Cacnb4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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326 records found for search term Cacnb4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
10050155	CV191506	single nucleotide variant	NM_000726.5(CACNB4):c.*4T>C	Episodic ataxia type 5 [RCV000302478]\|Juvenile myoclonic epilepsy [RCV000359540]\|not specified [RCV000174692]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	151839115	151839115	Human	2	name
8690408	CV140359	single nucleotide variant	NM_000726.5(CACNB4):c.-25G>T	Episodic ataxia type 5 [RCV000282574]\|Juvenile myoclonic epilepsy [RCV000372679]\|not provided [RCV004707999]\|not specified [RCV000124120]	benign	2	152099036	152099036	Human	2	name
10049355	CV190286	single nucleotide variant	NM_000726.5(CACNB4):c.-10G>A	not provided [RCV000173166]	uncertain significance	2	152099021	152099021	Human		name
11656914	CV282994	single nucleotide variant	NM_000726.4(CACNB4):c.-57G>T	Hereditary episodic ataxia [RCV000337561]\|Juvenile myoclonic epilepsy [RCV000405754]	uncertain significance	2	152099068	152099068	Human	2	name
11666078	CV353540	single nucleotide variant	NM_000726.4(CACNB4):c.-70G>A	Hereditary episodic ataxia [RCV000314711]\|Juvenile myoclonic epilepsy [RCV000393297]	likely benign	2	152099081	152099081	Human	2	name
11592064	CV282285	single nucleotide variant	NM_000726.5(CACNB4):c.*795T>G	Episodic ataxia type 5 [RCV000405646]\|Juvenile myoclonic epilepsy [RCV000334968]	uncertain significance	2	151838324	151838324	Human	2	name
11588888	CV282287	single nucleotide variant	NM_000726.5(CACNB4):c.*624A>T	Episodic ataxia type 5 [RCV000306401]\|Juvenile myoclonic epilepsy [RCV000363450]\|not provided [RCV002274985]	benign\|uncertain significance	2	151838495	151838495	Human	2	name
11594940	CV282291	deletion	NM_000726.5(CACNB4):c.*624del	Hereditary episodic ataxia [RCV000364707]\|Juvenile myoclonic epilepsy [RCV000395382]	benign	2	151838495	151838495	Human	2	name
11593456	CV282292	single nucleotide variant	NM_000726.5(CACNB4):c.*443A>G	Episodic ataxia type 5 [RCV000403745]\|Juvenile myoclonic epilepsy [RCV000349261]	benign\|likely benign	2	151838676	151838676	Human	2	name
11587467	CV282949	deletion	NM_000726.5(CACNB4):c.*787del	Hereditary episodic ataxia [RCV000352467]\|Juvenile myoclonic epilepsy [RCV000295242]	likely benign	2	151838332	151838332	Human	2	name
11589674	CV282954	single nucleotide variant	NM_000726.5(CACNB4):c.*737C>T	Episodic ataxia type 5 [RCV000312395]\|Juvenile myoclonic epilepsy [RCV000406529]\|not provided [RCV003311762]	benign\|uncertain significance	2	151838382	151838382	Human	2	name
11583256	CV282983	single nucleotide variant	NM_000726.5(CACNB4):c.*528A>T	Episodic ataxia type 5 [RCV000265242]\|Juvenile myoclonic epilepsy [RCV000357620]	benign\|likely benign	2	151838591	151838591	Human	2	name
11585168	CV282984	deletion	NM_000726.5(CACNB4):c.*454del	Hereditary episodic ataxia [RCV000278945]\|Juvenile myoclonic epilepsy [RCV000317663]	uncertain significance	2	151838665	151838665	Human	2	name
11586783	CV282986	single nucleotide variant	NM_000726.5(CACNB4):c.*442G>A	Episodic ataxia type 5 [RCV000347650]\|Juvenile myoclonic epilepsy [RCV000290411]\|not provided [RCV004708393]	benign	2	151838677	151838677	Human	2	name
11592766	CV282987	deletion	NM_000726.5(CACNB4):c.*151del	Hereditary episodic ataxia [RCV000394045]\|Juvenile myoclonic epilepsy [RCV000341999]\|not provided [RCV004694484]	uncertain significance	2	151838968	151838968	Human	2	name
11646353	CV282989	single nucleotide variant	NM_000726.5(CACNB4):c.64-4C>T	Episodic ataxia type 5 [RCV000325118]\|Juvenile myoclonic epilepsy [RCV000270184]	uncertain significance	2	152098417	152098417	Human	2	name
11586244	CV284493	single nucleotide variant	NM_000726.5(CACNB4):c.*890G>C	Episodic ataxia type 5 [RCV000320742]\|Juvenile myoclonic epilepsy [RCV000286696]\|not provided [RCV004708392]	benign	2	151838229	151838229	Human	2	name
11583417	CV284498	single nucleotide variant	NM_000726.5(CACNB4):c.*592T>C	Episodic ataxia type 5 [RCV000323741]\|Juvenile myoclonic epilepsy [RCV000266348]	uncertain significance	2	151838527	151838527	Human	2	name
11654600	CV284501	duplication	NM_000726.5(CACNB4):c.*454dup	Hereditary episodic ataxia [RCV000318982]\|Juvenile myoclonic epilepsy [RCV000375926]	uncertain significance	2	151838664	151838665	Human	2	name
11585613	CV284925	single nucleotide variant	NM_000726.5(CACNB4):c.*865G>A	Episodic ataxia type 5 [RCV000282146]\|Juvenile myoclonic epilepsy [RCV000374384]	benign\|likely benign	2	151838254	151838254	Human	2	name
11635144	CV284930	duplication	NM_000726.5(CACNB4):c.*151dup	Hereditary episodic ataxia [RCV000403497]\|Juvenile myoclonic epilepsy [RCV000308121]	uncertain significance	2	151838967	151838968	Human	2	name
28871392	CV881229	single nucleotide variant	NM_000726.5(CACNB4):c.*915T>C	Episodic ataxia type 5 [RCV001131729]	uncertain significance	2	151838204	151838204	Human	1	name
28871394	CV881230	single nucleotide variant	NM_000726.5(CACNB4):c.*908C>T	Episodic ataxia type 5 [RCV001131730]	uncertain significance	2	151838211	151838211	Human	1	name
28873242	CV881231	single nucleotide variant	NM_000726.5(CACNB4):c.*544T>C	Episodic ataxia type 5 [RCV001132731]	uncertain significance	2	151838575	151838575	Human	1	name
28873245	CV881232	single nucleotide variant	NM_000726.5(CACNB4):c.*424A>C	Episodic ataxia type 5 [RCV001132732]	benign	2	151838695	151838695	Human	1	name
28873248	CV881233	single nucleotide variant	NM_000726.5(CACNB4):c.*365C>G	Episodic ataxia type 5 [RCV001132733]	uncertain significance	2	151838754	151838754	Human	1	name
126756961	CV1023771	single nucleotide variant	NM_000726.5(CACNB4):c.618+4A>C	Idiopathic generalized epilepsy [RCV001339430]	uncertain significance	2	151870838	151870838	Human	2	name
127325704	CV1132282	single nucleotide variant	NM_000726.5(CACNB4):c.391-9G>A	Idiopathic generalized epilepsy [RCV001506083]	likely benign	2	151876565	151876565	Human	2	name
150435824	CV1246514	single nucleotide variant	NM_000726.5(CACNB4):c.619-9C>T	not provided [RCV001665513]	uncertain significance	2	151870620	151870620	Human		name
150449434	CV1275670	single nucleotide variant	NM_000726.5(CACNB4):c.64-58C>G	not provided [RCV001708125]	benign	2	152098471	152098471	Human		name
10397316	CV201258	single nucleotide variant	NM_000726.5(CACNB4):c.869-5T>G	Idiopathic generalized epilepsy [RCV001240861]	likely benign\|uncertain significance	2	151855380	151855380	Human	2	name
11649466	CV282202	single nucleotide variant	NM_000726.5(CACNB4):c.*5863T>G	Episodic ataxia type 5 [RCV000323711]\|Juvenile myoclonic epilepsy [RCV000287339]	uncertain significance	2	151833256	151833256	Human	2	name
11589869	CV282203	single nucleotide variant	NM_000726.5(CACNB4):c.*5487T>C	Episodic ataxia type 5 [RCV000313922]\|Juvenile myoclonic epilepsy [RCV000396355]	uncertain significance	2	151833632	151833632	Human	2	name
11593545	CV282204	single nucleotide variant	NM_000726.5(CACNB4):c.*5433A>G	Episodic ataxia type 5 [RCV000396360]\|Juvenile myoclonic epilepsy [RCV000350046]	likely benign\|uncertain significance	2	151833686	151833686	Human	2	name
11584014	CV282210	single nucleotide variant	NM_000726.5(CACNB4):c.*5385C>T	Episodic ataxia type 5 [RCV000307038]\|Juvenile myoclonic epilepsy [RCV000270694]\|not provided [RCV004709865]	benign	2	151833734	151833734	Human	2	name
11582908	CV282211	single nucleotide variant	NM_000726.5(CACNB4):c.*5029T>C	Episodic ataxia type 5 [RCV000262865]\|Juvenile myoclonic epilepsy [RCV000318012]\|not provided [RCV004709866]	benign	2	151834090	151834090	Human	2	name
11588628	CV282215	single nucleotide variant	NM_000726.5(CACNB4):c.*4773A>G	Episodic ataxia type 5 [RCV000359323]\|Juvenile myoclonic epilepsy [RCV000304614]	benign\|likely benign	2	151834346	151834346	Human	2	name
11591287	CV282225	single nucleotide variant	NM_000726.5(CACNB4):c.*4081G>A	Episodic ataxia type 5 [RCV000327366]\|Juvenile myoclonic epilepsy [RCV000381909]	benign\|uncertain significance	2	151835038	151835038	Human	2	name
11649031	CV282228	single nucleotide variant	NM_000726.5(CACNB4):c.*3688G>A	Episodic ataxia type 5 [RCV000284958]\|Juvenile myoclonic epilepsy [RCV000403234]	uncertain significance	2	151835431	151835431	Human	2	name
11658816	CV282238	single nucleotide variant	NM_000726.5(CACNB4):c.*2542G>A	Episodic ataxia type 5 [RCV000351755]\|Juvenile myoclonic epilepsy [RCV000396387]	uncertain significance	2	151836577	151836577	Human	2	name
11589206	CV282249	single nucleotide variant	NM_000726.5(CACNB4):c.*2210A>G	Episodic ataxia type 5 [RCV000396374]\|Juvenile myoclonic epilepsy [RCV000309131]	benign\|likely benign	2	151836909	151836909	Human	2	name
11583299	CV282262	single nucleotide variant	NM_000726.5(CACNB4):c.*2163G>A	Episodic ataxia type 5 [RCV000320944]\|Juvenile myoclonic epilepsy [RCV000265805]	benign\|likely benign	2	151836956	151836956	Human	2	name
11587621	CV282263	single nucleotide variant	NM_000726.5(CACNB4):c.*1937T>G	Episodic ataxia type 5 [RCV000351395]\|Juvenile myoclonic epilepsy [RCV000296437]	uncertain significance	2	151837182	151837182	Human	2	name
11651893	CV282264	single nucleotide variant	NM_000726.5(CACNB4):c.*1811C>A	Episodic ataxia type 5 [RCV000354017]\|Juvenile myoclonic epilepsy [RCV000301459]	uncertain significance	2	151837308	151837308	Human	2	name
11586940	CV282265	deletion	NM_000726.5(CACNB4):c.*1520del	Hereditary episodic ataxia [RCV000344245]\|Juvenile myoclonic epilepsy [RCV000291671]	uncertain significance	2	151837599	151837599	Human	2	name
11649243	CV282273	duplication	NM_000726.5(CACNB4):c.*1501dup	Hereditary episodic ataxia [RCV000285897]\|Juvenile myoclonic epilepsy [RCV000382636]	uncertain significance	2	151837617	151837618	Human	2	name
11587673	CV282275	single nucleotide variant	NM_000726.5(CACNB4):c.*1284T>G	Episodic ataxia type 5 [RCV000396159]\|Juvenile myoclonic epilepsy [RCV000297046]	benign\|likely benign	2	151837835	151837835	Human	2	name
11592447	CV282867	single nucleotide variant	NM_000726.5(CACNB4):c.*5622C>T	Episodic ataxia type 5 [RCV000374593]\|Juvenile myoclonic epilepsy [RCV000338696]	benign\|likely benign	2	151833497	151833497	Human	2	name
11585330	CV282873	single nucleotide variant	NM_000726.5(CACNB4):c.*5562A>G	Episodic ataxia type 5 [RCV000280166]\|Juvenile myoclonic epilepsy [RCV000335281]	benign\|likely benign	2	151833557	151833557	Human	2	name
11590722	CV282884	single nucleotide variant	NM_000726.5(CACNB4):c.*5122C>T	Hereditary episodic ataxia [RCV000376459]\|Juvenile myoclonic epilepsy [RCV000321784]	uncertain significance	2	151833997	151833997	Human	2	name
11593802	CV282889	single nucleotide variant	NM_000726.5(CACNB4):c.*4976T>C	Episodic ataxia type 5 [RCV000352226]\|Juvenile myoclonic epilepsy [RCV000388152]	benign\|likely benign	2	151834143	151834143	Human	2	name
11586918	CV282890	single nucleotide variant	NM_000726.5(CACNB4):c.*4131A>G	Episodic ataxia type 5 [RCV000386227]\|Juvenile myoclonic epilepsy [RCV000291139]	likely benign\|uncertain significance	2	151834988	151834988	Human	2	name
11592591	CV282897	single nucleotide variant	NM_000726.5(CACNB4):c.*3668T>C	Episodic ataxia type 5 [RCV000340073]\|Juvenile myoclonic epilepsy [RCV000396193]	likely benign\|uncertain significance	2	151835451	151835451	Human	2	name
11584628	CV282908	single nucleotide variant	NM_000726.5(CACNB4):c.*3157T>A	Episodic ataxia type 5 [RCV000369797]\|Juvenile myoclonic epilepsy [RCV000275217]	benign	2	151835962	151835962	Human	2	name
11586361	CV282909	single nucleotide variant	NM_000726.5(CACNB4):c.*2837A>G	Episodic ataxia type 5 [RCV000287091]\|Juvenile myoclonic epilepsy [RCV000381516]	benign\|likely benign	2	151836282	151836282	Human	2	name
11590689	CV282910	single nucleotide variant	NM_000726.5(CACNB4):c.*2778A>C	Episodic ataxia type 5 [RCV000376392]\|Juvenile myoclonic epilepsy [RCV000321696]	benign\|likely benign	2	151836341	151836341	Human	2	name
11585555	CV282911	single nucleotide variant	NM_000726.5(CACNB4):c.*2729G>A	Episodic ataxia type 5 [RCV000281758]\|Juvenile myoclonic epilepsy [RCV000336781]\|not provided [RCV004710848]	benign\|likely benign	2	151836390	151836390	Human	2	name
11589695	CV282912	single nucleotide variant	NM_000726.5(CACNB4):c.*2391T>G	Episodic ataxia type 5 [RCV000367207]\|Juvenile myoclonic epilepsy [RCV000312570]\|not provided [RCV004710849]	benign\|likely benign	2	151836728	151836728	Human	2	name
11590953	CV282915	single nucleotide variant	NM_000726.5(CACNB4):c.*2188T>G	Episodic ataxia type 5 [RCV000360268]\|Juvenile myoclonic epilepsy [RCV000324254]\|not provided [RCV003430835]	benign\|likely benign\|uncertain significance	2	151836931	151836931	Human	2	name
11582775	CV282916	single nucleotide variant	NM_000726.5(CACNB4):c.*1952C>A	Episodic ataxia type 5 [RCV000262230]\|Juvenile myoclonic epilepsy [RCV000375458]	uncertain significance	2	151837167	151837167	Human	2	name
11652479	CV282937	single nucleotide variant	NM_000726.5(CACNB4):c.*1826A>G	Episodic ataxia type 5 [RCV000305162]\|Juvenile myoclonic epilepsy [RCV000397728]	uncertain significance	2	151837293	151837293	Human	2	name
11582843	CV282940	single nucleotide variant	NM_000726.5(CACNB4):c.*1814G>A	Episodic ataxia type 5 [RCV000359708]\|Juvenile myoclonic epilepsy [RCV000262656]\|not provided [RCV003221930]	benign\|likely benign	2	151837305	151837305	Human	2	name
11644749	CV282941	single nucleotide variant	NM_000726.5(CACNB4):c.*1785G>A	Episodic ataxia type 5 [RCV000333014]\|Juvenile myoclonic epilepsy [RCV000261529]	uncertain significance	2	151837334	151837334	Human	2	name
11588413	CV282942	single nucleotide variant	NM_000726.5(CACNB4):c.*1459T>C	Episodic ataxia type 5 [RCV000336818]\|Juvenile myoclonic epilepsy [RCV000302963]	likely benign	2	151837660	151837660	Human	2	name
11589922	CV282946	single nucleotide variant	NM_000726.5(CACNB4):c.*1185T>C	Episodic ataxia type 5 [RCV000366813]\|Juvenile myoclonic epilepsy [RCV000314554]\|not provided [RCV004708391]	benign	2	151837934	151837934	Human	2	name
11590075	CV284475	single nucleotide variant	NM_000726.5(CACNB4):c.*6183A>G	Episodic ataxia type 5 [RCV000315311]\|Juvenile myoclonic epilepsy [RCV000353759]	likely benign\|uncertain significance	2	151832936	151832936	Human	2	name
11582645	CV284478	single nucleotide variant	NM_000726.5(CACNB4):c.*6140G>T	Episodic ataxia type 5 [RCV000318901]\|Juvenile myoclonic epilepsy [RCV000261338]\|not provided [RCV004710846]	benign\|likely benign	2	151832979	151832979	Human	2	name
11583156	CV284479	single nucleotide variant	NM_000726.5(CACNB4):c.*4771G>A	Episodic ataxia type 5 [RCV000300993]\|Juvenile myoclonic epilepsy [RCV000264525]\|not provided [RCV004710847]	benign\|likely benign	2	151834348	151834348	Human	2	name
11582638	CV284480	single nucleotide variant	NM_000726.5(CACNB4):c.*4570T>C	Episodic ataxia type 5 [RCV000261117]\|Juvenile myoclonic epilepsy [RCV000355999]	benign\|likely benign	2	151834549	151834549	Human	2	name
11584859	CV284481	single nucleotide variant	NM_000726.5(CACNB4):c.*4145T>C	Episodic ataxia type 5 [RCV000331698]\|Juvenile myoclonic epilepsy [RCV000276586]	uncertain significance	2	151834974	151834974	Human	2	name
11584177	CV284482	single nucleotide variant	NM_000726.5(CACNB4):c.*2885T>C	Episodic ataxia type 5 [RCV000271786]\|Juvenile myoclonic epilepsy [RCV000326803]	benign\|likely benign	2	151836234	151836234	Human	2	name
11583804	CV284486	deletion	NM_000726.5(CACNB4):c.*2188del	Hereditary episodic ataxia [RCV000363528]\|Juvenile myoclonic epilepsy [RCV000269173]	benign	2	151836931	151836931	Human	2	name
11657709	CV284491	deletion	NM_000726.5(CACNB4):c.*1501del	Hereditary episodic ataxia [RCV000343203]\|Juvenile myoclonic epilepsy [RCV000390715]\|not provided [RCV004694483]	uncertain significance	2	151837618	151837618	Human	2	name
11593991	CV284492	single nucleotide variant	NM_000726.5(CACNB4):c.*1186G>T	Episodic ataxia type 5 [RCV000396153]\|Juvenile myoclonic epilepsy [RCV000354157]\|not provided [RCV004709867]	benign	2	151837933	151837933	Human	2	name
401962534	CV2845156	single nucleotide variant	NM_000726.5(CACNB4):c.391-1G>A	not provided [RCV003482617]	uncertain significance	2	151876557	151876557	Human		name
11646721	CV284781	duplication	NM_000726.5(CACNB4):c.*5995dup	Hereditary episodic ataxia [RCV000357428]\|Juvenile myoclonic epilepsy [RCV000272271]	uncertain significance	2	151833123	151833124	Human	2	name
11655662	CV284799	single nucleotide variant	NM_000726.5(CACNB4):c.*5977G>T	Episodic ataxia type 5 [RCV000327295]\|Juvenile myoclonic epilepsy [RCV000381840]	uncertain significance	2	151833142	151833142	Human	2	name
11585835	CV284801	single nucleotide variant	NM_000726.5(CACNB4):c.*5855A>C	Episodic ataxia type 5 [RCV000378245]\|Juvenile myoclonic epilepsy [RCV000283818]	benign\|likely benign	2	151833264	151833264	Human	2	name
11653348	CV284803	single nucleotide variant	NM_000726.5(CACNB4):c.*5418T>C	Episodic ataxia type 5 [RCV000365237]\|Juvenile myoclonic epilepsy [RCV000310557]	uncertain significance	2	151833701	151833701	Human	2	name
11583425	CV284815	single nucleotide variant	NM_000726.5(CACNB4):c.*5372T>C	Episodic ataxia type 5 [RCV000361266]\|Juvenile myoclonic epilepsy [RCV000266635]	benign\|likely benign	2	151833747	151833747	Human	2	name
11585003	CV284818	single nucleotide variant	NM_000726.5(CACNB4):c.*5022A>G	Episodic ataxia type 5 [RCV000278076]\|Juvenile myoclonic epilepsy [RCV000372614]\|not provided [RCV003430834]	benign\|uncertain significance	2	151834097	151834097	Human	2	name
11587291	CV284819	single nucleotide variant	NM_000726.5(CACNB4):c.*4969G>A	Episodic ataxia type 5 [RCV000293875]\|Juvenile myoclonic epilepsy [RCV000348750]	benign\|likely benign	2	151834150	151834150	Human	2	name
11589236	CV284822	single nucleotide variant	NM_000726.5(CACNB4):c.*4919G>A	Episodic ataxia type 5 [RCV000405343]\|Juvenile myoclonic epilepsy [RCV000308914]	uncertain significance	2	151834200	151834200	Human	2	name
11657924	CV284851	single nucleotide variant	NM_000726.5(CACNB4):c.*4845T>C	Episodic ataxia type 5 [RCV000398120]\|Juvenile myoclonic epilepsy [RCV000345132]	uncertain significance	2	151834274	151834274	Human	2	name
11635207	CV284852	single nucleotide variant	NM_000726.5(CACNB4):c.*4569A>G	Episodic ataxia type 5 [RCV000389604]\|Juvenile myoclonic epilepsy [RCV000316446]	uncertain significance	2	151834550	151834550	Human	2	name
11586336	CV284875	single nucleotide variant	NM_000726.5(CACNB4):c.*3804G>C	Episodic ataxia type 5 [RCV000342430]\|Juvenile myoclonic epilepsy [RCV000287445]\|not provided [RCV004708390]	benign	2	151835315	151835315	Human	2	name
11588083	CV284876	single nucleotide variant	NM_000726.5(CACNB4):c.*3475A>T	Episodic ataxia type 5 [RCV000300093]\|Juvenile myoclonic epilepsy [RCV000354973]	likely benign\|uncertain significance	2	151835644	151835644	Human	2	name
11654189	CV284882	single nucleotide variant	NM_000726.5(CACNB4):c.*3387C>G	Episodic ataxia type 5 [RCV000396215]\|Juvenile myoclonic epilepsy [RCV000315461]	uncertain significance	2	151835732	151835732	Human	2	name
11656025	CV284883	single nucleotide variant	NM_000726.5(CACNB4):c.*2924T>C	Episodic ataxia type 5 [RCV000330200]\|Juvenile myoclonic epilepsy [RCV000366194]	uncertain significance	2	151836195	151836195	Human	2	name
11585014	CV284884	single nucleotide variant	NM_000726.5(CACNB4):c.*2695G>T	Episodic ataxia type 5 [RCV000403321]\|Juvenile myoclonic epilepsy [RCV000278142]	benign\|likely benign	2	151836424	151836424	Human	2	name
11590284	CV284885	single nucleotide variant	NM_000726.5(CACNB4):c.*1942T>C	Episodic ataxia type 5 [RCV000317550]\|Juvenile myoclonic epilepsy [RCV000372145]\|not provided [RCV002510870]	benign\|likely benign	2	151837177	151837177	Human	2	name
11650574	CV284889	single nucleotide variant	NM_000726.5(CACNB4):c.*1931T>C	Episodic ataxia type 5 [RCV000387330]\|Juvenile myoclonic epilepsy [RCV000293547]	uncertain significance	2	151837188	151837188	Human	2	name
11588877	CV284893	single nucleotide variant	NM_000726.5(CACNB4):c.*1909C>T	Episodic ataxia type 5 [RCV000344887]\|Juvenile myoclonic epilepsy [RCV000306323]	benign\|likely benign	2	151837210	151837210	Human	2	name
11584498	CV284898	single nucleotide variant	NM_000726.5(CACNB4):c.*1656T>C	Episodic ataxia type 5 [RCV000389857]\|Juvenile myoclonic epilepsy [RCV000274412]\|not provided [RCV004710850]	benign\|likely benign	2	151837463	151837463	Human	2	name
11656180	CV284904	single nucleotide variant	NM_000726.5(CACNB4):c.*1635T>C	Episodic ataxia type 5 [RCV000383678]\|Juvenile myoclonic epilepsy [RCV000331415]	uncertain significance	2	151837484	151837484	Human	2	name
11584573	CV284921	single nucleotide variant	NM_000726.5(CACNB4):c.*1110C>A	Episodic ataxia type 5 [RCV000327764]\|Juvenile myoclonic epilepsy [RCV000274937]	likely benign\|uncertain significance	2	151838009	151838009	Human	2	name
11583782	CV284923	single nucleotide variant	NM_000726.5(CACNB4):c.*1093T>C	Episodic ataxia type 5 [RCV000366087]\|Juvenile myoclonic epilepsy [RCV000268950]	benign\|likely benign	2	151838026	151838026	Human	2	name
11591177	CV284924	single nucleotide variant	NM_000726.5(CACNB4):c.*1009C>T	Episodic ataxia type 5 [RCV000378868]\|Juvenile myoclonic epilepsy [RCV000326620]	benign\|likely benign	2	151838110	151838110	Human	2	name
11579284	CV284934	single nucleotide variant	NM_000726.5(CACNB4):c.521+9C>T	Episodic ataxia type 5 [RCV000299705]\|Juvenile myoclonic epilepsy [RCV000401935]	benign\|likely benign	2	151876417	151876417	Human	2	name
405293160	CV3221306	single nucleotide variant	NM_000726.5(CACNB4):c.598+7G>C	CACNB4-related disorder [RCV004545710]	likely benign	2	151872410	151872410	Human		name , trait , alternate_id
13477145	CV440539	single nucleotide variant	NM_000726.5(CACNB4):c.521+4C>T	not specified [RCV000516286]	uncertain significance	2	151876422	151876422	Human		name
13618445	CV516565	single nucleotide variant	NM_000726.5(CACNB4):c.147+3A>G	Idiopathic generalized epilepsy [RCV000634978]	uncertain significance	2	152098327	152098327	Human	2	name
13808714	CV576570	single nucleotide variant	NM_000726.5(CACNB4):c.521+5G>A	not provided [RCV000710985]	uncertain significance	2	151876421	151876421	Human		name
14704540	CV650869	single nucleotide variant	NM_000726.5(CACNB4):c.699+6A>G	Idiopathic generalized epilepsy [RCV000797728]	uncertain significance	2	151870525	151870525	Human	2	name
15124005	CV774593	single nucleotide variant	NM_000726.5(CACNB4):c.598+9T>G	Idiopathic generalized epilepsy [RCV001437285]	likely benign	2	151872408	151872408	Human	2	name
26899538	CV850799	single nucleotide variant	NM_000726.5(CACNB4):c.869-8C>A	Idiopathic generalized epilepsy [RCV001070992]	likely benign\|uncertain significance	2	151855383	151855383	Human	2	name
28880153	CV881201	single nucleotide variant	NM_000726.5(CACNB4):c.*5256G>A	Episodic ataxia type 5 [RCV001135801]	uncertain significance	2	151833863	151833863	Human	1	name
28880158	CV881202	single nucleotide variant	NM_000726.5(CACNB4):c.*5235T>C	Episodic ataxia type 5 [RCV001135802]	uncertain significance	2	151833884	151833884	Human	1	name
28880162	CV881203	single nucleotide variant	NM_000726.5(CACNB4):c.*5142C>T	Episodic ataxia type 5 [RCV001135803]	uncertain significance	2	151833977	151833977	Human	1	name
28909544	CV881204	single nucleotide variant	NM_000726.5(CACNB4):c.*5034G>A	Episodic ataxia type 5 [RCV001128817]	uncertain significance	2	151834085	151834085	Human	1	name
28909547	CV881205	single nucleotide variant	NM_000726.5(CACNB4):c.*5006A>G	Episodic ataxia type 5 [RCV001128818]	uncertain significance	2	151834113	151834113	Human	1	name
28909549	CV881206	single nucleotide variant	NM_000726.5(CACNB4):c.*4938G>A	Episodic ataxia type 5 [RCV001128819]	uncertain significance	2	151834181	151834181	Human	1	name
28870937	CV881207	single nucleotide variant	NM_000726.5(CACNB4):c.*4335G>A	Episodic ataxia type 5 [RCV001131470]	uncertain significance	2	151834784	151834784	Human	1	name
28870940	CV881208	single nucleotide variant	NM_000726.5(CACNB4):c.*4330T>C	Episodic ataxia type 5 [RCV001131471]	uncertain significance	2	151834789	151834789	Human	1	name
28870942	CV881209	single nucleotide variant	NM_000726.5(CACNB4):c.*4154C>T	Episodic ataxia type 5 [RCV001131472]	uncertain significance	2	151834965	151834965	Human	1	name
28876576	CV881210	single nucleotide variant	NM_000726.5(CACNB4):c.*4139A>C	Episodic ataxia type 5 [RCV001134454]	benign	2	151834980	151834980	Human	1	name
28876581	CV881211	single nucleotide variant	NM_000726.5(CACNB4):c.*4110A>G	Episodic ataxia type 5 [RCV001134455]	uncertain significance	2	151835009	151835009	Human	1	name
28876586	CV881212	single nucleotide variant	NM_000726.5(CACNB4):c.*3944A>T	Episodic ataxia type 5 [RCV001134456]	uncertain significance	2	151835175	151835175	Human	1	name
28876590	CV881213	single nucleotide variant	NM_000726.5(CACNB4):c.*3834G>C	Episodic ataxia type 5 [RCV001134457]	uncertain significance	2	151835285	151835285	Human	1	name
28876592	CV881214	single nucleotide variant	NM_000726.5(CACNB4):c.*3829C>T	Episodic ataxia type 5 [RCV001134458]	uncertain significance	2	151835290	151835290	Human	1	name
28880680	CV881215	single nucleotide variant	NM_000726.5(CACNB4):c.*3742C>T	Episodic ataxia type 5 [RCV001135922]	uncertain significance	2	151835377	151835377	Human	1	name
28880674	CV881216	single nucleotide variant	NM_000726.5(CACNB4):c.*3300G>A	Episodic ataxia type 5 [RCV001135923]	uncertain significance	2	151835819	151835819	Human	1	name
28909714	CV881217	single nucleotide variant	NM_000726.5(CACNB4):c.*3116A>G	Episodic ataxia type 5 [RCV001128928]	benign	2	151836003	151836003	Human	1	name
28909715	CV881218	single nucleotide variant	NM_000726.5(CACNB4):c.*2968C>A	Episodic ataxia type 5 [RCV001128929]	uncertain significance	2	151836151	151836151	Human	1	name
28871137	CV881219	single nucleotide variant	NM_000726.5(CACNB4):c.*2683T>C	Episodic ataxia type 5 [RCV001131586]	benign	2	151836436	151836436	Human	1	name
28871140	CV881220	single nucleotide variant	NM_000726.5(CACNB4):c.*2509G>A	Episodic ataxia type 5 [RCV001131587]	uncertain significance	2	151836610	151836610	Human	1	name
28871144	CV881221	single nucleotide variant	NM_000726.5(CACNB4):c.*2311T>C	Episodic ataxia type 5 [RCV001131588]	uncertain significance	2	151836808	151836808	Human	1	name
28871145	CV881222	single nucleotide variant	NM_000726.5(CACNB4):c.*2170C>T	Episodic ataxia type 5 [RCV001131589]	uncertain significance	2	151836949	151836949	Human	1	name
28873077	CV881223	single nucleotide variant	NM_000726.5(CACNB4):c.*2001C>G	Episodic ataxia type 5 [RCV001132637]	uncertain significance	2	151837118	151837118	Human	1	name
28880715	CV881224	single nucleotide variant	NM_000726.5(CACNB4):c.*1466T>G	Episodic ataxia type 5 [RCV001136010]	uncertain significance	2	151837653	151837653	Human	1	name
28880719	CV881225	single nucleotide variant	NM_000726.5(CACNB4):c.*1441C>T	Episodic ataxia type 5 [RCV001136011]	uncertain significance	2	151837678	151837678	Human	1	name
28909897	CV881226	single nucleotide variant	NM_000726.5(CACNB4):c.*1258A>G	Episodic ataxia type 5 [RCV001129043]	uncertain significance	2	151837861	151837861	Human	1	name
28909898	CV881227	single nucleotide variant	NM_000726.5(CACNB4):c.*1228C>A	Episodic ataxia type 5 [RCV001129044]	uncertain significance	2	151837891	151837891	Human	1	name
28909900	CV881228	single nucleotide variant	NM_000726.5(CACNB4):c.*1188C>G	Episodic ataxia type 5 [RCV001129045]	uncertain significance	2	151837931	151837931	Human	1	name
28870732	CV882814	single nucleotide variant	NM_000726.5(CACNB4):c.*6071T>G	Episodic ataxia type 5 [RCV001131336]	uncertain significance	2	151833048	151833048	Human	1	name
28876275	CV882815	single nucleotide variant	NM_000726.5(CACNB4):c.*5854A>G	Episodic ataxia type 5 [RCV001134337]	uncertain significance	2	151833265	151833265	Human	1	name
28876280	CV882816	single nucleotide variant	NM_000726.5(CACNB4):c.*5679G>A	Episodic ataxia type 5 [RCV001134338]	uncertain significance	2	151833440	151833440	Human	1	name
127297734	CV1111389	single nucleotide variant	NM_000726.5(CACNB4):c.1302+7T>C	Idiopathic generalized epilepsy [RCV001477694]	likely benign	2	151841896	151841896	Human	2	name
127330042	CV1132280	single nucleotide variant	NM_000726.5(CACNB4):c.1021-7C>T	Idiopathic generalized epilepsy [RCV001487833]	likely benign	2	151853550	151853550	Human	2	name
150333152	CV1164104	single nucleotide variant	NM_000726.5(CACNB4):c.64-225G>A	CACNB4-related disorder [RCV004536158]\|not provided [RCV001528714]	likely benign	2	152098638	152098638	Human	1	name , trait , alternate_id
150477527	CV1203199	single nucleotide variant	NM_000726.5(CACNB4):c.268-36C>T	not provided [RCV001589793]	likely benign	2	151880958	151880958	Human		name
150475615	CV1216691	single nucleotide variant	NM_000726.5(CACNB4):c.147+13G>A	not provided [RCV001615984]	benign	2	152098317	152098317	Human		name
8659133	CV134011	single nucleotide variant	NM_000726.5(CACNB4):c.1303-3T>C	Episodic ataxia type 5 [RCV000354232]\|Idiopathic generalized epilepsy [RCV000230955]\|Juvenile myoclonic epilepsy [RCV000275913]\|not provided [RCV003430668]\|not specified [RCV000116534]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	151839382	151839382	Human	4	name
8690403	CV140354	single nucleotide variant	NM_000726.5(CACNB4):c.599-15G>A	Episodic ataxia type 5 [RCV000286770]\|Juvenile myoclonic epilepsy [RCV000339479]\|not provided [RCV001573782]\|not specified [RCV000124113]	benign\|likely benign	2	151870876	151870876	Human	2	name
10397312	CV201266	single nucleotide variant	NM_000726.5(CACNB4):c.268-16A>G	not specified [RCV000186824]	benign	2	151880938	151880938	Human		name
401726052	CV2736044	single nucleotide variant	NM_000726.5(CACNB4):c.699+15T>G	not provided [RCV003312489]	likely benign	2	151870516	151870516	Human		name
401963963	CV2843421	single nucleotide variant	NM_000726.5(CACNB4):c.699+15T>C	not specified [RCV003479763]	likely benign	2	151870516	151870516	Human		name
401964129	CV2843509	single nucleotide variant	NM_000726.5(CACNB4):c.521+11A>G	not specified [RCV003479852]	likely benign	2	151876415	151876415	Human		name
12834149	CV365767	single nucleotide variant	NM_000726.5(CACNB4):c.618+20T>C	not specified [RCV000419855]	likely benign	2	151870822	151870822	Human		name
12839925	CV366012	single nucleotide variant	NM_000726.5(CACNB4):c.599-16C>T	not specified [RCV000429717]	benign	2	151870877	151870877	Human		name
12902466	CV405332	deletion	NM_000726.5(CACNB4):c.267+12del	not specified [RCV000487171]	likely benign	2	151883239	151883239	Human		name
13480030	CV440541	single nucleotide variant	NM_000726.5(CACNB4):c.64-238T>G	CACNB4-related disorder [RCV004541604]\|not provided [RCV000517151]\|not specified [RCV001644599]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	152098651	152098651	Human	1	name , trait , alternate_id
15108063	CV787092	single nucleotide variant	NM_000726.5(CACNB4):c.1021-9T>C	Idiopathic generalized epilepsy [RCV001463606]	likely benign	2	151853552	151853552	Human	2	name
8690406	CV140357	single nucleotide variant	NM_000726.5(CACNB4):c.1116+18T>C	Idiopathic generalized epilepsy [RCV002055447]\|not provided [RCV004707998]\|not specified [RCV000124116]	benign	2	151853430	151853430	Human	2	name
329352475	CV2476811	single nucleotide variant	NM_000726.5(CACNB4):c.699+239C>T	not provided [RCV003223043]	benign	2	151870292	151870292	Human		name
401917149	CV2819113	single nucleotide variant	NM_000726.5(CACNB4):c.700-469G>A	not provided [RCV003429303]	likely benign	2	151869704	151869704	Human		name
12848358	CV365541	single nucleotide variant	NM_000726.5(CACNB4):c.1020+16C>G	not provided [RCV004711059]\|not specified [RCV000445143]	likely benign	2	151855208	151855208	Human		name
150338410	CV1174102	single nucleotide variant	NM_000726.5(CACNB4):c.147+14751T>C	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV001542331]	uncertain significance	2	152083579	152083579	Human	1	name
155802636	CV1864452	single nucleotide variant	NM_000726.5(CACNB4):c.148-90290T>G	not provided [RCV002475405]	uncertain significance	2	151973660	151973660	Human		name
11651059	CV282985	deletion	NM_000726.5(CACNB4):c.442_443del	Hereditary episodic ataxia [RCV000388757]\|Juvenile myoclonic epilepsy [RCV000296784]	uncertain significance	2	151838676	151838677	Human	2	name
405290045	CV3214088	single nucleotide variant	NM_000726.5(CACNB4):c.148-88166G>C	CACNB4-related disorder [RCV004532028]	likely benign	2	151971536	151971536	Human		name , trait , alternate_id
21073510	CV792912	single nucleotide variant	NM_000726.5(CACNB4):c.148-90306C>T	not provided [RCV000991689]	uncertain significance	2	151973676	151973676	Human		name
41406059	CV982409	single nucleotide variant	NM_000726.5(CACNB4):c.148-90331T>G	not provided [RCV001288058]	uncertain significance	2	151973701	151973701	Human		name
155802622	CV1864449	microsatellite	NM_000726.5(CACNB4):c.1021-14TCT[2]	not provided [RCV002475402]	uncertain significance	2	151853549	151853551	Human		name
11593153	CV284892	deletion	NM_000726.5(CACNB4):c.1910_1911del	Hereditary episodic ataxia [RCV000403459]\|Juvenile myoclonic epilepsy [RCV000346074]	likely benign	2	151837208	151837209	Human	2	name
10049354	CV190285	single nucleotide variant	NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)	CACNB4-related disorder [RCV004535183]\|Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV000515346]\|Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV000660363]\|Episodic ataxia type 5 [RCV000286296]\|Idiopathic generalized epilepsy [RCV001079683 ... (more) ]\|Juvenile myoclonic epilepsy [RCV000341315]\|not provided [RCV000724000]\|not specified [RCV000195021]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	152099007	152099007	Human	6	name , trait , alternate_id
10049356	CV190287	single nucleotide variant	NM_000726.5(CACNB4):c.36G>A (p.Ala12=)	CACNB4-related disorder [RCV004539595]\|Idiopathic generalized epilepsy [RCV001412999]\|not provided [RCV000173167]\|not specified [RCV004700529]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	152098976	152098976	Human	4	name , trait , alternate_id
10395620	CV201268	single nucleotide variant	NM_000726.5(CACNB4):c.45G>A (p.Pro15=)	Idiopathic generalized epilepsy [RCV000634989]\|not specified [RCV000186826]	benign\|likely benign	2	152098967	152098967	Human	2	name
10395627	CV201270	single nucleotide variant	NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)	Episodic ataxia type 5 [RCV000376086]\|Idiopathic generalized epilepsy [RCV000526121]\|Juvenile myoclonic epilepsy [RCV000321619]\|not provided [RCV000186842]\|not specified [RCV004020261]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	152099004	152099004	Human	4	name
11638662	CV274040	single nucleotide variant	NM_000726.5(CACNB4):c.33C>G (p.Thr11=)	not provided [RCV000307711]	uncertain significance	2	152098979	152098979	Human		name
12844562	CV365772	single nucleotide variant	NM_000726.5(CACNB4):c.54C>A (p.Pro18=)	CACNB4-related disorder [RCV004539802]\|Idiopathic generalized epilepsy [RCV001481746]\|not provided [RCV000991331]\|not specified [RCV000438212]	benign\|likely benign	2	152098958	152098958	Human	4	name , trait , alternate_id
15145788	CV685855	single nucleotide variant	NM_000726.5(CACNB4):c.48C>T (p.His16=)	Idiopathic generalized epilepsy [RCV000866151]	likely benign	2	152098964	152098964	Human	2	name
21073519	CV792913	deletion	NM_000726.5(CACNB4):c.64-244_64-241del	not provided [RCV000991691]	uncertain significance	2	152098654	152098657	Human		name
155700344	CV1836723	single nucleotide variant	NM_000726.5(CACNB4):c.144A>G (p.Arg48=)	not specified [RCV004057896]	likely benign	2	152098333	152098333	Human		name
155802617	CV1864448	single nucleotide variant	NM_000726.5(CACNB4):c.138C>T (p.Ile46=)	not provided [RCV002475401]	uncertain significance	2	152098339	152098339	Human		name
11589953	CV284935	single nucleotide variant	NM_000726.5(CACNB4):c.177G>A (p.Pro59=)	Hereditary episodic ataxia [RCV000369450]\|Juvenile myoclonic epilepsy [RCV000314801]\|not provided [RCV004710851]	likely benign	2	151883341	151883341	Human	2	name
12833895	CV365765	single nucleotide variant	NM_000726.5(CACNB4):c.222A>T (p.Arg74=)	Idiopathic generalized epilepsy [RCV001509604]\|not specified [RCV000419374]	benign\|likely benign	2	151883296	151883296	Human	2	name
13520097	CV492005	single nucleotide variant	NM_000726.5(CACNB4):c.288C>T (p.Ala96=)	Idiopathic generalized epilepsy [RCV001477894]\|not provided [RCV000598376]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	151880902	151880902	Human	2	name
15143598	CV707770	single nucleotide variant	NM_000726.5(CACNB4):c.156G>A (p.Ala52=)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV002505459]\|Idiopathic generalized epilepsy [RCV001452018]	likely benign	2	151883362	151883362	Human	3	name
41406060	CV982408	single nucleotide variant	NM_000726.5(CACNB4):c.186C>T (p.Ser62=)	Idiopathic generalized epilepsy [RCV001403190]\|not specified [RCV001288059]	benign\|likely benign	2	151883332	151883332	Human	2	name
126913852	CV1040624	single nucleotide variant	NM_000726.5(CACNB4):c.621G>A (p.Thr207=)	Idiopathic generalized epilepsy [RCV001370262]	uncertain significance	2	151870609	151870609	Human	2	name
127266281	CV1089893	single nucleotide variant	NM_000726.5(CACNB4):c.930T>C (p.Val310=)	Idiopathic generalized epilepsy [RCV001440204]	likely benign	2	151855314	151855314	Human	2	name
127237166	CV1089894	single nucleotide variant	NM_000726.5(CACNB4):c.465C>T (p.Leu155=)	Idiopathic generalized epilepsy [RCV001433487]	likely benign	2	151876482	151876482	Human	2	name
127331942	CV1111390	single nucleotide variant	NM_000726.5(CACNB4):c.582A>T (p.Ala194=)	Idiopathic generalized epilepsy [RCV001471872]	likely benign	2	151872433	151872433	Human	2	name
127315944	CV1132281	single nucleotide variant	NM_000726.5(CACNB4):c.780A>C (p.Thr260=)	Idiopathic generalized epilepsy [RCV001502875]	likely benign	2	151860799	151860799	Human	2	name
150435829	CV1246515	single nucleotide variant	NM_000726.5(CACNB4):c.681G>A (p.Pro227=)	not specified [RCV001665514]	likely benign	2	151870549	151870549	Human		name
150520241	CV1289375	single nucleotide variant	NM_000726.5(CACNB4):c.669G>A (p.Val223=)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV001728126]	uncertain significance	2	151870561	151870561	Human	1	name
8659134	CV134012	single nucleotide variant	NM_000726.5(CACNB4):c.762T>A (p.Ile254=)	Episodic ataxia type 5 [RCV000287797]\|Idiopathic generalized epilepsy [RCV000476404]\|Juvenile myoclonic epilepsy [RCV000384571]\|not provided [RCV001610399]\|not specified [RCV000116535]	benign\|likely benign	2	151860817	151860817	Human	4	name
8690402	CV140353	single nucleotide variant	NM_000726.5(CACNB4):c.324C>T (p.Asp108=)	Idiopathic generalized epilepsy [RCV000233757]\|not specified [RCV000124112]	benign	2	151880866	151880866	Human	2	name
8690405	CV140356	single nucleotide variant	NM_000726.5(CACNB4):c.771G>A (p.Thr257=)	CACNB4-related disorder [RCV004530075]\|Idiopathic generalized epilepsy [RCV000863388]\|not provided [RCV001795223]\|not specified [RCV000124115]	benign\|likely benign	2	151860808	151860808	Human	4	name , trait , alternate_id
10395619	CV201260	single nucleotide variant	NM_000726.5(CACNB4):c.792T>C (p.Ser264=)	CACNB4-related disorder [RCV004539735]\|Idiopathic generalized epilepsy [RCV000227520]\|not specified [RCV000186825]	benign	2	151860787	151860787	Human	4	name , trait , alternate_id
10395628	CV201269	single nucleotide variant	NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)	CACNB4-related disorder [RCV004537572]\|Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV000515246]\|Episodic ataxia type 5 [RCV000271279]\|Idiopathic generalized epilepsy [RCV000471900]\|Juvenile myoclonic epilepsy [RCV000384411]\|not provided [RCV00205418 ... (more) 9]\|not specified [RCV000186843]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	152098968	152098968	Human	6	name , trait , alternate_id
10408431	CV206871	single nucleotide variant	NM_000726.5(CACNB4):c.50C>G (p.Ser17Cys)	not specified [RCV000193993]	uncertain significance	2	152098962	152098962	Human		name
11657890	CV284519	single nucleotide variant	NM_000726.5(CACNB4):c.642T>C (p.Asp214=)	Episodic ataxia type 5 [RCV000378640]\|Juvenile myoclonic epilepsy [RCV000345086]	uncertain significance	2	151870588	151870588	Human	2	name
596942585	CV3544168	single nucleotide variant	NM_000726.5(CACNB4):c.651G>A (p.Pro217=)	not specified [RCV004800159]	likely benign	2	151870579	151870579	Human		name
12835181	CV365547	single nucleotide variant	NM_000726.5(CACNB4):c.315C>T (p.Gly105=)	Idiopathic generalized epilepsy [RCV000537074]\|not specified [RCV000421247]	likely benign\|uncertain significance	2	151880875	151880875	Human	2	name
597649603	CV3730393	single nucleotide variant	NM_000726.5(CACNB4):c.663G>A (p.Pro221=)	not specified [RCV005000682]	benign	2	151870567	151870567	Human		name
616933366	CV4011452	single nucleotide variant	NM_000726.5(CACNB4):c.696C>T (p.Tyr232=)	not specified [RCV005407533]	likely benign	2	151870534	151870534	Human		name
13477252	CV440540	single nucleotide variant	NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)	CACNB4-related disorder [RCV004535669]\|Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV000764271]\|Idiopathic generalized epilepsy [RCV000685212]\|not specified [RCV000516317]	likely benign\|uncertain significance	2	152098386	152098386	Human	5	name , trait , alternate_id
13483038	CV440542	single nucleotide variant	NM_000726.5(CACNB4):c.34G>T (p.Ala12Ser)	Episodic ataxia type 5 [RCV001131842]\|Idiopathic generalized epilepsy [RCV001036427]\|not specified [RCV000518041]	uncertain significance	2	152098978	152098978	Human	3	name
13618533	CV516470	single nucleotide variant	NM_000726.5(CACNB4):c.984A>G (p.Ala328=)	Idiopathic generalized epilepsy [RCV000635000]	likely benign	2	151855260	151855260	Human	2	name
15137242	CV685854	single nucleotide variant	NM_000726.5(CACNB4):c.438T>C (p.Cys146=)	Idiopathic generalized epilepsy [RCV000864635]	likely benign	2	151876509	151876509	Human	2	name
21073516	CV792914	single nucleotide variant	NM_000726.5(CACNB4):c.40G>A (p.Gly14Arg)	Idiopathic generalized epilepsy [RCV001052489]\|not provided [RCV000991690]	likely benign\|uncertain significance	2	152098972	152098972	Human	2	name
26887034	CV824976	single nucleotide variant	NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg)	Episodic ataxia type 5 [RCV001131841]\|Idiopathic generalized epilepsy [RCV001044614]	benign\|uncertain significance	2	152098972	152098972	Human	3	name
28867368	CV881237	single nucleotide variant	NM_000726.5(CACNB4):c.399C>T (p.Asn133=)	Episodic ataxia type 5 [RCV001129161]	uncertain significance	2	151876548	151876548	Human	1	name
38456788	CV930866	single nucleotide variant	NM_000726.5(CACNB4):c.52C>T (p.Pro18Ser)	Idiopathic generalized epilepsy [RCV001210930]	uncertain significance	2	152098960	152098960	Human	2	name
126754909	CV1003275	single nucleotide variant	NM_000726.5(CACNB4):c.1107A>G (p.Gln369=)	Idiopathic generalized epilepsy [RCV001316814]	likely benign\|uncertain significance	2	151853457	151853457	Human	2	name
126755977	CV1003276	single nucleotide variant	NM_000726.5(CACNB4):c.1083G>A (p.Leu361=)	Idiopathic generalized epilepsy [RCV001327871]	likely benign\|uncertain significance	2	151853481	151853481	Human	2	name
127279475	CV1089892	single nucleotide variant	NM_000726.5(CACNB4):c.1272A>G (p.Ser424=)	Idiopathic generalized epilepsy [RCV001445820]	likely benign	2	151841933	151841933	Human	2	name
150334674	CV1164103	single nucleotide variant	NM_000726.5(CACNB4):c.272A>T (p.Lys91Ile)	not provided [RCV001529797]	uncertain significance	2	151880918	151880918	Human		name
150435819	CV1246513	single nucleotide variant	NM_000726.5(CACNB4):c.280G>A (p.Ala94Thr)	not provided [RCV001665512]	uncertain significance	2	151880910	151880910	Human		name
8659132	CV134010	single nucleotide variant	NM_000726.5(CACNB4):c.1239G>A (p.Leu413=)	Episodic ataxia type 5 [RCV000327378]\|Idiopathic generalized epilepsy [RCV001512191]\|Juvenile myoclonic epilepsy [RCV000274587]\|not provided [RCV004707946]\|not specified [RCV000116533]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	151841966	151841966	Human	4	name
8690407	CV140358	single nucleotide variant	NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)	CACNB4-related disorder [RCV004530076]\|Episodic ataxia type 5 [RCV000262971]\|Idiopathic generalized epilepsy [RCV000477503]\|Juvenile myoclonic epilepsy [RCV000297125]\|not provided [RCV001705904]\|not specified [RCV000186610]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	2	151839269	151839269	Human	5	name , trait , alternate_id
155688883	CV1826608	single nucleotide variant	NM_000726.5(CACNB4):c.1419C>T (p.Arg473=)	not specified [RCV004057225]	likely benign	2	151839263	151839263	Human		name
10050156	CV191507	single nucleotide variant	NM_000726.5(CACNB4):c.1437G>A (p.Gln479=)	Idiopathic generalized epilepsy [RCV001496634]\|not provided [RCV000724232]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	151839245	151839245	Human	2	name
10395629	CV201265	single nucleotide variant	NM_000726.3(CACNB4):c.289G>T (p.Val97Leu)	not specified [RCV000186844]	uncertain significance	2	151880901	151880901	Human		name
10395621	CV201267	single nucleotide variant	NM_000726.5(CACNB4):c.208C>T (p.Arg70Trp)	not provided [RCV000186827]	uncertain significance	2	151883310	151883310	Human		name
11580428	CV284503	single nucleotide variant	NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=)	Hereditary episodic ataxia [RCV000333150]\|Juvenile myoclonic epilepsy [RCV000385304]	uncertain significance	2	151841927	151841927	Human	2	name
11646948	CV284520	single nucleotide variant	NM_000726.5(CACNB4):c.187G>C (p.Asp63His)	Episodic ataxia type 5 [RCV000273758]\|Juvenile myoclonic epilepsy [RCV000369830]	uncertain significance	2	151883331	151883331	Human	2	name
404977241	CV2849746	single nucleotide variant	NM_000726.5(CACNB4):c.164A>G (p.Tyr55Cys)	Episodic ataxia type 5 [RCV003486030]	uncertain significance	2	151883354	151883354	Human	1	name
408380773	CV3501266	single nucleotide variant	NM_000726.5(CACNB4):c.190G>A (p.Val64Ile)	not provided [RCV004727355]	uncertain significance	2	151883328	151883328	Human		name
596947228	CV3548778	single nucleotide variant	NM_000726.5(CACNB4):c.1233C>A (p.Thr411=)	not provided [RCV004811102]	likely benign	2	151841972	151841972	Human		name
12741657	CV361167	deletion	NM_000726.5(CACNB4):c.610del (p.Gln204fs)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV000414849]	pathogenic	2	151870850	151870850	Human	1	name
597763020	CV3637583	single nucleotide variant	NM_000726.5(CACNB4):c.263C>T (p.Ala88Val)	not specified [RCV004895292]	uncertain significance	2	151883255	151883255	Human		name
12846002	CV365539	single nucleotide variant	NM_000726.5(CACNB4):c.1033T>C (p.Leu345=)	Idiopathic generalized epilepsy [RCV000918636]\|not specified [RCV000440824]	benign\|likely benign	2	151853531	151853531	Human	2	name
12837846	CV365762	single nucleotide variant	NM_000726.5(CACNB4):c.1026A>G (p.Leu342=)	not specified [RCV000425875]	likely benign	2	151853538	151853538	Human		name
12891240	CV391431	single nucleotide variant	NM_000726.5(CACNB4):c.1509T>C (p.His503=)	Idiopathic generalized epilepsy [RCV000476220]	likely benign\|uncertain significance	2	151839173	151839173	Human	2	name
12899126	CV405333	single nucleotide variant	NM_000726.5(CACNB4):c.209G>A (p.Arg70Gln)	not provided [RCV000479494]	uncertain significance	2	151883309	151883309	Human		name
13485607	CV440536	single nucleotide variant	NM_000726.5(CACNB4):c.1191G>T (p.Ala397=)	not specified [RCV000518773]	benign	2	151842014	151842014	Human		name
13481497	CV440537	single nucleotide variant	NM_000726.5(CACNB4):c.1191G>A (p.Ala397=)	CACNB4-related disorder [RCV004541603]\|Idiopathic generalized epilepsy [RCV000902849]\|not specified [RCV000517595]	benign\|likely benign	2	151842014	151842014	Human	4	name , trait , alternate_id
13618543	CV516467	single nucleotide variant	NM_000726.5(CACNB4):c.1554T>C (p.His518=)	Idiopathic generalized epilepsy [RCV000634992]	likely benign	2	151839128	151839128	Human	2	name
13618529	CV516468	single nucleotide variant	NM_000726.5(CACNB4):c.1536T>C (p.Tyr512=)	Idiopathic generalized epilepsy [RCV000635002]	likely benign	2	151839146	151839146	Human	2	name
13618542	CV516580	single nucleotide variant	NM_000726.5(CACNB4):c.1500C>T (p.Tyr500=)	Idiopathic generalized epilepsy [RCV000634993]	likely benign	2	151839182	151839182	Human	2	name
15137165	CV780901	single nucleotide variant	NM_000726.5(CACNB4):c.1146T>C (p.Asn382=)	Idiopathic generalized epilepsy [RCV000982241]	likely benign	2	151842059	151842059	Human	2	name
150447364	CV1015174	single nucleotide variant	NM_000726.5(CACNB4):c.615A>T (p.Lys205Asn)	Spastic ataxia [RCV001647152]	likely pathogenic	2	151870845	151870845	Human	2	name
126774462	CV1023772	single nucleotide variant	NM_000726.5(CACNB4):c.311G>A (p.Cys104Tyr)	Idiopathic generalized epilepsy [RCV001347257]	uncertain significance	2	151880879	151880879	Human	2	name
126911793	CV1040623	single nucleotide variant	NM_000726.5(CACNB4):c.757A>G (p.Arg253Gly)	Idiopathic generalized epilepsy [RCV001369399]	uncertain significance	2	151869178	151869178	Human	2	name
126910794	CV1040625	single nucleotide variant	NM_000726.5(CACNB4):c.616G>T (p.Val206Leu)	Idiopathic generalized epilepsy [RCV001368928]	uncertain significance	2	151870844	151870844	Human	2	name
126913670	CV1040626	single nucleotide variant	NM_000726.5(CACNB4):c.316G>A (p.Ala106Thr)	Idiopathic generalized epilepsy [RCV001370191]	uncertain significance	2	151880874	151880874	Human	2	name
150550624	CV1308314	single nucleotide variant	NM_000726.5(CACNB4):c.937G>A (p.Ala313Thr)	not provided [RCV001753305]	uncertain significance	2	151855307	151855307	Human		name
151663666	CV1334132	single nucleotide variant	NM_000726.5(CACNB4):c.959C>T (p.Ala320Val)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV001839306]	uncertain significance	2	151855285	151855285	Human	1	name
8690404	CV140355	single nucleotide variant	NM_000726.5(CACNB4):c.655A>G (p.Met219Val)	CACNB4-related disorder [RCV004530074]\|Idiopathic generalized epilepsy [RCV000634991]\|not provided [RCV001727582]\|not specified [RCV000124114]	benign\|likely benign	2	151870575	151870575	Human	4	name , trait , alternate_id
155802613	CV1864447	single nucleotide variant	NM_000726.5(CACNB4):c.468A>C (p.Arg156Ser)	not provided [RCV002475400]	uncertain significance	2	151876479	151876479	Human		name
155955689	CV1936322	single nucleotide variant	NM_000726.5(CACNB4):c.869C>T (p.Ala290Val)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV004813208]\|not provided [RCV002511986]	uncertain significance	2	151855375	151855375	Human	1	name
10395623	CV201259	single nucleotide variant	NM_000726.5(CACNB4):c.839T>C (p.Ile280Thr)	not provided [RCV000186833]	uncertain significance	2	151860740	151860740	Human		name
10397315	CV201261	single nucleotide variant	NM_000726.5(CACNB4):c.656T>C (p.Met219Thr)	not provided [RCV000186832]	uncertain significance	2	151870574	151870574	Human		name
10397314	CV201262	single nucleotide variant	NM_000726.5(CACNB4):c.517G>A (p.Gly173Arg)	not provided [RCV000724955]	uncertain significance	2	151876430	151876430	Human		name
10397313	CV201263	single nucleotide variant	NM_000726.5(CACNB4):c.371A>G (p.Asp124Gly)	not provided [RCV000186830]	uncertain significance	2	151880819	151880819	Human		name
10395622	CV201264	single nucleotide variant	NM_000726.5(CACNB4):c.313G>A (p.Gly105Ser)	not provided [RCV000186829]	uncertain significance	2	151880877	151880877	Human		name
8597591	CV22647	single nucleotide variant	NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)	CACNB4-related disorder [RCV004532307]\|Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV000008046]\|Episodic ataxia type 5 [RCV000008047]\|Idiopathic generalized epilepsy [RCV001081010]\|Juvenile myoclonic epilepsy [RCV000298698]\|not provided [RCV00048768 ... (more) 6]	pathogenic\|risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	151880879	151880879	Human	6	name , trait , alternate_id
156081045	CV2337635	single nucleotide variant	NM_000726.5(CACNB4):c.691G>A (p.Gly231Ser)	not specified [RCV004181197]	uncertain significance	2	151870539	151870539	Human		name
401874376	CV2773926	single nucleotide variant	NM_000726.5(CACNB4):c.443T>C (p.Ile148Thr)	not specified [RCV004358351]	uncertain significance	2	151876504	151876504	Human		name
11657047	CV282988	single nucleotide variant	NM_000726.5(CACNB4):c.337G>T (p.Val113Phe)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV003989524]\|Episodic ataxia type 5 [RCV000396028]\|Juvenile myoclonic epilepsy [RCV000338383]	uncertain significance	2	151880853	151880853	Human	3	name
401962535	CV2845157	single nucleotide variant	NM_000726.5(CACNB4):c.969A>G (p.Ile323Met)	not provided [RCV003482618]\|not specified [RCV004604957]	uncertain significance	2	151855275	151855275	Human		name
405752770	CV3302336	single nucleotide variant	NM_000726.5(CACNB4):c.484A>G (p.Ile162Val)	not specified [RCV004432367]	uncertain significance	2	151876463	151876463	Human		name
407501019	CV3428274	single nucleotide variant	NM_000726.5(CACNB4):c.434G>A (p.Gly145Asp)	not specified [RCV004607279]	uncertain significance	2	151876513	151876513	Human		name
407497190	CV3428275	single nucleotide variant	NM_000726.5(CACNB4):c.545C>T (p.Ser182Leu)	not specified [RCV004606313]	uncertain significance	2	151872470	151872470	Human		name
407495598	CV3496547	single nucleotide variant	NM_000726.5(CACNB4):c.299A>T (p.Asn100Ile)	not provided [RCV004696748]	uncertain significance	2	151880891	151880891	Human		name
597674636	CV3730719	single nucleotide variant	NM_000726.5(CACNB4):c.367A>G (p.Lys123Glu)	not provided [RCV004997606]	uncertain significance	2	151880823	151880823	Human		name
598212294	CV3946653	single nucleotide variant	NM_000726.5(CACNB4):c.650C>T (p.Pro217Leu)	not specified [RCV005316148]	uncertain significance	2	151870580	151870580	Human		name
13483128	CV440538	single nucleotide variant	NM_000726.5(CACNB4):c.857G>A (p.Arg286Gln)	not specified [RCV000518070]	uncertain significance	2	151860722	151860722	Human		name
13472566	CV449032	single nucleotide variant	NM_000726.5(CACNB4):c.770C>T (p.Thr257Met)	Idiopathic generalized epilepsy [RCV000547409]	uncertain significance	2	151860809	151860809	Human	2	name
13813307	CV557637	single nucleotide variant	NM_000726.5(CACNB4):c.356C>T (p.Ser119Phe)	Idiopathic generalized epilepsy [RCV000690063]\|not provided [RCV003482298]	uncertain significance	2	151880834	151880834	Human	2	name
13802193	CV558809	single nucleotide variant	NM_000726.5(CACNB4):c.988A>G (p.Ile330Val)	Idiopathic generalized epilepsy [RCV000698202]	uncertain significance	2	151855256	151855256	Human	2	name
13818985	CV558811	single nucleotide variant	NM_000726.5(CACNB4):c.967A>G (p.Ile323Val)	Idiopathic generalized epilepsy [RCV000694060]	uncertain significance	2	151855277	151855277	Human	2	name
13808712	CV576569	single nucleotide variant	NM_000726.5(CACNB4):c.571A>T (p.Thr191Ser)	Idiopathic generalized epilepsy [RCV001315143]\|not provided [RCV000710986]	uncertain significance	2	151872444	151872444	Human	2	name
14727475	CV628681	single nucleotide variant	NM_000726.5(CACNB4):c.809T>C (p.Val270Ala)	Idiopathic generalized epilepsy [RCV000816094]	uncertain significance	2	151860770	151860770	Human	2	name
14717982	CV628682	single nucleotide variant	NM_000726.5(CACNB4):c.640G>A (p.Asp214Asn)	Idiopathic generalized epilepsy [RCV000812074]	uncertain significance	2	151870590	151870590	Human	2	name
26888758	CV824974	single nucleotide variant	NM_000726.5(CACNB4):c.815A>G (p.Asn272Ser)	Idiopathic generalized epilepsy [RCV001045385]	uncertain significance	2	151860764	151860764	Human	2	name
26923714	CV824975	single nucleotide variant	NM_000726.5(CACNB4):c.495A>T (p.Glu165Asp)	Idiopathic generalized epilepsy [RCV001064488]	uncertain significance	2	151876452	151876452	Human	2	name
28867365	CV881236	single nucleotide variant	NM_000726.5(CACNB4):c.529A>G (p.Ser177Gly)	Episodic ataxia type 5 [RCV001129160]	uncertain significance	2	151872486	151872486	Human	1	name
38477819	CV930863	single nucleotide variant	NM_000726.5(CACNB4):c.628A>G (p.Ile210Val)	Idiopathic generalized epilepsy [RCV001205260]	uncertain significance	2	151870602	151870602	Human	2	name
38478733	CV930864	single nucleotide variant	NM_000726.5(CACNB4):c.620C>T (p.Thr207Met)	Idiopathic generalized epilepsy [RCV001205674]\|not provided [RCV003334037]\|not specified [RCV004690013]	uncertain significance	2	151870610	151870610	Human	2	name
38472770	CV930865	single nucleotide variant	NM_000726.5(CACNB4):c.503G>A (p.Arg168Lys)	Idiopathic generalized epilepsy [RCV001203110]	uncertain significance	2	151876444	151876444	Human	2	name
41406062	CV982407	single nucleotide variant	NM_000726.5(CACNB4):c.331G>A (p.Val111Met)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV004770002]\|not provided [RCV001288060]\|not specified [RCV004035555]	likely pathogenic\|uncertain significance	2	151880859	151880859	Human	1	name
126744917	CV1003274	single nucleotide variant	NM_000726.5(CACNB4):c.1358G>T (p.Arg453Leu)	Idiopathic generalized epilepsy [RCV001325822]\|not specified [RCV004035179]	uncertain significance	2	151839324	151839324	Human	2	name
126736822	CV1023770	single nucleotide variant	NM_000726.5(CACNB4):c.1489C>A (p.Gln497Lys)	Idiopathic generalized epilepsy [RCV001350274]	uncertain significance	2	151839193	151839193	Human	2	name
150336361	CV1165536	single nucleotide variant	NM_000726.5(CACNB4):c.1504C>A (p.Pro502Thr)	not provided [RCV001531923]	uncertain significance	2	151839178	151839178	Human		name
150529147	CV1288690	single nucleotide variant	NM_000726.5(CACNB4):c.1271C>T (p.Ser424Leu)	not provided [RCV001727158]	uncertain significance	2	151841934	151841934	Human		name
151820496	CV1336848	single nucleotide variant	NM_000726.5(CACNB4):c.1199G>A (p.Arg400His)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV002049747]	not provided	2	151842006	151842006	Human		name
155802610	CV1864446	single nucleotide variant	NM_000726.5(CACNB4):c.1030C>T (p.Arg344Trp)	not provided [RCV002475399]	uncertain significance	2	151853534	151853534	Human		name
10395631	CV201250	single nucleotide variant	NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln)	Idiopathic generalized epilepsy [RCV000811960]\|not provided [RCV000186846]	uncertain significance	2	151839132	151839132	Human	2	name
10395626	CV201251	single nucleotide variant	NM_000726.5(CACNB4):c.1549C>T (p.Arg517Ter)	Idiopathic generalized epilepsy [RCV000812419]\|not provided [RCV000186840]	uncertain significance	2	151839133	151839133	Human	2	name
10395625	CV201252	single nucleotide variant	NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV003233493]\|Idiopathic generalized epilepsy [RCV000459626]\|not provided [RCV000186839]	conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	151839327	151839327	Human	3	name
10395630	CV201253	single nucleotide variant	NM_000726.5(CACNB4):c.1348A>G (p.Ile450Val)	not provided [RCV000186845]	uncertain significance	2	151839334	151839334	Human		name
10397319	CV201254	single nucleotide variant	NM_000726.5(CACNB4):c.1343C>G (p.Ser448Cys)	not provided [RCV000186838]	uncertain significance	2	151839339	151839339	Human		name
10397318	CV201255	single nucleotide variant	NM_000726.4(CACNB4):c.1331C>T (p.Ser444Phe)	not specified [RCV000186837]	uncertain significance	2	151839351	151839351	Human		name
10397317	CV201256	single nucleotide variant	NM_000726.5(CACNB4):c.1280C>A (p.Pro427His)	not provided [RCV000186836]	uncertain significance	2	151841925	151841925	Human		name
10395624	CV201257	single nucleotide variant	NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)	Idiopathic generalized epilepsy [RCV001043213]\|not provided [RCV000186835]\|not specified [RCV001640274]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	151853533	151853533	Human	2	name
8597590	CV22646	single nucleotide variant	NM_000726.5(CACNB4):c.1444C>T (p.Arg482Ter)	Epilepsy, juvenile myoclonic, susceptibility to, 6 [RCV000008045]	risk factor	2	151839238	151839238	Human	1	name
156000013	CV2287334	single nucleotide variant	NM_000726.5(CACNB4):c.1330T>C (p.Ser444Pro)	not specified [RCV004146956]	uncertain significance	2	151839352	151839352	Human		name
329389585	CV2445138	single nucleotide variant	NM_000726.5(CACNB4):c.1238T>C (p.Leu413Pro)	not specified [RCV004263781]	uncertain significance	2	151841967	151841967	Human		name
401884314	CV2762855	single nucleotide variant	NM_000726.5(CACNB4):c.1015C>T (p.Pro339Ser)	not specified [RCV004340401]	uncertain significance	2	151855229	151855229	Human		name
401903724	CV2800089	single nucleotide variant	NM_000726.5(CACNB4):c.1440T>G (p.His480Gln)	CACNB4-related disorder [RCV004536780]	uncertain significance	2	151839242	151839242	Human		name , trait , alternate_id
405752753	CV3302333	single nucleotide variant	NM_000726.5(CACNB4):c.1181A>G (p.Tyr394Cys)	not specified [RCV004432364]	uncertain significance	2	151842024	151842024	Human		name
405752759	CV3302334	single nucleotide variant	NM_000726.5(CACNB4):c.1262C>T (p.Thr421Met)	not specified [RCV004432365]	uncertain significance	2	151841943	151841943	Human		name
405752765	CV3302335	single nucleotide variant	NM_000726.5(CACNB4):c.1321A>G (p.Ser441Gly)	not specified [RCV004432366]	uncertain significance	2	151839361	151839361	Human		name
407497194	CV3428276	single nucleotide variant	NM_000726.5(CACNB4):c.1508A>G (p.His503Arg)	not specified [RCV004606314]	uncertain significance	2	151839174	151839174	Human		name
12743219	CV361539	single nucleotide variant	NM_000726.5(CACNB4):c.1504C>G (p.Pro502Ala)	not provided [RCV000416182]	uncertain significance	2	151839178	151839178	Human		name
598209783	CV3894976	single nucleotide variant	NM_000726.5(CACNB4):c.1294G>A (p.Gly432Arg)	Epilepsy [RCV005358441]	uncertain significance	2	151841911	151841911	Human	2	name
12887459	CV391382	single nucleotide variant	NM_000726.5(CACNB4):c.1198C>T (p.Arg400Cys)	Idiopathic generalized epilepsy [RCV000469097]	uncertain significance	2	151842007	151842007	Human	2	name
12890840	CV391612	single nucleotide variant	NM_000726.5(CACNB4):c.1553A>G (p.His518Arg)	Idiopathic generalized epilepsy [RCV000475419]	uncertain significance	2	151839129	151839129	Human	2	name
598202644	CV3946652	single nucleotide variant	NM_000726.5(CACNB4):c.1097A>C (p.Lys366Thr)	not specified [RCV005314498]	uncertain significance	2	151853467	151853467	Human		name
598212301	CV3946654	single nucleotide variant	NM_000726.5(CACNB4):c.1496C>T (p.Thr499Ile)	not specified [RCV005316149]	uncertain significance	2	151839186	151839186	Human		name
13484725	CV440534	single nucleotide variant	NM_000726.5(CACNB4):c.1470A>T (p.Glu490Asp)	Epilepsy, idiopathic generalized, susceptibility to, 9 [RCV003147498]\|Episodic ataxia type 5 [RCV003147497]\|not specified [RCV000518547]	uncertain significance	2	151839212	151839212	Human	2	name
13479646	CV440535	single nucleotide variant	NM_000726.5(CACNB4):c.1417C>T (p.Arg473Cys)	Idiopathic generalized epilepsy [RCV001306262]\|not specified [RCV000517049]	uncertain significance	2	151839265	151839265	Human	2	name
13475215	CV448750	single nucleotide variant	NM_000726.5(CACNB4):c.1318C>G (p.His440Asp)	Idiopathic generalized epilepsy [RCV000548611]\|not specified [RCV004023821]	uncertain significance	2	151839364	151839364	Human	2	name
13522196	CV493390	single nucleotide variant	NM_000726.5(CACNB4):c.1496C>G (p.Thr499Ser)	Idiopathic generalized epilepsy [RCV001364275]\|not provided [RCV000591423]	uncertain significance	2	151839186	151839186	Human	2	name
13618446	CV516594	single nucleotide variant	NM_000726.5(CACNB4):c.1027C>G (p.Gln343Glu)	Idiopathic generalized epilepsy [RCV000634979]\|not specified [RCV004025452]	uncertain significance	2	151853537	151853537	Human	2	name
13804381	CV557582	single nucleotide variant	NM_000726.5(CACNB4):c.1213A>C (p.Thr405Pro)	Idiopathic generalized epilepsy [RCV000685231]\|not provided [RCV000997239]	uncertain significance	2	151841992	151841992	Human	2	name
13808651	CV559292	single nucleotide variant	NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln)	Episodic ataxia type 5 [RCV001136144]\|Idiopathic generalized epilepsy [RCV000687371]\|not specified [RCV004897654]	benign\|uncertain significance	2	151839372	151839372	Human	3	name
13802902	CV559294	single nucleotide variant	NM_000726.5(CACNB4):c.1061G>A (p.Ser354Asn)	Idiopathic generalized epilepsy [RCV000698742]	uncertain significance	2	151853503	151853503	Human	2	name
14693180	CV620035	single nucleotide variant	NM_000726.5(CACNB4):c.1519G>T (p.Gly507Ter)	CACNB4-related disorder [RCV000778567]	uncertain significance	2	151839163	151839163	Human		name , trait , alternate_id
14738996	CV628678	single nucleotide variant	NM_000726.5(CACNB4):c.1456C>A (p.Pro486Thr)	Idiopathic generalized epilepsy [RCV000821157]	uncertain significance	2	151839226	151839226	Human	2	name
14731888	CV628679	single nucleotide variant	NM_000726.5(CACNB4):c.1418G>A (p.Arg473His)	Idiopathic generalized epilepsy [RCV000801615]\|not provided [RCV003482310]	uncertain significance	2	151839264	151839264	Human	2	name
14728395	CV628680	single nucleotide variant	NM_000726.5(CACNB4):c.1109G>C (p.Cys370Ser)	Idiopathic generalized epilepsy [RCV000800021]	uncertain significance	2	151853455	151853455	Human	2	name
21073505	CV792911	single nucleotide variant	NM_000726.5(CACNB4):c.1460T>C (p.Leu487Pro)	not provided [RCV000991688]	uncertain significance	2	151839222	151839222	Human		name
26920278	CV824972	single nucleotide variant	NM_000726.5(CACNB4):c.1373C>A (p.Ser458Tyr)	Idiopathic generalized epilepsy [RCV001059821]	uncertain significance	2	151839309	151839309	Human	2	name
26896873	CV824973	single nucleotide variant	NM_000726.5(CACNB4):c.1309C>T (p.Arg437Ter)	Idiopathic generalized epilepsy [RCV001048276]	uncertain significance	2	151839373	151839373	Human	2	name
28881070	CV881234	single nucleotide variant	NM_000726.5(CACNB4):c.1535A>G (p.Tyr512Cys)	Episodic ataxia type 5 [RCV001136142]\|not provided [RCV004998661]	uncertain significance	2	151839147	151839147	Human	1	name
28881076	CV881235	single nucleotide variant	NM_000726.5(CACNB4):c.1517G>A (p.Arg506Gln)	Episodic ataxia type 5 [RCV001136143]	uncertain significance	2	151839165	151839165	Human	1	name
38473410	CV922298	single nucleotide variant	NM_000726.5(CACNB4):c.1403G>A (p.Arg468Gln)	Idiopathic generalized epilepsy [RCV001214370]	uncertain significance	2	151839279	151839279	Human	2	name
38486465	CV942294	single nucleotide variant	NM_000726.5(CACNB4):c.1514A>G (p.Asn505Ser)	Idiopathic generalized epilepsy [RCV001237213]	uncertain significance	2	151839168	151839168	Human	2	name
126751163	CV987994	single nucleotide variant	NM_000726.5(CACNB4):c.1445G>A (p.Arg482Gln)	Idiopathic generalized epilepsy [RCV001306983]	uncertain significance	2	151839237	151839237	Human	2	name
12740848	CV359301	microsatellite	NM_000726.5(CACNB4):c.537TTC[2] (p.Ser183del)	Idiopathic generalized epilepsy [RCV000795541]\|not provided [RCV000413298]	uncertain significance	2	151872470	151872472	Human		name
13811258	CV557580	microsatellite	NM_000726.5(CACNB4):c.1467AGA[1] (p.Glu490del)	Idiopathic generalized epilepsy [RCV000702715]	uncertain significance	2	151839210	151839212	Human		name

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