Snap25 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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245 records found for search term Snap25

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
616938116	CV4015766	single nucleotide variant	SNAP25, VAL48PHE	Congenital myasthenic syndrome 18 [RCV005414302]	pathogenic				Human	1	name
8628460	CV83604	single nucleotide variant	SNAP25:c.164-268C>T	Malignant melanoma [RCV000063685]	not provided	20	10292893	10292893	Human		name
13504320	CV442262	single nucleotide variant	NM_130811.4(SNAP25):c.-9A>G	not provided [RCV001731744]\|not specified [RCV000518383]	likely benign	20	10275483	10275483	Human		name
13828697	CV580554	single nucleotide variant	NM_130811.4(SNAP25):c.*1G>C	Inborn genetic diseases [RCV002312795]	uncertain significance	20	10306198	10306198	Human	1	name
150530170	CV1291445	single nucleotide variant	NM_130811.4(SNAP25):c.-34C>A	not provided [RCV001732774]	likely benign	20	10275458	10275458	Human		name
127311082	CV1158735	single nucleotide variant	NM_130811.4(SNAP25):c.*239G>T	Congenital myasthenic syndrome 18 [RCV001518486]\|not provided [RCV001655770]	benign	20	10306436	10306436	Human	1	name
150478678	CV1218826	single nucleotide variant	NM_130811.4(SNAP25):c.*243T>C	not provided [RCV001616454]	benign	20	10306440	10306440	Human		name
150453036	CV1275370	single nucleotide variant	NM_130811.4(SNAP25):c.72+1G>A	Developmental and epileptic encephalopathy [RCV001706884]	likely pathogenic	20	10275564	10275564	Human	1	name
150529955	CV1291060	single nucleotide variant	NM_130811.4(SNAP25):c.*271C>T	not provided [RCV001732647]	likely benign	20	10306468	10306468	Human		name
152085087	CV1663174	single nucleotide variant	NM_130811.4(SNAP25):c.73-5C>T	Congenital myasthenic syndrome 18 [RCV002171060]	likely benign	20	10277680	10277680	Human	1	name
405194967	CV2922601	single nucleotide variant	NM_130811.4(SNAP25):c.72+7A>C	Congenital myasthenic syndrome 18 [RCV003590407]	likely benign	20	10275570	10275570	Human	1	name
15192508	CV778566	single nucleotide variant	NM_130811.4(SNAP25):c.73-9A>G	Congenital myasthenic syndrome 18 [RCV000955091]\|SNAP25-related disorder [RCV004533681]	likely benign	20	10277676	10277676	Human	1	name , trait
126918580	CV1051596	single nucleotide variant	NM_130811.4(SNAP25):c.552+6C>T	Congenital myasthenic syndrome 18 [RCV001372742]	uncertain significance	20	10299418	10299418	Human	1	name
127237128	CV1085143	single nucleotide variant	NM_130811.4(SNAP25):c.552+8C>T	Congenital myasthenic syndrome 18 [RCV001397050]\|not provided [RCV003438761]	likely benign	20	10299420	10299420	Human	1	name
150453043	CV1275371	single nucleotide variant	NM_130811.4(SNAP25):c.114+2T>G	Developmental and epileptic encephalopathy [RCV001706885]	likely pathogenic	20	10277728	10277728	Human	1	name
150456012	CV1278440	single nucleotide variant	NM_130811.4(SNAP25):c.72+41G>T	not provided [RCV001709055]	benign	20	10275604	10275604	Human		name
150520839	CV1290636	single nucleotide variant	NM_130811.4(SNAP25):c.73-61T>C	not provided [RCV001732328]	likely benign	20	10277624	10277624	Human		name
150536718	CV1301074	duplication	NM_130811.4(SNAP25):c.115-3dup	not provided [RCV001763557]	uncertain significance	20	10284720	10284721	Human		name
151884206	CV1405104	single nucleotide variant	NM_130811.4(SNAP25):c.408-3C>T	Congenital myasthenic syndrome 18 [RCV001962288]	uncertain significance	20	10299265	10299265	Human	1	name
152123325	CV1594253	single nucleotide variant	NM_130811.4(SNAP25):c.72+13G>A	Congenital myasthenic syndrome 18 [RCV002175869]	likely benign	20	10275576	10275576	Human	1	name
152143257	CV1596680	single nucleotide variant	NM_130811.4(SNAP25):c.114+8G>A	Congenital myasthenic syndrome 18 [RCV002157047]	likely benign	20	10277734	10277734	Human	1	name
152074731	CV1638278	single nucleotide variant	NM_130811.4(SNAP25):c.114+7A>G	Congenital myasthenic syndrome 18 [RCV002192260]	likely benign	20	10277733	10277733	Human	1	name
152140579	CV1660883	single nucleotide variant	NM_130811.4(SNAP25):c.164-4T>C	Congenital myasthenic syndrome 18 [RCV002120311]	likely benign	20	10293157	10293157	Human	1	name
156058619	CV1876053	deletion	NM_130811.4(SNAP25):c.73-16del	Congenital myasthenic syndrome 18 [RCV003053261]	likely benign	20	10277669	10277669	Human	1	name
155931747	CV2067341	single nucleotide variant	NM_130811.4(SNAP25):c.164-8T>A	Congenital myasthenic syndrome 18 [RCV002838801]	likely benign	20	10293153	10293153	Human	1	name
156225626	CV2144482	single nucleotide variant	NM_130811.4(SNAP25):c.408-8G>A	Congenital myasthenic syndrome 18 [RCV003007548]	likely benign	20	10299260	10299260	Human	1	name
405176007	CV2882069	single nucleotide variant	NM_130811.4(SNAP25):c.73-12T>C	Congenital myasthenic syndrome 18 [RCV003588105]	likely benign	20	10277673	10277673	Human	1	name
405112095	CV2968875	single nucleotide variant	NM_130811.4(SNAP25):c.114+3A>C	Congenital myasthenic syndrome 18 [RCV003751737]	uncertain significance	20	10277729	10277729	Human	1	name
405109542	CV3065562	single nucleotide variant	NM_130811.4(SNAP25):c.408-9G>T	Congenital myasthenic syndrome 18 [RCV003751290]	likely benign	20	10299259	10299259	Human	1	name
408369375	CV3510292	single nucleotide variant	NM_130811.4(SNAP25):c.72+10G>A	SNAP25-related disorder [RCV004736876]	likely benign	20	10275573	10275573	Human		name , trait
408385921	CV3528744	single nucleotide variant	NM_130811.4(SNAP25):c.115-1G>C	not provided [RCV004772577]	uncertain significance	20	10284723	10284723	Human		name
596930012	CV3531300	single nucleotide variant	NM_130811.4(SNAP25):c.163+1G>T	not provided [RCV004779874]	uncertain significance	20	10284773	10284773	Human		name
597975958	CV3796035	single nucleotide variant	NM_130811.4(SNAP25):c.552+4A>G	Congenital myasthenic syndrome 18 [RCV005144866]	uncertain significance	20	10299416	10299416	Human	1	name
617153619	CV4016693	single nucleotide variant	NM_130811.4(SNAP25):c.114+2T>C	not provided [RCV005415790]	uncertain significance	20	10277728	10277728	Human		name
617154481	CV4022481	single nucleotide variant	NM_130811.4(SNAP25):c.114+1G>A	not provided [RCV005429838]	uncertain significance	20	10277727	10277727	Human		name
13467885	CV470285	single nucleotide variant	NM_130811.4(SNAP25):c.552+9G>A	Congenital myasthenic syndrome 18 [RCV000556303]	likely benign	20	10299421	10299421	Human	1	name
13499313	CV470288	single nucleotide variant	NM_130811.4(SNAP25):c.553-4C>T	Congenital myasthenic syndrome 18 [RCV001083346]\|Inborn genetic diseases [RCV002311893]\|not provided [RCV000713382]	benign	20	10306125	10306125	Human	2	name
38485427	CV960309	single nucleotide variant	NM_130811.4(SNAP25):c.407+3G>A	Congenital myasthenic syndrome 18 [RCV001236753]	uncertain significance	20	10297053	10297053	Human	1	name
127335815	CV1128275	single nucleotide variant	NM_130811.4(SNAP25):c.164-10G>T	Congenital myasthenic syndrome 18 [RCV001474503]	likely benign	20	10293151	10293151	Human	1	name
150509304	CV1229855	single nucleotide variant	NM_130811.4(SNAP25):c.552+23G>A	Congenital myasthenic syndrome 18 [RCV001810166]\|not provided [RCV001636435]	benign	20	10299435	10299435	Human	1	name
150521228	CV1290987	single nucleotide variant	NM_130811.4(SNAP25):c.72+110G>A	not provided [RCV001732595]	likely benign	20	10275673	10275673	Human		name
152064360	CV1535786	single nucleotide variant	NM_130811.4(SNAP25):c.163+20G>A	Congenital myasthenic syndrome 18 [RCV002168424]	likely benign	20	10284792	10284792	Human	1	name
152170728	CV1536474	single nucleotide variant	NM_130811.4(SNAP25):c.115-15A>G	Congenital myasthenic syndrome 18 [RCV002183254]	benign	20	10284709	10284709	Human	1	name
152049923	CV1540405	single nucleotide variant	NM_130811.4(SNAP25):c.553-13C>T	Congenital myasthenic syndrome 18 [RCV002108825]	likely benign	20	10306116	10306116	Human	1	name
152117525	CV1541171	single nucleotide variant	NM_130811.4(SNAP25):c.407+12G>A	Congenital myasthenic syndrome 18 [RCV002197598]	likely benign	20	10297062	10297062	Human	1	name
152031164	CV1548638	single nucleotide variant	NM_130811.4(SNAP25):c.407+11T>A	Congenital myasthenic syndrome 18 [RCV002086302]	likely benign	20	10297061	10297061	Human	1	name
152077700	CV1564722	single nucleotide variant	NM_130811.4(SNAP25):c.115-20C>G	Congenital myasthenic syndrome 18 [RCV002192632]	likely benign	20	10284704	10284704	Human	1	name
152036755	CV1605607	single nucleotide variant	NM_130811.4(SNAP25):c.114+13A>G	Congenital myasthenic syndrome 18 [RCV002107115]	likely benign	20	10277739	10277739	Human	1	name
152129837	CV1610414	single nucleotide variant	NM_130811.4(SNAP25):c.281+16C>T	Congenital myasthenic syndrome 18 [RCV002136787]	benign	20	10293294	10293294	Human	1	name
152073712	CV1615498	single nucleotide variant	NM_130811.4(SNAP25):c.115-12A>G	Congenital myasthenic syndrome 18 [RCV002091937]	likely benign	20	10284712	10284712	Human	1	name
152079500	CV1620568	single nucleotide variant	NM_130811.4(SNAP25):c.282-17C>T	Congenital myasthenic syndrome 18 [RCV002112557]	likely benign	20	10296908	10296908	Human	1	name
152073071	CV1637939	single nucleotide variant	NM_130811.4(SNAP25):c.407+11T>C	Congenital myasthenic syndrome 18 [RCV002192050]	likely benign	20	10297061	10297061	Human	1	name
152068680	CV1662327	single nucleotide variant	NM_130811.4(SNAP25):c.407+18T>C	Congenital myasthenic syndrome 18 [RCV002111150]	likely benign	20	10297068	10297068	Human	1	name
152025986	CV1666145	single nucleotide variant	NM_130811.4(SNAP25):c.114+18T>C	Congenital myasthenic syndrome 18 [RCV002084648]	likely benign	20	10277744	10277744	Human	1	name
156012792	CV1880623	single nucleotide variant	NM_130811.4(SNAP25):c.281+18G>C	Congenital myasthenic syndrome 18 [RCV003077190]	likely benign	20	10293296	10293296	Human	1	name
156419212	CV1926358	single nucleotide variant	NM_130811.4(SNAP25):c.163+12T>C	Congenital myasthenic syndrome 18 [RCV002612432]	likely benign	20	10284784	10284784	Human	1	name
156067051	CV1927916	single nucleotide variant	NM_130811.4(SNAP25):c.281+13T>A	Congenital myasthenic syndrome 18 [RCV002638478]	likely benign	20	10293291	10293291	Human	1	name
156114841	CV1985890	single nucleotide variant	NM_130811.4(SNAP25):c.408-14T>C	Congenital myasthenic syndrome 18 [RCV002622718]	likely benign	20	10299254	10299254	Human	1	name
156244293	CV2029315	single nucleotide variant	NM_130811.4(SNAP25):c.552+12G>T	Congenital myasthenic syndrome 18 [RCV002745772]	likely benign	20	10299424	10299424	Human	1	name
156352967	CV2065992	single nucleotide variant	NM_130811.4(SNAP25):c.408-19C>T	Congenital myasthenic syndrome 18 [RCV002811921]	likely benign	20	10299249	10299249	Human	1	name
155940710	CV2068104	single nucleotide variant	NM_130811.4(SNAP25):c.282-15C>G	Congenital myasthenic syndrome 18 [RCV002839387]	likely benign	20	10296910	10296910	Human	1	name
156082502	CV2083747	single nucleotide variant	NM_130811.4(SNAP25):c.553-12C>T	Congenital myasthenic syndrome 18 [RCV002847432]	likely benign	20	10306117	10306117	Human	1	name
156136200	CV2085857	single nucleotide variant	NM_130811.4(SNAP25):c.281+17T>C	Congenital myasthenic syndrome 18 [RCV002871816]	likely benign	20	10293295	10293295	Human	1	name
155914704	CV2145341	single nucleotide variant	NM_130811.4(SNAP25):c.408-18T>G	Congenital myasthenic syndrome 18 [RCV002991581]	likely benign	20	10299250	10299250	Human	1	name
405197393	CV2876906	single nucleotide variant	NM_130811.4(SNAP25):c.282-11C>G	Congenital myasthenic syndrome 18 [RCV003590742]	likely benign	20	10296914	10296914	Human	1	name
405105745	CV3042744	single nucleotide variant	NM_130811.4(SNAP25):c.282-20T>G	Congenital myasthenic syndrome 18 [RCV003750426]	likely benign	20	10296905	10296905	Human	1	name
404982602	CV3184222	single nucleotide variant	NM_130811.4(SNAP25):c.408-11T>G	Congenital myasthenic syndrome 18 [RCV003880714]	likely benign	20	10299257	10299257	Human	1	name
597888597	CV3804728	single nucleotide variant	NM_130811.4(SNAP25):c.407+16C>G	Congenital myasthenic syndrome 18 [RCV005150990]	likely benign	20	10297066	10297066	Human	1	name
597884207	CV3858051	single nucleotide variant	NM_130811.4(SNAP25):c.282-20T>A	Congenital myasthenic syndrome 18 [RCV005199479]	likely benign	20	10296905	10296905	Human	1	name
597932037	CV3863326	single nucleotide variant	NM_130811.4(SNAP25):c.114+16A>G	Congenital myasthenic syndrome 18 [RCV005206852]	likely benign	20	10277742	10277742	Human	1	name
150510620	CV1211797	single nucleotide variant	NM_130811.4(SNAP25):c.408-305C>T	not provided [RCV001597693]	benign	20	10298963	10298963	Human		name
150447271	CV1216092	deletion	NM_130811.4(SNAP25):c.408-160del	not provided [RCV001611390]	benign	20	10299101	10299101	Human		name
150497605	CV1219433	single nucleotide variant	NM_130811.4(SNAP25):c.114+310A>T	not provided [RCV001620102]	benign	20	10278036	10278036	Human		name
150498607	CV1224165	single nucleotide variant	NM_130811.4(SNAP25):c.408-320G>C	not provided [RCV001620278]	benign	20	10298948	10298948	Human		name
150517050	CV1227787	deletion	NM_130811.4(SNAP25):c.163+282del	not provided [RCV001639590]	benign	20	10285052	10285052	Human		name
150513692	CV1229110	single nucleotide variant	NM_130811.4(SNAP25):c.115-192A>T	not provided [RCV001637952]	benign	20	10284532	10284532	Human		name
150460835	CV1234696	single nucleotide variant	NM_130811.4(SNAP25):c.114+153A>G	not provided [RCV001649278]	benign	20	10277879	10277879	Human		name
150497984	CV1236450	single nucleotide variant	NM_130811.4(SNAP25):c.282-121A>C	not provided [RCV001656175]	benign	20	10296804	10296804	Human		name
150509009	CV1244972	single nucleotide variant	NM_130811.4(SNAP25):c.408-119G>A	not provided [RCV001659223]	benign	20	10299149	10299149	Human		name
150508755	CV1284361	single nucleotide variant	NM_130811.4(SNAP25):c.114+280C>A	not provided [RCV001720469]	benign	20	10278006	10278006	Human		name
150520813	CV1290623	single nucleotide variant	NM_130811.4(SNAP25):c.553-163A>C	not provided [RCV001732315]	likely benign	20	10305966	10305966	Human		name
150520971	CV1290755	single nucleotide variant	NM_130811.4(SNAP25):c.-63-286C>T	not provided [RCV001732421]	likely benign	20	10275143	10275143	Human		name
150530023	CV1291120	single nucleotide variant	NM_130811.4(SNAP25):c.552+280A>T	not provided [RCV001732691]	likely benign	20	10299692	10299692	Human		name
150531760	CV1291380	single nucleotide variant	NM_130811.4(SNAP25):c.163+177T>G	not provided [RCV001733204]	likely benign	20	10284949	10284949	Human		name
150531813	CV1291408	single nucleotide variant	NM_130811.4(SNAP25):c.553-217C>T	not provided [RCV001733224]	likely benign	20	10305912	10305912	Human		name
150533495	CV1294872	duplication	NM_130811.4(SNAP25):c.408-160dup	not provided [RCV001754465]	benign	20	10299100	10299101	Human		name
150539062	CV1295030	single nucleotide variant	NM_130811.4(SNAP25):c.164-510T>C	not provided [RCV001764991]	likely benign	20	10292651	10292651	Human		name
150539221	CV1305197	single nucleotide variant	NM_130811.4(SNAP25):c.282-218A>G	not provided [RCV001765977]	likely benign	20	10296707	10296707	Human		name
152033952	CV1573160	microsatellite	NM_130811.4(SNAP25):c.72+11GA[3]	Congenital myasthenic syndrome 18 [RCV002187179]	likely benign	20	10275573	10275574	Human		name
155265194	CV1704653	single nucleotide variant	NM_130811.4(SNAP25):c.164-235G>C	not provided [RCV002284869]	uncertain significance	20	10292926	10292926	Human		name
155643112	CV1706543	deletion	NM_130811.4(SNAP25):c.164-252del	Presynaptic congenital myasthenic syndrome [RCV002287617]	likely pathogenic	20	10292909	10292909	Human	1	name
155738003	CV1831847	single nucleotide variant	NM_130811.4(SNAP25):c.164-263C>T	Inborn genetic diseases [RCV002410144]	likely benign	20	10292898	10292898	Human	1	name
408383098	CV3526786	single nucleotide variant	NM_130811.4(SNAP25):c.164-174G>A	not provided [RCV004772099]	uncertain significance	20	10292987	10292987	Human		name
597729997	CV3597407	single nucleotide variant	NM_130811.4(SNAP25):c.164-257A>C	Inborn genetic diseases [RCV004963847]	likely benign	20	10292904	10292904	Human	1	name
597730016	CV3597409	single nucleotide variant	NM_130811.4(SNAP25):c.164-232A>T	Inborn genetic diseases [RCV004963849]	uncertain significance	20	10292929	10292929	Human	1	name
13801598	CV577832	single nucleotide variant	NM_130811.4(SNAP25):c.164-154C>A	not provided [RCV000713381]	uncertain significance	20	10293007	10293007	Human		name
150456071	CV1249562	single nucleotide variant	NM_130811.4(SNAP25):c.-64+25125G>A	not provided [RCV001668777]	benign	20	10244102	10244102	Human		name
13625247	CV533432	single nucleotide variant	NM_130811.4(SNAP25):c.-63-21820G>A	Congenital myasthenic syndrome 18 [RCV000653213]	benign	20	10253609	10253609	Human	1	name
8586235	CV120833	single nucleotide variant	NR_040710.1(SNAP25-AS1):n.500-777A>T	Lung cancer [RCV000101353]	uncertain significance	20	10027425	10027425	Human		name
13625246	CV533513	single nucleotide variant	NM_130811.4(SNAP25):c.6C>T (p.Ala2=)	Congenital myasthenic syndrome 18 [RCV000653212]\|Inborn genetic diseases [RCV002317900]\|SNAP25-related disorder [RCV004533423]\|not provided [RCV004704180]	likely benign	20	10275497	10275497	Human	2	name , trait
8586236	CV120834	single nucleotide variant	NR_040710.1(SNAP25-AS1):n.271-5187G>A	Lung cancer [RCV000101354]	uncertain significance	20	10202124	10202124	Human		name
152160286	CV1642429	single nucleotide variant	NM_130811.4(SNAP25):c.12C>T (p.Asp4=)	Congenital myasthenic syndrome 18 [RCV002103668]	likely benign	20	10275503	10275503	Human	1	name
152146961	CV1649653	duplication	NM_130811.4(SNAP25):c.407+5_407+19dup	Congenital myasthenic syndrome 18 [RCV002121199]	likely benign	20	10297053	10297054	Human	1	name
155714137	CV1841791	single nucleotide variant	NM_130811.4(SNAP25):c.24C>A (p.Arg8=)	Inborn genetic diseases [RCV002431070]	likely benign	20	10275515	10275515	Human	1	name
405108952	CV2961426	single nucleotide variant	NM_130811.4(SNAP25):c.27T>C (p.Asn9=)	Congenital myasthenic syndrome 18 [RCV003751176]	likely benign	20	10275518	10275518	Human	1	name
126769437	CV1014008	single nucleotide variant	NM_130811.4(SNAP25):c.84C>T (p.Ser28=)	Congenital myasthenic syndrome 18 [RCV001321959]	likely benign\|uncertain significance	20	10277696	10277696	Human	1	name
151756551	CV1381901	single nucleotide variant	NM_130811.4(SNAP25):c.7G>A (p.Glu3Lys)	Congenital myasthenic syndrome 18 [RCV001969718]	uncertain significance	20	10275498	10275498	Human	1	name
151728801	CV1410048	single nucleotide variant	NM_130811.4(SNAP25):c.75G>A (p.Ser25=)	Congenital myasthenic syndrome 18 [RCV001910654]	likely benign	20	10277687	10277687	Human	1	name
152175889	CV1580147	single nucleotide variant	NM_130811.4(SNAP25):c.93T>A (p.Arg31=)	Congenital myasthenic syndrome 18 [RCV002164027]	likely benign	20	10277705	10277705	Human	1	name
152044506	CV1588587	single nucleotide variant	NM_130811.4(SNAP25):c.69T>C (p.Asp23=)	Congenital myasthenic syndrome 18 [RCV002188674]	likely benign	20	10275560	10275560	Human	1	name
156163329	CV1903197	single nucleotide variant	NM_130811.4(SNAP25):c.51G>A (p.Arg17=)	Congenital myasthenic syndrome 18 [RCV003082982]	likely benign	20	10275542	10275542	Human	1	name
405106993	CV3052839	single nucleotide variant	NM_130811.4(SNAP25):c.61T>C (p.Leu21=)	Congenital myasthenic syndrome 18 [RCV003750651]	likely benign	20	10275552	10275552	Human	1	name
405107150	CV3067596	single nucleotide variant	NM_130811.4(SNAP25):c.60G>A (p.Gln20=)	Congenital myasthenic syndrome 18 [RCV003750688]	likely benign	20	10275551	10275551	Human	1	name
15148017	CV694988	single nucleotide variant	NM_130811.4(SNAP25):c.75G>T (p.Ser25=)	Congenital myasthenic syndrome 18 [RCV000878876]\|Inborn genetic diseases [RCV002390855]\|not provided [RCV001692319]	benign\|likely benign	20	10277687	10277687	Human	2	name
38497567	CV950976	single nucleotide variant	NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr)	Congenital myasthenic syndrome 18 [RCV001227168]\|Inborn genetic diseases [RCV002339619]	uncertain significance	20	10275495	10275495	Human	2	name
127241056	CV1085141	single nucleotide variant	NM_130811.4(SNAP25):c.165A>G (p.Glu55=)	Congenital myasthenic syndrome 18 [RCV001415686]	likely benign	20	10293162	10293162	Human	1	name
151857535	CV1363839	single nucleotide variant	NM_130811.4(SNAP25):c.23G>A (p.Arg8His)	Congenital myasthenic syndrome 18 [RCV001904873]\|not specified [RCV004782803]	uncertain significance	20	10275514	10275514	Human	1	name
151790789	CV1475423	single nucleotide variant	NM_130811.4(SNAP25):c.25A>C (p.Asn9His)	Congenital myasthenic syndrome 18 [RCV001973032]	uncertain significance	20	10275516	10275516	Human	1	name
151804105	CV1503254	single nucleotide variant	NM_130811.4(SNAP25):c.11A>G (p.Asp4Gly)	Congenital myasthenic syndrome 18 [RCV002011832]	uncertain significance	20	10275502	10275502	Human	1	name
152145807	CV1649421	single nucleotide variant	NM_130811.4(SNAP25):c.183G>A (p.Glu61=)	Congenital myasthenic syndrome 18 [RCV002121018]	likely benign	20	10293180	10293180	Human	1	name
152056138	CV1649422	single nucleotide variant	NM_130811.4(SNAP25):c.186A>G (p.Glu62=)	Congenital myasthenic syndrome 18 [RCV002127798]	likely benign	20	10293183	10293183	Human	1	name
152056141	CV1649423	single nucleotide variant	NM_130811.4(SNAP25):c.189G>A (p.Gly63=)	Congenital myasthenic syndrome 18 [RCV002127799]	likely benign	20	10293186	10293186	Human	1	name
152144727	CV1658195	single nucleotide variant	NM_130811.4(SNAP25):c.180T>C (p.Ile60=)	Congenital myasthenic syndrome 18 [RCV002219860]	likely benign	20	10293177	10293177	Human	1	name
152173974	CV1660135	single nucleotide variant	NM_130811.4(SNAP25):c.141G>A (p.Leu47=)	Congenital myasthenic syndrome 18 [RCV002162990]	likely benign	20	10284750	10284750	Human	1	name
155702658	CV1776958	single nucleotide variant	NM_130811.4(SNAP25):c.22C>A (p.Arg8Ser)	Congenital myasthenic syndrome 18 [RCV002300048]	uncertain significance	20	10275513	10275513	Human	1	name
156092834	CV2151903	single nucleotide variant	NM_130811.4(SNAP25):c.105G>A (p.Leu35=)	Congenital myasthenic syndrome 18 [RCV003020748]	likely benign	20	10277717	10277717	Human	1	name
405110449	CV3078811	single nucleotide variant	NM_130811.4(SNAP25):c.219A>G (p.Glu73=)	Congenital myasthenic syndrome 18 [RCV003751412]	uncertain significance	20	10293216	10293216	Human	1	name
407427158	CV3410495	single nucleotide variant	NM_130811.4(SNAP25):c.237G>C (p.Thr79=)	not specified [RCV004586142]	likely benign	20	10293234	10293234	Human		name
596922995	CV3530205	indel	NM_130811.4(SNAP25):c.114_114+1delinsTT	not provided [RCV004776804]	uncertain significance	20	10277726	10277727	Human		name
596926421	CV3539825	single nucleotide variant	NM_130811.4(SNAP25):c.22C>T (p.Arg8Cys)	not provided [RCV004790816]	uncertain significance	20	10275513	10275513	Human		name
597903115	CV3851579	single nucleotide variant	NM_130811.4(SNAP25):c.12C>G (p.Asp4Glu)	Congenital myasthenic syndrome 18 [RCV005202356]	uncertain significance	20	10275503	10275503	Human	1	name
13804483	CV571140	single nucleotide variant	NM_130811.4(SNAP25):c.13G>A (p.Ala5Thr)	Congenital myasthenic syndrome 18 [RCV000699630]	benign\|uncertain significance	20	10275504	10275504	Human	1	name
14743429	CV648566	single nucleotide variant	NM_130811.4(SNAP25):c.26A>G (p.Asn9Ser)	Congenital myasthenic syndrome 18 [RCV000823444]	benign\|uncertain significance	20	10275517	10275517	Human	1	name
126747131	CV1014009	single nucleotide variant	NM_130811.4(SNAP25):c.89G>A (p.Arg30His)	Congenital myasthenic syndrome 18 [RCV001326113]\|Inborn genetic diseases [RCV002377419]	likely benign\|uncertain significance	20	10277701	10277701	Human	2	name
126725571	CV1034582	single nucleotide variant	NM_130811.4(SNAP25):c.495G>A (p.Leu165=)	Congenital myasthenic syndrome 18 [RCV001348197]	likely benign\|uncertain significance	20	10299355	10299355	Human	1	name
127238654	CV1085142	single nucleotide variant	NM_130811.4(SNAP25):c.513C>A (p.Ile171=)	Congenital myasthenic syndrome 18 [RCV001397365]	likely benign	20	10299373	10299373	Human	1	name
127306385	CV1128276	single nucleotide variant	NM_130811.4(SNAP25):c.393C>T (p.Gly131=)	Congenital myasthenic syndrome 18 [RCV001455500]	likely benign	20	10297036	10297036	Human	1	name
127313584	CV1149216	single nucleotide variant	NM_130811.4(SNAP25):c.426A>G (p.Arg142=)	Congenital myasthenic syndrome 18 [RCV001482028]	likely benign	20	10299286	10299286	Human	1	name
127327449	CV1149217	single nucleotide variant	NM_130811.4(SNAP25):c.471C>A (p.Ile157=)	Congenital myasthenic syndrome 18 [RCV001506629]	likely benign	20	10299331	10299331	Human	1	name
127288532	CV1149218	single nucleotide variant	NM_130811.4(SNAP25):c.513C>T (p.Ile171=)	Congenital myasthenic syndrome 18 [RCV001495273]\|Inborn genetic diseases [RCV002334532]\|not provided [RCV004704623]	likely benign	20	10299373	10299373	Human	2	name
150453058	CV1275373	single nucleotide variant	NM_130811.4(SNAP25):c.92G>A (p.Arg31His)	Congenital myasthenic syndrome 18 [RCV001868398]\|Developmental and epileptic encephalopathy [RCV001706887]\|SNAP25-related disorder [RCV004738364]	uncertain significance	20	10277704	10277704	Human	2	name , trait
151761365	CV1400581	single nucleotide variant	NM_130811.4(SNAP25):c.69T>G (p.Asp23Glu)	Congenital myasthenic syndrome 18 [RCV002007903]	uncertain significance	20	10275560	10275560	Human	1	name
152101115	CV1578835	single nucleotide variant	NM_130811.4(SNAP25):c.378G>A (p.Gln126=)	Congenital myasthenic syndrome 18 [RCV002079003]	likely benign	20	10297021	10297021	Human	1	name
152062782	CV1612504	single nucleotide variant	NM_130811.4(SNAP25):c.594T>C (p.Arg198=)	Congenital myasthenic syndrome 18 [RCV002168210]	likely benign	20	10306170	10306170	Human	1	name
152136403	CV1634605	single nucleotide variant	NM_130811.4(SNAP25):c.393C>G (p.Gly131=)	Congenital myasthenic syndrome 18 [RCV002218774]	likely benign	20	10297036	10297036	Human	1	name
156371271	CV2007779	single nucleotide variant	NM_130811.4(SNAP25):c.516T>C (p.Asp172=)	Congenital myasthenic syndrome 18 [RCV002676922]	likely benign	20	10299376	10299376	Human	1	name
156212650	CV2028489	single nucleotide variant	NM_130811.4(SNAP25):c.393C>A (p.Gly131=)	Congenital myasthenic syndrome 18 [RCV002711824]	likely benign	20	10297036	10297036	Human	1	name
155996964	CV2064097	single nucleotide variant	NM_130811.4(SNAP25):c.57C>A (p.Asp19Glu)	Congenital myasthenic syndrome 18 [RCV002843229]	uncertain significance	20	10275548	10275548	Human	1	name
156026957	CV2131372	single nucleotide variant	NM_130811.4(SNAP25):c.363G>A (p.Val121=)	Congenital myasthenic syndrome 18 [RCV002976432]	likely benign\|uncertain significance	20	10297006	10297006	Human	1	name
155980827	CV2163065	single nucleotide variant	NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)	Congenital myasthenic syndrome 18 [RCV003033870]\|not provided [RCV003235755]	pathogenic\|likely pathogenic	20	10277686	10277686	Human	1	name
405197070	CV2868032	single nucleotide variant	NM_130811.4(SNAP25):c.405C>T (p.Arg135=)	Congenital myasthenic syndrome 18 [RCV003590488]	likely benign	20	10297048	10297048	Human	1	name
405193141	CV2921243	single nucleotide variant	NM_130811.4(SNAP25):c.528C>T (p.Arg176=)	Congenital myasthenic syndrome 18 [RCV003590193]	likely benign	20	10299388	10299388	Human	1	name
405194581	CV2931468	single nucleotide variant	NM_130811.4(SNAP25):c.333A>G (p.Gly111=)	Congenital myasthenic syndrome 18 [RCV003590359]	likely benign	20	10296976	10296976	Human	1	name
405108964	CV2950280	single nucleotide variant	NM_130811.4(SNAP25):c.493C>T (p.Leu165=)	Congenital myasthenic syndrome 18 [RCV003751132]	likely benign	20	10299353	10299353	Human	1	name
405110498	CV3073670	single nucleotide variant	NM_130811.4(SNAP25):c.345C>T (p.Ser115=)	Congenital myasthenic syndrome 18 [RCV003751469]	likely benign	20	10296988	10296988	Human	1	name
405235638	CV3168683	single nucleotide variant	NM_130811.4(SNAP25):c.88C>T (p.Arg30Cys)	Congenital myasthenic syndrome 18 [RCV003866157]	uncertain significance	20	10277700	10277700	Human	1	name
597946534	CV3790153	single nucleotide variant	NM_130811.4(SNAP25):c.74C>A (p.Ser25Ter)	Congenital myasthenic syndrome 18 [RCV005134854]	uncertain significance	20	10277686	10277686	Human	1	name
597872651	CV3805360	single nucleotide variant	NM_130811.4(SNAP25):c.42G>A (p.Met14Ile)	Congenital myasthenic syndrome 18 [RCV005148638]	uncertain significance	20	10275533	10275533	Human	1	name
597928440	CV3837262	single nucleotide variant	NM_130811.4(SNAP25):c.351T>A (p.Pro117=)	Congenital myasthenic syndrome 18 [RCV005185420]	likely benign	20	10296994	10296994	Human	1	name
13500957	CV469318	single nucleotide variant	NM_130811.4(SNAP25):c.366C>T (p.Asp122=)	Congenital myasthenic syndrome 18 [RCV000539022]\|Inborn genetic diseases [RCV002456254]\|SNAP25-related disorder [RCV004530575]	likely benign	20	10297009	10297009	Human	2	name , trait
13625245	CV533992	single nucleotide variant	NM_130811.4(SNAP25):c.462C>T (p.Ser154=)	Congenital myasthenic syndrome 18 [RCV000653211]\|Inborn genetic diseases [RCV002315981]\|SNAP25-related disorder [RCV004533422]	likely benign	20	10299322	10299322	Human	2	name , trait
13828281	CV580408	single nucleotide variant	NM_130811.4(SNAP25):c.330C>T (p.Asp110=)	Congenital myasthenic syndrome 18 [RCV001518556]\|Inborn genetic diseases [RCV002312294]\|not provided [RCV001692263]	benign	20	10296973	10296973	Human	2	name
15149649	CV706478	single nucleotide variant	NM_130811.4(SNAP25):c.534C>T (p.Ile178=)	Congenital myasthenic syndrome 18 [RCV000945346]\|Inborn genetic diseases [RCV002346149]	likely benign	20	10299394	10299394	Human	2	name
21068127	CV797950	single nucleotide variant	NM_130811.4(SNAP25):c.471C>T (p.Ile157=)	Congenital myasthenic syndrome 18 [RCV001501766]\|not provided [RCV000997744]	likely benign	20	10299331	10299331	Human	1	name
8628461	CV83605	single nucleotide variant	NM_130811.2(SNAP25):c.540G>A (p.Arg180=)	Malignant melanoma [RCV000063686]	not provided	20	10299400	10299400	Human		name
26922131	CV848195	single nucleotide variant	NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln)	Congenital myasthenic syndrome 18 [RCV001061618]	uncertain significance	20	10275538	10275538	Human	1	name
127286186	CV1161854	single nucleotide variant	NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu)	Developmental and epileptic encephalopathy [RCV001706735]\|Global developmental delay [RCV001526593]	likely pathogenic	20	10284727	10284727	Human	3	name
150452947	CV1275359	single nucleotide variant	NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg)	Congenital myasthenic syndrome 18 [RCV005414276]\|Developmental and epileptic encephalopathy [RCV001706873]\|Inborn genetic diseases [RCV004968238]	pathogenic\|likely pathogenic	20	10284736	10284736	Human	3	name
150452955	CV1275360	single nucleotide variant	NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser)	Developmental and epileptic encephalopathy [RCV001706874]	likely pathogenic	20	10284758	10284758	Human	1	name
150452962	CV1275361	single nucleotide variant	NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg)	Developmental and epileptic encephalopathy [RCV001706875]	likely pathogenic	20	10293167	10293167	Human	1	name
150452968	CV1275362	single nucleotide variant	NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro)	Developmental and epileptic encephalopathy [RCV001706876]	likely pathogenic\|conflicting interpretations of pathogenicity	20	10293194	10293194	Human	1	name
150452983	CV1275364	single nucleotide variant	NM_130811.4(SNAP25):c.212T>C (p.Met71Thr)	Congenital myasthenic syndrome 18 [RCV005414277]\|Developmental and epileptic encephalopathy [RCV001706878]	pathogenic\|likely pathogenic	20	10293209	10293209	Human	2	name
150453064	CV1275374	single nucleotide variant	NM_130811.4(SNAP25):c.176G>C (p.Arg59Pro)	Developmental and epileptic encephalopathy [RCV001706888]	uncertain significance	20	10293173	10293173	Human	1	name
150453075	CV1275376	deletion	NM_130811.4(SNAP25):c.464del (p.Gly155fs)	Developmental and epileptic encephalopathy [RCV001706890]	uncertain significance	20	10299323	10299323	Human	1	name
151749786	CV1338511	single nucleotide variant	NM_130811.4(SNAP25):c.296A>T (p.Asp99Val)	Congenital myasthenic syndrome 18 [RCV001927405]\|SNAP25-related disorder [RCV004538589]\|not provided [RCV004762225]	benign\|uncertain significance	20	10296939	10296939	Human	1	name , trait
151865844	CV1472195	single nucleotide variant	NM_130811.4(SNAP25):c.281A>G (p.Lys94Arg)	Congenital myasthenic syndrome 18 [RCV002018329]	uncertain significance	20	10293278	10293278	Human	1	name
152982537	CV1677467	single nucleotide variant	NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro)	Congenital myasthenic syndrome 18 [RCV002249176]	likely pathogenic	20	10293167	10293167	Human	1	name
10042915	CV187687	single nucleotide variant	NM_003081.3(SNAP25):c.200T>A (p.Ile67Asn)	MYASTHENIC SYNDROME, CONGENITAL, 18 [RCV000170319]\|MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA [RCV000170319]\|Myasthenic syndrome, congenital, 18 [RCV000170319]	pathogenic\|not provided	20	10292918	10292918	Human		name
156406274	CV1921521	single nucleotide variant	NM_130811.4(SNAP25):c.103C>A (p.Leu35Met)	Congenital myasthenic syndrome 18 [RCV002606542]	uncertain significance	20	10277715	10277715	Human	1	name
156176773	CV1924286	single nucleotide variant	NM_130811.4(SNAP25):c.292A>G (p.Ser98Gly)	Congenital myasthenic syndrome 18 [RCV002624903]	benign\|uncertain significance	20	10296935	10296935	Human	1	name
10401491	CV205317	single nucleotide variant	NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	Developmental and epileptic encephalopathy [RCV001706164]\|Focal epilepsy [RCV000190683]\|not provided [RCV001249220]	likely pathogenic\|not provided	20	10284751	10284751	Human	3	name
11531301	CV247437	single nucleotide variant	NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)	Congenital myasthenic syndrome 18 [RCV000170319]\|Developmental and epileptic encephalopathy [RCV001706282]\|Inborn genetic diseases [RCV004020985]	pathogenic\|likely pathogenic	20	10293197	10293197	Human	3	name
405117659	CV3027554	single nucleotide variant	NM_130811.4(SNAP25):c.176G>A (p.Arg59His)	Congenital myasthenic syndrome 18 [RCV003752589]	uncertain significance	20	10293173	10293173	Human	1	name
597730007	CV3597408	single nucleotide variant	NM_130811.4(SNAP25):c.190A>G (p.Met64Val)	Inborn genetic diseases [RCV004963848]	uncertain significance	20	10293187	10293187	Human	1	name
598224403	CV3892007	single nucleotide variant	NM_130811.4(SNAP25):c.127G>T (p.Gly43Cys)	SNAP25-related developmental delays and epileptic encephalopathies [RCV005253346]	uncertain significance	20	10284736	10284736	Human		name , trait
13816782	CV573458	single nucleotide variant	NM_130811.4(SNAP25):c.114G>C (p.Glu38Asp)	Congenital myasthenic syndrome 18 [RCV000692556]	uncertain significance	20	10277726	10277726	Human	1	name
13811974	CV573462	single nucleotide variant	NM_130811.4(SNAP25):c.256G>A (p.Gly86Arg)	Congenital myasthenic syndrome 18 [RCV000689120]\|not provided [RCV004799231]	uncertain significance	20	10293253	10293253	Human	1	name
25317241	CV805111	single nucleotide variant	NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr)	Congenital myasthenic syndrome 18 [RCV001007923]\|Developmental and epileptic encephalopathy [RCV001706716]	uncertain significance	20	10293217	10293217	Human	2	name
26886369	CV848196	single nucleotide variant	NM_130811.4(SNAP25):c.136A>C (p.Thr46Pro)	Congenital myasthenic syndrome 18 [RCV001044180]	uncertain significance	20	10284745	10284745	Human	1	name
126774019	CV1034583	single nucleotide variant	NM_130811.4(SNAP25):c.591A>C (p.Gln197His)	Congenital myasthenic syndrome 18 [RCV001346746]\|Inborn genetic diseases [RCV002357190]	uncertain significance	20	10306167	10306167	Human	2	name
127244003	CV1053808	single nucleotide variant	NM_130811.4(SNAP25):c.596C>T (p.Ala199Val)	Congenital myasthenic syndrome 18 [RCV001375964]\|Developmental and epileptic encephalopathy [RCV001706730]	likely pathogenic\|uncertain significance	20	10306172	10306172	Human	2	name
127243278	CV1056594	single nucleotide variant	NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)	Congenital myasthenic syndrome 18 [RCV001377079]\|Developmental and epileptic encephalopathy [RCV001706731]\|SNAP25 related neurodevelopmental disorder [RCV001810043]	likely pathogenic	20	10306169	10306169	Human	2	name , trait
150452990	CV1275365	single nucleotide variant	NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr)	Congenital myasthenic syndrome 18 [RCV005414278]\|Developmental and epileptic encephalopathy [RCV001706879]	pathogenic\|likely pathogenic	20	10299356	10299356	Human	2	name
150452998	CV1275366	single nucleotide variant	NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly)	Developmental and epileptic encephalopathy [RCV001706880]	likely pathogenic	20	10299357	10299357	Human	1	name
150453008	CV1275367	single nucleotide variant	NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro)	Developmental and epileptic encephalopathy [RCV001706881]	likely pathogenic	20	10299381	10299381	Human	1	name
150453016	CV1275368	single nucleotide variant	NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr)	Developmental and epileptic encephalopathy [RCV001706882]	likely pathogenic	20	10306151	10306151	Human	1	name
150453026	CV1275369	single nucleotide variant	NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly)	Developmental and epileptic encephalopathy [RCV001706883]\|Intellectual disability, severe [RCV003223425]	pathogenic\|likely pathogenic	20	10306172	10306172	Human	3	name
150453049	CV1275372	single nucleotide variant	NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter)	Congenital myasthenic syndrome 18 [RCV005414279]\|Developmental and epileptic encephalopathy [RCV001706886]	pathogenic\|likely pathogenic	20	10299380	10299380	Human	2	name
150453069	CV1275375	single nucleotide variant	NM_130811.4(SNAP25):c.404G>A (p.Arg135His)	Congenital myasthenic syndrome 18 [RCV002539715]\|Developmental and epileptic encephalopathy [RCV001706889]	uncertain significance	20	10297047	10297047	Human	2	name
150453082	CV1275377	single nucleotide variant	NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)	Developmental and epileptic encephalopathy [RCV001706891]\|Global developmental delay [RCV002468640]	likely pathogenic\|uncertain significance	20	10306177	10306177	Human	6	name
151727423	CV1408243	single nucleotide variant	NM_130811.4(SNAP25):c.356G>A (p.Arg119His)	Congenital myasthenic syndrome 18 [RCV001891900]	uncertain significance	20	10296999	10296999	Human	1	name
151825445	CV1418252	single nucleotide variant	NM_130811.4(SNAP25):c.527G>A (p.Arg176His)	Congenital myasthenic syndrome 18 [RCV001919978]	uncertain significance	20	10299387	10299387	Human	1	name
151734674	CV1453165	single nucleotide variant	NM_130811.4(SNAP25):c.487A>G (p.Met163Val)	Congenital myasthenic syndrome 18 [RCV002041570]	uncertain significance	20	10299347	10299347	Human	1	name
151667476	CV1498682	single nucleotide variant	NM_130811.4(SNAP25):c.425G>A (p.Arg142Gln)	Congenital myasthenic syndrome 18 [RCV002001437]	uncertain significance	20	10299285	10299285	Human	1	name
151848060	CV1502525	single nucleotide variant	NM_130811.4(SNAP25):c.463G>A (p.Gly155Ser)	Congenital myasthenic syndrome 18 [RCV001882229]	uncertain significance	20	10299323	10299323	Human	1	name
151745677	CV1502668	single nucleotide variant	NM_130811.4(SNAP25):c.514G>A (p.Asp172Asn)	Congenital myasthenic syndrome 18 [RCV001912391]\|not specified [RCV005419251]	likely benign\|uncertain significance	20	10299374	10299374	Human	1	name
151800156	CV1509444	single nucleotide variant	NM_130811.4(SNAP25):c.503G>T (p.Gly168Val)	Congenital myasthenic syndrome 18 [RCV001867051]	uncertain significance	20	10299363	10299363	Human	1	name
152129378	CV1650563	single nucleotide variant	NM_130811.4(SNAP25):c.424C>T (p.Arg142Ter)	Congenital myasthenic syndrome 18 [RCV002118871]	likely benign	20	10299284	10299284	Human	1	name
152980000	CV1675830	single nucleotide variant	NM_130811.4(SNAP25):c.526C>T (p.Arg176Cys)	not provided [RCV002244421]	uncertain significance	20	10299386	10299386	Human		name
155269011	CV1705841	single nucleotide variant	NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)	Developmental and epileptic encephalopathy, 2 [RCV002286496]	pathogenic	20	10306172	10306172	Human	1	name
155641826	CV1709953	single nucleotide variant	NM_130811.4(SNAP25):c.589C>G (p.Gln197Glu)	not provided [RCV002293053]	uncertain significance	20	10306165	10306165	Human		name
155645276	CV1710728	single nucleotide variant	NM_130811.4(SNAP25):c.529C>T (p.Gln177Ter)	Congenital myasthenic syndrome 18 [RCV002294544]	pathogenic	20	10299389	10299389	Human	1	name
156387977	CV1995956	single nucleotide variant	NM_130811.4(SNAP25):c.427G>C (p.Glu143Gln)	Congenital myasthenic syndrome 18 [RCV002654133]	likely benign	20	10299287	10299287	Human	1	name
155939875	CV1995968	single nucleotide variant	NM_130811.4(SNAP25):c.472G>A (p.Gly158Arg)	Congenital myasthenic syndrome 18 [RCV002685390]	likely benign	20	10299332	10299332	Human	1	name
156136983	CV2006428	single nucleotide variant	NM_130811.4(SNAP25):c.566A>C (p.Lys189Thr)	Congenital myasthenic syndrome 18 [RCV002663426]	uncertain significance	20	10306142	10306142	Human	1	name
155997654	CV2045350	single nucleotide variant	NM_130811.4(SNAP25):c.331G>A (p.Gly111Arg)	Congenital myasthenic syndrome 18 [RCV002756043]	likely benign\|uncertain significance	20	10296974	10296974	Human	1	name
401944627	CV2840395	single nucleotide variant	NM_130811.4(SNAP25):c.601A>G (p.Lys201Glu)	not provided [RCV003457330]	uncertain significance	20	10306177	10306177	Human		name
405189412	CV2865401	single nucleotide variant	NM_130811.4(SNAP25):c.469A>G (p.Ile157Val)	Congenital myasthenic syndrome 18 [RCV003589638]	uncertain significance	20	10299329	10299329	Human	1	name
405184462	CV2903036	single nucleotide variant	NM_130811.4(SNAP25):c.437T>A (p.Met146Lys)	Congenital myasthenic syndrome 18 [RCV003589197]	uncertain significance	20	10299297	10299297	Human	1	name
405179523	CV2904714	single nucleotide variant	NM_130811.4(SNAP25):c.568A>G (p.Thr190Ala)	Congenital myasthenic syndrome 18 [RCV003588479]	uncertain significance	20	10306144	10306144	Human	1	name
405191985	CV2916669	single nucleotide variant	NM_130811.4(SNAP25):c.488T>G (p.Met163Arg)	Congenital myasthenic syndrome 18 [RCV003590055]\|Inborn genetic diseases [RCV004676235]	likely pathogenic\|uncertain significance	20	10299348	10299348	Human	2	name
405108845	CV2961023	single nucleotide variant	NM_130811.4(SNAP25):c.592C>T (p.Arg198Cys)	Congenital myasthenic syndrome 18 [RCV003751154]	uncertain significance	20	10306168	10306168	Human	1	name
405112832	CV2976449	single nucleotide variant	NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)	Congenital myasthenic syndrome 18 [RCV003751803]	likely pathogenic	20	10299402	10299402	Human	1	name
405112899	CV2976710	single nucleotide variant	NM_130811.4(SNAP25):c.491C>A (p.Ala164Asp)	Congenital myasthenic syndrome 18 [RCV003751824]	uncertain significance	20	10299351	10299351	Human	1	name
405113591	CV2990613	single nucleotide variant	NM_130811.4(SNAP25):c.511A>G (p.Ile171Val)	Congenital myasthenic syndrome 18 [RCV003751996]	uncertain significance	20	10299371	10299371	Human	1	name
405113775	CV2998022	single nucleotide variant	NM_130811.4(SNAP25):c.614G>A (p.Ser205Asn)	Congenital myasthenic syndrome 18 [RCV003752027]	uncertain significance	20	10306190	10306190	Human	1	name
405111357	CV3077878	single nucleotide variant	NM_130811.4(SNAP25):c.403C>T (p.Arg135Cys)	Congenital myasthenic syndrome 18 [RCV003751612]	uncertain significance	20	10297046	10297046	Human	1	name
405119542	CV3134765	single nucleotide variant	NM_130811.4(SNAP25):c.371G>A (p.Arg124Gln)	Congenital myasthenic syndrome 18 [RCV003837175]	uncertain significance	20	10297014	10297014	Human	1	name
597946584	CV3774911	single nucleotide variant	NM_130811.4(SNAP25):c.595G>A (p.Ala199Thr)	Congenital myasthenic syndrome 18 [RCV005120008]	uncertain significance	20	10306171	10306171	Human	1	name
597964036	CV3792119	single nucleotide variant	NM_130811.4(SNAP25):c.482G>A (p.Arg161His)	Congenital myasthenic syndrome 18 [RCV005139675]	uncertain significance	20	10299342	10299342	Human	1	name
597955519	CV3809484	single nucleotide variant	NM_130811.4(SNAP25):c.535G>A (p.Asp179Asn)	Congenital myasthenic syndrome 18 [RCV005162209]	uncertain significance	20	10299395	10299395	Human	1	name
14734130	CV648567	single nucleotide variant	NM_130811.4(SNAP25):c.358G>A (p.Val120Ile)	Congenital myasthenic syndrome 18 [RCV000818985]	uncertain significance	20	10297001	10297001	Human	1	name
14742355	CV648568	single nucleotide variant	NM_130811.4(SNAP25):c.503G>A (p.Gly168Asp)	Congenital myasthenic syndrome 18 [RCV000822738]	uncertain significance	20	10299363	10299363	Human	1	name
21073183	CV791967	single nucleotide variant	NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro)	Congenital myasthenic syndrome 18 [RCV000990282]	likely pathogenic	20	10306129	10306129	Human	1	name
21068125	CV797949	single nucleotide variant	NM_130811.4(SNAP25):c.327G>C (p.Gln109His)	not provided [RCV000997743]	uncertain significance	20	10296970	10296970	Human		name
38482755	CV929139	single nucleotide variant	NM_130811.4(SNAP25):c.569C>T (p.Thr190Ile)	Congenital myasthenic syndrome 18 [RCV001218639]\|Inborn genetic diseases [RCV004963226]	uncertain significance	20	10306145	10306145	Human	2	name
38489182	CV938902	single nucleotide variant	NM_130811.4(SNAP25):c.377A>G (p.Gln126Arg)	Congenital myasthenic syndrome 18 [RCV001210093]	uncertain significance	20	10297020	10297020	Human	1	name
38458288	CV938903	single nucleotide variant	NM_130811.4(SNAP25):c.394G>A (p.Gly132Ser)	Congenital myasthenic syndrome 18 [RCV001211360]\|not provided [RCV004704472]	likely benign\|uncertain significance	20	10297037	10297037	Human	1	name
40888103	CV974505	single nucleotide variant	NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)	Congenital myasthenic syndrome 18 [RCV001267654]\|Developmental and epileptic encephalopathy [RCV001706728]\|Neurodevelopmental disorder [RCV004594262]\|SNAP25-related disorder [RCV004727065]\|SNAP25-related early-onset developm ... (more) ental and epileptic encephalopathy [RCV001724282]\|not provided [RCV004727064]	likely pathogenic	20	10306165	10306165	Human	3	name , trait
156193353	CV2024239	microsatellite	NM_130811.4(SNAP25):c.34GAG[1] (p.Glu13del)	Congenital myasthenic syndrome 18 [RCV002711161]	uncertain significance	20	10275524	10275526	Human		name
405854714	CV3394827	deletion	NM_130811.4(SNAP25):c.550_552del (p.Lys184del)	Congenital myasthenic syndrome 18 [RCV004551167]	likely pathogenic	20	10299408	10299410	Human	1	name
151799214	CV1373851	deletion	NM_130811.4(SNAP25):c.57_68del (p.Gln20_Asp23del)	Congenital myasthenic syndrome 18 [RCV001917555]	likely benign\|uncertain significance	20	10275542	10275553	Human	1	name
151728780	CV1517571	deletion	NM_130811.4(SNAP25):c.524_532del (p.Asn175_Gln177del)	SNAP25-related disorder [RCV002052187]	uncertain significance	20	10299380	10299388	Human		name , trait
38488124	CV929138	duplication	NM_130811.4(SNAP25):c.144_146dup (p.Val48_Met49insIle)	Congenital myasthenic syndrome 18 [RCV001221041]	uncertain significance	20	10284751	10284752	Human	1	name
405114520	CV2991879	duplication	NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)	Congenital myasthenic syndrome 18 [RCV003752065]	likely pathogenic	20	10299367	10299368	Human	1	name

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