Kcna2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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530 records found for search term Kcna2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150414765	CV1196442	single nucleotide variant	NM_004974.4(KCNA2):c.*10A>G	not provided [RCV001575105]	likely benign	1	110603273	110603273	Human		name
150478929	CV1240584	single nucleotide variant	NM_004974.4(KCNA2):c.*36C>G	not provided [RCV001652459]	benign	1	110603247	110603247	Human		name
150436598	CV1286395	single nucleotide variant	NM_004974.4(KCNA2):c.-27C>T	not provided [RCV001724471]	benign	1	110604809	110604809	Human		name
407573077	CV3498878	single nucleotide variant	NM_004974.4(KCNA2):c.*15C>T	not specified [RCV004699847]	uncertain significance	1	110603268	110603268	Human		name
150416911	CV1196443	single nucleotide variant	NM_004974.4(KCNA2):c.-126C>T	not provided [RCV001576078]	likely benign	1	110604908	110604908	Human		name
150439857	CV1201609	single nucleotide variant	NM_004974.4(KCNA2):c.*846G>A	not provided [RCV001583421]	likely benign	1	110602437	110602437	Human		name
150465143	CV1240190	single nucleotide variant	NM_004974.4(KCNA2):c.*950G>A	not provided [RCV001649951]	benign	1	110602333	110602333	Human		name
150338869	CV1167154	deletion	NM_004974.4(KCNA2):c.*1045del	not provided [RCV001533814]\|not specified [RCV004594312]	benign	1	110602238	110602238	Human		name
150423128	CV1182749	single nucleotide variant	NM_004974.4(KCNA2):c.*1495T>C	not provided [RCV001554909]	likely benign	1	110601788	110601788	Human		name
150507634	CV1229138	single nucleotide variant	NM_004974.4(KCNA2):c.*1485C>T	not provided [RCV001636009]	benign	1	110601798	110601798	Human		name
150507822	CV1229184	single nucleotide variant	NM_004974.4(KCNA2):c.*9298G>A	not provided [RCV001636055]	benign	1	110593985	110593985	Human		name
150442363	CV1233685	single nucleotide variant	NM_004974.4(KCNA2):c.*1489T>C	not provided [RCV001645373]	benign	1	110601794	110601794	Human		name
150431225	CV1235377	single nucleotide variant	NM_004974.4(KCNA2):c.*1244T>C	not provided [RCV001641747]\|not specified [RCV004594442]	benign	1	110602039	110602039	Human		name
150489095	CV1237589	single nucleotide variant	NM_004974.4(KCNA2):c.*1455C>T	not provided [RCV001654438]	benign	1	110601828	110601828	Human		name
150440502	CV1246583	single nucleotide variant	NM_004974.4(KCNA2):c.*9294C>T	not provided [RCV001666236]\|not specified [RCV004594470]	benign	1	110593989	110593989	Human		name
150449003	CV1253627	single nucleotide variant	NM_004974.4(KCNA2):c.*9440C>G	not provided [RCV001667555]	benign	1	110593843	110593843	Human		name
150468766	CV1259546	single nucleotide variant	NM_004974.4(KCNA2):c.*1493T>C	not provided [RCV001683846]	benign	1	110601790	110601790	Human		name
150485088	CV1273943	single nucleotide variant	NM_004974.4(KCNA2):c.*1379A>C	not provided [RCV001698639]\|not specified [RCV004594534]	benign	1	110601904	110601904	Human		name
150480813	CV1279583	single nucleotide variant	NM_004974.4(KCNA2):c.*1491T>C	not provided [RCV001714721]	benign	1	110601792	110601792	Human		name
150528408	CV1288296	single nucleotide variant	NM_004974.4(KCNA2):c.*1209A>G	not provided [RCV001726764]	uncertain significance	1	110602074	110602074	Human		name
155645309	CV1710747	single nucleotide variant	NM_004974.4(KCNA2):c.*9361G>A	Developmental and epileptic encephalopathy, 32 [RCV002294563]	uncertain significance	1	110593922	110593922	Human	1	name
156025007	CV2242190	single nucleotide variant	NM_004974.4(KCNA2):c.*1150G>A	Inborn genetic diseases [RCV002757631]	uncertain significance	1	110602133	110602133	Human	1	name
329365099	CV2440037	single nucleotide variant	NM_004974.4(KCNA2):c.*1215G>A	Inborn genetic diseases [RCV003207079]	uncertain significance	1	110602068	110602068	Human	1	name
401928130	CV2809066	single nucleotide variant	NM_004974.4(KCNA2):c.*1228G>C	not provided [RCV003406664]	uncertain significance	1	110602055	110602055	Human		name
405869619	CV2832109	deletion	NM_004974.4(KCNA2):c.*1150del	not provided [RCV004573120]	pathogenic	1	110602133	110602133	Human		name
407467823	CV3448412	single nucleotide variant	NM_004974.4(KCNA2):c.*1254G>T	Inborn genetic diseases [RCV004636021]	uncertain significance	1	110602029	110602029	Human	1	name
12843098	CV364351	single nucleotide variant	NM_004974.4(KCNA2):c.*1245G>A	not provided [RCV001696794]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	110602038	110602038	Human		name
598128655	CV3887860	single nucleotide variant	NM_004974.4(KCNA2):c.*9383T>C	not provided [RCV005244034]	uncertain significance	1	110593900	110593900	Human		name
598259393	CV3980132	single nucleotide variant	NM_004974.4(KCNA2):c.*9384G>T	Inborn genetic diseases [RCV005347409]	uncertain significance	1	110593899	110593899	Human	1	name
13810123	CV576390	single nucleotide variant	NM_004974.4(KCNA2):c.*1204C>T	not provided [RCV000712054]	benign	1	110602079	110602079	Human		name
150459460	CV1202927	microsatellite	NM_004974.4(KCNA2):c.*1451TA[3]	not provided [RCV001586580]	likely benign	1	110601828	110601829	Human		name
150496976	CV1208678	single nucleotide variant	NM_004974.4(KCNA2):c.-163-91T>A	not provided [RCV001593894]	likely benign	1	110605036	110605036	Human		name
150419832	CV1179083	microsatellite	NM_004974.4(KCNA2):c.*1455CA[19]	not provided [RCV001551250]	likely benign	1	110601794	110601795	Human		name
150510892	CV1229286	single nucleotide variant	NM_004974.4(KCNA2):c.-164+107T>C	not provided [RCV001637214]	benign	1	110605284	110605284	Human		name
150494468	CV1238871	microsatellite	NM_004974.4(KCNA2):c.*1455CA[18]	not provided [RCV001655415]	benign	1	110601794	110601795	Human		name
150503917	CV1240650	microsatellite	NM_004974.4(KCNA2):c.*1455CA[16]	not provided [RCV001657493]	benign	1	110601795	110601796	Human		name
150481078	CV1258849	microsatellite	NM_004974.4(KCNA2):c.*1488AT[10]	not provided [RCV001685979]	benign	1	110601777	110601778	Human		name
150487335	CV1262722	microsatellite	NM_004974.4(KCNA2):c.*1455CA[15]	not provided [RCV001687120]	benign	1	110601795	110601798	Human		name
127234891	CV1087791	single nucleotide variant	NM_004974.4(KCNA2):c.9G>A (p.Val3=)	Developmental and epileptic encephalopathy, 32 [RCV001432981]	likely benign	1	110604774	110604774	Human	1	name
150426765	CV1186032	deletion	NM_004974.4(KCNA2):c.1485_1490del	not provided [RCV001559993]	likely benign	1	110601793	110601798	Human		name
150421802	CV1192678	deletion	NM_004974.4(KCNA2):c.1487_1490del	not provided [RCV001570698]	likely benign	1	110601793	110601796	Human		name
150470674	CV1269895	single nucleotide variant	NM_001204269.2(KCNA2):c.-495-645G>T	not provided [RCV001695182]	benign	1	110606367	110606367	Human		name
404987555	CV3135483	single nucleotide variant	NM_004974.4(KCNA2):c.15C>T (p.Thr5=)	Developmental and epileptic encephalopathy, 32 [RCV003826778]	likely benign	1	110604768	110604768	Human	1	name
15104627	CV761056	single nucleotide variant	NM_004974.4(KCNA2):c.12C>T (p.Ala4=)	Developmental and epileptic encephalopathy, 32 [RCV001504160]	likely benign	1	110604771	110604771	Human	1	name
127279734	CV1066021	single nucleotide variant	NM_004974.4(KCNA2):c.87C>T (p.His29=)	Developmental and epileptic encephalopathy, 32 [RCV001409307]	likely benign	1	110604696	110604696	Human	1	name
150411785	CV1189452	insertion	NM_004974.4(KCNA2):c.1490_1491insCA	not provided [RCV001566716]	likely benign	1	110601792	110601793	Human		name
405193757	CV2918190	single nucleotide variant	NM_004974.4(KCNA2):c.69T>C (p.Tyr23=)	Developmental and epileptic encephalopathy, 32 [RCV003590262]	likely benign	1	110604714	110604714	Human	1	name
597923677	CV3840026	single nucleotide variant	NM_004974.4(KCNA2):c.72C>T (p.Asp24=)	Developmental and epileptic encephalopathy, 32 [RCV005184765]	likely benign	1	110604711	110604711	Human	1	name
15150500	CV718085	single nucleotide variant	NM_004974.4(KCNA2):c.30C>T (p.Asp10=)	Developmental and epileptic encephalopathy, 32 [RCV000879395]\|Inborn genetic diseases [RCV002320061]\|not provided [RCV003411874]	likely benign	1	110604753	110604753	Human	2	name
127245945	CV1087790	single nucleotide variant	NM_004974.4(KCNA2):c.261C>T (p.Ala87=)	Developmental and epileptic encephalopathy, 32 [RCV001424432]	likely benign	1	110604522	110604522	Human	1	name
127332168	CV1109280	single nucleotide variant	NM_004974.4(KCNA2):c.282A>G (p.Ser94=)	Developmental and epileptic encephalopathy, 32 [RCV001472070]	likely benign	1	110604501	110604501	Human	1	name
127336033	CV1109281	single nucleotide variant	NM_004974.4(KCNA2):c.144A>G (p.Leu48=)	Developmental and epileptic encephalopathy, 32 [RCV001474724]	likely benign	1	110604639	110604639	Human	1	name
127317050	CV1130196	single nucleotide variant	NM_004974.4(KCNA2):c.234C>T (p.Phe78=)	Developmental and epileptic encephalopathy, 32 [RCV001503262]	likely benign	1	110604549	110604549	Human	1	name
152150618	CV1559513	single nucleotide variant	NM_004974.4(KCNA2):c.151T>C (p.Leu51=)	Developmental and epileptic encephalopathy, 32 [RCV002220755]	likely benign	1	110604632	110604632	Human	1	name
152121576	CV1641485	single nucleotide variant	NM_004974.4(KCNA2):c.165A>G (p.Pro55=)	Developmental and epileptic encephalopathy, 32 [RCV002198122]	likely benign	1	110604618	110604618	Human	1	name
156373940	CV1901979	single nucleotide variant	NM_004974.4(KCNA2):c.204C>T (p.Tyr68=)	Developmental and epileptic encephalopathy, 32 [RCV003092699]	likely benign	1	110604579	110604579	Human	1	name
156370587	CV1920178	single nucleotide variant	NM_004974.4(KCNA2):c.267G>A (p.Leu89=)	Developmental and epileptic encephalopathy, 32 [RCV002603141]	likely benign	1	110604516	110604516	Human	1	name
156013657	CV1986144	single nucleotide variant	NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)	Autism spectrum disorder [RCV003126257]\|Developmental and epileptic encephalopathy, 32 [RCV002636352]	likely benign\|uncertain significance	1	110604767	110604767	Human	3	name
155957474	CV2087084	single nucleotide variant	NM_004974.4(KCNA2):c.150C>A (p.Thr50=)	Developmental and epileptic encephalopathy, 32 [RCV002862686]	likely benign	1	110604633	110604633	Human	1	name
405187798	CV2865101	single nucleotide variant	NM_004974.4(KCNA2):c.216C>T (p.Leu72=)	Developmental and epileptic encephalopathy, 32 [RCV003589583]	likely benign	1	110604567	110604567	Human	1	name
405186426	CV2908149	single nucleotide variant	NM_004974.4(KCNA2):c.23C>A (p.Pro8Gln)	Developmental and epileptic encephalopathy, 32 [RCV003589425]	uncertain significance	1	110604760	110604760	Human	1	name
405120013	CV3036760	single nucleotide variant	NM_004974.4(KCNA2):c.171C>T (p.Thr57=)	Developmental and epileptic encephalopathy, 32 [RCV003752864]	likely benign	1	110604612	110604612	Human	1	name
405119590	CV3041269	single nucleotide variant	NM_004974.4(KCNA2):c.231T>C (p.Phe77=)	Developmental and epileptic encephalopathy, 32 [RCV003752808]	likely benign	1	110604552	110604552	Human	1	name
405181913	CV3147614	single nucleotide variant	NM_004974.4(KCNA2):c.246C>T (p.Arg82=)	Developmental and epileptic encephalopathy, 32 [RCV003842516]	likely benign	1	110604537	110604537	Human	1	name
407427035	CV3409244	single nucleotide variant	NM_004974.4(KCNA2):c.20A>T (p.Asp7Val)	Developmental and epileptic encephalopathy, 32 [RCV004585176]	uncertain significance	1	110604763	110604763	Human	1	name
597870590	CV3768197	single nucleotide variant	NM_004974.4(KCNA2):c.285G>A (p.Gly95=)	Developmental and epileptic encephalopathy, 32 [RCV005122576]	likely benign	1	110604498	110604498	Human	1	name
597910312	CV3770350	single nucleotide variant	NM_004974.4(KCNA2):c.25G>A (p.Ala9Thr)	Developmental and epileptic encephalopathy, 32 [RCV005113651]	uncertain significance	1	110604758	110604758	Human	1	name
597918417	CV3811317	single nucleotide variant	NM_004974.4(KCNA2):c.210C>T (p.Asp70=)	Developmental and epileptic encephalopathy, 32 [RCV005155352]	likely benign	1	110604573	110604573	Human	1	name
597914282	CV3851085	single nucleotide variant	NM_004974.4(KCNA2):c.153A>G (p.Leu51=)	Developmental and epileptic encephalopathy, 32 [RCV005204053]	likely benign	1	110604630	110604630	Human	1	name
13490580	CV446982	single nucleotide variant	NM_004974.4(KCNA2):c.276C>T (p.Tyr92=)	Developmental and epileptic encephalopathy, 32 [RCV003753132]	likely benign	1	110604507	110604507	Human	1	name
13488774	CV447047	single nucleotide variant	NM_004974.4(KCNA2):c.156C>T (p.Ala52=)	Developmental and epileptic encephalopathy, 32 [RCV000532563]	likely benign	1	110604627	110604627	Human	1	name
13492401	CV447122	single nucleotide variant	NM_004974.4(KCNA2):c.213C>T (p.Pro71=)	Developmental and epileptic encephalopathy, 32 [RCV000557421]\|Inborn genetic diseases [RCV002315030]\|not provided [RCV001675934]	benign\|likely benign	1	110604570	110604570	Human	2	name
13829123	CV578708	single nucleotide variant	NM_004974.4(KCNA2):c.168G>A (p.Glu56=)	Developmental and epileptic encephalopathy, 32 [RCV001505862]\|Inborn genetic diseases [RCV002314544]	likely benign	1	110604615	110604615	Human	2	name
15108258	CV718084	single nucleotide variant	NM_004974.4(KCNA2):c.292T>C (p.Leu98=)	Developmental and epileptic encephalopathy, 32 [RCV000893633]\|not provided [RCV001548409]	likely benign	1	110604491	110604491	Human	1	name
15164486	CV745563	single nucleotide variant	NM_004974.4(KCNA2):c.120A>G (p.Ser40=)	Developmental and epileptic encephalopathy, 32 [RCV002541534]	likely benign	1	110604663	110604663	Human	1	name
15190042	CV761055	single nucleotide variant	NM_004974.4(KCNA2):c.273C>T (p.Tyr91=)	Developmental and epileptic encephalopathy, 32 [RCV002542262]\|Inborn genetic diseases [RCV002434238]	likely benign	1	110604510	110604510	Human	2	name
126747695	CV986803	single nucleotide variant	NM_004974.4(KCNA2):c.23C>T (p.Pro8Leu)	Developmental and epileptic encephalopathy, 32 [RCV001306291]	uncertain significance	1	110604760	110604760	Human	1	name
126766074	CV1002022	single nucleotide variant	NM_004974.4(KCNA2):c.43C>G (p.Leu15Val)	Developmental and epileptic encephalopathy, 32 [RCV001320298]	uncertain significance	1	110604740	110604740	Human	1	name
127275128	CV1066020	single nucleotide variant	NM_004974.4(KCNA2):c.522G>C (p.Leu174=)	Developmental and epileptic encephalopathy, 32 [RCV001406619]	likely benign	1	110604261	110604261	Human	1	name
127273280	CV1066022	single nucleotide variant	NM_004974.4(KCNA2):c.79G>A (p.Ala27Thr)	Developmental and epileptic encephalopathy, 32 [RCV001405974]	likely benign	1	110604704	110604704	Human	1	name
127265608	CV1087789	single nucleotide variant	NM_004974.4(KCNA2):c.991C>T (p.Leu331=)	Developmental and epileptic encephalopathy, 32 [RCV001440023]	likely benign	1	110603792	110603792	Human	1	name
127336940	CV1109276	single nucleotide variant	NM_004974.4(KCNA2):c.789C>A (p.Ile263=)	Developmental and epileptic encephalopathy, 32 [RCV001475310]	likely benign	1	110603994	110603994	Human	1	name
127293859	CV1109277	single nucleotide variant	NM_004974.4(KCNA2):c.552A>G (p.Thr184=)	Developmental and epileptic encephalopathy, 32 [RCV001459307]	likely benign	1	110604231	110604231	Human	1	name
127308836	CV1109278	single nucleotide variant	NM_004974.4(KCNA2):c.546G>A (p.Leu182=)	Developmental and epileptic encephalopathy, 32 [RCV001463398]	likely benign	1	110604237	110604237	Human	1	name
127293973	CV1109279	single nucleotide variant	NM_004974.4(KCNA2):c.315C>T (p.Pro105=)	Developmental and epileptic encephalopathy, 32 [RCV001459326]	likely benign	1	110604468	110604468	Human	1	name
127320668	CV1130193	single nucleotide variant	NM_004974.4(KCNA2):c.792C>A (p.Ile264=)	Developmental and epileptic encephalopathy, 32 [RCV001484307]\|KCNA2-related disorder [RCV004550244]	likely benign	1	110603991	110603991	Human	1	name , trait , alternate_id
127290673	CV1130194	single nucleotide variant	NM_004974.4(KCNA2):c.711C>T (p.Phe237=)	Developmental and epileptic encephalopathy, 32 [RCV001496039]	likely benign	1	110604072	110604072	Human	1	name
127322816	CV1130195	single nucleotide variant	NM_004974.4(KCNA2):c.366G>A (p.Ala122=)	Developmental and epileptic encephalopathy, 32 [RCV001505230]	likely benign	1	110604417	110604417	Human	1	name
127297535	CV1153178	single nucleotide variant	NM_004974.4(KCNA2):c.555G>A (p.Leu185=)	Developmental and epileptic encephalopathy, 32 [RCV001512914]\|not provided [RCV004809661]	benign\|likely benign	1	110604228	110604228	Human	1	name
150474827	CV1202155	single nucleotide variant	NM_004974.4(KCNA2):c.363A>G (p.Glu121=)	Developmental and epileptic encephalopathy, 32 [RCV002072308]\|not provided [RCV001589398]	likely benign	1	110604420	110604420	Human	1	name
150481740	CV1209843	single nucleotide variant	NM_004974.4(KCNA2):c.915C>T (p.Phe305=)	Developmental and epileptic encephalopathy, 32 [RCV002579495]\|not provided [RCV001590541]	likely benign	1	110603868	110603868	Human	1	name
152083721	CV1525372	single nucleotide variant	NM_004974.4(KCNA2):c.65C>G (p.Thr22Ser)	Developmental and epileptic encephalopathy, 32 [RCV002131158]	likely benign	1	110604718	110604718	Human	1	name
152042213	CV1537925	single nucleotide variant	NM_004974.4(KCNA2):c.840C>T (p.Asp280=)	Developmental and epileptic encephalopathy, 32 [RCV002165837]	likely benign	1	110603943	110603943	Human	1	name
152141819	CV1538113	single nucleotide variant	NM_004974.4(KCNA2):c.909G>A (p.Arg303=)	Developmental and epileptic encephalopathy, 32 [RCV002219475]	likely benign	1	110603874	110603874	Human	1	name
152139089	CV1549636	single nucleotide variant	NM_004974.4(KCNA2):c.582C>T (p.Asp194=)	Developmental and epileptic encephalopathy, 32 [RCV002156528]	likely benign	1	110604201	110604201	Human	1	name
152035405	CV1590385	single nucleotide variant	NM_004974.4(KCNA2):c.957G>A (p.Gln319=)	Developmental and epileptic encephalopathy, 32 [RCV002205497]	likely benign	1	110603826	110603826	Human	1	name
152046725	CV1591287	single nucleotide variant	NM_004974.4(KCNA2):c.885C>T (p.Val295=)	Developmental and epileptic encephalopathy, 32 [RCV002188910]	likely benign	1	110603898	110603898	Human	1	name
152165582	CV1611391	single nucleotide variant	NM_004974.4(KCNA2):c.852C>A (p.Gly284=)	Developmental and epileptic encephalopathy, 32 [RCV002141747]	likely benign	1	110603931	110603931	Human	1	name
152147949	CV1656284	single nucleotide variant	NM_004974.4(KCNA2):c.933C>T (p.Ser311=)	Developmental and epileptic encephalopathy, 32 [RCV002220343]	likely benign	1	110603850	110603850	Human	1	name
155707450	CV1798636	single nucleotide variant	NM_004974.4(KCNA2):c.468A>G (p.Pro156=)	Inborn genetic diseases [RCV002335234]	likely benign	1	110604315	110604315	Human	1	name
155735411	CV1801641	single nucleotide variant	NM_004974.4(KCNA2):c.462A>G (p.Glu154=)	Inborn genetic diseases [RCV002330387]	likely benign	1	110604321	110604321	Human	1	name
156091666	CV1895597	single nucleotide variant	NM_004974.4(KCNA2):c.537C>T (p.Ser179=)	Developmental and epileptic encephalopathy, 32 [RCV003080243]	likely benign	1	110604246	110604246	Human	1	name
156283784	CV1896972	single nucleotide variant	NM_004974.4(KCNA2):c.684C>T (p.Leu228=)	Developmental and epileptic encephalopathy, 32 [RCV003087211]	likely benign	1	110604099	110604099	Human	1	name
156442340	CV1938566	single nucleotide variant	NM_004974.4(KCNA2):c.808C>T (p.Leu270=)	Developmental and epileptic encephalopathy, 32 [RCV003112681]	likely benign	1	110603975	110603975	Human	1	name
156230192	CV1959127	single nucleotide variant	NM_004974.4(KCNA2):c.663T>G (p.Pro221=)	Developmental and epileptic encephalopathy, 32 [RCV002596779]	likely benign	1	110604120	110604120	Human	1	name
156187301	CV2020723	single nucleotide variant	NM_004974.4(KCNA2):c.480G>T (p.Gly160=)	Developmental and epileptic encephalopathy, 32 [RCV002710968]	likely benign	1	110604303	110604303	Human	1	name
156100862	CV2051104	single nucleotide variant	NM_004974.4(KCNA2):c.534C>A (p.Val178=)	Developmental and epileptic encephalopathy, 32 [RCV002824554]	likely benign	1	110604249	110604249	Human	1	name
155942444	CV2068338	deletion	NM_004974.4(KCNA2):c.181del (p.Asp61fs)	Developmental and epileptic encephalopathy, 32 [RCV002839503]	pathogenic	1	110604602	110604602	Human	1	name
155951557	CV2076416	single nucleotide variant	NM_004974.4(KCNA2):c.888C>T (p.Ile296=)	Developmental and epileptic encephalopathy, 32 [RCV002862374]	likely benign	1	110603895	110603895	Human	1	name
155903285	CV2083976	single nucleotide variant	NM_004974.4(KCNA2):c.939T>C (p.Gly313=)	Developmental and epileptic encephalopathy, 32 [RCV002857992]	likely benign	1	110603844	110603844	Human	1	name
156032676	CV2156544	single nucleotide variant	NM_004974.4(KCNA2):c.61G>A (p.Asp21Asn)	Developmental and epileptic encephalopathy, 32 [RCV003018740]	uncertain significance	1	110604722	110604722	Human	1	name
156076630	CV2160424	single nucleotide variant	NM_004974.4(KCNA2):c.531T>A (p.Ile177=)	Developmental and epileptic encephalopathy, 32 [RCV003020211]	likely benign	1	110604252	110604252	Human	1	name
401928138	CV2809069	single nucleotide variant	NM_004974.4(KCNA2):c.345T>C (p.Phe115=)	not provided [RCV003406667]	likely benign	1	110604438	110604438	Human		name
405183207	CV2854041	single nucleotide variant	NM_004974.4(KCNA2):c.468A>T (p.Pro156=)	Developmental and epileptic encephalopathy, 32 [RCV003589004]	likely benign	1	110604315	110604315	Human	1	name
405198585	CV2885164	single nucleotide variant	NM_004974.4(KCNA2):c.53A>G (p.His18Arg)	Developmental and epileptic encephalopathy, 32 [RCV003590923]	uncertain significance	1	110604730	110604730	Human	1	name
405185804	CV2907798	single nucleotide variant	NM_004974.4(KCNA2):c.86A>C (p.His29Pro)	Developmental and epileptic encephalopathy, 32 [RCV003589354]	uncertain significance	1	110604697	110604697	Human	1	name
405192512	CV2914543	single nucleotide variant	NM_004974.4(KCNA2):c.384A>G (p.Glu128=)	Developmental and epileptic encephalopathy, 32 [RCV003590121]	likely benign	1	110604399	110604399	Human	1	name
405199828	CV2927795	single nucleotide variant	NM_004974.4(KCNA2):c.71A>C (p.Asp24Ala)	Developmental and epileptic encephalopathy, 32 [RCV003591075]	uncertain significance	1	110604712	110604712	Human	1	name
405123996	CV2938182	single nucleotide variant	NM_004974.4(KCNA2):c.687C>T (p.Cys229=)	Developmental and epileptic encephalopathy, 32 [RCV003753402]	likely benign	1	110604096	110604096	Human	1	name
405124555	CV2948753	single nucleotide variant	NM_004974.4(KCNA2):c.960C>G (p.Thr320=)	Developmental and epileptic encephalopathy, 32 [RCV003753455]	likely benign	1	110603823	110603823	Human	1	name
405134594	CV2996458	single nucleotide variant	NM_004974.4(KCNA2):c.38C>T (p.Ala13Val)	Developmental and epileptic encephalopathy, 32 [RCV003754544]	uncertain significance	1	110604745	110604745	Human	1	name
405135978	CV3005909	single nucleotide variant	NM_004974.4(KCNA2):c.74C>T (p.Pro25Leu)	Developmental and epileptic encephalopathy, 32 [RCV003754710]	uncertain significance	1	110604709	110604709	Human	1	name
405136438	CV3012354	single nucleotide variant	NM_004974.4(KCNA2):c.918G>A (p.Lys306=)	Developmental and epileptic encephalopathy, 32 [RCV003754663]	likely benign	1	110603865	110603865	Human	1	name
405135666	CV3015498	single nucleotide variant	NM_004974.4(KCNA2):c.717G>A (p.Val239=)	Developmental and epileptic encephalopathy, 32 [RCV003754680]	likely benign	1	110604066	110604066	Human	1	name
405126065	CV3069468	single nucleotide variant	NM_004974.4(KCNA2):c.553T>C (p.Leu185=)	Developmental and epileptic encephalopathy, 32 [RCV003753661]	likely benign	1	110604230	110604230	Human	1	name
405128040	CV3075188	single nucleotide variant	NM_004974.4(KCNA2):c.891G>C (p.Arg297=)	Developmental and epileptic encephalopathy, 32 [RCV003753865]	likely benign	1	110603892	110603892	Human	1	name
405127241	CV3076501	single nucleotide variant	NM_004974.4(KCNA2):c.340C>A (p.Arg114=)	Developmental and epileptic encephalopathy, 32 [RCV003753798]	likely benign	1	110604443	110604443	Human	1	name
405037668	CV3130924	single nucleotide variant	NM_004974.4(KCNA2):c.747C>T (p.Gly249=)	Developmental and epileptic encephalopathy, 32 [RCV003831142]	likely benign	1	110604036	110604036	Human	1	name
402478586	CV3170181	single nucleotide variant	NM_004974.4(KCNA2):c.982T>C (p.Leu328=)	Developmental and epileptic encephalopathy, 32 [RCV003875569]	likely benign	1	110603801	110603801	Human	1	name
405289533	CV3205234	single nucleotide variant	NM_004974.4(KCNA2):c.50G>A (p.Gly17Glu)	KCNA2-related disorder [RCV004552871]	uncertain significance	1	110604733	110604733	Human		name , trait , alternate_id
405267003	CV3220221	single nucleotide variant	NM_004974.4(KCNA2):c.432G>A (p.Glu144=)	KCNA2-related disorder [RCV004554443]	likely benign	1	110604351	110604351	Human		name , trait , alternate_id
596948233	CV3549314	single nucleotide variant	NM_004974.4(KCNA2):c.963C>T (p.Leu321=)	not provided [RCV004812134]	likely benign	1	110603820	110603820	Human		name
597832417	CV3751375	single nucleotide variant	NM_004974.4(KCNA2):c.588T>C (p.His196=)	Developmental and epileptic encephalopathy, 32 [RCV005084921]	likely benign	1	110604195	110604195	Human	1	name
597962332	CV3753679	single nucleotide variant	NM_004974.4(KCNA2):c.543T>C (p.Cys181=)	Developmental and epileptic encephalopathy, 32 [RCV005081983]	likely benign	1	110604240	110604240	Human	1	name
597948475	CV3759169	single nucleotide variant	NM_004974.4(KCNA2):c.438G>A (p.Gln146=)	Developmental and epileptic encephalopathy, 32 [RCV005078966]	likely benign	1	110604345	110604345	Human	1	name
597952393	CV3765634	single nucleotide variant	NM_004974.4(KCNA2):c.889C>A (p.Arg297=)	Developmental and epileptic encephalopathy, 32 [RCV005121278]	uncertain significance	1	110603894	110603894	Human	1	name
597949117	CV3772279	single nucleotide variant	NM_004974.4(KCNA2):c.516G>A (p.Val172=)	Developmental and epileptic encephalopathy, 32 [RCV005120598]	likely benign	1	110604267	110604267	Human	1	name
597847851	CV3792868	single nucleotide variant	NM_004974.4(KCNA2):c.969C>T (p.Ala323=)	Developmental and epileptic encephalopathy, 32 [RCV005145004]	likely benign	1	110603814	110603814	Human	1	name
13445870	CV437817	single nucleotide variant	NM_004974.4(KCNA2):c.372G>A (p.Glu124=)	Developmental and epileptic encephalopathy, 32 [RCV001080076]\|not provided [RCV000512962]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	110604411	110604411	Human	1	name
13493853	CV447049	single nucleotide variant	NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys)	Developmental and epileptic encephalopathy, 32 [RCV000558487]\|Inborn genetic diseases [RCV002367957]	likely pathogenic\|uncertain significance	1	110604715	110604715	Human	2	name
13470166	CV447088	single nucleotide variant	NM_004974.4(KCNA2):c.318A>G (p.Leu106=)	Developmental and epileptic encephalopathy, 32 [RCV000545948]	likely benign	1	110604465	110604465	Human	1	name
13625227	CV514987	single nucleotide variant	NM_004974.4(KCNA2):c.807C>T (p.Thr269=)	Developmental and epileptic encephalopathy, 32 [RCV000653139]\|Inborn genetic diseases [RCV002317895]\|not provided [RCV001613430]	benign\|likely benign	1	110603976	110603976	Human	2	name
13810121	CV576391	single nucleotide variant	NM_004974.4(KCNA2):c.618C>T (p.Ser206=)	Developmental and epileptic encephalopathy, 32 [RCV001087339]\|not provided [RCV000712053]	likely benign	1	110604165	110604165	Human	1	name
13830551	CV578707	single nucleotide variant	NM_004974.4(KCNA2):c.630C>T (p.Ile210=)	Developmental and epileptic encephalopathy, 32 [RCV002067061]\|Inborn genetic diseases [RCV002318146]\|not provided [RCV003411657]	likely benign	1	110604153	110604153	Human	2	name
14740564	CV626577	single nucleotide variant	NM_004974.4(KCNA2):c.46C>T (p.Pro16Ser)	Developmental and epileptic encephalopathy, 32 [RCV000821856]	uncertain significance	1	110604737	110604737	Human	1	name
14739951	CV626578	single nucleotide variant	NM_004974.4(KCNA2):c.35C>T (p.Ala12Val)	Developmental and epileptic encephalopathy, 32 [RCV000821582]\|Inborn genetic diseases [RCV002537507]\|not provided [RCV001575914]	likely benign\|uncertain significance	1	110604748	110604748	Human	2	name
15142130	CV690335	single nucleotide variant	NM_004974.4(KCNA2):c.972C>T (p.Ser324=)	Developmental and epileptic encephalopathy, 32 [RCV000877806]\|not provided [RCV001354563]	benign\|likely benign\|uncertain significance	1	110603811	110603811	Human	1	name
15172397	CV731571	single nucleotide variant	NM_004974.4(KCNA2):c.465C>T (p.Tyr155=)	Developmental and epileptic encephalopathy, 32 [RCV000905659]	likely benign	1	110604318	110604318	Human	1	name
15164261	CV745562	single nucleotide variant	NM_004974.4(KCNA2):c.891G>T (p.Arg297=)	Developmental and epileptic encephalopathy, 32 [RCV000926339]\|not provided [RCV003411893]	benign\|likely benign	1	110603892	110603892	Human	1	name
15179876	CV761052	single nucleotide variant	NM_004974.4(KCNA2):c.903C>T (p.Val301=)	Developmental and epileptic encephalopathy, 32 [RCV000929747]	likely benign	1	110603880	110603880	Human	1	name
15146555	CV761053	single nucleotide variant	NM_004974.4(KCNA2):c.576T>C (p.Asn192=)	Developmental and epileptic encephalopathy, 32 [RCV000944766]	likely benign	1	110604207	110604207	Human	1	name
15149355	CV761054	single nucleotide variant	NM_004974.4(KCNA2):c.544C>T (p.Leu182=)	not provided [RCV000945291]	likely benign	1	110604239	110604239	Human		name
34890810	CV904363	single nucleotide variant	NM_004974.4(KCNA2):c.393C>T (p.Gly131=)	not provided [RCV001171757]	likely benign	1	110604390	110604390	Human		name
38493744	CV921567	single nucleotide variant	NM_004974.4(KCNA2):c.47C>G (p.Pro16Arg)	Developmental and epileptic encephalopathy, 32 [RCV001224485]	uncertain significance	1	110604736	110604736	Human	1	name
126756058	CV1022529	deletion	NM_004974.4(KCNA2):c.627del (p.Ile210fs)	Developmental and epileptic encephalopathy, 32 [RCV001339183]	uncertain significance	1	110604156	110604156	Human	1	name
126757742	CV1022530	single nucleotide variant	NM_004974.4(KCNA2):c.235G>T (p.Asp79Tyr)	Developmental and epileptic encephalopathy, 32 [RCV001339653]\|not provided [RCV001762563]	uncertain significance	1	110604548	110604548	Human	1	name
127247490	CV1066017	single nucleotide variant	NM_004974.4(KCNA2):c.1179A>G (p.Leu393=)	Developmental and epileptic encephalopathy, 32 [RCV001399141]	likely benign	1	110603604	110603604	Human	1	name
127257486	CV1066018	single nucleotide variant	NM_004974.4(KCNA2):c.1146G>A (p.Pro382=)	Developmental and epileptic encephalopathy, 32 [RCV001401473]	likely benign	1	110603637	110603637	Human	1	name
127277561	CV1066019	single nucleotide variant	NM_004974.4(KCNA2):c.1080C>T (p.Ser360=)	Developmental and epileptic encephalopathy, 32 [RCV001407920]	likely benign	1	110603703	110603703	Human	1	name
127240902	CV1087788	single nucleotide variant	NM_004974.4(KCNA2):c.1450T>C (p.Leu484=)	Developmental and epileptic encephalopathy, 32 [RCV001423456]	likely benign	1	110603333	110603333	Human	1	name
127307704	CV1109275	single nucleotide variant	NM_004974.4(KCNA2):c.1023T>C (p.Leu341=)	Developmental and epileptic encephalopathy, 32 [RCV001463123]\|not provided [RCV004711658]	likely benign	1	110603760	110603760	Human	1	name
127297253	CV1130192	single nucleotide variant	NM_004974.4(KCNA2):c.1416T>C (p.Phe472=)	Developmental and epileptic encephalopathy, 32 [RCV001497734]	likely benign	1	110603367	110603367	Human	1	name
127296088	CV1153177	single nucleotide variant	NM_004974.4(KCNA2):c.1143T>C (p.Val381=)	Developmental and epileptic encephalopathy, 32 [RCV001512421]	benign	1	110603640	110603640	Human	1	name
150334480	CV1165441	single nucleotide variant	NM_004974.4(KCNA2):c.1122T>C (p.Thr374=)	not provided [RCV001531006]	likely benign	1	110603661	110603661	Human		name
150533710	CV1294316	single nucleotide variant	NM_004974.4(KCNA2):c.127C>T (p.Arg43Trp)	Developmental and epileptic encephalopathy, 32 [RCV002543956]\|not provided [RCV001758334]	uncertain significance	1	110604656	110604656	Human	1	name
151712014	CV1400171	deletion	NM_004974.4(KCNA2):c.808del (p.Leu270fs)	Developmental and epileptic encephalopathy, 32 [RCV002002174]	uncertain significance	1	110603975	110603975	Human	1	name
151849327	CV1453148	single nucleotide variant	NM_004974.4(KCNA2):c.245G>A (p.Arg82His)	Developmental and epileptic encephalopathy, 32 [RCV002032953]	uncertain significance	1	110604538	110604538	Human	1	name
152133430	CV1544953	single nucleotide variant	NM_004974.4(KCNA2):c.1422G>A (p.Glu474=)	Developmental and epileptic encephalopathy, 32 [RCV002177106]	likely benign	1	110603361	110603361	Human	1	name
152111287	CV1582321	single nucleotide variant	NM_004974.4(KCNA2):c.1110C>G (p.Val370=)	Developmental and epileptic encephalopathy, 32 [RCV002080285]	likely benign	1	110603673	110603673	Human	1	name
152145255	CV1661555	single nucleotide variant	NM_004974.4(KCNA2):c.1014G>C (p.Gly338=)	Developmental and epileptic encephalopathy, 32 [RCV002157331]	likely benign	1	110603769	110603769	Human	1	name
155644968	CV1708891	duplication	NM_004974.4(KCNA2):c.585dup (p.His196fs)	Developmental and epileptic encephalopathy, 32 [RCV002291488]	likely pathogenic	1	110604197	110604198	Human	1	name
155723705	CV1832529	single nucleotide variant	NM_004974.4(KCNA2):c.1383C>T (p.Ile461=)	Developmental and epileptic encephalopathy, 32 [RCV003095065]\|Inborn genetic diseases [RCV002381211]	likely benign	1	110603400	110603400	Human	2	name
155688799	CV1856407	single nucleotide variant	NM_004974.4(KCNA2):c.296G>A (p.Arg99Lys)	Inborn genetic diseases [RCV002442079]	uncertain significance	1	110604487	110604487	Human	1	name
155800725	CV1860208	single nucleotide variant	NM_004974.4(KCNA2):c.212C>T (p.Pro71Leu)	Developmental and epileptic encephalopathy, 32 [RCV002466849]	uncertain significance	1	110604571	110604571	Human	1	name
156195502	CV1900684	single nucleotide variant	NM_004974.4(KCNA2):c.1158G>A (p.Gly386=)	Developmental and epileptic encephalopathy, 32 [RCV002574555]	likely benign	1	110603625	110603625	Human	1	name
156404927	CV1919104	single nucleotide variant	NM_004974.4(KCNA2):c.1389G>A (p.Glu463=)	Developmental and epileptic encephalopathy, 32 [RCV002585532]	likely benign	1	110603394	110603394	Human	1	name
156417812	CV1920492	single nucleotide variant	NM_004974.4(KCNA2):c.1338A>G (p.Lys446=)	Developmental and epileptic encephalopathy, 32 [RCV002610976]	likely benign	1	110603445	110603445	Human	1	name
155943116	CV1920845	single nucleotide variant	NM_004974.4(KCNA2):c.141G>T (p.Gln47His)	Developmental and epileptic encephalopathy, 32 [RCV002615769]	uncertain significance	1	110604642	110604642	Human	1	name
156376494	CV1930533	single nucleotide variant	NM_004974.4(KCNA2):c.1288T>C (p.Leu430=)	Developmental and epileptic encephalopathy, 32 [RCV002633878]	likely benign	1	110603495	110603495	Human	1	name
156238425	CV1973099	single nucleotide variant	NM_004974.4(KCNA2):c.1149T>C (p.Thr383=)	Developmental and epileptic encephalopathy, 32 [RCV002597063]	likely benign	1	110603634	110603634	Human	1	name
156405412	CV1994385	single nucleotide variant	NM_004974.4(KCNA2):c.1320C>T (p.Ser440=)	Developmental and epileptic encephalopathy, 32 [RCV002658299]	likely benign	1	110603463	110603463	Human	1	name
156370957	CV2007739	single nucleotide variant	NM_004974.4(KCNA2):c.1119A>G (p.Thr373=)	Developmental and epileptic encephalopathy, 32 [RCV002676893]	likely benign	1	110603664	110603664	Human	1	name
155940615	CV2054932	single nucleotide variant	NM_004974.4(KCNA2):c.1179A>C (p.Leu393=)	Developmental and epileptic encephalopathy, 32 [RCV002815670]	likely benign	1	110603604	110603604	Human	1	name
156032282	CV2078939	single nucleotide variant	NM_004974.4(KCNA2):c.1056T>C (p.Asp352=)	Developmental and epileptic encephalopathy, 32 [RCV002867103]	likely benign	1	110603727	110603727	Human	1	name
155960994	CV2080447	duplication	NM_004974.4(KCNA2):c.815dup (p.Glu273fs)	Developmental and epileptic encephalopathy, 32 [RCV002862857]	uncertain significance	1	110603967	110603968	Human	1	name
156014097	CV2121272	single nucleotide variant	NM_004974.4(KCNA2):c.260C>G (p.Ala87Gly)	Developmental and epileptic encephalopathy, 32 [RCV002948439]	uncertain significance	1	110604523	110604523	Human	1	name
156304741	CV2167424	single nucleotide variant	NM_004974.4(KCNA2):c.189G>T (p.Lys63Asn)	Developmental and epileptic encephalopathy, 32 [RCV003045724]	uncertain significance	1	110604594	110604594	Human	1	name
156247228	CV2174349	single nucleotide variant	NM_004974.4(KCNA2):c.289C>T (p.Arg97Ter)	Developmental and epileptic encephalopathy, 32 [RCV003043659]	uncertain significance	1	110604494	110604494	Human	1	name
401760930	CV2706149	single nucleotide variant	NM_004974.4(KCNA2):c.248C>T (p.Pro83Leu)	Inborn genetic diseases [RCV003257387]\|KCNA2-related disorder [RCV004548558]	uncertain significance	1	110604535	110604535	Human	2	name , trait , alternate_id
405173717	CV2853510	deletion	NM_004974.4(KCNA2):c.480del (p.Pro161fs)	not provided [RCV003542554]	uncertain significance	1	110604303	110604303	Human		name
405191718	CV2878096	single nucleotide variant	NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)	Developmental and epileptic encephalopathy, 32 [RCV003589941]	likely benign	1	110603319	110603319	Human	1	name
405197106	CV2879933	single nucleotide variant	NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)	Developmental and epileptic encephalopathy, 32 [RCV003590646]	likely benign	1	110603352	110603352	Human	1	name
405198692	CV2881709	duplication	NM_004974.4(KCNA2):c.653dup (p.Thr219fs)	Developmental and epileptic encephalopathy, 32 [RCV003590937]	uncertain significance	1	110604129	110604130	Human	1	name
405199504	CV2888365	single nucleotide variant	NM_004974.4(KCNA2):c.1254C>T (p.His418=)	Developmental and epileptic encephalopathy, 32 [RCV003590965]	likely benign	1	110603529	110603529	Human	1	name
405186467	CV2908255	single nucleotide variant	NM_004974.4(KCNA2):c.172C>T (p.Leu58Phe)	Developmental and epileptic encephalopathy, 32 [RCV003589430]	uncertain significance	1	110604611	110604611	Human	1	name
405124087	CV2945028	single nucleotide variant	NM_004974.4(KCNA2):c.166G>C (p.Glu56Gln)	Developmental and epileptic encephalopathy, 32 [RCV003753413]	uncertain significance	1	110604617	110604617	Human	1	name
405125181	CV2961271	single nucleotide variant	NM_004974.4(KCNA2):c.155C>T (p.Ala52Val)	Developmental and epileptic encephalopathy, 32 [RCV003753560]	uncertain significance	1	110604628	110604628	Human	1	name
405130540	CV2973021	single nucleotide variant	NM_004974.4(KCNA2):c.235G>C (p.Asp79His)	Developmental and epileptic encephalopathy, 32 [RCV003754161]	uncertain significance	1	110604548	110604548	Human	1	name
405209192	CV3117220	single nucleotide variant	NM_004974.4(KCNA2):c.1395A>G (p.Val465=)	Developmental and epileptic encephalopathy, 32 [RCV003823007]	likely benign	1	110603388	110603388	Human	1	name
405243249	CV3164674	single nucleotide variant	NM_004974.4(KCNA2):c.1499G>A (p.Ter500=)	Developmental and epileptic encephalopathy, 32 [RCV003867755]	likely benign	1	110603284	110603284	Human	1	name
405243301	CV3164675	single nucleotide variant	NM_004974.4(KCNA2):c.1215G>C (p.Pro405=)	Developmental and epileptic encephalopathy, 32 [RCV003867756]	likely benign	1	110603568	110603568	Human	1	name
408390199	CV3519249	single nucleotide variant	NM_004974.4(KCNA2):c.295A>G (p.Arg99Gly)	not provided [RCV004762558]	uncertain significance	1	110604488	110604488	Human		name
597970156	CV3750132	single nucleotide variant	NM_004974.4(KCNA2):c.1179A>T (p.Leu393=)	Developmental and epileptic encephalopathy, 32 [RCV005084073]	likely benign	1	110603604	110603604	Human	1	name
597942726	CV3757856	single nucleotide variant	NM_004974.4(KCNA2):c.1230G>A (p.Val410=)	Developmental and epileptic encephalopathy, 32 [RCV005077855]	likely benign	1	110603553	110603553	Human	1	name
597944826	CV3758435	single nucleotide variant	NM_004974.4(KCNA2):c.1458C>T (p.Asn486=)	Developmental and epileptic encephalopathy, 32 [RCV005078254]	likely benign	1	110603325	110603325	Human	1	name
597918754	CV3789791	single nucleotide variant	NM_004974.4(KCNA2):c.136A>G (p.Thr46Ala)	Developmental and epileptic encephalopathy, 32 [RCV005129886]	uncertain significance	1	110604647	110604647	Human	1	name
597976192	CV3829203	single nucleotide variant	NM_004974.4(KCNA2):c.1401C>T (p.Asn467=)	Developmental and epileptic encephalopathy, 32 [RCV005169652]	likely benign	1	110603382	110603382	Human	1	name
597971739	CV3833168	single nucleotide variant	NM_004974.4(KCNA2):c.196A>G (p.Met66Val)	Developmental and epileptic encephalopathy, 32 [RCV005167065]	uncertain significance	1	110604587	110604587	Human	1	name
597961330	CV3840693	single nucleotide variant	NM_004974.4(KCNA2):c.1284A>G (p.Gln428=)	Developmental and epileptic encephalopathy, 32 [RCV005192986]	likely benign	1	110603499	110603499	Human	1	name
597952186	CV3847570	single nucleotide variant	NM_004974.4(KCNA2):c.128G>A (p.Arg43Gln)	Developmental and epileptic encephalopathy, 32 [RCV005190552]	uncertain significance	1	110604655	110604655	Human	1	name
597870187	CV3855157	deletion	NM_004974.4(KCNA2):c.939del (p.Leu314fs)	Developmental and epileptic encephalopathy, 32 [RCV005197322]	uncertain significance	1	110603844	110603844	Human	1	name
12905642	CV413244	single nucleotide variant	NM_004974.4(KCNA2):c.1047A>G (p.Ala349=)	Developmental and epileptic encephalopathy, 32 [RCV001083044]\|Inborn genetic diseases [RCV002404274]\|KCNA2-related disorder [RCV004551595]\|not provided [RCV000487779]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	110603736	110603736	Human	2	name , trait , alternate_id
13469703	CV440338	single nucleotide variant	NM_004974.4(KCNA2):c.1392T>G (p.Gly464=)	Developmental and epileptic encephalopathy, 32 [RCV000552121]\|Inborn genetic diseases [RCV002316468]\|KCNA2-related disorder [RCV004553133]\|not provided [RCV001613337]\|not specified [RCV000516271]	benign\|likely benign	1	110603391	110603391	Human	2	name , trait , alternate_id
13482415	CV440339	single nucleotide variant	NM_004974.4(KCNA2):c.1185G>C (p.Ala395=)	Developmental and epileptic encephalopathy, 32 [RCV001522771]\|Inborn genetic diseases [RCV002311837]\|not provided [RCV001540074]\|not specified [RCV000517857]	benign	1	110603598	110603598	Human	2	name
13469304	CV446984	single nucleotide variant	NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter)	Developmental and epileptic encephalopathy, 32 [RCV000545168]\|Seizure [RCV004546522]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	110604590	110604590	Human	3	name
13487340	CV447116	single nucleotide variant	NM_004974.4(KCNA2):c.1185G>A (p.Ala395=)	Developmental and epileptic encephalopathy, 32 [RCV000531763]\|Inborn genetic diseases [RCV002341459]\|KCNA2-related disorder [RCV004553246]\|not provided [RCV001692202]	benign\|likely benign	1	110603598	110603598	Human	2	name , trait , alternate_id
13489909	CV447121	single nucleotide variant	NM_004974.4(KCNA2):c.1107C>T (p.Val369=)	Developmental and epileptic encephalopathy, 32 [RCV000555594]\|Inborn genetic diseases [RCV002456253]	likely benign	1	110603676	110603676	Human	2	name
13625188	CV515007	single nucleotide variant	NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys)	Developmental and epileptic encephalopathy, 32 [RCV000653136]	uncertain significance	1	110604539	110604539	Human	1	name
13625221	CV515017	single nucleotide variant	NM_004974.4(KCNA2):c.1299A>T (p.Thr433=)	Developmental and epileptic encephalopathy, 32 [RCV000653138]\|Inborn genetic diseases [RCV002317894]\|not provided [RCV001692252]	benign\|likely benign	1	110603484	110603484	Human	2	name
13814358	CV556836	single nucleotide variant	NM_004974.4(KCNA2):c.238C>T (p.Arg80Trp)	Developmental and epileptic encephalopathy, 32 [RCV000704983]\|not provided [RCV003411645]	uncertain significance	1	110604545	110604545	Human	1	name
13814438	CV556838	single nucleotide variant	NM_004974.4(KCNA2):c.218G>A (p.Arg73Gln)	Developmental and epileptic encephalopathy, 32 [RCV000705035]	uncertain significance	1	110604565	110604565	Human	1	name
13830422	CV578702	single nucleotide variant	NM_004974.4(KCNA2):c.1053C>T (p.Ala351=)	Developmental and epileptic encephalopathy, 32 [RCV001492365]\|Inborn genetic diseases [RCV002317544]	likely benign	1	110603730	110603730	Human	2	name
14733625	CV626576	single nucleotide variant	NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter)	Developmental and epileptic encephalopathy, 32 [RCV000802363]\|not provided [RCV001592991]	likely pathogenic\|uncertain significance	1	110604566	110604566	Human	1	name
15186079	CV731569	single nucleotide variant	NM_004974.4(KCNA2):c.1281C>T (p.Ala427=)	Developmental and epileptic encephalopathy, 32 [RCV000908708]	likely benign	1	110603502	110603502	Human	1	name
15140903	CV731570	single nucleotide variant	NM_004974.4(KCNA2):c.1050G>A (p.Glu350=)	Developmental and epileptic encephalopathy, 32 [RCV000899398]	likely benign	1	110603733	110603733	Human	1	name
15125437	CV761049	single nucleotide variant	NM_004974.4(KCNA2):c.1275A>G (p.Glu425=)	Developmental and epileptic encephalopathy, 32 [RCV001468069]	likely benign	1	110603508	110603508	Human	1	name
15189876	CV761050	single nucleotide variant	NM_004974.4(KCNA2):c.1113C>T (p.Ser371=)	Developmental and epileptic encephalopathy, 32 [RCV001498070]	likely benign	1	110603670	110603670	Human	1	name
15146244	CV761051	single nucleotide variant	NM_004974.4(KCNA2):c.1074C>T (p.Phe358=)	Developmental and epileptic encephalopathy, 32 [RCV000944717]	likely benign	1	110603709	110603709	Human	1	name
25317202	CV805071	deletion	NM_004974.4(KCNA2):c.590del (p.Gly197fs)	Seizure [RCV001007896]	pathogenic	1	110604193	110604193	Human	2	name
26918013	CV822501	single nucleotide variant	NM_004974.4(KCNA2):c.239G>A (p.Arg80Gln)	Developmental and epileptic encephalopathy, 32 [RCV001057465]\|not provided [RCV003156311]	pathogenic\|uncertain significance	1	110604544	110604544	Human	1	name
38492455	CV921566	single nucleotide variant	NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn)	Developmental and epileptic encephalopathy, 32 [RCV001223588]	uncertain significance	1	110604548	110604548	Human	1	name
38457609	CV941367	single nucleotide variant	NM_004974.4(KCNA2):c.1215G>A (p.Pro405=)	Developmental and epileptic encephalopathy, 32 [RCV001228621]\|Inborn genetic diseases [RCV002356975]	likely benign\|uncertain significance	1	110603568	110603568	Human	2	name
38484506	CV941369	single nucleotide variant	NM_004974.4(KCNA2):c.170C>T (p.Thr57Ile)	Developmental and epileptic encephalopathy, 32 [RCV001236369]	uncertain significance	1	110604613	110604613	Human	1	name
38598162	CV964122	single nucleotide variant	NM_004974.4(KCNA2):c.290G>A (p.Arg97Gln)	Developmental and epileptic encephalopathy, 32 [RCV001253444]	uncertain significance	1	110604493	110604493	Human	1	name
126744094	CV986801	single nucleotide variant	NM_004974.4(KCNA2):c.277C>T (p.Gln93Ter)	Developmental and epileptic encephalopathy, 32 [RCV001296289]	uncertain significance	1	110604506	110604506	Human	1	name
126728495	CV986802	single nucleotide variant	NM_004974.4(KCNA2):c.194G>A (p.Arg65Gln)	Developmental and epileptic encephalopathy, 32 [RCV001303404]\|not provided [RCV001587330]	uncertain significance	1	110604589	110604589	Human	1	name
126750828	CV1002018	single nucleotide variant	NM_004974.4(KCNA2):c.862A>G (p.Met288Val)	Developmental and epileptic encephalopathy, 32 [RCV001326799]	uncertain significance	1	110603921	110603921	Human	1	name
126762832	CV1002019	single nucleotide variant	NM_004974.4(KCNA2):c.592A>G (p.Ser198Gly)	Developmental and epileptic encephalopathy, 32 [RCV001319052]	uncertain significance	1	110604191	110604191	Human	1	name
126748055	CV1002020	single nucleotide variant	NM_004974.4(KCNA2):c.448T>C (p.Trp150Arg)	Developmental and epileptic encephalopathy, 32 [RCV001315462]\|not provided [RCV001760382]	uncertain significance	1	110604335	110604335	Human	1	name
126741949	CV1002021	single nucleotide variant	NM_004974.4(KCNA2):c.299G>A (p.Arg100Gln)	Developmental and epileptic encephalopathy, 32 [RCV001325411]	uncertain significance	1	110604484	110604484	Human	1	name
126909318	CV1039347	single nucleotide variant	NM_004974.4(KCNA2):c.536G>A (p.Ser179Asn)	Developmental and epileptic encephalopathy, 32 [RCV001368382]	likely benign\|uncertain significance	1	110604247	110604247	Human	1	name
127242529	CV1054728	single nucleotide variant	NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser)	Developmental and epileptic encephalopathy, 32 [RCV001376941]	likely pathogenic	1	110603883	110603883	Human	1	name
127287783	CV1163172	single nucleotide variant	NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu)	Developmental and epileptic encephalopathy, 1 [RCV001527627]	likely pathogenic	1	110603877	110603877	Human	1	name
150427183	CV1186034	single nucleotide variant	NM_004974.4(KCNA2):c.640C>T (p.Gln214Ter)	not provided [RCV001560596]	pathogenic	1	110604143	110604143	Human		name
150408182	CV1189453	microsatellite	NM_004974.4(KCNA2):c.1454_1455insTACACA	not provided [RCV001565233]	likely benign	1	110601828	110601829	Human		name
150533241	CV1294138	single nucleotide variant	NM_004974.4(KCNA2):c.739A>G (p.Lys247Glu)	KCNA2-related disorder [RCV002508965]\|not provided [RCV001758156]	uncertain significance\|not provided	1	110604044	110604044	Human	1	name , trait , alternate_id
150554342	CV1295767	single nucleotide variant	NM_004974.4(KCNA2):c.532G>A (p.Val178Ile)	Developmental and epileptic encephalopathy, 32 [RCV002544015]\|not provided [RCV001770997]	uncertain significance	1	110604251	110604251	Human	1	name
150555106	CV1295920	single nucleotide variant	NM_004974.4(KCNA2):c.838G>A (p.Asp280Asn)	not provided [RCV001772429]	uncertain significance	1	110603945	110603945	Human		name
150555128	CV1295943	single nucleotide variant	NM_004974.4(KCNA2):c.460G>C (p.Glu154Gln)	not provided [RCV001772452]	uncertain significance	1	110604323	110604323	Human		name
150555453	CV1297924	single nucleotide variant	NM_004974.4(KCNA2):c.767A>T (p.Asn256Ile)	Developmental and epileptic encephalopathy, 32 [RCV002034479]\|not provided [RCV001772832]	uncertain significance	1	110604016	110604016	Human	1	name
150555454	CV1297925	single nucleotide variant	NM_004974.4(KCNA2):c.989T>A (p.Leu330His)	not provided [RCV001772833]	uncertain significance	1	110603794	110603794	Human		name
150542051	CV1302471	single nucleotide variant	NM_004974.4(KCNA2):c.625A>T (p.Thr209Ser)	not provided [RCV001761161]	uncertain significance	1	110604158	110604158	Human		name
150553354	CV1303338	single nucleotide variant	NM_004974.4(KCNA2):c.700T>C (p.Ser234Pro)	Developmental and epileptic encephalopathy, 32 [RCV003753199]\|not provided [RCV001769028]	uncertain significance	1	110604083	110604083	Human	1	name
150547870	CV1303820	single nucleotide variant	NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly)	Developmental and epileptic encephalopathy, 32 [RCV001868600]\|See cases [RCV002252701]\|not provided [RCV001763923]	pathogenic\|uncertain significance	1	110603858	110603858	Human	1	name
151232569	CV1316843	single nucleotide variant	NM_004974.4(KCNA2):c.850G>C (p.Gly284Arg)	not provided [RCV001786663]	uncertain significance	1	110603933	110603933	Human		name
151768318	CV1345477	single nucleotide variant	NM_004974.4(KCNA2):c.397A>G (p.Ile133Val)	Developmental and epileptic encephalopathy, 32 [RCV001863833]	uncertain significance	1	110604386	110604386	Human	1	name
151797509	CV1352617	single nucleotide variant	NM_004974.4(KCNA2):c.937G>T (p.Gly313Cys)	Developmental and epileptic encephalopathy, 32 [RCV001877079]	uncertain significance	1	110603846	110603846	Human	1	name
151879056	CV1370209	single nucleotide variant	NM_004974.4(KCNA2):c.731G>A (p.Cys244Tyr)	Developmental and epileptic encephalopathy, 32 [RCV001961405]	uncertain significance	1	110604052	110604052	Human	1	name
151827714	CV1396421	single nucleotide variant	NM_004974.4(KCNA2):c.601A>T (p.Thr201Ser)	Developmental and epileptic encephalopathy, 32 [RCV001934748]	uncertain significance	1	110604182	110604182	Human	1	name
151835271	CV1420183	single nucleotide variant	NM_004974.4(KCNA2):c.806C>T (p.Thr269Ile)	Developmental and epileptic encephalopathy, 32 [RCV001977070]	uncertain significance	1	110603977	110603977	Human	1	name
151770667	CV1429201	single nucleotide variant	NM_004974.4(KCNA2):c.980A>T (p.Glu327Val)	Developmental and epileptic encephalopathy, 32 [RCV001988205]	uncertain significance	1	110603803	110603803	Human	1	name
151743729	CV1431790	single nucleotide variant	NM_004974.4(KCNA2):c.686G>A (p.Cys229Tyr)	Developmental and epileptic encephalopathy, 32 [RCV001926728]	uncertain significance	1	110604097	110604097	Human	1	name
151842084	CV1436069	single nucleotide variant	NM_004974.4(KCNA2):c.680C>T (p.Thr227Ile)	Developmental and epileptic encephalopathy, 32 [RCV001956880]	uncertain significance	1	110604103	110604103	Human	1	name
151880752	CV1437102	single nucleotide variant	NM_004974.4(KCNA2):c.929A>C (p.His310Pro)	Developmental and epileptic encephalopathy, 32 [RCV001999532]	uncertain significance	1	110603854	110603854	Human	1	name
151848981	CV1439945	single nucleotide variant	NM_004974.4(KCNA2):c.841G>T (p.Ala281Ser)	Developmental and epileptic encephalopathy, 32 [RCV002016318]	uncertain significance	1	110603942	110603942	Human	1	name
151850707	CV1448534	single nucleotide variant	NM_004974.4(KCNA2):c.317T>C (p.Leu106Ser)	Developmental and epileptic encephalopathy, 32 [RCV001957949]	uncertain significance	1	110604466	110604466	Human	1	name
151801732	CV1449586	single nucleotide variant	NM_004974.4(KCNA2):c.511A>G (p.Met171Val)	Developmental and epileptic encephalopathy, 32 [RCV002048041]	uncertain significance	1	110604272	110604272	Human	1	name
151884616	CV1452705	single nucleotide variant	NM_004974.4(KCNA2):c.974T>A (p.Met325Lys)	Developmental and epileptic encephalopathy, 32 [RCV002037588]	uncertain significance	1	110603809	110603809	Human	1	name
151813777	CV1460353	single nucleotide variant	NM_004974.4(KCNA2):c.520C>A (p.Leu174Met)	Developmental and epileptic encephalopathy, 32 [RCV001878532]	uncertain significance	1	110604263	110604263	Human	1	name
151855905	CV1473928	single nucleotide variant	NM_004974.4(KCNA2):c.628A>G (p.Ile210Val)	Developmental and epileptic encephalopathy, 32 [RCV001904687]	uncertain significance	1	110604155	110604155	Human	1	name
151859596	CV1486638	single nucleotide variant	NM_004974.4(KCNA2):c.450G>T (p.Trp150Cys)	Developmental and epileptic encephalopathy, 32 [RCV001883751]	uncertain significance	1	110604333	110604333	Human	1	name
151842669	CV1514351	single nucleotide variant	NM_004974.4(KCNA2):c.308A>G (p.Asn103Ser)	Developmental and epileptic encephalopathy, 32 [RCV001956942]	uncertain significance	1	110604475	110604475	Human	1	name
152981522	CV1676848	single nucleotide variant	NM_004974.4(KCNA2):c.409G>A (p.Glu137Lys)	not specified [RCV002247915]	uncertain significance	1	110604374	110604374	Human		name
153302284	CV1688152	single nucleotide variant	NM_004974.4(KCNA2):c.733C>T (p.Pro245Ser)	not provided [RCV002265378]	uncertain significance	1	110604050	110604050	Human		name
153346592	CV1691875	single nucleotide variant	NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe)	Developmental and epileptic encephalopathy, 32 [RCV002273358]	uncertain significance	1	110604454	110604454	Human	1	name
155643681	CV1708036	single nucleotide variant	NM_004974.4(KCNA2):c.640C>A (p.Gln214Lys)	Developmental and epileptic encephalopathy, 32 [RCV002289497]	uncertain significance	1	110604143	110604143	Human	1	name
155714033	CV1760316	single nucleotide variant	NM_004974.4(KCNA2):c.574A>T (p.Asn192Tyr)	not provided [RCV002300822]	uncertain significance	1	110604209	110604209	Human		name
155707506	CV1772737	single nucleotide variant	NM_004974.4(KCNA2):c.773T>A (p.Ile258Asn)	Developmental and epileptic encephalopathy, 32 [RCV002300392]	pathogenic\|uncertain significance	1	110604010	110604010	Human	1	name
155712129	CV1775889	single nucleotide variant	NM_004974.4(KCNA2):c.647C>T (p.Thr216Ile)	Developmental and epileptic encephalopathy, 32 [RCV002296245]	uncertain significance	1	110604136	110604136	Human	1	name
155733406	CV1776522	single nucleotide variant	NM_004974.4(KCNA2):c.764T>A (p.Met255Lys)	Developmental and epileptic encephalopathy, 32 [RCV002301803]	uncertain significance	1	110604019	110604019	Human	1	name
155695368	CV1777003	single nucleotide variant	NM_004974.4(KCNA2):c.781G>T (p.Val261Leu)	Developmental and epileptic encephalopathy, 32 [RCV002295180]	uncertain significance	1	110604002	110604002	Human	1	name
155742989	CV1777458	single nucleotide variant	NM_004974.4(KCNA2):c.626C>T (p.Thr209Ile)	Developmental and epileptic encephalopathy, 32 [RCV002302959]	uncertain significance	1	110604157	110604157	Human	1	name
155745865	CV1803036	single nucleotide variant	NM_004974.4(KCNA2):c.539T>G (p.Phe180Cys)	Inborn genetic diseases [RCV002347245]	likely pathogenic	1	110604244	110604244	Human	1	name
155672922	CV1825431	single nucleotide variant	NM_004974.4(KCNA2):c.972C>A (p.Ser324Arg)	Inborn genetic diseases [RCV002387049]\|not provided [RCV003128865]	uncertain significance	1	110603811	110603811	Human	1	name
155795073	CV1858895	single nucleotide variant	NM_004974.4(KCNA2):c.928C>G (p.His310Asp)	Global developmental delay [RCV002463862]	likely pathogenic	1	110603855	110603855	Human	2	name
155800216	CV1860072	single nucleotide variant	NM_004974.4(KCNA2):c.785C>T (p.Ala262Val)	Developmental and epileptic encephalopathy, 32 [RCV002466340]	likely pathogenic	1	110603998	110603998	Human	1	name
155798190	CV1860615	single nucleotide variant	NM_004974.4(KCNA2):c.749T>C (p.Phe250Ser)	not provided [RCV002467257]	uncertain significance	1	110604034	110604034	Human		name
10044826	CV188153	single nucleotide variant	NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr)	Developmental and epileptic encephalopathy, 32 [RCV000170512]	pathogenic\|likely pathogenic	1	110603995	110603995	Human	1	name
10044331	CV188154	single nucleotide variant	NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe)	Developmental and epileptic encephalopathy, 32 [RCV000170513]\|not provided [RCV001092060]	pathogenic	1	110603889	110603889	Human	1	name
10044827	CV188155	single nucleotide variant	NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)	Developmental and epileptic encephalopathy, 1 [RCV001252020]\|Developmental and epileptic encephalopathy, 32 [RCV000170514]\|Inborn genetic diseases [RCV000622743]\|Neurodevelopmental disorder [RCV001374910]\|not provided [RCV000264400]	pathogenic\|likely pathogenic	1	110603893	110603893	Human	4	name
156054749	CV1882060	single nucleotide variant	NM_004974.4(KCNA2):c.637C>T (p.Gln213Ter)	Developmental and epileptic encephalopathy, 32 [RCV003079008]	pathogenic	1	110604146	110604146	Human	1	name
155912560	CV1935346	single nucleotide variant	NM_004974.4(KCNA2):c.621C>A (p.Asn207Lys)	Developmental and epileptic encephalopathy, 32 [RCV002510677]\|not provided [RCV003312059]	uncertain significance	1	110604162	110604162	Human	1	name
156257412	CV2000134	single nucleotide variant	NM_004974.4(KCNA2):c.863T>C (p.Met288Thr)	Developmental and epileptic encephalopathy, 32 [RCV002627649]	uncertain significance	1	110603920	110603920	Human	1	name
156147511	CV2003042	single nucleotide variant	NM_004974.4(KCNA2):c.559A>G (p.Ile187Val)	Developmental and epileptic encephalopathy, 32 [RCV002663786]\|not specified [RCV005406498]	uncertain significance	1	110604224	110604224	Human	1	name
155906213	CV2007376	single nucleotide variant	NM_004974.4(KCNA2):c.412C>T (p.Arg138Cys)	Developmental and epileptic encephalopathy, 32 [RCV002681408]	uncertain significance	1	110604371	110604371	Human	1	name
156285880	CV2012775	single nucleotide variant	NM_004974.4(KCNA2):c.587A>G (p.His196Arg)	Developmental and epileptic encephalopathy, 32 [RCV002715459]	uncertain significance	1	110604196	110604196	Human	1	name
156148563	CV2037506	single nucleotide variant	NM_004974.4(KCNA2):c.341G>A (p.Arg114Gln)	Developmental and epileptic encephalopathy, 32 [RCV002786774]	likely benign	1	110604442	110604442	Human	1	name
156248583	CV2040945	single nucleotide variant	NM_004974.4(KCNA2):c.308A>C (p.Asn103Thr)	Developmental and epileptic encephalopathy, 32 [RCV002805926]	uncertain significance	1	110604475	110604475	Human	1	name
156290342	CV2047187	single nucleotide variant	NM_004974.4(KCNA2):c.622A>G (p.Ser208Gly)	Developmental and epileptic encephalopathy, 32 [RCV002770740]	uncertain significance	1	110604161	110604161	Human	1	name
156010382	CV2051383	single nucleotide variant	NM_004974.4(KCNA2):c.727G>C (p.Ala243Pro)	Developmental and epileptic encephalopathy, 32 [RCV002820091]\|not provided [RCV003159235]	uncertain significance	1	110604056	110604056	Human	1	name
156085053	CV2144849	single nucleotide variant	NM_004974.4(KCNA2):c.941T>C (p.Leu314Pro)	Developmental and epileptic encephalopathy, 32 [RCV003020481]	uncertain significance	1	110603842	110603842	Human	1	name
156190731	CV2145043	single nucleotide variant	NM_004974.4(KCNA2):c.730T>C (p.Cys244Arg)	Developmental and epileptic encephalopathy, 32 [RCV003005994]	pathogenic	1	110604053	110604053	Human	1	name
156097939	CV2152836	single nucleotide variant	NM_004974.4(KCNA2):c.365C>T (p.Ala122Val)	Developmental and epileptic encephalopathy, 32 [RCV003020939]	likely benign	1	110604418	110604418	Human	1	name
156364863	CV2167185	single nucleotide variant	NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)	Developmental and epileptic encephalopathy, 32 [RCV003031815]	likely pathogenic	1	110603902	110603902	Human	1	name
156249371	CV2168939	single nucleotide variant	NM_004974.4(KCNA2):c.566G>A (p.Arg189Gln)	Developmental and epileptic encephalopathy, 32 [RCV003026284]	uncertain significance	1	110604217	110604217	Human	1	name
156090617	CV2172825	single nucleotide variant	NM_004974.4(KCNA2):c.900A>C (p.Arg300Ser)	Developmental and epileptic encephalopathy, 32 [RCV003054346]	pathogenic	1	110603883	110603883	Human	1	name
156271028	CV2179006	single nucleotide variant	NM_004974.4(KCNA2):c.614A>T (p.Tyr205Phe)	Developmental and epileptic encephalopathy, 32 [RCV003044453]	uncertain significance	1	110604169	110604169	Human	1	name
156047980	CV2212763	single nucleotide variant	NM_004974.4(KCNA2):c.703T>G (p.Phe235Val)	Inborn genetic diseases [RCV002692673]	uncertain significance	1	110604080	110604080	Human	1	name
155965409	CV2308503	single nucleotide variant	NM_004974.4(KCNA2):c.842C>T (p.Ala281Val)	Inborn genetic diseases [RCV002906428]	uncertain significance	1	110603941	110603941	Human	1	name
156061900	CV2320950	single nucleotide variant	NM_004974.4(KCNA2):c.632G>T (p.Gly211Val)	Inborn genetic diseases [RCV002925100]	uncertain significance	1	110604151	110604151	Human	1	name
11633461	CV263933	single nucleotide variant	NM_004974.4(KCNA2):c.881G>A (p.Arg294His)	Complex neurodevelopmental disorder [RCV005250046]\|Developmental and epileptic encephalopathy, 32 [RCV000706154]\|Inborn genetic diseases [RCV000622695]\|not provided [RCV000339475]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	110603902	110603902	Human	3	name
401727168	CV2714949	single nucleotide variant	NM_004974.4(KCNA2):c.438G>T (p.Gln146His)	Inborn genetic diseases [RCV003246641]	uncertain significance	1	110604345	110604345	Human	1	name
401876045	CV2750125	single nucleotide variant	NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)	Developmental and epileptic encephalopathy, 32 [RCV003333559]	uncertain significance	1	110604421	110604421	Human	1	name
401878436	CV2794286	single nucleotide variant	NM_004974.4(KCNA2):c.485C>A (p.Ala162Asp)	Developmental and epileptic encephalopathy, 32 [RCV003588900]\|Seizure [RCV003384293]	likely pathogenic\|uncertain significance	1	110604298	110604298	Human	3	name
401909385	CV2803826	single nucleotide variant	NM_004974.4(KCNA2):c.764T>G (p.Met255Arg)	KCNA2-related disorder [RCV004552415]	uncertain significance	1	110604019	110604019	Human		name , trait , alternate_id
401928132	CV2809067	single nucleotide variant	NM_004974.4(KCNA2):c.620A>G (p.Asn207Ser)	Developmental and epileptic encephalopathy, 32 [RCV005100008]\|not provided [RCV003406665]	uncertain significance	1	110604163	110604163	Human	1	name
401928135	CV2809068	single nucleotide variant	NM_004974.4(KCNA2):c.512T>C (p.Met171Thr)	not provided [RCV003406666]	uncertain significance	1	110604271	110604271	Human		name
401916995	CV2829606	single nucleotide variant	NM_004974.4(KCNA2):c.589G>T (p.Gly197Cys)	not provided [RCV003443650]	uncertain significance	1	110604194	110604194	Human		name
405189047	CV2858516	single nucleotide variant	NM_004974.4(KCNA2):c.656C>A (p.Thr219Lys)	Developmental and epileptic encephalopathy, 32 [RCV003589608]	uncertain significance	1	110604127	110604127	Human	1	name
405178925	CV2890610	single nucleotide variant	NM_004974.4(KCNA2):c.356G>C (p.Gly119Ala)	Developmental and epileptic encephalopathy, 32 [RCV003588419]	uncertain significance	1	110604427	110604427	Human	1	name
405184540	CV2903245	single nucleotide variant	NM_004974.4(KCNA2):c.380G>A (p.Arg127Gln)	Developmental and epileptic encephalopathy, 32 [RCV003589207]	uncertain significance	1	110604403	110604403	Human	1	name
405186478	CV2908264	single nucleotide variant	NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)	Developmental and epileptic encephalopathy, 32 [RCV003589431]	likely pathogenic	1	110603795	110603795	Human	1	name
405186899	CV2908762	single nucleotide variant	NM_004974.4(KCNA2):c.488G>A (p.Arg163Lys)	Developmental and epileptic encephalopathy, 32 [RCV003589481]	uncertain significance	1	110604295	110604295	Human	1	name
405193719	CV2918160	single nucleotide variant	NM_004974.4(KCNA2):c.494T>A (p.Ile165Lys)	Developmental and epileptic encephalopathy, 32 [RCV003590257]	pathogenic\|uncertain significance	1	110604289	110604289	Human	1	name
405125303	CV2942134	single nucleotide variant	NM_004974.4(KCNA2):c.372G>C (p.Glu124Asp)	Developmental and epileptic encephalopathy, 32 [RCV003753441]	uncertain significance	1	110604411	110604411	Human	1	name
405124351	CV2942263	single nucleotide variant	NM_004974.4(KCNA2):c.490A>G (p.Ile164Val)	Developmental and epileptic encephalopathy, 32 [RCV003753467]	uncertain significance	1	110604293	110604293	Human	1	name
405124369	CV2942536	single nucleotide variant	NM_004974.4(KCNA2):c.673G>A (p.Val225Ile)	Developmental and epileptic encephalopathy, 32 [RCV003753469]	uncertain significance	1	110604110	110604110	Human	1	name
405130518	CV2972969	single nucleotide variant	NM_004974.4(KCNA2):c.692T>C (p.Ile231Thr)	Developmental and epileptic encephalopathy, 32 [RCV003754159]	uncertain significance	1	110604091	110604091	Human	1	name
405132581	CV2982800	single nucleotide variant	NM_004974.4(KCNA2):c.919T>G (p.Leu307Val)	Developmental and epileptic encephalopathy, 32 [RCV003754351]	pathogenic\|uncertain significance	1	110603864	110603864	Human	1	name
405133104	CV2994570	single nucleotide variant	NM_004974.4(KCNA2):c.880C>T (p.Arg294Cys)	Developmental and epileptic encephalopathy, 32 [RCV003754429]	uncertain significance	1	110603903	110603903	Human	1	name
405137190	CV3007511	single nucleotide variant	NM_004974.4(KCNA2):c.650C>A (p.Ser217Tyr)	Developmental and epileptic encephalopathy, 32 [RCV003754817]	uncertain significance	1	110604133	110604133	Human	1	name
405135726	CV3012480	single nucleotide variant	NM_004974.4(KCNA2):c.611C>G (p.Thr204Ser)	Developmental and epileptic encephalopathy, 32 [RCV003754686]	uncertain significance	1	110604172	110604172	Human	1	name
405135829	CV3012795	single nucleotide variant	NM_004974.4(KCNA2):c.945G>T (p.Gln315His)	Developmental and epileptic encephalopathy, 32 [RCV003754696]	uncertain significance	1	110603838	110603838	Human	1	name
405139073	CV3021729	single nucleotide variant	NM_004974.4(KCNA2):c.569A>T (p.Asp190Val)	Developmental and epileptic encephalopathy, 32 [RCV003754864]	uncertain significance	1	110604214	110604214	Human	1	name
405118483	CV3023582	single nucleotide variant	NM_004974.4(KCNA2):c.356G>A (p.Gly119Glu)	Developmental and epileptic encephalopathy, 32 [RCV003752693]	uncertain significance	1	110604427	110604427	Human	1	name
405117808	CV3025537	single nucleotide variant	NM_004974.4(KCNA2):c.513G>T (p.Met171Ile)	Developmental and epileptic encephalopathy, 32 [RCV003752607]	uncertain significance	1	110604270	110604270	Human	1	name
405120506	CV3049727	single nucleotide variant	NM_004974.4(KCNA2):c.787A>G (p.Ile263Val)	Developmental and epileptic encephalopathy, 32 [RCV003752904]	uncertain significance	1	110603996	110603996	Human	1	name
405163032	CV3160326	single nucleotide variant	NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)	Developmental and epileptic encephalopathy, 32 [RCV003857205]	uncertain significance	1	110603855	110603855	Human	1	name
404990725	CV3176244	single nucleotide variant	NM_004974.4(KCNA2):c.746G>C (p.Gly249Ala)	Developmental and epileptic encephalopathy, 32 [RCV003881569]	uncertain significance	1	110604037	110604037	Human	1	name
405263926	CV3185258	single nucleotide variant	NM_004974.4(KCNA2):c.440G>A (p.Arg147Lys)	not provided [RCV003885822]	uncertain significance	1	110604343	110604343	Human		name
405291141	CV3222101	single nucleotide variant	NM_004974.4(KCNA2):c.636C>G (p.Tyr212Ter)	Developmental and epileptic encephalopathy, 32 [RCV003984920]	pathogenic	1	110604147	110604147	Human	1	name
405718963	CV3227808	single nucleotide variant	NM_004974.4(KCNA2):c.551C>T (p.Thr184Ile)	Developmental and epileptic encephalopathy, 32 [RCV003992143]	uncertain significance	1	110604232	110604232	Human	1	name
405853545	CV3393216	single nucleotide variant	NM_004974.4(KCNA2):c.542G>A (p.Cys181Tyr)	Developmental and epileptic encephalopathy, 32 [RCV004545946]	uncertain significance	1	110604241	110604241	Human	1	name
405873359	CV3398516	single nucleotide variant	NM_004974.4(KCNA2):c.742G>T (p.Ala248Ser)	not provided [RCV004576012]	uncertain significance	1	110604041	110604041	Human		name
405874703	CV3401591	single nucleotide variant	NM_004974.4(KCNA2):c.694T>C (p.Trp232Arg)	Seizure [RCV004579659]	likely pathogenic	1	110604089	110604089	Human	2	name
408387767	CV3520474	single nucleotide variant	NM_004974.4(KCNA2):c.438G>C (p.Gln146His)	not provided [RCV004761306]	uncertain significance	1	110604345	110604345	Human		name
596944972	CV3543628	single nucleotide variant	NM_004974.4(KCNA2):c.412C>A (p.Arg138Ser)	not provided [RCV004801750]	uncertain significance	1	110604371	110604371	Human		name
12849482	CV364357	single nucleotide variant	NM_004974.4(KCNA2):c.989T>G (p.Leu330Arg)	not provided [RCV000430824]	likely pathogenic	1	110603794	110603794	Human		name
597714782	CV3733138	single nucleotide variant	NM_004974.4(KCNA2):c.794C>G (p.Pro265Arg)	Developmental and epileptic encephalopathy, 32 [RCV005052327]	uncertain significance	1	110603989	110603989	Human	1	name
597717587	CV3733354	single nucleotide variant	NM_004974.4(KCNA2):c.859G>T (p.Ala287Ser)	not provided [RCV005052544]	uncertain significance	1	110603924	110603924	Human		name
597831288	CV3743704	single nucleotide variant	NM_004974.4(KCNA2):c.340C>T (p.Arg114Trp)	Developmental and epileptic encephalopathy, 32 [RCV005062521]	uncertain significance	1	110604443	110604443	Human	1	name
597910300	CV3770348	single nucleotide variant	NM_004974.4(KCNA2):c.614A>C (p.Tyr205Ser)	Developmental and epileptic encephalopathy, 32 [RCV005113649]	uncertain significance	1	110604169	110604169	Human	1	name
597910306	CV3770349	single nucleotide variant	NM_004974.4(KCNA2):c.595G>A (p.Gly199Arg)	Developmental and epileptic encephalopathy, 32 [RCV005113650]	uncertain significance	1	110604188	110604188	Human	1	name
597934369	CV3777038	single nucleotide variant	NM_004974.4(KCNA2):c.696G>C (p.Trp232Cys)	Developmental and epileptic encephalopathy, 32 [RCV005117197]	uncertain significance	1	110604087	110604087	Human	1	name
597913041	CV3778650	single nucleotide variant	NM_004974.4(KCNA2):c.527C>T (p.Ser176Leu)	Developmental and epileptic encephalopathy, 32 [RCV005128995]	uncertain significance	1	110604256	110604256	Human	1	name
597896377	CV3786080	single nucleotide variant	NM_004974.4(KCNA2):c.862A>T (p.Met288Leu)	Developmental and epileptic encephalopathy, 32 [RCV005126454]	uncertain significance	1	110603921	110603921	Human	1	name
597950815	CV3798201	single nucleotide variant	NM_004974.4(KCNA2):c.506C>T (p.Ser169Phe)	Developmental and epileptic encephalopathy, 32 [RCV005135981]	uncertain significance	1	110604277	110604277	Human	1	name
597955747	CV3841934	single nucleotide variant	NM_004974.4(KCNA2):c.790A>G (p.Ile264Val)	Developmental and epileptic encephalopathy, 32 [RCV005191431]	uncertain significance	1	110603993	110603993	Human	1	name
597892720	CV3856763	single nucleotide variant	NM_004974.4(KCNA2):c.967G>A (p.Ala323Thr)	Developmental and epileptic encephalopathy, 32 [RCV005200832]	uncertain significance	1	110603816	110603816	Human	1	name
597892726	CV3856764	single nucleotide variant	NM_004974.4(KCNA2):c.457T>C (p.Phe153Leu)	Developmental and epileptic encephalopathy, 32 [RCV005200833]	uncertain significance	1	110604326	110604326	Human	1	name
597892738	CV3856766	single nucleotide variant	NM_004974.4(KCNA2):c.767A>G (p.Asn256Ser)	Developmental and epileptic encephalopathy, 32 [RCV005200835]	uncertain significance	1	110604016	110604016	Human	1	name
598122365	CV3889827	single nucleotide variant	NM_004974.4(KCNA2):c.914T>C (p.Phe305Ser)	Developmental and epileptic encephalopathy, 32 [RCV005247931]	likely pathogenic	1	110603869	110603869	Human	1	name
598123589	CV3890400	single nucleotide variant	NM_004974.4(KCNA2):c.720G>T (p.Arg240Ser)	not provided [RCV005250919]	uncertain significance	1	110604063	110604063	Human		name
616935435	CV4009523	single nucleotide variant	NM_004974.4(KCNA2):c.521T>G (p.Leu174Arg)	not provided [RCV005402695]	uncertain significance	1	110604262	110604262	Human		name
617148452	CV4017053	single nucleotide variant	NM_004974.4(KCNA2):c.680C>G (p.Thr227Arg)	Developmental and epileptic encephalopathy, 32 [RCV005416200]	uncertain significance	1	110604103	110604103	Human	1	name
12906186	CV414722	single nucleotide variant	NM_004974.4(KCNA2):c.869T>C (p.Leu290Pro)	not provided [RCV000488922]	pathogenic\|likely pathogenic	1	110603914	110603914	Human		name
13471752	CV447041	single nucleotide variant	NM_004974.4(KCNA2):c.895G>C (p.Val299Leu)	Developmental and epileptic encephalopathy, 32 [RCV000547025]	uncertain significance	1	110603888	110603888	Human	1	name
13517215	CV486730	single nucleotide variant	NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile)	Developmental and epileptic encephalopathy, 32 [RCV000585826]	likely pathogenic	1	110603824	110603824	Human	1	name
13531881	CV511150	single nucleotide variant	NM_004974.4(KCNA2):c.694T>A (p.Trp232Arg)	Developmental and epileptic encephalopathy, 32 [RCV005091808]\|Inborn genetic diseases [RCV000623719]	uncertain significance	1	110604089	110604089	Human	2	name
13625186	CV514981	duplication	NM_004974.4(KCNA2):c.1031dup (p.Ser344fs)	Developmental and epileptic encephalopathy, 32 [RCV000653134]	uncertain significance	1	110603751	110603752	Human	1	name
13625184	CV514988	single nucleotide variant	NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys)	Developmental and epileptic encephalopathy, 32 [RCV000653132]\|not provided [RCV001092061]	likely pathogenic\|uncertain significance	1	110604236	110604236	Human	1	name
13822569	CV556552	single nucleotide variant	NM_004974.4(KCNA2):c.997T>C (p.Phe333Leu)	Developmental and epileptic encephalopathy, 32 [RCV000697415]	uncertain significance	1	110603786	110603786	Human	1	name
13818357	CV556554	single nucleotide variant	NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe)	Developmental and epileptic encephalopathy, 32 [RCV000707653]	uncertain significance	1	110603822	110603822	Human	1	name
13814835	CV556583	single nucleotide variant	NM_004974.4(KCNA2):c.841G>A (p.Ala281Thr)	Developmental and epileptic encephalopathy, 32 [RCV000705301]	uncertain significance	1	110603942	110603942	Human	1	name
13817148	CV556585	single nucleotide variant	NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg)	Developmental and epileptic encephalopathy, 32 [RCV000706824]	uncertain significance	1	110604152	110604152	Human	1	name
13807625	CV556974	single nucleotide variant	NM_004974.4(KCNA2):c.851G>A (p.Gly284Asp)	Developmental and epileptic encephalopathy, 32 [RCV000701240]	likely benign\|uncertain significance	1	110603932	110603932	Human	1	name
13813083	CV556976	single nucleotide variant	NM_004974.4(KCNA2):c.565C>T (p.Arg189Trp)	Developmental and epileptic encephalopathy, 32 [RCV000689902]	uncertain significance	1	110604218	110604218	Human	1	name
13829525	CV578709	single nucleotide variant	NM_004974.4(KCNA2):c.590G>A (p.Gly197Asp)	Developmental and epileptic encephalopathy, 32 [RCV002067038]\|Inborn genetic diseases [RCV002315377]	likely benign\|uncertain significance	1	110604193	110604193	Human	2	name
14720161	CV626573	single nucleotide variant	NM_004974.4(KCNA2):c.844C>T (p.Gln282Ter)	Developmental and epileptic encephalopathy, 32 [RCV000812918]	uncertain significance	1	110603939	110603939	Human	1	name
14708026	CV626574	single nucleotide variant	NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser)	Developmental and epileptic encephalopathy, 32 [RCV000792480]\|not provided [RCV004721603]	uncertain significance	1	110604088	110604088	Human	1	name
26898131	CV822495	single nucleotide variant	NM_004974.4(KCNA2):c.782T>C (p.Val261Ala)	Developmental and epileptic encephalopathy, 32 [RCV001048797]	uncertain significance	1	110604001	110604001	Human	1	name
26912386	CV822496	single nucleotide variant	NM_004974.4(KCNA2):c.761T>A (p.Ile254Asn)	Developmental and epileptic encephalopathy, 32 [RCV001053486]	uncertain significance	1	110604022	110604022	Human	1	name
26913910	CV822497	single nucleotide variant	NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser)	Developmental and epileptic encephalopathy, 32 [RCV001054573]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	110604038	110604038	Human	1	name
26894568	CV822499	single nucleotide variant	NM_004974.4(KCNA2):c.466C>T (p.Pro156Ser)	Developmental and epileptic encephalopathy, 32 [RCV001069378]	uncertain significance	1	110604317	110604317	Human	1	name
26920601	CV822500	single nucleotide variant	NM_004974.4(KCNA2):c.351G>T (p.Glu117Asp)	Developmental and epileptic encephalopathy, 32 [RCV001060147]	uncertain significance	1	110604432	110604432	Human	1	name
38484809	CV921564	single nucleotide variant	NM_004974.4(KCNA2):c.754A>G (p.Thr252Ala)	Developmental and epileptic encephalopathy, 32 [RCV001219585]	uncertain significance	1	110604029	110604029	Human	1	name
38484409	CV921565	single nucleotide variant	NM_004974.4(KCNA2):c.611C>T (p.Thr204Ile)	Developmental and epileptic encephalopathy, 32 [RCV001219420]	likely benign\|uncertain significance	1	110604172	110604172	Human	1	name
38461004	CV941368	single nucleotide variant	NM_004974.4(KCNA2):c.625A>G (p.Thr209Ala)	Developmental and epileptic encephalopathy, 32 [RCV001229455]	uncertain significance	1	110604158	110604158	Human	1	name
38461245	CV952010	single nucleotide variant	NM_004974.4(KCNA2):c.737G>T (p.Ser246Ile)	Developmental and epileptic encephalopathy, 32 [RCV001246898]	uncertain significance	1	110604046	110604046	Human	1	name
38457816	CV962858	single nucleotide variant	NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter)	Developmental and epileptic encephalopathy, 32 [RCV001250736]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	110604485	110604485	Human	1	name
38597116	CV964109	single nucleotide variant	NM_004974.4(KCNA2):c.929A>G (p.His310Arg)	Developmental and epileptic encephalopathy, 32 [RCV001252957]	likely pathogenic	1	110603854	110603854	Human	1	name
40887177	CV973123	single nucleotide variant	NM_004974.4(KCNA2):c.869T>G (p.Leu290Arg)	Inborn genetic diseases [RCV001266632]	likely pathogenic	1	110603914	110603914	Human	1	name
40889739	CV974944	single nucleotide variant	NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp)	Developmental and epileptic encephalopathy, 32 [RCV001382054]\|not provided [RCV001268184]	pathogenic	1	110603894	110603894	Human	1	name
126764880	CV986796	single nucleotide variant	NM_004974.4(KCNA2):c.920T>G (p.Leu307Trp)	Developmental and epileptic encephalopathy, 32 [RCV001301272]	uncertain significance	1	110603863	110603863	Human	1	name
126758274	CV986797	single nucleotide variant	NM_004974.4(KCNA2):c.776A>C (p.Asp259Ala)	Developmental and epileptic encephalopathy, 32 [RCV001308671]	uncertain significance	1	110604007	110604007	Human	1	name
126766494	CV986798	single nucleotide variant	NM_004974.4(KCNA2):c.544C>A (p.Leu182Met)	Developmental and epileptic encephalopathy, 32 [RCV001301901]\|Inborn genetic diseases [RCV002350546]	uncertain significance	1	110604239	110604239	Human	2	name
126754588	CV986799	single nucleotide variant	NM_004974.4(KCNA2):c.422C>A (p.Pro141His)	Developmental and epileptic encephalopathy, 32 [RCV001307665]\|not provided [RCV004779051]	uncertain significance	1	110604361	110604361	Human	1	name
126732394	CV986800	single nucleotide variant	NM_004974.4(KCNA2):c.364G>A (p.Ala122Thr)	Developmental and epileptic encephalopathy, 32 [RCV001294554]	uncertain significance	1	110604419	110604419	Human	1	name
126750555	CV1002015	single nucleotide variant	NM_004974.4(KCNA2):c.1372T>C (p.Tyr458His)	Developmental and epileptic encephalopathy, 32 [RCV001315941]	uncertain significance	1	110603411	110603411	Human	1	name
126767984	CV1002016	single nucleotide variant	NM_004974.4(KCNA2):c.1354A>T (p.Thr452Ser)	Developmental and epileptic encephalopathy, 32 [RCV001321096]	uncertain significance	1	110603429	110603429	Human	1	name
126761251	CV1002017	single nucleotide variant	NM_004974.4(KCNA2):c.1196T>G (p.Val399Gly)	Developmental and epileptic encephalopathy, 32 [RCV001318583]	uncertain significance	1	110603587	110603587	Human	1	name
126766270	CV1022528	single nucleotide variant	NM_004974.4(KCNA2):c.1065G>T (p.Glu355Asp)	Developmental and epileptic encephalopathy, 32 [RCV001342357]	uncertain significance	1	110603718	110603718	Human	1	name
126916566	CV1039344	single nucleotide variant	NM_004974.4(KCNA2):c.1248C>A (p.Phe416Leu)	Developmental and epileptic encephalopathy, 32 [RCV001371579]\|not provided [RCV001751734]	uncertain significance	1	110603535	110603535	Human	1	name
126912817	CV1039345	single nucleotide variant	NM_004974.4(KCNA2):c.1175C>T (p.Ser392Phe)	Developmental and epileptic encephalopathy, 32 [RCV001369873]	uncertain significance	1	110603608	110603608	Human	1	name
127253749	CV1054726	single nucleotide variant	NM_004974.4(KCNA2):c.1220C>G (p.Pro407Arg)	Developmental and epileptic encephalopathy, 32 [RCV001379013]	pathogenic\|likely pathogenic	1	110603563	110603563	Human	1	name
127257726	CV1054727	single nucleotide variant	NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile)	Developmental and epileptic encephalopathy, 32 [RCV001379814]	likely pathogenic	1	110603573	110603573	Human	1	name
127319495	CV1109274	single nucleotide variant	NM_004974.4(KCNA2):c.1385A>G (p.Gln462Arg)	Developmental and epileptic encephalopathy, 32 [RCV001466556]	likely benign	1	110603398	110603398	Human	1	name
150427106	CV1186033	single nucleotide variant	NM_004974.4(KCNA2):c.1135G>C (p.Asp379His)	not provided [RCV001560488]	likely pathogenic	1	110603648	110603648	Human		name
150507539	CV1244591	single nucleotide variant	NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp)	Developmental and epileptic encephalopathy, 32 [RCV002290738]\|not provided [RCV001658840]	uncertain significance	1	110603528	110603528	Human	1	name
150555077	CV1295885	single nucleotide variant	NM_004974.4(KCNA2):c.1304G>A (p.Cys435Tyr)	Developmental and epileptic encephalopathy, 32 [RCV002032863]\|not provided [RCV001772394]	uncertain significance	1	110603479	110603479	Human	1	name
150554221	CV1296623	single nucleotide variant	NM_004974.4(KCNA2):c.1022T>C (p.Leu341Pro)	Developmental and epileptic encephalopathy, 32 [RCV003753193]\|not provided [RCV001770860]	uncertain significance	1	110603761	110603761	Human	1	name
150545821	CV1296930	single nucleotide variant	NM_004974.4(KCNA2):c.1390G>A (p.Gly464Ser)	not provided [RCV001763221]	uncertain significance	1	110603393	110603393	Human		name
150551106	CV1297180	single nucleotide variant	NM_004974.4(KCNA2):c.1438G>A (p.Ala480Thr)	not provided [RCV001766862]	uncertain significance	1	110603345	110603345	Human		name
150545774	CV1297581	single nucleotide variant	NM_004974.4(KCNA2):c.1205T>C (p.Ile402Thr)	Developmental and epileptic encephalopathy, 32 [RCV002034469]\|Inborn genetic diseases [RCV004988724]\|not provided [RCV001763169]	likely pathogenic\|uncertain significance	1	110603578	110603578	Human	2	name
150528217	CV1301743	single nucleotide variant	NM_004974.4(KCNA2):c.1445G>C (p.Cys482Ser)	not provided [RCV001755115]	uncertain significance	1	110603338	110603338	Human		name
151662444	CV1333118	single nucleotide variant	NM_004974.4(KCNA2):c.1375A>G (p.Met459Val)	Developmental and epileptic encephalopathy, 32 [RCV001837351]	uncertain significance	1	110603408	110603408	Human	1	name
151787724	CV1345826	single nucleotide variant	NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile)	Developmental and epileptic encephalopathy, 32 [RCV001897870]	uncertain significance	1	110603567	110603567	Human	1	name
151772174	CV1417928	single nucleotide variant	NM_004974.4(KCNA2):c.1147A>C (p.Thr383Pro)	Developmental and epileptic encephalopathy, 32 [RCV001874560]	uncertain significance	1	110603636	110603636	Human	1	name
151806408	CV1453433	single nucleotide variant	NM_004974.4(KCNA2):c.1204A>G (p.Ile402Val)	Developmental and epileptic encephalopathy, 32 [RCV001877841]\|Inborn genetic diseases [RCV004040621]	uncertain significance	1	110603579	110603579	Human	2	name
151768403	CV1457651	single nucleotide variant	NM_004974.4(KCNA2):c.1169T>G (p.Val390Gly)	Developmental and epileptic encephalopathy, 32 [RCV001949920]	uncertain significance	1	110603614	110603614	Human	1	name
151747430	CV1485348	single nucleotide variant	NM_004974.4(KCNA2):c.1103C>A (p.Ala368Glu)	Developmental and epileptic encephalopathy, 32 [RCV002006472]	uncertain significance	1	110603680	110603680	Human	1	name
151865291	CV1509778	single nucleotide variant	NM_004974.4(KCNA2):c.1034C>T (p.Ala345Val)	Developmental and epileptic encephalopathy, 32 [RCV001924524]	uncertain significance	1	110603749	110603749	Human	1	name
151811389	CV1516817	single nucleotide variant	NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala)	Developmental and epileptic encephalopathy, 32 [RCV002012470]\|Inborn genetic diseases [RCV002608080]	uncertain significance	1	110603429	110603429	Human	2	name
152156445	CV1668539	single nucleotide variant	NM_004974.4(KCNA2):c.1291C>G (p.Gln431Glu)	Inborn genetic diseases [RCV003164310]\|not provided [RCV002222821]	uncertain significance	1	110603492	110603492	Human	1	name
155267085	CV1699421	single nucleotide variant	NM_004974.4(KCNA2):c.1135G>A (p.Asp379Asn)	not provided [RCV002283216]	uncertain significance	1	110603648	110603648	Human		name
155677172	CV1771844	single nucleotide variant	NM_004974.4(KCNA2):c.1054G>A (p.Asp352Asn)	Developmental and epileptic encephalopathy, 32 [RCV002297863]	uncertain significance	1	110603729	110603729	Human	1	name
155723763	CV1773578	single nucleotide variant	NM_004974.4(KCNA2):c.1129T>C (p.Tyr377His)	Developmental and epileptic encephalopathy, 32 [RCV002301382]	uncertain significance	1	110603654	110603654	Human	1	name
155750024	CV1774940	single nucleotide variant	NM_004974.4(KCNA2):c.1144C>G (p.Pro382Ala)	Developmental and epileptic encephalopathy, 32 [RCV002305270]	uncertain significance	1	110603639	110603639	Human	1	name
155700807	CV1776136	single nucleotide variant	NM_004974.4(KCNA2):c.1169T>A (p.Val390Glu)	Developmental and epileptic encephalopathy, 32 [RCV002299957]	uncertain significance	1	110603614	110603614	Human	1	name
155719710	CV1835674	single nucleotide variant	NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)	Developmental and epileptic encephalopathy, 32 [RCV003094929]\|Inborn genetic diseases [RCV002380675]	uncertain significance	1	110603486	110603486	Human	2	name
155800219	CV1860073	single nucleotide variant	NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)	Developmental and epileptic encephalopathy, 32 [RCV002466341]\|Inborn genetic diseases [RCV004617035]	pathogenic\|likely pathogenic	1	110603653	110603653	Human	2	name
156407065	CV1874783	single nucleotide variant	NM_004974.4(KCNA2):c.1445G>A (p.Cys482Tyr)	Developmental and epileptic encephalopathy, 32 [RCV003070714]	uncertain significance	1	110603338	110603338	Human	1	name
156395481	CV1877132	single nucleotide variant	NM_004974.4(KCNA2):c.1256G>T (p.Arg419Leu)	Developmental and epileptic encephalopathy, 32 [RCV003068539]	likely benign\|uncertain significance	1	110603527	110603527	Human	1	name
10044330	CV188152	single nucleotide variant	NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)	Developmental and epileptic encephalopathy, 32 [RCV000170511]\|Inborn genetic diseases [RCV002517634]\|Seizure [RCV004546448]\|not provided [RCV000407449]	pathogenic\|likely pathogenic	1	110603569	110603569	Human	4	name
156288921	CV2058365	single nucleotide variant	NM_004974.4(KCNA2):c.1071G>T (p.Gln357His)	Developmental and epileptic encephalopathy, 32 [RCV002833116]	uncertain significance	1	110603712	110603712	Human	1	name
155987973	CV2094240	single nucleotide variant	NM_004974.4(KCNA2):c.1340G>T (p.Ser447Ile)	Developmental and epileptic encephalopathy, 32 [RCV002882252]	uncertain significance	1	110603443	110603443	Human	1	name
155977519	CV2147582	single nucleotide variant	NM_004974.4(KCNA2):c.1060C>T (p.Arg354Ter)	Developmental and epileptic encephalopathy, 32 [RCV003033720]\|not provided [RCV004725463]	uncertain significance	1	110603723	110603723	Human	1	name
156081409	CV2184182	single nucleotide variant	NM_004974.4(KCNA2):c.1171G>T (p.Gly391Cys)	Developmental and epileptic encephalopathy, 32 [RCV003054040]	uncertain significance	1	110603612	110603612	Human	1	name
155902607	CV2301473	single nucleotide variant	NM_004974.4(KCNA2):c.1312A>G (p.Ile438Val)	Inborn genetic diseases [RCV002901294]	uncertain significance	1	110603471	110603471	Human	1	name
243049663	CV2404569	single nucleotide variant	NM_004974.4(KCNA2):c.1220C>T (p.Pro407Leu)	Developmental and epileptic encephalopathy, 32 [RCV003129596]	likely pathogenic	1	110603563	110603563	Human	1	name
401724374	CV2672255	single nucleotide variant	NM_004974.4(KCNA2):c.1495G>A (p.Val499Ile)	not provided [RCV003239156]	uncertain significance	1	110603288	110603288	Human		name
401733246	CV2736824	single nucleotide variant	NM_004974.4(KCNA2):c.1324C>T (p.Pro442Ser)	not provided [RCV003313586]	uncertain significance	1	110603459	110603459	Human		name
401876178	CV2750161	single nucleotide variant	NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)	Developmental and epileptic encephalopathy, 32 [RCV003333604]	uncertain significance	1	110603557	110603557	Human	1	name
405189456	CV2856334	single nucleotide variant	NM_004974.4(KCNA2):c.1207G>T (p.Ala403Ser)	Developmental and epileptic encephalopathy, 32 [RCV003589775]	uncertain significance	1	110603576	110603576	Human	1	name
405184715	CV2896558	single nucleotide variant	NM_004974.4(KCNA2):c.1213C>T (p.Pro405Ser)	Developmental and epileptic encephalopathy, 32 [RCV003589227]	uncertain significance	1	110603570	110603570	Human	1	name
405186372	CV2912708	single nucleotide variant	NM_004974.4(KCNA2):c.1211T>C (p.Leu404Ser)	Developmental and epileptic encephalopathy, 32 [RCV003589419]	uncertain significance	1	110603572	110603572	Human	1	name
405192907	CV2914795	single nucleotide variant	NM_004974.4(KCNA2):c.1193G>A (p.Gly398Asp)	Developmental and epileptic encephalopathy, 32 [RCV003590168]	pathogenic	1	110603590	110603590	Human	1	name
405186163	CV2918676	single nucleotide variant	NM_004974.4(KCNA2):c.1228G>A (p.Val410Met)	Developmental and epileptic encephalopathy, 32 [RCV003589395]	uncertain significance	1	110603555	110603555	Human	1	name
405192761	CV2920221	single nucleotide variant	NM_004974.4(KCNA2):c.1036G>A (p.Val346Met)	Developmental and epileptic encephalopathy, 32 [RCV003590074]	uncertain significance	1	110603747	110603747	Human	1	name
405130377	CV2975825	single nucleotide variant	NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)	Developmental and epileptic encephalopathy, 32 [RCV003754145]	uncertain significance	1	110603366	110603366	Human	1	name
405131618	CV2977844	single nucleotide variant	NM_004974.4(KCNA2):c.1311G>T (p.Lys437Asn)	Developmental and epileptic encephalopathy, 32 [RCV003754276]	uncertain significance	1	110603472	110603472	Human	1	name
405131975	CV2978478	single nucleotide variant	NM_004974.4(KCNA2):c.1015G>T (p.Val339Phe)	Developmental and epileptic encephalopathy, 32 [RCV003754313]	pathogenic	1	110603768	110603768	Human	1	name
405131167	CV2984070	single nucleotide variant	NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)	Developmental and epileptic encephalopathy, 32 [RCV003754229]	uncertain significance	1	110603507	110603507	Human	1	name
405132533	CV2986147	single nucleotide variant	NM_004974.4(KCNA2):c.1118C>A (p.Thr373Lys)	Developmental and epileptic encephalopathy, 32 [RCV003754346]	uncertain significance	1	110603665	110603665	Human	1	name
405118316	CV3019701	single nucleotide variant	NM_004974.4(KCNA2):c.1184C>G (p.Ala395Gly)	Developmental and epileptic encephalopathy, 32 [RCV003752672]	uncertain significance	1	110603599	110603599	Human	1	name
405118506	CV3023635	single nucleotide variant	NM_004974.4(KCNA2):c.1178T>A (p.Leu393Gln)	Developmental and epileptic encephalopathy, 32 [RCV003752696]	uncertain significance	1	110603605	110603605	Human	1	name
405698198	CV3226950	single nucleotide variant	NM_004974.4(KCNA2):c.1070A>C (p.Gln357Pro)	not provided [RCV003993344]	uncertain significance	1	110603713	110603713	Human		name
408386022	CV3415498	single nucleotide variant	NM_004974.4(KCNA2):c.1225A>C (p.Ile409Leu)	Developmental and epileptic encephalopathy, 32 [RCV004767599]	likely pathogenic	1	110603558	110603558	Human	1	name
408390625	CV3519450	single nucleotide variant	NM_004974.4(KCNA2):c.1159G>C (p.Gly387Arg)	not provided [RCV004762759]	uncertain significance	1	110603624	110603624	Human		name
408393156	CV3528379	single nucleotide variant	NM_004974.4(KCNA2):c.1424A>C (p.Glu475Ala)	not provided [RCV004776147]	uncertain significance	1	110603359	110603359	Human		name
596923440	CV3530425	single nucleotide variant	NM_004974.4(KCNA2):c.1375A>T (p.Met459Leu)	not provided [RCV004777024]	uncertain significance	1	110603408	110603408	Human		name
596932386	CV3539006	single nucleotide variant	NM_004974.4(KCNA2):c.1063G>C (p.Glu355Gln)	not provided [RCV004793132]	uncertain significance	1	110603720	110603720	Human		name
597656037	CV3552319	single nucleotide variant	NM_004974.4(KCNA2):c.1140G>C (p.Met380Ile)	Developmental and epileptic encephalopathy, 32 [RCV004821177]	likely pathogenic	1	110603643	110603643	Human	1	name
597906502	CV3738767	single nucleotide variant	NM_004974.4(KCNA2):c.1346G>A (p.Ser449Asn)	Developmental and epileptic encephalopathy, 32 [RCV005073002]	uncertain significance	1	110603437	110603437	Human	1	name
597961424	CV3753244	single nucleotide variant	NM_004974.4(KCNA2):c.1084C>T (p.Pro362Ser)	Developmental and epileptic encephalopathy, 32 [RCV005081744]	uncertain significance	1	110603699	110603699	Human	1	name
597937661	CV3759973	single nucleotide variant	NM_004974.4(KCNA2):c.1258G>C (p.Glu420Gln)	Developmental and epileptic encephalopathy, 32 [RCV005076895]	uncertain significance	1	110603525	110603525	Human	1	name
597910143	CV3782086	single nucleotide variant	NM_004974.4(KCNA2):c.1121C>T (p.Thr374Ile)	Developmental and epileptic encephalopathy, 32 [RCV005128578]	uncertain significance	1	110603662	110603662	Human	1	name
597895828	CV3785997	single nucleotide variant	NM_004974.4(KCNA2):c.1172G>A (p.Gly391Asp)	Developmental and epileptic encephalopathy, 32 [RCV005126370]	uncertain significance	1	110603611	110603611	Human	1	name
597927866	CV3788734	single nucleotide variant	NM_004974.4(KCNA2):c.1307C>T (p.Pro436Leu)	Developmental and epileptic encephalopathy, 32 [RCV005131212]	uncertain significance	1	110603476	110603476	Human	1	name
597974090	CV3801736	single nucleotide variant	NM_004974.4(KCNA2):c.1048G>T (p.Glu350Ter)	Developmental and epileptic encephalopathy, 32 [RCV005143725]	uncertain significance	1	110603735	110603735	Human	1	name
597960940	CV3812002	single nucleotide variant	NM_004974.4(KCNA2):c.1477A>G (p.Thr493Ala)	Developmental and epileptic encephalopathy, 32 [RCV005163655]	uncertain significance	1	110603306	110603306	Human	1	name
597928276	CV3816114	single nucleotide variant	NM_004974.4(KCNA2):c.1442A>G (p.Asn481Ser)	Developmental and epileptic encephalopathy, 32 [RCV005156695]	uncertain significance	1	110603341	110603341	Human	1	name
597963147	CV3819543	single nucleotide variant	NM_004974.4(KCNA2):c.1302C>G (p.Ser434Arg)	Developmental and epileptic encephalopathy, 32 [RCV005164259]	uncertain significance	1	110603481	110603481	Human	1	name
597836093	CV3828150	single nucleotide variant	NM_004974.4(KCNA2):c.1422G>C (p.Glu474Asp)	Developmental and epileptic encephalopathy, 32 [RCV005171042]	uncertain significance	1	110603361	110603361	Human	1	name
597938366	CV3852653	single nucleotide variant	NM_004974.4(KCNA2):c.1046C>T (p.Ala349Val)	Developmental and epileptic encephalopathy, 32 [RCV005187052]	uncertain significance	1	110603737	110603737	Human	1	name
597892745	CV3856767	single nucleotide variant	NM_004974.4(KCNA2):c.1150A>G (p.Thr384Ala)	Developmental and epileptic encephalopathy, 32 [RCV005200836]	uncertain significance	1	110603633	110603633	Human	1	name
597918798	CV3861600	single nucleotide variant	NM_004974.4(KCNA2):c.1052C>T (p.Ala351Val)	Developmental and epileptic encephalopathy, 32 [RCV005204756]	uncertain significance	1	110603731	110603731	Human	1	name
597930461	CV3862233	single nucleotide variant	NM_004974.4(KCNA2):c.1399A>G (p.Asn467Asp)	Developmental and epileptic encephalopathy, 32 [RCV005206474]	uncertain significance	1	110603384	110603384	Human	1	name
598129116	CV3888409	single nucleotide variant	NM_004974.4(KCNA2):c.1105G>T (p.Val369Phe)	not provided [RCV005244583]	uncertain significance	1	110603678	110603678	Human		name
12894582	CV404879	single nucleotide variant	NM_004974.4(KCNA2):c.1195G>A (p.Val399Met)	Developmental and epileptic encephalopathy, 32 [RCV000723323]\|KCN2A-related disorder [RCV001824800]\|not provided [RCV000483386]	pathogenic\|likely pathogenic\|not provided	1	110603588	110603588	Human	1	name
12913772	CV421155	single nucleotide variant	NM_004974.4(KCNA2):c.1202C>T (p.Thr401Ile)	not provided [RCV000494245]	pathogenic\|likely pathogenic	1	110603581	110603581	Human		name
12914123	CV421156	single nucleotide variant	NM_004974.4(KCNA2):c.1084C>G (p.Pro362Ala)	not provided [RCV000494680]	likely pathogenic	1	110603699	110603699	Human		name
13478759	CV442578	single nucleotide variant	NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)	Developmental and epileptic encephalopathy, 32 [RCV000986393]\|not provided [RCV000520764]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	110603665	110603665	Human	1	name
13498901	CV447086	single nucleotide variant	NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln)	Developmental and epileptic encephalopathy, 32 [RCV000539492]	uncertain significance	1	110603527	110603527	Human	1	name
13625187	CV515005	single nucleotide variant	NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser)	Developmental and epileptic encephalopathy, 32 [RCV000653135]	uncertain significance	1	110603479	110603479	Human	1	name
13625189	CV515018	single nucleotide variant	NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe)	Developmental and epileptic encephalopathy, 32 [RCV000653137]	pathogenic\|likely pathogenic\|uncertain significance	1	110603567	110603567	Human	1	name
13625220	CV515024	single nucleotide variant	NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr)	Developmental and epileptic encephalopathy, 32 [RCV000653133]\|Inborn genetic diseases [RCV002360660]	uncertain significance	1	110603629	110603629	Human	2	name
13625183	CV515037	single nucleotide variant	NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu)	Developmental and epileptic encephalopathy, 32 [RCV000653131]\|not provided [RCV001531007]	pathogenic\|likely pathogenic	1	110603770	110603770	Human	1	name
13786243	CV550344	single nucleotide variant	NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)	Developmental and epileptic encephalopathy, 32 [RCV000677419]	pathogenic	1	110603663	110603663	Human	1	name
13805067	CV556550	single nucleotide variant	NM_004974.4(KCNA2):c.1127G>C (p.Gly376Ala)	Developmental and epileptic encephalopathy, 32 [RCV000699887]	uncertain significance	1	110603656	110603656	Human	1	name
13810079	CV556581	single nucleotide variant	NM_004974.4(KCNA2):c.1145C>T (p.Pro382Leu)	Developmental and epileptic encephalopathy, 32 [RCV000702425]\|not provided [RCV001759400]	uncertain significance	1	110603638	110603638	Human	1	name
13808886	CV556834	single nucleotide variant	NM_004974.4(KCNA2):c.1028C>T (p.Ser343Phe)	Developmental and epileptic encephalopathy, 32 [RCV000701882]	uncertain significance	1	110603755	110603755	Human	1	name
14396677	CV612491	single nucleotide variant	NM_004974.4(KCNA2):c.1250A>G (p.Tyr417Cys)	Developmental and epileptic encephalopathy, 32 [RCV001319318]\|not provided [RCV000761675]	uncertain significance	1	110603533	110603533	Human	1	name
14396678	CV612492	single nucleotide variant	NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala)	Developmental and epileptic encephalopathy, 32 [RCV001217681]\|not provided [RCV000761676]	pathogenic\|likely pathogenic	1	110603564	110603564	Human	1	name
14736350	CV626572	single nucleotide variant	NM_004974.4(KCNA2):c.1242C>G (p.Asn414Lys)	Developmental and epileptic encephalopathy, 32 [RCV000819981]	uncertain significance	1	110603541	110603541	Human	1	name
14702731	CV653844	single nucleotide variant	NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala)	Developmental and epileptic encephalopathy, 32 [RCV000824855]	pathogenic	1	110603560	110603560	Human	1	name
21066662	CV792820	single nucleotide variant	NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg)	Developmental and epileptic encephalopathy, 32 [RCV002067593]\|Inborn genetic diseases [RCV004030137]\|not provided [RCV000992217]	likely benign\|uncertain significance	1	110603350	110603350	Human	2	name
21071649	CV794368	single nucleotide variant	NM_004974.4(KCNA2):c.1184C>T (p.Ala395Val)	not provided [RCV000994066]	uncertain significance	1	110603599	110603599	Human		name
26897923	CV821810	single nucleotide variant	NM_004974.4(KCNA2):c.1380G>T (p.Glu460Asp)	Developmental and epileptic encephalopathy, 32 [RCV001034363]	likely benign	1	110603403	110603403	Human	1	name
26918562	CV822493	single nucleotide variant	NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly)	Developmental and epileptic encephalopathy, 32 [RCV001058042]	likely pathogenic\|uncertain significance	1	110603560	110603560	Human	1	name
26921159	CV822494	single nucleotide variant	NM_004974.4(KCNA2):c.1061G>A (p.Arg354Gln)	Developmental and epileptic encephalopathy, 32 [RCV001060720]\|KCNA2-related disorder [RCV004547966]	likely benign\|uncertain significance	1	110603722	110603722	Human	1	name , trait , alternate_id
28888270	CV858825	single nucleotide variant	NM_004974.4(KCNA2):c.1208C>T (p.Ala403Val)	Developmental and epileptic encephalopathy, 32 [RCV001217730]\|not provided [RCV001092059]	likely pathogenic\|uncertain significance	1	110603575	110603575	Human	1	name
38472133	CV929952	single nucleotide variant	NM_004974.4(KCNA2):c.1108G>A (p.Val370Ile)	Developmental and epileptic encephalopathy, 32 [RCV001203043]	uncertain significance	1	110603675	110603675	Human	1	name
38486816	CV929953	single nucleotide variant	NM_004974.4(KCNA2):c.1067C>G (p.Ser356Cys)	Developmental and epileptic encephalopathy, 32 [RCV001209057]	uncertain significance	1	110603716	110603716	Human	1	name
38494761	CV952009	single nucleotide variant	NM_004974.4(KCNA2):c.1214C>G (p.Pro405Arg)	Developmental and epileptic encephalopathy, 32 [RCV001241518]	uncertain significance	1	110603569	110603569	Human	1	name
39456434	CV965458	single nucleotide variant	NM_004974.4(KCNA2):c.1496T>C (p.Val499Ala)	Developmental and epileptic encephalopathy, 32 [RCV004799310]	uncertain significance	1	110603287	110603287	Human	1	name
126740619	CV986793	single nucleotide variant	NM_004974.4(KCNA2):c.1466A>G (p.Tyr489Cys)	Developmental and epileptic encephalopathy, 32 [RCV001295788]	uncertain significance	1	110603317	110603317	Human	1	name
126758058	CV986794	single nucleotide variant	NM_004974.4(KCNA2):c.1242C>A (p.Asn414Lys)	Developmental and epileptic encephalopathy, 32 [RCV001299071]	uncertain significance	1	110603541	110603541	Human	1	name
126735233	CV986795	single nucleotide variant	NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser)	Developmental and epileptic encephalopathy, 32 [RCV001295048]	likely pathogenic\|uncertain significance	1	110603564	110603564	Human	1	name
150462226	CV1234881	microsatellite	NM_004974.4(KCNA2):c.1454_1455insTACACACA	not provided [RCV001649463]	benign	1	110601828	110601829	Human		name
14735594	CV626575	deletion	NM_004974.4(KCNA2):c.282_283del (p.Gly96fs)	Developmental and epileptic encephalopathy, 32 [RCV000803234]\|not provided [RCV004588265]	uncertain significance	1	110604500	110604501	Human	1	name
156028008	CV2096795	deletion	NM_004974.4(KCNA2):c.861_862del (p.Met288fs)	Developmental and epileptic encephalopathy, 32 [RCV002885272]	uncertain significance	1	110603921	110603922	Human	1	name
405129787	CV2968403	deletion	NM_004974.4(KCNA2):c.720_721del (p.Arg240fs)	Developmental and epileptic encephalopathy, 32 [RCV003754085]	uncertain significance	1	110604062	110604063	Human	1	name
26891513	CV822498	microsatellite	NM_004974.4(KCNA2):c.684_685del (p.Cys229fs)	Developmental and epileptic encephalopathy, 32 [RCV001046493]\|not provided [RCV002280152]	uncertain significance	1	110604098	110604099	Human		name
150433358	CV1203648	microsatellite	NM_004974.4(KCNA2):c.1454_1455insTACACACACA	not provided [RCV001581804]	likely benign	1	110601828	110601829	Human		name
151709791	CV1361035	deletion	NM_004974.4(KCNA2):c.1263_1266del (p.Gly423fs)	Developmental and epileptic encephalopathy, 32 [RCV001889126]	uncertain significance	1	110603517	110603520	Human	1	name
155681465	CV1817220	deletion	NM_004974.4(KCNA2):c.1266_1344del (p.Gly423fs)	Inborn genetic diseases [RCV002371166]	uncertain significance	1	110603439	110603517	Human	1	name
597947736	CV3800778	deletion	NM_004974.4(KCNA2):c.1401_1402del (p.Asn467fs)	Developmental and epileptic encephalopathy, 32 [RCV005135178]	uncertain significance	1	110603381	110603382	Human	1	name
12893361	CV404878	microsatellite	NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs)	Developmental and epileptic encephalopathy, 32 [RCV001233488]\|Seizure [RCV004546507]\|not provided [RCV000478745]	pathogenic\|likely pathogenic\|uncertain significance	1	110603517	110603518	Human		name
150466040	CV1201178	microsatellite	NM_004974.4(KCNA2):c.1454_1455insTACACACACACA	not provided [RCV001587658]	likely benign	1	110601828	110601829	Human		name
156024712	CV2077966	deletion	NM_004974.4(KCNA2):c.1018_1020del (p.Ile340del)	Developmental and epileptic encephalopathy, 32 [RCV002866778]	uncertain significance	1	110603763	110603765	Human	1	name
150557097	CV1310430	deletion	NM_004974.4(KCNA2):c.196del (p.Arg65_Met66insTer)	Developmental and epileptic encephalopathy, 32 [RCV001775358]	likely pathogenic	1	110604587	110604587	Human	1	name
405137844	CV3028575	indel	NM_004974.4(KCNA2):c.894_895delinsAC (p.Val299Leu)	Developmental and epileptic encephalopathy, 32 [RCV003754853]	uncertain significance	1	110603888	110603889	Human		name
127267933	CV1058375	deletion	NM_004974.4(KCNA2):c.765_773del (p.Met255_Ile257del)	Developmental and epileptic encephalopathy, 32 [RCV001382055]	pathogenic	1	110604010	110604018	Human	1	name
151871884	CV1437123	deletion	NM_004974.4(KCNA2):c.443_454del (p.Gln148_Leu151del)	Developmental and epileptic encephalopathy, 32 [RCV002035777]	uncertain significance	1	110604329	110604340	Human	1	name
596927406	CV3532583	deletion	NM_004974.4(KCNA2):c.321_335del (p.Asp107_Glu111del)	not provided [RCV004778681]	uncertain significance	1	110604448	110604462	Human		name
151884871	CV1494233	deletion	NM_004974.4(KCNA2):c.905_906del (p.Val301_Phe302insTer)	Developmental and epileptic encephalopathy, 32 [RCV001962425]	uncertain significance	1	110603877	110603878	Human	1	name
329848551	CV2523295	indel	NM_004974.4(KCNA2):c.1435_1439delinsCTGTTTT (p.Thr479fs)	not provided [RCV003225309]	uncertain significance	1	110603344	110603348	Human		name
126917681	CV1039346	duplication	NM_004974.4(KCNA2):c.1028_1037dup (p.Val346_Tyr347insTer)	Developmental and epileptic encephalopathy, 32 [RCV001361306]	uncertain significance	1	110603745	110603746	Human	1	name
150536141	CV1312302	indel	NM_004974.4(KCNA2):c.894_895delinsTT (p.Leu298_Val299delinsPheLeu)	Neurodevelopmental disorder [RCV001780064]	likely pathogenic	1	110603888	110603889	Human		name

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