Arx Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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928 records found for search term Arx

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
14692497	CV614670	variation	ARX, ARG2085HIS	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV000768673]	pathogenic				Human		name , trait
8562240	CV26230	deletion	ARX, 1-BP DEL, 790C	Lissencephaly 2, X-linked [RCV000011942]\|X-linked lissencephaly 2 [RCV000011942]	pathogenic				Human		name
8562251	CV26243	deletion	ARX, 1-BP DEL, 617G	Lissencephaly 2, X-linked [RCV000011955]\|X-linked lissencephaly 2 [RCV000011955]	pathogenic				Human		name
8562245	CV26235	deletion	ARX, 1-BP DEL, 1372G	Lissencephaly 2, X-linked [RCV000011947]\|X-linked lissencephaly 2 [RCV000011947]	pathogenic				Human		name
8591638	CV26245	deletion	ARX, 1-BP DEL, 1465G	Epileptic encephalopathy, early infantile, 1 [RCV000011957]	pathogenic				Human		name
8555246	CV26242	deletion	ARX, 24-BP DEL, NT441	Mental retardation, with or without seizures, ARX-related, X-linked [RCV000011954]\|X-linked mental retardation, with or without seizures, ARX-related [RCV000011954]	uncertain significance				Human		name , trait
405271188	CV3209343	single nucleotide variant	NM_139058.3(ARX):c.*5T>G	ARX-related disorder [RCV003949684]	likely benign	X	25004665	25004665	Human		name , trait , alternate_id
12835221	CV380023	single nucleotide variant	NM_139058.3(ARX):c.*2G>C	not specified [RCV000421315]	likely benign	X	25004668	25004668	Human		name
12847457	CV378127	single nucleotide variant	NM_139058.3(ARX):c.*20C>T	not specified [RCV000443519]	likely benign	X	25004650	25004650	Human		name
12842404	CV379218	single nucleotide variant	NM_139058.3(ARX):c.-16G>T	not specified [RCV000434338]	likely benign	X	25015753	25015753	Human		name
13483783	CV442409	single nucleotide variant	NM_139058.3(ARX):c.-83C>A	not provided [RCV004714039]\|not specified [RCV000518269]	benign	X	25015820	25015820	Human		name
13538954	CV508154	single nucleotide variant	NM_139058.3(ARX):c.-37C>A	not specified [RCV000612603]	likely benign	X	25015774	25015774	Human		name
156132270	CV1998565	single nucleotide variant	NM_139058.3(ARX):c.196+6G>A	Developmental and epileptic encephalopathy, 1 [RCV002663264]	uncertain significance	X	25015536	25015536	Human	1	name , alternate_id
10406880	CV209029	single nucleotide variant	NM_139058.3(ARX):c.196+6G>T	not specified [RCV000194540]	likely benign	X	25015536	25015536	Human		name
156163487	CV2096991	single nucleotide variant	NM_139058.3(ARX):c.197-5C>T	Developmental and epileptic encephalopathy, 1 [RCV002872748]	likely benign	X	25013803	25013803	Human	1	name , alternate_id
126759124	CV1035460	single nucleotide variant	NM_139058.3(ARX):c.1449-3C>A	Developmental and epileptic encephalopathy, 1 [RCV001340038]	uncertain significance	X	25004913	25004913	Human	1	name , alternate_id
151712636	CV1400580	single nucleotide variant	NM_139058.3(ARX):c.1073+4T>C	Developmental and epileptic encephalopathy, 1 [RCV002007902]	uncertain significance	X	25012918	25012918	Human	1	name , alternate_id
8690174	CV140124	single nucleotide variant	NM_139058.3(ARX):c.1074-3T>C	Developmental and epileptic encephalopathy, 1 [RCV000650187]\|Inborn genetic diseases [RCV002312544]\|not provided [RCV001727581]\|not specified [RCV000145037]	benign\|likely benign	X	25010308	25010308	Human	2	name , alternate_id
151803097	CV1428207	single nucleotide variant	NM_139058.3(ARX):c.1073+6C>T	Developmental and epileptic encephalopathy, 1 [RCV001926944]	uncertain significance	X	25012916	25012916	Human	1	name , alternate_id
151831101	CV1494393	single nucleotide variant	NM_139058.3(ARX):c.1120-2A>G	Developmental and epileptic encephalopathy, 1 [RCV001984673]	pathogenic	X	25007441	25007441	Human	1	name , alternate_id
152146923	CV1545846	single nucleotide variant	NM_139058.3(ARX):c.196+14C>G	Developmental and epileptic encephalopathy, 1 [RCV002157575]	likely benign	X	25015528	25015528	Human	1	name , alternate_id
152149721	CV1616890	deletion	NM_139058.3(ARX):c.1120-5del	Developmental and epileptic encephalopathy, 1 [RCV002201781]	likely benign	X	25007444	25007444	Human	1	name , alternate_id
156282505	CV2133903	single nucleotide variant	NM_139058.3(ARX):c.1120-4G>A	Developmental and epileptic encephalopathy, 1 [RCV003009650]	likely benign	X	25007443	25007443	Human	1	name , alternate_id
405022611	CV3084893	single nucleotide variant	NM_139058.3(ARX):c.1073+7G>A	Developmental and epileptic encephalopathy, 1 [RCV003795759]	likely benign	X	25012915	25012915	Human	1	name , alternate_id
405024345	CV3085044	single nucleotide variant	NM_139058.3(ARX):c.196+15G>A	Developmental and epileptic encephalopathy, 1 [RCV003795910]	likely benign	X	25015527	25015527	Human	1	name , alternate_id
402508572	CV3090743	single nucleotide variant	NM_139058.3(ARX):c.1073+5G>A	Developmental and epileptic encephalopathy, 1 [RCV003789360]	uncertain significance	X	25012917	25012917	Human	1	name , alternate_id
404992469	CV3091409	single nucleotide variant	NM_139058.3(ARX):c.1449-1G>C	Developmental and epileptic encephalopathy, 1 [RCV003792884]	uncertain significance	X	25004911	25004911	Human	1	name , alternate_id
402522312	CV3092086	single nucleotide variant	NM_139058.3(ARX):c.1073+9G>A	Developmental and epileptic encephalopathy, 1 [RCV003790533]	likely benign	X	25012913	25012913	Human	1	name , alternate_id
404983505	CV3096348	single nucleotide variant	NM_139058.3(ARX):c.1449-4G>A	Developmental and epileptic encephalopathy, 1 [RCV003791897]	likely benign	X	25004914	25004914	Human	1	name , alternate_id
405003464	CV3102172	single nucleotide variant	NM_139058.3(ARX):c.1074-5T>C	Developmental and epileptic encephalopathy, 1 [RCV003804218]	likely benign	X	25010310	25010310	Human	1	name , alternate_id
405033452	CV3105792	single nucleotide variant	NM_139058.3(ARX):c.1074-7C>A	Developmental and epileptic encephalopathy, 1 [RCV003796641]	likely benign	X	25010312	25010312	Human	1	name , alternate_id
405125888	CV3111886	single nucleotide variant	NM_139058.3(ARX):c.1448+8G>A	Developmental and epileptic encephalopathy, 1 [RCV003815359]	likely benign	X	25007103	25007103	Human	1	name , alternate_id
405126917	CV3111998	single nucleotide variant	NM_139058.3(ARX):c.1073+8C>A	Developmental and epileptic encephalopathy, 1 [RCV003815471]	likely benign	X	25012914	25012914	Human	1	name , alternate_id
405104993	CV3113091	single nucleotide variant	NM_139058.3(ARX):c.197-15C>T	Developmental and epileptic encephalopathy, 1 [RCV003812382]	likely benign	X	25013813	25013813	Human	1	name , alternate_id
12834547	CV378138	single nucleotide variant	NM_139058.3(ARX):c.1119+6C>T	Developmental and epileptic encephalopathy, 1 [RCV001088866]\|not provided [RCV000734488]\|not specified [RCV000420138]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25010254	25010254	Human	1	name , alternate_id
597882534	CV3865902	single nucleotide variant	NM_139058.3(ARX):c.196+14C>T	Developmental and epileptic encephalopathy, 1 [RCV005217567]	likely benign	X	25015528	25015528	Human	1	name , alternate_id
15157145	CV690269	single nucleotide variant	NM_139058.3(ARX):c.1448+9C>A	Developmental and epileptic encephalopathy, 1 [RCV000868379]	likely benign	X	25007102	25007102	Human	1	name , alternate_id
15098536	CV776969	single nucleotide variant	NM_139058.3(ARX):c.1073+9G>C	Developmental and epileptic encephalopathy, 1 [RCV001471103]	likely benign	X	25012913	25012913	Human	1	name , alternate_id
127270798	CV1086524	single nucleotide variant	NM_139058.3(ARX):c.1448+10A>G	Developmental and epileptic encephalopathy, 1 [RCV001405141]	likely benign	X	25007101	25007101	Human	1	name , alternate_id
152147890	CV1528715	single nucleotide variant	NM_139058.3(ARX):c.1448+14T>C	Developmental and epileptic encephalopathy, 1 [RCV002101765]	likely benign	X	25007097	25007097	Human	1	name , alternate_id
152129286	CV1550658	single nucleotide variant	NM_139058.3(ARX):c.1119+20G>A	Developmental and epileptic encephalopathy, 1 [RCV002155307]	likely benign	X	25010240	25010240	Human	1	name , alternate_id
152112448	CV1573322	single nucleotide variant	NM_139058.3(ARX):c.1073+19C>T	Developmental and epileptic encephalopathy, 1 [RCV002215679]	likely benign	X	25012903	25012903	Human	1	name , alternate_id
152171878	CV1597864	single nucleotide variant	NM_139058.3(ARX):c.1448+15C>T	Developmental and epileptic encephalopathy, 1 [RCV002162265]	likely benign	X	25007096	25007096	Human	1	name , alternate_id
156010756	CV2042976	single nucleotide variant	NM_139058.3(ARX):c.1448+16G>A	Developmental and epileptic encephalopathy, 1 [RCV002756672]	likely benign	X	25007095	25007095	Human	1	name , alternate_id
156290567	CV2068839	single nucleotide variant	NM_139058.3(ARX):c.1120-12T>G	Developmental and epileptic encephalopathy, 1 [RCV002856734]	likely benign	X	25007451	25007451	Human	1	name , alternate_id
156095421	CV2106437	single nucleotide variant	NM_139058.3(ARX):c.1119+16G>A	Developmental and epileptic encephalopathy, 1 [RCV002952527]	likely benign	X	25010244	25010244	Human	1	name , alternate_id
156028000	CV2185741	single nucleotide variant	NM_139058.3(ARX):c.1449-13G>A	Developmental and epileptic encephalopathy, 1 [RCV003036057]	likely benign	X	25004923	25004923	Human	1	name , alternate_id
402522704	CV3086605	single nucleotide variant	NM_139058.3(ARX):c.1073+13G>A	Developmental and epileptic encephalopathy, 1 [RCV003781222]	likely benign	X	25012909	25012909	Human	1	name , alternate_id
402511009	CV3087133	single nucleotide variant	NM_139058.3(ARX):c.1073+20G>A	Developmental and epileptic encephalopathy, 1 [RCV003789644]	benign	X	25012902	25012902	Human	1	name , alternate_id
405018453	CV3087805	single nucleotide variant	NM_139058.3(ARX):c.1449-10C>T	Developmental and epileptic encephalopathy, 1 [RCV003795365]	likely benign	X	25004920	25004920	Human	1	name , alternate_id
402508256	CV3090711	single nucleotide variant	NM_139058.3(ARX):c.1448+20G>A	Developmental and epileptic encephalopathy, 1 [RCV003789327]	likely benign	X	25007091	25007091	Human	1	name , alternate_id
402499844	CV3092993	single nucleotide variant	NM_139058.3(ARX):c.1074-20T>G	Developmental and epileptic encephalopathy, 1 [RCV003788457]	likely benign	X	25010325	25010325	Human	1	name , alternate_id
404985457	CV3096758	single nucleotide variant	NM_139058.3(ARX):c.1449-20G>A	Developmental and epileptic encephalopathy, 1 [RCV003792147]	likely benign	X	25004930	25004930	Human	1	name , alternate_id
405050992	CV3097837	single nucleotide variant	NM_139058.3(ARX):c.1449-11T>C	Developmental and epileptic encephalopathy, 1 [RCV003808250]	likely benign	X	25004921	25004921	Human	1	name , alternate_id
405032721	CV3098676	deletion	NM_139058.3(ARX):c.1448+19del	Developmental and epileptic encephalopathy, 1 [RCV003806801]	likely benign	X	25007092	25007092	Human	1	name , alternate_id
404983040	CV3100173	single nucleotide variant	NM_139058.3(ARX):c.1073+18T>C	Developmental and epileptic encephalopathy, 1 [RCV003791840]	likely benign	X	25012904	25012904	Human	1	name , alternate_id
405003620	CV3102211	single nucleotide variant	NM_139058.3(ARX):c.1119+14C>T	Developmental and epileptic encephalopathy, 1 [RCV003804257]	likely benign	X	25010246	25010246	Human	1	name , alternate_id
405169326	CV3104196	single nucleotide variant	NM_139058.3(ARX):c.1073+14G>T	Developmental and epileptic encephalopathy, 1 [RCV003802873]	likely benign	X	25012908	25012908	Human	1	name , alternate_id
405066937	CV3110955	single nucleotide variant	NM_139058.3(ARX):c.1448+11G>C	Developmental and epileptic encephalopathy, 1 [RCV003809459]	likely benign	X	25007100	25007100	Human	1	name , alternate_id
597891185	CV3871700	single nucleotide variant	NM_139058.3(ARX):c.1448+14T>A	Developmental and epileptic encephalopathy, 1 [RCV005218869]	likely benign	X	25007097	25007097	Human	1	name , alternate_id
597874371	CV3874893	single nucleotide variant	NM_139058.3(ARX):c.1074-18T>C	Developmental and epileptic encephalopathy, 1 [RCV005216369]	likely benign	X	25010323	25010323	Human	1	name , alternate_id
150424274	CV1185774	single nucleotide variant	NM_139058.3(ARX):c.1449-211T>C	not provided [RCV001556444]	likely benign	X	25005121	25005121	Human		name
150418319	CV1199465	deletion	NM_139058.3(ARX):c.1448+171del	not provided [RCV001576691]	likely benign	X	25006940	25006940	Human		name
150508825	CV1214143	single nucleotide variant	NM_139058.3(ARX):c.1073+279G>C	not provided [RCV001596664]	likely benign	X	25012643	25012643	Human		name
150473312	CV1234257	single nucleotide variant	NM_139058.3(ARX):c.1073+225C>T	not provided [RCV001651576]	benign	X	25012697	25012697	Human		name
150480544	CV1239601	duplication	NM_139058.3(ARX):c.1448+161dup	not provided [RCV001652764]	benign	X	25006939	25006940	Human		name
150473496	CV1252416	single nucleotide variant	NM_139058.3(ARX):c.1073+191C>T	not provided [RCV001671618]	benign	X	25012731	25012731	Human		name
14732099	CV669915	single nucleotide variant	NM_139058.3(ARX):c.1120-157C>G	not provided [RCV000836429]	benign	X	25007596	25007596	Human		name
152027075	CV1593842	microsatellite	NM_139058.3(ARX):c.1120-17CT[3]	Developmental and epileptic encephalopathy, 1 [RCV002104771]	likely benign	X	25007449	25007450	Human		name , alternate_id
9692688	CV177492	duplication	NM_139058.2(ARX):c.333_335dupGCC	not provided [RCV000152797]	uncertain significance				Human		name
152982641	CV1677565	deletion	NM_139058.3(ARX):c.1449-8_1453del	Corpus callosum agenesis-abnormal genitalia syndrome [RCV002249275]	pathogenic	X	25004906	25004918	Human	1	name
14981531	CV613545	duplication	NM_139058.3(ARX):c.1446_1448+1dup	Intellectual disability [RCV000850213]	pathogenic	X	25007109	25007110	Human	2	name
10408032	CV209011	duplication	NM_139058.3(ARX):c.1449-82_1469dup	X-linked lissencephaly with abnormal genitalia [RCV000194440]	pathogenic	X	25004889	25004890	Human	1	name
10408016	CV209312	duplication	NM_139058.3(ARX):c.1120-82_1469dup	X-linked lissencephaly with abnormal genitalia [RCV000193893]	pathogenic	X	25004889	25004890	Human	1	name
405108100	CV3112243	single nucleotide variant	NM_139058.3(ARX):c.27C>G (p.Gly9=)	Developmental and epileptic encephalopathy, 1 [RCV003813086]	likely benign	X	25015711	25015711	Human	1	name , alternate_id
127297396	CV1129613	deletion	NM_139058.3(ARX):c.1448+7_1448+9del	Developmental and epileptic encephalopathy, 1 [RCV001460239]	likely benign	X	25007102	25007104	Human	1	name , alternate_id
127290439	CV1150658	single nucleotide variant	NM_139058.3(ARX):c.42C>G (p.Pro14=)	Developmental and epileptic encephalopathy, 1 [RCV001495974]	likely benign	X	25015696	25015696	Human	1	name , alternate_id
127292933	CV1159560	single nucleotide variant	NM_139058.3(ARX):c.99G>A (p.Leu33=)	Developmental and epileptic encephalopathy, 1 [RCV001511062]	benign	X	25015639	25015639	Human	1	name , alternate_id
152982642	CV1677566	single nucleotide variant	NM_139058.3(ARX):c.2T>G (p.Met1Arg)	Corpus callosum agenesis-abnormal genitalia syndrome [RCV002249276]	pathogenic	X	25015736	25015736	Human	1	name
156064303	CV2018287	single nucleotide variant	NM_139058.3(ARX):c.33C>T (p.Ser11=)	Developmental and epileptic encephalopathy, 1 [RCV002705483]	likely benign	X	25015705	25015705	Human	1	name , alternate_id
8591636	CV26228	deletion	NM_139058.3(ARX):c.1449-816_*460del	Developmental and epileptic encephalopathy, 1 [RCV000011940]	pathogenic	X	25004210	25005726	Human	1	name
401722857	CV2737579	single nucleotide variant	NM_139058.3(ARX):c.1A>T (p.Met1Leu)	Developmental and epileptic encephalopathy, 1 [RCV003314520]	likely pathogenic	X	25015737	25015737	Human	1	name
405111092	CV3110748	single nucleotide variant	NM_139058.3(ARX):c.42C>T (p.Pro14=)	Developmental and epileptic encephalopathy, 1 [RCV003813651]	likely benign	X	25015696	25015696	Human	1	name , alternate_id
596946128	CV3550412	single nucleotide variant	NM_139058.3(ARX):c.2T>C (p.Met1Thr)	Developmental and epileptic encephalopathy, 1 [RCV004818953]	likely pathogenic	X	25015736	25015736	Human	1	name
38462975	CV959237	single nucleotide variant	NM_139058.3(ARX):c.8A>G (p.Asn3Ser)	Developmental and epileptic encephalopathy, 1 [RCV001246962]	likely benign\|uncertain significance	X	25015730	25015730	Human	1	name , alternate_id
127334881	CV1150657	single nucleotide variant	NM_139058.3(ARX):c.222G>A (p.Pro74=)	Developmental and epileptic encephalopathy, 1 [RCV001491159]	likely benign	X	25013773	25013773	Human	1	name , alternate_id
151730535	CV1517804	duplication	NM_139058.3(ARX):c.26dup (p.Cys10fs)	Partington syndrome [RCV002052419]	pathogenic	X	25015711	25015712	Human	1	name
152112707	CV1520229	single nucleotide variant	NM_139058.3(ARX):c.291T>C (p.Leu97=)	Developmental and epileptic encephalopathy, 1 [RCV002153265]\|not provided [RCV003138093]	likely benign\|uncertain significance	X	25013704	25013704	Human	1	name , alternate_id
152064775	CV1539629	single nucleotide variant	NM_139058.3(ARX):c.237G>A (p.Leu79=)	Developmental and epileptic encephalopathy, 1 [RCV002147259]\|Inborn genetic diseases [RCV002454482]	likely benign	X	25013758	25013758	Human	2	name , alternate_id
152033911	CV1634641	single nucleotide variant	NM_139058.3(ARX):c.124C>A (p.Arg42=)	Developmental and epileptic encephalopathy, 1 [RCV002086882]	likely benign	X	25015614	25015614	Human	1	name , alternate_id
156271766	CV1899470	single nucleotide variant	NM_139058.3(ARX):c.279G>T (p.Gly93=)	Developmental and epileptic encephalopathy, 1 [RCV003086807]	likely benign	X	25013716	25013716	Human	1	name , alternate_id
156304298	CV1933692	single nucleotide variant	NM_139058.3(ARX):c.19G>A (p.Glu7Lys)	Developmental and epileptic encephalopathy, 1 [RCV002629409]	uncertain significance	X	25015719	25015719	Human	1	name , alternate_id
156101043	CV2117186	single nucleotide variant	NM_139058.3(ARX):c.180G>T (p.Pro60=)	Developmental and epileptic encephalopathy, 1 [RCV002952742]	likely benign	X	25015558	25015558	Human	1	name , alternate_id
156374932	CV2124005	single nucleotide variant	NM_139058.3(ARX):c.14A>T (p.Tyr5Phe)	Developmental and epileptic encephalopathy, 1 [RCV002942628]\|Inborn genetic diseases [RCV003170648]	likely benign	X	25015724	25015724	Human	2	name , alternate_id
156010142	CV2126829	single nucleotide variant	NM_139058.3(ARX):c.138C>A (p.Ala46=)	Developmental and epileptic encephalopathy, 1 [RCV002975604]	likely benign	X	25015600	25015600	Human	1	name , alternate_id
156319513	CV2151424	single nucleotide variant	NM_139058.3(ARX):c.294G>A (p.Gln98=)	Developmental and epileptic encephalopathy, 1 [RCV003011597]	likely benign	X	25013701	25013701	Human	1	name , alternate_id
156363466	CV2170664	single nucleotide variant	NM_139058.3(ARX):c.216C>T (p.Ser72=)	Developmental and epileptic encephalopathy, 1 [RCV003031726]	likely benign	X	25013779	25013779	Human	1	name , alternate_id
156366306	CV2177054	single nucleotide variant	NM_139058.3(ARX):c.195A>G (p.Gln65=)	Developmental and epileptic encephalopathy, 1 [RCV003049370]	uncertain significance	X	25015543	25015543	Human	1	name , alternate_id
156281209	CV2186859	single nucleotide variant	NM_139058.3(ARX):c.273G>C (p.Pro91=)	Developmental and epileptic encephalopathy, 1 [RCV003044784]\|not provided [RCV004809887]	likely benign	X	25013722	25013722	Human	1	name , alternate_id
11347937	CV243787	single nucleotide variant	NM_139058.3(ARX):c.148T>C (p.Leu50=)	Developmental and epileptic encephalopathy, 1 [RCV000233804]\|not provided [RCV001705292]\|not specified [RCV001820772]	benign\|likely benign	X	25015590	25015590	Human	1	name , alternate_id
404986776	CV3083678	single nucleotide variant	NM_139058.3(ARX):c.252G>A (p.Lys84=)	Developmental and epileptic encephalopathy, 1 [RCV003782031]	likely benign	X	25013743	25013743	Human	1	name , alternate_id
404992195	CV3088940	single nucleotide variant	NM_139058.3(ARX):c.141G>A (p.Ala47=)	Developmental and epileptic encephalopathy, 1 [RCV003782584]	likely benign	X	25015597	25015597	Human	1	name , alternate_id
402487659	CV3090539	single nucleotide variant	NM_139058.3(ARX):c.222G>T (p.Pro74=)	Developmental and epileptic encephalopathy, 1 [RCV003787201]	likely benign	X	25013773	25013773	Human	1	name , alternate_id
405052266	CV3097934	single nucleotide variant	NM_139058.3(ARX):c.132G>C (p.Leu44=)	Developmental and epileptic encephalopathy, 1 [RCV003808347]	likely benign	X	25015606	25015606	Human	1	name , alternate_id
405071558	CV3099874	single nucleotide variant	NM_139058.3(ARX):c.174C>A (p.Ala58=)	Developmental and epileptic encephalopathy, 1 [RCV003799589]	likely benign	X	25015564	25015564	Human	1	name , alternate_id
405037711	CV3106320	single nucleotide variant	NM_139058.3(ARX):c.240C>T (p.His80=)	Developmental and epileptic encephalopathy, 1 [RCV003797011]	likely benign	X	25013755	25013755	Human	1	name , alternate_id
405037010	CV3108706	single nucleotide variant	NM_139058.3(ARX):c.144G>A (p.Gln48=)	Developmental and epileptic encephalopathy, 1 [RCV003807164]	likely benign	X	25015594	25015594	Human	1	name , alternate_id
405111648	CV3110808	single nucleotide variant	NM_139058.3(ARX):c.273G>A (p.Pro91=)	Developmental and epileptic encephalopathy, 1 [RCV003813711]	likely benign	X	25013722	25013722	Human	1	name , alternate_id
405109328	CV3112486	single nucleotide variant	NM_139058.3(ARX):c.276C>T (p.Gly92=)	Developmental and epileptic encephalopathy, 1 [RCV003813329]	likely benign	X	25013719	25013719	Human	1	name , alternate_id
405041146	CV3112849	single nucleotide variant	NM_139058.3(ARX):c.219C>T (p.Ala73=)	Developmental and epileptic encephalopathy, 1 [RCV003807516]	likely benign	X	25013776	25013776	Human	1	name , alternate_id
405267797	CV3189551	single nucleotide variant	NM_139058.3(ARX):c.177C>T (p.Asp59=)	ARX-related disorder [RCV003898945]	likely benign	X	25015561	25015561	Human		name , trait , alternate_id
405854513	CV3393101	single nucleotide variant	NM_139058.3(ARX):c.150G>A (p.Leu50=)	not specified [RCV004527258]	likely benign	X	25015588	25015588	Human		name
408374691	CV3502481	single nucleotide variant	NM_139058.3(ARX):c.24G>C (p.Glu8Asp)	not provided [RCV004726068]	uncertain significance	X	25015714	25015714	Human		name
597899913	CV3876247	single nucleotide variant	NM_139058.3(ARX):c.114G>C (p.Pro38=)	Developmental and epileptic encephalopathy, 1 [RCV005220137]	likely benign	X	25015624	25015624	Human	1	name , alternate_id
12881037	CV404537	single nucleotide variant	NM_139058.3(ARX):c.267C>T (p.Tyr89=)	Developmental and epileptic encephalopathy, 1 [RCV001469240]	likely benign	X	25013728	25013728	Human	1	name , alternate_id
13539167	CV508022	single nucleotide variant	NM_139058.3(ARX):c.165C>G (p.Thr55=)	not specified [RCV000612899]	likely benign	X	25015573	25015573	Human		name
13622745	CV534792	single nucleotide variant	NM_139058.3(ARX):c.264G>A (p.Leu88=)	Developmental and epileptic encephalopathy, 1 [RCV000650189]	likely benign	X	25013731	25013731	Human	1	name , alternate_id
14742557	CV656762	single nucleotide variant	NM_139058.3(ARX):c.126G>A (p.Arg42=)	Developmental and epileptic encephalopathy, 1 [RCV005213413]\|not provided [RCV000841476]	likely benign	X	25015612	25015612	Human	1	name , alternate_id
15133658	CV758444	single nucleotide variant	NM_139058.3(ARX):c.241C>T (p.Leu81=)	Developmental and epileptic encephalopathy, 1 [RCV001483794]	likely benign	X	25013754	25013754	Human	1	name , alternate_id
15125497	CV773971	single nucleotide variant	NM_139058.3(ARX):c.279G>A (p.Gly93=)	Developmental and epileptic encephalopathy, 1 [RCV001437730]	likely benign	X	25013716	25013716	Human	1	name , alternate_id
21404685	CV801224	duplication	NM_139058.3(ARX):c.52dup (p.Ser18fs)	Abnormal synaptic transmission [RCV001003643]	pathogenic	X	25015685	25015686	Human	1	name
126728607	CV1018977	single nucleotide variant	NM_139058.3(ARX):c.80A>C (p.Tyr27Ser)	Developmental and epileptic encephalopathy, 1 [RCV001332909]	uncertain significance	X	25015658	25015658	Human	1	name
8643370	CV102353	single nucleotide variant	NM_139058.3(ARX):c.597G>A (p.Thr199=)	Developmental and epileptic encephalopathy, 1 [RCV003817752]	likely benign\|not provided	X	25013398	25013398	Human	1	name , alternate_id
8643371	CV102354	single nucleotide variant	NM_139058.2(ARX):c.600C>T (p.His200=)	not provided [RCV000082610]	not provided	X	25013395	25013395	Human		name
8643374	CV102357	single nucleotide variant	NM_139058.3(ARX):c.921C>T (p.Gly307=)	Developmental and epileptic encephalopathy, 1 [RCV002025053]	likely benign\|uncertain significance	X	25013074	25013074	Human	1	name , alternate_id
126763549	CV1035463	single nucleotide variant	NM_139058.3(ARX):c.651G>A (p.Ala217=)	Developmental and epileptic encephalopathy, 1 [RCV001341320]	likely benign\|uncertain significance	X	25013344	25013344	Human	1	name , alternate_id
126770428	CV1035464	single nucleotide variant	NM_139058.3(ARX):c.516C>T (p.Ser172=)	Developmental and epileptic encephalopathy, 1 [RCV001344467]	uncertain significance	X	25013479	25013479	Human	1	name , alternate_id
127282837	CV1086527	single nucleotide variant	NM_139058.3(ARX):c.837C>G (p.Ala279=)	Developmental and epileptic encephalopathy, 1 [RCV001411413]	likely benign	X	25013158	25013158	Human	1	name , alternate_id
127261801	CV1086528	single nucleotide variant	NM_139058.3(ARX):c.315G>A (p.Ala105=)	Developmental and epileptic encephalopathy, 1 [RCV001402492]\|not provided [RCV003438767]	likely benign	X	25013680	25013680	Human	1	name , alternate_id
127233773	CV1108247	single nucleotide variant	NM_139058.3(ARX):c.639C>T (p.Ser213=)	Developmental and epileptic encephalopathy, 1 [RCV001421868]	likely benign	X	25013356	25013356	Human	1	name , alternate_id
127273735	CV1108248	single nucleotide variant	NM_139058.3(ARX):c.420C>T (p.Asp140=)	Developmental and epileptic encephalopathy, 1 [RCV001442657]	likely benign	X	25013575	25013575	Human	1	name , alternate_id
127263699	CV1108249	single nucleotide variant	NM_139058.3(ARX):c.345C>G (p.Ala115=)	Developmental and epileptic encephalopathy, 1 [RCV001439360]	likely benign	X	25013650	25013650	Human	1	name , alternate_id
127266153	CV1108250	single nucleotide variant	NM_139058.3(ARX):c.330G>C (p.Ala110=)	Developmental and epileptic encephalopathy, 1 [RCV001440172]	likely benign	X	25013665	25013665	Human	1	name , alternate_id
127260171	CV1108251	single nucleotide variant	NM_139058.3(ARX):c.327G>A (p.Ala109=)	Developmental and epileptic encephalopathy, 1 [RCV001427747]	likely benign	X	25013668	25013668	Human	1	name , alternate_id
127241709	CV1108252	single nucleotide variant	NM_139058.3(ARX):c.312G>A (p.Ala104=)	Developmental and epileptic encephalopathy, 1 [RCV001423606]	likely benign	X	25013683	25013683	Human	1	name , alternate_id
127336494	CV1129615	single nucleotide variant	NM_139058.3(ARX):c.951C>T (p.Ser317=)	Developmental and epileptic encephalopathy, 1 [RCV001474979]	likely benign	X	25013044	25013044	Human	1	name , alternate_id
127309101	CV1129618	single nucleotide variant	NM_139058.3(ARX):c.390G>T (p.Pro130=)	Developmental and epileptic encephalopathy, 1 [RCV001456224]	likely benign	X	25013605	25013605	Human	1	name , alternate_id
127337641	CV1129619	single nucleotide variant	NM_139058.3(ARX):c.342C>G (p.Ala114=)	Developmental and epileptic encephalopathy, 1 [RCV001475776]	likely benign	X	25013653	25013653	Human	1	name , alternate_id
127285851	CV1150656	single nucleotide variant	NM_139058.3(ARX):c.540G>A (p.Ala180=)	Developmental and epileptic encephalopathy, 1 [RCV001493763]	likely benign	X	25013455	25013455	Human	1	name , alternate_id
150428271	CV1189083	single nucleotide variant	NM_139058.3(ARX):c.522G>T (p.Ser174=)	Developmental and epileptic encephalopathy, 1 [RCV003771718]\|not provided [RCV001562041]	likely benign	X	25013473	25013473	Human	1	name , alternate_id
150418008	CV1199466	single nucleotide variant	NM_139058.3(ARX):c.591C>T (p.Gly197=)	Developmental and epileptic encephalopathy, 1 [RCV002072266]\|not provided [RCV001576553]	likely benign	X	25013404	25013404	Human	1	name , alternate_id
150434492	CV1243964	single nucleotide variant	NM_139058.3(ARX):c.564G>C (p.Ala188=)	not provided [RCV001665171]	likely benign	X	25013431	25013431	Human		name
150529491	CV1289038	single nucleotide variant	NM_139058.3(ARX):c.873C>G (p.Pro291=)	Developmental and epileptic encephalopathy, 1 [RCV003771881]\|not provided [RCV001727507]	likely benign	X	25013122	25013122	Human	1	name , alternate_id
151661903	CV1330107	single nucleotide variant	NM_139058.3(ARX):c.90C>G (p.Asp30Glu)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001823518]	uncertain significance	X	25015648	25015648	Human	1	name , trait
151714639	CV1378112	single nucleotide variant	NM_139058.3(ARX):c.603G>A (p.Pro201=)	Developmental and epileptic encephalopathy, 1 [RCV002016617]	likely benign\|uncertain significance	X	25013392	25013392	Human	1	name , alternate_id
8690173	CV140123	single nucleotide variant	NM_139058.3(ARX):c.543C>T (p.Pro181=)	Developmental and epileptic encephalopathy, 1 [RCV002055419]\|not specified [RCV000123690]	benign\|likely benign	X	25013452	25013452	Human	1	name , alternate_id
151797826	CV1422806	single nucleotide variant	NM_139058.3(ARX):c.61C>G (p.Pro21Ala)	Developmental and epileptic encephalopathy, 1 [RCV001916893]\|Inborn genetic diseases [RCV005262612]	uncertain significance	X	25015677	25015677	Human	2	name , alternate_id
151827725	CV1501249	single nucleotide variant	NM_139058.3(ARX):c.86T>C (p.Ile29Thr)	Developmental and epileptic encephalopathy, 1 [RCV001977337]	uncertain significance	X	25015652	25015652	Human	1	name , alternate_id
152041466	CV1568419	single nucleotide variant	NM_139058.3(ARX):c.501G>A (p.Val167=)	Developmental and epileptic encephalopathy, 1 [RCV002107802]	likely benign	X	25013494	25013494	Human	1	name , alternate_id
152066131	CV1601592	single nucleotide variant	NM_139058.3(ARX):c.399G>A (p.Ala133=)	Developmental and epileptic encephalopathy, 1 [RCV002168687]	likely benign	X	25013596	25013596	Human	1	name , alternate_id
152099515	CV1611898	single nucleotide variant	NM_139058.3(ARX):c.840T>C (p.Ala280=)	Developmental and epileptic encephalopathy, 1 [RCV002172911]\|Inborn genetic diseases [RCV002443103]	likely benign	X	25013155	25013155	Human	2	name , alternate_id
152130649	CV1636783	single nucleotide variant	NM_139058.3(ARX):c.510C>T (p.Ser170=)	Developmental and epileptic encephalopathy, 1 [RCV002199271]	likely benign	X	25013485	25013485	Human	1	name , alternate_id
152080602	CV1650135	single nucleotide variant	NM_139058.3(ARX):c.738C>T (p.Asp246=)	Developmental and epileptic encephalopathy, 1 [RCV002092788]	benign	X	25013257	25013257	Human	1	name , alternate_id
152067212	CV1660066	single nucleotide variant	NM_139058.3(ARX):c.552G>C (p.Pro184=)	Developmental and epileptic encephalopathy, 1 [RCV002147590]	likely benign	X	25013443	25013443	Human	1	name , alternate_id
152119183	CV1664700	single nucleotide variant	NM_139058.3(ARX):c.699C>T (p.Asp233=)	Developmental and epileptic encephalopathy, 1 [RCV002117618]	likely benign	X	25013296	25013296	Human	1	name , alternate_id
9684295	CV167598	deletion	NM_139058.3(ARX):c.172del (p.Ala58fs)	not provided [RCV000145049]	pathogenic	X	25015566	25015566	Human		name
9684298	CV167601	single nucleotide variant	NM_139058.3(ARX):c.306G>T (p.Ala102=)	Developmental and epileptic encephalopathy, 1 [RCV001087726]\|Inborn genetic diseases [RCV002444600]\|epileptic encephalopathy, early infanitle, 1 [RCV000145052]\|not provided [RCV000734606]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013689	25013689	Human	3	name , alternate_id
9684302	CV167605	single nucleotide variant	NM_139058.3(ARX):c.34G>T (p.Glu12Ter)	epileptic encephalopathy, early infanitle, 1 [RCV000145056]	pathogenic	X	25015704	25015704	Human		name
9684306	CV167609	single nucleotide variant	NM_139058.3(ARX):c.651G>T (p.Ala217=)	epileptic encephalopathy, early infanitle, 1 [RCV000145060]\|not specified [RCV000599952]	likely benign\|uncertain significance	X	25013344	25013344	Human		name
9684307	CV167610	single nucleotide variant	NM_139058.3(ARX):c.807C>T (p.Ala269=)	Developmental and epileptic encephalopathy, 1 [RCV000868747]\|Developmental and epileptic encephalopathy, 1 [RCV002505121]\|Inborn genetic diseases [RCV002316924]\|not specified [RCV000145061]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	25013188	25013188	Human	2	name , alternate_id
9684309	CV167612	single nucleotide variant	NM_139058.3(ARX):c.88G>T (p.Asp30Tyr)	epileptic encephalopathy, early infanitle, 1 [RCV000145063]	uncertain significance	X	25015650	25015650	Human		name
155642323	CV1710118	single nucleotide variant	NM_139058.3(ARX):c.412C>A (p.Arg138=)	not provided [RCV002293216]	likely benign	X	25013583	25013583	Human		name
155703168	CV1791483	single nucleotide variant	NM_139058.3(ARX):c.441A>T (p.Ala147=)	Inborn genetic diseases [RCV002333872]	likely benign	X	25013554	25013554	Human	1	name
155735496	CV1801674	single nucleotide variant	NM_139058.3(ARX):c.462G>T (p.Ala154=)	ARX-related disorder [RCV003933754]\|Developmental and epileptic encephalopathy, 1 [RCV003775937]\|Inborn genetic diseases [RCV002330401]	likely benign	X	25013533	25013533	Human	3	name , trait , alternate_id
156196125	CV1889648	single nucleotide variant	NM_139058.3(ARX):c.426A>T (p.Ala142=)	Developmental and epileptic encephalopathy, 1 [RCV003084040]	likely benign	X	25013569	25013569	Human	1	name , alternate_id
10047601	CV190658	single nucleotide variant	NM_139058.3(ARX):c.30C>A (p.Cys10Ter)	See cases [RCV002252016]\|not provided [RCV000173566]	pathogenic\|likely pathogenic	X	25015708	25015708	Human		name
155936977	CV1917099	single nucleotide variant	NM_139058.3(ARX):c.528C>T (p.Arg176=)	Developmental and epileptic encephalopathy, 1 [RCV002615375]	likely benign	X	25013467	25013467	Human	1	name , alternate_id
10050865	CV192564	single nucleotide variant	NM_139058.3(ARX):c.336A>G (p.Ala112=)	Developmental and epileptic encephalopathy, 1 [RCV001082850]\|not provided [RCV000175971]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013659	25013659	Human	1	name , alternate_id
10050866	CV192566	single nucleotide variant	NM_139058.3(ARX):c.540G>T (p.Ala180=)	not provided [RCV000175973]	uncertain significance	X	25013455	25013455	Human		name
156376641	CV1930549	single nucleotide variant	NM_139058.3(ARX):c.615C>T (p.Leu205=)	Developmental and epileptic encephalopathy, 1 [RCV002633891]	likely benign	X	25013380	25013380	Human	1	name , alternate_id
156447069	CV1944704	single nucleotide variant	NM_139058.3(ARX):c.822G>A (p.Val274=)	Developmental and epileptic encephalopathy, 1 [RCV003118596]	likely benign	X	25013173	25013173	Human	1	name , alternate_id
156105029	CV1956948	single nucleotide variant	NM_139058.3(ARX):c.300G>C (p.Ala100=)	Developmental and epileptic encephalopathy, 1 [RCV002570988]	likely benign	X	25013695	25013695	Human	1	name , alternate_id
156346488	CV1958224	single nucleotide variant	NM_139058.3(ARX):c.633G>A (p.Pro211=)	Developmental and epileptic encephalopathy, 1 [RCV002580786]	likely benign	X	25013362	25013362	Human	1	name , alternate_id
156152565	CV1961142	single nucleotide variant	NM_139058.3(ARX):c.579C>T (p.Gly193=)	Developmental and epileptic encephalopathy, 1 [RCV002572945]	likely benign	X	25013416	25013416	Human	1	name , alternate_id
155944832	CV2032622	single nucleotide variant	NM_139058.3(ARX):c.813T>C (p.Thr271=)	Developmental and epileptic encephalopathy, 1 [RCV002730341]	likely benign	X	25013182	25013182	Human	1	name , alternate_id
10407055	CV209015	single nucleotide variant	NM_139058.3(ARX):c.747G>A (p.Glu249=)	Developmental and epileptic encephalopathy, 1 [RCV001425507]\|not specified [RCV000195280]	likely benign\|uncertain significance	X	25013248	25013248	Human	1	name , alternate_id
10406777	CV209021	single nucleotide variant	NM_139058.3(ARX):c.441A>G (p.Ala147=)	Developmental and epileptic encephalopathy, 1 [RCV000650185]\|History of neurodevelopmental disorder [RCV000720962]\|not provided [RCV001711493]\|not specified [RCV000194099]	benign\|likely benign\|uncertain significance	X	25013554	25013554	Human	2	name , alternate_id
10408022	CV209026	insertion	NM_139058.2(ARX):c.304_305ins21 (p.?)	X-linked lissencephaly with abnormal genitalia [RCV000194243]	pathogenic\|likely pathogenic\|uncertain significance	X	25013690	25013691	Human	1	name
10406650	CV209027	single nucleotide variant	NM_139058.3(ARX):c.303A>G (p.Ala101=)	Developmental and epileptic encephalopathy, 1 [RCV001432671]\|Inborn genetic diseases [RCV002444775]\|not provided [RCV001721247]\|not specified [RCV000193562]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013692	25013692	Human	2	name , alternate_id
10406429	CV209028	single nucleotide variant	NM_139058.3(ARX):c.300G>A (p.Ala100=)	Developmental and epileptic encephalopathy, 1 [RCV001089016]\|not provided [RCV000725344]\|not specified [RCV000192540]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013695	25013695	Human	1	name , alternate_id
156234360	CV2093972	single nucleotide variant	NM_139058.3(ARX):c.714C>T (p.Asp238=)	Developmental and epileptic encephalopathy, 1 [RCV002894674]	likely benign	X	25013281	25013281	Human	1	name , alternate_id
156220375	CV2107281	single nucleotide variant	NM_139058.3(ARX):c.711G>A (p.Glu237=)	Developmental and epileptic encephalopathy, 1 [RCV002918538]	likely benign	X	25013284	25013284	Human	1	name , alternate_id
156210921	CV2117733	single nucleotide variant	NM_139058.3(ARX):c.312G>T (p.Ala104=)	Developmental and epileptic encephalopathy, 1 [RCV002957739]	likely benign	X	25013683	25013683	Human	1	name , alternate_id
156392687	CV2123594	single nucleotide variant	NM_139058.3(ARX):c.756G>C (p.Leu252=)	Developmental and epileptic encephalopathy, 1 [RCV002944073]	likely benign	X	25013239	25013239	Human	1	name , alternate_id
156122916	CV2147308	single nucleotide variant	NM_139058.3(ARX):c.432C>T (p.Ala144=)	Developmental and epileptic encephalopathy, 1 [RCV003021869]	likely benign	X	25013563	25013563	Human	1	name , alternate_id
155993211	CV2147739	single nucleotide variant	NM_139058.3(ARX):c.765C>T (p.Asp255=)	Developmental and epileptic encephalopathy, 1 [RCV003016929]	likely benign	X	25013230	25013230	Human	1	name , alternate_id
156037220	CV2150285	single nucleotide variant	NM_139058.3(ARX):c.44A>G (p.Glu15Gly)	Developmental and epileptic encephalopathy, 1 [RCV003018919]	uncertain significance	X	25015694	25015694	Human	1	name , alternate_id
155933210	CV2153192	single nucleotide variant	NM_139058.3(ARX):c.993C>T (p.Tyr331=)	Developmental and epileptic encephalopathy, 1 [RCV003013755]	likely benign	X	25013002	25013002	Human	1	name , alternate_id
156316523	CV2161436	single nucleotide variant	NM_139058.3(ARX):c.435C>G (p.Ala145=)	Developmental and epileptic encephalopathy, 1 [RCV003046337]	likely benign	X	25013560	25013560	Human	1	name , alternate_id
156366877	CV2192428	single nucleotide variant	NM_139058.3(ARX):c.729G>A (p.Leu243=)	Developmental and epileptic encephalopathy, 1 [RCV003066008]	likely benign	X	25013266	25013266	Human	1	name , alternate_id
11350906	CV237434	single nucleotide variant	NM_139058.3(ARX):c.91A>C (p.Ser31Arg)	Developmental and epileptic encephalopathy, 1 [RCV000819987]\|Inborn genetic diseases [RCV002516241]\|not provided [RCV000224602]	uncertain significance	X	25015647	25015647	Human	2	name , alternate_id
243063508	CV2411829	single nucleotide variant	NM_139058.3(ARX):c.34G>A (p.Glu12Lys)	not provided [RCV003141552]	uncertain significance	X	25015704	25015704	Human		name
11348436	CV243786	single nucleotide variant	NM_139058.3(ARX):c.453G>C (p.Ala151=)	Developmental and epileptic encephalopathy, 1 [RCV001391684]\|not specified [RCV000614240]	likely benign	X	25013542	25013542	Human	1	name , alternate_id
329847481	CV2524317	single nucleotide variant	NM_139058.3(ARX):c.50A>G (p.Lys17Arg)	not provided [RCV003227209]	uncertain significance	X	25015688	25015688	Human		name
8562247	CV26237	single nucleotide variant	NM_139058.3(ARX):c.98T>C (p.Leu33Pro)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV000011949]	pathogenic	X	25015640	25015640	Human	1	name , trait
329954432	CV2669116	single nucleotide variant	NM_139058.3(ARX):c.96C>G (p.Ile32Met)	See cases [RCV003232949]	uncertain significance	X	25015642	25015642	Human		name
329954626	CV2670567	single nucleotide variant	NM_139058.3(ARX):c.627C>T (p.Gly209=)	not provided [RCV003235834]	uncertain significance	X	25013368	25013368	Human		name
11641231	CV272619	single nucleotide variant	NM_139058.3(ARX):c.447G>C (p.Ala149=)	Developmental and epileptic encephalopathy, 1 [RCV001089020]\|Inborn genetic diseases [RCV002328787]\|not provided [RCV000353204]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013548	25013548	Human	2	name , alternate_id
401727415	CV2736312	single nucleotide variant	NM_139058.3(ARX):c.456C>G (p.Ala152=)	not provided [RCV003312760]	likely benign	X	25013539	25013539	Human		name
401931214	CV2821390	single nucleotide variant	NM_139058.3(ARX):c.462G>A (p.Ala154=)	not provided [RCV003441142]	likely benign	X	25013533	25013533	Human		name
405009181	CV3083223	single nucleotide variant	NM_139058.3(ARX):c.453G>A (p.Ala151=)	Developmental and epileptic encephalopathy, 1 [RCV003784170]	likely benign	X	25013542	25013542	Human	1	name , alternate_id
404990871	CV3084235	single nucleotide variant	NM_139058.3(ARX):c.450C>T (p.Ala150=)	Developmental and epileptic encephalopathy, 1 [RCV003782428]	likely benign	X	25013545	25013545	Human	1	name , alternate_id
404999570	CV3085926	single nucleotide variant	NM_139058.3(ARX):c.354G>A (p.Thr118=)	Developmental and epileptic encephalopathy, 1 [RCV003783296]	likely benign	X	25013641	25013641	Human	1	name , alternate_id
402510843	CV3087120	single nucleotide variant	NM_139058.3(ARX):c.426A>C (p.Ala142=)	Developmental and epileptic encephalopathy, 1 [RCV003789631]	likely benign	X	25013569	25013569	Human	1	name , alternate_id
402516630	CV3087739	single nucleotide variant	NM_139058.3(ARX):c.363A>G (p.Pro121=)	Developmental and epileptic encephalopathy, 1 [RCV003790090]	likely benign	X	25013632	25013632	Human	1	name , alternate_id
405046952	CV3088238	single nucleotide variant	NM_139058.3(ARX):c.825C>A (p.Ala275=)	Developmental and epileptic encephalopathy, 1 [RCV003797750]	likely benign	X	25013170	25013170	Human	1	name , alternate_id
402508458	CV3090730	single nucleotide variant	NM_139058.3(ARX):c.645G>C (p.Pro215=)	Developmental and epileptic encephalopathy, 1 [RCV003789347]	likely benign	X	25013350	25013350	Human	1	name , alternate_id
402491760	CV3091107	single nucleotide variant	NM_139058.3(ARX):c.333G>C (p.Ala111=)	Developmental and epileptic encephalopathy, 1 [RCV003787612]	likely benign	X	25013662	25013662	Human	1	name , alternate_id
402494550	CV3092292	single nucleotide variant	NM_139058.3(ARX):c.414G>T (p.Arg138=)	Developmental and epileptic encephalopathy, 1 [RCV003787911]	likely benign	X	25013581	25013581	Human	1	name , alternate_id
405030876	CV3092616	single nucleotide variant	NM_139058.3(ARX):c.669C>T (p.Thr223=)	Developmental and epileptic encephalopathy, 1 [RCV003786127]	likely benign	X	25013326	25013326	Human	1	name , alternate_id
405033653	CV3092721	single nucleotide variant	NM_139058.3(ARX):c.552G>A (p.Pro184=)	Developmental and epileptic encephalopathy, 1 [RCV003786232]	likely benign	X	25013443	25013443	Human	1	name , alternate_id
405001948	CV3095542	single nucleotide variant	NM_139058.3(ARX):c.669C>G (p.Thr223=)	Developmental and epileptic encephalopathy, 1 [RCV003793845]	likely benign	X	25013326	25013326	Human	1	name , alternate_id
405002516	CV3095594	single nucleotide variant	NM_139058.3(ARX):c.675C>T (p.Asp225=)	Developmental and epileptic encephalopathy, 1 [RCV003793899]	likely benign	X	25013320	25013320	Human	1	name , alternate_id
405005529	CV3096027	single nucleotide variant	NM_139058.3(ARX):c.303A>C (p.Ala101=)	Developmental and epileptic encephalopathy, 1 [RCV003794177]	likely benign	X	25013692	25013692	Human	1	name , alternate_id
405005610	CV3096035	single nucleotide variant	NM_139058.3(ARX):c.717G>A (p.Glu239=)	Developmental and epileptic encephalopathy, 1 [RCV003794185]	likely benign	X	25013278	25013278	Human	1	name , alternate_id
405006460	CV3096089	single nucleotide variant	NM_139058.3(ARX):c.927C>T (p.Asp309=)	Developmental and epileptic encephalopathy, 1 [RCV003794239]	likely benign	X	25013068	25013068	Human	1	name , alternate_id
405046920	CV3097369	single nucleotide variant	NM_139058.3(ARX):c.936C>T (p.Cys312=)	Developmental and epileptic encephalopathy, 1 [RCV003807949]	likely benign	X	25013059	25013059	Human	1	name , alternate_id
405051062	CV3097843	single nucleotide variant	NM_139058.3(ARX):c.432C>G (p.Ala144=)	Developmental and epileptic encephalopathy, 1 [RCV003808256]	likely benign	X	25013563	25013563	Human	1	name , alternate_id
405030913	CV3098389	single nucleotide variant	NM_139058.3(ARX):c.462G>C (p.Ala154=)	Developmental and epileptic encephalopathy, 1 [RCV003806682]	likely benign	X	25013533	25013533	Human	1	name , alternate_id
404980084	CV3099529	single nucleotide variant	NM_139058.3(ARX):c.306G>C (p.Ala102=)	Developmental and epileptic encephalopathy, 1 [RCV003791358]	likely benign	X	25013689	25013689	Human	1	name , alternate_id
404981328	CV3099741	single nucleotide variant	NM_139058.3(ARX):c.32C>G (p.Ser11Cys)	Developmental and epileptic encephalopathy, 1 [RCV003791570]	uncertain significance	X	25015706	25015706	Human	1	name , alternate_id
405070313	CV3099792	single nucleotide variant	NM_139058.3(ARX):c.414G>A (p.Arg138=)	Developmental and epileptic encephalopathy, 1 [RCV003799507]	likely benign	X	25013581	25013581	Human	1	name , alternate_id
405076371	CV3100314	single nucleotide variant	NM_139058.3(ARX):c.774G>C (p.Ala258=)	Developmental and epileptic encephalopathy, 1 [RCV003799867]	likely benign	X	25013221	25013221	Human	1	name , alternate_id
405076578	CV3100328	single nucleotide variant	NM_139058.3(ARX):c.858C>T (p.Gly286=)	Developmental and epileptic encephalopathy, 1 [RCV003799881]	likely benign	X	25013137	25013137	Human	1	name , alternate_id
405077694	CV3100410	single nucleotide variant	NM_139058.3(ARX):c.561C>G (p.Pro187=)	Developmental and epileptic encephalopathy, 1 [RCV003799963]	likely benign	X	25013434	25013434	Human	1	name , alternate_id
405078277	CV3100458	single nucleotide variant	NM_139058.3(ARX):c.618C>T (p.Gly206=)	Developmental and epileptic encephalopathy, 1 [RCV003800011]	likely benign	X	25013377	25013377	Human	1	name , alternate_id
405019329	CV3100835	single nucleotide variant	NM_139058.3(ARX):c.43G>C (p.Glu15Gln)	Developmental and epileptic encephalopathy, 1 [RCV003805583]	uncertain significance	X	25015695	25015695	Human	1	name , alternate_id
405020406	CV3101196	single nucleotide variant	NM_139058.3(ARX):c.948C>T (p.Gly316=)	Developmental and epileptic encephalopathy, 1 [RCV003805775]	likely benign	X	25013047	25013047	Human	1	name , alternate_id
405065478	CV3103338	single nucleotide variant	NM_139058.3(ARX):c.636C>T (p.Gly212=)	Developmental and epileptic encephalopathy, 1 [RCV003799168]	likely benign	X	25013359	25013359	Human	1	name , alternate_id
405173630	CV3104804	single nucleotide variant	NM_139058.3(ARX):c.333G>T (p.Ala111=)	Developmental and epileptic encephalopathy, 1 [RCV003803302]	likely benign	X	25013662	25013662	Human	1	name , alternate_id
405091101	CV3105131	single nucleotide variant	NM_139058.3(ARX):c.780C>T (p.Leu260=)	Developmental and epileptic encephalopathy, 1 [RCV003801014]	likely benign	X	25013215	25013215	Human	1	name , alternate_id
405095213	CV3105604	single nucleotide variant	NM_139058.3(ARX):c.549G>A (p.Val183=)	Developmental and epileptic encephalopathy, 1 [RCV003801321]	likely benign	X	25013446	25013446	Human	1	name , alternate_id
405096420	CV3105715	single nucleotide variant	NM_139058.3(ARX):c.495G>T (p.Pro165=)	Developmental and epileptic encephalopathy, 1 [RCV003801432]	likely benign	X	25013500	25013500	Human	1	name , alternate_id
405009089	CV3105970	single nucleotide variant	NM_139058.3(ARX):c.762C>T (p.Asp254=)	Developmental and epileptic encephalopathy, 1 [RCV003794468]	likely benign	X	25013233	25013233	Human	1	name , alternate_id
405014269	CV3106615	single nucleotide variant	NM_139058.3(ARX):c.816C>T (p.Gly272=)	Developmental and epileptic encephalopathy, 1 [RCV003794952]	likely benign	X	25013179	25013179	Human	1	name , alternate_id
405016161	CV3106994	single nucleotide variant	NM_139058.3(ARX):c.387A>C (p.Pro129=)	Developmental and epileptic encephalopathy, 1 [RCV003795164]	likely benign	X	25013608	25013608	Human	1	name , alternate_id
405083008	CV3107521	single nucleotide variant	NM_139058.3(ARX):c.456C>A (p.Ala152=)	Developmental and epileptic encephalopathy, 1 [RCV003800391]	likely benign	X	25013539	25013539	Human	1	name , alternate_id
405054303	CV3107769	single nucleotide variant	NM_139058.3(ARX):c.681G>A (p.Glu227=)	Developmental and epileptic encephalopathy, 1 [RCV003808514]	likely benign	X	25013314	25013314	Human	1	name , alternate_id
405086654	CV3107962	single nucleotide variant	NM_139058.3(ARX):c.865C>T (p.Leu289=)	Developmental and epileptic encephalopathy, 1 [RCV003800660]	likely benign	X	25013130	25013130	Human	1	name , alternate_id
405062324	CV3108488	single nucleotide variant	NM_139058.3(ARX):c.55A>C (p.Lys19Gln)	Developmental and epileptic encephalopathy, 1 [RCV003809066]	uncertain significance	X	25015683	25015683	Human	1	name , alternate_id
405160144	CV3109769	single nucleotide variant	NM_139058.3(ARX):c.690G>T (p.Leu230=)	Developmental and epileptic encephalopathy, 1 [RCV003802128]	likely benign	X	25013305	25013305	Human	1	name , alternate_id
405128614	CV3110126	single nucleotide variant	NM_139058.3(ARX):c.312G>C (p.Ala104=)	Developmental and epileptic encephalopathy, 1 [RCV003815663]	likely benign	X	25013683	25013683	Human	1	name , alternate_id
405156438	CV3110483	single nucleotide variant	NM_139058.3(ARX):c.790C>A (p.Arg264=)	Developmental and epileptic encephalopathy, 1 [RCV003818004]	likely benign	X	25013205	25013205	Human	1	name , alternate_id
405066562	CV3110930	single nucleotide variant	NM_139058.3(ARX):c.810C>T (p.Ala270=)	Developmental and epileptic encephalopathy, 1 [RCV003809434]	likely benign	X	25013185	25013185	Human	1	name , alternate_id
405154987	CV3111269	single nucleotide variant	NM_139058.3(ARX):c.85A>G (p.Ile29Val)	Developmental and epileptic encephalopathy, 1 [RCV003801725]	uncertain significance	X	25015653	25015653	Human	1	name , alternate_id
405127688	CV3112086	single nucleotide variant	NM_139058.3(ARX):c.498G>A (p.Gln166=)	Developmental and epileptic encephalopathy, 1 [RCV003815560]	likely benign	X	25013497	25013497	Human	1	name , alternate_id
405107945	CV3112208	single nucleotide variant	NM_139058.3(ARX):c.597G>T (p.Thr199=)	Developmental and epileptic encephalopathy, 1 [RCV003813051]	likely benign	X	25013398	25013398	Human	1	name , alternate_id
405109863	CV3112579	single nucleotide variant	NM_139058.3(ARX):c.594C>T (p.Val198=)	Developmental and epileptic encephalopathy, 1 [RCV003813422]	likely benign	X	25013401	25013401	Human	1	name , alternate_id
405106496	CV3113635	single nucleotide variant	NM_139058.3(ARX):c.324G>A (p.Ala108=)	Developmental and epileptic encephalopathy, 1 [RCV003812757]	likely benign	X	25013671	25013671	Human	1	name , alternate_id
405107298	CV3113748	single nucleotide variant	NM_139058.3(ARX):c.492G>A (p.Ala164=)	Developmental and epileptic encephalopathy, 1 [RCV003812871]	likely benign	X	25013503	25013503	Human	1	name , alternate_id
405165836	CV3114163	single nucleotide variant	NM_139058.3(ARX):c.924G>A (p.Glu308=)	Developmental and epileptic encephalopathy, 1 [RCV003802577]	likely benign	X	25013071	25013071	Human	1	name , alternate_id
405013277	CV3114236	single nucleotide variant	NM_139058.3(ARX):c.504C>T (p.Ser168=)	Developmental and epileptic encephalopathy, 1 [RCV003805090]	likely benign	X	25013491	25013491	Human	1	name , alternate_id
405014187	CV3114320	single nucleotide variant	NM_139058.3(ARX):c.831A>G (p.Ala277=)	Developmental and epileptic encephalopathy, 1 [RCV003805174]	likely benign	X	25013164	25013164	Human	1	name , alternate_id
405265011	CV3201454	single nucleotide variant	NM_139058.3(ARX):c.80A>G (p.Tyr27Cys)	ARX-related disorder [RCV003897212]	uncertain significance	X	25015658	25015658	Human		name , trait , alternate_id
405275211	CV3204699	single nucleotide variant	NM_139058.3(ARX):c.585G>C (p.Pro195=)	ARX-related disorder [RCV003952094]	likely benign	X	25013410	25013410	Human		name , trait , alternate_id
405294502	CV3211580	single nucleotide variant	NM_139058.3(ARX):c.594C>G (p.Val198=)	ARX-related disorder [RCV003934403]	likely benign	X	25013401	25013401	Human		name , trait , alternate_id
405270825	CV3212117	single nucleotide variant	NM_139058.3(ARX):c.396C>A (p.Thr132=)	ARX-related disorder [RCV003949487]	likely benign	X	25013599	25013599	Human		name , trait , alternate_id
405285780	CV3221558	single nucleotide variant	NM_139058.3(ARX):c.456C>T (p.Ala152=)	ARX-related disorder [RCV003981283]	likely benign	X	25013539	25013539	Human		name , trait , alternate_id
408380202	CV3511450	single nucleotide variant	NM_139058.3(ARX):c.387A>G (p.Pro129=)	ARX-related disorder [RCV004753985]	likely benign	X	25013608	25013608	Human		name , trait , alternate_id
408391210	CV3521251	single nucleotide variant	NM_139058.3(ARX):c.52A>G (p.Ser18Gly)	not provided [RCV004763073]	uncertain significance	X	25015686	25015686	Human		name
12840075	CV379290	single nucleotide variant	NM_139058.3(ARX):c.663C>T (p.Thr221=)	Developmental and epileptic encephalopathy, 1 [RCV000939446]\|not provided [RCV001712267]	benign\|likely benign	X	25013332	25013332	Human	1	name , alternate_id
12846227	CV379292	single nucleotide variant	NM_139058.3(ARX):c.558G>T (p.Pro186=)	Developmental and epileptic encephalopathy, 1 [RCV000551825]\|not provided [RCV001702460]\|not specified [RCV000441242]	likely benign	X	25013437	25013437	Human	1	name , alternate_id
597850560	CV3873286	single nucleotide variant	NM_139058.3(ARX):c.837C>A (p.Ala279=)	Developmental and epileptic encephalopathy, 1 [RCV005212728]	likely benign	X	25013158	25013158	Human	1	name , alternate_id
597926046	CV3873927	single nucleotide variant	NM_139058.3(ARX):c.816C>A (p.Gly272=)	Developmental and epileptic encephalopathy, 1 [RCV005224198]	likely benign	X	25013179	25013179	Human	1	name , alternate_id
597874855	CV3874914	single nucleotide variant	NM_139058.3(ARX):c.38G>A (p.Arg13Lys)	Developmental and epileptic encephalopathy, 1 [RCV005216390]	uncertain significance	X	25015700	25015700	Human	1	name , alternate_id
597844688	CV3875816	single nucleotide variant	NM_139058.3(ARX):c.88G>A (p.Asp30Asn)	Developmental and epileptic encephalopathy, 1 [RCV005211898]	uncertain significance	X	25015650	25015650	Human	1	name , alternate_id
597839962	CV3877607	single nucleotide variant	NM_139058.3(ARX):c.375C>G (p.Ala125=)	Developmental and epileptic encephalopathy, 1 [RCV005226261]	likely benign	X	25013620	25013620	Human	1	name , alternate_id
597857501	CV3877804	single nucleotide variant	NM_139058.3(ARX):c.531G>A (p.Glu177=)	Developmental and epileptic encephalopathy, 1 [RCV005229113]	likely benign	X	25013464	25013464	Human	1	name , alternate_id
597844608	CV3878800	single nucleotide variant	NM_139058.3(ARX):c.70C>T (p.Leu24Phe)	Developmental and epileptic encephalopathy, 1 [RCV005227130]	uncertain significance	X	25015668	25015668	Human	1	name , alternate_id
597844705	CV3878819	single nucleotide variant	NM_139058.3(ARX):c.768C>T (p.Ala256=)	Developmental and epileptic encephalopathy, 1 [RCV005227149]	likely benign	X	25013227	25013227	Human	1	name , alternate_id
8602081	CV38919	single nucleotide variant	NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)	Developmental and epileptic encephalopathy, 1 [RCV000022856]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001542511]	pathogenic\|likely pathogenic	X	25015657	25015657	Human	2	name , trait
12880725	CV404510	single nucleotide variant	NM_139058.3(ARX):c.921C>A (p.Gly307=)	Developmental and epileptic encephalopathy, 1 [RCV000456544]\|Inborn genetic diseases [RCV002313231]\|not provided [RCV001550745]	likely benign	X	25013074	25013074	Human	2	name , alternate_id
12883705	CV404513	single nucleotide variant	NM_139058.3(ARX):c.855G>A (p.Glu285=)	Developmental and epileptic encephalopathy, 1 [RCV000462096]\|not specified [RCV000504068]	likely benign	X	25013140	25013140	Human	1	name , alternate_id
12892344	CV404520	single nucleotide variant	NM_139058.3(ARX):c.825C>T (p.Ala275=)	Developmental and epileptic encephalopathy, 1 [RCV001424630]\|not provided [RCV005409656]	likely benign\|uncertain significance	X	25013170	25013170	Human	1	name , alternate_id
13497682	CV471843	single nucleotide variant	NM_139058.3(ARX):c.678C>T (p.Asp226=)	Developmental and epileptic encephalopathy, 1 [RCV000525572]	likely benign	X	25013317	25013317	Human	1	name , alternate_id
13464692	CV472118	single nucleotide variant	NM_139058.3(ARX):c.450C>A (p.Ala150=)	Developmental and epileptic encephalopathy, 1 [RCV000543512]	likely benign	X	25013545	25013545	Human	1	name , alternate_id
13519802	CV493432	single nucleotide variant	NM_139058.3(ARX):c.306G>A (p.Ala102=)	Developmental and epileptic encephalopathy, 1 [RCV002062093]\|Inborn genetic diseases [RCV002317343]\|not provided [RCV000598157]	likely benign\|uncertain significance	X	25013689	25013689	Human	2	name , alternate_id
13536753	CV508522	single nucleotide variant	NM_139058.3(ARX):c.708T>C (p.Asp236=)	ARX-related disorder [RCV003980139]\|Developmental and epileptic encephalopathy, 1 [RCV000650181]\|not specified [RCV000609453]	likely benign	X	25013287	25013287	Human	2	name , trait , alternate_id
13622744	CV534806	single nucleotide variant	NM_139058.3(ARX):c.351C>A (p.Ala117=)	Developmental and epileptic encephalopathy, 1 [RCV000650184]	likely benign	X	25013644	25013644	Human	1	name , alternate_id
13622743	CV535127	single nucleotide variant	NM_139058.3(ARX):c.663C>G (p.Thr221=)	Developmental and epileptic encephalopathy, 1 [RCV000650180]\|not provided [RCV000842158]	likely benign	X	25013332	25013332	Human	1	name , alternate_id
13622747	CV535128	single nucleotide variant	NM_139058.3(ARX):c.642C>A (p.Ala214=)	Developmental and epileptic encephalopathy, 1 [RCV000650191]\|Inborn genetic diseases [RCV002360639]\|not provided [RCV003437375]	likely benign	X	25013353	25013353	Human	2	name , alternate_id
13706454	CV537557	single nucleotide variant	NM_139058.3(ARX):c.945G>A (p.Ala315=)	Developmental and epileptic encephalopathy, 1 [RCV003767904]\|not provided [RCV000659147]	likely benign\|uncertain significance	X	25013050	25013050	Human	1	name , alternate_id
13807768	CV572392	single nucleotide variant	NM_139058.3(ARX):c.930C>T (p.Ser310=)	Developmental and epileptic encephalopathy, 1 [RCV000701316]	likely benign\|uncertain significance	X	25013065	25013065	Human	1	name , alternate_id
13820945	CV573776	single nucleotide variant	NM_139058.3(ARX):c.87C>G (p.Ile29Met)	Developmental and epileptic encephalopathy, 1 [RCV000695215]	uncertain significance	X	25015651	25015651	Human	1	name , alternate_id
13829198	CV580902	single nucleotide variant	NM_139058.3(ARX):c.441A>C (p.Ala147=)	Developmental and epileptic encephalopathy, 1 [RCV000867206]\|Inborn genetic diseases [RCV002313482]\|not provided [RCV002512127]	likely benign	X	25013554	25013554	Human	2	name , alternate_id
13836005	CV587271	single nucleotide variant	NM_139058.3(ARX):c.657T>C (p.Gly219=)	Developmental and epileptic encephalopathy, 1 [RCV002067127]\|not provided [RCV000731965]	likely benign\|uncertain significance	X	25013338	25013338	Human	1	name , alternate_id
14695688	CV622928	single nucleotide variant	NM_139058.3(ARX):c.84C>A (p.Cys28Ter)	Developmental and epileptic encephalopathy, 1 [RCV000785913]	likely pathogenic	X	25015654	25015654	Human	1	name
14737144	CV649939	single nucleotide variant	NM_139058.3(ARX):c.771C>T (p.Arg257=)	Developmental and epileptic encephalopathy, 1 [RCV000820325]\|Developmental and epileptic encephalopathy, 1 [RCV001332908]	uncertain significance	X	25013224	25013224	Human	1	name , alternate_id
15153023	CV689459	single nucleotide variant	NM_139058.3(ARX):c.372G>A (p.Glu124=)	Developmental and epileptic encephalopathy, 1 [RCV000867561]	likely benign	X	25013623	25013623	Human	1	name , alternate_id
15138036	CV773968	single nucleotide variant	NM_139058.3(ARX):c.669C>A (p.Thr223=)	Developmental and epileptic encephalopathy, 1 [RCV001402895]	likely benign	X	25013326	25013326	Human	1	name , alternate_id
15135853	CV773969	single nucleotide variant	NM_139058.3(ARX):c.348G>A (p.Thr116=)	Developmental and epileptic encephalopathy, 1 [RCV001412684]	likely benign	X	25013647	25013647	Human	1	name , alternate_id
15115334	CV773970	single nucleotide variant	NM_139058.3(ARX):c.318G>C (p.Ala106=)	Developmental and epileptic encephalopathy, 1 [RCV001457390]	likely benign	X	25013677	25013677	Human	1	name , alternate_id
126762829	CV1014876	single nucleotide variant	NM_139058.3(ARX):c.274G>C (p.Gly92Arg)	Developmental and epileptic encephalopathy, 1 [RCV001319051]	uncertain significance	X	25013721	25013721	Human	1	name , alternate_id
8643360	CV102343	single nucleotide variant	NM_139058.3(ARX):c.1272G>A (p.Pro424=)	Developmental and epileptic encephalopathy, 1 [RCV001366119]\|not provided [RCV000723583]\|not specified [RCV000082599]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25007287	25007287	Human	1	name , alternate_id
8643362	CV102345	single nucleotide variant	NM_139058.3(ARX):c.1347C>T (p.Gly449=)	Developmental and epileptic encephalopathy, 1 [RCV000576415]\|Inborn genetic diseases [RCV002311739]\|not provided [RCV004713263]\|not specified [RCV000082601]	benign	X	25007212	25007212	Human	2	name , alternate_id
8643363	CV102346	single nucleotide variant	NM_139058.3(ARX):c.1515A>C (p.Thr505=)	not provided [RCV000082602]	uncertain significance\|not provided	X	25004844	25004844	Human		name
8643364	CV102347	single nucleotide variant	NM_139058.3(ARX):c.1671G>A (p.Thr557=)	Developmental and epileptic encephalopathy, 1 [RCV000532975]\|Inborn genetic diseases [RCV002313831]\|not provided [RCV000415758]\|not specified [RCV000082603]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25004688	25004688	Human	2	name , alternate_id
126769816	CV1035461	single nucleotide variant	NM_139058.3(ARX):c.1299T>A (p.Ala433=)	Developmental and epileptic encephalopathy, 1 [RCV001344132]	likely benign\|uncertain significance	X	25007260	25007260	Human	1	name , alternate_id
126915889	CV1052391	single nucleotide variant	NM_139058.3(ARX):c.227A>G (p.Glu76Gly)	Developmental and epileptic encephalopathy, 1 [RCV001360248]	uncertain significance	X	25013768	25013768	Human	1	name , alternate_id
127267025	CV1086522	single nucleotide variant	NM_139058.3(ARX):c.1677G>A (p.Lys559=)	Developmental and epileptic encephalopathy, 1 [RCV001403994]	likely benign	X	25004682	25004682	Human	1	name , alternate_id
127272283	CV1086523	single nucleotide variant	NM_139058.3(ARX):c.1497G>C (p.Ala499=)	Developmental and epileptic encephalopathy, 1 [RCV001405674]	likely benign	X	25004862	25004862	Human	1	name , alternate_id
127274251	CV1086525	single nucleotide variant	NM_139058.3(ARX):c.1326G>C (p.Pro442=)	Developmental and epileptic encephalopathy, 1 [RCV001406278]	likely benign	X	25007233	25007233	Human	1	name , alternate_id
127277023	CV1086526	single nucleotide variant	NM_139058.3(ARX):c.1233C>T (p.Ser411=)	Developmental and epileptic encephalopathy, 1 [RCV001407514]\|not provided [RCV001762673]	likely benign	X	25007326	25007326	Human	1	name , alternate_id
127274904	CV1108244	single nucleotide variant	NM_139058.3(ARX):c.1542G>A (p.Ser514=)	Developmental and epileptic encephalopathy, 1 [RCV001432114]	likely benign	X	25004817	25004817	Human	1	name , alternate_id
127247628	CV1108245	single nucleotide variant	NM_139058.3(ARX):c.1497G>A (p.Ala499=)	Developmental and epileptic encephalopathy, 1 [RCV001435660]	likely benign	X	25004862	25004862	Human	1	name , alternate_id
127236493	CV1108246	single nucleotide variant	NM_139058.3(ARX):c.1245C>T (p.Asp415=)	Developmental and epileptic encephalopathy, 1 [RCV001433352]	likely benign	X	25007314	25007314	Human	1	name , alternate_id
127276085	CV1108253	single nucleotide variant	NM_139058.3(ARX):c.137C>A (p.Ala46Asp)	Developmental and epileptic encephalopathy, 1 [RCV001443658]\|Inborn genetic diseases [RCV002560312]	likely benign	X	25015601	25015601	Human	2	name , alternate_id
127327885	CV1129612	single nucleotide variant	NM_139058.3(ARX):c.1503G>A (p.Leu501=)	Developmental and epileptic encephalopathy, 1 [RCV001469310]	likely benign	X	25004856	25004856	Human	1	name , alternate_id
127295117	CV1129614	single nucleotide variant	NM_139058.3(ARX):c.1008C>A (p.Thr336=)	Developmental and epileptic encephalopathy, 1 [RCV001459665]	likely benign	X	25012987	25012987	Human	1	name , alternate_id
127307458	CV1150655	single nucleotide variant	NM_139058.3(ARX):c.1425T>C (p.Ala475=)	Developmental and epileptic encephalopathy, 1 [RCV001480314]\|not specified [RCV001820178]	likely benign\|uncertain significance	X	25007134	25007134	Human	1	name , alternate_id
127311403	CV1159558	single nucleotide variant	NM_139058.3(ARX):c.1524G>A (p.Val508=)	Developmental and epileptic encephalopathy, 1 [RCV001518596]	benign	X	25004835	25004835	Human	1	name , alternate_id
150448152	CV1161976	deletion	NM_139058.3(ARX):c.947del (p.Gly316fs)	Corpus callosum agenesis-abnormal genitalia syndrome [RCV001647333]	pathogenic	X	25013048	25013048	Human	1	name
150470693	CV1209374	single nucleotide variant	NM_139058.3(ARX):c.1275G>T (p.Ala425=)	Developmental and epileptic encephalopathy, 1 [RCV003771800]\|not provided [RCV001588485]	likely benign	X	25007284	25007284	Human	1	name , alternate_id
150456547	CV1235222	single nucleotide variant	NM_139058.3(ARX):c.1296C>T (p.Ala432=)	Developmental and epileptic encephalopathy, 1 [RCV002072995]\|not provided [RCV001648638]	benign\|likely benign	X	25007263	25007263	Human	1	name , alternate_id
150549723	CV1299837	single nucleotide variant	NM_139058.3(ARX):c.150G>C (p.Leu50Phe)	not provided [RCV001765306]	uncertain significance	X	25015588	25015588	Human		name
150552416	CV1301388	single nucleotide variant	NM_139058.3(ARX):c.139G>A (p.Ala47Thr)	not provided [RCV001767798]	uncertain significance	X	25015599	25015599	Human		name
151350791	CV1324835	single nucleotide variant	NM_139058.3(ARX):c.121A>C (p.Met41Leu)	Developmental and epileptic encephalopathy, 1 [RCV001809280]	uncertain significance	X	25015617	25015617	Human	1	name
151721140	CV1350592	single nucleotide variant	NM_139058.3(ARX):c.1371G>T (p.Gly457=)	Developmental and epileptic encephalopathy, 1 [RCV002038859]	likely benign\|uncertain significance	X	25007188	25007188	Human	1	name , alternate_id
151717668	CV1495618	single nucleotide variant	NM_139058.3(ARX):c.186G>C (p.Lys62Asn)	Developmental and epileptic encephalopathy, 1 [RCV002026898]	uncertain significance	X	25015552	25015552	Human	1	name , alternate_id
152027656	CV1520936	single nucleotide variant	NM_139058.3(ARX):c.1155G>A (p.Lys385=)	Developmental and epileptic encephalopathy, 1 [RCV002085202]	likely benign	X	25007404	25007404	Human	1	name , alternate_id
152150018	CV1545498	single nucleotide variant	NM_139058.3(ARX):c.1027C>T (p.Leu343=)	Developmental and epileptic encephalopathy, 1 [RCV002121608]	likely benign	X	25012968	25012968	Human	1	name , alternate_id
152032472	CV1549021	single nucleotide variant	NM_139058.3(ARX):c.1257C>T (p.Phe419=)	Developmental and epileptic encephalopathy, 1 [RCV002086586]	likely benign	X	25007302	25007302	Human	1	name , alternate_id
152082297	CV1551891	single nucleotide variant	NM_139058.3(ARX):c.1326G>A (p.Pro442=)	Developmental and epileptic encephalopathy, 1 [RCV002093012]	likely benign	X	25007233	25007233	Human	1	name , alternate_id
152064690	CV1575941	single nucleotide variant	NM_139058.3(ARX):c.1194G>T (p.Leu398=)	Developmental and epileptic encephalopathy, 1 [RCV002209157]	likely benign	X	25007365	25007365	Human	1	name , alternate_id
152102141	CV1578993	single nucleotide variant	NM_139058.3(ARX):c.1497G>T (p.Ala499=)	ARX-related disorder [RCV004753519]\|Developmental and epileptic encephalopathy, 1 [RCV002079132]\|not provided [RCV002079133]	likely benign	X	25004862	25004862	Human	2	name , trait , alternate_id
152054809	CV1590789	single nucleotide variant	NM_139058.3(ARX):c.125G>C (p.Arg42Pro)	Developmental and epileptic encephalopathy, 1 [RCV002109409]	likely benign	X	25015613	25015613	Human	1	name , alternate_id
152081556	CV1607819	single nucleotide variant	NM_139058.3(ARX):c.179C>G (p.Pro60Arg)	Developmental and epileptic encephalopathy, 1 [RCV002193084]	likely benign	X	25015559	25015559	Human	1	name , alternate_id
152165381	CV1611339	single nucleotide variant	NM_139058.3(ARX):c.1404G>T (p.Ala468=)	Developmental and epileptic encephalopathy, 1 [RCV002141707]	likely benign	X	25007155	25007155	Human	1	name , alternate_id
152128914	CV1637385	single nucleotide variant	NM_139058.3(ARX):c.1542G>C (p.Ser514=)	Developmental and epileptic encephalopathy, 1 [RCV002217794]	likely benign	X	25004817	25004817	Human	1	name , alternate_id
152059823	CV1650330	single nucleotide variant	NM_139058.3(ARX):c.1389C>T (p.Ser463=)	Developmental and epileptic encephalopathy, 1 [RCV002128209]\|not provided [RCV003438968]	likely benign	X	25007170	25007170	Human	1	name , alternate_id
152103558	CV1657141	single nucleotide variant	NM_139058.3(ARX):c.1284C>T (p.Ser428=)	Developmental and epileptic encephalopathy, 1 [RCV002195855]	likely benign	X	25007275	25007275	Human	1	name , alternate_id
9684287	CV167590	single nucleotide variant	NM_139058.3(ARX):c.1281C>T (p.Asp427=)	Developmental and epileptic encephalopathy, 1 [RCV003764881]\|epileptic encephalopathy, early infanitle, 1 [RCV000145041]	likely benign\|uncertain significance	X	25007278	25007278	Human	2	name , alternate_id
9684296	CV167599	single nucleotide variant	NM_139058.3(ARX):c.211A>T (p.Ser71Cys)	ARX-related disorder [RCV003895021]\|Developmental and epileptic encephalopathy, 1 [RCV001339860]\|Inborn genetic diseases [RCV003242987]\|not provided [RCV000766468]\|not specified [RCV000145050]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013784	25013784	Human	3	name , trait , alternate_id
9684297	CV167600	single nucleotide variant	NM_139058.3(ARX):c.216C>A (p.Ser72Arg)	Inborn genetic diseases [RCV002514785]\|not provided [RCV000167562]\|not specified [RCV000145051]	likely benign\|uncertain significance	X	25013779	25013779	Human	1	name
9684304	CV167607	deletion	NM_139058.3(ARX):c.617del (p.Gly206fs)	X-linked lissencephaly with abnormal genitalia [RCV000145058]	pathogenic	X	25013378	25013378	Human	1	name
10041671	CV185722	single nucleotide variant	NM_139058.3(ARX):c.260G>C (p.Arg87Pro)	Developmental and epileptic encephalopathy, 1 [RCV002492677]\|not provided [RCV000167561]	uncertain significance	X	25013735	25013735	Human	1	name , alternate_id
156181649	CV1888519	single nucleotide variant	NM_139058.3(ARX):c.152C>G (p.Pro51Arg)	Developmental and epileptic encephalopathy, 1 [RCV003083578]	uncertain significance	X	25015586	25015586	Human	1	name , alternate_id
156406102	CV1921458	single nucleotide variant	NM_139058.3(ARX):c.1575A>T (p.Ala525=)	Developmental and epileptic encephalopathy, 1 [RCV002606490]	likely benign	X	25004784	25004784	Human	1	name , alternate_id
10052248	CV194533	single nucleotide variant	NM_139058.3(ARX):c.1269C>T (p.His423=)	Developmental and epileptic encephalopathy, 1 [RCV000650183]\|Inborn genetic diseases [RCV002317048]\|not provided [RCV000724610]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25007290	25007290	Human	2	name , alternate_id
10052249	CV194534	single nucleotide variant	NM_139058.3(ARX):c.1404G>C (p.Ala468=)	Inborn genetic diseases [RCV002390436]\|not provided [RCV000178386]	likely benign\|uncertain significance	X	25007155	25007155	Human	1	name
155922994	CV2024046	single nucleotide variant	NM_139058.3(ARX):c.1263G>T (p.Pro421=)	Developmental and epileptic encephalopathy, 1 [RCV002750802]	likely benign	X	25007296	25007296	Human	1	name , alternate_id
155968878	CV2030639	single nucleotide variant	NM_139058.3(ARX):c.1374G>A (p.Ala458=)	Developmental and epileptic encephalopathy, 1 [RCV002731528]	likely benign	X	25007185	25007185	Human	1	name , alternate_id
155920294	CV2032111	single nucleotide variant	NM_139058.3(ARX):c.1611C>G (p.Leu537=)	Developmental and epileptic encephalopathy, 1 [RCV002727352]	likely benign	X	25004748	25004748	Human	1	name , alternate_id
155938227	CV2054722	single nucleotide variant	NM_139058.3(ARX):c.1314C>T (p.Ala438=)	Developmental and epileptic encephalopathy, 1 [RCV002815515]	likely benign	X	25007245	25007245	Human	1	name , alternate_id
156165272	CV2056578	single nucleotide variant	NM_139058.3(ARX):c.1473G>C (p.Leu491=)	Developmental and epileptic encephalopathy, 1 [RCV002801776]	likely benign	X	25004886	25004886	Human	1	name , alternate_id
156348548	CV2061962	single nucleotide variant	NM_139058.3(ARX):c.1330C>T (p.Leu444=)	Developmental and epileptic encephalopathy, 1 [RCV002811609]	likely benign	X	25007229	25007229	Human	1	name , alternate_id
156211036	CV2074238	single nucleotide variant	NM_139058.3(ARX):c.1278C>G (p.Leu426=)	Developmental and epileptic encephalopathy, 1 [RCV002829297]	likely benign	X	25007281	25007281	Human	1	name , alternate_id
155938136	CV2075146	single nucleotide variant	NM_139058.3(ARX):c.1308C>T (p.Ala436=)	Developmental and epileptic encephalopathy, 1 [RCV002861589]	likely benign	X	25007251	25007251	Human	1	name , alternate_id
156080816	CV2083674	single nucleotide variant	NM_139058.3(ARX):c.1428C>T (p.Phe476=)	Developmental and epileptic encephalopathy, 1 [RCV002847378]	likely benign	X	25007131	25007131	Human	1	name , alternate_id
10407983	CV209022	duplication	NM_139058.3(ARX):c.409dup (p.Glu137fs)	X-linked lissencephaly with abnormal genitalia [RCV000192991]	pathogenic	X	25013585	25013586	Human	1	name
155916234	CV2091770	duplication	NM_139058.3(ARX):c.590dup (p.Val198fs)	Developmental and epileptic encephalopathy, 1 [RCV002903103]	pathogenic	X	25013404	25013405	Human	1	name , alternate_id
156012587	CV2103727	single nucleotide variant	NM_139058.3(ARX):c.1143C>T (p.Ala381=)	Developmental and epileptic encephalopathy, 1 [RCV002909190]	likely benign	X	25007416	25007416	Human	1	name , alternate_id
156336190	CV2110029	single nucleotide variant	NM_139058.3(ARX):c.137C>T (p.Ala46Val)	Developmental and epileptic encephalopathy, 1 [RCV002938650]	uncertain significance	X	25015601	25015601	Human	1	name , alternate_id
156368268	CV2113220	single nucleotide variant	NM_139058.3(ARX):c.220C>G (p.Pro74Ala)	Developmental and epileptic encephalopathy, 1 [RCV002942121]	uncertain significance	X	25013775	25013775	Human	1	name , alternate_id
156016171	CV2114435	single nucleotide variant	NM_139058.3(ARX):c.213C>A (p.Ser71Arg)	Developmental and epileptic encephalopathy, 1 [RCV002909376]	uncertain significance	X	25013782	25013782	Human	1	name , alternate_id
156097682	CV2135937	single nucleotide variant	NM_139058.3(ARX):c.268G>C (p.Gly90Arg)	Developmental and epileptic encephalopathy, 1 [RCV002979857]	uncertain significance	X	25013727	25013727	Human	1	name , alternate_id
155975321	CV2149030	single nucleotide variant	NM_139058.3(ARX):c.1587C>G (p.Ala529=)	Developmental and epileptic encephalopathy, 1 [RCV003016127]	likely benign	X	25004772	25004772	Human	1	name , alternate_id
156315852	CV2158718	single nucleotide variant	NM_139058.3(ARX):c.1014C>T (p.Tyr338=)	Developmental and epileptic encephalopathy, 1 [RCV003028854]	likely benign	X	25012981	25012981	Human	1	name , alternate_id
156007626	CV2163235	single nucleotide variant	NM_139058.3(ARX):c.1203G>C (p.Pro401=)	Developmental and epileptic encephalopathy, 1 [RCV003017571]	likely benign	X	25007356	25007356	Human	1	name , alternate_id
156216840	CV2176701	single nucleotide variant	NM_139058.3(ARX):c.1479C>T (p.Ser493=)	Developmental and epileptic encephalopathy, 1 [RCV003025035]	likely benign	X	25004880	25004880	Human	1	name , alternate_id
156333492	CV2186610	single nucleotide variant	NM_139058.3(ARX):c.1404G>A (p.Ala468=)	Developmental and epileptic encephalopathy, 1 [RCV003063831]	likely benign	X	25007155	25007155	Human	1	name , alternate_id
11050622	CV225842	single nucleotide variant	NM_139058.3(ARX):c.166A>G (p.Ser56Gly)	Developmental and epileptic encephalopathy, 1 [RCV003765355]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV000209858]	likely benign\|uncertain significance	X	25015572	25015572	Human	2	name , trait , alternate_id
11091663	CV232150	single nucleotide variant	NM_139058.3(ARX):c.1170C>T (p.Gly390=)	Developmental and epileptic encephalopathy, 1 [RCV000764873]\|Developmental and epileptic encephalopathy, 1 [RCV001366501]\|Inborn genetic diseases [RCV002317744]\|not provided [RCV000217574]	likely benign\|uncertain significance	X	25007389	25007389	Human	2	name , alternate_id
329351400	CV2478039	single nucleotide variant	NM_139058.3(ARX):c.229G>A (p.Ala77Thr)	Developmental and epileptic encephalopathy, 1 [RCV003224705]	uncertain significance	X	25013766	25013766	Human	1	name , alternate_id
8562252	CV26244	single nucleotide variant	NM_139058.3(ARX):c.232G>T (p.Glu78Ter)	X-linked lissencephaly with abnormal genitalia [RCV000011956]	pathogenic	X	25013763	25013763	Human	1	name
329954691	CV2670620	single nucleotide variant	NM_139058.3(ARX):c.164C>A (p.Thr55Asn)	not provided [RCV003235888]	uncertain significance	X	25015574	25015574	Human		name
11633884	CV271260	deletion	NM_139058.3(ARX):c.790del (p.Arg264fs)	X-linked lissencephaly with abnormal genitalia [RCV000376192]\|not provided [RCV000725938]	pathogenic	X	25013205	25013205	Human	1	name
401798996	CV2741571	single nucleotide variant	NM_139058.3(ARX):c.295G>T (p.Gly99Cys)	not provided [RCV003322979]	uncertain significance	X	25013700	25013700	Human		name
401830982	CV2748630	duplication	NM_139058.3(ARX):c.821dup (p.Ala275fs)	X-linked lissencephaly with abnormal genitalia [RCV003330280]	likely pathogenic	X	25013173	25013174	Human	1	name
401931213	CV2821389	single nucleotide variant	NM_139058.3(ARX):c.1629G>A (p.Ala543=)	Developmental and epileptic encephalopathy, 1 [RCV003778452]\|not provided [RCV003441141]	likely benign	X	25004730	25004730	Human	1	name , alternate_id
401931215	CV2821391	single nucleotide variant	NM_139058.3(ARX):c.134G>T (p.Gly45Val)	not provided [RCV003441143]	uncertain significance	X	25015604	25015604	Human		name
404986472	CV3083645	single nucleotide variant	NM_139058.3(ARX):c.1602G>A (p.Ala534=)	Developmental and epileptic encephalopathy, 1 [RCV003781997]	likely benign	X	25004757	25004757	Human	1	name , alternate_id
404989740	CV3084121	single nucleotide variant	NM_139058.3(ARX):c.1590T>A (p.Ser530=)	Developmental and epileptic encephalopathy, 1 [RCV003782313]	likely benign	X	25004769	25004769	Human	1	name , alternate_id
405050786	CV3084626	single nucleotide variant	NM_139058.3(ARX):c.1050G>A (p.Thr350=)	Developmental and epileptic encephalopathy, 1 [RCV003798033]	likely benign	X	25012945	25012945	Human	1	name , alternate_id
404995421	CV3085371	deletion	NM_139058.3(ARX):c.409del (p.Glu137fs)	Developmental and epileptic encephalopathy, 1 [RCV003782902]	pathogenic	X	25013586	25013586	Human	1	name , alternate_id
404995639	CV3085393	single nucleotide variant	NM_139058.3(ARX):c.1350G>C (p.Ser450=)	Developmental and epileptic encephalopathy, 1 [RCV003782924]	likely benign	X	25007209	25007209	Human	1	name , alternate_id
402511965	CV3087094	single nucleotide variant	NM_139058.3(ARX):c.1344G>C (p.Pro448=)	Developmental and epileptic encephalopathy, 1 [RCV003789604]	likely benign	X	25007215	25007215	Human	1	name , alternate_id
405019756	CV3087923	single nucleotide variant	NM_139058.3(ARX):c.1530C>A (p.Gly510=)	Developmental and epileptic encephalopathy, 1 [RCV003795483]	likely benign	X	25004829	25004829	Human	1	name , alternate_id
402511807	CV3089311	single nucleotide variant	NM_139058.3(ARX):c.1095G>T (p.Leu365=)	Developmental and epileptic encephalopathy, 1 [RCV003780343]	likely benign	X	25010284	25010284	Human	1	name , alternate_id
402503896	CV3090124	single nucleotide variant	NM_139058.3(ARX):c.188C>T (p.Ala63Val)	Developmental and epileptic encephalopathy, 1 [RCV003788891]	uncertain significance	X	25015550	25015550	Human	1	name , alternate_id
402504365	CV3090190	single nucleotide variant	NM_139058.3(ARX):c.1641G>A (p.Thr547=)	Developmental and epileptic encephalopathy, 1 [RCV003788958]	likely benign	X	25004718	25004718	Human	1	name , alternate_id
402506449	CV3090306	single nucleotide variant	NM_139058.3(ARX):c.1299T>C (p.Ala433=)	Developmental and epileptic encephalopathy, 1 [RCV003789075]	likely benign	X	25007260	25007260	Human	1	name , alternate_id
402509087	CV3090807	single nucleotide variant	NM_139058.3(ARX):c.1638C>G (p.Leu546=)	Developmental and epileptic encephalopathy, 1 [RCV003789424]	likely benign	X	25004721	25004721	Human	1	name , alternate_id
405018164	CV3091671	single nucleotide variant	NM_139058.3(ARX):c.101G>C (p.Gly34Ala)	Developmental and epileptic encephalopathy, 1 [RCV003795338]\|Inborn genetic diseases [RCV004366582]	uncertain significance	X	25015637	25015637	Human	2	name , alternate_id
405018404	CV3091693	single nucleotide variant	NM_139058.3(ARX):c.1263G>A (p.Pro421=)	Developmental and epileptic encephalopathy, 1 [RCV003795360]	likely benign	X	25007296	25007296	Human	1	name , alternate_id
402518814	CV3091810	single nucleotide variant	NM_139058.3(ARX):c.1500C>G (p.Leu500=)	Developmental and epileptic encephalopathy, 1 [RCV003790256]	likely benign	X	25004859	25004859	Human	1	name , alternate_id
402493935	CV3092223	single nucleotide variant	NM_139058.3(ARX):c.1470C>A (p.Pro490=)	Developmental and epileptic encephalopathy, 1 [RCV003787842]	likely benign	X	25004889	25004889	Human	1	name , alternate_id
405027949	CV3094839	single nucleotide variant	NM_139058.3(ARX):c.1239C>T (p.Tyr413=)	Developmental and epileptic encephalopathy, 1 [RCV003796201]	likely benign	X	25007320	25007320	Human	1	name , alternate_id
405001538	CV3095501	single nucleotide variant	NM_139058.3(ARX):c.1311C>T (p.Ala437=)	Developmental and epileptic encephalopathy, 1 [RCV003793804]	likely benign	X	25007248	25007248	Human	1	name , alternate_id
405006471	CV3096090	single nucleotide variant	NM_139058.3(ARX):c.1602G>C (p.Ala534=)	Developmental and epileptic encephalopathy, 1 [RCV003794240]	likely benign	X	25004757	25004757	Human	1	name , alternate_id
404987237	CV3096960	single nucleotide variant	NM_139058.3(ARX):c.225C>G (p.Phe75Leu)	Developmental and epileptic encephalopathy, 1 [RCV003792349]	uncertain significance	X	25013770	25013770	Human	1	name , alternate_id
405049009	CV3097523	single nucleotide variant	NM_139058.3(ARX):c.1443C>T (p.Phe481=)	Developmental and epileptic encephalopathy, 1 [RCV003808103]	likely benign	X	25007116	25007116	Human	1	name , alternate_id
405031404	CV3098431	single nucleotide variant	NM_139058.3(ARX):c.1230C>G (p.Leu410=)	Developmental and epileptic encephalopathy, 1 [RCV003806724]	likely benign	X	25007329	25007329	Human	1	name , alternate_id
404981857	CV3100006	single nucleotide variant	NM_139058.3(ARX):c.1494C>G (p.Ala498=)	Developmental and epileptic encephalopathy, 1 [RCV003791673]	likely benign	X	25004865	25004865	Human	1	name , alternate_id
404982904	CV3100157	single nucleotide variant	NM_139058.3(ARX):c.1659G>A (p.Pro553=)	Developmental and epileptic encephalopathy, 1 [RCV003791824]	likely benign	X	25004700	25004700	Human	1	name , alternate_id
405079461	CV3100521	single nucleotide variant	NM_139058.3(ARX):c.1305C>T (p.Ala435=)	Developmental and epileptic encephalopathy, 1 [RCV003800074]	likely benign	X	25007254	25007254	Human	1	name , alternate_id
405176163	CV3101134	single nucleotide variant	NM_139058.3(ARX):c.1116C>A (p.Val372=)	Developmental and epileptic encephalopathy, 1 [RCV003803521]	likely benign	X	25010263	25010263	Human	1	name , alternate_id
405025589	CV3101834	single nucleotide variant	NM_139058.3(ARX):c.1026A>G (p.Glu342=)	Developmental and epileptic encephalopathy, 1 [RCV003806240]	likely benign	X	25012969	25012969	Human	1	name , alternate_id
405003706	CV3102219	single nucleotide variant	NM_139058.3(ARX):c.107G>A (p.Arg36Lys)	Developmental and epileptic encephalopathy, 1 [RCV003804265]	uncertain significance	X	25015631	25015631	Human	1	name , alternate_id
405062519	CV3102947	single nucleotide variant	NM_139058.3(ARX):c.1248C>T (p.Ala416=)	Developmental and epileptic encephalopathy, 1 [RCV003798938]	likely benign	X	25007311	25007311	Human	1	name , alternate_id
405040099	CV3103337	single nucleotide variant	NM_139058.3(ARX):c.1173G>A (p.Ala391=)	Developmental and epileptic encephalopathy, 1 [RCV003797215]	likely benign	X	25007386	25007386	Human	1	name , alternate_id
405042685	CV3103718	single nucleotide variant	NM_139058.3(ARX):c.169C>T (p.Arg57Cys)	Developmental and epileptic encephalopathy, 1 [RCV003797436]	likely benign\|uncertain significance	X	25015569	25015569	Human	1	name , alternate_id
405174079	CV3104847	single nucleotide variant	NM_139058.3(ARX):c.1017G>A (p.Gln339=)	Developmental and epileptic encephalopathy, 1 [RCV003803345]	likely benign	X	25012978	25012978	Human	1	name , alternate_id
405089610	CV3104997	single nucleotide variant	NM_139058.3(ARX):c.193C>T (p.Gln65Ter)	Developmental and epileptic encephalopathy, 1 [RCV003800880]	pathogenic	X	25015545	25015545	Human	1	name , alternate_id
405089970	CV3105048	single nucleotide variant	NM_139058.3(ARX):c.1362G>A (p.Pro454=)	Developmental and epileptic encephalopathy, 1 [RCV003800931]	likely benign	X	25007197	25007197	Human	1	name , alternate_id
405177655	CV3105348	single nucleotide variant	NM_139058.3(ARX):c.1083G>C (p.Leu361=)	Developmental and epileptic encephalopathy, 1 [RCV003803671]	likely benign	X	25010296	25010296	Human	1	name , alternate_id
405034357	CV3106052	single nucleotide variant	NM_139058.3(ARX):c.1302C>T (p.Ala434=)	Developmental and epileptic encephalopathy, 1 [RCV003796742]	likely benign	X	25007257	25007257	Human	1	name , alternate_id
405035269	CV3106106	single nucleotide variant	NM_139058.3(ARX):c.1323C>T (p.Phe441=)	Developmental and epileptic encephalopathy, 1 [RCV003796797]	likely benign	X	25007236	25007236	Human	1	name , alternate_id
405035280	CV3106107	single nucleotide variant	NM_139058.3(ARX):c.1062C>T (p.Asp354=)	Developmental and epileptic encephalopathy, 1 [RCV003796798]	likely benign	X	25012933	25012933	Human	1	name , alternate_id
405037363	CV3106288	single nucleotide variant	NM_139058.3(ARX):c.1083G>A (p.Leu361=)	Developmental and epileptic encephalopathy, 1 [RCV003796979]	likely benign	X	25010296	25010296	Human	1	name , alternate_id
405038052	CV3106352	single nucleotide variant	NM_139058.3(ARX):c.1005C>T (p.Phe335=)	Developmental and epileptic encephalopathy, 1 [RCV003797043]	likely benign	X	25012990	25012990	Human	1	name , alternate_id
405041207	CV3106782	single nucleotide variant	NM_139058.3(ARX):c.1638C>T (p.Leu546=)	Developmental and epileptic encephalopathy, 1 [RCV003797312]	likely benign	X	25004721	25004721	Human	1	name , alternate_id
405016249	CV3106937	single nucleotide variant	NM_139058.3(ARX):c.104G>A (p.Arg35Gln)	Developmental and epileptic encephalopathy, 1 [RCV003795107]	uncertain significance	X	25015634	25015634	Human	1	name , alternate_id
405054973	CV3107844	single nucleotide variant	NM_139058.3(ARX):c.1320C>T (p.Ala440=)	Developmental and epileptic encephalopathy, 1 [RCV003808589]	likely benign	X	25007239	25007239	Human	1	name , alternate_id
405058294	CV3108233	single nucleotide variant	NM_139058.3(ARX):c.1362G>T (p.Pro454=)	Developmental and epileptic encephalopathy, 1 [RCV003808811]	likely benign	X	25007197	25007197	Human	1	name , alternate_id
405157231	CV3109405	single nucleotide variant	NM_139058.3(ARX):c.197G>C (p.Gly66Ala)	Developmental and epileptic encephalopathy, 1 [RCV003801929]	uncertain significance	X	25013798	25013798	Human	1	name , alternate_id
405155851	CV3110406	single nucleotide variant	NM_139058.3(ARX):c.1569G>A (p.Ala523=)	Developmental and epileptic encephalopathy, 1 [RCV003817927]	likely benign	X	25004790	25004790	Human	1	name , alternate_id
405110822	CV3110682	single nucleotide variant	NM_139058.3(ARX):c.1446C>G (p.Gly482=)	Developmental and epileptic encephalopathy, 1 [RCV003813585]	likely benign	X	25007113	25007113	Human	1	name , alternate_id
405066694	CV3110938	single nucleotide variant	NM_139058.3(ARX):c.1338G>T (p.Pro446=)	Developmental and epileptic encephalopathy, 1 [RCV003809442]	likely benign	X	25007221	25007221	Human	1	name , alternate_id
405124612	CV3111773	single nucleotide variant	NM_139058.3(ARX):c.1185C>T (p.Pro395=)	Developmental and epileptic encephalopathy, 1 [RCV003815246]	likely benign	X	25007374	25007374	Human	1	name , alternate_id
405127071	CV3112017	single nucleotide variant	NM_139058.3(ARX):c.239A>G (p.His80Arg)	Developmental and epileptic encephalopathy, 1 [RCV003815490]	uncertain significance	X	25013756	25013756	Human	1	name , alternate_id
405043438	CV3112945	single nucleotide variant	NM_139058.3(ARX):c.1566G>C (p.Thr522=)	Developmental and epileptic encephalopathy, 1 [RCV003807612]	likely benign	X	25004793	25004793	Human	1	name , alternate_id
405043425	CV3112946	single nucleotide variant	NM_139058.3(ARX):c.1095G>C (p.Leu365=)	Developmental and epileptic encephalopathy, 1 [RCV003807613]	likely benign	X	25010284	25010284	Human	1	name , alternate_id
405106229	CV3113387	single nucleotide variant	NM_139058.3(ARX):c.1158G>T (p.Arg386=)	Developmental and epileptic encephalopathy, 1 [RCV003812679]	likely benign	X	25007401	25007401	Human	1	name , alternate_id
405261210	CV3186106	single nucleotide variant	NM_139058.3(ARX):c.1374G>C (p.Ala458=)	not provided [RCV003885182]	likely benign	X	25007185	25007185	Human		name
405261212	CV3186107	single nucleotide variant	NM_139058.3(ARX):c.1371G>C (p.Gly457=)	not provided [RCV003885183]	likely benign	X	25007188	25007188	Human		name
405259217	CV3194627	single nucleotide variant	NM_139058.3(ARX):c.191T>C (p.Val64Ala)	ARX-related disorder [RCV003894021]	uncertain significance	X	25015547	25015547	Human		name , trait , alternate_id
405745728	CV3226299	duplication	NM_139058.3(ARX):c.557dup (p.Pro187fs)	X-linked lissencephaly with abnormal genitalia [RCV003991290]	pathogenic	X	25013437	25013438	Human	1	name
407509529	CV3496478	single nucleotide variant	NM_139058.3(ARX):c.122T>C (p.Met41Thr)	not provided [RCV004698319]	uncertain significance	X	25015616	25015616	Human		name
408385253	CV3526038	deletion	NM_139058.3(ARX):c.457del (p.Ala153fs)	Developmental and epileptic encephalopathy, 1 [RCV004766949]	pathogenic	X	25013538	25013538	Human	1	name
408386366	CV3528890	single nucleotide variant	NM_139058.3(ARX):c.1035G>A (p.Arg345=)	not provided [RCV004772723]	uncertain significance	X	25012960	25012960	Human		name
408389364	CV3529353	single nucleotide variant	NM_139058.3(ARX):c.257G>A (p.Arg86Gln)	not provided [RCV004774175]	uncertain significance	X	25013738	25013738	Human		name
596931207	CV3531540	single nucleotide variant	NM_139058.3(ARX):c.253C>G (p.Leu85Val)	not provided [RCV004781102]	uncertain significance	X	25013742	25013742	Human		name
597649009	CV3551763	single nucleotide variant	NM_139058.3(ARX):c.125G>T (p.Arg42Leu)	not provided [RCV004820476]	uncertain significance	X	25015613	25015613	Human		name
597651549	CV3552016	single nucleotide variant	NM_139058.3(ARX):c.259C>T (p.Arg87Cys)	not provided [RCV004820729]	uncertain significance	X	25013736	25013736	Human		name
597718366	CV3583407	single nucleotide variant	NM_139058.3(ARX):c.284G>T (p.Arg95Leu)	Inborn genetic diseases [RCV004960125]	uncertain significance	X	25013711	25013711	Human	1	name
12741198	CV360592	single nucleotide variant	NM_139058.3(ARX):c.196G>A (p.Gly66Ser)	not provided [RCV000414387]	uncertain significance	X	25015542	25015542	Human		name
12850040	CV364009	single nucleotide variant	NM_139058.3(ARX):c.223T>G (p.Phe75Val)	Developmental and epileptic encephalopathy, 1 [RCV000466760]\|Inborn genetic diseases [RCV000623849]\|not provided [RCV000440603]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013772	25013772	Human	2	name , alternate_id
12833037	CV378130	single nucleotide variant	NM_139058.3(ARX):c.1599C>A (p.Ala533=)	Developmental and epileptic encephalopathy, 1 [RCV003766362]\|not specified [RCV000417735]	likely benign	X	25004760	25004760	Human	1	name , alternate_id
12843091	CV379287	single nucleotide variant	NM_139058.3(ARX):c.1260T>G (p.Pro420=)	Developmental and epileptic encephalopathy, 1 [RCV003766244]\|not specified [RCV000435602]	likely benign	X	25007299	25007299	Human	1	name , alternate_id
12847598	CV380024	single nucleotide variant	NM_139058.3(ARX):c.1377G>A (p.Pro459=)	not specified [RCV000443769]	likely benign	X	25007182	25007182	Human		name
12846351	CV380025	single nucleotide variant	NM_139058.3(ARX):c.1272G>T (p.Pro424=)	Developmental and epileptic encephalopathy, 1 [RCV001519758]\|not provided [RCV001720031]	benign\|likely benign	X	25007287	25007287	Human	1	name , alternate_id
597857531	CV3864682	single nucleotide variant	NM_139058.3(ARX):c.172G>A (p.Ala58Thr)	Developmental and epileptic encephalopathy, 1 [RCV005213738]	uncertain significance	X	25015566	25015566	Human	1	name , alternate_id
597908475	CV3870475	single nucleotide variant	NM_139058.3(ARX):c.1551G>A (p.Leu517=)	Developmental and epileptic encephalopathy, 1 [RCV005221526]	likely benign	X	25004808	25004808	Human	1	name , alternate_id
597877314	CV3871570	single nucleotide variant	NM_139058.3(ARX):c.1644G>A (p.Gln548=)	Developmental and epileptic encephalopathy, 1 [RCV005216786]	likely benign	X	25004715	25004715	Human	1	name , alternate_id
597926039	CV3873926	single nucleotide variant	NM_139058.3(ARX):c.1284C>G (p.Ser428=)	Developmental and epileptic encephalopathy, 1 [RCV005224197]	likely benign	X	25007275	25007275	Human	1	name , alternate_id
597844670	CV3875813	single nucleotide variant	NM_139058.3(ARX):c.229G>T (p.Ala77Ser)	Developmental and epileptic encephalopathy, 1 [RCV005211895]	uncertain significance	X	25013766	25013766	Human	1	name , alternate_id
597844676	CV3875814	single nucleotide variant	NM_139058.3(ARX):c.220C>A (p.Pro74Thr)	Developmental and epileptic encephalopathy, 1 [RCV005211896]	uncertain significance	X	25013775	25013775	Human	1	name , alternate_id
597844682	CV3875815	single nucleotide variant	NM_139058.3(ARX):c.190G>T (p.Val64Leu)	Developmental and epileptic encephalopathy, 1 [RCV005211897]	uncertain significance	X	25015548	25015548	Human	1	name , alternate_id
597899160	CV3876168	single nucleotide variant	NM_139058.3(ARX):c.1572C>G (p.Ala524=)	Developmental and epileptic encephalopathy, 1 [RCV005220058]	likely benign	X	25004787	25004787	Human	1	name , alternate_id
597857516	CV3877806	single nucleotide variant	NM_139058.3(ARX):c.1440A>T (p.Ala480=)	Developmental and epileptic encephalopathy, 1 [RCV005229115]	likely benign	X	25007119	25007119	Human	1	name , alternate_id
12888907	CV404174	single nucleotide variant	NM_139058.3(ARX):c.1059G>A (p.Pro353=)	Developmental and epileptic encephalopathy, 1 [RCV001446121]	likely benign	X	25012936	25012936	Human	1	name , alternate_id
13468462	CV470657	single nucleotide variant	NM_139058.3(ARX):c.1515A>G (p.Thr505=)	ARX-related disorder [RCV003945294]\|Developmental and epileptic encephalopathy, 1 [RCV000558656]\|Inborn genetic diseases [RCV002395453]\|not provided [RCV001702805]	likely benign	X	25004844	25004844	Human	3	name , trait , alternate_id
13525448	CV508020	single nucleotide variant	NM_139058.3(ARX):c.1461A>G (p.Thr487=)	not specified [RCV000603180]	likely benign	X	25004898	25004898	Human		name
13534362	CV508145	single nucleotide variant	NM_139058.3(ARX):c.1521C>A (p.Ala507=)	ARX-related disorder [RCV003892349]\|Developmental and epileptic encephalopathy, 1 [RCV000650186]\|not specified [RCV000607313]	benign\|likely benign	X	25004838	25004838	Human	2	name , trait , alternate_id
13537557	CV508521	single nucleotide variant	NM_139058.3(ARX):c.1263G>C (p.Pro421=)	Developmental and epileptic encephalopathy, 1 [RCV001489556]\|not specified [RCV000610575]	likely benign	X	25007296	25007296	Human	1	name , alternate_id
13534646	CV508643	single nucleotide variant	NM_139058.3(ARX):c.1533A>G (p.Ala511=)	Developmental and epileptic encephalopathy, 1 [RCV002529652]\|not specified [RCV000607392]	likely benign	X	25004826	25004826	Human	1	name , alternate_id
13532085	CV512649	single nucleotide variant	NM_139058.3(ARX):c.110G>T (p.Ser37Ile)	Inborn genetic diseases [RCV000623899]	uncertain significance	X	25015628	25015628	Human	1	name
13622740	CV534707	single nucleotide variant	NM_139058.3(ARX):c.215G>C (p.Ser72Thr)	Developmental and epileptic encephalopathy, 1 [RCV000650177]\|Inborn genetic diseases [RCV002424522]	benign\|uncertain significance	X	25013780	25013780	Human	2	name , alternate_id
13814392	CV573774	single nucleotide variant	NM_139058.3(ARX):c.187G>A (p.Ala63Thr)	Developmental and epileptic encephalopathy, 1 [RCV000705004]\|Developmental and epileptic encephalopathy, 1 [RCV000764874]\|not provided [RCV001544836]\|not specified [RCV000779753]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25015551	25015551	Human	1	name , alternate_id
13814983	CV575383	single nucleotide variant	NM_139058.3(ARX):c.1668C>T (p.Ser556=)	Developmental and epileptic encephalopathy, 1 [RCV000705401]\|not provided [RCV000842306]	likely benign\|uncertain significance	X	25004691	25004691	Human	1	name , alternate_id
14397371	CV613245	single nucleotide variant	NM_139058.3(ARX):c.1605G>C (p.Leu535=)	Developmental and epileptic encephalopathy, 1 [RCV002067205]\|not provided [RCV000762614]	likely benign	X	25004754	25004754	Human	1	name , alternate_id
14704586	CV626384	deletion	NM_139058.3(ARX):c.196+129_1073+903del	ARX-associated condition [RCV000791289]	pathogenic	X	25012019	25015413	Human		name , trait
14739550	CV649946	single nucleotide variant	NM_139058.3(ARX):c.158C>G (p.Pro53Arg)	Developmental and epileptic encephalopathy, 1 [RCV000821411]	uncertain significance	X	25015580	25015580	Human	1	name , alternate_id
15157211	CV689455	single nucleotide variant	NM_139058.3(ARX):c.1599C>G (p.Ala533=)	Developmental and epileptic encephalopathy, 1 [RCV000868394]\|Inborn genetic diseases [RCV002399914]\|not provided [RCV001712817]	benign\|likely benign	X	25004760	25004760	Human	2	name , alternate_id
15151859	CV689456	single nucleotide variant	NM_139058.3(ARX):c.1572C>T (p.Ala524=)	Developmental and epileptic encephalopathy, 1 [RCV001472314]\|not provided [RCV000867328]	likely benign	X	25004787	25004787	Human	1	name , alternate_id
15139832	CV689457	single nucleotide variant	NM_139058.3(ARX):c.1488C>T (p.Thr496=)	Developmental and epileptic encephalopathy, 1 [RCV000865069]\|not provided [RCV003884756]	likely benign	X	25004871	25004871	Human	1	name , alternate_id
15103487	CV706194	single nucleotide variant	NM_139058.3(ARX):c.1518C>G (p.Pro506=)	Developmental and epileptic encephalopathy, 1 [RCV001422882]	likely benign	X	25004841	25004841	Human	1	name , alternate_id
15202409	CV773965	single nucleotide variant	NM_139058.3(ARX):c.1587C>T (p.Ala529=)	Developmental and epileptic encephalopathy, 1 [RCV001401526]	likely benign	X	25004772	25004772	Human	1	name , alternate_id
15103086	CV773966	single nucleotide variant	NM_139058.3(ARX):c.1104C>T (p.Thr368=)	Developmental and epileptic encephalopathy, 1 [RCV002066161]	likely benign	X	25010275	25010275	Human	1	name , alternate_id
15118852	CV773967	single nucleotide variant	NM_139058.3(ARX):c.1033C>A (p.Arg345=)	Developmental and epileptic encephalopathy, 1 [RCV000940083]	likely benign	X	25012962	25012962	Human	1	name , alternate_id
15107216	CV786787	single nucleotide variant	NM_139058.3(ARX):c.1674C>A (p.Gly558=)	Developmental and epileptic encephalopathy, 1 [RCV001423007]	likely benign	X	25004685	25004685	Human	1	name , alternate_id
15129370	CV786788	single nucleotide variant	NM_139058.3(ARX):c.1569G>C (p.Ala523=)	Developmental and epileptic encephalopathy, 1 [RCV001506335]	likely benign	X	25004790	25004790	Human	1	name , alternate_id
15130061	CV786789	single nucleotide variant	NM_139058.3(ARX):c.1491G>T (p.Ala497=)	Developmental and epileptic encephalopathy, 1 [RCV001396772]	likely benign	X	25004868	25004868	Human	1	name , alternate_id
15124935	CV786790	single nucleotide variant	NM_139058.3(ARX):c.1209G>A (p.Pro403=)	Developmental and epileptic encephalopathy, 1 [RCV001441372]	likely benign	X	25007350	25007350	Human	1	name , alternate_id
15139271	CV786791	single nucleotide variant	NM_139058.3(ARX):c.1182C>T (p.His394=)	Developmental and epileptic encephalopathy, 1 [RCV002066501]	likely benign	X	25007377	25007377	Human	1	name , alternate_id
21070458	CV798264	single nucleotide variant	NM_139058.3(ARX):c.1209G>C (p.Pro403=)	Developmental and epileptic encephalopathy, 1 [RCV001415888]\|not provided [RCV000999358]	likely benign\|uncertain significance	X	25007350	25007350	Human	1	name , alternate_id
28908405	CV860838	single nucleotide variant	NM_139058.3(ARX):c.1311C>A (p.Ala437=)	Developmental and epileptic encephalopathy, 1 [RCV003769030]\|not provided [RCV001093394]	likely benign	X	25007248	25007248	Human	1	name , alternate_id
38490510	CV929681	single nucleotide variant	NM_139058.3(ARX):c.179C>T (p.Pro60Leu)	Developmental and epileptic encephalopathy, 1 [RCV001222190]	uncertain significance	X	25015559	25015559	Human	1	name , alternate_id
38484596	CV951732	single nucleotide variant	NM_139058.3(ARX):c.250A>C (p.Lys84Gln)	Developmental and epileptic encephalopathy, 1 [RCV001236434]	uncertain significance	X	25013745	25013745	Human	1	name , alternate_id
38473901	CV951733	single nucleotide variant	NM_139058.3(ARX):c.155C>A (p.Ala52Asp)	Developmental and epileptic encephalopathy, 1 [RCV001231991]	uncertain significance	X	25015583	25015583	Human	1	name , alternate_id
126769477	CV1014874	single nucleotide variant	NM_139058.3(ARX):c.944C>T (p.Ala315Val)	Developmental and epileptic encephalopathy, 1 [RCV001321985]	uncertain significance	X	25013051	25013051	Human	1	name , alternate_id
126771546	CV1014875	single nucleotide variant	NM_139058.3(ARX):c.440C>T (p.Ala147Val)	Developmental and epileptic encephalopathy, 1 [RCV001323225]\|Inborn genetic diseases [RCV004960770]	likely benign\|uncertain significance	X	25013555	25013555	Human	2	name , alternate_id
126728602	CV1018976	single nucleotide variant	NM_139058.3(ARX):c.379C>T (p.Pro127Ser)	X-linked lissencephaly with abnormal genitalia [RCV001332906]	uncertain significance	X	25013616	25013616	Human	1	name
8643368	CV102351	single nucleotide variant	NM_139058.3(ARX):c.590G>A (p.Gly197Asp)	not provided [RCV001576440]	likely benign\|not provided	X	25013405	25013405	Human		name
8643369	CV102352	single nucleotide variant	NM_139058.3(ARX):c.593T>C (p.Val198Ala)	Inborn genetic diseases [RCV003253766]	uncertain significance\|not provided	X	25013402	25013402	Human	1	name
8643372	CV102355	single nucleotide variant	NM_139058.2(ARX):c.661A>G (p.Thr221Ala)	not provided [RCV000082611]	not provided	X	25013334	25013334	Human		name
8643373	CV102356	single nucleotide variant	NM_139058.3(ARX):c.803T>G (p.Val268Gly)	not provided [RCV003141553]	uncertain significance\|not provided	X	25013192	25013192	Human		name
8643376	CV102359	single nucleotide variant	NM_139058.2(ARX):c.983A>G (p.Gln328Arg)	not provided [RCV000082615]	not provided	X	25013012	25013012	Human		name
126728306	CV1035462	single nucleotide variant	NM_139058.3(ARX):c.664G>A (p.Gly222Ser)	Developmental and epileptic encephalopathy, 1 [RCV001348892]	uncertain significance	X	25013331	25013331	Human	1	name , alternate_id
126765330	CV1035466	single nucleotide variant	NM_139058.3(ARX):c.346A>G (p.Thr116Ala)	Developmental and epileptic encephalopathy, 1 [RCV001341990]	uncertain significance	X	25013649	25013649	Human	1	name , alternate_id
126924061	CV1052388	single nucleotide variant	NM_139058.3(ARX):c.821T>C (p.Val274Ala)	ARX-related disorder [RCV003416273]\|Developmental and epileptic encephalopathy, 1 [RCV001366587]\|Inborn genetic diseases [RCV004036976]\|not provided [RCV003136037]	likely benign\|uncertain significance	X	25013174	25013174	Human	3	name , trait , alternate_id
126919643	CV1052389	single nucleotide variant	NM_139058.3(ARX):c.694G>A (p.Glu232Lys)	Developmental and epileptic encephalopathy, 1 [RCV001362413]	uncertain significance	X	25013301	25013301	Human	1	name , alternate_id
126923790	CV1052390	single nucleotide variant	NM_139058.3(ARX):c.678C>G (p.Asp226Glu)	Developmental and epileptic encephalopathy, 1 [RCV001366251]\|not provided [RCV005232291]	uncertain significance	X	25013317	25013317	Human	1	name , alternate_id
127260645	CV1065325	duplication	NM_139058.3(ARX):c.1443dup (p.Gly482fs)	Developmental and epileptic encephalopathy, 1 [RCV001387395]	pathogenic	X	25007115	25007116	Human	1	name , alternate_id
127274470	CV1065779	single nucleotide variant	NM_139058.3(ARX):c.994C>T (p.Arg332Cys)	Corpus callosum, agenesis of [RCV001391250]\|not provided [RCV004584894]	pathogenic\|likely pathogenic	X	25013001	25013001	Human	2	name
127261700	CV1087410	single nucleotide variant	NM_139058.3(ARX):c.659G>C (p.Gly220Ala)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001420597]	uncertain significance	X	25013336	25013336	Human	1	name , trait
127317877	CV1129616	single nucleotide variant	NM_139058.3(ARX):c.457G>A (p.Ala153Thr)	Developmental and epileptic encephalopathy, 1 [RCV001466016]	likely benign	X	25013538	25013538	Human	1	name , alternate_id
150417241	CV1195742	single nucleotide variant	NM_139058.3(ARX):c.488A>G (p.Gln163Arg)	not provided [RCV001568683]	uncertain significance	X	25013507	25013507	Human		name
150496636	CV1206142	single nucleotide variant	NM_139058.3(ARX):c.739G>C (p.Asp247His)	Developmental and epileptic encephalopathy, 1 [RCV001866194]\|not provided [RCV001593824]	likely benign\|uncertain significance	X	25013256	25013256	Human	1	name , alternate_id
150431533	CV1243728	single nucleotide variant	NM_139058.3(ARX):c.623C>T (p.Ala208Val)	not provided [RCV001663348]	uncertain significance	X	25013372	25013372	Human		name
150520522	CV1289709	deletion	NM_139058.3(ARX):c.1472del (p.Leu491fs)	Developmental and epileptic encephalopathy, 1 [RCV001730128]	pathogenic	X	25004887	25004887	Human	1	name
150546473	CV1313758	single nucleotide variant	NM_139058.3(ARX):c.571G>T (p.Glu191Ter)	not provided [RCV001784856]	pathogenic	X	25013424	25013424	Human		name
151235185	CV1318446	single nucleotide variant	NM_139058.3(ARX):c.406G>A (p.Gly136Arg)	not provided [RCV001794769]	uncertain significance	X	25013589	25013589	Human		name
151663410	CV1331105	single nucleotide variant	NM_139058.3(ARX):c.946G>T (p.Gly316Cys)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001825278]	not provided	X	25013049	25013049	Human		name , trait , alternate_id
151806293	CV1338153	single nucleotide variant	NM_139058.3(ARX):c.365G>A (p.Arg122His)	Developmental and epileptic encephalopathy, 1 [RCV001932382]\|not provided [RCV002074429]	uncertain significance	X	25013630	25013630	Human	1	name , alternate_id
151833446	CV1344845	single nucleotide variant	NM_139058.3(ARX):c.994C>G (p.Arg332Gly)	Developmental and epileptic encephalopathy, 1 [RCV001989538]\|Developmental and epileptic encephalopathy, 1 [RCV002479706]	pathogenic\|likely pathogenic	X	25013001	25013001	Human	1	name , alternate_id
151823976	CV1346743	single nucleotide variant	NM_139058.3(ARX):c.541C>A (p.Pro181Thr)	Developmental and epileptic encephalopathy, 1 [RCV001970323]	uncertain significance	X	25013454	25013454	Human	1	name , alternate_id
151785384	CV1350719	single nucleotide variant	NM_139058.3(ARX):c.373G>A (p.Ala125Thr)	Developmental and epileptic encephalopathy, 1 [RCV001891511]\|not provided [RCV003136271]	uncertain significance	X	25013622	25013622	Human	1	name , alternate_id
151770890	CV1354480	single nucleotide variant	NM_139058.3(ARX):c.592G>A (p.Val198Ile)	Developmental and epileptic encephalopathy, 1 [RCV001867320]\|not provided [RCV003438881]	uncertain significance	X	25013403	25013403	Human	1	name , alternate_id
151667728	CV1364473	single nucleotide variant	NM_139058.3(ARX):c.619G>T (p.Val207Leu)	Developmental and epileptic encephalopathy, 1 [RCV001991033]	uncertain significance	X	25013376	25013376	Human	1	name , alternate_id
151714885	CV1364980	single nucleotide variant	NM_139058.3(ARX):c.389C>T (p.Pro130Leu)	Developmental and epileptic encephalopathy, 1 [RCV002017843]	uncertain significance	X	25013606	25013606	Human	1	name , alternate_id
151715258	CV1382453	single nucleotide variant	NM_139058.3(ARX):c.766G>A (p.Ala256Thr)	Developmental and epileptic encephalopathy, 1 [RCV002019334]	uncertain significance	X	25013229	25013229	Human	1	name , alternate_id
151813740	CV1383347	single nucleotide variant	NM_139058.3(ARX):c.415C>A (p.Pro139Thr)	Developmental and epileptic encephalopathy, 1 [RCV001947920]	uncertain significance	X	25013580	25013580	Human	1	name , alternate_id
151794426	CV1387119	single nucleotide variant	NM_139058.3(ARX):c.421G>A (p.Gly141Ser)	Developmental and epileptic encephalopathy, 1 [RCV001910354]\|Inborn genetic diseases [RCV002331453]	benign\|uncertain significance	X	25013574	25013574	Human	2	name , alternate_id
151830002	CV1388306	single nucleotide variant	NM_139058.3(ARX):c.773C>A (p.Ala258Glu)	Developmental and epileptic encephalopathy, 1 [RCV001982356]	uncertain significance	X	25013222	25013222	Human	1	name , alternate_id
151785239	CV1412134	single nucleotide variant	NM_139058.3(ARX):c.430G>T (p.Ala144Ser)	Developmental and epileptic encephalopathy, 1 [RCV001891312]\|not provided [RCV002281198]	uncertain significance	X	25013565	25013565	Human	1	name , alternate_id
151786770	CV1424723	single nucleotide variant	NM_139058.3(ARX):c.706G>C (p.Asp236His)	Developmental and epileptic encephalopathy, 1 [RCV001894584]	uncertain significance	X	25013289	25013289	Human	1	name , alternate_id
151788743	CV1437642	single nucleotide variant	NM_139058.3(ARX):c.452C>T (p.Ala151Val)	Developmental and epileptic encephalopathy, 1 [RCV001899206]	uncertain significance	X	25013543	25013543	Human	1	name , alternate_id
151715054	CV1468972	single nucleotide variant	NM_139058.3(ARX):c.610C>A (p.Arg204Ser)	Developmental and epileptic encephalopathy, 1 [RCV002018485]	uncertain significance	X	25013385	25013385	Human	1	name , alternate_id
151829653	CV1488119	single nucleotide variant	NM_139058.3(ARX):c.644C>T (p.Pro215Leu)	Developmental and epileptic encephalopathy, 1 [RCV001981663]	uncertain significance	X	25013351	25013351	Human	1	name , alternate_id
151711595	CV1491520	single nucleotide variant	NM_139058.3(ARX):c.787C>T (p.Pro263Ser)	Developmental and epileptic encephalopathy, 1 [RCV002003577]	uncertain significance	X	25013208	25013208	Human	1	name , alternate_id
151714462	CV1501771	single nucleotide variant	NM_139058.3(ARX):c.563C>G (p.Ala188Gly)	Developmental and epileptic encephalopathy, 1 [RCV002015965]	uncertain significance	X	25013432	25013432	Human	1	name , alternate_id
151720997	CV1516939	single nucleotide variant	NM_139058.3(ARX):c.455C>G (p.Ala152Gly)	Developmental and epileptic encephalopathy, 1 [RCV002038353]	uncertain significance	X	25013540	25013540	Human	1	name , alternate_id
151728004	CV1517461	deletion	NM_139058.3(ARX):c.1206del (p.Pro403fs)	X-linked lissencephaly with abnormal genitalia [RCV002052077]	likely pathogenic	X	25007353	25007353	Human	1	name
152097761	CV1650224	single nucleotide variant	NM_139058.3(ARX):c.433G>T (p.Ala145Ser)	Developmental and epileptic encephalopathy, 1 [RCV002114920]\|Developmental and epileptic encephalopathy, 1 [RCV002254363]	benign\|uncertain significance	X	25013562	25013562	Human	1	name , alternate_id
152043000	CV1657676	single nucleotide variant	NM_139058.3(ARX):c.361C>A (p.Pro121Thr)	Developmental and epileptic encephalopathy, 1 [RCV002165933]	benign	X	25013634	25013634	Human	1	name , alternate_id
9589782	CV166526	single nucleotide variant	NM_139058.3(ARX):c.802G>T (p.Val268Leu)	ARX-related disorder [RCV003927416]\|Developmental and epileptic encephalopathy, 1 [RCV001088857]\|Inborn genetic diseases [RCV002408644]\|not provided [RCV000650188]\|not specified [RCV000144815]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013193	25013193	Human	3	name , trait , alternate_id
152113619	CV1665415	single nucleotide variant	NM_139058.3(ARX):c.770G>C (p.Arg257Pro)	Developmental and epileptic encephalopathy, 1 [RCV002097180]\|not specified [RCV005238188]	likely benign\|uncertain significance	X	25013225	25013225	Human	1	name , alternate_id
9684289	CV167592	deletion	NM_139058.3(ARX):c.1372del (p.Ala458fs)	X-linked lissencephaly with abnormal genitalia [RCV000145043]	pathogenic	X	25007187	25007187	Human	1	name
9684293	CV167596	deletion	NM_139058.3(ARX):c.1465del (p.Ala489fs)	Developmental and epileptic encephalopathy, 1 [RCV000011957]\|X-linked lissencephaly with abnormal genitalia [RCV000145047]	pathogenic	X	25004894	25004894	Human	2	name
9684294	CV167597	deletion	NM_139058.3(ARX):c.1544del (p.Gly515fs)	epileptic encephalopathy, early infanitle, 1 [RCV000145048]	pathogenic	X	25004815	25004815	Human		name
9684303	CV167606	single nucleotide variant	NM_139058.3(ARX):c.454G>A (p.Ala152Thr)	Developmental and epileptic encephalopathy, 1 [RCV000650175]\|Inborn genetic diseases [RCV002514786]\|not provided [RCV000145057]	uncertain significance	X	25013541	25013541	Human	2	name , alternate_id
9684305	CV167608	single nucleotide variant	NM_139058.3(ARX):c.625G>C (p.Gly209Arg)	Developmental and epileptic encephalopathy, 1 [RCV001237911]\|epileptic encephalopathy, early infanitle, 1 [RCV000145059]\|not provided [RCV000428584]	likely benign\|uncertain significance	X	25013370	25013370	Human	2	name , alternate_id
9684308	CV167611	single nucleotide variant	NM_139058.3(ARX):c.851C>A (p.Thr284Lys)	not specified [RCV000145062]	likely benign	X	25013144	25013144	Human		name
9684310	CV167613	single nucleotide variant	NM_139058.3(ARX):c.995G>T (p.Arg332Leu)	X-linked lissencephaly with abnormal genitalia [RCV000145065]	pathogenic	X	25013000	25013000	Human	1	name
9684311	CV167614	single nucleotide variant	NM_139058.3(ARX):c.998C>G (p.Thr333Ser)	epileptic encephalopathy, early infanitle, 1 [RCV000145067]	pathogenic	X	25012997	25012997	Human		name
152980213	CV1678475	single nucleotide variant	NM_139058.3(ARX):c.578G>C (p.Gly193Ala)	Developmental and epileptic encephalopathy, 1 [RCV003094048]\|not specified [RCV002246981]	uncertain significance	X	25013417	25013417	Human	1	name , alternate_id
153301580	CV1687865	single nucleotide variant	NM_139058.3(ARX):c.919G>T (p.Gly307Cys)	not provided [RCV002265091]	uncertain significance	X	25013076	25013076	Human		name
153302296	CV1688158	single nucleotide variant	NM_139058.3(ARX):c.767C>A (p.Ala256Asp)	not provided [RCV002265384]	uncertain significance	X	25013228	25013228	Human		name
153302907	CV1689694	single nucleotide variant	NM_139058.3(ARX):c.370G>T (p.Glu124Ter)	Developmental and epileptic encephalopathy, 1 [RCV002267683]	pathogenic	X	25013625	25013625	Human	1	name
155267564	CV1697483	deletion	NM_139058.3(ARX):c.1552del (p.Ala518fs)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV002281622]	likely pathogenic	X	25004807	25004807	Human	1	name , trait
155265197	CV1704656	single nucleotide variant	NM_139058.3(ARX):c.653G>T (p.Gly218Val)	not provided [RCV002284872]	uncertain significance	X	25013342	25013342	Human		name
155741559	CV1760578	single nucleotide variant	NM_139058.3(ARX):c.388C>A (p.Pro130Thr)	not provided [RCV002302638]	uncertain significance	X	25013607	25013607	Human		name
155749229	CV1777910	single nucleotide variant	NM_139058.3(ARX):c.347C>T (p.Thr116Met)	Developmental and epileptic encephalopathy, 1 [RCV002304434]	uncertain significance	X	25013648	25013648	Human	1	name , alternate_id
155681025	CV1781374	deletion	NM_139058.3(ARX):c.1430del (p.Ile477fs)	Developmental and epileptic encephalopathy, 1 [RCV002306444]	pathogenic	X	25007129	25007129	Human	1	name
155711046	CV1817789	single nucleotide variant	NM_139058.3(ARX):c.910G>A (p.Gly304Ser)	Inborn genetic diseases [RCV002378668]	uncertain significance	X	25013085	25013085	Human	1	name
156359397	CV1873998	single nucleotide variant	NM_139058.3(ARX):c.826G>A (p.Ala276Thr)	Developmental and epileptic encephalopathy, 1 [RCV003065501]	uncertain significance	X	25013169	25013169	Human	1	name , alternate_id
156359308	CV1897999	single nucleotide variant	NM_139058.3(ARX):c.659G>A (p.Gly220Asp)	Developmental and epileptic encephalopathy, 1 [RCV002602382]	uncertain significance	X	25013336	25013336	Human	1	name , alternate_id
156158605	CV1906727	single nucleotide variant	NM_139058.3(ARX):c.769C>T (p.Arg257Cys)	Developmental and epileptic encephalopathy, 1 [RCV003082803]	uncertain significance	X	25013226	25013226	Human	1	name , alternate_id
156026244	CV1918784	single nucleotide variant	NM_139058.3(ARX):c.596C>A (p.Thr199Lys)	Developmental and epileptic encephalopathy, 1 [RCV002636957]\|Developmental and epileptic encephalopathy, 1 [RCV005208195]\|not provided [RCV003140122]	uncertain significance	X	25013399	25013399	Human	1	name , alternate_id
156350410	CV1978296	single nucleotide variant	NM_139058.3(ARX):c.448G>A (p.Ala150Thr)	Developmental and epileptic encephalopathy, 1 [RCV002601783]	uncertain significance	X	25013547	25013547	Human	1	name , alternate_id
156258512	CV2056976	single nucleotide variant	NM_139058.3(ARX):c.541C>T (p.Pro181Ser)	Developmental and epileptic encephalopathy, 1 [RCV002791934]	uncertain significance	X	25013454	25013454	Human	1	name , alternate_id
156336820	CV2057814	single nucleotide variant	NM_139058.3(ARX):c.887T>C (p.Leu296Pro)	Developmental and epileptic encephalopathy, 1 [RCV002810985]	uncertain significance	X	25013108	25013108	Human	1	name , alternate_id
10408053	CV209010	duplication	NM_139058.3(ARX):c.1471dup (p.Leu491fs)	X-linked lissencephaly with abnormal genitalia [RCV000195080]\|not provided [RCV001815243]	pathogenic\|likely pathogenic	X	25004887	25004888	Human	1	name
10407996	CV209012	duplication	NM_139058.3(ARX):c.1337dup (p.Pro447fs)	X-linked lissencephaly with abnormal genitalia [RCV000193341]	pathogenic	X	25007221	25007222	Human	1	name
10407981	CV209014	deletion	NM_139058.3(ARX):c.1096del (p.Asp366fs)	X-linked lissencephaly with abnormal genitalia [RCV000192868]	pathogenic	X	25010283	25010283	Human	1	name
10406724	CV209016	single nucleotide variant	NM_139058.3(ARX):c.613C>T (p.Leu205Phe)	Developmental and epileptic encephalopathy, 1 [RCV001852546]\|not specified [RCV000193867]	likely benign\|uncertain significance	X	25013382	25013382	Human	1	name , alternate_id
155926402	CV2099603	single nucleotide variant	NM_139058.3(ARX):c.632C>G (p.Pro211Arg)	Developmental and epileptic encephalopathy, 1 [RCV002903595]	benign\|uncertain significance	X	25013363	25013363	Human	1	name , alternate_id
156336486	CV2110081	deletion	NM_139058.3(ARX):c.1111del (p.Arg371fs)	Developmental and epileptic encephalopathy, 1 [RCV002938665]	pathogenic	X	25010268	25010268	Human	1	name , alternate_id
156315666	CV2130331	single nucleotide variant	NM_139058.3(ARX):c.731T>C (p.Leu244Pro)	Developmental and epileptic encephalopathy, 1 [RCV002962887]	uncertain significance	X	25013264	25013264	Human	1	name , alternate_id
156351114	CV2157503	deletion	NM_139058.3(ARX):c.1497del (p.Leu500fs)	Developmental and epileptic encephalopathy, 1 [RCV003030880]	pathogenic	X	25004862	25004862	Human	1	name , alternate_id
155949693	CV2164850	single nucleotide variant	NM_139058.3(ARX):c.838G>C (p.Ala280Pro)	Developmental and epileptic encephalopathy, 1 [RCV003032366]	uncertain significance	X	25013157	25013157	Human	1	name , alternate_id
156070454	CV2172588	single nucleotide variant	NM_139058.3(ARX):c.893A>T (p.His298Leu)	Developmental and epileptic encephalopathy, 1 [RCV003053701]	uncertain significance	X	25013102	25013102	Human	1	name , alternate_id
156331909	CV2220597	single nucleotide variant	NM_139058.3(ARX):c.628G>A (p.Gly210Ser)	Inborn genetic diseases [RCV002718092]	uncertain significance	X	25013367	25013367	Human	1	name
155905795	CV2303182	single nucleotide variant	NM_139058.3(ARX):c.781A>G (p.Lys261Glu)	Inborn genetic diseases [RCV002901770]	uncertain significance	X	25013214	25013214	Human	1	name
155938791	CV2376352	single nucleotide variant	NM_139058.3(ARX):c.446C>A (p.Ala149Glu)	Inborn genetic diseases [RCV002729876]	uncertain significance	X	25013549	25013549	Human	1	name
156389856	CV2380885	single nucleotide variant	NM_139058.3(ARX):c.445G>C (p.Ala149Pro)	Inborn genetic diseases [RCV002680647]	uncertain significance	X	25013550	25013550	Human	1	name
243063506	CV2411826	single nucleotide variant	NM_139058.3(ARX):c.376C>A (p.Pro126Thr)	not provided [RCV003141549]	uncertain significance	X	25013619	25013619	Human		name
243063509	CV2411830	single nucleotide variant	NM_139058.3(ARX):c.668C>A (p.Thr223Asn)	not provided [RCV003141554]	uncertain significance	X	25013327	25013327	Human		name
401827962	CV2417718	single nucleotide variant	NM_139058.3(ARX):c.859G>A (p.Gly287Arg)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV003327593]	uncertain significance	X	25013136	25013136	Human	1	name , trait
11346390	CV243785	single nucleotide variant	NM_139058.3(ARX):c.776T>C (p.Leu259Pro)	Developmental and epileptic encephalopathy, 1 [RCV001421488]\|Inborn genetic diseases [RCV002411064]	likely benign\|uncertain significance	X	25013219	25013219	Human	2	name , alternate_id
329387450	CV2470715	single nucleotide variant	NM_139058.3(ARX):c.395C>T (p.Thr132Ile)	Inborn genetic diseases [RCV003215290]	uncertain significance	X	25013600	25013600	Human	1	name
11560097	CV260303	single nucleotide variant	NM_139058.3(ARX):c.989G>A (p.Arg330His)	Developmental and epileptic encephalopathy, 1 [RCV001253064]\|not provided [RCV000255677]	likely pathogenic	X	25013006	25013006	Human	1	name
8562241	CV26231	single nucleotide variant	NM_139058.3(ARX):c.995G>A (p.Arg332His)	Developmental and epileptic encephalopathy, 1 [RCV002512976]\|X-linked lissencephaly with abnormal genitalia [RCV000011943]\|not provided [RCV000145064]	pathogenic	X	25013000	25013000	Human	2	name , alternate_id
8562243	CV26233	duplication	NM_139058.3(ARX):c.1187dup (p.Gly397fs)	Developmental and epileptic encephalopathy, 1 [RCV001389322]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001194458]\|X-linked lissencephaly with abnormal genitalia [RCV000011945]	pathogenic\|likely pathogenic	X	25007371	25007372	Human	3	name , trait , alternate_id
8562248	CV26238	single nucleotide variant	NM_139058.3(ARX):c.856G>A (p.Gly286Ser)	Developmental and epileptic encephalopathy, 1 [RCV001230602]\|Inborn genetic diseases [RCV004955256]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV000011950]\|not provided [RCV000487519]\|not specified [RCV004700219]	pathogenic\|likely pathogenic\|uncertain significance	X	25013139	25013139	Human	3	name , trait , alternate_id
8562249	CV26239	single nucleotide variant	NM_139058.3(ARX):c.998C>A (p.Thr333Asn)	Corpus callosum agenesis-abnormal genitalia syndrome [RCV000011951]\|not provided [RCV000145066]	pathogenic	X	25012997	25012997	Human	1	name
401750775	CV2700065	single nucleotide variant	NM_139058.3(ARX):c.595A>G (p.Thr199Ala)	Inborn genetic diseases [RCV003253767]	uncertain significance	X	25013400	25013400	Human	1	name
401750778	CV2700066	single nucleotide variant	NM_139058.3(ARX):c.606G>C (p.Glu202Asp)	Inborn genetic diseases [RCV003253768]	uncertain significance	X	25013389	25013389	Human	1	name
401750782	CV2700067	single nucleotide variant	NM_139058.3(ARX):c.620T>C (p.Val207Ala)	Inborn genetic diseases [RCV003253769]	likely benign	X	25013375	25013375	Human	1	name
401719712	CV2737127	single nucleotide variant	NM_139058.3(ARX):c.868T>A (p.Ser290Thr)	not provided [RCV003314066]	uncertain significance	X	25013127	25013127	Human		name
401722341	CV2737664	single nucleotide variant	NM_139058.3(ARX):c.461C>T (p.Ala154Val)	not provided [RCV003314836]	uncertain significance	X	25013534	25013534	Human		name
401798416	CV2739351	single nucleotide variant	NM_139058.3(ARX):c.658G>A (p.Gly220Ser)	not provided [RCV003318999]	uncertain significance	X	25013337	25013337	Human		name
401897886	CV2773098	single nucleotide variant	NM_139058.3(ARX):c.871C>T (p.Pro291Ser)	Inborn genetic diseases [RCV003376033]	uncertain significance	X	25013124	25013124	Human	1	name
401931364	CV2800680	single nucleotide variant	NM_139058.3(ARX):c.610C>T (p.Arg204Cys)	ARX-related disorder [RCV003391276]\|Inborn genetic diseases [RCV005264406]	uncertain significance	X	25013385	25013385	Human	1	name , trait , alternate_id
401946867	CV2831701	single nucleotide variant	NM_139058.3(ARX):c.611G>C (p.Arg204Pro)	Developmental and epileptic encephalopathy, 1 [RCV003445366]	uncertain significance	X	25013384	25013384	Human	1	name
401961224	CV2844607	single nucleotide variant	NM_139058.3(ARX):c.367G>A (p.Gly123Arg)	Developmental and epileptic encephalopathy, 1 [RCV005216127]\|not provided [RCV003480404]	uncertain significance	X	25013628	25013628	Human	1	name , alternate_id
404988712	CV2849646	single nucleotide variant	NM_139058.3(ARX):c.446C>T (p.Ala149Val)	not provided [RCV003490480]	uncertain significance	X	25013549	25013549	Human		name
405021495	CV3081766	single nucleotide variant	NM_139058.3(ARX):c.311C>T (p.Ala104Val)	Developmental and epileptic encephalopathy, 1 [RCV003785372]	uncertain significance	X	25013684	25013684	Human	1	name , alternate_id
405005963	CV3082793	single nucleotide variant	NM_139058.3(ARX):c.670G>A (p.Glu224Lys)	Developmental and epileptic encephalopathy, 1 [RCV003783893]	uncertain significance	X	25013325	25013325	Human	1	name , alternate_id
405013384	CV3083770	single nucleotide variant	NM_139058.3(ARX):c.899A>C (p.Glu300Ala)	Developmental and epileptic encephalopathy, 1 [RCV003784563]	uncertain significance	X	25013096	25013096	Human	1	name , alternate_id
404984994	CV3096537	single nucleotide variant	NM_139058.3(ARX):c.770G>A (p.Arg257His)	Developmental and epileptic encephalopathy, 1 [RCV003792086]	uncertain significance	X	25013225	25013225	Human	1	name , alternate_id
405176030	CV3101120	single nucleotide variant	NM_139058.3(ARX):c.748G>A (p.Glu250Lys)	Developmental and epileptic encephalopathy, 1 [RCV003803507]	uncertain significance	X	25013247	25013247	Human	1	name , alternate_id
405065723	CV3103356	single nucleotide variant	NM_139058.3(ARX):c.437C>G (p.Ala146Gly)	Developmental and epileptic encephalopathy, 1 [RCV003799186]	uncertain significance	X	25013558	25013558	Human	1	name , alternate_id
405172057	CV3104617	single nucleotide variant	NM_139058.3(ARX):c.547G>C (p.Val183Leu)	Developmental and epileptic encephalopathy, 1 [RCV003803115]	uncertain significance	X	25013448	25013448	Human	1	name , alternate_id
405174837	CV3104837	deletion	NM_139058.3(ARX):c.1559del (p.Pro520fs)	Developmental and epileptic encephalopathy, 1 [RCV003803335]	pathogenic	X	25004800	25004800	Human	1	name , alternate_id
405016574	CV3107016	single nucleotide variant	NM_139058.3(ARX):c.442G>C (p.Ala148Pro)	Developmental and epileptic encephalopathy, 1 [RCV003795186]\|not provided [RCV005242438]	uncertain significance	X	25013553	25013553	Human	1	name , alternate_id
405054128	CV3107755	single nucleotide variant	NM_139058.3(ARX):c.713A>T (p.Asp238Val)	Developmental and epileptic encephalopathy, 1 [RCV003808500]	uncertain significance	X	25013282	25013282	Human	1	name , alternate_id
405155858	CV3110407	single nucleotide variant	NM_139058.3(ARX):c.550C>G (p.Pro184Ala)	Developmental and epileptic encephalopathy, 1 [RCV003817928]	uncertain significance	X	25013445	25013445	Human	1	name , alternate_id
405068567	CV3111007	single nucleotide variant	NM_139058.3(ARX):c.641C>A (p.Ala214Asp)	Developmental and epileptic encephalopathy, 1 [RCV003809511]	uncertain significance	X	25013354	25013354	Human	1	name , alternate_id
405076165	CV3111706	single nucleotide variant	NM_139058.3(ARX):c.416C>T (p.Pro139Leu)	Developmental and epileptic encephalopathy, 1 [RCV003810046]	uncertain significance	X	25013579	25013579	Human	1	name , alternate_id
405082743	CV3113538	single nucleotide variant	NM_139058.3(ARX):c.988C>T (p.Arg330Cys)	Developmental and epileptic encephalopathy, 1 [RCV003810555]	uncertain significance	X	25013007	25013007	Human	1	name , alternate_id
404991896	CV3184345	duplication	NM_139058.3(ARX):c.1531dup (p.Ala511fs)	Developmental and epileptic encephalopathy, 1 [RCV003881679]	likely pathogenic	X	25004827	25004828	Human	1	name
405675430	CV3286621	single nucleotide variant	NM_139058.3(ARX):c.799C>G (p.Pro267Ala)	Inborn genetic diseases [RCV004420429]	likely benign	X	25013196	25013196	Human	1	name
405675422	CV3286622	single nucleotide variant	NM_139058.3(ARX):c.805G>C (p.Ala269Pro)	Inborn genetic diseases [RCV004420430]	uncertain significance	X	25013190	25013190	Human	1	name
405675416	CV3286623	single nucleotide variant	NM_139058.3(ARX):c.823G>A (p.Ala275Thr)	Inborn genetic diseases [RCV004420431]	uncertain significance	X	25013172	25013172	Human	1	name
407491876	CV3476490	single nucleotide variant	NM_139058.3(ARX):c.738C>G (p.Asp246Glu)	Inborn genetic diseases [RCV004666968]	uncertain significance	X	25013257	25013257	Human	1	name
407573666	CV3498033	single nucleotide variant	NM_139058.3(ARX):c.584C>T (p.Pro195Leu)	not provided [RCV004702019]	uncertain significance	X	25013411	25013411	Human		name
407573678	CV3498045	single nucleotide variant	NM_139058.3(ARX):c.650C>T (p.Ala217Val)	Partington syndrome [RCV004784216]\|not provided [RCV004702031]	uncertain significance	X	25013345	25013345	Human	1	name
407574506	CV3499517	single nucleotide variant	NM_139058.3(ARX):c.646G>C (p.Ala216Pro)	not provided [RCV004719512]	uncertain significance	X	25013349	25013349	Human		name
408384601	CV3504387	single nucleotide variant	NM_139058.3(ARX):c.647C>G (p.Ala216Gly)	ARX-related disorder [RCV004731945]	uncertain significance	X	25013348	25013348	Human		name , trait , alternate_id
596925190	CV3541771	single nucleotide variant	NM_139058.3(ARX):c.880G>T (p.Glu294Ter)	Developmental and epileptic encephalopathy, 1 [RCV005218334]\|X-linked lissencephaly with abnormal genitalia [RCV004795482]	pathogenic	X	25013115	25013115	Human	2	name , alternate_id
597648017	CV3551561	duplication	NM_139058.3(ARX):c.1273dup (p.Ala425fs)	X-linked lissencephaly with abnormal genitalia [RCV004819938]	likely pathogenic	X	25007285	25007286	Human	1	name
597718357	CV3583389	single nucleotide variant	NM_139058.3(ARX):c.762C>G (p.Asp254Glu)	Inborn genetic diseases [RCV004960124]	uncertain significance	X	25013233	25013233	Human	1	name
12839227	CV378146	single nucleotide variant	NM_139058.3(ARX):c.950G>A (p.Ser317Asn)	Developmental and epileptic encephalopathy, 1 [RCV005222944]\|not provided [RCV000428420]	uncertain significance	X	25013045	25013045	Human	1	name , alternate_id
12838765	CV378149	single nucleotide variant	NM_139058.3(ARX):c.808G>A (p.Ala270Thr)	Developmental and epileptic encephalopathy, 1 [RCV001861498]\|not specified [RCV000427566]	likely benign\|uncertain significance	X	25013187	25013187	Human	1	name , alternate_id
12840275	CV378151	single nucleotide variant	NM_139058.3(ARX):c.674A>T (p.Asp225Val)	Developmental and epileptic encephalopathy, 1 [RCV001861535]\|not provided [RCV000430378]	uncertain significance	X	25013321	25013321	Human	1	name , alternate_id
12842554	CV378152	single nucleotide variant	NM_139058.3(ARX):c.409G>A (p.Glu137Lys)	Inborn genetic diseases [RCV002313110]\|not provided [RCV000434632]	uncertain significance	X	25013586	25013586	Human	1	name
12833269	CV379213	single nucleotide variant	NM_139058.3(ARX):c.811A>G (p.Thr271Ala)	not provided [RCV000418194]	uncertain significance	X	25013184	25013184	Human		name
12832976	CV379217	single nucleotide variant	NM_139058.3(ARX):c.632C>T (p.Pro211Leu)	not specified [RCV000417614]	likely benign	X	25013363	25013363	Human		name
12847955	CV379291	single nucleotide variant	NM_139058.3(ARX):c.644C>A (p.Pro215Gln)	Developmental and epileptic encephalopathy, 1 [RCV002521693]\|not provided [RCV000444412]	uncertain significance	X	25013351	25013351	Human	1	name , alternate_id
12846178	CV380026	single nucleotide variant	NM_139058.3(ARX):c.681G>C (p.Glu227Asp)	Developmental and epileptic encephalopathy, 1 [RCV002522398]\|not provided [RCV000441157]	uncertain significance	X	25013314	25013314	Human	1	name , alternate_id
12841309	CV380027	single nucleotide variant	NM_139058.3(ARX):c.557C>A (p.Pro186Gln)	not provided [RCV000432343]	uncertain significance	X	25013438	25013438	Human		name
597840810	CV3864556	single nucleotide variant	NM_139058.3(ARX):c.857G>A (p.Gly286Asp)	Developmental and epileptic encephalopathy, 1 [RCV005211167]	uncertain significance	X	25013138	25013138	Human	1	name , alternate_id
597838326	CV3866971	single nucleotide variant	NM_139058.3(ARX):c.596C>T (p.Thr199Met)	Developmental and epileptic encephalopathy, 1 [RCV005225963]	uncertain significance	X	25013399	25013399	Human	1	name , alternate_id
597839075	CV3867637	single nucleotide variant	NM_139058.3(ARX):c.745G>A (p.Glu249Lys)	Developmental and epileptic encephalopathy, 1 [RCV005210832]	uncertain significance	X	25013250	25013250	Human	1	name , alternate_id
597840390	CV3867882	single nucleotide variant	NM_139058.3(ARX):c.427G>A (p.Gly143Arg)	Developmental and epileptic encephalopathy, 1 [RCV005211078]	uncertain significance	X	25013568	25013568	Human	1	name , alternate_id
597848873	CV3872888	single nucleotide variant	NM_139058.3(ARX):c.547G>T (p.Val183Leu)	Developmental and epileptic encephalopathy, 1 [RCV005212525]	uncertain significance	X	25013448	25013448	Human	1	name , alternate_id
597844664	CV3875812	single nucleotide variant	NM_139058.3(ARX):c.665G>C (p.Gly222Ala)	Developmental and epileptic encephalopathy, 1 [RCV005211894]	uncertain significance	X	25013330	25013330	Human	1	name , alternate_id
597900832	CV3876567	single nucleotide variant	NM_139058.3(ARX):c.997A>G (p.Thr333Ala)	Developmental and epileptic encephalopathy, 1 [RCV005220265]	uncertain significance	X	25012998	25012998	Human	1	name , alternate_id
598166293	CV3909126	single nucleotide variant	NM_139058.3(ARX):c.475C>T (p.Leu159Phe)	Inborn genetic diseases [RCV005262033]	uncertain significance	X	25013520	25013520	Human	1	name
616939054	CV4015381	single nucleotide variant	NM_139058.3(ARX):c.722A>G (p.Glu241Gly)	not provided [RCV005412892]	uncertain significance	X	25013273	25013273	Human		name
12899132	CV411304	single nucleotide variant	NM_139058.3(ARX):c.389C>A (p.Pro130Gln)	not provided [RCV000479507]	likely benign\|uncertain significance	X	25013606	25013606	Human		name
12913059	CV422457	single nucleotide variant	NM_139058.3(ARX):c.551C>G (p.Pro184Arg)	not specified [RCV000493334]	likely benign\|uncertain significance	X	25013444	25013444	Human		name
13213176	CV430771	deletion	NM_139058.3(ARX):c.1141del (p.Ala381fs)	X-linked lissencephaly with abnormal genitalia [RCV000499705]	pathogenic	X	25007418	25007418	Human	1	name
13500328	CV472116	single nucleotide variant	NM_139058.3(ARX):c.509G>A (p.Ser170Asn)	Developmental and epileptic encephalopathy, 1 [RCV000536507]	uncertain significance	X	25013486	25013486	Human	1	name , alternate_id
13541469	CV508150	single nucleotide variant	NM_139058.3(ARX):c.596C>G (p.Thr199Arg)	Developmental and epileptic encephalopathy, 1 [RCV001360877]\|Inborn genetic diseases [RCV004024952]\|See cases [RCV002252177]\|not provided [RCV001573191]	likely benign\|uncertain significance	X	25013399	25013399	Human	2	name , alternate_id
13532975	CV512646	single nucleotide variant	NM_139058.3(ARX):c.922G>T (p.Glu308Ter)	Inborn genetic diseases [RCV000624744]	pathogenic	X	25013073	25013073	Human	1	name
13531745	CV512647	single nucleotide variant	NM_139058.3(ARX):c.845T>A (p.Val282Glu)	Inborn genetic diseases [RCV000623594]	likely benign\|uncertain significance	X	25013150	25013150	Human	1	name
13531740	CV512648	single nucleotide variant	NM_139058.3(ARX):c.611G>A (p.Arg204His)	ARX-related disorder [RCV003892400]\|Developmental and epileptic encephalopathy, 1 [RCV000981667]\|Inborn genetic diseases [RCV000623588]	likely benign\|uncertain significance	X	25013384	25013384	Human	3	name , trait , alternate_id
13622746	CV534801	single nucleotide variant	NM_139058.3(ARX):c.602C>A (p.Pro201Gln)	ARX-related disorder [RCV003892477]\|Developmental and epileptic encephalopathy, 1 [RCV000650190]	likely benign	X	25013393	25013393	Human	2	name , trait , alternate_id
13811637	CV572394	single nucleotide variant	NM_139058.3(ARX):c.904G>C (p.Ala302Pro)	Developmental and epileptic encephalopathy, 1 [RCV000688886]	uncertain significance	X	25013091	25013091	Human	1	name , alternate_id
13803754	CV573773	single nucleotide variant	NM_139058.3(ARX):c.766G>C (p.Ala256Pro)	Developmental and epileptic encephalopathy, 1 [RCV000699383]	uncertain significance	X	25013229	25013229	Human	1	name , alternate_id
13811482	CV574525	single nucleotide variant	NM_139058.3(ARX):c.769C>G (p.Arg257Gly)	Developmental and epileptic encephalopathy, 1 [RCV000703096]	uncertain significance	X	25013226	25013226	Human	1	name , alternate_id
13830274	CV580949	single nucleotide variant	NM_139058.3(ARX):c.404C>T (p.Pro135Leu)	Developmental and epileptic encephalopathy, 1 [RCV002533044]\|Inborn genetic diseases [RCV002316892]	uncertain significance	X	25013591	25013591	Human	2	name , alternate_id
13832382	CV582876	single nucleotide variant	NM_139058.3(ARX):c.748G>T (p.Glu250Ter)	not provided [RCV000723070]	uncertain significance	X	25013247	25013247	Human		name
13834428	CV585674	single nucleotide variant	NM_139058.3(ARX):c.506T>A (p.Ile169Asn)	not provided [RCV000729942]	uncertain significance	X	25013489	25013489	Human		name
13835128	CV586384	single nucleotide variant	NM_139058.3(ARX):c.629G>C (p.Gly210Ala)	Developmental and epileptic encephalopathy, 1 [RCV001227161]\|not provided [RCV000730840]	uncertain significance	X	25013366	25013366	Human	1	name , alternate_id
14739151	CV649940	single nucleotide variant	NM_139058.3(ARX):c.629G>T (p.Gly210Val)	Developmental and epileptic encephalopathy, 1 [RCV000821223]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001332907]	uncertain significance	X	25013366	25013366	Human	2	name , trait , alternate_id
14741013	CV649941	single nucleotide variant	NM_139058.3(ARX):c.611G>T (p.Arg204Leu)	Developmental and epileptic encephalopathy, 1 [RCV000822062]\|Intellectual disability [RCV001251911]	likely benign\|uncertain significance	X	25013384	25013384	Human	3	name , alternate_id
14730310	CV649942	single nucleotide variant	NM_139058.3(ARX):c.586G>C (p.Gly196Arg)	Developmental and epileptic encephalopathy, 1 [RCV000817345]\|Inborn genetic diseases [RCV001265952]	uncertain significance	X	25013409	25013409	Human	2	name , alternate_id
14739078	CV649943	single nucleotide variant	NM_139058.3(ARX):c.554C>A (p.Pro185Gln)	Developmental and epileptic encephalopathy, 1 [RCV000821192]\|Inborn genetic diseases [RCV002345895]\|not provided [RCV001585760]	likely benign\|uncertain significance	X	25013441	25013441	Human	2	name , alternate_id
14731047	CV649944	single nucleotide variant	NM_139058.3(ARX):c.418G>T (p.Asp140Tyr)	Developmental and epileptic encephalopathy, 1 [RCV000817657]\|Inborn genetic diseases [RCV004958154]	uncertain significance	X	25013577	25013577	Human	2	name , alternate_id
14709968	CV649945	single nucleotide variant	NM_139058.3(ARX):c.411A>C (p.Glu137Asp)	Developmental and epileptic encephalopathy, 1 [RCV000809484]	uncertain significance	X	25013584	25013584	Human	1	name , alternate_id
21404272	CV676972	single nucleotide variant	NM_139058.3(ARX):c.525C>G (p.Tyr175Ter)	X-linked lissencephaly with abnormal genitalia [RCV001002675]	pathogenic	X	25013470	25013470	Human	1	name
15160914	CV689458	single nucleotide variant	NM_139058.3(ARX):c.664G>C (p.Gly222Arg)	Developmental and epileptic encephalopathy, 1 [RCV001492544]	likely benign	X	25013331	25013331	Human	1	name , alternate_id
21070464	CV798265	single nucleotide variant	NM_139058.3(ARX):c.742G>C (p.Glu248Gln)	not provided [RCV000999359]	uncertain significance	X	25013253	25013253	Human		name
25319795	CV806191	deletion	NM_139058.3(ARX):c.1129del (p.Gln377fs)	not provided [RCV001009066]	pathogenic	X	25007430	25007430	Human		name
26897118	CV849916	single nucleotide variant	NM_139058.3(ARX):c.832G>A (p.Ala278Thr)	Developmental and epileptic encephalopathy, 1 [RCV001065208]	likely benign\|uncertain significance	X	25013163	25013163	Human	1	name , alternate_id
26916102	CV849917	single nucleotide variant	NM_139058.3(ARX):c.662C>T (p.Thr221Ile)	Developmental and epileptic encephalopathy, 1 [RCV001039896]	uncertain significance	X	25013333	25013333	Human	1	name , alternate_id
26920603	CV849918	single nucleotide variant	NM_139058.3(ARX):c.553C>T (p.Pro185Ser)	Developmental and epileptic encephalopathy, 1 [RCV001048046]	uncertain significance	X	25013442	25013442	Human	1	name , alternate_id
28908428	CV860839	single nucleotide variant	NM_139058.3(ARX):c.467G>A (p.Trp156Ter)	not provided [RCV001093395]	pathogenic	X	25013528	25013528	Human		name
38477014	CV929676	single nucleotide variant	NM_139058.3(ARX):c.956C>A (p.Ser319Ter)	ARX-related disorder [RCV005250150]\|Developmental and epileptic encephalopathy, 1 [RCV001215936]\|X-linked lissencephaly with abnormal genitalia [RCV001375968]\|not provided [RCV004794506]	pathogenic\|likely pathogenic	X	25013039	25013039	Human	3	name , trait , alternate_id
38485024	CV929677	single nucleotide variant	NM_139058.3(ARX):c.794G>A (p.Arg265His)	Developmental and epileptic encephalopathy, 1 [RCV001219687]\|Seizure [RCV002275311]\|not provided [RCV003318672]	uncertain significance	X	25013201	25013201	Human	3	name , alternate_id
38480832	CV929678	single nucleotide variant	NM_139058.3(ARX):c.714C>G (p.Asp238Glu)	Developmental and epileptic encephalopathy, 1 [RCV001217722]	uncertain significance	X	25013281	25013281	Human	1	name , alternate_id
38486312	CV929680	single nucleotide variant	NM_139058.3(ARX):c.428G>C (p.Gly143Ala)	Developmental and epileptic encephalopathy, 1 [RCV001220243]	uncertain significance	X	25013567	25013567	Human	1	name , alternate_id
38476522	CV939545	single nucleotide variant	NM_139058.3(ARX):c.625G>A (p.Gly209Ser)	Developmental and epileptic encephalopathy, 1 [RCV001204695]\|not provided [RCV001531139]	likely benign\|uncertain significance	X	25013370	25013370	Human	1	name , alternate_id
38456080	CV951730	single nucleotide variant	NM_139058.3(ARX):c.449C>T (p.Ala150Val)	Developmental and epileptic encephalopathy, 1 [RCV001228236]	uncertain significance	X	25013546	25013546	Human	1	name , alternate_id
38481351	CV951731	single nucleotide variant	NM_139058.3(ARX):c.398C>T (p.Ala133Val)	Developmental and epileptic encephalopathy, 1 [RCV001235081]\|not provided [RCV004727022]	uncertain significance	X	25013597	25013597	Human	1	name , alternate_id
40815347	CV971201	single nucleotide variant	NM_139058.3(ARX):c.946G>A (p.Gly316Ser)	Developmental and epileptic encephalopathy, 1 [RCV001262667]	uncertain significance	X	25013049	25013049	Human	1	name
40887270	CV974352	single nucleotide variant	NM_139058.3(ARX):c.368G>T (p.Gly123Val)	Inborn genetic diseases [RCV001266767]	uncertain significance	X	25013627	25013627	Human	1	name
40903574	CV977301	single nucleotide variant	NM_139058.3(ARX):c.437C>T (p.Ala146Val)	Inborn genetic diseases [RCV004035440]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001270894]	uncertain significance	X	25013558	25013558	Human	2	name , trait
126749617	CV999727	single nucleotide variant	NM_139058.3(ARX):c.535G>C (p.Gly179Arg)	Developmental and epileptic encephalopathy, 1 [RCV001306673]	uncertain significance	X	25013460	25013460	Human	1	name , alternate_id
126748078	CV1014872	single nucleotide variant	NM_139058.3(ARX):c.1618A>G (p.Lys540Glu)	Developmental and epileptic encephalopathy, 1 [RCV001315467]	uncertain significance	X	25004741	25004741	Human	1	name , alternate_id
8643357	CV102340	single nucleotide variant	NM_139058.2(ARX):c.1025A>G (p.Glu342Gly)	not provided [RCV000082596]	not provided	X	25012970	25012970	Human		name
8643358	CV102341	single nucleotide variant	NM_139058.2(ARX):c.1060G>A (p.Asp354Asn)	not provided [RCV000082597]	not provided	X	25012935	25012935	Human		name
127304878	CV1159559	single nucleotide variant	NM_139058.3(ARX):c.1345G>A (p.Gly449Ser)	Developmental and epileptic encephalopathy, 1 [RCV001516069]	benign	X	25007214	25007214	Human	1	name , alternate_id
150422248	CV1182094	single nucleotide variant	NM_139058.3(ARX):c.1484C>G (p.Ser495Trp)	not provided [RCV001552449]	uncertain significance	X	25004875	25004875	Human		name
150420971	CV1182095	single nucleotide variant	NM_139058.3(ARX):c.1372G>C (p.Ala458Pro)	not provided [RCV001551800]	uncertain significance	X	25007187	25007187	Human		name
150529566	CV1288251	single nucleotide variant	NM_139058.3(ARX):c.1358T>G (p.Leu453Arg)	Autism [RCV001726719]	uncertain significance	X	25007201	25007201	Human	2	name
150549277	CV1294790	single nucleotide variant	NM_139058.3(ARX):c.1333C>T (p.Pro445Ser)	Developmental and epileptic encephalopathy, 1 [RCV003771929]\|not provided [RCV001752282]	benign\|uncertain significance	X	25007226	25007226	Human	1	name , alternate_id
150531458	CV1301909	single nucleotide variant	NM_139058.3(ARX):c.1532C>A (p.Ala511Glu)	not provided [RCV001757126]	uncertain significance	X	25004827	25004827	Human		name
151235742	CV1319049	single nucleotide variant	NM_139058.3(ARX):c.1495G>A (p.Ala499Thr)	Partington syndrome [RCV001795832]	uncertain significance	X	25004864	25004864	Human	1	name
151352076	CV1322275	single nucleotide variant	NM_139058.3(ARX):c.1623G>C (p.Glu541Asp)	not provided [RCV001806898]	uncertain significance	X	25004736	25004736	Human		name
151348684	CV1324163	single nucleotide variant	NM_139058.3(ARX):c.1073G>A (p.Arg358Lys)	Developmental and epileptic encephalopathy, 1 [RCV001808078]	uncertain significance	X	25012922	25012922	Human	1	name
151350795	CV1324836	microsatellite	NM_139058.3(ARX):c.74CCT[1] (p.Ser26del)	X-linked lissencephaly with abnormal genitalia [RCV001809281]	uncertain significance	X	25015659	25015661	Human		name
151663118	CV1330941	single nucleotide variant	NM_139058.3(ARX):c.1112G>A (p.Arg371Gln)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001825119]\|not provided [RCV004720950]	likely pathogenic	X	25010267	25010267	Human	1	name , trait
151785951	CV1354891	single nucleotide variant	NM_139058.3(ARX):c.1361C>T (p.Pro454Leu)	Developmental and epileptic encephalopathy, 1 [RCV001892841]	uncertain significance	X	25007198	25007198	Human	1	name , alternate_id
151710057	CV1372980	single nucleotide variant	NM_139058.3(ARX):c.1498C>A (p.Leu500Ile)	Developmental and epileptic encephalopathy, 1 [RCV001996530]	uncertain significance	X	25004861	25004861	Human	1	name , alternate_id
151713244	CV1389056	single nucleotide variant	NM_139058.3(ARX):c.1546G>C (p.Ala516Pro)	Developmental and epileptic encephalopathy, 1 [RCV002010607]	uncertain significance	X	25004813	25004813	Human	1	name , alternate_id
151807003	CV1440948	single nucleotide variant	NM_139058.3(ARX):c.1495G>C (p.Ala499Pro)	ARX-related disorder [RCV003892971]\|Developmental and epileptic encephalopathy, 1 [RCV001933696]\|not provided [RCV003222367]	uncertain significance	X	25004864	25004864	Human	2	name , trait , alternate_id
151712964	CV1449561	single nucleotide variant	NM_139058.3(ARX):c.1621G>T (p.Glu541Ter)	Developmental and epileptic encephalopathy, 1 [RCV002009407]	uncertain significance	X	25004738	25004738	Human	1	name , alternate_id
151712974	CV1449616	single nucleotide variant	NM_139058.3(ARX):c.1270C>G (p.Pro424Ala)	Developmental and epileptic encephalopathy, 1 [RCV002009436]	uncertain significance	X	25007289	25007289	Human	1	name , alternate_id
151667848	CV1462804	single nucleotide variant	NM_139058.3(ARX):c.1261C>G (p.Pro421Ala)	Developmental and epileptic encephalopathy, 1 [RCV001991543]	uncertain significance	X	25007298	25007298	Human	1	name , alternate_id
151780822	CV1466156	single nucleotide variant	NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)	Developmental and epileptic encephalopathy, 1 [RCV001883211]	pathogenic	X	25007434	25007434	Human	1	name , alternate_id
151782588	CV1479361	single nucleotide variant	NM_139058.3(ARX):c.1271C>T (p.Pro424Leu)	Developmental and epileptic encephalopathy, 1 [RCV001885942]\|not provided [RCV003154209]	uncertain significance	X	25007288	25007288	Human	1	name , alternate_id
151716593	CV1499015	single nucleotide variant	NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)	Developmental and epileptic encephalopathy, 1 [RCV002023895]	likely pathogenic	X	25004744	25004744	Human	1	name , alternate_id
151716603	CV1499034	single nucleotide variant	NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)	Developmental and epileptic encephalopathy, 1 [RCV002023909]	likely pathogenic	X	25007424	25007424	Human	1	name , alternate_id
151717723	CV1515186	single nucleotide variant	NM_139058.3(ARX):c.1298C>T (p.Ala433Val)	Developmental and epileptic encephalopathy, 1 [RCV002027042]	uncertain significance	X	25007261	25007261	Human	1	name , alternate_id
9589730	CV166473	single nucleotide variant	NM_139058.3(ARX):c.1141G>A (p.Ala381Thr)	not provided [RCV000144762]	pathogenic	X	25007418	25007418	Human		name
9589783	CV166527	single nucleotide variant	NM_139058.3(ARX):c.1216G>A (p.Ala406Thr)	not specified [RCV000144816]	uncertain significance	X	25007343	25007343	Human		name
9589784	CV166528	single nucleotide variant	NM_139058.3(ARX):c.1259C>T (p.Pro420Leu)	not specified [RCV000144817]	uncertain significance	X	25007300	25007300	Human		name
9684284	CV167587	single nucleotide variant	NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)	Developmental and epileptic encephalopathy, 1 [RCV003764880]\|not provided [RCV000145038]	pathogenic	X	25010268	25010268	Human	1	name , alternate_id
9684285	CV167588	single nucleotide variant	NM_139058.3(ARX):c.1121T>A (p.Val374Asp)	X-linked lissencephaly with abnormal genitalia [RCV000145039]	likely pathogenic	X	25007438	25007438	Human	1	name
9684286	CV167589	single nucleotide variant	NM_139058.3(ARX):c.1134C>A (p.Asn378Lys)	X-linked lissencephaly with abnormal genitalia [RCV000145040]	likely pathogenic	X	25007425	25007425	Human	1	name
9684290	CV167593	single nucleotide variant	NM_139058.3(ARX):c.1400G>T (p.Gly467Val)	Developmental and epileptic encephalopathy, 1 [RCV001849975]\|epileptic encephalopathy, early infanitle, 1 [RCV000145044]	uncertain significance	X	25007159	25007159	Human	2	name , alternate_id
9684291	CV167594	single nucleotide variant	NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)	X-linked lissencephaly with abnormal genitalia [RCV000145045]	pathogenic	X	25007145	25007145	Human	1	name
9684292	CV167595	single nucleotide variant	NM_139058.3(ARX):c.1448G>A (p.Arg483Lys)	epileptic encephalopathy, early infanitle, 1 [RCV000145046]	uncertain significance	X	25007111	25007111	Human		name
153001825	CV1682707	single nucleotide variant	NM_139058.3(ARX):c.1151G>T (p.Arg384Leu)	not provided [RCV002251786]	pathogenic	X	25007408	25007408	Human		name
155642644	CV1706342	single nucleotide variant	NM_139058.3(ARX):c.1342C>T (p.Pro448Ser)	not provided [RCV002287198]	uncertain significance	X	25007217	25007217	Human		name
155711912	CV1760209	single nucleotide variant	NM_139058.3(ARX):c.1450C>A (p.Leu484Ile)	Developmental and epileptic encephalopathy, 1 [RCV003774993]\|not provided [RCV002300715]	uncertain significance	X	25004909	25004909	Human	1	name , alternate_id
155749379	CV1773501	single nucleotide variant	NM_139058.3(ARX):c.1142C>G (p.Ala381Gly)	Developmental and epileptic encephalopathy, 1 [RCV002304587]	uncertain significance	X	25007417	25007417	Human	1	name , alternate_id
155716552	CV1774198	single nucleotide variant	NM_139058.3(ARX):c.1354A>G (p.Ser452Gly)	Developmental and epileptic encephalopathy, 1 [RCV002296469]	uncertain significance	X	25007205	25007205	Human	1	name , alternate_id
155717440	CV1827556	single nucleotide variant	NM_139058.3(ARX):c.1583G>T (p.Arg528Leu)	Inborn genetic diseases [RCV002398273]	uncertain significance	X	25004776	25004776	Human	1	name
155732060	CV1833937	single nucleotide variant	NM_139058.3(ARX):c.1624C>A (p.His542Asn)	Inborn genetic diseases [RCV002401119]	uncertain significance	X	25004735	25004735	Human	1	name
155800439	CV1863588	single nucleotide variant	NM_139058.3(ARX):c.1046A>G (p.Lys349Arg)	not provided [RCV002474011]	uncertain significance	X	25012949	25012949	Human		name
156382442	CV1878192	single nucleotide variant	NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)	Developmental and epileptic encephalopathy, 1 [RCV003050594]	likely pathogenic	X	25004759	25004759	Human	1	name , alternate_id
156412407	CV1890563	single nucleotide variant	NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)	Developmental and epileptic encephalopathy, 1 [RCV003072879]	pathogenic	X	25007409	25007409	Human	1	name , alternate_id
155912113	CV1935295	single nucleotide variant	NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)	Developmental and epileptic encephalopathy, 1 [RCV002510624]	uncertain significance	X	25004749	25004749	Human	1	name
156441479	CV1944136	single nucleotide variant	NM_139058.3(ARX):c.1496C>T (p.Ala499Val)	Developmental and epileptic encephalopathy, 1 [RCV003111805]	uncertain significance	X	25004863	25004863	Human	1	name , alternate_id
156328890	CV1990800	single nucleotide variant	NM_139058.3(ARX):c.1369G>A (p.Gly457Arg)	Developmental and epileptic encephalopathy, 1 [RCV002630815]\|not provided [RCV004593041]	uncertain significance	X	25007190	25007190	Human	1	name , alternate_id
156010620	CV2045588	single nucleotide variant	NM_139058.3(ARX):c.1372G>A (p.Ala458Thr)	Developmental and epileptic encephalopathy, 1 [RCV002780121]	uncertain significance	X	25007187	25007187	Human	1	name , alternate_id
10403683	CV209009	single nucleotide variant	NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)	Developmental and epileptic encephalopathy, 1 [RCV001046771]\|Inborn genetic diseases [RCV000624792]\|Intellectual disability [RCV001249486]\|not specified [RCV000193135]	uncertain significance	X	25004798	25004798	Human	4	name , alternate_id
156366334	CV2130671	single nucleotide variant	NM_139058.3(ARX):c.1285G>T (p.Ala429Ser)	Developmental and epileptic encephalopathy, 1 [RCV002967335]	uncertain significance	X	25007274	25007274	Human	1	name , alternate_id
156108179	CV2161096	single nucleotide variant	NM_139058.3(ARX):c.1325C>T (p.Pro442Leu)	Developmental and epileptic encephalopathy, 1 [RCV003038836]\|not provided [RCV005254673]	uncertain significance	X	25007234	25007234	Human	1	name , alternate_id
156143921	CV2178661	single nucleotide variant	NM_139058.3(ARX):c.1448G>C (p.Arg483Thr)	Developmental and epileptic encephalopathy, 1 [RCV003040137]	uncertain significance	X	25007111	25007111	Human	1	name , alternate_id
156295180	CV2183269	single nucleotide variant	NM_139058.3(ARX):c.1273G>A (p.Ala425Thr)	Developmental and epileptic encephalopathy, 1 [RCV003027841]	uncertain significance	X	25007286	25007286	Human	1	name , alternate_id
156345968	CV2373009	single nucleotide variant	NM_139058.3(ARX):c.1556A>C (p.Asp519Ala)	Inborn genetic diseases [RCV002675023]	uncertain significance	X	25004803	25004803	Human	1	name
156434636	CV2403020	single nucleotide variant	NM_139058.3(ARX):c.1165G>A (p.Ala389Thr)	not provided [RCV003126976]	uncertain significance	X	25007394	25007394	Human		name
243063507	CV2411828	single nucleotide variant	NM_139058.3(ARX):c.1161G>C (p.Glu387Asp)	not provided [RCV003141551]	uncertain significance	X	25007398	25007398	Human		name
243049905	CV2417247	single nucleotide variant	NM_139058.3(ARX):c.1204G>T (p.Gly402Trp)	not provided [RCV003152119]	uncertain significance	X	25007355	25007355	Human		name
243053745	CV2418266	single nucleotide variant	NM_139058.3(ARX):c.1676A>T (p.Lys559Met)	not provided [RCV003154331]	uncertain significance	X	25004683	25004683	Human		name
8591635	CV26227	single nucleotide variant	NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)	Developmental and epileptic encephalopathy, 1 [RCV000011939]\|Developmental and epileptic encephalopathy, 1 [RCV004795392]\|Inborn genetic diseases [RCV004658959]	pathogenic	X	25012937	25012937	Human	2	name , alternate_id
8562242	CV26232	single nucleotide variant	NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)	X-linked lissencephaly with abnormal genitalia [RCV000011944]	pathogenic	X	25010262	25010262	Human	1	name
8562246	CV26236	single nucleotide variant	NM_139058.3(ARX):c.1028T>A (p.Leu343Gln)	X-linked lissencephaly with abnormal genitalia [RCV000011948]	pathogenic	X	25012967	25012967	Human	1	name
8562250	CV26240	single nucleotide variant	NM_139058.3(ARX):c.1105G>T (p.Glu369Ter)	Hydranencephaly with abnormal genitalia [RCV000011952]	pathogenic	X	25010274	25010274	Human	1	name
11642233	CV266309	single nucleotide variant	NM_139058.3(ARX):c.1321T>G (p.Phe441Val)	not provided [RCV000371269]	uncertain significance	X	25007238	25007238	Human		name
405023262	CV3081904	single nucleotide variant	NM_139058.3(ARX):c.1604T>C (p.Leu535Pro)	Developmental and epileptic encephalopathy, 1 [RCV003785510]	uncertain significance	X	25004755	25004755	Human	1	name , alternate_id
402520102	CV3091908	single nucleotide variant	NM_139058.3(ARX):c.1315G>A (p.Ala439Thr)	Developmental and epileptic encephalopathy, 1 [RCV003790354]	uncertain significance	X	25007244	25007244	Human	1	name , alternate_id
404984693	CV3096497	single nucleotide variant	NM_139058.3(ARX):c.1070C>A (p.Thr357Asn)	Developmental and epileptic encephalopathy, 1 [RCV003792046]	uncertain significance	X	25012925	25012925	Human	1	name , alternate_id
405030576	CV3098363	single nucleotide variant	NM_139058.3(ARX):c.1399G>A (p.Gly467Arg)	Developmental and epileptic encephalopathy, 1 [RCV003806656]	uncertain significance	X	25007160	25007160	Human	1	name , alternate_id
405006098	CV3098508	single nucleotide variant	NM_139058.3(ARX):c.1670C>G (p.Thr557Arg)	Developmental and epileptic encephalopathy, 1 [RCV003804439]	uncertain significance	X	25004689	25004689	Human	1	name , alternate_id
405021101	CV3101269	single nucleotide variant	NM_139058.3(ARX):c.1312G>A (p.Ala438Thr)	Developmental and epileptic encephalopathy, 1 [RCV003805848]	uncertain significance	X	25007247	25007247	Human	1	name , alternate_id
405172419	CV3104651	single nucleotide variant	NM_139058.3(ARX):c.1568C>T (p.Ala523Val)	Developmental and epileptic encephalopathy, 1 [RCV003803149]\|not specified [RCV004587562]	uncertain significance	X	25004791	25004791	Human	1	name , alternate_id
405041140	CV3106775	single nucleotide variant	NM_139058.3(ARX):c.1202C>T (p.Pro401Leu)	Developmental and epileptic encephalopathy, 1 [RCV003797305]	uncertain significance	X	25007357	25007357	Human	1	name , alternate_id
405053958	CV3107740	single nucleotide variant	NM_139058.3(ARX):c.1240C>G (p.Leu414Val)	Developmental and epileptic encephalopathy, 1 [RCV003808485]	uncertain significance	X	25007319	25007319	Human	1	name , alternate_id
405012529	CV3113998	single nucleotide variant	NM_139058.3(ARX):c.1337C>T (p.Pro446Leu)	Developmental and epileptic encephalopathy, 1 [RCV003805020]	uncertain significance	X	25007222	25007222	Human	1	name , alternate_id
405854377	CV3393012	single nucleotide variant	NM_139058.3(ARX):c.1252C>T (p.Pro418Ser)	not specified [RCV004527169]	uncertain significance	X	25007307	25007307	Human		name
405854005	CV3395475	single nucleotide variant	NM_139058.3(ARX):c.1349C>G (p.Ser450Trp)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV004555731]	uncertain significance	X	25007210	25007210	Human	1	name , trait
407426933	CV3411733	single nucleotide variant	NM_139058.3(ARX):c.1109C>T (p.Ala370Val)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV004767580]\|not provided [RCV004590911]	likely pathogenic\|uncertain significance	X	25010270	25010270	Human	1	name , trait
596931055	CV3529898	single nucleotide variant	NM_139058.3(ARX):c.1658C>T (p.Pro553Leu)	not provided [RCV004780948]	uncertain significance	X	25004701	25004701	Human		name
596930186	CV3531413	single nucleotide variant	NM_139058.3(ARX):c.1670C>A (p.Thr557Lys)	not provided [RCV004779987]	uncertain significance	X	25004689	25004689	Human		name
596942407	CV3544108	single nucleotide variant	NM_139058.3(ARX):c.1226C>G (p.Pro409Arg)	not specified [RCV004800099]	uncertain significance	X	25007333	25007333	Human		name
597718372	CV3583428	single nucleotide variant	NM_139058.3(ARX):c.1537G>A (p.Ala513Thr)	Inborn genetic diseases [RCV004960126]	uncertain significance	X	25004822	25004822	Human	1	name
597718377	CV3583447	single nucleotide variant	NM_139058.3(ARX):c.1643A>T (p.Gln548Leu)	Inborn genetic diseases [RCV004960127]	uncertain significance	X	25004716	25004716	Human	1	name
597834368	CV3735259	single nucleotide variant	NM_139058.3(ARX):c.1142C>T (p.Ala381Val)	Developmental and epileptic encephalopathy, 1 [RCV005054991]	uncertain significance	X	25007417	25007417	Human	1	name
597833724	CV3735682	single nucleotide variant	NM_139058.3(ARX):c.1608G>C (p.Arg536Ser)	not provided [RCV005063544]	likely pathogenic	X	25004751	25004751	Human		name
12838232	CV378135	single nucleotide variant	NM_139058.3(ARX):c.1597G>A (p.Ala533Thr)	not provided [RCV000426593]	uncertain significance	X	25004762	25004762	Human		name
12850142	CV378144	single nucleotide variant	NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)	Developmental and epileptic encephalopathy, 1 [RCV000990555]\|Developmental and epileptic encephalopathy, 1 [RCV001372869]\|not provided [RCV000442107]\|not specified [RCV000779752]	likely pathogenic\|uncertain significance	X	25010274	25010274	Human	1	name , alternate_id
597867612	CV3869320	single nucleotide variant	NM_139058.3(ARX):c.1627G>T (p.Ala543Ser)	Developmental and epileptic encephalopathy, 1 [RCV005215250]	uncertain significance	X	25004732	25004732	Human	1	name , alternate_id
597844659	CV3875811	single nucleotide variant	NM_139058.3(ARX):c.1559C>G (p.Pro520Arg)	Developmental and epileptic encephalopathy, 1 [RCV005211893]	uncertain significance	X	25004800	25004800	Human	1	name , alternate_id
8591642	CV38920	single nucleotide variant	NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)	Developmental and epileptic encephalopathy, 1 [RCV000022857]	pathogenic	X	25004755	25004755	Human	1	name
616939325	CV4015656	single nucleotide variant	NM_139058.3(ARX):c.1274C>A (p.Ala425Glu)	not provided [RCV005413168]	uncertain significance	X	25007285	25007285	Human		name
616936362	CV4016408	single nucleotide variant	NM_139058.3(ARX):c.1001C>A (p.Thr334Lys)	not provided [RCV005415274]	uncertain significance	X	25012994	25012994	Human		name
617149261	CV4017373	single nucleotide variant	NM_139058.3(ARX):c.1171G>A (p.Ala391Thr)	not provided [RCV005417031]	uncertain significance	X	25007388	25007388	Human		name
617149775	CV4017383	single nucleotide variant	NM_139058.3(ARX):c.1457C>T (p.Ser486Phe)	not provided [RCV005417041]	uncertain significance	X	25004902	25004902	Human		name
12888413	CV404535	single nucleotide variant	NM_139058.3(ARX):c.1041C>G (p.Phe347Leu)	Developmental and epileptic encephalopathy, 1 [RCV000470846]	uncertain significance	X	25012954	25012954	Human	1	name , alternate_id
12895230	CV411301	single nucleotide variant	NM_139058.3(ARX):c.1612A>G (p.Lys538Glu)	Corpus callosum agenesis-abnormal genitalia syndrome [RCV002248703]\|not provided [RCV000485667]	pathogenic\|likely pathogenic	X	25004747	25004747	Human	1	name
12905900	CV413819	single nucleotide variant	NM_139058.3(ARX):c.1151G>A (p.Arg384His)	not provided [RCV000488153]	uncertain significance	X	25007408	25007408	Human		name
13215897	CV430770	single nucleotide variant	NM_139058.3(ARX):c.1462A>G (p.Met488Val)	Developmental and epileptic encephalopathy, 1 [RCV001214951]\|Inborn genetic diseases [RCV002395212]\|not provided [RCV001562919]\|not specified [RCV000503084]	likely benign\|uncertain significance	X	25004897	25004897	Human	2	name , alternate_id
13214181	CV430772	single nucleotide variant	NM_139058.3(ARX):c.1135C>G (p.Arg379Gly)	not specified [RCV000500803]	uncertain significance	X	25007424	25007424	Human		name
13486670	CV446620	single nucleotide variant	NM_139058.3(ARX):c.1463T>C (p.Met488Thr)	ARX-related disorder [RCV004752933]\|Developmental and epileptic encephalopathy, 1 [RCV001372572]\|not provided [RCV000522985]	likely benign\|uncertain significance	X	25004896	25004896	Human	2	name , trait , alternate_id
13480313	CV446621	single nucleotide variant	NM_139058.3(ARX):c.1054T>C (p.Tyr352His)	not provided [RCV000521199]	uncertain significance	X	25012941	25012941	Human		name
13506391	CV480424	single nucleotide variant	NM_139058.3(ARX):c.1489G>C (p.Ala497Pro)	Developmental and epileptic encephalopathy, 1 [RCV000576761]	uncertain significance	X	25004870	25004870	Human	1	name
13518189	CV486786	single nucleotide variant	NM_139058.3(ARX):c.1039T>G (p.Phe347Val)	Developmental and epileptic encephalopathy, 1 [RCV000585827]	likely pathogenic	X	25012956	25012956	Human	1	name
13622739	CV534789	single nucleotide variant	NM_139058.3(ARX):c.1388G>A (p.Ser463Asn)	Developmental and epileptic encephalopathy, 1 [RCV000650176]\|not provided [RCV003886426]	benign\|uncertain significance	X	25007171	25007171	Human	1	name , alternate_id
13829527	CV580772	single nucleotide variant	NM_139058.3(ARX):c.1247C>G (p.Ala416Gly)	ARX-related disorder [RCV003918169]\|Developmental and epileptic encephalopathy, 1 [RCV001512734]\|Inborn genetic diseases [RCV002315379]	benign\|likely benign	X	25007312	25007312	Human	3	name , trait , alternate_id
13829122	CV580898	single nucleotide variant	NM_139058.3(ARX):c.1450C>T (p.Leu484Phe)	Developmental and epileptic encephalopathy, 1 [RCV002499310]\|Developmental and epileptic encephalopathy, 1 [RCV005223140]\|Inborn genetic diseases [RCV002314543]	uncertain significance	X	25004909	25004909	Human	2	name , alternate_id
13830820	CV580946	single nucleotide variant	NM_139058.3(ARX):c.1261C>A (p.Pro421Thr)	History of neurodevelopmental disorder [RCV000721047]	uncertain significance	X	25007298	25007298	Human		name
13831685	CV582183	single nucleotide variant	NM_139058.3(ARX):c.1017G>C (p.Gln339His)	not provided [RCV000722366]	uncertain significance	X	25012978	25012978	Human		name
14739871	CV649936	single nucleotide variant	NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)	Developmental and epileptic encephalopathy, 1 [RCV000821543]	pathogenic\|uncertain significance	X	25004780	25004780	Human	1	name , alternate_id
14726919	CV649938	single nucleotide variant	NM_139058.3(ARX):c.1226C>A (p.Pro409Gln)	Developmental and epileptic encephalopathy, 1 [RCV000799400]	uncertain significance	X	25007333	25007333	Human	1	name , alternate_id
21070455	CV798263	single nucleotide variant	NM_139058.3(ARX):c.1479C>G (p.Ser493Arg)	not provided [RCV000999357]	uncertain significance	X	25004880	25004880	Human		name
21404020	CV800920	single nucleotide variant	NM_139058.3(ARX):c.1444G>A (p.Gly482Ser)	Developmental and epileptic encephalopathy, 1 [RCV001003472]	likely pathogenic	X	25007115	25007115	Human	1	name
26919856	CV849914	single nucleotide variant	NM_139058.3(ARX):c.1327A>G (p.Ser443Gly)	Developmental and epileptic encephalopathy, 1 [RCV001046513]\|Inborn genetic diseases [RCV004958398]	uncertain significance	X	25007232	25007232	Human	2	name , alternate_id
26905280	CV849915	single nucleotide variant	NM_139058.3(ARX):c.1039T>C (p.Phe347Leu)	Developmental and epileptic encephalopathy, 1 [RCV001071777]	uncertain significance	X	25012956	25012956	Human	1	name , alternate_id
26902572	CV857625	single nucleotide variant	NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)	Developmental and epileptic encephalopathy, 1 [RCV001089499]\|Developmental and epileptic encephalopathy, 1 [RCV005225221]\|not provided [RCV002505668]	likely pathogenic\|uncertain significance	X	25004752	25004752	Human	1	name , alternate_id
26903028	CV858378	single nucleotide variant	NM_139058.3(ARX):c.1589C>G (p.Ser530Cys)	Developmental and epileptic encephalopathy, 1 [RCV001089719]	uncertain significance	X	25004770	25004770	Human	1	name
28890355	CV903652	single nucleotide variant	NM_139058.3(ARX):c.1253C>G (p.Pro418Arg)	Developmental and epileptic encephalopathy, 1 [RCV001170000]	uncertain significance	X	25007306	25007306	Human	1	name
34888491	CV917753	single nucleotide variant	NM_139058.3(ARX):c.1204G>A (p.Gly402Arg)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001194621]	benign	X	25007355	25007355	Human	1	name , trait
38460332	CV939544	single nucleotide variant	NM_139058.3(ARX):c.1475C>G (p.Thr492Ser)	Developmental and epileptic encephalopathy, 1 [RCV001211809]\|not provided [RCV002473222]	uncertain significance	X	25004884	25004884	Human	1	name , alternate_id
38495687	CV951723	single nucleotide variant	NM_139058.3(ARX):c.1616C>T (p.Ala539Val)	Developmental and epileptic encephalopathy, 1 [RCV001225881]	uncertain significance	X	25004743	25004743	Human	1	name , alternate_id
38458077	CV951724	single nucleotide variant	NM_139058.3(ARX):c.1541C>G (p.Ser514Trp)	Developmental and epileptic encephalopathy, 1 [RCV001228805]	uncertain significance	X	25004818	25004818	Human	1	name , alternate_id
38477341	CV951725	single nucleotide variant	NM_139058.3(ARX):c.1529G>A (p.Gly510Asp)	Developmental and epileptic encephalopathy, 1 [RCV001233444]	benign\|uncertain significance	X	25004830	25004830	Human	1	name , alternate_id
38464904	CV951726	single nucleotide variant	NM_139058.3(ARX):c.1469C>T (p.Pro490Leu)	Developmental and epileptic encephalopathy, 1 [RCV001230060]	uncertain significance	X	25004890	25004890	Human	1	name , alternate_id
38489623	CV951727	single nucleotide variant	NM_139058.3(ARX):c.1186C>G (p.Pro396Ala)	Developmental and epileptic encephalopathy, 1 [RCV001238492]\|not provided [RCV003234012]	uncertain significance	X	25007373	25007373	Human	1	name , alternate_id
38471819	CV951728	single nucleotide variant	NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)	Developmental and epileptic encephalopathy, 1 [RCV001231316]	likely pathogenic\|uncertain significance	X	25007424	25007424	Human	1	name , alternate_id
38598002	CV964599	single nucleotide variant	NM_139058.3(ARX):c.1546G>T (p.Ala516Ser)	Developmental and epileptic encephalopathy, 1 [RCV001253320]\|Developmental and epileptic encephalopathy, 1 [RCV003770316]\|not provided [RCV003321816]	uncertain significance	X	25004813	25004813	Human	1	name , alternate_id
38597868	CV964600	single nucleotide variant	NM_139058.3(ARX):c.1522G>A (p.Val508Met)	Developmental and epileptic encephalopathy, 1 [RCV001253235]	uncertain significance	X	25004837	25004837	Human	1	name
38598452	CV964601	single nucleotide variant	NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)	Developmental and epileptic encephalopathy, 1 [RCV001253619]\|Intellectual disability [RCV001255345]	likely pathogenic\|uncertain significance	X	25007431	25007431	Human	3	name
40815346	CV971200	single nucleotide variant	NM_139058.3(ARX):c.1684T>C (p.Cys562Arg)	Developmental and epileptic encephalopathy, 1 [RCV001262666]	uncertain significance	X	25004675	25004675	Human	1	name
126755273	CV999725	single nucleotide variant	NM_139058.3(ARX):c.1471C>A (p.Leu491Met)	Developmental and epileptic encephalopathy, 1 [RCV001307820]\|Inborn genetic diseases [RCV002393731]\|not specified [RCV005419083]	likely benign\|uncertain significance	X	25004888	25004888	Human	2	name , alternate_id
126727445	CV999726	single nucleotide variant	NM_139058.3(ARX):c.1186C>A (p.Pro396Thr)	Developmental and epileptic encephalopathy, 1 [RCV001303155]\|not provided [RCV003481061]	benign\|uncertain significance	X	25007373	25007373	Human	1	name , alternate_id
8643375	CV102358	deletion	NM_139058.3(ARX):c.980_983del (p.Lys327fs)	not provided [RCV000082614]	pathogenic	X	25013012	25013015	Human		name
151810068	CV1513842	deletion	NM_139058.3(ARX):c.642_645del (p.Pro215fs)	Developmental and epileptic encephalopathy, 1 [RCV001940114]	pathogenic	X	25013350	25013353	Human	1	name , alternate_id
9684301	CV167604	deletion	NM_139058.3(ARX):c.335_368del (p.Ala112fs)	X-linked lissencephaly with abnormal genitalia [RCV000145055]	pathogenic	X	25013627	25013660	Human	1	name
153346516	CV1691796	duplication	NM_139058.3(ARX):c.502_503dup (p.Ser168fs)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV002273279]	pathogenic	X	25013491	25013492	Human	1	name , trait
155962038	CV1936582	deletion	NM_139058.3(ARX):c.435_475del (p.Ala146fs)	not provided [RCV002512401]	pathogenic	X	25013520	25013560	Human		name
156151490	CV2049110	deletion	NM_139058.3(ARX):c.357_391del (p.Gly120fs)	Developmental and epileptic encephalopathy, 1 [RCV002801305]\|Inborn genetic diseases [RCV004064864]	pathogenic	X	25013604	25013638	Human	2	name , alternate_id
156131012	CV2169137	deletion	NM_139058.3(ARX):c.378_459del (p.Pro127fs)	Developmental and epileptic encephalopathy, 1 [RCV003022177]	pathogenic	X	25013536	25013617	Human	1	name , alternate_id
8562239	CV26229	deletion	NM_139058.3(ARX):c.424_455del (p.Ala142fs)	X-linked lissencephaly with abnormal genitalia [RCV000011941]	pathogenic	X	25013540	25013571	Human	1	name
11632642	CV272021	deletion	NM_139058.3(ARX):c.614_642del (p.Leu205fs)	not provided [RCV000272935]	pathogenic	X	25013353	25013381	Human		name
404978188	CV2852327	deletion	NM_139058.3(ARX):c.451_464del (p.Ala151fs)	Developmental and epileptic encephalopathy, 1 [RCV003486493]	pathogenic	X	25013531	25013544	Human	1	name
405161595	CV3109880	deletion	NM_139058.3(ARX):c.486_489del (p.Ser162fs)	Developmental and epileptic encephalopathy, 1 [RCV003802239]	pathogenic	X	25013506	25013509	Human	1	name , alternate_id
596922127	CV3529696	deletion	NM_139058.3(ARX):c.425_456del (p.Ala142fs)	X-linked lissencephaly with abnormal genitalia [RCV004776554]	pathogenic	X	25013539	25013570	Human	1	name
12893047	CV404176	microsatellite	NM_139058.3(ARX):c.306GGC[9] (p.Ala115del)	ARX-related disorder [RCV003972798]\|Developmental and epileptic encephalopathy, 1 [RCV000471578]\|Inborn genetic diseases [RCV002313230]\|not provided [RCV001704579]\|not specified [RCV001821378]	benign\|likely benign	X	25013660	25013662	Human		name , trait , alternate_id
38492434	CV929679	microsatellite	NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup)	Developmental and epileptic encephalopathy, 1 [RCV001223373]\|Intellectual disability [RCV001261373]	uncertain significance	X	25013434	25013435	Human		name , alternate_id
126727898	CV1035467	deletion	NM_139058.3(ARX):c.336_338del (p.Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV001348800]	uncertain significance	X	25013657	25013659	Human	1	name , alternate_id
150449249	CV1275647	deletion	NM_139058.3(ARX):c.463_465del (p.Ala155del)	not provided [RCV001708102]	benign	X	25013530	25013532	Human		name
151798287	CV1396624	microsatellite	NM_139058.3(ARX):c.1265ACC[1] (p.His423del)	Developmental and epileptic encephalopathy, 1 [RCV001917609]	uncertain significance	X	25007289	25007291	Human		name , alternate_id
9684288	CV167591	microsatellite	NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)	Developmental and epileptic encephalopathy, 1 [RCV001088171]\|Inborn genetic diseases [RCV000623262]\|not provided [RCV000145042]\|not specified [RCV000484947]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25007238	25007239	Human		name , alternate_id
9684300	CV167603	microsatellite	NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)	ARX-related disorder [RCV003422032]\|Developmental and epileptic encephalopathy, 1 [RCV000990556]\|Developmental and epileptic encephalopathy, 1 [RCV001081429]\|Inborn genetic diseases [RCV000624905]\|not provided [RCV000152797]\|not specified [RCV000145054]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013659	25013660	Human		name , trait , alternate_id
156289139	CV2115122	deletion	NM_139058.3(ARX):c.303_305del (p.Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV002922077]	likely benign	X	25013690	25013692	Human	1	name , alternate_id
12881821	CV404534	microsatellite	NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del)	ARX-related disorder [RCV003912810]\|Developmental and epileptic encephalopathy, 1 [RCV000458511]\|Inborn genetic diseases [RCV002318529]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001196746]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25007239	25007241	Human		name , trait , alternate_id
8643359	CV102342	microsatellite	NM_139058.3(ARX):c.1151_1152del (p.Arg384fs)	not provided [RCV000082598]	pathogenic	X	25007407	25007408	Human		name
127289992	CV1153076	deletion	NM_139058.3(ARX):c.1406_1415del (p.Ala469fs)	X-linked spasticity-intellectual disability-epilepsy syndrome [RCV001509556]	pathogenic	X	25007144	25007153	Human	1	name
155267563	CV1697482	duplication	NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV002281621]	pathogenic	X	25004832	25004833	Human	1	name , trait
155723835	CV1832544	deletion	NM_139058.3(ARX):c.1384_1406del (p.Leu462fs)	Inborn genetic diseases [RCV002381226]	likely pathogenic	X	25007153	25007175	Human	1	name
11090705	CV232155	microsatellite	NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3])	Developmental and epileptic encephalopathy, 1 [RCV001307414]\|not provided [RCV000216390]	uncertain significance	X	25013324	25013325	Human		name , alternate_id
404985609	CV3096778	deletion	NM_139058.3(ARX):c.1180_1187del (p.His394fs)	Developmental and epileptic encephalopathy, 1 [RCV003792167]	pathogenic	X	25007372	25007379	Human	1	name , alternate_id
405108738	CV3112373	deletion	NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)	Developmental and epileptic encephalopathy, 1 [RCV003813216]	pathogenic	X	25007280	25007286	Human	1	name , alternate_id
12742068	CV360636	duplication	NM_139058.3(ARX):c.1593_1599dup (p.Ala534fs)	not provided [RCV000412797]	pathogenic	X	25004759	25004760	Human		name
12741895	CV361091	microsatellite	NM_139058.3(ARX):c.1579_1582del (p.Arg527fs)	Generalized hypotonia [RCV000415350]	likely pathogenic	X	25004777	25004780	Human		name
13821468	CV574494	deletion	NM_139058.3(ARX):c.1520_1560del (p.Ala507fs)	Developmental and epileptic encephalopathy, 1 [RCV000695939]	uncertain significance	X	25004799	25004839	Human	1	name , alternate_id
21073414	CV792250	deletion	NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)	Corpus callosum agenesis-abnormal genitalia syndrome [RCV002249595]	likely pathogenic	X	25004739	25004766	Human	1	name
21073417	CV792252	deletion	NM_139058.3(ARX):c.1369_1391del (p.Gly457fs)	Developmental and epileptic encephalopathy, 1 [RCV000990554]	pathogenic	X	25007168	25007190	Human	1	name
38491309	CV929675	duplication	NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs)	Developmental and epileptic encephalopathy, 1 [RCV001222747]	pathogenic	X	25007219	25007220	Human	1	name , alternate_id
40889745	CV975613	deletion	NM_139058.3(ARX):c.1256_1260del (p.Phe419fs)	not provided [RCV001268190]	pathogenic	X	25007299	25007303	Human		name
41407307	CV983472	microsatellite	NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)	X-linked lissencephaly with abnormal genitalia [RCV001289542]\|not provided [RCV001819980]	pathogenic	X	25007332	25007333	Human		name
14715122	CV649937	insertion	NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)	Developmental and epileptic encephalopathy, 1 [RCV000794657]	pathogenic\|uncertain significance	X	25004803	25004804	Human	1	name , alternate_id
151715450	CV1411333	indel	NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala)	Developmental and epileptic encephalopathy, 1 [RCV002020074]	uncertain significance	X	25013649	25013650	Human		name , alternate_id
10407978	CV209017	indel	NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)	X-linked lissencephaly with abnormal genitalia [RCV000192847]	pathogenic	X	25013432	25013433	Human		name
12899018	CV411302	insertion	NM_139058.3(ARX):c.1310_1311insGGC (p.Ala440dup)	not specified [RCV000479235]	likely benign	X	25007248	25007249	Human		name
13804824	CV575384	indel	NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe)	Developmental and epileptic encephalopathy, 1 [RCV000685411]	uncertain significance	X	25013520	25013521	Human		name , alternate_id
38497154	CV951729	deletion	NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1])	Developmental and epileptic encephalopathy, 1 [RCV001226880]\|Inborn genetic diseases [RCV002563104]	uncertain significance	X	25013229	25013252	Human	2	name , alternate_id
151796535	CV1502841	microsatellite	NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV001913988]	uncertain significance	X	25013660	25013680	Human		name , alternate_id
9684299	CV167602	microsatellite	NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV000228763]\|Inborn genetic diseases [RCV002453466]\|not specified [RCV000145053]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013660	25013665	Human		name , alternate_id
10050863	CV192561	microsatellite	NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV000812572]\|Inborn genetic diseases [RCV002444704]\|not provided [RCV000724599]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013660	25013671	Human		name , alternate_id
10408045	CV209013	insertion	NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)	X-linked lissencephaly with abnormal genitalia [RCV000194939]	pathogenic	X	25007394	25007395	Human	1	name
13468238	CV470658	microsatellite	NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV000557851]\|Inborn genetic diseases [RCV002448773]\|not provided [RCV001697315]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013660	25013668	Human		name , alternate_id
13464626	CV471844	microsatellite	NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV000543172]\|Developmental and epileptic encephalopathy, 1 [RCV002483482]	uncertain significance	X	25013660	25013677	Human		name , alternate_id
13831823	CV582320	microsatellite	NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV001868920]\|not provided [RCV000722506]	benign\|uncertain significance	X	25013660	25013674	Human		name , alternate_id
126731179	CV1014873	microsatellite	NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del)	ARX-related disorder [RCV003918851]\|Developmental and epileptic encephalopathy, 1 [RCV001312993]\|not provided [RCV003456488]	likely benign\|uncertain significance	X	25007239	25007247	Human		name , trait , alternate_id
8643365	CV102348	deletion	NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV000463305]\|Inborn genetic diseases [RCV002316276]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV000011954]\|not provided [RCV001647067]\|not specified [RCV000082604]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	25013531	25013554	Human	3	name , trait , alternate_id
8643366	CV102349	duplication	NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)	Developmental and epileptic encephalopathy, 1 [RCV000813194]\|Developmental and epileptic encephalopathy, 1 [RCV003883129]\|X-linked lissencephaly with abnormal genitalia [RCV000192670]\|not provided [RCV000082605]	pathogenic	X	25013530	25013531	Human	2	name , alternate_id
126740420	CV1035465	deletion	NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV001350737]	uncertain significance	X	25013530	25013562	Human	1	name , alternate_id
127238661	CV1065326	duplication	NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)	Developmental and epileptic encephalopathy, 1 [RCV001383076]\|Developmental and epileptic encephalopathy, 1 [RCV002290701]\|not provided [RCV001788467]	pathogenic\|likely pathogenic	X	25013671	25013672	Human	1	name , alternate_id
127316776	CV1129617	deletion	NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV001465629]	likely benign	X	25013549	25013554	Human	1	name , alternate_id
150332283	CV1169949	deletion	NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV002071929]\|not provided [RCV001536811]	benign	X	25013540	25013554	Human	1	name , alternate_id
150418863	CV1199467	microsatellite	NM_139058.3(ARX):c.306GGC[15] (p.Ala111_Ala115dup)	not provided [RCV001576923]	uncertain significance	X	25013659	25013660	Human		name
150432890	CV1200877	microsatellite	NM_139058.3(ARX):c.1300GCC[5] (p.Ala439_Ala440del)	Developmental and epileptic encephalopathy, 1 [RCV002573273]\|not provided [RCV001581601]	likely benign\|uncertain significance	X	25007239	25007244	Human		name , alternate_id
150505478	CV1222899	deletion	NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del)	Developmental and epileptic encephalopathy, 1 [RCV002072935]\|not provided [RCV001621834]	benign\|likely benign	X	25013544	25013567	Human	1	name , alternate_id
151715318	CV1395457	deletion	NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV002019693]\|not specified [RCV003230724]	uncertain significance	X	25013654	25013671	Human	1	name , alternate_id
151804287	CV1450803	duplication	NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup)	Developmental and epileptic encephalopathy, 1 [RCV001929288]	uncertain significance	X	25013548	25013549	Human	1	name , alternate_id
151717737	CV1515205	deletion	NM_139058.3(ARX):c.635_646del (p.Gly212_Pro215del)	Developmental and epileptic encephalopathy, 1 [RCV002027059]	uncertain significance	X	25013349	25013360	Human	1	name , alternate_id
152134337	CV1564606	deletion	NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV002199743]	likely benign	X	25013549	25013563	Human	1	name , alternate_id
10050864	CV192562	microsatellite	NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup)	Developmental and epileptic encephalopathy, 1 [RCV001214290]\|not provided [RCV000175970]	uncertain significance	X	25013659	25013660	Human		name , alternate_id
156312449	CV1934560	deletion	NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV002629855]	likely benign	X	25013687	25013692	Human	1	name , alternate_id
10408381	CV209018	duplication	NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup)	X-linked lissencephaly with abnormal genitalia [RCV000193636]	likely pathogenic	X	25013533	25013534	Human	1	name
10407971	CV209024	microsatellite	NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)	Developmental and epileptic encephalopathy, 1 [RCV000798531]\|X-linked lissencephaly with abnormal genitalia [RCV000192640]	pathogenic	X	25013659	25013660	Human		name , alternate_id
8591634	CV26225	microsatellite	NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	Developmental and epileptic encephalopathy, 1 [RCV000011936]\|Developmental and epileptic encephalopathy, 1 [RCV000456891]\|Developmental and epileptic encephalopathy, 1 [RCV004795391]\|Inborn genetic diseases [RCV002316190]\|Intellectual disability, X-linked, with or without seizures, ARX ... (more) -weight:700;'>ARX-related [RCV003323356]\|West syndrome [RCV003488334]\|X-linked lissencephaly with abnormal genitalia [RCV000193540]\|not provided [RCV000399003]	pathogenic\|likely pathogenic	X	25013659	25013660	Human		name , trait , alternate_id
8562238	CV26226	duplication	NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)	Developmental and epileptic encephalopathy, 1 [RCV000011937]\|Developmental and epileptic encephalopathy, 1 [RCV000700342]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV001580167]\|Partington syndrome [RCV000033212]\|not provided [RCV ... (more) 000487265]	pathogenic\|likely pathogenic\|uncertain significance	X	25013543	25013544	Human	3	name , trait , alternate_id
8591637	CV26241	duplication	NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)	Developmental and epileptic encephalopathy, 1 [RCV000011953]\|Developmental and epileptic encephalopathy, 1 [RCV001851801]	pathogenic	X	25013653	25013654	Human	1	name , alternate_id
402489803	CV3090916	deletion	NM_139058.3(ARX):c.336_341del (p.Ala114_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV003787418]	uncertain significance	X	25013654	25013659	Human	1	name , alternate_id
405045984	CV3103958	deletion	NM_139058.3(ARX):c.441_449del (p.Ala153_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV003797676]	likely benign	X	25013546	25013554	Human	1	name , alternate_id
405012589	CV3114172	deletion	NM_139058.3(ARX):c.303_311del (p.Ala113_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV003805026]	likely benign	X	25013684	25013692	Human	1	name , alternate_id
596929753	CV3531130	deletion	NM_139058.3(ARX):c.419_454del (p.Asp140_Ala151del)	Developmental and epileptic encephalopathy, 1 [RCV005221061]\|not provided [RCV004779704]	uncertain significance	X	25013541	25013576	Human	1	name , alternate_id
8591641	CV38918	duplication	NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)	Developmental and epileptic encephalopathy, 1 [RCV000022855]	pathogenic	X	25013533	25013534	Human	1	name
12894931	CV411305	duplication	NM_139058.3(ARX):c.304_345dup (p.Ala102_Ala115dup)	not provided [RCV000484667]	pathogenic	X	25013649	25013650	Human		name
12899660	CV411306	microsatellite	NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup)	ARX-related disorder [RCV003900017]\|Developmental and epileptic encephalopathy, 1 [RCV000537872]\|Inborn genetic diseases [RCV002455920]\|not provided [RCV001712445]	likely benign\|uncertain significance	X	25013659	25013660	Human		name , trait , alternate_id
12894318	CV411307	duplication	NM_139058.3(ARX):c.303_326dup (p.Ala108_Ala115dup)	not provided [RCV000482315]	pathogenic	X	25013668	25013669	Human		name
13468349	CV472117	duplication	NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)	Developmental and epileptic encephalopathy, 1 [RCV000558205]	pathogenic	X	25013536	25013537	Human	1	name , alternate_id
13592788	CV508520	microsatellite	NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup)	Developmental and epileptic encephalopathy, 1 [RCV001316569]\|Inborn genetic diseases [RCV002528724]\|not provided [RCV001311829]	benign\|likely benign\|uncertain significance	X	25007238	25007239	Human		name , alternate_id
13622742	CV534701	deletion	NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del)	Developmental and epileptic encephalopathy, 1 [RCV000650179]	uncertain significance	X	25013231	25013293	Human	1	name , alternate_id
13622741	CV534706	deletion	NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV000650178]	uncertain significance	X	25013654	25013674	Human	1	name , alternate_id
13830690	CV580901	duplication	NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)	Developmental and epileptic encephalopathy, 1 [RCV001862086]\|Inborn genetic diseases [RCV002318283]\|Intellectual disability, X-linked, with or without seizures, ARX-related [RCV003987679]	pathogenic\|likely pathogenic	X	25013545	25013546	Human	3	name , trait , alternate_id
13830471	CV581077	deletion	NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV001253636]\|Developmental and epileptic encephalopathy, 1 [RCV001504893]\|Inborn genetic diseases [RCV002317589]\|not provided [RCV000722715]	likely benign\|uncertain significance	X	25013530	25013544	Human	2	name , alternate_id
25321379	CV806383	duplication	NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)	Developmental and epileptic encephalopathy, 1 [RCV001009556]\|Developmental and epileptic encephalopathy, 1 [RCV001227606]\|not provided [RCV001766823]	uncertain significance\|not provided	X	25013539	25013540	Human	1	name , alternate_id
26911780	CV822223	deletion	NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV001034298]	likely benign	X	25013537	25013557	Human	1	name , alternate_id
28908380	CV860837	deletion	NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)	Developmental and epileptic encephalopathy, 1 [RCV001230061]\|not provided [RCV001093393]	pathogenic\|uncertain significance	X	25004888	25004888	Human	1	name , alternate_id
38499671	CV959236	deletion	NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del)	Developmental and epileptic encephalopathy, 1 [RCV001244937]\|Inborn genetic diseases [RCV002436965]	likely benign\|uncertain significance	X	25013678	25013692	Human	2	name , alternate_id
13830462	CV580943	microsatellite	NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup)	Developmental and epileptic encephalopathy, 1 [RCV000818033]\|Inborn genetic diseases [RCV002317581]\|not specified [RCV003489842]	uncertain significance	X	25007238	25007239	Human		name , alternate_id
8643367	CV102350	microsatellite	NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup)	Developmental and epileptic encephalopathy, 1 [RCV000696832]\|not provided [RCV000082606]	likely pathogenic\|uncertain significance	X	25013536	25013537	Human		name , alternate_id
151720243	CV1430532	deletion	NM_139058.3(ARX):c.1299_1310del (p.Ala437_Ala440del)	Developmental and epileptic encephalopathy, 1 [RCV002036037]\|not provided [RCV005414634]	likely benign\|uncertain significance	X	25007249	25007260	Human	1	name , alternate_id
156168673	CV2056720	microsatellite	NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV002801886]	likely benign	X	25013537	25013542	Human		name , alternate_id
10408521	CV209020	deletion	NM_139058.2(ARX):c.429_452del24 (p.Ala148_Ala155del)	not specified [RCV000194661]	benign	X	25013543	25013566	Human		name
329846671	CV2534134	microsatellite	NM_139058.3(ARX):c.884TGC[4] (p.Leu297_His298insLeu)	not provided [RCV003228341]	uncertain significance	X	25013102	25013103	Human		name
21073415	CV792251	deletion	NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del)	Developmental and epileptic encephalopathy, 1 [RCV000990553]	pathogenic	X	25007131	25007145	Human	1	name
405044138	CV3103824	duplication	NM_139058.3(ARX):c.336_338dup (p.Ala115_Thr116insAla)	Developmental and epileptic encephalopathy, 1 [RCV003797542]	likely benign	X	25013656	25013657	Human	1	name , alternate_id
12900880	CV411303	microsatellite	NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del)	Developmental and epileptic encephalopathy, 1 [RCV001856842]\|not specified [RCV000483403]	likely benign\|uncertain significance	X	25007255	25007260	Human		name , alternate_id
11051297	CV225804	indel	NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs)	Developmental and epileptic encephalopathy, 1 [RCV000209847]	pathogenic	X	25012988	25012993	Human		name
13213260	CV430769	indel	NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs)	Hydranencephaly with abnormal genitalia [RCV000499805]	pathogenic	X	25004810	25004824	Human		name
10408572	CV209019	microsatellite	NM_139058.3(ARX):c.448GCCGCGGCC[1] (p.Ala153_Ala155del)	Developmental and epileptic encephalopathy, 1 [RCV003765211]\|not specified [RCV000195117]	likely benign	X	25013530	25013538	Human		name , alternate_id
14393394	CV609301	deletion	NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer)	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV000755691]\|Ventriculomegaly [RCV001526546]	pathogenic\|likely pathogenic	X	25007176	25007185	Human	4	name , trait
38468939	CV939546	microsatellite	NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup)	Developmental and epileptic encephalopathy, 1 [RCV001202324]	uncertain significance	X	25013529	25013530	Human		name , alternate_id
150427031	CV1189084	insertion	NM_139058.3(ARX):c.337_338insGCG (p.Ala112_Ala113insGly)	not provided [RCV001560374]	likely benign	X	25013657	25013658	Human		name
10408510	CV209025	insertion	NM_139058.2(ARX):c.333_334insGCG (p.Ala115_Thr116insAla)	not specified [RCV000194576]	benign	X	25013661	25013662	Human		name
8643361	CV102344	insertion	NM_139058.2(ARX):c.1320_1321insGCC (p.Ala440_Phe441insAla)	not provided [RCV000082600]	not provided	X	25007238	25007239	Human		name
156378414	CV2050683	microsatellite	NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)	Developmental and epileptic encephalopathy, 1 [RCV002814889]	uncertain significance	X	25013638	25013639	Human		name , alternate_id
156223323	CV1934380	insertion	NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)	Developmental and epileptic encephalopathy, 1 [RCV002644499]	uncertain significance	X	25013551	25013552	Human	1	name , alternate_id
155905571	CV2007328	duplication	NM_139058.3(ARX):c.625_636dup (p.Gly212_Ser213insGlyGlyProGly)	Developmental and epileptic encephalopathy, 1 [RCV002681371]	uncertain significance	X	25013358	25013359	Human	1	name , alternate_id
13216040	CV430773	insertion	NM_139058.3(ARX):c.1065_1066insCTTGTC (p.Val355_Phe356insLeuVal)	not specified [RCV000503239]	uncertain significance	X	25012929	25012930	Human		name
597838158	CV3866940	duplication	NM_139058.3(ARX):c.451_465dup (p.Ala155_Trp156insAlaAlaAlaAlaAla)	Developmental and epileptic encephalopathy, 1 [RCV005225932]	uncertain significance	X	25013529	25013530	Human	1	name , alternate_id
405127288	CV3112042	duplication	NM_139058.3(ARX):c.1299_1313dup (p.Ala440_Phe441insAlaAlaAlaAlaAla)	Developmental and epileptic encephalopathy, 1 [RCV003815515]	uncertain significance	X	25007245	25007246	Human	1	name , alternate_id
407425452	CV3411259	microsatellite	NM_139058.3(ARX):c.306GGC[16] (p.Ala115_Thr116insAlaAlaAlaAlaAlaAla)	not provided [RCV004588950]	uncertain significance	X	25013659	25013660	Human		name
596925458	CV3530482	indel	NM_139058.3(ARX):c.346_352delinsGCGGCAG (p.Thr116_Thr118delinsAlaAlaAla)	not provided [RCV004778067]	uncertain significance	X	25013643	25013649	Human		name
10407998	CV209023	duplication	NM_139058.2(ARX):c.315_335dup21 (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAla)	Lissencephaly 2, X-linked [RCV000193540]	pathogenic	X	25013660	25013680	Human		name
597867766	CV3869345	duplication	NM_139058.3(ARX):c.422_454dup (p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaAlaAlaAla)	Developmental and epileptic encephalopathy, 1 [RCV005215275]	pathogenic	X	25013540	25013541	Human	1	name , alternate_id
597901352	CV3876636	duplication	NM_139058.3(ARX):c.303_341dup (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Developmental and epileptic encephalopathy, 1 [RCV005220334]	uncertain significance	X	25013653	25013654	Human	1	name , alternate_id
151822780	CV1381756	duplication	NC_000023.10:g.(?_24544305)_(25025566_?)dup	Developmental and epileptic encephalopathy, 1 [RCV001967987]	uncertain significance				Human	1	alternate_id
156450939	CV1950053	deletion	NC_000023.10:g.(?_24483573)_(25033854_?)del	Developmental and epileptic encephalopathy, 1 [RCV003123114]	pathogenic				Human	1	alternate_id
156450940	CV1950054	duplication	NC_000023.10:g.(?_24512839)_(25033854_?)dup	Developmental and epileptic encephalopathy, 1 [RCV003123115]	uncertain significance				Human	1	alternate_id
405870434	CV3405184	duplication	NC_000023.10:g.(?_25022787)_(25033854_?)dup	Developmental and epileptic encephalopathy, 1 [RCV004583266]	uncertain significance				Human	1	alternate_id
13622748	CV534398	duplication	NC_000023.10:g.(?_25022767)_(25033874_?)dup	Developmental and epileptic encephalopathy, 1 [RCV000650193]	uncertain significance	X	25004650	25015757	Human	1	alternate_id
14714454	CV653385	duplication	NC_000023.10:g.(?_25028377)_(25033854_?)dup	Developmental and epileptic encephalopathy, 1 [RCV000796784]	uncertain significance	X	25010260	25015737	Human	1	alternate_id
14714458	CV653637	duplication	NC_000023.10:g.(?_25013922)_(25025556_?)dup	Developmental and epileptic encephalopathy, 1 [RCV000796785]	uncertain significance	X	24995805	25007439	Human	1	alternate_id
401941746	CV2839584	copy number gain	GRCh37/hg19 Xp22.11-21.3(chrX:24823572-25117528)x2	Intellectual disability, X-linked, with or without seizures, ARX-related [RCV003455855]	likely pathogenic				Human		trait

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