Cacna1e Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1001 records found for search term Cacna1e

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150489084	CV1250487	single nucleotide variant	NM_001205293.3(CACNA1E):c.*13C>A	not provided [RCV001674449]	benign	1	181798847	181798847	Human		name
150465702	CV1218065	single nucleotide variant	NM_001205293.3(CACNA1E):c.*216T>C	not provided [RCV001614191]	benign	1	181799050	181799050	Human		name
150529516	CV1052839	single nucleotide variant	NM_001205293.3(CACNA1E):c.616+3G>A	Developmental and epileptic encephalopathy, 69 [RCV001726507]	uncertain significance	1	181577872	181577872	Human	1	name
8575194	CV109539	single nucleotide variant	NM_000721.3(CACNA1E):c.266+6074A>C	Lung cancer [RCV000090064]	uncertain significance	1	181490084	181490084	Human		name
8575195	CV109540	single nucleotide variant	NM_000721.3(CACNA1E):c.266+7562C>G	Lung cancer [RCV000090065]	uncertain significance	1	181491572	181491572	Human		name
8575196	CV109541	single nucleotide variant	NM_000721.3(CACNA1E):c.267-1337T>A	Lung cancer [RCV000090066]	uncertain significance	1	181509140	181509140	Human		name
8575197	CV109542	single nucleotide variant	NM_000721.3(CACNA1E):c.1055+420T>A	Lung cancer [RCV000090067]	uncertain significance	1	181651861	181651861	Human		name
150533422	CV1292719	single nucleotide variant	NM_001205293.3(CACNA1E):c.952-1G>C	not provided [RCV001754327]	uncertain significance	1	181651337	181651337	Human		name
150532203	CV1294476	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-1C>T	not provided [RCV001751968]	uncertain significance	1	181510476	181510476	Human		name
151892550	CV1493628	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+4G>T	not provided [RCV001944230]	uncertain significance	1	181579228	181579228	Human		name
152169907	CV1538770	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-6T>G	not provided [RCV002182967]	likely benign	1	181510471	181510471	Human		name
152132262	CV1621334	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+9G>A	not provided [RCV002218234]	likely benign	1	181579233	181579233	Human		name
152081113	CV1641311	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-7T>A	not provided [RCV002211432]	likely benign	1	181510470	181510470	Human		name
156418882	CV1918904	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+8A>G	not provided [RCV002612092]	likely benign	1	181510590	181510590	Human		name
156257135	CV1957087	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+8C>T	not provided [RCV002576724]	likely benign	1	181579232	181579232	Human		name
156254281	CV1981664	single nucleotide variant	NM_001205293.3(CACNA1E):c.373-8C>T	not provided [RCV002645998]	likely benign	1	181511363	181511363	Human		name
156367794	CV2007453	single nucleotide variant	NM_001205293.3(CACNA1E):c.951+8G>A	not provided [RCV002676685]	likely benign	1	181580784	181580784	Human		name
156037096	CV2119987	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+7T>C	not provided [RCV002949470]	likely benign	1	181579231	181579231	Human		name
156355211	CV2188710	single nucleotide variant	NM_001205293.3(CACNA1E):c.951+3G>A	not provided [RCV003048636]	uncertain significance	1	181580779	181580779	Human		name
405018332	CV2866031	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+1G>A	not provided [RCV003577368]	uncertain significance	1	181579225	181579225	Human		name
402473238	CV2908853	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+7G>A	not provided [RCV003570945]	likely benign	1	181510589	181510589	Human		name
402477814	CV2914454	single nucleotide variant	NM_001205293.3(CACNA1E):c.617-3T>C	not provided [RCV003571719]	benign	1	181579069	181579069	Human		name
405143296	CV2958939	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+4T>A	not provided [RCV003673423]	uncertain significance	1	181510586	181510586	Human		name
405055101	CV3023210	single nucleotide variant	NM_001205293.3(CACNA1E):c.617-4C>G	not provided [RCV003697283]	likely benign	1	181579068	181579068	Human		name
405055489	CV3023259	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+3A>T	not provided [RCV003697310]	uncertain significance	1	181510585	181510585	Human		name
597961882	CV3795295	single nucleotide variant	NM_001205293.3(CACNA1E):c.770-5T>C	not provided [RCV005138987]	likely benign	1	181580590	181580590	Human		name
597964965	CV3830653	single nucleotide variant	NM_001205293.3(CACNA1E):c.373-9T>C	not provided [RCV005164793]	likely benign	1	181511362	181511362	Human		name
127256181	CV1066484	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-5C>T	not provided [RCV001418996]	likely benign	1	181737520	181737520	Human		name
8575198	CV109543	single nucleotide variant	NM_000721.3(CACNA1E):c.1055+2662A>T	Lung cancer [RCV000090068]	uncertain significance	1	181654103	181654103	Human		name
8575199	CV109544	single nucleotide variant	NM_000721.3(CACNA1E):c.1056-9831G>A	Lung cancer [RCV000090069]	uncertain significance	1	181701123	181701123	Human		name
8575200	CV109545	single nucleotide variant	NM_000721.3(CACNA1E):c.1056-4664C>T	Lung cancer [RCV000090070]	uncertain significance	1	181706290	181706290	Human		name
150464138	CV1214888	single nucleotide variant	NM_001205293.3(CACNA1E):c.373-85C>T	not provided [RCV001613884]	benign	1	181511286	181511286	Human		name
150517353	CV1226802	single nucleotide variant	NM_001205293.3(CACNA1E):c.770-47G>A	not provided [RCV001639896]	benign	1	181580548	181580548	Human		name
150514781	CV1228629	single nucleotide variant	NM_001205293.3(CACNA1E):c.6399+3G>A	Developmental and epileptic encephalopathy, 69 [RCV003446852]\|Inborn genetic diseases [RCV004968226]\|not provided [RCV001638617]	benign\|likely benign	1	181796861	181796861	Human	2	name
150430478	CV1243324	single nucleotide variant	NM_001205293.3(CACNA1E):c.1225+262=	not provided [RCV001662941]	benign	1	181715653	181715653	Human		name
150495798	CV1283068	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-8G>A	CACNA1E-related disorder [RCV003976078]\|Developmental and epileptic encephalopathy, 69 [RCV003446877]\|not provided [RCV001717467]	benign	1	181710946	181710946	Human	1	name , alternate_id
150530156	CV1291424	single nucleotide variant	NM_001205293.3(CACNA1E):c.513-29C>A	not provided [RCV001732767]	likely benign	1	181577737	181577737	Human		name
150531902	CV1291496	single nucleotide variant	NM_001205293.3(CACNA1E):c.373-14C>T	Developmental and epileptic encephalopathy, 69 [RCV003446881]\|not provided [RCV001733287]	benign\|likely benign	1	181511357	181511357	Human	1	name
150536526	CV1293128	single nucleotide variant	NM_001205293.3(CACNA1E):c.4816-3C>T	Developmental and epileptic encephalopathy, 69 [RCV003446883]\|Inborn genetic diseases [RCV002539865]\|not provided [RCV001762914]	benign\|likely benign	1	181766543	181766543	Human	2	name
150540943	CV1297218	single nucleotide variant	NM_001205293.3(CACNA1E):c.3719+6T>A	not provided [RCV001766900]	conflicting interpretations of pathogenicity\|uncertain significance	1	181739259	181739259	Human		name
150543557	CV1309527	single nucleotide variant	NM_001205293.3(CACNA1E):c.3613-6C>G	not provided [RCV003238579]	uncertain significance	1	181739141	181739141	Human		name
151235050	CV1318309	single nucleotide variant	NM_001205293.3(CACNA1E):c.617-16C>T	Developmental and epileptic encephalopathy, 69 [RCV003446920]\|not provided [RCV001794632]	likely benign	1	181579056	181579056	Human	1	name
151864065	CV1336769	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-3C>T	Inborn genetic diseases [RCV005308520]\|not provided [RCV002034814]	conflicting interpretations of pathogenicity\|uncertain significance	1	181762571	181762571	Human	1	name
151784574	CV1344162	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-18T>G	not provided [RCV002046477]	likely benign\|uncertain significance	1	181510459	181510459	Human		name
151815246	CV1350013	single nucleotide variant	NM_001205293.3(CACNA1E):c.4882-7C>A	not provided [RCV002012839]	likely benign\|uncertain significance	1	181771286	181771286	Human		name
151879874	CV1359933	single nucleotide variant	NM_001205293.3(CACNA1E):c.5786+3G>A	not provided [RCV002036713]	uncertain significance	1	181785822	181785822	Human		name
151820231	CV1363348	single nucleotide variant	NM_001205293.3(CACNA1E):c.5898+6T>G	not provided [RCV002049720]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	181790562	181790562	Human		name
151749818	CV1380994	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+8G>A	not provided [RCV002023263]	likely benign\|uncertain significance	1	181776236	181776236	Human		name
151792241	CV1399263	single nucleotide variant	NM_001205293.3(CACNA1E):c.6399+6C>A	not provided [RCV001898288]	uncertain significance	1	181796864	181796864	Human		name
151789989	CV1399746	single nucleotide variant	NM_001205293.3(CACNA1E):c.3720-4A>G	not provided [RCV001916724]	likely benign\|uncertain significance	1	181750472	181750472	Human		name
151772446	CV1402674	single nucleotide variant	NM_001205293.3(CACNA1E):c.5679+5A>T	not provided [RCV001896473]	uncertain significance	1	181785423	181785423	Human		name
151793460	CV1422444	single nucleotide variant	NM_001205293.3(CACNA1E):c.5268-7T>C	not provided [RCV001898399]	likely benign\|uncertain significance	1	181781420	181781420	Human		name
151729882	CV1441016	single nucleotide variant	NM_001205293.3(CACNA1E):c.5578+6G>T	not provided [RCV001945928]	benign\|uncertain significance	1	181784774	181784774	Human		name
151888640	CV1468437	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+4G>A	not provided [RCV002001127]	likely benign\|uncertain significance	1	181737658	181737658	Human		name
151744318	CV1494851	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+4A>G	not provided [RCV001985560]	uncertain significance	1	181755401	181755401	Human		name
151868991	CV1497512	single nucleotide variant	NM_001205293.3(CACNA1E):c.6399+6C>T	not provided [RCV001960184]	benign\|uncertain significance	1	181796864	181796864	Human		name
152058531	CV1523342	single nucleotide variant	NM_001205293.3(CACNA1E):c.1171+9G>C	not provided [RCV002167731]	likely benign	1	181711078	181711078	Human		name
152082426	CV1526189	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+6T>C	not provided [RCV002170713]	likely benign	1	181755403	181755403	Human		name
152110650	CV1537025	single nucleotide variant	NM_001205293.3(CACNA1E):c.617-18C>G	not provided [RCV002215438]	likely benign	1	181579054	181579054	Human		name
152044996	CV1539419	single nucleotide variant	NM_001205293.3(CACNA1E):c.1639-7T>C	not provided [RCV002144987]	likely benign	1	181719744	181719744	Human		name
152168682	CV1545479	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-10G>T	not provided [RCV002142531]	likely benign	1	181510467	181510467	Human		name
152103303	CV1548551	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-6C>T	not provided [RCV002079268]	benign	1	181710948	181710948	Human		name
152047045	CV1561542	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+19G>A	not provided [RCV002108463]	likely benign	1	181579243	181579243	Human		name
152088579	CV1562949	single nucleotide variant	NM_001205293.3(CACNA1E):c.2143-6G>A	not provided [RCV002113756]	likely benign	1	181726059	181726059	Human		name
152149253	CV1566496	single nucleotide variant	NM_001205293.3(CACNA1E):c.952-13T>C	not provided [RCV002139267]	likely benign	1	181651325	181651325	Human		name
152167006	CV1577337	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+20T>C	not provided [RCV002204598]	likely benign	1	181579244	181579244	Human		name
152026356	CV1582796	single nucleotide variant	NM_001205293.3(CACNA1E):c.4689+5A>G	Inborn genetic diseases [RCV002552355]\|not provided [RCV002084770]	likely benign\|uncertain significance	1	181762662	181762662	Human	1	name
152035341	CV1583037	single nucleotide variant	NM_001205293.3(CACNA1E):c.4605+9C>A	not provided [RCV002106890]	likely benign	1	181758877	181758877	Human		name
152171798	CV1597803	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+8C>T	not provided [RCV002162238]	likely benign	1	181755405	181755405	Human		name
152171991	CV1597933	single nucleotide variant	NM_001205293.3(CACNA1E):c.266+16C>T	not provided [RCV002162300]	likely benign	1	181484026	181484026	Human		name
152172003	CV1597941	single nucleotide variant	NM_001205293.3(CACNA1E):c.4816-7C>T	not provided [RCV002162305]	likely benign	1	181766539	181766539	Human		name
152037504	CV1605640	single nucleotide variant	NM_001205293.3(CACNA1E):c.4330-5T>C	not provided [RCV002087463]	likely benign	1	181757942	181757942	Human		name
152082898	CV1608155	single nucleotide variant	NM_001205293.3(CACNA1E):c.5579-8G>A	not provided [RCV002193256]	likely benign	1	181785310	181785310	Human		name
152165851	CV1611463	single nucleotide variant	NM_001205293.3(CACNA1E):c.952-19C>A	not provided [RCV002141802]	likely benign	1	181651319	181651319	Human		name
152111622	CV1618495	single nucleotide variant	NM_001205293.3(CACNA1E):c.512+20C>A	not provided [RCV002080330]	likely benign	1	181511530	181511530	Human		name
152079363	CV1620549	single nucleotide variant	NM_001205293.3(CACNA1E):c.6399+7G>A	not provided [RCV002112540]	benign	1	181796865	181796865	Human		name
152140895	CV1625212	single nucleotide variant	NM_001205293.3(CACNA1E):c.1172-4A>G	not provided [RCV002219357]	benign	1	181715334	181715334	Human		name
152145799	CV1642204	deletion	NM_001205293.3(CACNA1E):c.372+14del	not provided [RCV002101447]	benign	1	181510593	181510593	Human		name
152056278	CV1649518	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+8C>T	not provided [RCV002127817]	likely benign	1	181718175	181718175	Human		name
152144777	CV1651735	single nucleotide variant	NM_001205293.3(CACNA1E):c.4329+8C>T	not provided [RCV002138651]	likely benign	1	181757134	181757134	Human		name
152148099	CV1653864	single nucleotide variant	NM_001205293.3(CACNA1E):c.3612+7A>C	not provided [RCV002139105]	likely benign	1	181738433	181738433	Human		name
152091567	CV1655045	single nucleotide variant	NM_001205293.3(CACNA1E):c.4330-9T>C	not provided [RCV002212798]	likely benign	1	181757938	181757938	Human		name
152137906	CV1657749	single nucleotide variant	NM_001205293.3(CACNA1E):c.1883+8C>T	not provided [RCV002177664]	likely benign	1	181720345	181720345	Human		name
152117983	CV1658964	single nucleotide variant	NM_001205293.3(CACNA1E):c.770-12A>T	not provided [RCV002175190]	likely benign	1	181580583	181580583	Human		name
152079436	CV1663404	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+12C>A	not provided [RCV002149108]	benign	1	181510594	181510594	Human		name
152981485	CV1676816	single nucleotide variant	NM_001205293.3(CACNA1E):c.1883+9C>G	Developmental and epileptic encephalopathy, 69 [RCV003445153]\|not provided [RCV003093978]\|not specified [RCV002247882]	benign\|likely benign	1	181720346	181720346	Human	1	name
153304352	CV1686969	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+5G>A	not provided [RCV002262256]	conflicting interpretations of pathogenicity\|uncertain significance	1	181776233	181776233	Human		name
155803888	CV1858455	single nucleotide variant	NM_001205293.3(CACNA1E):c.2948+4A>G	not provided [RCV002462765]	uncertain significance	1	181733038	181733038	Human		name
156317247	CV1901310	single nucleotide variant	NM_001205293.3(CACNA1E):c.3732-3C>T	not provided [RCV002579019]	uncertain significance	1	181752140	181752140	Human		name
156016457	CV1912850	single nucleotide variant	NM_001205293.3(CACNA1E):c.5364+8A>G	not provided [RCV002619169]	likely benign	1	181781531	181781531	Human		name
156361475	CV1931683	single nucleotide variant	NM_001205293.3(CACNA1E):c.1639-4C>G	not provided [RCV002632706]	likely benign	1	181719747	181719747	Human		name
156437181	CV1937009	single nucleotide variant	NM_001205293.3(CACNA1E):c.5680-5C>T	not provided [RCV003106712]	likely benign	1	181785708	181785708	Human		name
156448955	CV1948266	single nucleotide variant	NM_001205293.3(CACNA1E):c.3613-4G>T	not provided [RCV003121063]	likely benign	1	181739143	181739143	Human		name
156390380	CV1964789	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-4G>C	not provided [RCV002583815]	likely benign	1	181737521	181737521	Human		name
156327976	CV1969738	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+9A>C	not provided [RCV002600634]	likely benign	1	181771393	181771393	Human		name
156008640	CV1981456	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-4G>A	not provided [RCV002618787]	likely benign\|conflicting interpretations of pathogenicity	1	181737521	181737521	Human		name
156305649	CV1999823	single nucleotide variant	NM_001205293.3(CACNA1E):c.266+19C>T	not provided [RCV002671369]	likely benign	1	181484029	181484029	Human		name
156301325	CV2002199	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+5C>G	not provided [RCV002671173]	benign	1	181771389	181771389	Human		name
155956524	CV2010470	single nucleotide variant	NM_001205293.3(CACNA1E):c.5679+7G>A	not provided [RCV002686294]	likely benign	1	181785425	181785425	Human		name
156083168	CV2012085	single nucleotide variant	NM_001205293.3(CACNA1E):c.1226-4G>A	not provided [RCV002706056]	likely benign	1	181716036	181716036	Human		name
156219704	CV2015439	single nucleotide variant	NM_001205293.3(CACNA1E):c.1526-7C>T	not provided [RCV002700958]	likely benign	1	181718048	181718048	Human		name
156167885	CV2019824	single nucleotide variant	NM_001205293.3(CACNA1E):c.2949-8C>G	not provided [RCV002710393]	likely benign	1	181733429	181733429	Human		name
156195132	CV2024310	single nucleotide variant	NM_001205293.3(CACNA1E):c.951+18G>A	not provided [RCV002711214]	likely benign	1	181580794	181580794	Human		name
156377039	CV2024821	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+9A>T	not provided [RCV002722007]	likely benign	1	181771393	181771393	Human		name
156216217	CV2028672	single nucleotide variant	NM_001205293.3(CACNA1E):c.3720-8C>T	not provided [RCV002711962]	likely benign	1	181750468	181750468	Human		name
156378684	CV2032688	single nucleotide variant	NM_001205293.3(CACNA1E):c.266+11T>C	not provided [RCV002722137]	likely benign	1	181484021	181484021	Human		name
156378699	CV2032689	single nucleotide variant	NM_001205293.3(CACNA1E):c.266+20A>G	not provided [RCV002722138]	likely benign	1	181484030	181484030	Human		name
156120272	CV2039823	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-10G>A	not provided [RCV002785762]	likely benign	1	181510467	181510467	Human		name
155939625	CV2041705	deletion	NM_001205293.3(CACNA1E):c.5578+4del	not provided [RCV002775105]	uncertain significance	1	181784770	181784770	Human		name
156373549	CV2052641	single nucleotide variant	NM_001205293.3(CACNA1E):c.4690-3C>T	not provided [RCV002814493]	uncertain significance	1	181763403	181763403	Human		name
156374239	CV2052906	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+8G>A	not provided [RCV002814555]	likely benign	1	181771392	181771392	Human		name
156291119	CV2060307	single nucleotide variant	NM_001205293.3(CACNA1E):c.4882-8T>C	not provided [RCV002807352]	likely benign	1	181771285	181771285	Human		name
156182493	CV2068550	single nucleotide variant	NM_001205293.3(CACNA1E):c.1172-9T>G	not provided [RCV002851877]	uncertain significance	1	181715329	181715329	Human		name
156044436	CV2071836	single nucleotide variant	NM_001205293.3(CACNA1E):c.770-18C>T	not provided [RCV002846222]	likely benign	1	181580577	181580577	Human		name
155908570	CV2072805	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+6T>A	not provided [RCV002837536]	uncertain significance	1	181718173	181718173	Human		name
155979378	CV2073275	single nucleotide variant	NM_001205293.3(CACNA1E):c.3719+1G>A	Developmental and epileptic encephalopathy, 69 [RCV003445180]\|not provided [RCV002842442]	uncertain significance	1	181739254	181739254	Human	1	name
155970984	CV2077208	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-9A>G	not provided [RCV002863314]	likely benign	1	181762565	181762565	Human		name
156237636	CV2081902	single nucleotide variant	NM_001205293.3(CACNA1E):c.3720-6C>T	not provided [RCV002876479]	likely benign	1	181750470	181750470	Human		name
156112889	CV2088345	single nucleotide variant	NM_001205293.3(CACNA1E):c.2075-4C>G	not provided [RCV002889260]	likely benign	1	181724466	181724466	Human		name
156038315	CV2089504	single nucleotide variant	NM_001205293.3(CACNA1E):c.5679+9C>G	not provided [RCV002867337]	likely benign	1	181785427	181785427	Human		name
156232891	CV2093905	single nucleotide variant	NM_001205293.3(CACNA1E):c.3263-9C>T	not provided [RCV002894621]	likely benign	1	181736266	181736266	Human		name
156214106	CV2110831	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+19G>C	not provided [RCV002918285]	likely benign	1	181579243	181579243	Human		name
156219617	CV2132808	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+7A>G	not provided [RCV003007325]	likely benign	1	181750494	181750494	Human		name
156110973	CV2146097	single nucleotide variant	NM_001205293.3(CACNA1E):c.6028-8A>G	not provided [RCV003021410]	likely benign	1	181794856	181794856	Human		name
156234093	CV2153394	single nucleotide variant	NM_001205293.3(CACNA1E):c.951+19G>A	not provided [RCV003025756]	likely benign	1	181580795	181580795	Human		name
156299647	CV2153522	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-16A>C	not provided [RCV003028028]	likely benign	1	181510461	181510461	Human		name
155931401	CV2156616	single nucleotide variant	NM_001205293.3(CACNA1E):c.4329+9A>G	not provided [RCV003013652]	likely benign	1	181757135	181757135	Human		name
156196484	CV2157218	single nucleotide variant	NM_001205293.3(CACNA1E):c.2298-7T>C	not provided [RCV003006177]	likely benign	1	181732377	181732377	Human		name
155954208	CV2161537	single nucleotide variant	NM_001205293.3(CACNA1E):c.5365-6A>G	not provided [RCV003032595]	likely benign	1	181783673	181783673	Human		name
156366020	CV2163459	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+11C>G	not provided [RCV003031887]	likely benign	1	181510593	181510593	Human		name
156026098	CV2185586	single nucleotide variant	NM_001205293.3(CACNA1E):c.2240+7C>T	not provided [RCV003035971]	likely benign	1	181726169	181726169	Human		name
156253397	CV2212550	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-4G>A	Inborn genetic diseases [RCV002702582]	uncertain significance	1	181762570	181762570	Human	1	name
156112968	CV2228602	single nucleotide variant	NM_001205293.3(CACNA1E):c.6209-3C>T	Inborn genetic diseases [RCV002761801]	uncertain significance	1	181796665	181796665	Human	1	name
401749669	CV2694706	single nucleotide variant	NM_001205293.3(CACNA1E):c.2075-5C>T	Inborn genetic diseases [RCV003253381]	uncertain significance	1	181724465	181724465	Human	1	name
401796848	CV2739823	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+1G>C	not provided [RCV003319784]	uncertain significance	1	181718168	181718168	Human		name
401829085	CV2743590	single nucleotide variant	NM_001205293.3(CACNA1E):c.6399+6C>G	not provided [RCV003326766]	uncertain significance	1	181796864	181796864	Human		name
404986502	CV2852393	single nucleotide variant	NM_001205293.3(CACNA1E):c.2143-1G>T	not specified [RCV003489628]	uncertain significance	1	181726064	181726064	Human		name
405090816	CV2859416	single nucleotide variant	NM_001205293.3(CACNA1E):c.5268-5A>G	not provided [RCV003549888]	likely benign	1	181781422	181781422	Human		name
402497705	CV2871651	single nucleotide variant	NM_001205293.3(CACNA1E):c.1055+9G>T	not provided [RCV003545587]	likely benign	1	181651450	181651450	Human		name
405074185	CV2873113	single nucleotide variant	NM_001205293.3(CACNA1E):c.770-14A>G	not provided [RCV003548714]	likely benign	1	181580581	181580581	Human		name
402518356	CV2877208	single nucleotide variant	NM_001205293.3(CACNA1E):c.2240+8A>T	not provided [RCV003575660]	likely benign	1	181726170	181726170	Human		name
405213055	CV2878786	single nucleotide variant	NM_001205293.3(CACNA1E):c.512+17T>C	not provided [RCV003552842]	likely benign	1	181511527	181511527	Human		name
405217942	CV2897264	deletion	NM_001205293.3(CACNA1E):c.4329+4del	not provided [RCV003567907]	benign	1	181757129	181757129	Human		name
402522487	CV2900137	single nucleotide variant	NM_001205293.3(CACNA1E):c.4495-3C>T	not provided [RCV003575967]	uncertain significance	1	181758755	181758755	Human		name
405055171	CV2931926	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+9G>A	not provided [RCV003580081]	likely benign	1	181750496	181750496	Human		name
405056889	CV2932122	single nucleotide variant	NM_001205293.3(CACNA1E):c.4605+4T>G	not provided [RCV003580189]	uncertain significance	1	181758872	181758872	Human		name
405112535	CV2938991	single nucleotide variant	NM_001205293.3(CACNA1E):c.1171+9G>A	not provided [RCV003666495]	likely benign	1	181711078	181711078	Human		name
405181084	CV2956343	single nucleotide variant	NM_001205293.3(CACNA1E):c.2297+9G>A	not provided [RCV003676272]	benign	1	181731240	181731240	Human		name
405134302	CV2959478	single nucleotide variant	NM_001205293.3(CACNA1E):c.2298-4G>T	not provided [RCV003668655]	likely benign	1	181732380	181732380	Human		name
405178382	CV2962131	single nucleotide variant	NM_001205293.3(CACNA1E):c.4494+7G>A	not provided [RCV003676035]	likely benign	1	181758118	181758118	Human		name
405199907	CV2969402	single nucleotide variant	NM_001205293.3(CACNA1E):c.4689+8G>A	not provided [RCV003678007]	likely benign	1	181762665	181762665	Human		name
405196625	CV2976097	single nucleotide variant	NM_001205293.3(CACNA1E):c.1055+9G>A	not provided [RCV003677728]	likely benign	1	181651450	181651450	Human		name
402490810	CV2980929	single nucleotide variant	NM_001205293.3(CACNA1E):c.512+19T>G	not provided [RCV003713755]	likely benign	1	181511529	181511529	Human		name
405238986	CV2983241	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+7C>G	not provided [RCV003683610]	likely benign	1	181736441	181736441	Human		name
405191793	CV2984877	single nucleotide variant	NM_001205293.3(CACNA1E):c.770-19C>T	not provided [RCV003706531]	likely benign	1	181580576	181580576	Human		name
402514942	CV2993157	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+8G>A	not provided [RCV003715993]	likely benign	1	181720863	181720863	Human		name
404986550	CV3001565	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+20C>T	not provided [RCV003691882]	likely benign	1	181510602	181510602	Human		name
404997219	CV3012447	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+19T>C	not provided [RCV003692814]	likely benign	1	181510601	181510601	Human		name
402478432	CV3032981	single nucleotide variant	NM_001205293.3(CACNA1E):c.3553-9G>A	not provided [RCV003712563]	likely benign	1	181738358	181738358	Human		name
405219422	CV3035081	single nucleotide variant	NM_001205293.3(CACNA1E):c.6209-5C>T	not provided [RCV003709749]	likely benign	1	181796663	181796663	Human		name
405156054	CV3037361	single nucleotide variant	NM_001205293.3(CACNA1E):c.5578+9C>G	not provided [RCV003703625]	likely benign	1	181784777	181784777	Human		name
405202178	CV3038486	single nucleotide variant	NM_001205293.3(CACNA1E):c.2949-3C>T	not provided [RCV003707552]	benign	1	181733434	181733434	Human		name
405129182	CV3054479	single nucleotide variant	NM_001205293.3(CACNA1E):c.2075-7A>G	not provided [RCV003724670]	likely benign	1	181724463	181724463	Human		name
405199136	CV3128793	single nucleotide variant	NM_001205293.3(CACNA1E):c.2143-7T>G	not provided [RCV003821836]	uncertain significance	1	181726058	181726058	Human		name
405134973	CV3133954	single nucleotide variant	NM_001205293.3(CACNA1E):c.6208+3G>A	not provided [RCV003838733]	uncertain significance	1	181795047	181795047	Human		name
405073760	CV3136511	single nucleotide variant	NM_001205293.3(CACNA1E):c.5364+9C>T	not provided [RCV003833601]	likely benign	1	181781532	181781532	Human		name
405050891	CV3138061	single nucleotide variant	NM_001205293.3(CACNA1E):c.1525+7A>G	not provided [RCV003832099]	likely benign	1	181717309	181717309	Human		name
405096321	CV3148070	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-9T>G	not provided [RCV003852700]	likely benign	1	181737516	181737516	Human		name
405062620	CV3148432	single nucleotide variant	NM_001205293.3(CACNA1E):c.3262+7G>A	not provided [RCV003850388]	likely benign	1	181733757	181733757	Human		name
405155618	CV3152448	single nucleotide variant	NM_001205293.3(CACNA1E):c.1884-4T>C	not provided [RCV003840375]	likely benign	1	181720779	181720779	Human		name
405192131	CV3157160	single nucleotide variant	NM_001205293.3(CACNA1E):c.1226-4G>T	not provided [RCV003859848]	likely benign	1	181716036	181716036	Human		name
405158833	CV3159771	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-5G>T	not provided [RCV003856842]	likely benign	1	181762569	181762569	Human		name
404981515	CV3183527	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-11C>T	not provided [RCV003880550]	likely benign	1	181510466	181510466	Human		name
407425495	CV3411280	single nucleotide variant	NM_001205293.3(CACNA1E):c.2241-2A>G	not provided [RCV004588971]	uncertain significance	1	181731173	181731173	Human		name
408383852	CV3507158	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+1G>A	CACNA1E-related disorder [RCV004731323]	uncertain significance	1	181736435	181736435	Human		name , trait , alternate_id
408381502	CV3523894	single nucleotide variant	NM_001205293.3(CACNA1E):c.3828+2T>C	not provided [RCV004766292]	uncertain significance	1	181752241	181752241	Human		name
408387913	CV3527266	single nucleotide variant	NM_001205293.3(CACNA1E):c.4330-1G>A	not provided [RCV004773568]	uncertain significance	1	181757946	181757946	Human		name
408392317	CV3528089	single nucleotide variant	NM_001205293.3(CACNA1E):c.2948+1G>A	not provided [RCV004775857]	uncertain significance	1	181733035	181733035	Human		name
408392357	CV3528108	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+3A>T	not provided [RCV004775876]	uncertain significance	1	181720858	181720858	Human		name
596930962	CV3529804	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+2T>C	not provided [RCV004780854]	uncertain significance	1	181763533	181763533	Human		name
596947496	CV3549053	single nucleotide variant	NM_001205293.3(CACNA1E):c.1883+7G>T	not provided [RCV004811377]	uncertain significance	1	181720344	181720344	Human		name
12842462	CV364705	single nucleotide variant	NM_001205293.3(CACNA1E):c.2142+3A>G	not specified [RCV000434460]	likely benign	1	181724540	181724540	Human		name
597846207	CV3736428	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-4G>T	not provided [RCV005060006]	likely benign	1	181737521	181737521	Human		name
597922691	CV3738532	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+18T>A	not provided [RCV005074940]	likely benign	1	181579242	181579242	Human		name
597869232	CV3749761	single nucleotide variant	NM_001205293.3(CACNA1E):c.3720-5C>T	not provided [RCV005068442]	likely benign	1	181750471	181750471	Human		name
597955160	CV3754163	single nucleotide variant	NM_001205293.3(CACNA1E):c.266+19C>A	not provided [RCV005080206]	likely benign	1	181484029	181484029	Human		name
597892897	CV3763392	single nucleotide variant	NM_001205293.3(CACNA1E):c.5364+7C>T	not provided [RCV005110972]	likely benign	1	181781530	181781530	Human		name
597943772	CV3765895	single nucleotide variant	NM_001205293.3(CACNA1E):c.1055+7C>T	not provided [RCV005119273]	likely benign	1	181651448	181651448	Human		name
597923178	CV3775828	single nucleotide variant	NM_001205293.3(CACNA1E):c.5471-4C>T	not provided [RCV005115543]	likely benign	1	181784657	181784657	Human		name
597923833	CV3777918	single nucleotide variant	NM_001205293.3(CACNA1E):c.3828+5T>A	not provided [RCV005130642]	uncertain significance	1	181752244	181752244	Human		name
597913523	CV3778720	single nucleotide variant	NM_001205293.3(CACNA1E):c.2143-7T>C	not provided [RCV005129065]	likely benign	1	181726058	181726058	Human		name
597884321	CV3780583	single nucleotide variant	NM_001205293.3(CACNA1E):c.5364+7C>A	not provided [RCV005124711]	likely benign	1	181781530	181781530	Human		name
597884392	CV3780592	duplication	NM_001205293.3(CACNA1E):c.1957-5dup	not provided [RCV005124720]	likely benign	1	181721748	181721749	Human		name
597956117	CV3787277	single nucleotide variant	NM_001205293.3(CACNA1E):c.951+17G>C	not provided [RCV005122162]	likely benign	1	181580793	181580793	Human		name
597930075	CV3789249	single nucleotide variant	NM_001205293.3(CACNA1E):c.617-14G>A	not provided [RCV005131530]	likely benign	1	181579058	181579058	Human		name
597972465	CV3790324	single nucleotide variant	NM_001205293.3(CACNA1E):c.5139+6C>A	not provided [RCV005142747]	uncertain significance	1	181772237	181772237	Human		name
597967172	CV3794432	single nucleotide variant	NM_001205293.3(CACNA1E):c.617-10T>G	not provided [RCV005140608]	likely benign	1	181579062	181579062	Human		name
597868007	CV3802755	single nucleotide variant	NM_001205293.3(CACNA1E):c.2142+5G>A	not provided [RCV005147542]	uncertain significance	1	181724542	181724542	Human		name
597919381	CV3811641	single nucleotide variant	NM_001205293.3(CACNA1E):c.5680-6A>G	not provided [RCV005155472]	likely benign	1	181785707	181785707	Human		name
597855334	CV3816449	single nucleotide variant	NM_001205293.3(CACNA1E):c.5786+7A>G	not provided [RCV005146021]	likely benign	1	181785826	181785826	Human		name
597914552	CV3817547	single nucleotide variant	NM_001205293.3(CACNA1E):c.2948+6T>C	not provided [RCV005154749]	uncertain significance	1	181733040	181733040	Human		name
597948878	CV3818428	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+4C>T	not provided [RCV005160689]	uncertain significance	1	181776232	181776232	Human		name
597969072	CV3821369	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+9T>C	not provided [RCV005166011]	likely benign	1	181763540	181763540	Human		name
597840429	CV3825318	single nucleotide variant	NM_001205293.3(CACNA1E):c.4881+6C>T	not provided [RCV005172001]	uncertain significance	1	181766617	181766617	Human		name
597974531	CV3831700	single nucleotide variant	NM_001205293.3(CACNA1E):c.2074+8T>C	not provided [RCV005168639]	uncertain significance	1	181721883	181721883	Human		name
597903176	CV3851590	single nucleotide variant	NM_001205293.3(CACNA1E):c.4974-1G>A	not provided [RCV005202367]	uncertain significance	1	181772065	181772065	Human		name
597882257	CV3857562	single nucleotide variant	NM_001205293.3(CACNA1E):c.1884-9G>A	not provided [RCV005199182]	likely benign	1	181720774	181720774	Human		name
597845828	CV3880514	single nucleotide variant	NM_001205293.3(CACNA1E):c.3829-1G>T	not provided [RCV005227402]	uncertain significance	1	181755236	181755236	Human		name
617150936	CV4021969	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+6C>G	not provided [RCV005426930]	uncertain significance	1	181736440	181736440	Human		name
617154274	CV4022700	single nucleotide variant	NM_001205293.3(CACNA1E):c.3990-9T>A	not provided [RCV005430058]	uncertain significance	1	181755947	181755947	Human		name
15158302	CV729941	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-7T>C	Developmental and epileptic encephalopathy, 69 [RCV003446520]\|not provided [RCV000880981]	benign\|likely benign	1	181762567	181762567	Human	1	name
15196122	CV758885	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+9G>T	not provided [RCV000911608]	likely benign	1	181776237	181776237	Human		name
150332107	CV1168797	single nucleotide variant	NM_001205293.3(CACNA1E):c.6208+58C>G	not provided [RCV001536755]	benign	1	181795102	181795102	Human		name
150336081	CV1170632	single nucleotide variant	NM_001205293.3(CACNA1E):c.513-236A>C	not provided [RCV001540833]	benign	1	181577530	181577530	Human		name
150334237	CV1170634	single nucleotide variant	NM_001205293.3(CACNA1E):c.1639-19G>A	Developmental and epileptic encephalopathy, 69 [RCV003446815]\|not provided [RCV001539903]	benign	1	181719732	181719732	Human	1	name
150408628	CV1182544	single nucleotide variant	NM_001205293.3(CACNA1E):c.1225+78A>G	Developmental and epileptic encephalopathy, 69 [RCV001554791]\|not provided [RCV001615331]	benign	1	181715469	181715469	Human	1	name
150408632	CV1182545	single nucleotide variant	NM_001205293.3(CACNA1E):c.1316-13T>C	Developmental and epileptic encephalopathy, 69 [RCV001554792]\|not provided [RCV001673216]	benign	1	181717080	181717080	Human	1	name
150408635	CV1182546	single nucleotide variant	NM_001205293.3(CACNA1E):c.2298-97C>T	Developmental and epileptic encephalopathy, 69 [RCV001554793]\|not provided [RCV001658294]	benign	1	181732287	181732287	Human	1	name
150408639	CV1182547	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+56C>T	Developmental and epileptic encephalopathy, 69 [RCV001554794]\|not provided [RCV001647439]	benign	1	181750543	181750543	Human	1	name
150513844	CV1210728	single nucleotide variant	NM_001205293.3(CACNA1E):c.5139+66C>A	not provided [RCV001598769]	benign	1	181772297	181772297	Human		name
150513318	CV1211891	single nucleotide variant	NM_001205293.3(CACNA1E):c.6027+27C>G	not provided [RCV001598412]	benign	1	181793820	181793820	Human		name
150503774	CV1212550	single nucleotide variant	NM_001205293.3(CACNA1E):c.2949-79G>A	not provided [RCV001595425]	benign	1	181733358	181733358	Human		name
150506308	CV1213746	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+51G>C	not provided [RCV001596003]	benign	1	181736485	181736485	Human		name
150509065	CV1214205	single nucleotide variant	NM_001205293.3(CACNA1E):c.513-235C>A	not provided [RCV001596726]	benign	1	181577531	181577531	Human		name
150444158	CV1216591	single nucleotide variant	NM_001205293.3(CACNA1E):c.5365-25T>G	not provided [RCV001610890]	benign	1	181783654	181783654	Human		name
150474888	CV1217868	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+188G>A	not provided [RCV001615879]	benign	1	181510770	181510770	Human		name
150476739	CV1218524	single nucleotide variant	NM_001205293.3(CACNA1E):c.4605+21C>T	not provided [RCV001616151]	benign	1	181758889	181758889	Human		name
150438607	CV1221185	single nucleotide variant	NM_001205293.3(CACNA1E):c.5680-46C>A	not provided [RCV001609879]	benign	1	181785667	181785667	Human		name
150439585	CV1221326	single nucleotide variant	NM_001205293.3(CACNA1E):c.6028-44C>T	not provided [RCV001610021]	benign	1	181794820	181794820	Human		name
150439886	CV1221372	single nucleotide variant	NM_001205293.3(CACNA1E):c.5365-80C>T	not provided [RCV001610067]	benign	1	181783599	181783599	Human		name
150435540	CV1221665	single nucleotide variant	NM_001205293.3(CACNA1E):c.6027+20A>G	not provided [RCV001609353]	benign	1	181793813	181793813	Human		name
150485815	CV1223078	single nucleotide variant	NM_001205293.3(CACNA1E):c.4495-26T>C	not provided [RCV001617791]	benign	1	181758732	181758732	Human		name
150501330	CV1223677	single nucleotide variant	NM_001205293.3(CACNA1E):c.5679+10A>C	Developmental and epileptic encephalopathy, 69 [RCV003446850]\|not provided [RCV001620798]	benign	1	181785428	181785428	Human	1	name
150495748	CV1225152	single nucleotide variant	NM_001205293.3(CACNA1E):c.770-184T>G	not provided [RCV001619630]	benign	1	181580411	181580411	Human		name
150492922	CV1225565	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+28A>G	not provided [RCV001619081]	benign	1	181763559	181763559	Human		name
150486414	CV1225738	single nucleotide variant	NM_001205293.3(CACNA1E):c.3263-13G>A	Developmental and epileptic encephalopathy, 69 [RCV003446851]\|not provided [RCV001617899]	benign	1	181736262	181736262	Human	1	name
150515294	CV1227510	single nucleotide variant	NM_001205293.3(CACNA1E):c.1171+13G>A	Developmental and epileptic encephalopathy, 69 [RCV003446853]\|not provided [RCV001638783]	benign	1	181711082	181711082	Human	1	name
150433071	CV1230382	single nucleotide variant	NM_001205293.3(CACNA1E):c.4330-53A>T	not provided [RCV001643327]	benign	1	181757894	181757894	Human		name
150433903	CV1230654	single nucleotide variant	NM_001205293.3(CACNA1E):c.5268-94G>T	not provided [RCV001643600]	benign	1	181781333	181781333	Human		name
150446365	CV1232095	deletion	NM_001205293.3(CACNA1E):c.5140-12del	Developmental and epileptic encephalopathy, 69 [RCV003446854]\|not provided [RCV001646003]	benign	1	181776086	181776086	Human	1	name
150453908	CV1232185	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+16G>A	Developmental and epileptic encephalopathy, 69 [RCV003446855]\|not provided [RCV001648198]	benign	1	181755413	181755413	Human	1	name
150449813	CV1232597	single nucleotide variant	NM_001205293.3(CACNA1E):c.2298-38T>C	not provided [RCV001647671]	benign	1	181732346	181732346	Human		name
150450962	CV1232739	single nucleotide variant	NM_001205293.3(CACNA1E):c.6027+43G>A	not provided [RCV001647814]	benign	1	181793836	181793836	Human		name
150431206	CV1235370	deletion	NM_001205293.3(CACNA1E):c.5365-32del	not provided [RCV001641740]	benign	1	181783634	181783634	Human		name
150458097	CV1237167	single nucleotide variant	NM_001205293.3(CACNA1E):c.3263-15G>A	Developmental and epileptic encephalopathy, 69 [RCV002477866]\|not provided [RCV001648846]	benign	1	181736260	181736260	Human	1	name
150501177	CV1238332	single nucleotide variant	NM_001205293.3(CACNA1E):c.6399+89C>T	not provided [RCV001656762]	benign	1	181796947	181796947	Human		name
150480441	CV1239579	duplication	NM_001205293.3(CACNA1E):c.4606-42dup	not provided [RCV001652742]	benign	1	181762531	181762532	Human		name
150434824	CV1244047	single nucleotide variant	NM_001205293.3(CACNA1E):c.4690-24A>G	not provided [RCV001665254]	benign	1	181763382	181763382	Human		name
150482450	CV1244279	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+10C>A	CACNA1E-related disorder [RCV003956309]\|Developmental and epileptic encephalopathy, 69 [RCV003446857]\|not provided [RCV001653126]	benign\|likely benign	1	181718177	181718177	Human	1	name , alternate_id
150455574	CV1246935	single nucleotide variant	NM_001205293.3(CACNA1E):c.616+293A>G	not provided [RCV001668703]	benign	1	181578162	181578162	Human		name
150456174	CV1249577	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+47G>A	not provided [RCV001668792]	benign	1	181720902	181720902	Human		name
150484838	CV1250105	duplication	NM_001205293.3(CACNA1E):c.5365-32dup	not provided [RCV001673718]	benign	1	181783633	181783634	Human		name
150488443	CV1251669	single nucleotide variant	NM_001205293.3(CACNA1E):c.1055+31A>T	not provided [RCV001674341]	benign	1	181651472	181651472	Human		name
150464052	CV1252612	single nucleotide variant	NM_001205293.3(CACNA1E):c.5680-46C>T	not provided [RCV001669936]	benign	1	181785667	181785667	Human		name
150504558	CV1255262	single nucleotide variant	NM_001205293.3(CACNA1E):c.952-260T>C	not provided [RCV001677709]	benign	1	181651078	181651078	Human		name
150465985	CV1255664	single nucleotide variant	NM_001205293.3(CACNA1E):c.4881+24G>A	not provided [RCV001670298]	benign	1	181766635	181766635	Human		name
150507178	CV1256868	single nucleotide variant	NM_001205293.3(CACNA1E):c.6028-28G>A	not provided [RCV001678371]	benign	1	181794836	181794836	Human		name
150469896	CV1259735	single nucleotide variant	NM_001205293.3(CACNA1E):c.3828+43A>G	not provided [RCV001684036]	benign	1	181752282	181752282	Human		name
150473234	CV1262868	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-37C>A	not provided [RCV001684684]	benign	1	181762537	181762537	Human		name
150442393	CV1264425	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+12C>G	Developmental and epileptic encephalopathy, 69 [RCV003446868]\|not provided [RCV001679408]	benign	1	181716141	181716141	Human	1	name
150440140	CV1266871	single nucleotide variant	NM_001205293.3(CACNA1E):c.3263-31T>C	not provided [RCV001690307]	benign	1	181736244	181736244	Human		name
150470473	CV1269851	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+41T>C	not provided [RCV001695138]	benign	1	181771425	181771425	Human		name
150471562	CV1270101	single nucleotide variant	NM_001205293.3(CACNA1E):c.5899-41G>A	not provided [RCV001695389]	benign	1	181793624	181793624	Human		name
150478078	CV1270998	single nucleotide variant	NM_001205293.3(CACNA1E):c.5470+23G>C	not provided [RCV001696434]	benign	1	181783807	181783807	Human		name
150478623	CV1271090	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-43T>C	not provided [RCV001696526]	benign	1	181762531	181762531	Human		name
150480781	CV1279574	single nucleotide variant	NM_001205293.3(CACNA1E):c.3720-37T>C	not provided [RCV001714715]	benign	1	181750439	181750439	Human		name
150486051	CV1280904	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+45T>C	not provided [RCV001715721]	benign	1	181718212	181718212	Human		name
150479691	CV1282361	single nucleotide variant	NM_001205293.3(CACNA1E):c.4494+26G>A	not provided [RCV001714508]	benign	1	181758137	181758137	Human		name
150495295	CV1282908	single nucleotide variant	NM_001205293.3(CACNA1E):c.3732-14C>T	Developmental and epileptic encephalopathy, 69 [RCV003446876]\|not provided [RCV001717346]	benign	1	181752129	181752129	Human	1	name
150508813	CV1284377	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+36T>C	not provided [RCV001720485]	benign	1	181737690	181737690	Human		name
150515278	CV1285487	duplication	NM_001205293.3(CACNA1E):c.5365-31dup	not provided [RCV001722940]	benign	1	181783647	181783648	Human		name
150504336	CV1285937	single nucleotide variant	NM_001205293.3(CACNA1E):c.373-324C>T	not provided [RCV001719360]	benign	1	181511047	181511047	Human		name
150504653	CV1286000	single nucleotide variant	NM_001205293.3(CACNA1E):c.5365-32T>G	not provided [RCV001719423]	benign	1	181783647	181783647	Human		name
150520675	CV1290554	single nucleotide variant	NM_001205293.3(CACNA1E):c.3262+38C>T	not provided [RCV001732245]	benign	1	181733788	181733788	Human		name
150520744	CV1290588	single nucleotide variant	NM_001205293.3(CACNA1E):c.2074+77G>A	not provided [RCV001732280]	likely benign	1	181721952	181721952	Human		name
150520776	CV1290604	single nucleotide variant	NM_001205293.3(CACNA1E):c.3990-78G>A	not provided [RCV001732296]	likely benign	1	181755878	181755878	Human		name
150520892	CV1290664	single nucleotide variant	NM_001205293.3(CACNA1E):c.373-150G>A	not provided [RCV001732355]	likely benign	1	181511221	181511221	Human		name
150520935	CV1290701	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-62C>T	not provided [RCV001732380]	likely benign	1	181710892	181710892	Human		name
150521098	CV1290726	single nucleotide variant	NM_001205293.3(CACNA1E):c.4605+12A>C	Developmental and epileptic encephalopathy, 69 [RCV003446878]\|not provided [RCV001732400]	benign\|likely benign	1	181758880	181758880	Human	1	name
150531154	CV1290798	single nucleotide variant	NM_001205293.3(CACNA1E):c.267-125A>C	not provided [RCV001732921]	likely benign	1	181510352	181510352	Human		name
150531174	CV1290824	single nucleotide variant	NM_001205293.3(CACNA1E):c.3613-86G>A	not provided [RCV001732928]	likely benign	1	181739061	181739061	Human		name
150521071	CV1290825	single nucleotide variant	NM_001205293.3(CACNA1E):c.6027+86G>A	not provided [RCV001732474]	likely benign	1	181793879	181793879	Human		name
150521473	CV1291022	single nucleotide variant	NM_001205293.3(CACNA1E):c.372+218A>G	not provided [RCV001732623]	likely benign	1	181510800	181510800	Human		name
150521317	CV1291033	single nucleotide variant	NM_001205293.3(CACNA1E):c.1957-23C>T	not provided [RCV001732632]	likely benign	1	181721735	181721735	Human		name
150521350	CV1291049	single nucleotide variant	NM_001205293.3(CACNA1E):c.2297+38C>T	not provided [RCV001732641]	likely benign	1	181731269	181731269	Human		name
150529967	CV1291069	single nucleotide variant	NM_001205293.3(CACNA1E):c.770-100G>C	not provided [RCV001732655]	likely benign	1	181580495	181580495	Human		name
150531297	CV1291113	single nucleotide variant	NM_001205293.3(CACNA1E):c.769+142C>G	not provided [RCV001733004]	likely benign	1	181579366	181579366	Human		name
150530027	CV1291131	single nucleotide variant	NM_001205293.3(CACNA1E):c.2298-16C>T	Developmental and epileptic encephalopathy, 69 [RCV003446879]\|not provided [RCV001732698]	benign\|likely benign	1	181732368	181732368	Human	1	name
150531469	CV1291222	single nucleotide variant	NM_001205293.3(CACNA1E):c.4816-30A>G	not provided [RCV001733085]	likely benign	1	181766516	181766516	Human		name
150531563	CV1291278	single nucleotide variant	NM_001205293.3(CACNA1E):c.1316-50G>A	not provided [RCV001733127]	likely benign	1	181717043	181717043	Human		name
150531566	CV1291279	single nucleotide variant	NM_001205293.3(CACNA1E):c.1639-84G>C	not provided [RCV001733128]	likely benign	1	181719667	181719667	Human		name
150531578	CV1291286	single nucleotide variant	NM_001205293.3(CACNA1E):c.4816-70G>C	not provided [RCV001733133]	likely benign	1	181766476	181766476	Human		name
150531646	CV1291325	single nucleotide variant	NM_001205293.3(CACNA1E):c.3263-16C>T	Developmental and epileptic encephalopathy, 69 [RCV003446880]\|not provided [RCV001733162]	benign\|likely benign	1	181736259	181736259	Human	1	name
150531717	CV1291358	single nucleotide variant	NM_001205293.3(CACNA1E):c.1883+47C>G	not provided [RCV001733188]	likely benign	1	181720384	181720384	Human		name
150531730	CV1291365	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-51T>C	not provided [RCV001733193]	likely benign	1	181710903	181710903	Human		name
150531733	CV1291366	single nucleotide variant	NM_001205293.3(CACNA1E):c.3553-93G>A	not provided [RCV001733194]	likely benign	1	181738274	181738274	Human		name
150530126	CV1291367	single nucleotide variant	NM_001205293.3(CACNA1E):c.1172-60A>C	not provided [RCV001732750]	likely benign	1	181715278	181715278	Human		name
150531739	CV1291370	single nucleotide variant	NM_001205293.3(CACNA1E):c.3828+68C>T	not provided [RCV001733196]	likely benign	1	181752307	181752307	Human		name
150531888	CV1291487	single nucleotide variant	NM_001205293.3(CACNA1E):c.6400-22C>T	not provided [RCV001733279]	benign	1	181798270	181798270	Human		name
150531923	CV1291518	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+73G>C	not provided [RCV001733304]	likely benign	1	181750560	181750560	Human		name
150531952	CV1291557	single nucleotide variant	NM_001205293.3(CACNA1E):c.2297+47G>A	not provided [RCV001733329]	benign	1	181731278	181731278	Human		name
150531995	CV1291751	single nucleotide variant	NM_001205293.3(CACNA1E):c.4329+14G>A	Developmental and epileptic encephalopathy, 69 [RCV003446882]\|not provided [RCV001733467]	benign\|likely benign	1	181757140	181757140	Human	1	name
150533432	CV1292733	single nucleotide variant	NM_001205293.3(CACNA1E):c.1884-44T>G	not provided [RCV001754341]	benign	1	181720739	181720739	Human		name
150536518	CV1293124	single nucleotide variant	NM_001205293.3(CACNA1E):c.6027+37C>T	not provided [RCV001762910]	benign	1	181793830	181793830	Human		name
150534160	CV1293162	single nucleotide variant	NM_001205293.3(CACNA1E):c.5898+31T>A	not provided [RCV001756380]	benign	1	181790587	181790587	Human		name
150534201	CV1293276	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+19G>A	Developmental and epileptic encephalopathy, 69 [RCV003446884]\|not provided [RCV001756496]	benign\|likely benign	1	181720874	181720874	Human	1	name
150539060	CV1295023	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-17T>C	Developmental and epileptic encephalopathy, 69 [RCV003446891]\|not provided [RCV001764984]	benign	1	181790428	181790428	Human	1	name
150539085	CV1295136	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+20G>A	Developmental and epileptic encephalopathy, 69 [RCV003446892]\|not provided [RCV001765097]	benign	1	181776248	181776248	Human	1	name
150531182	CV1310619	single nucleotide variant	NM_001205293.3(CACNA1E):c.2297+21G>A	not provided [RCV001776353]	likely benign	1	181731252	181731252	Human		name
150531522	CV1310938	single nucleotide variant	NM_001205293.3(CACNA1E):c.5898+10T>C	Developmental and epileptic encephalopathy, 69 [RCV003446916]\|not provided [RCV001776672]	benign	1	181790566	181790566	Human	1	name
150535518	CV1311916	single nucleotide variant	NM_001205293.3(CACNA1E):c.6028-36C>A	not provided [RCV001779726]	benign	1	181794828	181794828	Human		name
151233265	CV1317761	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-29A>T	not provided [RCV001787527]	benign	1	181762545	181762545	Human		name
151662856	CV1333493	single nucleotide variant	NM_001205293.3(CACNA1E):c.4494+40G>A	not provided [RCV001837685]	likely benign	1	181758151	181758151	Human		name
151716632	CV1334712	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-22C>A	not provided [RCV001843669]	likely benign	1	181737503	181737503	Human		name
151738413	CV1379180	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+14G>T	not provided [RCV001911683]	uncertain significance	1	181737668	181737668	Human		name
151826206	CV1414634	single nucleotide variant	NM_001205293.3(CACNA1E):c.3553-15A>G	not provided [RCV001920043]	likely benign\|uncertain significance	1	181738352	181738352	Human		name
152122557	CV1521636	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+12C>T	not provided [RCV002135896]	likely benign	1	181771396	181771396	Human		name
152038046	CV1525020	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+13C>G	not provided [RCV002165269]	likely benign	1	181736447	181736447	Human		name
152175734	CV1527133	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+13A>G	not provided [RCV002163870]	likely benign	1	181763544	181763544	Human		name
152158305	CV1529010	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+13G>C	not provided [RCV002159175]	likely benign	1	181771397	181771397	Human		name
152085960	CV1531627	single nucleotide variant	NM_001205293.3(CACNA1E):c.3612+12T>C	not provided [RCV002076985]	likely benign	1	181738438	181738438	Human		name
152095901	CV1534142	single nucleotide variant	NM_001205293.3(CACNA1E):c.4690-16C>T	not provided [RCV002151200]	likely benign	1	181763390	181763390	Human		name
152045616	CV1539506	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+19C>T	not provided [RCV002145055]	likely benign	1	181776247	181776247	Human		name
152144639	CV1543159	deletion	NM_001205293.3(CACNA1E):c.5579-11del	not provided [RCV002178533]	likely benign	1	181785305	181785305	Human		name
152132707	CV1545201	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+11A>C	not provided [RCV002119296]	likely benign	1	181737665	181737665	Human		name
152149081	CV1545329	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+13G>A	Developmental and epileptic encephalopathy, 69 [RCV003447056]\|not provided [RCV002121491]	likely benign	1	181750500	181750500	Human	1	name
152122117	CV1547702	single nucleotide variant	NM_001205293.3(CACNA1E):c.5898+20G>A	not provided [RCV002081696]	likely benign	1	181790576	181790576	Human		name
152082171	CV1548401	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+10C>T	not provided [RCV002076517]	likely benign	1	181736444	181736444	Human		name
152072955	CV1556507	single nucleotide variant	NM_001205293.3(CACNA1E):c.1751+10C>A	not provided [RCV002111709]	likely benign	1	181719873	181719873	Human		name
152066332	CV1556999	single nucleotide variant	NM_001205293.3(CACNA1E):c.4495-10T>C	not provided [RCV002191218]	likely benign	1	181758748	181758748	Human		name
152158520	CV1557151	single nucleotide variant	NM_001205293.3(CACNA1E):c.4690-11T>C	not provided [RCV002203031]	likely benign	1	181763395	181763395	Human		name
152165939	CV1557170	single nucleotide variant	NM_001205293.3(CACNA1E):c.2143-13G>A	not provided [RCV002181837]	likely benign	1	181726052	181726052	Human		name
152106273	CV1560055	single nucleotide variant	NM_001205293.3(CACNA1E):c.4605+17T>C	not provided [RCV002133891]	likely benign	1	181758885	181758885	Human		name
152135534	CV1560398	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+15G>T	not provided [RCV002137490]	likely benign	1	181718182	181718182	Human		name
152136526	CV1560667	single nucleotide variant	NM_001205293.3(CACNA1E):c.4974-15G>A	not provided [RCV002137612]	likely benign	1	181772051	181772051	Human		name
152136650	CV1560700	single nucleotide variant	NM_001205293.3(CACNA1E):c.5268-14C>T	not provided [RCV002137627]	likely benign	1	181781413	181781413	Human		name
152077836	CV1561003	single nucleotide variant	NM_001205293.3(CACNA1E):c.1171+14G>A	not provided [RCV002112348]	likely benign	1	181711083	181711083	Human		name
152163185	CV1561225	deletion	NM_001205293.3(CACNA1E):c.2074+11del	not provided [RCV002104188]	benign	1	181721882	181721882	Human		name
152046008	CV1561357	deletion	NM_001205293.3(CACNA1E):c.4689+20del	not provided [RCV002108348]	likely benign	1	181762676	181762676	Human		name
152092281	CV1567758	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-16T>C	not provided [RCV002212891]	likely benign	1	181790429	181790429	Human		name
152047854	CV1569574	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+10C>T	CACNA1E-related disorder [RCV003978669]\|not provided [RCV002126860]	likely benign	1	181718177	181718177	Human	1	name , alternate_id
152086166	CV1573841	single nucleotide variant	NM_001205293.3(CACNA1E):c.3263-19C>T	not provided [RCV002149955]	likely benign	1	181736256	181736256	Human		name
152148481	CV1577025	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-13C>T	not provided [RCV002179082]	likely benign	1	181737512	181737512	Human		name
152087269	CV1578342	single nucleotide variant	NM_001205293.3(CACNA1E):c.1639-10G>A	not provided [RCV002171344]	likely benign	1	181719741	181719741	Human		name
152111154	CV1582250	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+17C>T	not provided [RCV002080267]	likely benign	1	181720872	181720872	Human		name
152026650	CV1583004	single nucleotide variant	NM_001205293.3(CACNA1E):c.4495-12T>C	not provided [RCV002084869]	likely benign	1	181758746	181758746	Human		name
152035575	CV1583196	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+11G>A	not provided [RCV002106922]	likely benign	1	181718178	181718178	Human		name
152122877	CV1587155	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+15C>T	not provided [RCV002135936]	likely benign	1	181736449	181736449	Human		name
152170811	CV1592592	single nucleotide variant	NM_001205293.3(CACNA1E):c.1752-18A>T	not provided [RCV002161894]	likely benign	1	181720188	181720188	Human		name
152170904	CV1592628	single nucleotide variant	NM_001205293.3(CACNA1E):c.2949-17T>C	not provided [RCV002161924]	likely benign	1	181733420	181733420	Human		name
152039569	CV1592777	single nucleotide variant	NM_001205293.3(CACNA1E):c.4605+11G>T	not provided [RCV002188052]	likely benign	1	181758879	181758879	Human		name
152039863	CV1592861	single nucleotide variant	NM_001205293.3(CACNA1E):c.3828+12A>G	not provided [RCV002188093]	likely benign	1	181752251	181752251	Human		name
152039980	CV1592894	deletion	NM_001205293.3(CACNA1E):c.1751+19del	not provided [RCV002188109]	likely benign	1	181719881	181719881	Human		name
152091932	CV1596006	single nucleotide variant	NM_001205293.3(CACNA1E):c.4690-17T>C	not provided [RCV002077827]	likely benign	1	181763389	181763389	Human		name
152096709	CV1599773	single nucleotide variant	NM_001205293.3(CACNA1E):c.1055+17T>C	not provided [RCV002151292]	likely benign	1	181651458	181651458	Human		name
152097700	CV1600006	single nucleotide variant	NM_001205293.3(CACNA1E):c.5898+17T>G	not provided [RCV002151408]	likely benign	1	181790573	181790573	Human		name
152037317	CV1605585	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+12C>G	not provided [RCV002087436]	likely benign	1	181771396	181771396	Human		name
152064114	CV1606658	single nucleotide variant	NM_001205293.3(CACNA1E):c.1883+18T>C	not provided [RCV002209077]	likely benign	1	181720355	181720355	Human		name
152129622	CV1607802	single nucleotide variant	NM_001205293.3(CACNA1E):c.3720-17G>A	not provided [RCV002176625]	likely benign	1	181750459	181750459	Human		name
152087287	CV1608512	single nucleotide variant	NM_001205293.3(CACNA1E):c.6208+19T>C	not provided [RCV002212218]	likely benign	1	181795063	181795063	Human		name
152034106	CV1610523	duplication	NM_001205293.3(CACNA1E):c.1171+14dup	not provided [RCV002125045]	benign	1	181711077	181711078	Human		name
152098523	CV1611735	single nucleotide variant	NM_001205293.3(CACNA1E):c.1225+11G>A	not provided [RCV002172790]	likely benign	1	181715402	181715402	Human		name
152122425	CV1613388	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+16G>A	not provided [RCV002154432]	likely benign	1	181736450	181736450	Human		name
152108817	CV1613958	single nucleotide variant	NM_001205293.3(CACNA1E):c.5579-17C>A	not provided [RCV002174067]	likely benign	1	181785301	181785301	Human		name
152053932	CV1619573	single nucleotide variant	NM_001205293.3(CACNA1E):c.1752-15G>A	not provided [RCV002167205]	likely benign	1	181720191	181720191	Human		name
152042639	CV1624274	single nucleotide variant	NM_001205293.3(CACNA1E):c.3262+15C>T	not provided [RCV002126285]	likely benign	1	181733765	181733765	Human		name
152034123	CV1626244	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+15C>T	not provided [RCV002187208]	likely benign	1	181776243	181776243	Human		name
152140358	CV1628762	single nucleotide variant	NM_001205293.3(CACNA1E):c.4494+10G>C	not provided [RCV002100690]	likely benign	1	181758121	181758121	Human		name
152094395	CV1632102	single nucleotide variant	NM_001205293.3(CACNA1E):c.2297+12C>G	not provided [RCV002132435]	benign	1	181731243	181731243	Human		name
152030647	CV1632251	single nucleotide variant	NM_001205293.3(CACNA1E):c.5786+15A>C	not provided [RCV002124382]	likely benign	1	181785834	181785834	Human		name
152033986	CV1634688	single nucleotide variant	NM_001205293.3(CACNA1E):c.5898+13G>A	not provided [RCV002086895]	likely benign	1	181790569	181790569	Human		name
152034107	CV1634746	single nucleotide variant	NM_001205293.3(CACNA1E):c.3262+11A>G	not provided [RCV002086914]	likely benign	1	181733761	181733761	Human		name
152111455	CV1634787	single nucleotide variant	NM_001205293.3(CACNA1E):c.4689+20C>T	not provided [RCV002096907]	likely benign	1	181762677	181762677	Human		name
152056482	CV1635060	single nucleotide variant	NM_001205293.3(CACNA1E):c.1957-18G>A	not provided [RCV002089773]	likely benign	1	181721740	181721740	Human		name
152163102	CV1635849	single nucleotide variant	NM_001205293.3(CACNA1E):c.4329+11T>C	not provided [RCV002203775]	likely benign	1	181757137	181757137	Human		name
152070423	CV1638609	single nucleotide variant	NM_001205293.3(CACNA1E):c.6400-20A>G	not provided [RCV002075027]	likely benign	1	181798272	181798272	Human		name
152088848	CV1638979	single nucleotide variant	NM_001205293.3(CACNA1E):c.1055+12G>A	not provided [RCV002150322]	benign	1	181651453	181651453	Human		name
152113829	CV1639533	single nucleotide variant	NM_001205293.3(CACNA1E):c.2143-15C>T	not provided [RCV002197136]	likely benign	1	181726050	181726050	Human		name
152028306	CV1642738	single nucleotide variant	NM_001205293.3(CACNA1E):c.3720-12G>A	not provided [RCV002185792]	likely benign	1	181750464	181750464	Human		name
152028582	CV1642850	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-17A>G	not provided [RCV002185883]	likely benign	1	181737508	181737508	Human		name
152170770	CV1651293	single nucleotide variant	NM_001205293.3(CACNA1E):c.1884-12T>C	not provided [RCV002143225]	likely benign	1	181720771	181720771	Human		name
152172875	CV1652761	duplication	NM_001205293.3(CACNA1E):c.3732-15dup	not provided [RCV002143922]	benign	1	181752123	181752124	Human		name
152160657	CV1655875	single nucleotide variant	NM_001205293.3(CACNA1E):c.5268-15A>G	not provided [RCV002203374]	likely benign	1	181781412	181781412	Human		name
152147883	CV1656269	single nucleotide variant	NM_001205293.3(CACNA1E):c.3553-17C>T	not provided [RCV002220334]	likely benign	1	181738350	181738350	Human		name
152152802	CV1661038	single nucleotide variant	NM_001205293.3(CACNA1E):c.6208+18G>A	not provided [RCV002121990]	likely benign	1	181795062	181795062	Human		name
152125630	CV1665820	single nucleotide variant	NM_001205293.3(CACNA1E):c.4974-13C>G	not provided [RCV002198633]	likely benign	1	181772053	181772053	Human		name
152078273	CV1666056	single nucleotide variant	NM_001205293.3(CACNA1E):c.1172-16A>G	not provided [RCV002092517]	likely benign	1	181715322	181715322	Human		name
155796246	CV1861736	single nucleotide variant	NM_001205293.3(CACNA1E):c.4816-19A>T	not provided [RCV002569370]\|not specified [RCV002470018]	likely benign\|uncertain significance	1	181766527	181766527	Human		name
156370839	CV1920220	single nucleotide variant	NM_001205293.3(CACNA1E):c.4329+10A>G	not provided [RCV002603162]	likely benign	1	181757136	181757136	Human		name
156086254	CV1953201	single nucleotide variant	NM_001205293.3(CACNA1E):c.1884-13T>C	not provided [RCV002570070]	likely benign	1	181720770	181720770	Human		name
156384815	CV1961147	single nucleotide variant	NM_001205293.3(CACNA1E):c.1171+15C>T	not provided [RCV002583412]	likely benign	1	181711084	181711084	Human		name
156091167	CV1963216	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+14G>A	not provided [RCV002570229]	likely benign	1	181736448	181736448	Human		name
156412674	CV1968767	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+12C>T	not provided [RCV002608608]	likely benign	1	181750499	181750499	Human		name
156140707	CV1973590	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+15T>A	not provided [RCV002593822]	likely benign	1	181716144	181716144	Human		name
156263159	CV1977630	single nucleotide variant	NM_001205293.3(CACNA1E):c.4881+20G>T	not provided [RCV002597849]	likely benign	1	181766631	181766631	Human		name
156178390	CV1978683	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+13G>A	not provided [RCV002594987]	likely benign	1	181771397	181771397	Human		name
156097849	CV1981075	single nucleotide variant	NM_001205293.3(CACNA1E):c.5140-20T>C	not provided [RCV002622101]	likely benign	1	181776081	181776081	Human		name
156225216	CV1981546	single nucleotide variant	NM_001205293.3(CACNA1E):c.2240+18T>C	not provided [RCV002626592]	likely benign	1	181726180	181726180	Human		name
156121065	CV1982756	single nucleotide variant	NM_001205293.3(CACNA1E):c.4128-10G>C	not provided [RCV002622946]	likely benign	1	181756915	181756915	Human		name
156414582	CV1986756	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+11C>T	not provided [RCV002609270]	likely benign	1	181763542	181763542	Human		name
156248923	CV1988355	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+15C>T	not provided [RCV002645830]	likely benign	1	181755412	181755412	Human		name
156389483	CV1989980	single nucleotide variant	NM_001205293.3(CACNA1E):c.1752-18A>G	not provided [RCV002604542]	likely benign	1	181720188	181720188	Human		name
156322947	CV1992357	single nucleotide variant	NM_001205293.3(CACNA1E):c.4881+19G>T	not provided [RCV002649371]	likely benign	1	181766630	181766630	Human		name
156082562	CV1992826	single nucleotide variant	NM_001205293.3(CACNA1E):c.5365-14T>A	not provided [RCV002638946]	likely benign	1	181783665	181783665	Human		name
156109678	CV2008563	single nucleotide variant	NM_001205293.3(CACNA1E):c.5578+15C>T	not provided [RCV002695619]	likely benign	1	181784783	181784783	Human		name
155957009	CV2010496	duplication	NM_001205293.3(CACNA1E):c.5679+19dup	not provided [RCV002686319]	likely benign	1	181785436	181785437	Human		name
156007570	CV2015124	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+13C>T	not provided [RCV002690345]	likely benign	1	181736447	181736447	Human		name
156088654	CV2017365	single nucleotide variant	NM_001205293.3(CACNA1E):c.6209-12C>T	not provided [RCV002694862]	likely benign	1	181796656	181796656	Human		name
156365777	CV2020879	single nucleotide variant	NM_001205293.3(CACNA1E):c.2241-15A>G	not provided [RCV002721173]	likely benign	1	181731160	181731160	Human		name
156375421	CV2024654	single nucleotide variant	NM_001205293.3(CACNA1E):c.1883+11A>C	not provided [RCV002721878]	likely benign	1	181720348	181720348	Human		name
156257413	CV2025992	single nucleotide variant	NM_001205293.3(CACNA1E):c.2241-18T>C	not provided [RCV002746191]	likely benign	1	181731157	181731157	Human		name
155989504	CV2026862	single nucleotide variant	NM_001205293.3(CACNA1E):c.2142+20G>A	not provided [RCV002755687]	likely benign	1	181724557	181724557	Human		name
155934799	CV2027528	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-15G>A	not provided [RCV002774792]	likely benign	1	181737510	181737510	Human		name
156061739	CV2044881	single nucleotide variant	NM_001205293.3(CACNA1E):c.4329+16C>T	not provided [RCV002736861]	likely benign	1	181757142	181757142	Human		name
156011472	CV2051451	single nucleotide variant	NM_001205293.3(CACNA1E):c.4330-15A>G	not provided [RCV002820143]	likely benign	1	181757932	181757932	Human		name
155994076	CV2059922	single nucleotide variant	NM_001205293.3(CACNA1E):c.1316-10T>C	not provided [RCV002819339]	likely benign	1	181717083	181717083	Human		name
156052138	CV2060099	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-10C>A	not provided [RCV002796803]	likely benign	1	181762564	181762564	Human		name
155940857	CV2068122	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+17A>G	not provided [RCV002839396]	likely benign	1	181716146	181716146	Human		name
156280848	CV2074793	single nucleotide variant	NM_001205293.3(CACNA1E):c.4495-18C>A	not provided [RCV002856378]	likely benign	1	181758740	181758740	Human		name
156023115	CV2077822	single nucleotide variant	NM_001205293.3(CACNA1E):c.1526-13T>G	not provided [RCV002866704]	likely benign	1	181718042	181718042	Human		name
155971717	CV2079261	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-12T>G	not provided [RCV002881519]	likely benign	1	181710942	181710942	Human		name
156315260	CV2085950	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+13C>T	not provided [RCV002898952]	likely benign	1	181720868	181720868	Human		name
155983497	CV2101172	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+11T>C	not provided [RCV002882047]	likely benign	1	181750498	181750498	Human		name
156094902	CV2106397	single nucleotide variant	NM_001205293.3(CACNA1E):c.3262+20T>C	not provided [RCV002952507]	likely benign	1	181733770	181733770	Human		name
156123832	CV2107828	single nucleotide variant	NM_001205293.3(CACNA1E):c.5470+19G>A	not provided [RCV002914274]	likely benign	1	181783803	181783803	Human		name
156035090	CV2132838	single nucleotide variant	NM_001205293.3(CACNA1E):c.4127+13G>A	not provided [RCV002999300]	likely benign	1	181756106	181756106	Human		name
156056704	CV2133852	single nucleotide variant	NM_001205293.3(CACNA1E):c.5139+12T>G	not provided [RCV003000057]	likely benign	1	181772243	181772243	Human		name
156222470	CV2144254	single nucleotide variant	NM_001205293.3(CACNA1E):c.5364+15C>T	not provided [RCV003007435]	likely benign	1	181781538	181781538	Human		name
156303109	CV2146495	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+11C>T	not provided [RCV003028190]	likely benign	1	181716140	181716140	Human		name
155968184	CV2152333	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-11C>G	not provided [RCV003015806]	likely benign	1	181710943	181710943	Human		name
156034088	CV2152778	single nucleotide variant	NM_001205293.3(CACNA1E):c.3263-10C>T	not provided [RCV003018800]	likely benign	1	181736265	181736265	Human		name
156030227	CV2156364	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+13A>G	not provided [RCV003018643]	likely benign	1	181718180	181718180	Human		name
155955432	CV2162522	single nucleotide variant	NM_001205293.3(CACNA1E):c.2949-10C>T	not provided [RCV003015073]	likely benign	1	181733427	181733427	Human		name
156309124	CV2163887	single nucleotide variant	NM_001205293.3(CACNA1E):c.3613-18G>A	not provided [RCV003045930]	likely benign	1	181739129	181739129	Human		name
156242867	CV2173483	single nucleotide variant	NM_001205293.3(CACNA1E):c.1957-12T>G	not provided [RCV003043507]	benign	1	181721746	181721746	Human		name
156239898	CV2177046	deletion	NM_001205293.3(CACNA1E):c.4815+12del	not provided [RCV003043406]	likely benign	1	181763542	181763542	Human		name
156100170	CV2179997	single nucleotide variant	NM_001205293.3(CACNA1E):c.1525+14C>T	not provided [RCV003054695]	likely benign	1	181717316	181717316	Human		name
155966361	CV2180105	single nucleotide variant	NM_001205293.3(CACNA1E):c.6400-16C>G	not provided [RCV003033186]	likely benign	1	181798276	181798276	Human		name
156271732	CV2187448	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-14C>T	not provided [RCV003044476]	likely benign	1	181710940	181710940	Human		name
405210537	CV2867758	single nucleotide variant	NM_001205293.3(CACNA1E):c.4816-15C>G	not provided [RCV003552510]	likely benign	1	181766531	181766531	Human		name
402492941	CV2878006	single nucleotide variant	NM_001205293.3(CACNA1E):c.3732-10T>C	not provided [RCV003545124]	likely benign	1	181752133	181752133	Human		name
402467705	CV2910612	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+18G>T	not provided [RCV003569734]	likely benign	1	181716147	181716147	Human		name
405178743	CV2913111	single nucleotide variant	NM_001205293.3(CACNA1E):c.4330-17C>A	not provided [RCV003563770]	likely benign	1	181757930	181757930	Human		name
405188917	CV2917983	single nucleotide variant	NM_001205293.3(CACNA1E):c.3828+19G>C	not provided [RCV003564723]	likely benign	1	181752258	181752258	Human		name
402481580	CV2921580	single nucleotide variant	NM_001205293.3(CACNA1E):c.4606-15G>A	not provided [RCV003572146]	likely benign	1	181762559	181762559	Human		name
405010772	CV2927072	single nucleotide variant	NM_001205293.3(CACNA1E):c.5579-16A>G	not provided [RCV003576611]	likely benign	1	181785302	181785302	Human		name
402514764	CV2936246	single nucleotide variant	NM_001205293.3(CACNA1E):c.6400-16C>T	not provided [RCV003662856]	likely benign	1	181798276	181798276	Human		name
402509695	CV2938582	single nucleotide variant	NM_001205293.3(CACNA1E):c.5139+11T>C	not provided [RCV003662447]	likely benign	1	181772242	181772242	Human		name
405112246	CV2938920	single nucleotide variant	NM_001205293.3(CACNA1E):c.5364+11C>T	not provided [RCV003666459]	likely benign	1	181781534	181781534	Human		name
405081322	CV2941817	single nucleotide variant	NM_001205293.3(CACNA1E):c.4881+20G>A	not provided [RCV003664614]	likely benign	1	181766631	181766631	Human		name
405076821	CV2948673	single nucleotide variant	NM_001205293.3(CACNA1E):c.3829-20G>T	not provided [RCV003664311]	likely benign	1	181755217	181755217	Human		name
405115620	CV2953195	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-18T>A	not provided [RCV003666887]	likely benign	1	181710936	181710936	Human		name
405129262	CV2953510	single nucleotide variant	NM_001205293.3(CACNA1E):c.4689+20C>A	not provided [RCV003672263]	likely benign	1	181762677	181762677	Human		name
405122782	CV2954165	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+18G>A	not provided [RCV003667600]	likely benign	1	181720873	181720873	Human		name
405129453	CV2957305	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+16G>A	not provided [RCV003672209]	likely benign	1	181776244	181776244	Human		name
405190155	CV2964696	single nucleotide variant	NM_001205293.3(CACNA1E):c.5471-16A>T	not provided [RCV003677127]	likely benign	1	181784645	181784645	Human		name
405222327	CV2976276	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+11C>A	not provided [RCV003680881]	likely benign	1	181755408	181755408	Human		name
405247751	CV2976835	single nucleotide variant	NM_001205293.3(CACNA1E):c.2074+12A>G	not provided [RCV003685741]	likely benign	1	181721887	181721887	Human		name
405217096	CV2978275	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+17C>G	not provided [RCV003709462]	likely benign	1	181737671	181737671	Human		name
405233789	CV2981895	single nucleotide variant	NM_001205293.3(CACNA1E):c.5579-19G>A	not provided [RCV003711954]	likely benign	1	181785299	181785299	Human		name
405202830	CV2989321	single nucleotide variant	NM_001205293.3(CACNA1E):c.6399+17A>C	not provided [RCV003678360]	likely benign	1	181796875	181796875	Human		name
402512074	CV2991226	single nucleotide variant	NM_001205293.3(CACNA1E):c.1226-17C>G	not provided [RCV003689638]	likely benign	1	181716023	181716023	Human		name
405115850	CV2996484	single nucleotide variant	NM_001205293.3(CACNA1E):c.4882-15G>A	not provided [RCV003723348]	likely benign	1	181771278	181771278	Human		name
405249040	CV3003907	single nucleotide variant	NM_001205293.3(CACNA1E):c.4974-13C>T	not provided [RCV003721255]	likely benign	1	181772053	181772053	Human		name
405075741	CV3007892	single nucleotide variant	NM_001205293.3(CACNA1E):c.4690-16C>A	not provided [RCV003716746]	likely benign	1	181763390	181763390	Human		name
405077588	CV3008155	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-14C>A	not provided [RCV003716865]	likely benign	1	181710940	181710940	Human		name
402501558	CV3010427	single nucleotide variant	NM_001205293.3(CACNA1E):c.1751+19G>A	not provided [RCV003688469]	likely benign	1	181719882	181719882	Human		name
405127681	CV3013876	single nucleotide variant	NM_001205293.3(CACNA1E):c.4689+18T>C	not provided [RCV003701372]	likely benign	1	181762675	181762675	Human		name
405057520	CV3019652	single nucleotide variant	NM_001205293.3(CACNA1E):c.1226-10C>G	not provided [RCV003697446]	likely benign	1	181716030	181716030	Human		name
405089055	CV3025131	single nucleotide variant	NM_001205293.3(CACNA1E):c.6400-19T>C	not provided [RCV003699609]	likely benign	1	181798273	181798273	Human		name
402511909	CV3039687	single nucleotide variant	NM_001205293.3(CACNA1E):c.2074+11T>C	not provided [RCV003715761]	likely benign	1	181721886	181721886	Human		name
402511832	CV3042712	single nucleotide variant	NM_001205293.3(CACNA1E):c.3990-13G>C	not provided [RCV003715756]	likely benign	1	181755943	181755943	Human		name
405170308	CV3122473	single nucleotide variant	NM_001205293.3(CACNA1E):c.5579-18C>T	not provided [RCV003819062]	likely benign	1	181785300	181785300	Human		name
405148508	CV3123180	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+13C>T	not provided [RCV003817413]	likely benign	1	181776241	181776241	Human		name
404994537	CV3132587	single nucleotide variant	NM_001205293.3(CACNA1E):c.4128-10G>A	not provided [RCV003827526]	likely benign	1	181756915	181756915	Human		name
405092798	CV3134572	single nucleotide variant	NM_001205293.3(CACNA1E):c.3719+17A>T	not provided [RCV003834918]	likely benign	1	181739270	181739270	Human		name
405080377	CV3137171	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+14G>A	not provided [RCV003834070]	likely benign	1	181763545	181763545	Human		name
405076469	CV3140819	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+11A>G	not provided [RCV003833782]	likely benign	1	181737665	181737665	Human		name
405045025	CV3141590	single nucleotide variant	NM_001205293.3(CACNA1E):c.4494+19A>G	not provided [RCV003831691]	likely benign	1	181758130	181758130	Human		name
405213179	CV3142767	single nucleotide variant	NM_001205293.3(CACNA1E):c.5898+17T>C	not provided [RCV003846124]	likely benign	1	181790573	181790573	Human		name
405177346	CV3148602	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-11T>C	not provided [RCV003858379]	likely benign	1	181790434	181790434	Human		name
405207922	CV3162100	single nucleotide variant	NM_001205293.3(CACNA1E):c.1883+16C>A	not provided [RCV003861594]	likely benign	1	181720353	181720353	Human		name
405132683	CV3163755	single nucleotide variant	NM_001205293.3(CACNA1E):c.3262+12G>A	not provided [RCV003854743]	likely benign	1	181733762	181733762	Human		name
405133563	CV3163905	single nucleotide variant	NM_001205293.3(CACNA1E):c.5579-18C>A	not provided [RCV003854893]	likely benign	1	181785300	181785300	Human		name
405244453	CV3165290	single nucleotide variant	NM_001205293.3(CACNA1E):c.2948+14A>G	not provided [RCV003868175]	likely benign	1	181733048	181733048	Human		name
405200293	CV3168780	single nucleotide variant	NM_001205293.3(CACNA1E):c.5140-15C>T	not provided [RCV003860718]	likely benign	1	181776086	181776086	Human		name
404997122	CV3176567	single nucleotide variant	NM_001205293.3(CACNA1E):c.5680-14C>T	not provided [RCV003881999]	likely benign	1	181785699	181785699	Human		name
402465659	CV3177319	single nucleotide variant	NM_001205293.3(CACNA1E):c.4494+18C>T	not provided [RCV003872950]	likely benign	1	181758129	181758129	Human		name
407572726	CV3497215	single nucleotide variant	NM_001205293.3(CACNA1E):c.1751+43T>A	not provided [RCV004699035]	uncertain significance	1	181719906	181719906	Human		name
597931818	CV3742576	single nucleotide variant	NM_001205293.3(CACNA1E):c.1752-12T>G	not provided [RCV005076015]	likely benign	1	181720194	181720194	Human		name
597893138	CV3743923	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+17C>T	not provided [RCV005071393]	likely benign	1	181771401	181771401	Human		name
597877453	CV3744259	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-12A>G	not provided [RCV005069473]	likely benign	1	181790433	181790433	Human		name
597896813	CV3744517	single nucleotide variant	NM_001205293.3(CACNA1E):c.2297+13C>A	not provided [RCV005071795]	likely benign	1	181731244	181731244	Human		name
597928648	CV3749163	single nucleotide variant	NM_001205293.3(CACNA1E):c.2142+15C>T	not provided [RCV005075619]	likely benign	1	181724552	181724552	Human		name
597970086	CV3750107	single nucleotide variant	NM_001205293.3(CACNA1E):c.1172-12G>A	not provided [RCV005084048]	likely benign	1	181715326	181715326	Human		name
597965071	CV3751081	single nucleotide variant	NM_001205293.3(CACNA1E):c.2240+18T>G	not provided [RCV005082643]	likely benign	1	181726180	181726180	Human		name
597954567	CV3754075	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-10C>T	not provided [RCV005080118]	likely benign	1	181737515	181737515	Human		name
597871762	CV3768390	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+19C>A	not provided [RCV005122769]	likely benign	1	181750506	181750506	Human		name
597861645	CV3770249	single nucleotide variant	NM_001205293.3(CACNA1E):c.4127+19A>C	not provided [RCV005106102]	likely benign	1	181756112	181756112	Human		name
597875511	CV3775635	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+18G>C	not provided [RCV005123366]	likely benign	1	181716147	181716147	Human		name
597915021	CV3778952	single nucleotide variant	NM_001205293.3(CACNA1E):c.3731+13G>C	not provided [RCV005129297]	likely benign	1	181750500	181750500	Human		name
597897899	CV3782457	single nucleotide variant	NM_001205293.3(CACNA1E):c.3829-10C>G	not provided [RCV005126682]	likely benign	1	181755227	181755227	Human		name
597944442	CV3782830	single nucleotide variant	NM_001205293.3(CACNA1E):c.2949-14C>G	not provided [RCV005134370]	likely benign	1	181733423	181733423	Human		name
597903449	CV3784478	single nucleotide variant	NM_001205293.3(CACNA1E):c.5364+18T>G	not provided [RCV005127530]	likely benign	1	181781541	181781541	Human		name
597891646	CV3785024	single nucleotide variant	NM_001205293.3(CACNA1E):c.6028-19T>C	not provided [RCV005125803]	likely benign	1	181794845	181794845	Human		name
597942515	CV3786243	single nucleotide variant	NM_001205293.3(CACNA1E):c.2241-13T>G	not provided [RCV005133934]	uncertain significance	1	181731162	181731162	Human		name
597889444	CV3788099	single nucleotide variant	NM_001205293.3(CACNA1E):c.3263-12T>A	not provided [RCV005125457]	likely benign	1	181736263	181736263	Human		name
597929697	CV3789142	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+11C>T	not provided [RCV005131423]	likely benign	1	181755408	181755408	Human		name
597961840	CV3795278	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+13A>C	not provided [RCV005138970]	likely benign	1	181716142	181716142	Human		name
597959069	CV3797467	single nucleotide variant	NM_001205293.3(CACNA1E):c.3990-18T>C	not provided [RCV005138154]	likely benign	1	181755938	181755938	Human		name
597885029	CV3799694	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+15G>A	not provided [RCV005150361]	likely benign	1	181737669	181737669	Human		name
597895937	CV3810470	single nucleotide variant	NM_001205293.3(CACNA1E):c.3719+14T>G	not provided [RCV005151995]	likely benign	1	181739267	181739267	Human		name
597944680	CV3812574	single nucleotide variant	NM_001205293.3(CACNA1E):c.2298-15C>T	not provided [RCV005159784]	likely benign	1	181732369	181732369	Human		name
597839374	CV3824946	single nucleotide variant	NM_001205293.3(CACNA1E):c.3719+17A>G	not provided [RCV005171810]	likely benign	1	181739270	181739270	Human		name
597879745	CV3826295	single nucleotide variant	NM_001205293.3(CACNA1E):c.5786+17C>T	not provided [RCV005177991]	likely benign	1	181785836	181785836	Human		name
597876027	CV3829773	single nucleotide variant	NM_001205293.3(CACNA1E):c.1056-17A>G	not provided [RCV005177481]	likely benign	1	181710937	181710937	Human		name
597831454	CV3830784	single nucleotide variant	NM_001205293.3(CACNA1E):c.2297+13C>T	not provided [RCV005170182]	likely benign	1	181731244	181731244	Human		name
597975212	CV3832276	single nucleotide variant	NM_001205293.3(CACNA1E):c.1525+18C>T	not provided [RCV005169013]	likely benign	1	181717320	181717320	Human		name
597894380	CV3833541	single nucleotide variant	NM_001205293.3(CACNA1E):c.4330-16C>T	not provided [RCV005180233]	likely benign	1	181757931	181757931	Human		name
597914345	CV3851095	single nucleotide variant	NM_001205293.3(CACNA1E):c.5471-12A>G	not provided [RCV005204063]	likely benign	1	181784649	181784649	Human		name
597920415	CV3852018	single nucleotide variant	NM_001205293.3(CACNA1E):c.3262+18G>A	not provided [RCV005204998]	likely benign	1	181733768	181733768	Human		name
597910009	CV3854153	single nucleotide variant	NM_001205293.3(CACNA1E):c.5578+19G>C	not provided [RCV005203421]	likely benign	1	181784787	181784787	Human		name
597879373	CV3856954	single nucleotide variant	NM_001205293.3(CACNA1E):c.4974-12T>C	not provided [RCV005198754]	likely benign	1	181772054	181772054	Human		name
150514180	CV1210899	duplication	NM_001205293.3(CACNA1E):c.5787-136dup	not provided [RCV001598942]	benign	1	181790307	181790308	Human		name
150511874	CV1212858	single nucleotide variant	NM_001205293.3(CACNA1E):c.5470+110T>C	not provided [RCV001598090]	benign	1	181783894	181783894	Human		name
150434556	CV1215919	single nucleotide variant	NM_001205293.3(CACNA1E):c.5579-140G>C	not provided [RCV001609107]	benign	1	181785178	181785178	Human		name
150473682	CV1217671	single nucleotide variant	NM_001205293.3(CACNA1E):c.1957-149A>T	not provided [RCV001615682]	benign	1	181721609	181721609	Human		name
150454527	CV1220002	single nucleotide variant	NM_001205293.3(CACNA1E):c.1751+113C>T	not provided [RCV001612384]	benign	1	181719976	181719976	Human		name
150501789	CV1224287	single nucleotide variant	NM_001205293.3(CACNA1E):c.2143-131T>C	not provided [RCV001620928]	benign	1	181725934	181725934	Human		name
150517186	CV1226634	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+217T>C	not provided [RCV001639728]	benign	1	181763748	181763748	Human		name
150512924	CV1228841	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-329C>T	not provided [RCV001637683]	benign	1	181790116	181790116	Human		name
150433268	CV1230469	single nucleotide variant	NM_001205293.3(CACNA1E):c.5365-101C>T	not provided [RCV001643414]	benign	1	181783578	181783578	Human		name
150504759	CV1240818	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-108T>A	not provided [RCV001657661]	benign	1	181790337	181790337	Human		name
150495016	CV1241499	single nucleotide variant	NM_001205293.3(CACNA1E):c.5578+155A>C	not provided [RCV001655506]	benign	1	181784923	181784923	Human		name
150506120	CV1242136	single nucleotide variant	NM_001205293.3(CACNA1E):c.1525+255C>T	not provided [RCV001658489]	benign	1	181717557	181717557	Human		name
150507113	CV1242379	single nucleotide variant	NM_001205293.3(CACNA1E):c.1055+120G>C	not provided [RCV001658734]	benign	1	181651561	181651561	Human		name
150468591	CV1243021	single nucleotide variant	NM_001205293.3(CACNA1E):c.4974-278A>G	not provided [RCV001650539]	benign	1	181771788	181771788	Human	1	name
150431559	CV1243737	deletion	NM_001205293.3(CACNA1E):c.5787-138del	not provided [RCV001663357]	likely benign	1	181790291	181790291	Human		name
150481843	CV1244173	single nucleotide variant	NM_001205293.3(CACNA1E):c.6400-258T>C	not provided [RCV001653019]	likely benign	1	181798034	181798034	Human		name
150482414	CV1244273	duplication	NM_001205293.3(CACNA1E):c.5787-138dup	not provided [RCV001653120]	benign	1	181790290	181790291	Human		name
150482741	CV1244324	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-138T>A	not provided [RCV001653172]	likely benign	1	181790307	181790307	Human		name
150510028	CV1248477	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-164C>G	not provided [RCV001659545]	benign	1	181790281	181790281	Human		name
150443998	CV1249354	single nucleotide variant	NM_001205293.3(CACNA1E):c.4973+223A>G	not provided [RCV001666786]	benign	1	181771607	181771607	Human		name
150436632	CV1249723	single nucleotide variant	NM_001205293.3(CACNA1E):c.3829-164A>G	not provided [RCV001665637]	benign	1	181755073	181755073	Human		name
150465374	CV1252871	single nucleotide variant	NM_001205293.3(CACNA1E):c.5365-286A>T	not provided [RCV001670195]	benign	1	181783393	181783393	Human		name
150460917	CV1253176	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-109G>A	not provided [RCV001669505]	benign	1	181737416	181737416	Human		name
150507900	CV1257255	single nucleotide variant	NM_001205293.3(CACNA1E):c.4495-301T>C	not provided [RCV001678554]	benign	1	181758457	181758457	Human	2	name
150507900	CV1257255	single nucleotide variant	NM_001205293.3(CACNA1E):c.4495-301T>C	not provided [RCV001678554]	benign	1	181758457	181758458	Human	2	name
150506938	CV1258092	single nucleotide variant	NM_001205293.3(CACNA1E):c.1226-289A>T	not provided [RCV001678309]	benign	1	181715751	181715751	Human		name
150445330	CV1261180	single nucleotide variant	NM_001205293.3(CACNA1E):c.3423-121C>T	not provided [RCV001679854]	benign	1	181737404	181737404	Human		name
150485854	CV1262180	deletion	NM_001205293.3(CACNA1E):c.1957-131del	not provided [RCV001686871]	benign	1	181721615	181721615	Human		name
150440181	CV1265072	single nucleotide variant	NM_001205293.3(CACNA1E):c.3732-101A>G	not provided [RCV001679065]	benign	1	181752042	181752042	Human		name
150458779	CV1265187	single nucleotide variant	NM_001205293.3(CACNA1E):c.3422+212A>T	not provided [RCV001681821]	benign	1	181736646	181736646	Human		name
150440994	CV1267005	single nucleotide variant	NM_001205293.3(CACNA1E):c.5364+273T>C	not provided [RCV001690441]	benign	1	181781796	181781796	Human		name
150492958	CV1267048	single nucleotide variant	NM_001205293.3(CACNA1E):c.2142+249A>G	not provided [RCV001688075]	benign	1	181724786	181724786	Human		name
150457288	CV1269469	single nucleotide variant	NM_001205293.3(CACNA1E):c.4495-233G>C	not provided [RCV001693009]	benign	1	181758525	181758525	Human		name
150471063	CV1269994	single nucleotide variant	NM_001205293.3(CACNA1E):c.5898+197A>G	not provided [RCV001695281]	benign	1	181790753	181790753	Human		name
150496571	CV1271565	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+168A>T	not provided [RCV001688865]	benign	1	181716297	181716297	Human		name
150496966	CV1271649	single nucleotide variant	NM_001205293.3(CACNA1E):c.2143-113T>G	not provided [RCV001688950]	benign	1	181725952	181725952	Human		name
150483724	CV1280274	single nucleotide variant	NM_001205293.3(CACNA1E):c.2075-287C>T	not provided [RCV001715236]	benign	1	181724183	181724183	Human		name
150499339	CV1282673	single nucleotide variant	NM_001205293.3(CACNA1E):c.5267+216G>A	not provided [RCV001718174]	benign	1	181776444	181776444	Human		name
150480511	CV1282756	single nucleotide variant	NM_001205293.3(CACNA1E):c.3829-202G>A	not provided [RCV001714662]	benign	1	181755035	181755035	Human		name
150499457	CV1282758	single nucleotide variant	NM_001205293.3(CACNA1E):c.4882-228T>C	not provided [RCV001718194]	benign	1	181771065	181771065	Human		name
150499463	CV1282759	single nucleotide variant	NM_001205293.3(CACNA1E):c.4329+151G>A	not provided [RCV001718195]	benign	1	181757277	181757277	Human		name
150499467	CV1282760	deletion	NM_001205293.3(CACNA1E):c.1884-114del	not provided [RCV001718196]	benign	1	181720669	181720669	Human		name
150494794	CV1282761	single nucleotide variant	NM_001205293.3(CACNA1E):c.3613-115A>G	not provided [RCV001717263]	benign	1	181739032	181739032	Human		name
150495846	CV1283082	deletion	NM_001205293.3(CACNA1E):c.1315+183del	not provided [RCV001717479]	benign	1	181716297	181716297	Human		name
150515265	CV1285483	duplication	NM_001205293.3(CACNA1E):c.1315+183dup	not provided [RCV001722936]	benign	1	181716296	181716297	Human		name
150520734	CV1290583	single nucleotide variant	NM_001205293.3(CACNA1E):c.5140-255A>G	not provided [RCV001732275]	likely benign	1	181775846	181775846	Human		name
150520756	CV1290594	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+203G>A	not provided [RCV001732286]	likely benign	1	181755600	181755600	Human		name
150520779	CV1290606	single nucleotide variant	NM_001205293.3(CACNA1E):c.4689+147A>G	not provided [RCV001732298]	likely benign	1	181762804	181762804	Human		name
150520789	CV1290611	single nucleotide variant	NM_001205293.3(CACNA1E):c.6027+280G>A	not provided [RCV001732303]	likely benign	1	181794073	181794073	Human		name
150520793	CV1290613	single nucleotide variant	NM_001205293.3(CACNA1E):c.5787-123C>G	not provided [RCV001732305]	likely benign	1	181790322	181790322	Human		name
150520803	CV1290618	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+171G>C	not provided [RCV001732310]	likely benign	1	181718338	181718338	Human		name
150520825	CV1290629	single nucleotide variant	NM_001205293.3(CACNA1E):c.5578+129G>A	not provided [RCV001732321]	likely benign	1	181784897	181784897	Human		name
150520831	CV1290632	single nucleotide variant	NM_001205293.3(CACNA1E):c.1525+148G>T	not provided [RCV001732324]	likely benign	1	181717450	181717450	Human		name
150520886	CV1290661	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+269A>G	not provided [RCV001732352]	likely benign	1	181763800	181763800	Human		name
150520948	CV1290696	single nucleotide variant	NM_001205293.3(CACNA1E):c.5365-198A>T	not provided [RCV001732377]	likely benign	1	181783481	181783481	Human		name
150531119	CV1290719	single nucleotide variant	NM_001205293.3(CACNA1E):c.3989+149T>C	not provided [RCV001732900]	likely benign	1	181755546	181755546	Human		name
150521060	CV1290816	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+165A>T	not provided [RCV001732468]	likely benign	1	181721020	181721020	Human		name
150531169	CV1290823	single nucleotide variant	NM_001205293.3(CACNA1E):c.5578+146A>G	not provided [RCV001732927]	likely benign	1	181784914	181784914	Human		name
150521148	CV1290899	single nucleotide variant	NM_001205293.3(CACNA1E):c.4815+237G>A	not provided [RCV001732529]	likely benign	1	181763768	181763768	Human		name
150531216	CV1290924	single nucleotide variant	NM_001205293.3(CACNA1E):c.2297+122T>C	not provided [RCV001732954]	likely benign	1	181731353	181731353	Human		name
150521365	CV1291058	single nucleotide variant	NM_001205293.3(CACNA1E):c.3732-263C>T	not provided [RCV001732645]	likely benign	1	181751880	181751880	Human		name
150531404	CV1291174	single nucleotide variant	NM_001205293.3(CACNA1E):c.2075-220G>T	not provided [RCV001733050]	likely benign	1	181724250	181724250	Human		name
150531445	CV1291209	single nucleotide variant	NM_001205293.3(CACNA1E):c.1639-172A>G	not provided [RCV001733074]	likely benign	1	181719579	181719579	Human		name
150530072	CV1291262	single nucleotide variant	NM_001205293.3(CACNA1E):c.5470+331A>T	not provided [RCV001732724]	likely benign	1	181784115	181784115	Human		name
150530087	CV1291287	single nucleotide variant	NM_001205293.3(CACNA1E):c.1957-184T>C	not provided [RCV001732731]	likely benign	1	181721574	181721574	Human		name
150531660	CV1291334	single nucleotide variant	NM_001205293.3(CACNA1E):c.1526-210G>T	not provided [RCV001733168]	likely benign	1	181717845	181717845	Human		name
150531711	CV1291356	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+248C>T	not provided [RCV001733186]	likely benign	1	181718415	181718415	Human		name
150531714	CV1291357	single nucleotide variant	NM_001205293.3(CACNA1E):c.2074+143T>G	not provided [RCV001733187]	likely benign	1	181722018	181722018	Human		name
150530122	CV1291359	single nucleotide variant	NM_001205293.3(CACNA1E):c.1639-334G>A	not provided [RCV001732748]	likely benign	1	181719417	181719417	Human		name
150531719	CV1291360	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+114C>A	not provided [RCV001733189]	likely benign	1	181718281	181718281	Human		name
150531768	CV1291385	single nucleotide variant	NM_001205293.3(CACNA1E):c.3719+198C>T	not provided [RCV001733207]	likely benign	1	181739451	181739451	Human		name
150531770	CV1291386	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+193T>C	not provided [RCV001733208]	likely benign	1	181721048	181721048	Human		name
150531779	CV1291389	single nucleotide variant	NM_001205293.3(CACNA1E):c.6209-135G>T	not provided [RCV001733211]	likely benign	1	181796533	181796533	Human		name
150531782	CV1291390	single nucleotide variant	NM_001205293.3(CACNA1E):c.1525+106A>G	not provided [RCV001733212]	likely benign	1	181717408	181717408	Human		name
150531803	CV1291402	single nucleotide variant	NM_001205293.3(CACNA1E):c.2074+108G>A	not provided [RCV001733219]	likely benign	1	181721983	181721983	Human		name
150531804	CV1291403	single nucleotide variant	NM_001205293.3(CACNA1E):c.1956+293T>G	not provided [RCV001733220]	likely benign	1	181721148	181721148	Human		name
150531834	CV1291427	single nucleotide variant	NM_001205293.3(CACNA1E):c.2074+114A>C	not provided [RCV001733236]	likely benign	1	181721989	181721989	Human		name
150531908	CV1291501	single nucleotide variant	NM_001205293.3(CACNA1E):c.1526-242A>G	not provided [RCV001733292]	likely benign	1	181717813	181717813	Human		name
150531911	CV1291504	single nucleotide variant	NM_001205293.3(CACNA1E):c.1525+243G>A	not provided [RCV001733294]	likely benign	1	181717545	181717545	Human		name
150531936	CV1291534	single nucleotide variant	NM_001205293.3(CACNA1E):c.3828+140T>G	not provided [RCV001733315]	likely benign	1	181752379	181752379	Human		name
150531991	CV1291744	single nucleotide variant	NM_001205293.3(CACNA1E):c.4494+263T>G	not provided [RCV001733462]	likely benign	1	181758374	181758374	Human		name
150532010	CV1291772	single nucleotide variant	NM_001205293.3(CACNA1E):c.3719+143C>G	not provided [RCV001733484]	likely benign	1	181739396	181739396	Human		name
150533289	CV1292482	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+255T>C	not provided [RCV001754089]	likely benign	1	181737909	181737909	Human		name
150534094	CV1292860	single nucleotide variant	NM_001205293.3(CACNA1E):c.1315+194A>G	not provided [RCV001756253]	likely benign	1	181716323	181716323	Human		name
150534203	CV1293278	single nucleotide variant	NM_001205293.3(CACNA1E):c.3552+242A>G	not provided [RCV001756498]	likely benign	1	181737896	181737896	Human		name
151232513	CV1316817	single nucleotide variant	NM_001205293.3(CACNA1E):c.4816-264G>C	not provided [RCV001786637]	likely benign	1	181766282	181766282	Human		name
151233013	CV1317690	single nucleotide variant	NM_001205293.3(CACNA1E):c.2948+160G>T	not provided [RCV001787456]	likely benign	1	181733194	181733194	Human		name
151234733	CV1320454	single nucleotide variant	NM_001205293.3(CACNA1E):c.1638+254T>A	not provided [RCV001800078]	likely benign	1	181718421	181718421	Human		name
151662497	CV1333153	single nucleotide variant	NM_001205293.3(CACNA1E):c.3612+226A>G	Developmental and epileptic encephalopathy, 69 [RCV001837386]	uncertain significance	1	181738652	181738652	Human	1	name
152076371	CV1565483	microsatellite	NM_001205293.3(CACNA1E):c.512+13TC[3]	not provided [RCV002148747]	likely benign	1	181511523	181511524	Human		name
151663763	CV1334229	single nucleotide variant	NM_001205293.3(CACNA1E):c.513-15449G>A	Developmental and epileptic encephalopathy, 69 [RCV001839403]	uncertain significance	1	181562317	181562317	Human	1	name
152092481	CV1571187	microsatellite	NM_001205293.3(CACNA1E):c.4974-14TC[4]	not provided [RCV002150769]	likely benign	1	181772051	181772052	Human		name
153301151	CV1688997	single nucleotide variant	NM_001205293.3(CACNA1E):c.951+29674C>T	Developmental and epileptic encephalopathy, 69 [RCV002266725]	uncertain significance	1	181610450	181610450	Human	1	name
401906311	CV2806223	single nucleotide variant	NM_001205293.3(CACNA1E):c.5268-1936G>A	not provided [RCV003421257]	benign	1	181779491	181779491	Human		name
597972782	CV3790707	microsatellite	NM_001205293.3(CACNA1E):c.2949-14CT[3]	not provided [RCV005142922]	likely benign	1	181733423	181733424	Human		name
150459622	CV1268368	microsatellite	NM_001205293.3(CACNA1E):c.5365-200ACA[5]	not provided [RCV001693365]	benign	1	181783479	181783481	Human		name
156340949	CV1984888	microsatellite	NM_001205293.3(CACNA1E):c.617-7_617-4del	not provided [RCV002631429]	likely benign	1	181579059	181579062	Human		name
156325428	CV2184266	microsatellite	NM_001205293.3(CACNA1E):c.2947_2948+1del	not provided [RCV003046905]	uncertain significance	1	181733030	181733032	Human		name
597915077	CV3778960	deletion	NM_001205293.3(CACNA1E):c.372+5_372+18del	not provided [RCV005129305]	uncertain significance	1	181510586	181510599	Human		name
597848759	CV3824148	single nucleotide variant	NM_001205293.3(CACNA1E):c.12C>T (p.Phe4=)	not provided [RCV005173387]	likely benign	1	181483756	181483756	Human		name
127312272	CV1153376	microsatellite	NM_001205293.3(CACNA1E):c.4882-6_4882-4del	Developmental and epileptic encephalopathy, 69 [RCV002476820]\|Inborn genetic diseases [RCV005308488]\|not provided [RCV001518894]	benign\|likely benign	1	181771284	181771286	Human		name
151842455	CV1379673	single nucleotide variant	NM_001205293.3(CACNA1E):c.99G>A (p.Ser33=)	not provided [RCV001936283]	likely benign\|uncertain significance	1	181483843	181483843	Human		name
152062272	CV1533017	single nucleotide variant	NM_001205293.3(CACNA1E):c.36A>G (p.Pro12=)	not provided [RCV002090397]	likely benign	1	181483780	181483780	Human		name
152078474	CV1557739	single nucleotide variant	NM_001205293.3(CACNA1E):c.75G>T (p.Arg25=)	not provided [RCV002170238]	benign	1	181483819	181483819	Human		name
152069254	CV1562313	single nucleotide variant	NM_001205293.3(CACNA1E):c.87C>G (p.Pro29=)	not provided [RCV002169079]	likely benign	1	181483831	181483831	Human		name
152041806	CV1624132	microsatellite	NM_001205293.3(CACNA1E):c.512+24_512+27del	not provided [RCV002126188]	likely benign	1	181511529	181511532	Human		name
152025875	CV1627687	single nucleotide variant	NM_001205293.3(CACNA1E):c.69G>A (p.Arg23=)	not provided [RCV002104359]	likely benign	1	181483813	181483813	Human		name
152134183	CV1646631	deletion	NM_001205293.3(CACNA1E):c.2298-8_2298-6del	not provided [RCV002137320]	likely benign	1	181732376	181732378	Human		name
152053273	CV1651495	single nucleotide variant	NM_001205293.3(CACNA1E):c.39G>A (p.Gly13=)	not provided [RCV002145944]	likely benign	1	181483783	181483783	Human		name
152078346	CV1663799	deletion	NM_001205293.3(CACNA1E):c.770-22_770-15del	not provided [RCV002076038]	likely benign	1	181580569	181580576	Human		name
156165530	CV1907713	single nucleotide variant	NM_001205293.3(CACNA1E):c.33G>A (p.Arg11=)	not provided [RCV003083058]	likely benign	1	181483777	181483777	Human		name
156324071	CV1988764	deletion	NM_001205293.3(CACNA1E):c.372+19_372+21del	not provided [RCV002649439]	likely benign	1	181510599	181510601	Human		name
156221717	CV2015529	inversion	NM_001205293.3(CACNA1E):c.1056-8_1056-7inv	not provided [RCV002701030]	uncertain significance	1	181710946	181710947	Human		name
156035553	CV2089373	deletion	NM_001205293.3(CACNA1E):c.6208+7_6208+8del	not provided [RCV002867232]	likely benign	1	181795050	181795051	Human		name
156116689	CV2182983	microsatellite	NM_001205293.3(CACNA1E):c.617-16_617-15del	not provided [RCV003039153]	likely benign	1	181579053	181579054	Human		name
401906303	CV2806215	single nucleotide variant	NM_001205293.3(CACNA1E):c.7C>T (p.Arg3Cys)	not provided [RCV003421249]	uncertain significance	1	181483751	181483751	Human		name
405241892	CV2970935	single nucleotide variant	NM_001205293.3(CACNA1E):c.93G>A (p.Pro31=)	not provided [RCV003684233]	likely benign	1	181483837	181483837	Human		name
405069440	CV3140127	single nucleotide variant	NM_001205293.3(CACNA1E):c.87C>T (p.Pro29=)	not provided [RCV003833282]	likely benign	1	181483831	181483831	Human		name
597945467	CV3807343	microsatellite	NM_001205293.3(CACNA1E):c.3262+6_3262+7del	not provided [RCV005159978]	uncertain significance	1	181733753	181733754	Human		name
597959142	CV3815045	microsatellite	NM_001205293.3(CACNA1E):c.6208+7_6208+9del	not provided [RCV005163171]	likely benign	1	181795047	181795049	Human		name
15155653	CV696301	single nucleotide variant	NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=)	Developmental and epileptic encephalopathy, 69 [RCV002505408]\|not provided [RCV000946535]	benign\|likely benign	1	181483801	181483801	Human	1	name
151351744	CV1321954	single nucleotide variant	NM_001205293.3(CACNA1E):c.246C>G (p.Ala82=)	Developmental and epileptic encephalopathy, 69 [RCV003458772]\|not provided [RCV001806624]	likely benign\|uncertain significance	1	181483990	181483990	Human	1	name
152072173	CV1544219	single nucleotide variant	NM_001205293.3(CACNA1E):c.141G>T (p.Ala47=)	not provided [RCV002169440]	likely benign	1	181483885	181483885	Human		name
152078755	CV1557782	duplication	NM_001205293.3(CACNA1E):c.3990-12_3990-8dup	not provided [RCV002170269]	likely benign	1	181755939	181755940	Human		name
152128405	CV1572247	single nucleotide variant	NM_001205293.3(CACNA1E):c.207G>C (p.Leu69=)	not provided [RCV002217726]	likely benign	1	181483951	181483951	Human		name
152107156	CV1579257	single nucleotide variant	NM_001205293.3(CACNA1E):c.195C>G (p.Val65=)	not provided [RCV002173863]	likely benign	1	181483939	181483939	Human		name
152090265	CV1594028	single nucleotide variant	NM_001205293.3(CACNA1E):c.204C>T (p.Ser68=)	not provided [RCV002171731]	likely benign	1	181483948	181483948	Human		name
152106539	CV1609658	single nucleotide variant	NM_001205293.3(CACNA1E):c.183C>T (p.Asn61=)	CACNA1E-related disorder [RCV003958741]\|not provided [RCV002116002]	benign\|likely benign	1	181483927	181483927	Human	1	name , alternate_id
152085809	CV1617387	single nucleotide variant	NM_001205293.3(CACNA1E):c.102G>A (p.Gly34=)	not provided [RCV002076966]	likely benign	1	181483846	181483846	Human		name
152095087	CV1617686	single nucleotide variant	NM_001205293.3(CACNA1E):c.192C>G (p.Thr64=)	not provided [RCV002114596]	likely benign	1	181483936	181483936	Human		name
152168208	CV1645100	single nucleotide variant	NM_001205293.3(CACNA1E):c.261T>C (p.Asp87=)	not provided [RCV002142360]	likely benign	1	181484005	181484005	Human		name
152146968	CV1649654	single nucleotide variant	NM_001205293.3(CACNA1E):c.108G>A (p.Ala36=)	not provided [RCV002121200]	likely benign	1	181483852	181483852	Human		name
152173419	CV1662608	single nucleotide variant	NM_001205293.3(CACNA1E):c.126G>A (p.Thr42=)	not provided [RCV002144098]	likely benign	1	181483870	181483870	Human		name
156283415	CV1968068	single nucleotide variant	NM_001205293.3(CACNA1E):c.114C>T (p.Ala38=)	not provided [RCV002598470]	likely benign	1	181483858	181483858	Human		name
156358816	CV2020329	single nucleotide variant	NM_001205293.3(CACNA1E):c.171C>T (p.Pro57=)	not provided [RCV002720719]	likely benign	1	181483915	181483915	Human		name
155964544	CV2141059	single nucleotide variant	NM_001205293.3(CACNA1E):c.12C>G (p.Phe4Leu)	not provided [RCV003015632]	uncertain significance	1	181483756	181483756	Human		name
156215162	CV2176564	microsatellite	NM_001205293.3(CACNA1E):c.2949-14_2949-5del	not provided [RCV003024967]	likely benign	1	181733413	181733422	Human		name
405185329	CV2963850	single nucleotide variant	NM_001205293.3(CACNA1E):c.14G>A (p.Gly5Glu)	not provided [RCV003676692]	uncertain significance	1	181483758	181483758	Human		name
405173220	CV3150447	single nucleotide variant	NM_001205293.3(CACNA1E):c.117C>T (p.Tyr39=)	not provided [RCV003841721]	likely benign	1	181483861	181483861	Human		name
402475813	CV3173697	single nucleotide variant	NM_001205293.3(CACNA1E):c.165C>A (p.Pro55=)	not provided [RCV003875235]	likely benign	1	181483909	181483909	Human		name
597888272	CV3787713	single nucleotide variant	NM_001205293.3(CACNA1E):c.276G>A (p.Glu92=)	not provided [RCV005125280]	likely benign	1	181510486	181510486	Human		name
597921269	CV3811807	single nucleotide variant	NM_001205293.3(CACNA1E):c.291C>A (p.Ala97=)	not provided [RCV005155638]	likely benign	1	181510501	181510501	Human		name
597955308	CV3841209	single nucleotide variant	NM_001205293.3(CACNA1E):c.205C>T (p.Leu69=)	not provided [RCV005191328]	likely benign	1	181483949	181483949	Human		name
598123533	CV3890377	deletion	NM_001205293.3(CACNA1E):c.87del (p.Val30fs)	not provided [RCV005250896]	uncertain significance	1	181483827	181483827	Human		name
616935753	CV4016204	deletion	NM_001205293.3(CACNA1E):c.73del (p.Arg25fs)	not provided [RCV005415070]	uncertain significance	1	181483816	181483816	Human		name
8629137	CV84282	single nucleotide variant	NM_000721.3(CACNA1E):c.4587C>T (p.Val1529=)	Malignant melanoma [RCV000064364]	not provided	1	181758850	181758850	Human		name
127300604	CV1153367	single nucleotide variant	NM_001205293.3(CACNA1E):c.954C>T (p.Thr318=)	Developmental and epileptic encephalopathy, 69 [RCV003458713]\|not provided [RCV001514253]	benign	1	181651340	181651340	Human	1	name
150336693	CV1165477	single nucleotide variant	NM_001205293.3(CACNA1E):c.549C>T (p.His183=)	Developmental and epileptic encephalopathy, 69 [RCV003458720]\|not provided [RCV001532084]	likely benign	1	181577802	181577802	Human	1	name
150338420	CV1174091	single nucleotide variant	NM_001205293.3(CACNA1E):c.32G>T (p.Arg11Met)	Developmental and epileptic encephalopathy, 69 [RCV001542343]	uncertain significance	1	181483776	181483776	Human	1	name
150408160	CV1182549	microsatellite	NM_001205293.3(CACNA1E):c.5470+11_5470+15del	Developmental and epileptic encephalopathy, 69 [RCV001554441]\|not provided [RCV001638169]	benign	1	181783788	181783792	Human		name
150437077	CV1220664	single nucleotide variant	NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=)	CACNA1E-related disorder [RCV004752027]\|Developmental and epileptic encephalopathy, 69 [RCV003458728]\|not provided [RCV001609648]	benign\|likely benign	1	181580638	181580638	Human	1	name , alternate_id
150494240	CV1226120	single nucleotide variant	NM_001205293.3(CACNA1E):c.750A>G (p.Ala250=)	CACNA1E-related disorder [RCV003980815]\|Developmental and epileptic encephalopathy, 69 [RCV003458732]\|not provided [RCV001619339]	benign	1	181579205	181579205	Human	1	name , alternate_id
150529745	CV1293137	single nucleotide variant	NM_001205293.3(CACNA1E):c.501G>C (p.Val167=)	CACNA1E-related disorder [RCV003941117]\|Developmental and epileptic encephalopathy, 69 [RCV003458757]\|not provided [RCV001756355]	benign	1	181511499	181511499	Human	1	name , alternate_id
150551527	CV1297417	single nucleotide variant	NM_001205293.3(CACNA1E):c.56C>G (p.Ser19Trp)	not provided [RCV001767099]	uncertain significance	1	181483800	181483800	Human		name
151235182	CV1318443	single nucleotide variant	NM_001205293.3(CACNA1E):c.312C>T (p.Ile104=)	CACNA1E-related disorder [RCV004752053]\|not provided [RCV001794766]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	181510522	181510522	Human	1	name , alternate_id
151712989	CV1428606	single nucleotide variant	NM_001205293.3(CACNA1E):c.864G>C (p.Gly288=)	not provided [RCV002002350]	likely benign	1	181580689	181580689	Human		name
151752011	CV1457389	single nucleotide variant	NM_001205293.3(CACNA1E):c.43G>A (p.Gly15Ser)	not provided [RCV001913076]	uncertain significance	1	181483787	181483787	Human		name
151832628	CV1488131	single nucleotide variant	NM_001205293.3(CACNA1E):c.92C>T (p.Pro31Leu)	Inborn genetic diseases [RCV004970615]\|not provided [RCV001955826]	benign\|likely benign\|uncertain significance	1	181483836	181483836	Human	1	name
151794367	CV1506120	single nucleotide variant	NM_001205293.3(CACNA1E):c.324G>A (p.Leu108=)	not provided [RCV001917123]\|not specified [RCV003479360]	likely benign\|uncertain significance	1	181510534	181510534	Human		name
152102439	CV1523903	single nucleotide variant	NM_001205293.3(CACNA1E):c.600C>T (p.Leu200=)	not provided [RCV002133437]	likely benign	1	181577853	181577853	Human		name
152089724	CV1541637	single nucleotide variant	NM_001205293.3(CACNA1E):c.639C>T (p.Ser213=)	Developmental and epileptic encephalopathy, 69 [RCV003458845]\|not provided [RCV002171664]	likely benign	1	181579094	181579094	Human	1	name
152075841	CV1551288	single nucleotide variant	NM_001205293.3(CACNA1E):c.591T>G (p.Pro197=)	not provided [RCV002192395]	likely benign	1	181577844	181577844	Human		name
152129040	CV1554541	single nucleotide variant	NM_001205293.3(CACNA1E):c.777A>G (p.Leu259=)	not provided [RCV002176548]	likely benign	1	181580602	181580602	Human		name
152170976	CV1562034	microsatellite	NM_001205293.3(CACNA1E):c.3828+14_3828+15del	not provided [RCV002161947]	likely benign	1	181752251	181752252	Human		name
152093207	CV1584711	single nucleotide variant	NM_001205293.3(CACNA1E):c.372G>A (p.Leu124=)	not provided [RCV002114357]	likely benign\|conflicting interpretations of pathogenicity	1	181510582	181510582	Human		name
152131149	CV1585605	single nucleotide variant	NM_001205293.3(CACNA1E):c.882C>T (p.Asn294=)	not provided [RCV002155556]	likely benign	1	181580707	181580707	Human		name
152062555	CV1587575	single nucleotide variant	NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu)	Developmental and epileptic encephalopathy, 69 [RCV003146513]\|Inborn genetic diseases [RCV003007039]\|not provided [RCV002090431]	benign\|likely benign\|uncertain significance	1	181483800	181483800	Human	2	name
152061943	CV1594854	deletion	NM_001205293.3(CACNA1E):c.5365-20_5365-18del	not provided [RCV002190628]	likely benign	1	181783657	181783659	Human		name
152167418	CV1600685	single nucleotide variant	NM_001205293.3(CACNA1E):c.945G>A (p.Leu315=)	not provided [RCV002160864]	benign	1	181580770	181580770	Human		name
152118799	CV1600695	single nucleotide variant	NM_001205293.3(CACNA1E):c.498C>T (p.Ile166=)	CACNA1E-related disorder [RCV004750706]\|not provided [RCV002153989]	likely benign	1	181511496	181511496	Human	1	name , alternate_id
152122863	CV1602989	single nucleotide variant	NM_001205293.3(CACNA1E):c.600C>G (p.Leu200=)	not provided [RCV002198293]	likely benign	1	181577853	181577853	Human		name
152033750	CV1610441	single nucleotide variant	NM_001205293.3(CACNA1E):c.969A>G (p.Gly323=)	CACNA1E-related disorder [RCV003923668]\|not provided [RCV002124987]	benign\|likely benign	1	181651355	181651355	Human	1	name , alternate_id
152170124	CV1610802	single nucleotide variant	NM_001205293.3(CACNA1E):c.903T>G (p.Thr301=)	not provided [RCV002143018]	likely benign	1	181580728	181580728	Human		name
152166520	CV1621083	single nucleotide variant	NM_001205293.3(CACNA1E):c.354C>A (p.Thr118=)	not provided [RCV002181952]	likely benign	1	181510564	181510564	Human		name
152164692	CV1625502	single nucleotide variant	NM_001205293.3(CACNA1E):c.28G>T (p.Ala10Ser)	not provided [RCV002160299]	benign	1	181483772	181483772	Human		name
152169045	CV1626485	single nucleotide variant	NM_001205293.3(CACNA1E):c.921C>T (p.Thr307=)	not provided [RCV002182657]	likely benign	1	181580746	181580746	Human		name
152026205	CV1639332	single nucleotide variant	NM_001205293.3(CACNA1E):c.627T>A (p.Ile209=)	not provided [RCV002185074]	likely benign	1	181579082	181579082	Human		name
152104552	CV1658659	single nucleotide variant	NM_001205293.3(CACNA1E):c.981T>C (p.Asn327=)	not provided [RCV002152224]	likely benign	1	181651367	181651367	Human		name
152066693	CV1662424	single nucleotide variant	NM_001205293.3(CACNA1E):c.693C>T (p.Ala231=)	not provided [RCV002091015]	likely benign	1	181579148	181579148	Human		name
152079458	CV1666779	single nucleotide variant	NM_001205293.3(CACNA1E):c.849C>T (p.Ile283=)	not provided [RCV002211124]	likely benign	1	181580674	181580674	Human		name
155642012	CV1707211	single nucleotide variant	NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu)	Inborn genetic diseases [RCV003355846]\|not provided [RCV002288141]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	181483794	181483794	Human	1	name
155682001	CV1776755	single nucleotide variant	NM_001205293.3(CACNA1E):c.53A>G (p.Asp18Gly)	not provided [RCV002298291]	uncertain significance	1	181483797	181483797	Human		name
155749876	CV1779240	single nucleotide variant	NM_001205293.3(CACNA1E):c.88G>T (p.Val30Leu)	not provided [RCV002305114]	uncertain significance	1	181483832	181483832	Human		name
156216116	CV1931154	single nucleotide variant	NM_001205293.3(CACNA1E):c.597G>A (p.Lys199=)	not provided [RCV002644205]	likely benign	1	181577850	181577850	Human		name
156378135	CV1953618	single nucleotide variant	NM_001205293.3(CACNA1E):c.909C>T (p.Phe303=)	not provided [RCV002582969]	likely benign	1	181580734	181580734	Human		name
156223401	CV1962189	deletion	NM_001205293.3(CACNA1E):c.1525+15_1525+27del	not provided [RCV002596543]	likely benign	1	181717308	181717320	Human		name
156233383	CV1965813	single nucleotide variant	NM_001205293.3(CACNA1E):c.441G>T (p.Gly147=)	not provided [RCV002596888]	likely benign	1	181511439	181511439	Human		name
155981327	CV1972440	single nucleotide variant	NM_001205293.3(CACNA1E):c.348C>T (p.Asp116=)	not provided [RCV002617615]	likely benign	1	181510558	181510558	Human		name
156396004	CV1980456	deletion	NM_001205293.3(CACNA1E):c.5365-20_5365-19del	not provided [RCV002605134]	likely benign	1	181783658	181783659	Human		name
156353001	CV1994650	single nucleotide variant	NM_001205293.3(CACNA1E):c.322C>T (p.Leu108=)	not provided [RCV002675725]	likely benign	1	181510532	181510532	Human		name
156361502	CV2003216	single nucleotide variant	NM_001205293.3(CACNA1E):c.975C>G (p.Thr325=)	not provided [RCV002676276]	likely benign	1	181651361	181651361	Human		name
155935066	CV2023832	single nucleotide variant	NM_001205293.3(CACNA1E):c.450C>T (p.Phe150=)	not provided [RCV002774811]	likely benign	1	181511448	181511448	Human		name
156029748	CV2052180	single nucleotide variant	NM_001205293.3(CACNA1E):c.459C>T (p.Gly153=)	not provided [RCV002821012]	likely benign	1	181511457	181511457	Human		name
156057555	CV2064952	single nucleotide variant	NM_001205293.3(CACNA1E):c.631T>C (p.Leu211=)	not provided [RCV002846650]	likely benign	1	181579086	181579086	Human		name
156229818	CV2074873	single nucleotide variant	NM_001205293.3(CACNA1E):c.519G>A (p.Leu173=)	not provided [RCV002830007]	likely benign	1	181577772	181577772	Human		name
155973666	CV2088572	single nucleotide variant	NM_001205293.3(CACNA1E):c.306C>T (p.Asn102=)	not provided [RCV002863435]	likely benign	1	181510516	181510516	Human		name
156377280	CV2124274	single nucleotide variant	NM_001205293.3(CACNA1E):c.996C>A (p.Ile332=)	not provided [RCV002942839]	likely benign	1	181651382	181651382	Human		name
156026680	CV2129023	deletion	NM_001205293.3(CACNA1E):c.3719+12_3719+16del	not provided [RCV002949039]	likely benign	1	181739263	181739267	Human		name
156139416	CV2129382	deletion	NM_001205293.3(CACNA1E):c.1171+11_1171+28del	not provided [RCV002954171]	uncertain significance	1	181711076	181711093	Human		name
156205411	CV2131208	deletion	NM_001205293.3(CACNA1E):c.5578+12_5578+18del	not provided [RCV002985378]	likely benign	1	181784780	181784786	Human		name
156143281	CV2163934	single nucleotide variant	NM_001205293.3(CACNA1E):c.735C>A (p.Gly245=)	not provided [RCV003022598]	likely benign	1	181579190	181579190	Human		name
156379825	CV2178964	single nucleotide variant	NM_001205293.3(CACNA1E):c.609G>A (p.Gly203=)	not provided [RCV003050401]	likely benign	1	181577862	181577862	Human		name
156347494	CV2191339	single nucleotide variant	NM_001205293.3(CACNA1E):c.636G>A (p.Lys212=)	not provided [RCV003048090]	likely benign	1	181579091	181579091	Human		name
405193225	CV2872268	single nucleotide variant	NM_001205293.3(CACNA1E):c.906C>A (p.Val302=)	not provided [RCV003550601]	likely benign	1	181580731	181580731	Human		name
405212741	CV2878726	deletion	NM_001205293.3(CACNA1E):c.4973+19_4973+20del	not provided [RCV003552805]	likely benign	1	181771402	181771403	Human		name
405240677	CV2889305	single nucleotide variant	NM_001205293.3(CACNA1E):c.60C>A (p.Asp20Glu)	not provided [RCV003557343]	uncertain significance	1	181483804	181483804	Human		name
405215529	CV2911185	single nucleotide variant	NM_001205293.3(CACNA1E):c.582C>A (p.Val194=)	not provided [RCV003567732]	likely benign	1	181577835	181577835	Human		name
405010476	CV2933572	deletion	NM_001205293.3(CACNA1E):c.6028-22_6028-19del	not provided [RCV003576690]	likely benign	1	181794841	181794844	Human		name
405088782	CV2943459	single nucleotide variant	NM_001205293.3(CACNA1E):c.435C>T (p.Ala145=)	not provided [RCV003665141]	likely benign	1	181511433	181511433	Human		name
405138287	CV2954544	single nucleotide variant	NM_001205293.3(CACNA1E):c.98C>T (p.Ser33Leu)	not provided [RCV003673006]	likely benign	1	181483842	181483842	Human		name
402493452	CV2982030	single nucleotide variant	NM_001205293.3(CACNA1E):c.852C>A (p.Gly284=)	not provided [RCV003714004]	likely benign	1	181580677	181580677	Human		name
405212100	CV3063157	single nucleotide variant	NM_001205293.3(CACNA1E):c.336T>G (p.Leu112=)	not provided [RCV003732155]	likely benign	1	181510546	181510546	Human		name
405029304	CV3129894	single nucleotide variant	NM_001205293.3(CACNA1E):c.83C>T (p.Thr28Ile)	not provided [RCV003830492]	uncertain significance	1	181483827	181483827	Human		name
405182769	CV3159661	deletion	NM_001205293.3(CACNA1E):c.3731+10_3731+13del	not provided [RCV003858912]	likely benign	1	181750496	181750499	Human		name
405161589	CV3160034	deletion	NM_001205293.3(CACNA1E):c.4495-22_4495-19del	not provided [RCV003857105]	likely benign	1	181758736	181758739	Human		name
405255048	CV3175699	single nucleotide variant	NM_001205293.3(CACNA1E):c.630G>A (p.Val210=)	not provided [RCV003871967]	likely benign	1	181579085	181579085	Human		name
408383042	CV3504609	single nucleotide variant	NM_001205293.3(CACNA1E):c.999C>A (p.Pro333=)	CACNA1E-related disorder [RCV004730370]	likely benign	1	181651385	181651385	Human		name , trait , alternate_id
408377452	CV3507476	single nucleotide variant	NM_001205293.3(CACNA1E):c.993C>T (p.Phe331=)	CACNA1E-related disorder [RCV004750989]	likely benign	1	181651379	181651379	Human		name , trait , alternate_id
408377541	CV3508939	single nucleotide variant	NM_001205293.3(CACNA1E):c.985C>T (p.Leu329=)	CACNA1E-related disorder [RCV004751066]	likely benign	1	181651371	181651371	Human		name , trait , alternate_id
408378887	CV3517444	single nucleotide variant	NM_001205293.3(CACNA1E):c.996C>T (p.Ile332=)	CACNA1E-related disorder [RCV004752489]	likely benign	1	181651382	181651382	Human		name , trait , alternate_id
597857633	CV3748182	single nucleotide variant	NM_001205293.3(CACNA1E):c.615T>C (p.Pro205=)	not provided [RCV005067004]	uncertain significance	1	181577868	181577868	Human		name
597954962	CV3754076	deletion	NM_001205293.3(CACNA1E):c.5680-24_5680-15del	not provided [RCV005080119]	likely benign	1	181785685	181785694	Human		name
597939228	CV3775300	duplication	NM_001205293.3(CACNA1E):c.3731+17_3731+20dup	not provided [RCV005118126]	likely benign	1	181750502	181750503	Human		name
597922532	CV3781803	single nucleotide variant	NM_001205293.3(CACNA1E):c.816C>T (p.Gly272=)	not provided [RCV005130475]	likely benign	1	181580641	181580641	Human		name
597910134	CV3782085	single nucleotide variant	NM_001205293.3(CACNA1E):c.594G>A (p.Leu198=)	not provided [RCV005128577]	likely benign	1	181577847	181577847	Human		name
597950094	CV3797799	single nucleotide variant	NM_001205293.3(CACNA1E):c.564C>A (p.Thr188=)	not provided [RCV005135793]	likely benign	1	181577817	181577817	Human		name
597970414	CV3832471	single nucleotide variant	NM_001205293.3(CACNA1E):c.885C>T (p.Ile295=)	not provided [RCV005166550]	likely benign	1	181580710	181580710	Human		name
597919721	CV3851913	single nucleotide variant	NM_001205293.3(CACNA1E):c.798C>T (p.His266=)	not provided [RCV005204893]	likely benign	1	181580623	181580623	Human		name
616939623	CV4014120	single nucleotide variant	NM_001205293.3(CACNA1E):c.999C>G (p.Pro333=)	not provided [RCV005413612]	likely benign	1	181651385	181651385	Human		name
127308060	CV1153368	single nucleotide variant	NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=)	Developmental and epileptic encephalopathy, 69 [RCV003458716]\|not provided [RCV001517346]	benign\|likely benign	1	181651409	181651409	Human	1	name
127300303	CV1153369	single nucleotide variant	NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=)	Developmental and epileptic encephalopathy, 69 [RCV003458711]\|not provided [RCV001514114]	benign\|likely benign	1	181711017	181711017	Human	1	name
127322395	CV1153370	single nucleotide variant	NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=)	Developmental and epileptic encephalopathy, 69 [RCV002501852]\|not provided [RCV001523513]	benign\|likely benign	1	181716122	181716122	Human	1	name
150336694	CV1165478	single nucleotide variant	NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=)	CACNA1E-related disorder [RCV004752005]\|Developmental and epileptic encephalopathy, 69 [RCV003458721]\|not provided [RCV001532085]	benign\|likely benign	1	181715381	181715381	Human	1	name , alternate_id
150513869	CV1227941	single nucleotide variant	NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=)	Developmental and epileptic encephalopathy, 69 [RCV003458733]\|not provided [RCV001638219]	benign\|likely benign	1	181733455	181733455	Human	1	name
150454755	CV1232331	single nucleotide variant	NM_001205293.3(CACNA1E):c.1053C>A (p.Ser351=)	Developmental and epileptic encephalopathy, 69 [RCV003458740]\|not provided [RCV001648344]	benign\|likely benign	1	181651439	181651439	Human	1	name
150467200	CV1240841	single nucleotide variant	NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=)	Developmental and epileptic encephalopathy, 69 [RCV003458743]\|not provided [RCV001650299]	benign\|likely benign	1	181651439	181651439	Human	1	name
150472804	CV1252303	single nucleotide variant	NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=)	Developmental and epileptic encephalopathy, 69 [RCV003458746]\|not provided [RCV001671505]	benign\|likely benign	1	181732414	181732414	Human	1	name
150474750	CV1263405	single nucleotide variant	NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=)	CACNA1E-related disorder [RCV003948670]\|Developmental and epileptic encephalopathy, 69 [RCV003458747]\|not provided [RCV001684928]	benign\|likely benign	1	181724519	181724519	Human	1	name , alternate_id
150551379	CV1297333	single nucleotide variant	NM_001205293.3(CACNA1E):c.265C>T (p.Pro89Ser)	not provided [RCV001767015]	conflicting interpretations of pathogenicity\|uncertain significance	1	181484009	181484009	Human		name
150554738	CV1304468	single nucleotide variant	NM_001205293.3(CACNA1E):c.101G>C (p.Gly34Ala)	not provided [RCV001771438]	uncertain significance	1	181483845	181483845	Human		name
151234540	CV1320308	single nucleotide variant	NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=)	Developmental and epileptic encephalopathy, 69 [RCV002489848]\|not provided [RCV001799932]	benign\|likely benign	1	181732384	181732384	Human	1	name
151352752	CV1325975	single nucleotide variant	NM_001205293.3(CACNA1E):c.1113G>A (p.Arg371=)	CACNA1E-related disorder [RCV003976210]\|Developmental and epileptic encephalopathy, 69 [RCV003458773]\|not provided [RCV001815686]	likely benign	1	181711011	181711011	Human	1	name , alternate_id
151766988	CV1341365	single nucleotide variant	NM_001205293.3(CACNA1E):c.180G>T (p.Gln60His)	not provided [RCV001874069]	uncertain significance	1	181483924	181483924	Human		name
151767291	CV1348705	single nucleotide variant	NM_001205293.3(CACNA1E):c.218G>A (p.Gly73Glu)	Developmental and epileptic encephalopathy, 69 [RCV003458784]\|not provided [RCV001895988]	uncertain significance	1	181483962	181483962	Human	1	name
151806358	CV1359644	single nucleotide variant	NM_001205293.3(CACNA1E):c.232G>C (p.Val78Leu)	not provided [RCV002028559]	uncertain significance	1	181483976	181483976	Human		name
151848199	CV1362042	single nucleotide variant	NM_001205293.3(CACNA1E):c.166A>G (p.Ile56Val)	not provided [RCV001937000]	uncertain significance	1	181483910	181483910	Human		name
151873934	CV1382291	single nucleotide variant	NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His)	Developmental and epileptic encephalopathy, 69 [RCV003146467]\|Inborn genetic diseases [RCV002625402]\|not provided [RCV002019301]	benign\|likely benign\|uncertain significance	1	181483985	181483985	Human	2	name
151878496	CV1395376	single nucleotide variant	NM_001205293.3(CACNA1E):c.2238C>A (p.Ile746=)	not provided [RCV001999233]	benign\|uncertain significance	1	181726160	181726160	Human		name
151728209	CV1409980	single nucleotide variant	NM_001205293.3(CACNA1E):c.208T>C (p.Phe70Leu)	not provided [RCV001910600]	uncertain significance	1	181483952	181483952	Human		name
151764000	CV1434073	single nucleotide variant	NM_001205293.3(CACNA1E):c.122A>C (p.Gln41Pro)	not provided [RCV002024698]	uncertain significance	1	181483866	181483866	Human		name
151850682	CV1464977	single nucleotide variant	NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln)	Developmental and epileptic encephalopathy, 69 [RCV003458813]\|not provided [RCV001995919]	conflicting interpretations of pathogenicity\|uncertain significance	1	181483920	181483920	Human	1	name
151887162	CV1471905	single nucleotide variant	NM_001205293.3(CACNA1E):c.113C>T (p.Ala38Val)	not provided [RCV002000828]	likely benign\|uncertain significance	1	181483857	181483857	Human		name
151853740	CV1500958	single nucleotide variant	NM_001205293.3(CACNA1E):c.2727G>A (p.Glu909=)	not provided [RCV001958336]	likely benign\|uncertain significance	1	181732813	181732813	Human		name
152044656	CV1525608	single nucleotide variant	NM_001205293.3(CACNA1E):c.2775C>T (p.Arg925=)	not provided [RCV002126517]	likely benign	1	181732861	181732861	Human		name
152065227	CV1525937	single nucleotide variant	NM_001205293.3(CACNA1E):c.2421G>A (p.Pro807=)	Developmental and epileptic encephalopathy, 69 [RCV003458841]\|not provided [RCV002128879]	likely benign	1	181732507	181732507	Human	1	name
152082296	CV1526166	single nucleotide variant	NM_001205293.3(CACNA1E):c.1215C>T (p.Ser405=)	CACNA1E-related disorder [RCV003923480]\|not provided [RCV002170695]	likely benign	1	181715381	181715381	Human	1	name , alternate_id
152037776	CV1529658	single nucleotide variant	NM_001205293.3(CACNA1E):c.2781G>A (p.Arg927=)	not provided [RCV002187791]	likely benign	1	181732867	181732867	Human		name
152151689	CV1530513	single nucleotide variant	NM_001205293.3(CACNA1E):c.2764C>A (p.Arg922=)	not provided [RCV002102324]	likely benign	1	181732850	181732850	Human		name
152152678	CV1533338	single nucleotide variant	NM_001205293.3(CACNA1E):c.2682G>A (p.Pro894=)	not provided [RCV002102470]	likely benign	1	181732768	181732768	Human		name
152069815	CV1535495	single nucleotide variant	NM_001205293.3(CACNA1E):c.1842C>T (p.Ile614=)	not provided [RCV002091432]	likely benign	1	181720296	181720296	Human		name
152063366	CV1542358	single nucleotide variant	NM_001205293.3(CACNA1E):c.1584T>C (p.Tyr528=)	not provided [RCV002208975]	likely benign	1	181718113	181718113	Human		name
152164430	CV1543510	single nucleotide variant	NM_001205293.3(CACNA1E):c.2535C>T (p.Phe845=)	not provided [RCV002123798]	likely benign	1	181732621	181732621	Human		name
152092588	CV1545099	single nucleotide variant	NM_001205293.3(CACNA1E):c.2574G>A (p.Gly858=)	not provided [RCV002172026]	likely benign	1	181732660	181732660	Human		name
152139357	CV1549675	single nucleotide variant	NM_001205293.3(CACNA1E):c.1446G>A (p.Val482=)	not provided [RCV002156559]	likely benign	1	181717223	181717223	Human		name
152061290	CV1559315	single nucleotide variant	NM_001205293.3(CACNA1E):c.2709G>A (p.Glu903=)	not provided [RCV002168031]	likely benign	1	181732795	181732795	Human		name
152045617	CV1561279	single nucleotide variant	NM_001205293.3(CACNA1E):c.2409G>A (p.Pro803=)	not provided [RCV002108308]	likely benign	1	181732495	181732495	Human		name
152121599	CV1562531	single nucleotide variant	NM_001205293.3(CACNA1E):c.1089C>T (p.Asn363=)	not provided [RCV002098231]	likely benign	1	181710987	181710987	Human		name
152090528	CV1563289	single nucleotide variant	NM_001205293.3(CACNA1E):c.2016G>A (p.Gly672=)	not provided [RCV002114016]	likely benign	1	181721817	181721817	Human		name
152076813	CV1565569	single nucleotide variant	NM_001205293.3(CACNA1E):c.2004C>T (p.Arg668=)	not provided [RCV002148794]	likely benign	1	181721805	181721805	Human		name
152123332	CV1570570	single nucleotide variant	NM_001205293.3(CACNA1E):c.1065C>T (p.Ala355=)	not provided [RCV002217074]	likely benign	1	181710963	181710963	Human		name
152084313	CV1577015	single nucleotide variant	NM_001205293.3(CACNA1E):c.2202G>A (p.Glu734=)	not provided [RCV002193428]	likely benign	1	181726124	181726124	Human		name
152084756	CV1577103	single nucleotide variant	NM_001205293.3(CACNA1E):c.2472C>T (p.Pro824=)	not provided [RCV002193486]	likely benign	1	181732558	181732558	Human		name
152107565	CV1579487	single nucleotide variant	NM_001205293.3(CACNA1E):c.2211G>A (p.Pro737=)	not provided [RCV002173916]	likely benign	1	181726133	181726133	Human		name
152078671	CV1579727	single nucleotide variant	NM_001205293.3(CACNA1E):c.1560C>T (p.Leu520=)	not provided [RCV002076076]	likely benign	1	181718089	181718089	Human		name
152076507	CV1581475	single nucleotide variant	NM_001205293.3(CACNA1E):c.2859C>T (p.Pro953=)	not provided [RCV002112176]	benign	1	181732945	181732945	Human		name
152129037	CV1583835	single nucleotide variant	NM_001205293.3(CACNA1E):c.2955C>T (p.Asn985=)	not provided [RCV002199075]	likely benign	1	181733443	181733443	Human		name
152044755	CV1588647	single nucleotide variant	NM_001205293.3(CACNA1E):c.2139C>A (p.Thr713=)	not provided [RCV002188702]	likely benign	1	181724534	181724534	Human		name
152119303	CV1589191	single nucleotide variant	NM_001205293.3(CACNA1E):c.2013T>C (p.Gly671=)	not provided [RCV002216562]	likely benign	1	181721814	181721814	Human		name
152138192	CV1591975	single nucleotide variant	NM_001205293.3(CACNA1E):c.2238C>T (p.Ile746=)	not provided [RCV002100400]	benign	1	181726160	181726160	Human		name
152120359	CV1593799	single nucleotide variant	NM_001205293.3(CACNA1E):c.2757G>A (p.Arg919=)	not provided [RCV002098062]	likely benign	1	181732843	181732843	Human		name
152122936	CV1594081	single nucleotide variant	NM_001205293.3(CACNA1E):c.1491T>C (p.His497=)	not provided [RCV002175819]	likely benign	1	181717268	181717268	Human		name
152090822	CV1594170	single nucleotide variant	NM_001205293.3(CACNA1E):c.2766G>T (p.Arg922=)	not provided [RCV002171799]	likely benign	1	181732852	181732852	Human		name
152171733	CV1597753	single nucleotide variant	NM_001205293.3(CACNA1E):c.1668C>G (p.Val556=)	not provided [RCV002162216]	likely benign	1	181719780	181719780	Human		name
152097739	CV1600013	single nucleotide variant	NM_001205293.3(CACNA1E):c.2979C>T (p.Ser993=)	not provided [RCV002151413]	likely benign	1	181733467	181733467	Human		name
152163717	CV1604902	single nucleotide variant	NM_001205293.3(CACNA1E):c.1692G>A (p.Thr564=)	not provided [RCV002203886]	likely benign	1	181719804	181719804	Human		name
152037135	CV1605530	single nucleotide variant	NM_001205293.3(CACNA1E):c.2235G>T (p.Ser745=)	not provided [RCV002087406]	likely benign	1	181726157	181726157	Human		name
152137076	CV1608884	single nucleotide variant	NM_001205293.3(CACNA1E):c.2406G>A (p.Ala802=)	not provided [RCV002119848]	likely benign	1	181732492	181732492	Human		name
152144783	CV1609198	single nucleotide variant	NM_001205293.3(CACNA1E):c.2787A>G (p.Glu929=)	not provided [RCV002157263]	likely benign	1	181732873	181732873	Human		name
152097511	CV1611551	single nucleotide variant	NM_001205293.3(CACNA1E):c.2439G>A (p.Pro813=)	not provided [RCV002172661]	likely benign	1	181732525	181732525	Human		name
152098454	CV1611725	single nucleotide variant	NM_001205293.3(CACNA1E):c.2598C>T (p.Ala866=)	not provided [RCV002172782]	likely benign	1	181732684	181732684	Human		name
152081937	CV1612338	single nucleotide variant	NM_001205293.3(CACNA1E):c.1371T>C (p.Tyr457=)	CACNA1E-related disorder [RCV003971075]\|not provided [RCV002130931]	likely benign	1	181717148	181717148	Human	1	name , alternate_id
152045204	CV1614130	single nucleotide variant	NM_001205293.3(CACNA1E):c.1755T>C (p.Tyr585=)	not provided [RCV002166198]	likely benign	1	181720209	181720209	Human		name
152103650	CV1624498	single nucleotide variant	NM_001205293.3(CACNA1E):c.1347T>C (p.Ser449=)	not provided [RCV002173427]	likely benign	1	181717124	181717124	Human		name
152103480	CV1625385	single nucleotide variant	NM_001205293.3(CACNA1E):c.2469C>T (p.His823=)	not provided [RCV002152090]	likely benign	1	181732555	181732555	Human		name
152089900	CV1634084	single nucleotide variant	NM_001205293.3(CACNA1E):c.2103C>T (p.Ile701=)	not provided [RCV002194161]	likely benign	1	181724498	181724498	Human		name
152131152	CV1635357	single nucleotide variant	NM_001205293.3(CACNA1E):c.2235G>A (p.Ser745=)	not provided [RCV002099503]	likely benign	1	181726157	181726157	Human		name
152036133	CV1636237	single nucleotide variant	NM_001205293.3(CACNA1E):c.1767A>G (p.Leu589=)	not provided [RCV002107011]	likely benign	1	181720221	181720221	Human		name
152127056	CV1642011	single nucleotide variant	NM_001205293.3(CACNA1E):c.167T>C (p.Ile56Thr)	not provided [RCV002176308]	likely benign	1	181483911	181483911	Human		name
152135674	CV1642438	single nucleotide variant	NM_001205293.3(CACNA1E):c.1083G>A (p.Val361=)	not provided [RCV002119671]	likely benign	1	181710981	181710981	Human		name
152168118	CV1642984	single nucleotide variant	NM_001205293.3(CACNA1E):c.1614T>G (p.Ser538=)	not provided [RCV002204889]	likely benign	1	181718143	181718143	Human		name
152175380	CV1663500	single nucleotide variant	NM_001205293.3(CACNA1E):c.1038C>A (p.Val346=)	not provided [RCV002163512]	likely benign	1	181651424	181651424	Human		name
152034600	CV1666117	single nucleotide variant	NM_001205293.3(CACNA1E):c.1986G>A (p.Val662=)	not provided [RCV002106774]	likely benign	1	181721787	181721787	Human		name
152078813	CV1666655	single nucleotide variant	NM_001205293.3(CACNA1E):c.2670A>C (p.Gly890=)	Developmental and epileptic encephalopathy, 69 [RCV003458848]\|not provided [RCV002211000]	likely benign	1	181732756	181732756	Human	1	name
152035413	CV1670142	single nucleotide variant	NM_001205293.3(CACNA1E):c.156G>C (p.Leu52Phe)	Developmental and epileptic encephalopathy, 69 [RCV003458849]\|not provided [RCV002223676]	uncertain significance	1	181483900	181483900	Human	1	name
155266219	CV1699660	single nucleotide variant	NM_001205293.3(CACNA1E):c.1224A>G (p.Glu408=)	not specified [RCV002281760]	uncertain significance	1	181715390	181715390	Human		name
155690574	CV1775160	single nucleotide variant	NM_001205293.3(CACNA1E):c.196A>T (p.Asn66Tyr)	not provided [RCV002294866]	uncertain significance	1	181483940	181483940	Human		name
155749067	CV1777498	single nucleotide variant	NM_001205293.3(CACNA1E):c.216C>G (p.Phe72Leu)	not provided [RCV002304262]	uncertain significance	1	181483960	181483960	Human		name
156104588	CV1917128	single nucleotide variant	NM_001205293.3(CACNA1E):c.2016G>T (p.Gly672=)	not provided [RCV002592401]	likely benign	1	181721817	181721817	Human		name
156375862	CV1917589	single nucleotide variant	NM_001205293.3(CACNA1E):c.1185C>T (p.Leu395=)	not provided [RCV002603575]	likely benign	1	181715351	181715351	Human		name
156380640	CV1927521	single nucleotide variant	NM_001205293.3(CACNA1E):c.1323T>C (p.Pro441=)	not provided [RCV002634240]	likely benign	1	181717100	181717100	Human		name
156446334	CV1951371	single nucleotide variant	NM_001205293.3(CACNA1E):c.2868G>C (p.Gly956=)	not provided [RCV003117306]	likely benign	1	181732954	181732954	Human		name
156417673	CV1967108	single nucleotide variant	NM_001205293.3(CACNA1E):c.2427C>T (p.Asn809=)	not provided [RCV002590310]	likely benign	1	181732513	181732513	Human		name
156313037	CV1969907	single nucleotide variant	NM_001205293.3(CACNA1E):c.1983G>A (p.Glu661=)	not provided [RCV002578800]	likely benign	1	181721784	181721784	Human		name
156265733	CV1973859	single nucleotide variant	NM_001205293.3(CACNA1E):c.2916G>A (p.Thr972=)	not provided [RCV002597928]	likely benign	1	181733002	181733002	Human		name
156131287	CV1977050	single nucleotide variant	NM_001205293.3(CACNA1E):c.280A>G (p.Met94Val)	not provided [RCV002593504]	likely benign\|uncertain significance	1	181510490	181510490	Human		name
156059798	CV1978914	single nucleotide variant	NM_001205293.3(CACNA1E):c.1593G>A (p.Gly531=)	not provided [RCV002590937]	likely benign	1	181718122	181718122	Human		name
155916200	CV1980877	single nucleotide variant	NM_001205293.3(CACNA1E):c.2157A>G (p.Glu719=)	not provided [RCV002614325]	likely benign	1	181726079	181726079	Human		name
156215158	CV1983675	single nucleotide variant	NM_001205293.3(CACNA1E):c.158A>T (p.Tyr53Phe)	not provided [RCV002626233]	uncertain significance	1	181483902	181483902	Human		name
156392646	CV1986428	single nucleotide variant	NM_001205293.3(CACNA1E):c.2457G>A (p.Pro819=)	not provided [RCV002604812]	likely benign	1	181732543	181732543	Human		name
156346044	CV1995226	single nucleotide variant	NM_001205293.3(CACNA1E):c.2607C>T (p.Asn869=)	not provided [RCV002650579]	likely benign	1	181732693	181732693	Human		name
156131438	CV1998454	single nucleotide variant	NM_001205293.3(CACNA1E):c.1959C>T (p.Ile653=)	not provided [RCV002663235]	likely benign	1	181721760	181721760	Human		name
156260087	CV2000455	single nucleotide variant	NM_001205293.3(CACNA1E):c.2064G>A (p.Leu688=)	not provided [RCV002627736]	likely benign	1	181721865	181721865	Human		name
156112009	CV2008686	single nucleotide variant	NM_001205293.3(CACNA1E):c.2412C>T (p.Thr804=)	not provided [RCV002695707]	likely benign	1	181732498	181732498	Human		name
156369225	CV2021182	single nucleotide variant	NM_001205293.3(CACNA1E):c.1857C>T (p.Leu619=)	not provided [RCV002721400]	likely benign	1	181720311	181720311	Human		name
156148592	CV2037508	single nucleotide variant	NM_001205293.3(CACNA1E):c.1926C>T (p.Thr642=)	not provided [RCV002786775]	likely benign	1	181720825	181720825	Human		name
156029154	CV2059001	single nucleotide variant	NM_001205293.3(CACNA1E):c.2187G>A (p.Leu729=)	not provided [RCV002795975]	likely benign	1	181726109	181726109	Human		name
156381137	CV2060813	single nucleotide variant	NM_001205293.3(CACNA1E):c.1138C>T (p.Leu380=)	not provided [RCV002815094]	uncertain significance	1	181711036	181711036	Human		name
155996090	CV2064038	single nucleotide variant	NM_001205293.3(CACNA1E):c.187T>C (p.Phe63Leu)	not provided [RCV002843188]	likely benign	1	181483931	181483931	Human		name
155975831	CV2085087	single nucleotide variant	NM_001205293.3(CACNA1E):c.2508G>A (p.Leu836=)	not provided [RCV002863526]	likely benign	1	181732594	181732594	Human		name
156123405	CV2089860	single nucleotide variant	NM_001205293.3(CACNA1E):c.2307G>T (p.Arg769=)	not provided [RCV002889654]	likely benign	1	181732393	181732393	Human		name
156238228	CV2090299	single nucleotide variant	NM_001205293.3(CACNA1E):c.1797A>G (p.Ser599=)	not provided [RCV002894815]	likely benign	1	181720251	181720251	Human		name
155979283	CV2093935	single nucleotide variant	NM_001205293.3(CACNA1E):c.2646A>G (p.Pro882=)	not provided [RCV002881851]	likely benign	1	181732732	181732732	Human		name
156124463	CV2112264	single nucleotide variant	NM_001205293.3(CACNA1E):c.2574G>C (p.Gly858=)	not provided [RCV002927951]	benign	1	181732660	181732660	Human		name
156145900	CV2118115	single nucleotide variant	NM_001205293.3(CACNA1E):c.2328C>G (p.Ser776=)	not provided [RCV002928732]	likely benign	1	181732414	181732414	Human		name
156387406	CV2122104	single nucleotide variant	NM_001205293.3(CACNA1E):c.229A>G (p.Ile77Val)	not provided [RCV002943591]	uncertain significance	1	181483973	181483973	Human		name
155937591	CV2125821	single nucleotide variant	NM_001205293.3(CACNA1E):c.2331G>T (p.Val777=)	not provided [RCV002971060]	likely benign	1	181732417	181732417	Human		name
156219344	CV2132776	single nucleotide variant	NM_001205293.3(CACNA1E):c.170C>T (p.Pro57Leu)	not provided [RCV003007315]	benign	1	181483914	181483914	Human		name
155959876	CV2138270	single nucleotide variant	NM_001205293.3(CACNA1E):c.2424C>T (p.Leu808=)	not provided [RCV002972331]	likely benign	1	181732510	181732510	Human		name
156124111	CV2147387	single nucleotide variant	NM_001205293.3(CACNA1E):c.220G>A (p.Glu74Lys)	not provided [RCV003021914]	uncertain significance	1	181483964	181483964	Human		name
155972494	CV2148728	single nucleotide variant	NM_001205293.3(CACNA1E):c.2754A>G (p.Gln918=)	not provided [RCV003016002]	likely benign	1	181732840	181732840	Human		name
156305475	CV2157268	single nucleotide variant	NM_001205293.3(CACNA1E):c.188T>G (p.Phe63Cys)	not provided [RCV003028300]	uncertain significance	1	181483932	181483932	Human		name
155939783	CV2157889	single nucleotide variant	NM_001205293.3(CACNA1E):c.143G>A (p.Arg48Gln)	not provided [RCV003014187]	benign\|uncertain significance	1	181483887	181483887	Human		name
156200270	CV2169784	single nucleotide variant	NM_001205293.3(CACNA1E):c.1374C>T (p.Phe458=)	not provided [RCV003041944]	likely benign	1	181717151	181717151	Human		name
156327866	CV2170590	single nucleotide variant	NM_001205293.3(CACNA1E):c.2631C>A (p.Gly877=)	not provided [RCV003029594]	likely benign	1	181732717	181732717	Human		name
155959077	CV2172962	single nucleotide variant	NM_001205293.3(CACNA1E):c.2544G>A (p.Glu848=)	not provided [RCV003032850]	likely benign	1	181732630	181732630	Human		name
156330248	CV2180933	single nucleotide variant	NM_001205293.3(CACNA1E):c.2829C>T (p.Ser943=)	not provided [RCV003047166]	likely benign	1	181732915	181732915	Human		name
156356463	CV2188896	single nucleotide variant	NM_001205293.3(CACNA1E):c.2934C>T (p.Ala978=)	not provided [RCV003048722]	likely benign	1	181733020	181733020	Human		name
243065042	CV2409640	single nucleotide variant	NM_001205293.3(CACNA1E):c.231T>G (p.Ile77Met)	Developmental and epileptic encephalopathy, 69 [RCV003143912]\|not provided [RCV003561187]	uncertain significance	1	181483975	181483975	Human	1	name
329952445	CV2671775	single nucleotide variant	NM_001205293.3(CACNA1E):c.164C>G (p.Pro55Arg)	not provided [RCV003237172]	uncertain significance	1	181483908	181483908	Human		name
401724301	CV2735700	single nucleotide variant	NM_001205293.3(CACNA1E):c.2460C>T (p.Leu820=)	not provided [RCV003312143]	conflicting interpretations of pathogenicity\|uncertain significance	1	181732546	181732546	Human		name
401723690	CV2737869	single nucleotide variant	NM_001205293.3(CACNA1E):c.148A>G (p.Met50Val)	not provided [RCV003315041]	uncertain significance	1	181483892	181483892	Human		name
401863468	CV2776927	single nucleotide variant	NM_001205293.3(CACNA1E):c.278A>G (p.Tyr93Cys)	Inborn genetic diseases [RCV003378612]	uncertain significance	1	181510488	181510488	Human	1	name
401906305	CV2806217	single nucleotide variant	NM_001205293.3(CACNA1E):c.1714C>A (p.Arg572=)	not provided [RCV003421251]	likely benign	1	181719826	181719826	Human		name
401915029	CV2830935	single nucleotide variant	NM_001205293.3(CACNA1E):c.264G>T (p.Trp88Cys)	not provided [RCV003442674]	uncertain significance	1	181484008	181484008	Human		name
401942892	CV2839892	single nucleotide variant	NM_001205293.3(CACNA1E):c.1650C>A (p.Gly550=)	not provided [RCV003456679]	likely benign	1	181719762	181719762	Human		name
405112946	CV2900640	single nucleotide variant	NM_001205293.3(CACNA1E):c.1311T>C (p.Ser437=)	not provided [RCV003558138]	likely benign	1	181716125	181716125	Human		name
405198903	CV2901097	single nucleotide variant	NM_001205293.3(CACNA1E):c.1254C>T (p.Ser418=)	not provided [RCV003565719]	likely benign	1	181716068	181716068	Human		name
405060983	CV2926285	single nucleotide variant	NM_001205293.3(CACNA1E):c.2748G>A (p.Gln916=)	not provided [RCV003580471]	likely benign	1	181732834	181732834	Human		name
402486840	CV2928432	single nucleotide variant	NM_001205293.3(CACNA1E):c.1890C>T (p.Asn630=)	not provided [RCV003572609]	likely benign	1	181720789	181720789	Human		name
402495814	CV2942712	single nucleotide variant	NM_001205293.3(CACNA1E):c.2403G>A (p.Glu801=)	not provided [RCV003661094]	likely benign	1	181732489	181732489	Human		name
405078348	CV2945281	single nucleotide variant	NM_001205293.3(CACNA1E):c.2314C>A (p.Arg772=)	not provided [RCV003664360]	likely benign	1	181732400	181732400	Human		name
405175402	CV2951818	single nucleotide variant	NM_001205293.3(CACNA1E):c.290C>T (p.Ala97Val)	not provided [RCV003675785]	uncertain significance	1	181510500	181510500	Human		name
405182828	CV2952784	single nucleotide variant	NM_001205293.3(CACNA1E):c.104A>G (p.Gln35Arg)	not provided [RCV003676450]	uncertain significance	1	181483848	181483848	Human		name
405120744	CV2957660	single nucleotide variant	NM_001205293.3(CACNA1E):c.1518C>T (p.His506=)	not provided [RCV003667362]	likely benign	1	181717295	181717295	Human		name
405230588	CV2964404	single nucleotide variant	NM_001205293.3(CACNA1E):c.2301G>A (p.Arg767=)	not provided [RCV003682185]	likely benign	1	181732387	181732387	Human		name
405218643	CV2968765	single nucleotide variant	NM_001205293.3(CACNA1E):c.1383G>A (p.Lys461=)	not provided [RCV003680358]	likely benign	1	181717160	181717160	Human		name
405219634	CV2968789	single nucleotide variant	NM_001205293.3(CACNA1E):c.1953C>T (p.Phe651=)	not provided [RCV003680370]	likely benign	1	181720852	181720852	Human		name
405188896	CV2974254	single nucleotide variant	NM_001205293.3(CACNA1E):c.1065C>G (p.Ala355=)	not provided [RCV003677015]	likely benign	1	181710963	181710963	Human		name
405224427	CV2979285	single nucleotide variant	NM_001205293.3(CACNA1E):c.1218C>T (p.Ala406=)	not provided [RCV003681180]	likely benign	1	181715384	181715384	Human		name
405239681	CV2979953	single nucleotide variant	NM_001205293.3(CACNA1E):c.176G>T (p.Arg59Leu)	not provided [RCV003683782]	uncertain significance	1	181483920	181483920	Human		name
405214100	CV2985067	single nucleotide variant	NM_001205293.3(CACNA1E):c.140C>T (p.Ala47Val)	not provided [RCV003709041]	uncertain significance	1	181483884	181483884	Human		name
405207023	CV2994469	single nucleotide variant	NM_001205293.3(CACNA1E):c.2472C>A (p.Pro824=)	not provided [RCV003678867]	likely benign	1	181732558	181732558	Human		name
405004736	CV3016426	single nucleotide variant	NM_001205293.3(CACNA1E):c.196A>G (p.Asn66Asp)	not provided [RCV003693432]	likely benign\|uncertain significance	1	181483940	181483940	Human		name
405116673	CV3020213	single nucleotide variant	NM_001205293.3(CACNA1E):c.2685T>C (p.Thr895=)	not provided [RCV003700314]	likely benign	1	181732771	181732771	Human		name
402502809	CV3032528	single nucleotide variant	NM_001205293.3(CACNA1E):c.1449G>C (p.Leu483=)	not provided [RCV003714918]	likely benign	1	181717226	181717226	Human		name
405136814	CV3048479	single nucleotide variant	NM_001205293.3(CACNA1E):c.1353G>A (p.Lys451=)	not provided [RCV003725305]	likely benign	1	181717130	181717130	Human		name
405019878	CV3129172	single nucleotide variant	NM_001205293.3(CACNA1E):c.197A>G (p.Asn66Ser)	not provided [RCV003829735]	benign\|uncertain significance	1	181483941	181483941	Human		name
405135219	CV3130523	single nucleotide variant	NM_001205293.3(CACNA1E):c.1335C>T (p.Ala445=)	not provided [RCV003838756]	likely benign	1	181717112	181717112	Human		name
405128980	CV3133236	single nucleotide variant	NM_001205293.3(CACNA1E):c.2106T>A (p.Ala702=)	not provided [RCV003838206]	uncertain significance	1	181724501	181724501	Human		name
405138085	CV3144678	single nucleotide variant	NM_001205293.3(CACNA1E):c.1665G>T (p.Val555=)	not provided [RCV003855195]	likely benign	1	181719777	181719777	Human		name
405230911	CV3153956	single nucleotide variant	NM_001205293.3(CACNA1E):c.1482C>T (p.Ala494=)	not provided [RCV003848824]	likely benign	1	181717259	181717259	Human		name
405220427	CV3154310	single nucleotide variant	NM_001205293.3(CACNA1E):c.1359C>T (p.Asp453=)	not provided [RCV003847002]	likely benign	1	181717136	181717136	Human		name
405220135	CV3157720	single nucleotide variant	NM_001205293.3(CACNA1E):c.1179C>T (p.Val393=)	not provided [RCV003863412]	likely benign	1	181715345	181715345	Human		name
405215811	CV3160691	single nucleotide variant	NM_001205293.3(CACNA1E):c.2799C>T (p.Ser933=)	not provided [RCV003862753]	likely benign	1	181732885	181732885	Human		name
405128860	CV3163225	single nucleotide variant	NM_001205293.3(CACNA1E):c.2859C>A (p.Pro953=)	not provided [RCV003854406]	likely benign	1	181732945	181732945	Human		name
405238738	CV3165769	single nucleotide variant	NM_001205293.3(CACNA1E):c.1314G>A (p.Val438=)	not provided [RCV003866781]	uncertain significance	1	181716128	181716128	Human		name
405088091	CV3167504	single nucleotide variant	NM_001205293.3(CACNA1E):c.2079G>A (p.Thr693=)	not provided [RCV003852087]	likely benign	1	181724474	181724474	Human		name
404981627	CV3179590	single nucleotide variant	NM_001205293.3(CACNA1E):c.2871G>A (p.Glu957=)	not provided [RCV003880571]	likely benign	1	181732957	181732957	Human		name
405751616	CV3291693	single nucleotide variant	NM_001205293.3(CACNA1E):c.112G>A (p.Ala38Thr)	Inborn genetic diseases [RCV004432194]	uncertain significance	1	181483856	181483856	Human	1	name
408392881	CV3519602	duplication	NM_001205293.3(CACNA1E):c.794dup (p.His266fs)	not provided [RCV004763898]	uncertain significance	1	181580613	181580614	Human		name
596928498	CV3532935	single nucleotide variant	NM_001205293.3(CACNA1E):c.125C>T (p.Thr42Met)	not provided [RCV004779034]	uncertain significance	1	181483869	181483869	Human		name
596924963	CV3536841	single nucleotide variant	NM_001205293.3(CACNA1E):c.110C>G (p.Ala37Gly)	Developmental and epileptic encephalopathy, 69 [RCV004785835]	uncertain significance	1	181483854	181483854	Human	1	name
597715406	CV3733187	single nucleotide variant	NM_001205293.3(CACNA1E):c.176G>C (p.Arg59Pro)	not provided [RCV005052376]	uncertain significance	1	181483920	181483920	Human		name
597832197	CV3751291	single nucleotide variant	NM_001205293.3(CACNA1E):c.1431G>T (p.Val477=)	not provided [RCV005084837]	likely benign	1	181717208	181717208	Human		name
597964652	CV3754406	single nucleotide variant	NM_001205293.3(CACNA1E):c.169C>T (p.Pro57Ser)	not provided [RCV005082513]	uncertain significance	1	181483913	181483913	Human		name
597956760	CV3754719	single nucleotide variant	NM_001205293.3(CACNA1E):c.2808C>T (p.Ala936=)	not provided [RCV005080569]	likely benign	1	181732894	181732894	Human		name
597870953	CV3768254	single nucleotide variant	NM_001205293.3(CACNA1E):c.2247C>T (p.Asp749=)	not provided [RCV005122633]	uncertain significance	1	181731181	181731181	Human		name
597910654	CV3770412	single nucleotide variant	NM_001205293.3(CACNA1E):c.167T>A (p.Ile56Asn)	not provided [RCV005113713]	uncertain significance	1	181483911	181483911	Human		name
597910666	CV3770413	single nucleotide variant	NM_001205293.3(CACNA1E):c.190A>G (p.Thr64Ala)	not provided [RCV005113714]	uncertain significance	1	181483934	181483934	Human		name
597907027	CV3773130	single nucleotide variant	NM_001205293.3(CACNA1E):c.2025A>G (p.Ser675=)	not provided [RCV005113195]	likely benign	1	181721826	181721826	Human		name
597883491	CV3784259	single nucleotide variant	NM_001205293.3(CACNA1E):c.1926C>A (p.Thr642=)	not provided [RCV005124548]	likely benign	1	181720825	181720825	Human		name
597942335	CV3786198	single nucleotide variant	NM_001205293.3(CACNA1E):c.1761T>G (p.Ala587=)	not provided [RCV005133889]	likely benign	1	181720215	181720215	Human		name
597942775	CV3786305	single nucleotide variant	NM_001205293.3(CACNA1E):c.1308C>T (p.Ser436=)	not provided [RCV005133996]	likely benign	1	181716122	181716122	Human		name
597972790	CV3790712	single nucleotide variant	NM_001205293.3(CACNA1E):c.2523C>G (p.Ala841=)	not provided [RCV005142927]	likely benign	1	181732609	181732609	Human		name
597900071	CV3796511	single nucleotide variant	NM_001205293.3(CACNA1E):c.101G>A (p.Gly34Glu)	not provided [RCV005152594]	uncertain significance	1	181483845	181483845	Human		name
597910725	CV3806658	single nucleotide variant	NM_001205293.3(CACNA1E):c.1749C>G (p.Thr583=)	not provided [RCV005154225]	likely benign	1	181719861	181719861	Human		name
597892402	CV3809787	single nucleotide variant	NM_001205293.3(CACNA1E):c.2991A>G (p.Gly997=)	not provided [RCV005151508]	likely benign	1	181733479	181733479	Human		name
597960506	CV3815552	single nucleotide variant	NM_001205293.3(CACNA1E):c.1479G>A (p.Val493=)	not provided [RCV005163485]	likely benign	1	181717256	181717256	Human		name
597913909	CV3817455	single nucleotide variant	NM_001205293.3(CACNA1E):c.1266C>T (p.Ala422=)	not provided [RCV005154657]	likely benign	1	181716080	181716080	Human		name
597925773	CV3819018	single nucleotide variant	NM_001205293.3(CACNA1E):c.1017C>A (p.Ser339=)	not provided [RCV005156349]	likely benign	1	181651403	181651403	Human		name
597840938	CV3825364	single nucleotide variant	NM_001205293.3(CACNA1E):c.2982G>T (p.Gly994=)	not provided [RCV005172047]	likely benign	1	181733470	181733470	Human		name
597860996	CV3826083	single nucleotide variant	NM_001205293.3(CACNA1E):c.1830C>G (p.Leu610=)	not provided [RCV005174982]	likely benign	1	181720284	181720284	Human		name
597845214	CV3827587	single nucleotide variant	NM_001205293.3(CACNA1E):c.2349C>T (p.Ser783=)	not provided [RCV005172858]	likely benign	1	181732435	181732435	Human		name
597874107	CV3836288	single nucleotide variant	NM_001205293.3(CACNA1E):c.2526G>A (p.Leu842=)	not provided [RCV005177085]	likely benign	1	181732612	181732612	Human		name
597964385	CV3848040	single nucleotide variant	NM_001205293.3(CACNA1E):c.2353C>T (p.Leu785=)	not provided [RCV005193919]	likely benign	1	181732439	181732439	Human		name
597858907	CV3850260	single nucleotide variant	NM_001205293.3(CACNA1E):c.1677C>A (p.Ile559=)	not provided [RCV005195593]	likely benign	1	181719789	181719789	Human		name
597932861	CV3862125	single nucleotide variant	NM_001205293.3(CACNA1E):c.2985G>T (p.Leu995=)	not provided [RCV005206989]	likely benign	1	181733473	181733473	Human		name
597933791	CV3862126	single nucleotide variant	NM_001205293.3(CACNA1E):c.1947T>G (p.Thr649=)	not provided [RCV005206990]	likely benign	1	181720846	181720846	Human		name
597831786	CV3863930	single nucleotide variant	NM_001205293.3(CACNA1E):c.133C>G (p.Gln45Glu)	Developmental and epileptic encephalopathy, 69 [RCV005208344]	uncertain significance	1	181483877	181483877	Human	1	name
598126208	CV3886136	single nucleotide variant	NM_001205293.3(CACNA1E):c.259G>T (p.Asp87Tyr)	not provided [RCV005241939]	uncertain significance	1	181484003	181484003	Human		name
15181700	CV761360	single nucleotide variant	NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=)	Developmental and epileptic encephalopathy, 69 [RCV003458572]\|not provided [RCV000930189]	benign\|likely benign	1	181720834	181720834	Human	1	name
15110094	CV780386	single nucleotide variant	NM_001205293.3(CACNA1E):c.2118C>T (p.Leu706=)	not provided [RCV000977366]	likely benign	1	181724513	181724513	Human		name
8629136	CV84281	single nucleotide variant	NM_000721.3(CACNA1E):c.3658G>A (p.Asp1220Asn)	Malignant melanoma [RCV000064363]	not provided	1	181739192	181739192	Human		name
8629138	CV84283	single nucleotide variant	NM_000721.3(CACNA1E):c.5988G>A (p.Met1996Ile)	Malignant melanoma [RCV000064365]	not provided	1	181794953	181794953	Human		name
597945968	CV3777214	single nucleotide variant	NM_001205293.3(CACNA1E):c.4704T>C (p.Ser1568=)	not provided [RCV005119853]	likely benign	1	181763420	181763420	Human		name
597945829	CV3787002	single nucleotide variant	NM_001205293.3(CACNA1E):c.6499C>A (p.Arg2167=)	not provided [RCV005119822]	likely benign	1	181798391	181798391	Human		name
597972220	CV3790175	single nucleotide variant	NM_001205293.3(CACNA1E):c.3084C>T (p.Gly1028=)	not provided [RCV005142598]	likely benign	1	181733572	181733572	Human		name
597950617	CV3815177	single nucleotide variant	NM_001205293.3(CACNA1E):c.3417C>T (p.Thr1139=)	not provided [RCV005161127]	likely benign	1	181736429	181736429	Human		name
597968328	CV3820899	single nucleotide variant	NM_001205293.3(CACNA1E):c.3336G>A (p.Glu1112=)	not provided [RCV005165740]	likely benign	1	181736348	181736348	Human		name
597976106	CV3829109	single nucleotide variant	NM_001205293.3(CACNA1E):c.6723C>T (p.Ala2241=)	not provided [RCV005169558]	likely benign	1	181798615	181798615	Human		name
597971680	CV3833143	single nucleotide variant	NM_001205293.3(CACNA1E):c.6258A>G (p.Ser2086=)	not provided [RCV005167040]	likely benign	1	181796717	181796717	Human		name
598174922	CV3890942	single nucleotide variant	NM_001205293.3(CACNA1E):c.925G>A (p.Glu309Lys)	not provided [RCV005251795]	uncertain significance	1	181580750	181580750	Human		name
598237879	CV3893383	single nucleotide variant	NM_001205293.3(CACNA1E):c.532A>G (p.Thr178Ala)	not provided [RCV005256116]	uncertain significance	1	181577785	181577785	Human		name
598160019	CV3897204	single nucleotide variant	NM_001205293.3(CACNA1E):c.704T>C (p.Phe235Ser)	not provided [RCV005368178]	uncertain significance	1	181579159	181579159	Human		name
126738578	CV1000167	single nucleotide variant	NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile)	CACNA1E-related disorder [RCV003973204]\|Developmental and epileptic encephalopathy, 69 [RCV003458664]\|not provided [RCV001312109]\|not specified [RCV001358621]	benign\|likely benign	1	181718098	181718098	Human	1	alternate_id
127281347	CV1066485	single nucleotide variant	NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln)	CACNA1E-related disorder [RCV003946077]\|Developmental and epileptic encephalopathy, 69 [RCV003458702]\|Inborn genetic diseases [RCV004038063]\|not provided [RCV001410399]	benign\|likely benign	1	181798362	181798362	Human	2	alternate_id
127246637	CV1088209	single nucleotide variant	NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys)	CACNA1E-related disorder [RCV003938757]\|Developmental and epileptic encephalopathy, 69 [RCV003458704]\|not provided [RCV001435461]	benign\|likely benign	1	181796818	181796818	Human	1	alternate_id
127296647	CV1130624	single nucleotide variant	NM_001205293.3(CACNA1E):c.5711C>T (p.Pro1904Leu)	CACNA1E-related disorder [RCV003980440]\|Developmental and epileptic encephalopathy, 69 [RCV003458708]\|Inborn genetic diseases [RCV005320815]\|not provided [RCV001497549]	benign\|likely benign	1	181785744	181785744	Human	2	alternate_id
127319888	CV1153371	single nucleotide variant	NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=)	CACNA1E-related disorder [RCV003980617]\|Developmental and epileptic encephalopathy, 69 [RCV003458719]\|not provided [RCV001522363]	benign\|likely benign	1	181733500	181733500	Human	1	alternate_id
127296581	CV1153372	single nucleotide variant	NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met)	CACNA1E-related disorder [RCV003940902]\|Developmental and epileptic encephalopathy, 69 [RCV003458710]\|Inborn genetic diseases [RCV002564311]\|not provided [RCV001512578]	benign\|likely benign	1	181733543	181733543	Human	2	alternate_id
127309809	CV1153373	single nucleotide variant	NM_001205293.3(CACNA1E):c.3065C>T (p.Thr1022Met)	CACNA1E-related disorder [RCV003948538]\|Developmental and epileptic encephalopathy, 69 [RCV003458717]\|not provided [RCV001518029]	benign\|likely benign	1	181733553	181733553	Human	1	alternate_id
150332461	CV1168796	single nucleotide variant	NM_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln)	CACNA1E-related disorder [RCV003956223]\|Developmental and epileptic encephalopathy, 69 [RCV003458722]\|not provided [RCV001536893]	benign\|likely benign	1	181732842	181732842	Human	1	alternate_id
150478269	CV1218758	single nucleotide variant	NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val)	CACNA1E-related disorder [RCV003941046]\|Developmental and epileptic encephalopathy, 69 [RCV003458727]\|Inborn genetic diseases [RCV002538509]\|not provided [RCV001616385]	benign\|likely benign	1	181798428	181798428	Human	2	alternate_id
150499543	CV1224608	single nucleotide variant	NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr)	CACNA1E-related disorder [RCV003941051]\|Developmental and epileptic encephalopathy, 69 [RCV003458730]\|Inborn genetic diseases [RCV002538516]\|not provided [RCV001620439]	benign\|likely benign	1	181732578	181732578	Human	2	alternate_id
150517389	CV1226839	single nucleotide variant	NM_001205293.3(CACNA1E):c.5844G>A (p.Gln1948=)	CACNA1E-related disorder [RCV004752029]\|Developmental and epileptic encephalopathy, 69 [RCV003458736]\|not provided [RCV001639933]	benign	1	181790502	181790502	Human	1	alternate_id
150442816	CV1232482	single nucleotide variant	NM_001205293.3(CACNA1E):c.6832A>G (p.Met2278Val)	CACNA1E-related disorder [RCV003910939]\|Developmental and epileptic encephalopathy, 69 [RCV003458738]\|not provided [RCV001645450]	benign\|likely benign	1	181798724	181798724	Human	1	alternate_id
150491889	CV1238075	single nucleotide variant	NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr)	CACNA1E-related disorder [RCV003948654]\|Developmental and epileptic encephalopathy, 69 [RCV003458742]\|Inborn genetic diseases [RCV004968228]\|not provided [RCV001654921]	benign\|likely benign	1	181798613	181798613	Human	2	alternate_id
150486698	CV1262617	single nucleotide variant	NM_001205293.3(CACNA1E):c.6567C>T (p.Ser2189=)	CACNA1E-related disorder [RCV003975958]\|Developmental and epileptic encephalopathy, 69 [RCV003458748]\|not provided [RCV001687014]	benign	1	181798459	181798459	Human	1	alternate_id
150499485	CV1270830	single nucleotide variant	NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu)	CACNA1E-related disorder [RCV003921343]\|Developmental and epileptic encephalopathy, 69 [RCV003458749]\|Inborn genetic diseases [RCV002538619]\|not provided [RCV001689380]	benign\|likely benign	1	181732767	181732767	Human	2	alternate_id
150521023	CV1290789	single nucleotide variant	NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=)	CACNA1E-related disorder [RCV003931307]\|Developmental and epileptic encephalopathy, 69 [RCV003458754]\|not provided [RCV001732448]	benign\|likely benign	1	181790478	181790478	Human	1	alternate_id
150546952	CV1291770	single nucleotide variant	NM_001205293.3(CACNA1E):c.6625G>A (p.Glu2209Lys)	CACNA1E-related disorder [RCV004752041]\|Developmental and epileptic encephalopathy, 69 [RCV003458756]\|not provided [RCV001733482]	benign\|likely benign	1	181798517	181798517	Human	1	alternate_id
151823557	CV1448588	single nucleotide variant	NM_001205293.3(CACNA1E):c.1843G>A (p.Val615Ile)	CACNA1E-related disorder [RCV003418222]\|Developmental and epileptic encephalopathy, 69 [RCV003458798]\|not provided [RCV001934381]	uncertain significance	1	181720297	181720297	Human	1	alternate_id
151713322	CV1464069	single nucleotide variant	NM_001205293.3(CACNA1E):c.830A>T (p.Tyr277Phe)	CACNA1E-related disorder [RCV003892972]\|not provided [RCV001964730]	uncertain significance	1	181580655	181580655	Human	1	alternate_id
151827053	CV1467375	single nucleotide variant	NM_001205293.3(CACNA1E):c.4410C>T (p.Arg1470=)	CACNA1E-related disorder [RCV004752097]\|not provided [RCV001901428]	likely benign\|uncertain significance	1	181758027	181758027	Human	1	alternate_id
151867235	CV1474131	single nucleotide variant	NM_001205293.3(CACNA1E):c.5872G>A (p.Gly1958Arg)	CACNA1E-related disorder [RCV004752088]\|not provided [RCV001906032]	benign\|likely benign\|uncertain significance	1	181790530	181790530	Human	1	alternate_id
152129360	CV1549260	single nucleotide variant	NM_001205293.3(CACNA1E):c.5406G>A (p.Thr1802=)	CACNA1E-related disorder [RCV004752161]\|not provided [RCV002099275]	likely benign	1	181783720	181783720	Human	1	alternate_id
152175916	CV1580179	single nucleotide variant	NM_001205293.3(CACNA1E):c.3691G>A (p.Val1231Ile)	CACNA1E-related disorder [RCV004750708]\|not provided [RCV002164054]	likely benign	1	181739225	181739225	Human	1	alternate_id
152152488	CV1623218	single nucleotide variant	NM_001205293.3(CACNA1E):c.3582G>A (p.Thr1194=)	CACNA1E-related disorder [RCV003911304]\|not provided [RCV002221031]	likely benign	1	181738396	181738396	Human	1	alternate_id
152137272	CV1652306	single nucleotide variant	NM_001205293.3(CACNA1E):c.4101C>T (p.Thr1367=)	CACNA1E-related disorder [RCV004752152]\|Developmental and epileptic encephalopathy, 69 [RCV003458827]\|not provided [RCV002083681]	likely benign	1	181756067	181756067	Human	1	alternate_id
156112191	CV1961749	single nucleotide variant	NM_001205293.3(CACNA1E):c.4209T>C (p.Tyr1403=)	CACNA1E-related disorder [RCV003903722]\|not provided [RCV002592816]	likely benign	1	181757006	181757006	Human	1	alternate_id
156014995	CV2061557	microsatellite	NM_001205293.3(CACNA1E):c.3337AAG[2] (p.Lys1115del)	CACNA1E-related disorder [RCV003418616]\|not provided [RCV002820329]	likely benign\|uncertain significance	1	181736347	181736349	Human		alternate_id
156168163	CV2320066	single nucleotide variant	NM_001205293.3(CACNA1E):c.2347A>G (p.Ser783Gly)	CACNA1E-related disorder [RCV003973739]\|Inborn genetic diseases [RCV002929687]	uncertain significance	1	181732433	181732433	Human	2	alternate_id
11559938	CV259636	single nucleotide variant	NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	CACNA1E-related disorder [RCV003417866]\|Developmental and epileptic encephalopathy [RCV001849352]\|Developmental and epileptic encephalopathy, 69 [RCV000754086]\|Inborn genetic diseases [RCV001266668]\|not provided [RCV000255319]	pathogenic\|likely pathogenic	1	181651440	181651440	Human	3	alternate_id
401919064	CV2798159	single nucleotide variant	NM_001205293.3(CACNA1E):c.1850T>C (p.Phe617Ser)	CACNA1E-related disorder [RCV003402193]	uncertain significance	1	181720304	181720304	Human		trait , alternate_id
401913181	CV2798561	single nucleotide variant	NM_001205293.3(CACNA1E):c.6860G>A (p.Arg2287Lys)	CACNA1E-related disorder [RCV003427793]	uncertain significance	1	181798752	181798752	Human		trait , alternate_id
405226857	CV2963379	single nucleotide variant	NM_001205293.3(CACNA1E):c.4615C>T (p.Arg1539Ter)	CACNA1E-related disorder [RCV004731554]\|not provided [RCV003681572]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	1	181762583	181762583	Human	1	alternate_id
405289717	CV3213292	single nucleotide variant	NM_001205293.3(CACNA1E):c.4896A>C (p.Ile1632=)	CACNA1E-related disorder [RCV003961945]	likely benign	1	181771307	181771307	Human		trait , alternate_id
405279164	CV3219348	microsatellite	NM_001205293.3(CACNA1E):c.1080_1081dup (p.Val361fs)	CACNA1E-related disorder [RCV003954835]	uncertain significance	1	181710965	181710966	Human		trait , alternate_id
15168340	CV696303	single nucleotide variant	NM_001205293.3(CACNA1E):c.5710C>A (p.Pro1904Thr)	CACNA1E-related disorder [RCV003970694]\|Developmental and epileptic encephalopathy, 69 [RCV003458574]\|not provided [RCV000949236]	benign\|likely benign	1	181785743	181785743	Human	1	alternate_id
15163381	CV718421	single nucleotide variant	NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=)	CACNA1E-related disorder [RCV003975541]\|Developmental and epileptic encephalopathy, 69 [RCV003458568]\|not provided [RCV000881958]	benign\|likely benign	1	181758808	181758808	Human	1	alternate_id
15197397	CV718422	single nucleotide variant	NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=)	CACNA1E-related disorder [RCV003975611]\|Developmental and epileptic encephalopathy, 69 [RCV003458570]\|not provided [RCV000890046]	benign\|likely benign	1	181763450	181763450	Human	1	alternate_id
150531725	CV1291363	duplication	NM_001205293.3(CACNA1E):c.5898+259_5898+263dup	not provided [RCV001733191]	likely benign	1	181790811	181790812	Human		name
150548398	CV1316302	insertion	NM_001205293.3(CACNA1E):c.1315+166_1315+167insA	not provided [RCV001786103]	benign	1	181716295	181716296	Human		name
150333411	CV1170636	insertion	NM_001205293.3(CACNA1E):c.5787-138_5787-137insTA	not provided [RCV001539481]	benign	1	181790307	181790308	Human		name
597888264	CV3787712	indel	NM_001205293.3(CACNA1E):c.1638+9_1638+10delinsCT	not provided [RCV005125279]	benign	1	181718176	181718177	Human		name
150457345	CV1237059	insertion	NM_001205293.3(CACNA1E):c.5787-138_5787-137insTTA	not provided [RCV001648738]	benign	1	181790307	181790308	Human		name
150531736	CV1291368	insertion	NM_001205293.3(CACNA1E):c.5787-138_5787-137insTTTA	not provided [RCV001733195]	likely benign	1	181790307	181790308	Human		name
597935243	CV3807177	single nucleotide variant	NM_001205293.3(CACNA1E):c.3882T>C (p.Ile1294=)	not provided [RCV005157748]	likely benign	1	181755290	181755290	Human		name

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