name
151782917	CV1371147	single nucleotide variant	NM_003055.3(SLC18A3):c.1504C>G (p.Arg502Gly)	not provided [RCV001886667]	uncertain significance	10	49612244	49612244	Human		name
151711350	CV1400285	single nucleotide variant	NM_003055.3(SLC18A3):c.1078G>T (p.Gly360Cys)	not provided [RCV002002211]	uncertain significance	10	49611818	49611818	Human		name
151796749	CV1403252	single nucleotide variant	NM_003055.3(SLC18A3):c.1595G>A (p.Ser532Asn)	not provided [RCV001914428]	uncertain significance	10	49612335	49612335	Human		name
151712594	CV1403959	single nucleotide variant	NM_003055.3(SLC18A3):c.1379T>C (p.Leu460Pro)	not provided [RCV002007782]	uncertain significance	10	49612119	49612119	Human		name
151771098	CV1417667	single nucleotide variant	NM_003055.3(SLC18A3):c.1414G>T (p.Val472Leu)	not provided [RCV001867671]	uncertain significance	10	49612154	49612154	Human		name
151831214	CV1422187	single nucleotide variant	NM_003055.3(SLC18A3):c.1451T>C (p.Val484Ala)	Inborn genetic diseases [RCV002561521]\|not provided [RCV001984828]	uncertain significance	10	49612191	49612191	Human	1	name
151717232	CV1424189	single nucleotide variant	NM_003055.3(SLC18A3):c.1435C>G (p.Arg479Gly)	not provided [RCV002025706]	uncertain significance	10	49612175	49612175	Human		name
151717304	CV1424372	single nucleotide variant	NM_003055.3(SLC18A3):c.1235G>A (p.Arg412His)	not provided [RCV002025841]	uncertain significance	10	49611975	49611975	Human		name
151715910	CV1432440	single nucleotide variant	NM_003055.3(SLC18A3):c.1531C>T (p.Pro511Ser)	Inborn genetic diseases [RCV003170343]\|not provided [RCV002022047]	uncertain significance	10	49612271	49612271	Human	1	name
151720310	CV1459845	single nucleotide variant	NM_003055.3(SLC18A3):c.1126G>T (p.Ala376Ser)	Inborn genetic diseases [RCV004956189]\|not provided [RCV002036170]	uncertain significance	10	49611866	49611866	Human	1	name
151822579	CV1461591	single nucleotide variant	NM_003055.3(SLC18A3):c.1564G>A (p.Glu522Lys)	not provided [RCV001967636]	uncertain significance	10	49612304	49612304	Human		name
151806602	CV1474729	single nucleotide variant	NM_003055.3(SLC18A3):c.1132C>A (p.Arg378Ser)	not provided [RCV001932922]	uncertain significance	10	49611872	49611872	Human		name
151829990	CV1497508	single nucleotide variant	NM_003055.3(SLC18A3):c.1240G>A (p.Val414Ile)	not provided [RCV001982341]	uncertain significance	10	49611980	49611980	Human		name
151825805	CV1503974	single nucleotide variant	NM_003055.3(SLC18A3):c.1541C>G (p.Pro514Arg)	not provided [RCV001973712]	uncertain significance	10	49612281	49612281	Human		name
151717749	CV1515250	single nucleotide variant	NM_003055.3(SLC18A3):c.1040G>T (p.Arg347Leu)	not provided [RCV002027089]	uncertain significance	10	49611780	49611780	Human		name
152053944	CV1550479	single nucleotide variant	NM_003055.3(SLC18A3):c.1030C>G (p.Leu344Val)	Inborn genetic diseases [RCV004046603]\|not provided [RCV002153159]	likely benign\|uncertain significance	10	49611770	49611770	Human	1	name
152057280	CV1626554	single nucleotide variant	NM_003055.3(SLC18A3):c.1591C>T (p.Arg531Cys)	SLC18A3-related disorder [RCV003958540]\|not provided [RCV002185231]	likely benign	10	49612331	49612331	Human	1	name , trait , alternate_id
156336411	CV1963962	single nucleotide variant	NM_003055.3(SLC18A3):c.1109G>T (p.Ser370Ile)	not provided [RCV002580270]	uncertain significance	10	49611849	49611849	Human		name
156119373	CV1982671	single nucleotide variant	NM_003055.3(SLC18A3):c.1408C>T (p.Arg470Cys)	not provided [RCV002622884]	uncertain significance	10	49612148	49612148	Human		name
156414357	CV1986610	single nucleotide variant	NM_003055.3(SLC18A3):c.1510G>T (p.Val504Leu)	not provided [RCV002609163]	uncertain significance	10	49612250	49612250	Human		name
156403117	CV1993051	single nucleotide variant	NM_003055.3(SLC18A3):c.1049C>T (p.Ala350Val)	not provided [RCV002657786]	uncertain significance	10	49611789	49611789	Human		name
156123996	CV1995162	single nucleotide variant	NM_003055.3(SLC18A3):c.1109G>C (p.Ser370Thr)	not provided [RCV002662965]	uncertain significance	10	49611849	49611849	Human		name
156295902	CV1995360	single nucleotide variant	NM_003055.3(SLC18A3):c.1436G>T (p.Arg479Leu)	not provided [RCV002670951]	uncertain significance	10	49612176	49612176	Human		name
155944290	CV2003032	single nucleotide variant	NM_003055.3(SLC18A3):c.1592G>A (p.Arg531His)	not provided [RCV002685653]	uncertain significance	10	49612332	49612332	Human		name
156111378	CV2008650	single nucleotide variant	NM_003055.3(SLC18A3):c.1524C>G (p.Asp508Glu)	not provided [RCV002695683]	uncertain significance	10	49612264	49612264	Human		name
156297801	CV2017150	single nucleotide variant	NM_003055.3(SLC18A3):c.1034C>T (p.Thr345Ile)	not provided [RCV002715921]	uncertain significance	10	49611774	49611774	Human		name
156315079	CV2031841	single nucleotide variant	NM_003055.3(SLC18A3):c.1102G>A (p.Gly368Ser)	not provided [RCV002716752]	uncertain significance	10	49611842	49611842	Human		name
156251978	CV2060429	single nucleotide variant	NM_003055.3(SLC18A3):c.1475G>A (p.Gly492Asp)	not provided [RCV002791728]	uncertain significance	10	49612215	49612215	Human		name
156100508	CV2087974	single nucleotide variant	NM_003055.3(SLC18A3):c.1153G>A (p.Val385Ile)	not provided [RCV002848065]	uncertain significance	10	49611893	49611893	Human		name
156100585	CV2132266	single nucleotide variant	NM_003055.3(SLC18A3):c.1063C>G (p.Leu355Val)	not provided [RCV003002197]	uncertain significance	10	49611803	49611803	Human		name
156238658	CV2154595	single nucleotide variant	NM_003055.3(SLC18A3):c.1473A>C (p.Gln491His)	not provided [RCV003025922]	uncertain significance	10	49612213	49612213	Human		name
156359231	CV2162326	single nucleotide variant	NM_003055.3(SLC18A3):c.1344T>A (p.Phe448Leu)	not provided [RCV003031444]	uncertain significance	10	49612084	49612084	Human		name
156337649	CV2190202	single nucleotide variant	NM_003055.3(SLC18A3):c.1510G>A (p.Val504Met)	not provided [RCV003064058]	uncertain significance	10	49612250	49612250	Human		name
156155879	CV2314336	single nucleotide variant	NM_003055.3(SLC18A3):c.1033A>G (p.Thr345Ala)	Inborn genetic diseases [RCV002915675]	uncertain significance	10	49611773	49611773	Human	1	name
401747087	CV2696174	single nucleotide variant	NM_003055.3(SLC18A3):c.1232T>C (p.Val411Ala)	Inborn genetic diseases [RCV003281249]	uncertain significance	10	49611972	49611972	Human	1	name
401746708	CV2719117	single nucleotide variant	NM_003055.3(SLC18A3):c.1210A>G (p.Thr404Ala)	Inborn genetic diseases [RCV003277859]	uncertain significance	10	49611950	49611950	Human	1	name
402476128	CV3062545	single nucleotide variant	NM_003055.3(SLC18A3):c.1116C>A (p.Cys372Ter)	not provided [RCV003727113]	uncertain significance	10	49611856	49611856	Human		name
405712009	CV3329011	single nucleotide variant	NM_003055.3(SLC18A3):c.1084C>G (p.Leu362Val)	Inborn genetic diseases [RCV004448615]	uncertain significance	10	49611824	49611824	Human	1	name
405712014	CV3329012	single nucleotide variant	NM_003055.3(SLC18A3):c.1202T>C (p.Leu401Pro)	Inborn genetic diseases [RCV004448616]	uncertain significance	10	49611942	49611942	Human	1	name
407451068	CV3477280	single nucleotide variant	NM_003055.3(SLC18A3):c.1269C>G (p.Ile423Met)	Inborn genetic diseases [RCV004672171]	uncertain significance	10	49612009	49612009	Human	1	name
407451070	CV3477281	single nucleotide variant	NM_003055.3(SLC18A3):c.1409G>T (p.Arg470Leu)	Inborn genetic diseases [RCV004672172]	uncertain significance	10	49612149	49612149	Human	1	name
12740651	CV359065	single nucleotide variant	NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)	Congenital myasthenic syndrome 21 [RCV000412646]	pathogenic\|likely pathogenic	10	49611932	49611932	Human	1	name
597699940	CV3596324	single nucleotide variant	NM_003055.3(SLC18A3):c.1101C>G (p.Ile367Met)	Inborn genetic diseases [RCV004971223]	uncertain significance	10	49611841	49611841	Human	1	name
597699933	CV3596326	single nucleotide variant	NM_003055.3(SLC18A3):c.1307C>G (p.Pro436Arg)	Inborn genetic diseases [RCV004971224]	uncertain significance	10	49612047	49612047	Human	1	name
597698949	CV3596327	single nucleotide variant	NM_003055.3(SLC18A3):c.1417G>A (p.Gly473Ser)	Inborn genetic diseases [RCV004957865]	uncertain significance	10	49612157	49612157	Human	1	name
597699926	CV3596329	single nucleotide variant	NM_003055.3(SLC18A3):c.1591C>A (p.Arg531Ser)	Inborn genetic diseases [RCV004971225]	uncertain significance	10	49612331	49612331	Human	1	name
597699919	CV3596330	single nucleotide variant	NM_003055.3(SLC18A3):c.1239T>G (p.His413Gln)	Inborn genetic diseases [RCV004971226]	uncertain significance	10	49611979	49611979	Human	1	name
597698963	CV3596331	single nucleotide variant	NM_003055.3(SLC18A3):c.1522G>T (p.Asp508Tyr)	Inborn genetic diseases [RCV004957867]	uncertain significance	10	49612262	49612262	Human	1	name
597698971	CV3596332	single nucleotide variant	NM_003055.3(SLC18A3):c.1504C>A (p.Arg502Ser)	Inborn genetic diseases [RCV004957868]	uncertain significance	10	49612244	49612244	Human	1	name
597843709	CV3759412	single nucleotide variant	NM_003055.3(SLC18A3):c.1436G>A (p.Arg479His)	not provided [RCV005076532]	uncertain significance	10	49612176	49612176	Human		name
598268982	CV3921741	single nucleotide variant	NM_003055.3(SLC18A3):c.1046C>A (p.Ala349Glu)	Inborn genetic diseases [RCV005281871]	uncertain significance	10	49611786	49611786	Human	1	name
616935193	CV4012865	single nucleotide variant	NM_003055.3(SLC18A3):c.1234C>A (p.Arg412Ser)	Congenital myasthenic syndrome 21 [RCV005410329]	uncertain significance	10	49611974	49611974	Human	1	name
15187805	CV737509	single nucleotide variant	NM_003055.3(SLC18A3):c.1276A>G (p.Ile426Val)	SLC18A3-related disorder [RCV003923123]\|not provided [RCV000909189]	benign\|likely benign	10	49612016	49612016	Human	1	name , trait , alternate_id
21071908	CV790963	single nucleotide variant	NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)	Congenital myasthenic syndrome 21 [RCV001807373]\|Familial infantile myasthenia [RCV000988357]\|not provided [RCV001615095]	benign	10	49612299	49612299	Human	2	name
151710476	CV1436763	deletion	NM_003055.3(SLC18A3):c.879_883del (p.Val294fs)	not provided [RCV001998467]	uncertain significance	10	49611619	49611623	Human		name
155942666	CV2006579	indel	NM_003055.3(SLC18A3):c.34_35delinsAG (p.Ala12Arg)	not provided [RCV002685563]	uncertain significance	10	49610774	49610775	Human		name
151780184	CV1409377	indel	NM_003055.3(SLC18A3):c.479_480delinsTT (p.Gly160Val)	not provided [RCV001882083]	uncertain significance	10	49611219	49611220	Human		name
39456629	CV965920	copy number loss	GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)	10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694]	pathogenic				Human		trait

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