Pigq Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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751 records found for search term Pigq

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150452837	CV1255017	single nucleotide variant	NM_004204.5(PIGQ):c.*90T>C	not provided [RCV001668076]\|not specified [RCV004594488]	benign	16	583125	583125	Human		name
405261144	CV3186077	single nucleotide variant	NM_004204.5(PIGQ):c.*81C>T	not provided [RCV003885153]	uncertain significance	16	583116	583116	Human		name
405261404	CV3221461	single nucleotide variant	NM_004204.5(PIGQ):c.*95T>C	PIGQ-related disorder [RCV003966939]	likely benign	16	583130	583130	Human		name , trait , alternate_id
597655301	CV3731470	single nucleotide variant	NM_004204.5(PIGQ):c.*69C>T	not provided [RCV005001651]	uncertain significance	16	583104	583104	Human		name
598228044	CV3896085	single nucleotide variant	NM_004204.5(PIGQ):c.*65G>A	Developmental and epileptic encephalopathy [RCV005362335]	uncertain significance	16	583100	583100	Human	1	name
150474621	CV1217829	single nucleotide variant	NM_004204.5(PIGQ):c.*319G>A	not provided [RCV001615840]\|not specified [RCV004594387]	benign	16	583354	583354	Human		name
150514760	CV1228622	single nucleotide variant	NM_004204.5(PIGQ):c.*729G>A	not provided [RCV001638610]	benign	16	583764	583764	Human	5	name
150434336	CV1230763	single nucleotide variant	NM_004204.5(PIGQ):c.*671C>T	not provided [RCV001643709]	benign	16	583706	583706	Human		name
150432129	CV1236659	single nucleotide variant	NM_004204.5(PIGQ):c.*816T>C	not provided [RCV001642063]	benign	16	583851	583851	Human		name
150459054	CV1248606	single nucleotide variant	NM_004204.5(PIGQ):c.*808A>G	not provided [RCV001669216]	benign	16	583843	583843	Human		name
150457230	CV1269179	single nucleotide variant	NM_004204.5(PIGQ):c.*318T>C	not provided [RCV001693003]\|not specified [RCV004594517]	benign	16	583353	583353	Human		name
150474674	CV1272369	single nucleotide variant	NM_004204.5(PIGQ):c.*899C>T	not provided [RCV001695907]	benign	16	583934	583934	Human		name
152080526	CV1666975	single nucleotide variant	NM_004204.5(PIGQ):c.*515C>G	PIGQ-related disorder [RCV003933695]\|not provided [RCV002211320]	likely benign	16	583550	583550	Human	1	name , trait , alternate_id
156255583	CV2194512	single nucleotide variant	NM_004204.5(PIGQ):c.*508C>T	Inborn genetic diseases [RCV002668645]\|not provided [RCV005054436]	likely benign\|uncertain significance	16	583543	583543	Human	1	name
156375218	CV2213532	single nucleotide variant	NM_004204.5(PIGQ):c.*303C>T	Inborn genetic diseases [RCV002677566]	uncertain significance	16	583338	583338	Human	1	name
156292618	CV2233468	single nucleotide variant	NM_004204.5(PIGQ):c.*133C>T	Inborn genetic diseases [RCV002747886]	uncertain significance	16	583168	583168	Human	1	name
156293787	CV2233578	single nucleotide variant	NM_004204.5(PIGQ):c.*117C>G	Inborn genetic diseases [RCV002747972]\|not provided [RCV004572817]	likely benign\|uncertain significance	16	583152	583152	Human	1	name
156219438	CV2344896	single nucleotide variant	NM_004204.5(PIGQ):c.*379G>A	Inborn genetic diseases [RCV002986032]\|not provided [RCV003542465]	uncertain significance	16	583414	583414	Human	1	name
156008063	CV2365228	single nucleotide variant	NM_004204.5(PIGQ):c.*351C>T	Inborn genetic diseases [RCV002997556]	uncertain significance	16	583386	583386	Human	1	name
156402027	CV2367843	single nucleotide variant	NM_004204.5(PIGQ):c.*487C>A	Inborn genetic diseases [RCV002657240]\|not provided [RCV003389923]	uncertain significance	16	583522	583522	Human	1	name
401904608	CV2810710	single nucleotide variant	NM_004204.5(PIGQ):c.*104G>A	not provided [RCV003395119]	likely benign	16	583139	583139	Human		name
401904611	CV2810711	single nucleotide variant	NM_004204.5(PIGQ):c.*203C>T	PIGQ-related disorder [RCV003929065]\|not provided [RCV003395120]	likely benign	16	583238	583238	Human	1	name , trait , alternate_id
401904613	CV2810712	single nucleotide variant	NM_004204.5(PIGQ):c.*339C>T	not provided [RCV003395121]	likely benign\|uncertain significance	16	583374	583374	Human		name
401904615	CV2810713	single nucleotide variant	NM_004204.5(PIGQ):c.*340G>A	not provided [RCV003395122]	uncertain significance	16	583375	583375	Human		name
401930169	CV2810714	single nucleotide variant	NM_004204.5(PIGQ):c.*533C>T	not provided [RCV003390591]	likely benign	16	583568	583568	Human		name
408377771	CV3500828	single nucleotide variant	NM_004204.5(PIGQ):c.*364A>T	not provided [RCV004722478]	likely benign	16	583399	583399	Human		name
408379392	CV3501026	single nucleotide variant	NM_004204.5(PIGQ):c.*473C>T	not provided [RCV004722676]	likely benign	16	583508	583508	Human		name
408378798	CV3504184	single nucleotide variant	NM_004204.5(PIGQ):c.*383G>A	PIGQ-related disorder [RCV004728128]	likely benign	16	583418	583418	Human		name , trait , alternate_id
598209275	CV4007852	single nucleotide variant	NM_004204.5(PIGQ):c.*228C>T	Developmental and epileptic encephalopathy, 77 [RCV005400166]	uncertain significance	16	583263	583263	Human	1	name
598209280	CV4007853	single nucleotide variant	NM_004204.5(PIGQ):c.*430A>G	Developmental and epileptic encephalopathy, 77 [RCV005400167]	uncertain significance	16	583465	583465	Human	1	name
127267060	CV1104017	single nucleotide variant	NM_004204.5(PIGQ):c.821+7G>T	Epilepsy [RCV001440442]	likely benign	16	575977	575977	Human	2	name
151859695	CV1344028	single nucleotide variant	NM_004204.5(PIGQ):c.942+5G>A	Epilepsy [RCV002034212]	uncertain significance	16	576259	576259	Human	2	name
151817091	CV1385573	single nucleotide variant	NM_004204.5(PIGQ):c.690-3C>A	Epilepsy [RCV002013011]	uncertain significance	16	575836	575836	Human	2	name
151762313	CV1393556	single nucleotide variant	NM_004204.5(PIGQ):c.942+1G>C	Epilepsy [RCV001949293]	pathogenic	16	576255	576255	Human	2	name
8696228	CV150142	single nucleotide variant	NM_004204.5(PIGQ):c.690-2A>G	Developmental and epileptic encephalopathy, 77 [RCV000128637]	pathogenic\|uncertain significance	16	575837	575837	Human	1	name
156118002	CV1952493	single nucleotide variant	NM_004204.5(PIGQ):c.822-8C>A	Epilepsy [RCV002571749]	likely benign	16	576126	576126	Human	2	name
405045090	CV2884347	single nucleotide variant	NM_004204.5(PIGQ):c.689+8T>C	Epilepsy [RCV003530731]	likely benign	16	574771	574771	Human	2	name
596931129	CV3531462	single nucleotide variant	NM_004204.5(PIGQ):c.942+3G>C	not provided [RCV004781024]	uncertain significance	16	576257	576257	Human		name
597975381	CV3799104	single nucleotide variant	NM_004204.5(PIGQ):c.821+9C>T	Epilepsy [RCV005144500]	likely benign	16	575979	575979	Human	2	name
13471400	CV445590	single nucleotide variant	NM_004204.5(PIGQ):c.942+1G>A	Developmental and epileptic encephalopathy, 77 [RCV001290116]\|Epilepsy [RCV000537621]\|Inborn genetic diseases [RCV002527652]\|PIGQ-related disorder [RCV000787940]\|not provided [RCV000518843]	pathogenic\|likely pathogenic\|uncertain significance	16	576255	576255	Human	4	name , trait , alternate_id
13482712	CV466538	single nucleotide variant	NM_004204.5(PIGQ):c.690-3C>T	Epilepsy [RCV000529537]	uncertain significance	16	575836	575836	Human	2	name
13816312	CV570329	single nucleotide variant	NM_004204.5(PIGQ):c.821+3G>A	Epilepsy [RCV000692218]	uncertain significance	16	575973	575973	Human	2	name
14718455	CV653278	single nucleotide variant	NM_004204.5(PIGQ):c.943-3C>T	Epilepsy [RCV000812229]	uncertain significance	16	578376	578376	Human	2	name
15176090	CV731077	single nucleotide variant	NM_004204.5(PIGQ):c.690-5C>T	Epilepsy [RCV001394000]	likely benign	16	575834	575834	Human	2	name
15148812	CV731078	single nucleotide variant	NM_004204.5(PIGQ):c.690-4G>A	Epilepsy [RCV000879032]	likely benign	16	575835	575835	Human	2	name
15181712	CV731081	single nucleotide variant	NM_004204.5(PIGQ):c.943-5T>C	Epilepsy [RCV000885827]	likely benign	16	578374	578374	Human	2	name
127317421	CV1125461	single nucleotide variant	NM_004204.5(PIGQ):c.1224-9G>A	Epilepsy [RCV001465878]	likely benign	16	579060	579060	Human	2	name
127303228	CV1146384	deletion	NM_004204.5(PIGQ):c.1531+9del	Epilepsy [RCV001479200]	likely benign	16	580981	580981	Human	2	name
150409994	CV1175443	single nucleotide variant	NM_004204.5(PIGQ):c.942+92A>C	Developmental and epileptic encephalopathy, 77 [RCV001544399]\|not provided [RCV001647409]\|not specified [RCV004594348]	benign	16	576346	576346	Human	1	name
150409996	CV1175444	single nucleotide variant	NM_004204.5(PIGQ):c.943-77A>G	Developmental and epileptic encephalopathy, 77 [RCV001544400]\|not provided [RCV001658277]\|not specified [RCV004598024]	benign	16	578302	578302	Human	1	name
151820102	CV1390699	single nucleotide variant	NM_004204.5(PIGQ):c.943-10G>A	Epilepsy [RCV001992688]\|PIGQ-related disorder [RCV003923386]	likely benign\|uncertain significance	16	578369	578369	Human	3	name , trait , alternate_id
151815935	CV1432934	single nucleotide variant	NM_004204.5(PIGQ):c.1531+5G>A	Epilepsy [RCV001954282]	uncertain significance	16	580977	580977	Human	2	name
152027726	CV1529553	single nucleotide variant	NM_004204.5(PIGQ):c.943-14C>T	Epilepsy [RCV002185598]	likely benign	16	578365	578365	Human	2	name
152176014	CV1562160	single nucleotide variant	NM_004204.5(PIGQ):c.689+12G>A	Epilepsy [RCV002164154]	likely benign	16	574775	574775	Human	2	name
152092404	CV1571160	single nucleotide variant	NM_004204.5(PIGQ):c.689+16C>T	Epilepsy [RCV002150760]	likely benign	16	574779	574779	Human	2	name
152066966	CV1579061	single nucleotide variant	NM_004204.5(PIGQ):c.822-16C>T	Epilepsy [RCV002074581]	likely benign	16	576118	576118	Human	2	name
152031599	CV1629192	single nucleotide variant	NM_004204.5(PIGQ):c.689+11C>T	Epilepsy [RCV002106196]	likely benign	16	574774	574774	Human	2	name
152123912	CV1641202	single nucleotide variant	NM_004204.5(PIGQ):c.690-18C>A	Epilepsy [RCV002098542]	likely benign	16	575821	575821	Human	2	name
152144233	CV1651634	single nucleotide variant	NM_004204.5(PIGQ):c.1593+7C>T	Epilepsy [RCV002138575]	likely benign	16	582316	582316	Human	2	name
152160318	CV1651973	single nucleotide variant	NM_004204.5(PIGQ):c.1070-9C>T	Epilepsy [RCV002180819]	likely benign	16	578776	578776	Human	2	name
152150332	CV1662951	single nucleotide variant	NM_004204.5(PIGQ):c.1416+8G>A	Epilepsy [RCV002158090]	likely benign	16	580271	580271	Human	2	name
155956565	CV1876813	single nucleotide variant	NM_004204.5(PIGQ):c.689+14G>A	Epilepsy [RCV003074445]	likely benign	16	574777	574777	Human	2	name
155968768	CV1888780	single nucleotide variant	NM_004204.5(PIGQ):c.1336-4A>T	Epilepsy [RCV003075071]	likely benign	16	580179	580179	Human	2	name
156131662	CV2037491	single nucleotide variant	NM_004204.5(PIGQ):c.1594-8C>T	Epilepsy [RCV002800638]	likely benign	16	582875	582875	Human	2	name
156113722	CV2039117	single nucleotide variant	NM_004204.5(PIGQ):c.1223+3G>A	Epilepsy [RCV002785506]	uncertain significance	16	578941	578941	Human	2	name
155935896	CV2045759	single nucleotide variant	NM_004204.5(PIGQ):c.1594-7C>T	Epilepsy [RCV002751453]	likely benign	16	582876	582876	Human	2	name
155966872	CV2048508	single nucleotide variant	NM_004204.5(PIGQ):c.689+18G>A	Epilepsy [RCV002776535]	likely benign	16	574781	574781	Human	2	name
156035259	CV2059366	single nucleotide variant	NM_004204.5(PIGQ):c.821+11G>T	Epilepsy [RCV002796225]	likely benign	16	575981	575981	Human	2	name
156173434	CV2133697	single nucleotide variant	NM_004204.5(PIGQ):c.822-20G>A	Epilepsy [RCV003005464]	uncertain significance	16	576114	576114	Human	2	name
156305993	CV2167534	single nucleotide variant	NM_004204.5(PIGQ):c.1532-5T>C	Epilepsy [RCV003045780]	uncertain significance	16	582243	582243	Human	2	name
401904606	CV2810707	single nucleotide variant	NM_004204.5(PIGQ):c.821+58A>G	not provided [RCV003395117]	likely benign	16	576028	576028	Human		name
405041882	CV2855914	single nucleotide variant	NM_004204.5(PIGQ):c.943-15C>T	Epilepsy [RCV003530490]	likely benign	16	578364	578364	Human	2	name
405050311	CV2906536	single nucleotide variant	NM_004204.5(PIGQ):c.1531+1G>A	Epilepsy [RCV003531030]	likely pathogenic	16	580973	580973	Human	2	name
402515062	CV3000863	single nucleotide variant	NM_004204.5(PIGQ):c.690-12A>G	Epilepsy [RCV003646523]	likely benign	16	575827	575827	Human	2	name
402519479	CV3043144	single nucleotide variant	NM_004204.5(PIGQ):c.822-11C>T	Epilepsy [RCV003646856]	likely benign	16	576123	576123	Human	2	name
402520354	CV3048133	single nucleotide variant	NM_004204.5(PIGQ):c.1223+7G>T	Epilepsy [RCV003646932]	likely benign	16	578945	578945	Human	2	name
402521328	CV3049527	single nucleotide variant	NM_004204.5(PIGQ):c.690-20T>C	Epilepsy [RCV003646973]	likely benign	16	575819	575819	Human	2	name
402468871	CV3174302	single nucleotide variant	NM_004204.5(PIGQ):c.689+13G>A	Epilepsy [RCV003873585]	likely benign	16	574776	574776	Human	2	name
405871931	CV3398146	single nucleotide variant	NM_004204.5(PIGQ):c.821+74C>T	not provided [RCV004575147]	uncertain significance	16	576044	576044	Human		name
597870964	CV3768256	single nucleotide variant	NM_004204.5(PIGQ):c.1336-6C>T	Epilepsy [RCV005122635]	likely benign	16	580177	580177	Human	2	name
597923887	CV3777924	single nucleotide variant	NM_004204.5(PIGQ):c.942+14G>C	Epilepsy [RCV005130648]	likely benign	16	576268	576268	Human	2	name
597923417	CV3808510	single nucleotide variant	NM_004204.5(PIGQ):c.943-13T>C	Epilepsy [RCV005156024]	likely benign	16	578366	578366	Human	2	name
13805778	CV570315	single nucleotide variant	NM_004204.5(PIGQ):c.1223+6C>T	Epilepsy [RCV000700260]	uncertain significance	16	578944	578944	Human	2	name
14723850	CV652578	single nucleotide variant	NM_004204.5(PIGQ):c.1336-3C>T	Epilepsy [RCV000814526]	uncertain significance	16	580180	580180	Human	2	name
14702581	CV653043	single nucleotide variant	NM_004204.5(PIGQ):c.1531+3A>T	Epilepsy [RCV000807022]	uncertain significance	16	580975	580975	Human	2	name
15189212	CV745240	single nucleotide variant	NM_004204.5(PIGQ):c.1223+7G>A	Epilepsy [RCV000909585]	likely benign	16	578945	578945	Human	2	name
26887949	CV852123	single nucleotide variant	NM_004204.5(PIGQ):c.1417-3C>T	Epilepsy [RCV001056953]	uncertain significance	16	580855	580855	Human	2	name
38497614	CV960171	single nucleotide variant	NM_004204.5(PIGQ):c.1416+3G>A	Epilepsy [RCV001227197]	uncertain significance	16	580266	580266	Human	2	name
126750972	CV997032	single nucleotide variant	NM_004204.5(PIGQ):c.1593+1G>T	Epilepsy [RCV001297427]	uncertain significance	16	582310	582310	Human	2	name
127273698	CV1104069	single nucleotide variant	NM_004204.5(PIGQ):c.1416+10G>A	Epilepsy [RCV001431700]	likely benign	16	580273	580273	Human	2	name
127330965	CV1146368	single nucleotide variant	NM_004204.5(PIGQ):c.1224-10C>T	Epilepsy [RCV001488518]	likely benign	16	579059	579059	Human	2	name
127293502	CV1157769	deletion	NM_004204.5(PIGQ):c.1532-17del	Developmental and epileptic encephalopathy, 77 [RCV001544035]\|Epilepsy [RCV001511375]\|not provided [RCV001655742]\|not specified [RCV004594281]	benign	16	582231	582231	Human	3	name
127293506	CV1157770	single nucleotide variant	NM_004204.5(PIGQ):c.1532-15T>C	Developmental and epileptic encephalopathy, 77 [RCV001544036]\|Epilepsy [RCV001511376]\|not provided [RCV001673072]\|not specified [RCV004594282]	benign	16	582233	582233	Human	4	name
127293506	CV1157770	single nucleotide variant	NM_004204.5(PIGQ):c.1532-15T>C	Developmental and epileptic encephalopathy, 77 [RCV001544036]\|Epilepsy [RCV001511376]\|not provided [RCV001673072]\|not specified [RCV004594282]	benign	16	582233	582234	Human	4	name
150409989	CV1175442	single nucleotide variant	NM_004204.5(PIGQ):c.-9-1501A>G	Developmental and epileptic encephalopathy, 77 [RCV001544396]\|not provided [RCV004715503]\|not specified [RCV004594347]	benign	16	572565	572565	Human	6	name
150409989	CV1175442	single nucleotide variant	NM_004204.5(PIGQ):c.-9-1501A>G	Developmental and epileptic encephalopathy, 77 [RCV001544396]\|not provided [RCV004715503]\|not specified [RCV004594347]	benign	16	572565	572566	Human	6	name
150409999	CV1175445	single nucleotide variant	NM_004204.5(PIGQ):c.1224-63C>T	Developmental and epileptic encephalopathy, 77 [RCV001544401]\|not provided [RCV001615281]	benign	16	579006	579006	Human	1	name
150410001	CV1175446	single nucleotide variant	NM_004204.5(PIGQ):c.1336-94C>T	Developmental and epileptic encephalopathy, 77 [RCV001544402]\|not provided [RCV001694081]\|not specified [RCV004594349]	benign	16	580089	580089	Human	1	name
150410128	CV1175451	single nucleotide variant	NM_004204.5(PIGQ):c.1532-68G>C	Developmental and epileptic encephalopathy, 77 [RCV001544510]\|not provided [RCV001673183]\|not specified [RCV004594352]	benign	16	582180	582180	Human	1	name
150409414	CV1175452	single nucleotide variant	NM_004204.5(PIGQ):c.1532-50T>A	Developmental and epileptic encephalopathy, 77 [RCV001544033]\|not provided [RCV001647397]\|not specified [RCV004594345]	benign	16	582198	582198	Human	1	name
150409417	CV1175453	single nucleotide variant	NM_004204.5(PIGQ):c.1532-23T>C	Developmental and epileptic encephalopathy, 77 [RCV001544034]\|not provided [RCV001685487]\|not specified [RCV004594346]	benign	16	582225	582225	Human	1	name
150477423	CV1218624	single nucleotide variant	NM_004204.5(PIGQ):c.690-169C>T	not provided [RCV001616251]	benign	16	575670	575670	Human		name
150492113	CV1225414	single nucleotide variant	NM_004204.5(PIGQ):c.943-249A>G	not provided [RCV001618929]	benign	16	578130	578130	Human		name
150481171	CV1239729	single nucleotide variant	NM_004204.5(PIGQ):c.1532-24G>A	not provided [RCV001652892]	benign	16	582224	582224	Human		name
151810487	CV1375082	single nucleotide variant	NM_004204.5(PIGQ):c.1069+17C>T	Developmental and epileptic encephalopathy, 77 [RCV005232715]\|Epilepsy [RCV001933151]	likely benign\|uncertain significance	16	578522	578522	Human	3	name
151845883	CV1405596	single nucleotide variant	NM_004204.5(PIGQ):c.1335+17G>A	Epilepsy [RCV001903426]	likely benign	16	579197	579197	Human	2	name
151764586	CV1499578	single nucleotide variant	NM_004204.5(PIGQ):c.1224-10C>G	Epilepsy [RCV001863483]	likely benign	16	579059	579059	Human	2	name
152027694	CV1529539	single nucleotide variant	NM_004204.5(PIGQ):c.1335+16C>T	Epilepsy [RCV002185587]	likely benign	16	579196	579196	Human	2	name
152037417	CV1529593	single nucleotide variant	NM_004204.5(PIGQ):c.1070-14C>T	Epilepsy [RCV002187740]	likely benign	16	578771	578771	Human	2	name
152088654	CV1541389	single nucleotide variant	NM_004204.5(PIGQ):c.1223+11G>T	Epilepsy [RCV002171536]	likely benign	16	578949	578949	Human	2	name
152128612	CV1549071	single nucleotide variant	NM_004204.5(PIGQ):c.1336-12C>G	Epilepsy [RCV002099175]	likely benign	16	580171	580171	Human	2	name
152079913	CV1550047	single nucleotide variant	NM_004204.5(PIGQ):c.1224-13C>T	Epilepsy [RCV002192892]	likely benign	16	579056	579056	Human	2	name
152111654	CV1550365	single nucleotide variant	NM_004204.5(PIGQ):c.1070-13C>T	Epilepsy [RCV002153131]	likely benign	16	578772	578772	Human	2	name
152158553	CV1557167	single nucleotide variant	NM_004204.5(PIGQ):c.1070-15A>G	Epilepsy [RCV002203036]	likely benign	16	578770	578770	Human	2	name
152053801	CV1575096	single nucleotide variant	NM_004204.5(PIGQ):c.1336-19T>C	Epilepsy [RCV002109296]	likely benign	16	580164	580164	Human	2	name
152134249	CV1576370	single nucleotide variant	NM_004204.5(PIGQ):c.1531+14A>G	Epilepsy [RCV002119483]	likely benign	16	580986	580986	Human	2	name
152131004	CV1585526	single nucleotide variant	NM_004204.5(PIGQ):c.1531+11C>T	Epilepsy [RCV002155535]\|not provided [RCV004715612]	benign	16	580983	580983	Human	2	name
152146740	CV1600076	single nucleotide variant	NM_004204.5(PIGQ):c.1069+15G>A	Epilepsy [RCV002138908]	likely benign	16	578520	578520	Human	2	name
152069959	CV1600989	single nucleotide variant	NM_004204.5(PIGQ):c.1224-20G>C	Epilepsy [RCV002091451]	likely benign	16	579049	579049	Human	2	name
152106870	CV1605200	single nucleotide variant	NM_004204.5(PIGQ):c.1417-12C>T	Epilepsy [RCV002196264]	likely benign	16	580846	580846	Human	2	name
152041287	CV1617860	single nucleotide variant	NM_004204.5(PIGQ):c.1593+17C>G	Epilepsy [RCV002206378]	likely benign	16	582326	582326	Human	2	name
152031024	CV1632409	single nucleotide variant	NM_004204.5(PIGQ):c.1069+18G>A	Epilepsy [RCV002124461]	likely benign	16	578523	578523	Human	2	name
152131042	CV1635301	single nucleotide variant	NM_004204.5(PIGQ):c.1594-20C>T	Epilepsy [RCV002099489]	likely benign	16	582863	582863	Human	2	name
152028467	CV1655251	single nucleotide variant	NM_004204.5(PIGQ):c.1070-11C>A	Epilepsy [RCV002105244]	likely benign	16	578774	578774	Human	2	name
152058556	CV1656758	single nucleotide variant	NM_004204.5(PIGQ):c.1594-19G>A	Epilepsy [RCV002109840]	likely benign	16	582864	582864	Human	2	name
152120731	CV1657525	single nucleotide variant	NM_004204.5(PIGQ):c.1336-11C>G	Epilepsy [RCV002216735]\|not provided [RCV004715591]	benign	16	580172	580172	Human	2	name
156218099	CV1903493	single nucleotide variant	NM_004204.5(PIGQ):c.1593+12T>G	Epilepsy [RCV003084881]	likely benign	16	582321	582321	Human	2	name
156288330	CV1907578	single nucleotide variant	NM_004204.5(PIGQ):c.1224-16G>A	Epilepsy [RCV003087376]	likely benign	16	579053	579053	Human	2	name
156306487	CV1931412	single nucleotide variant	NM_004204.5(PIGQ):c.1224-20G>A	Epilepsy [RCV002647916]	likely benign	16	579049	579049	Human	2	name
156022691	CV2079126	single nucleotide variant	NM_004204.5(PIGQ):c.1069+13C>G	Epilepsy [RCV002885032]	likely benign	16	578518	578518	Human	2	name
156184362	CV2152036	single nucleotide variant	NM_004204.5(PIGQ):c.1594-13C>T	Epilepsy [RCV003005807]	likely benign	16	582870	582870	Human	2	name
405040773	CV2854642	single nucleotide variant	NM_004204.5(PIGQ):c.1335+12G>A	Epilepsy [RCV003530398]	likely benign	16	579192	579192	Human	2	name
405041264	CV2865321	single nucleotide variant	NM_004204.5(PIGQ):c.1417-12C>A	Epilepsy [RCV003530438]	likely benign	16	580846	580846	Human	2	name
405051316	CV2913580	single nucleotide variant	NM_004204.5(PIGQ):c.1335+18T>G	Epilepsy [RCV003531210]	likely benign	16	579198	579198	Human	2	name
405051854	CV2920524	single nucleotide variant	NM_004204.5(PIGQ):c.1593+14T>A	Epilepsy [RCV003531249]	likely benign	16	582323	582323	Human	2	name
402515685	CV3009299	single nucleotide variant	NM_004204.5(PIGQ):c.1069+16G>T	Epilepsy [RCV003646577]	likely benign	16	578521	578521	Human	2	name
402518596	CV3035076	deletion	NM_004204.5(PIGQ):c.1069+22del	Epilepsy [RCV003646785]	benign	16	578523	578523	Human	2	name
402519673	CV3044137	single nucleotide variant	NM_004204.5(PIGQ):c.1069+16G>C	Epilepsy [RCV003646896]	likely benign	16	578521	578521	Human	2	name
402519797	CV3050984	single nucleotide variant	NM_004204.5(PIGQ):c.1531+12G>A	Epilepsy [RCV003646907]	likely benign	16	580984	580984	Human	2	name
402520585	CV3179466	single nucleotide variant	NM_004204.5(PIGQ):c.1336-20G>A	Epilepsy [RCV003879718]	likely benign	16	580163	580163	Human	2	name
597890637	CV3749311	single nucleotide variant	NM_004204.5(PIGQ):c.1531+20C>T	Epilepsy [RCV005071095]	likely benign	16	580992	580992	Human	2	name
597871883	CV3768416	single nucleotide variant	NM_004204.5(PIGQ):c.1531+18G>T	Epilepsy [RCV005122795]	likely benign	16	580990	580990	Human	2	name
597968743	CV3821233	single nucleotide variant	NM_004204.5(PIGQ):c.1070-13C>G	Epilepsy [RCV005165875]	likely benign	16	578772	578772	Human	2	name
597931697	CV3827139	single nucleotide variant	NM_004204.5(PIGQ):c.1335+10A>G	Epilepsy [RCV005157152]	likely benign	16	579190	579190	Human	2	name
597942937	CV3847370	single nucleotide variant	NM_004204.5(PIGQ):c.1532-17G>A	Epilepsy [RCV005188289]	likely benign	16	582231	582231	Human	2	name
597909164	CV3853839	single nucleotide variant	NM_004204.5(PIGQ):c.1532-12C>T	Epilepsy [RCV005203323]	likely benign	16	582236	582236	Human	2	name
150331459	CV1169681	single nucleotide variant	NM_004204.5(PIGQ):c.1594-147T>C	not provided [RCV001536484]	benign	16	582736	582736	Human		name
150410003	CV1175447	single nucleotide variant	NM_004204.5(PIGQ):c.1416+104C>T	Developmental and epileptic encephalopathy, 77 [RCV001544403]\|not provided [RCV001615282]\|not specified [RCV004594350]	benign	16	580367	580367	Human	1	name
150410006	CV1175448	single nucleotide variant	NM_004204.5(PIGQ):c.1416+142T>G	Developmental and epileptic encephalopathy, 77 [RCV001544404]\|not provided [RCV001647410]	benign	16	580405	580405	Human	1	name
150410010	CV1175449	single nucleotide variant	NM_004204.5(PIGQ):c.1532-133G>A	Developmental and epileptic encephalopathy, 77 [RCV001544406]\|not provided [RCV001685497]	benign	16	582115	582115	Human	1	name
150410011	CV1175450	single nucleotide variant	NM_004204.5(PIGQ):c.1532-110C>T	Developmental and epileptic encephalopathy, 77 [RCV001544407]\|not provided [RCV001698679]\|not specified [RCV004594351]	benign	16	582138	582138	Human	1	name
150510817	CV1210585	single nucleotide variant	NM_004204.5(PIGQ):c.1532-175C>T	not provided [RCV001597764]	benign	16	582073	582073	Human		name
150507062	CV1211080	single nucleotide variant	NM_004204.5(PIGQ):c.1532-197T>C	not provided [RCV001596198]	benign	16	582051	582051	Human		name
150503530	CV1212501	single nucleotide variant	NM_004204.5(PIGQ):c.1336-158C>G	not provided [RCV001595376]	benign	16	580025	580025	Human		name
150505101	CV1213446	single nucleotide variant	NM_004204.5(PIGQ):c.1417-148A>G	not provided [RCV001595702]	benign	16	580710	580710	Human		name
150441003	CV1246669	single nucleotide variant	NM_004204.5(PIGQ):c.1532-237C>T	not provided [RCV001666322]	benign	16	582011	582011	Human		name
150484072	CV1247062	single nucleotide variant	NM_004204.5(PIGQ):c.1594-155T>C	not provided [RCV001673558]	benign	16	582728	582728	Human		name
150459359	CV1248657	single nucleotide variant	NM_004204.5(PIGQ):c.1335+265C>T	not provided [RCV001669267]	benign	16	579445	579445	Human		name
150497122	CV1256653	single nucleotide variant	NM_004204.5(PIGQ):c.1335+267A>G	not provided [RCV001676145]	benign	16	579447	579447	Human		name
150446459	CV1261367	single nucleotide variant	NM_004204.5(PIGQ):c.1335+278A>G	not provided [RCV001680041]	benign	16	579458	579458	Human		name
150442295	CV1266206	single nucleotide variant	NM_004204.5(PIGQ):c.1594-184C>G	not provided [RCV001690641]	benign	16	582699	582699	Human		name
150448878	CV1270522	single nucleotide variant	NM_004204.5(PIGQ):c.1417-193G>A	not provided [RCV001691660]	benign	16	580665	580665	Human	3	name
150462577	CV1276100	single nucleotide variant	NM_004204.5(PIGQ):c.1594-116A>G	not provided [RCV001710045]\|not specified [RCV004594538]	benign	16	582767	582767	Human		name
598128070	CV3883088	microsatellite	NM_004204.5(PIGQ):c.*528GGGCCC[3]	Developmental and epileptic encephalopathy, 77 [RCV005234621]	uncertain significance	16	583561	583562	Human		name
151726012	CV1395275	deletion	NM_004204.5(PIGQ):c.1327_1335+2del	Epilepsy [RCV001966595]	likely pathogenic	16	579172	579182	Human	2	name
151744905	CV1473329	single nucleotide variant	NM_004204.5(PIGQ):c.12G>A (p.Lys4=)	Epilepsy [RCV001912308]	likely benign\|uncertain significance	16	574086	574086	Human	2	name
152138452	CV1570903	single nucleotide variant	NM_004204.5(PIGQ):c.21C>T (p.Phe7=)	Epilepsy [RCV002120030]	likely benign	16	574095	574095	Human	2	name
13499823	CV466761	single nucleotide variant	NM_004204.5(PIGQ):c.27G>A (p.Thr9=)	Epilepsy [RCV000540049]\|not provided [RCV004716520]	benign	16	574101	574101	Human	2	name
127271815	CV1104014	single nucleotide variant	NM_004204.5(PIGQ):c.33C>T (p.Cys11=)	Epilepsy [RCV001431109]	likely benign	16	574107	574107	Human	2	name
127328681	CV1146326	single nucleotide variant	NM_004204.5(PIGQ):c.64C>A (p.Arg22=)	Epilepsy [RCV001486906]	likely benign	16	574138	574138	Human	2	name
151726087	CV1337692	single nucleotide variant	NM_004204.5(PIGQ):c.42G>A (p.Thr14=)	Epilepsy [RCV001945537]	likely benign\|uncertain significance	16	574116	574116	Human	2	name
151869532	CV1443963	single nucleotide variant	NM_004204.5(PIGQ):c.90C>T (p.Ala30=)	Epilepsy [RCV001925020]	likely benign	16	574164	574164	Human	2	name
152093476	CV1584836	deletion	NM_004204.5(PIGQ):c.943-14_943-13del	Epilepsy [RCV002114392]	likely benign	16	578365	578366	Human	2	name
156121934	CV1892610	deletion	NM_004204.5(PIGQ):c.690-17_690-13del	Epilepsy [RCV003081478]	likely benign	16	575818	575822	Human	2	name
156376466	CV1896050	single nucleotide variant	NM_004204.5(PIGQ):c.1A>C (p.Met1Leu)	Epilepsy [RCV003092915]	uncertain significance	16	574075	574075	Human	2	name
156004256	CV2057646	single nucleotide variant	NM_004204.5(PIGQ):c.90C>G (p.Ala30=)	Epilepsy [RCV002819800]	likely benign	16	574164	574164	Human	2	name
405044265	CV2879554	single nucleotide variant	NM_004204.5(PIGQ):c.48C>T (p.Ser16=)	Epilepsy [RCV003530670]	likely benign	16	574122	574122	Human	2	name
405048697	CV2906202	single nucleotide variant	NM_004204.5(PIGQ):c.39G>A (p.Ser13=)	Epilepsy [RCV003531014]	likely benign	16	574113	574113	Human	2	name
405050773	CV2915568	single nucleotide variant	NM_004204.5(PIGQ):c.60G>A (p.Val20=)	Epilepsy [RCV003531168]	likely benign	16	574134	574134	Human	2	name
13468071	CV466517	single nucleotide variant	NM_004204.5(PIGQ):c.75G>A (p.Pro25=)	Epilepsy [RCV000544297]\|PIGQ-related disorder [RCV003925581]\|not provided [RCV004716521]	benign	16	574149	574149	Human	3	name , trait , alternate_id
126919904	CV1049710	single nucleotide variant	NM_004204.5(PIGQ):c.19T>G (p.Phe7Val)	Epilepsy [RCV001362562]\|Inborn genetic diseases [RCV004036842]	uncertain significance	16	574093	574093	Human	3	name
126921730	CV1049711	single nucleotide variant	NM_004204.5(PIGQ):c.23C>A (p.Pro8His)	Epilepsy [RCV001363839]	uncertain significance	16	574097	574097	Human	2	name
127268623	CV1104015	single nucleotide variant	NM_004204.5(PIGQ):c.129C>T (p.Ile43=)	Epilepsy [RCV001440837]	likely benign	16	574203	574203	Human	2	name
127326969	CV1146327	single nucleotide variant	NM_004204.5(PIGQ):c.102G>A (p.Ala34=)	Epilepsy [RCV001486187]	likely benign	16	574176	574176	Human	2	name
127334602	CV1146328	single nucleotide variant	NM_004204.5(PIGQ):c.216G>A (p.Glu72=)	Epilepsy [RCV001490949]\|PIGQ-related disorder [RCV003980424]	likely benign	16	574290	574290	Human	3	name , trait , alternate_id
151797475	CV1376490	single nucleotide variant	NM_004204.5(PIGQ):c.12G>T (p.Lys4Asn)	Epilepsy [RCV001931998]	uncertain significance	16	574086	574086	Human	2	name
151886191	CV1414732	single nucleotide variant	NM_004204.5(PIGQ):c.177C>T (p.Gly59=)	Epilepsy [RCV001887511]	likely benign\|uncertain significance	16	574251	574251	Human	2	name
152156826	CV1541676	single nucleotide variant	NM_004204.5(PIGQ):c.219C>G (p.Pro73=)	Epilepsy [RCV002103064]	likely benign	16	574293	574293	Human	2	name
152111476	CV1634799	single nucleotide variant	NM_004204.5(PIGQ):c.249C>T (p.Ser83=)	Epilepsy [RCV002096910]	likely benign	16	574323	574323	Human	2	name
155937790	CV1917210	single nucleotide variant	NM_004204.5(PIGQ):c.241C>T (p.Leu81=)	Epilepsy [RCV002615430]	likely benign	16	574315	574315	Human	2	name
156392185	CV1986379	single nucleotide variant	NM_004204.5(PIGQ):c.234C>T (p.Gly78=)	Epilepsy [RCV002604773]	likely benign	16	574308	574308	Human	2	name
156057369	CV2008057	single nucleotide variant	NM_004204.5(PIGQ):c.156G>A (p.Val52=)	Epilepsy [RCV002705266]	uncertain significance	16	574230	574230	Human	2	name
156225730	CV2121794	single nucleotide variant	NM_004204.5(PIGQ):c.210G>A (p.Arg70=)	Epilepsy [RCV002958317]	likely benign	16	574284	574284	Human	2	name
405046775	CV2887051	single nucleotide variant	NM_004204.5(PIGQ):c.195C>A (p.Thr65=)	Epilepsy [RCV003530866]	likely benign	16	574269	574269	Human	2	name
402510990	CV2953002	single nucleotide variant	NM_004204.5(PIGQ):c.159G>A (p.Arg53=)	Epilepsy [RCV003646163]	likely benign	16	574233	574233	Human	2	name
402511814	CV2974630	single nucleotide variant	NM_004204.5(PIGQ):c.105C>T (p.Val35=)	Epilepsy [RCV003646213]	likely benign	16	574179	574179	Human	2	name
402520648	CV3060130	single nucleotide variant	NM_004204.5(PIGQ):c.286C>T (p.Leu96=)	Epilepsy [RCV003646981]	likely benign	16	574360	574360	Human	2	name
597947203	CV3758946	single nucleotide variant	NM_004204.5(PIGQ):c.102G>T (p.Ala34=)	Epilepsy [RCV005078742]	likely benign	16	574176	574176	Human	2	name
597967605	CV3824282	single nucleotide variant	NM_004204.5(PIGQ):c.280C>T (p.Leu94=)	Epilepsy [RCV005165505]	likely benign	16	574354	574354	Human	2	name
13478050	CV465786	single nucleotide variant	NM_004204.5(PIGQ):c.225G>A (p.Glu75=)	Epilepsy [RCV000549889]	likely benign	16	574299	574299	Human	2	name
13492677	CV466764	single nucleotide variant	NM_004204.5(PIGQ):c.165C>T (p.Ala55=)	Epilepsy [RCV000535136]	likely benign	16	574239	574239	Human	2	name
13612701	CV530613	single nucleotide variant	NM_004204.5(PIGQ):c.183C>T (p.Ala61=)	Epilepsy [RCV000630789]	likely benign	16	574257	574257	Human	2	name
15180733	CV740280	single nucleotide variant	NM_004204.5(PIGQ):c.219C>T (p.Pro73=)	Epilepsy [RCV000907423]	likely benign	16	574293	574293	Human	2	name
15130195	CV770981	single nucleotide variant	NM_004204.5(PIGQ):c.120C>T (p.Phe40=)	Epilepsy [RCV001416237]	likely benign	16	574194	574194	Human	2	name
15106180	CV770982	single nucleotide variant	NM_004204.5(PIGQ):c.231G>A (p.Leu77=)	Epilepsy [RCV001444472]	likely benign	16	574305	574305	Human	2	name
127241507	CV1082216	single nucleotide variant	NM_004204.5(PIGQ):c.741C>T (p.Cys247=)	Epilepsy [RCV001393165]	likely benign	16	575890	575890	Human	2	name
127259285	CV1082217	single nucleotide variant	NM_004204.5(PIGQ):c.894G>A (p.Gly298=)	Epilepsy [RCV001401899]	likely benign	16	576206	576206	Human	2	name
127233599	CV1082255	single nucleotide variant	NM_004204.5(PIGQ):c.945C>T (p.His315=)	Epilepsy [RCV001413958]	likely benign	16	578381	578381	Human	2	name
127259444	CV1082256	single nucleotide variant	NM_004204.5(PIGQ):c.969G>A (p.Leu323=)	Epilepsy [RCV001419801]	likely benign	16	578405	578405	Human	2	name
127244196	CV1104016	single nucleotide variant	NM_004204.5(PIGQ):c.663G>A (p.Ser221=)	Epilepsy [RCV001434974]	likely benign	16	574737	574737	Human	2	name
127234604	CV1104047	single nucleotide variant	NM_004204.5(PIGQ):c.951C>T (p.Ala317=)	Epilepsy [RCV001422090]\|not provided [RCV003394043]	likely benign	16	578387	578387	Human	2	name
127315855	CV1125416	single nucleotide variant	NM_004204.5(PIGQ):c.402C>G (p.Arg134=)	Epilepsy [RCV001465341]	likely benign	16	574476	574476	Human	2	name
127291702	CV1125417	single nucleotide variant	NM_004204.5(PIGQ):c.603C>T (p.Leu201=)	Epilepsy [RCV001476152]	likely benign	16	574677	574677	Human	2	name
127306453	CV1125418	single nucleotide variant	NM_004204.5(PIGQ):c.642G>T (p.Leu214=)	Epilepsy [RCV001455525]	likely benign	16	574716	574716	Human	2	name
127336052	CV1125419	single nucleotide variant	NM_004204.5(PIGQ):c.708C>T (p.Pro236=)	Epilepsy [RCV001474734]	likely benign	16	575857	575857	Human	2	name
127291864	CV1125420	single nucleotide variant	NM_004204.5(PIGQ):c.855C>T (p.Asp285=)	Epilepsy [RCV001451619]	likely benign	16	576167	576167	Human	2	name
127293547	CV1125453	single nucleotide variant	NM_004204.5(PIGQ):c.951C>G (p.Ala317=)	Epilepsy [RCV001452026]	likely benign	16	578387	578387	Human	2	name
127298564	CV1146329	single nucleotide variant	NM_004204.5(PIGQ):c.480G>T (p.Gly160=)	Epilepsy [RCV001498102]	likely benign	16	574554	574554	Human	2	name
127332761	CV1146330	single nucleotide variant	NM_004204.5(PIGQ):c.492C>T (p.Ala164=)	Epilepsy [RCV001489729]	likely benign	16	574566	574566	Human	2	name
127315331	CV1146331	single nucleotide variant	NM_004204.5(PIGQ):c.732C>T (p.Leu244=)	Epilepsy [RCV001502679]	likely benign	16	575881	575881	Human	2	name
127314408	CV1146332	single nucleotide variant	NM_004204.5(PIGQ):c.804C>T (p.Asn268=)	Epilepsy [RCV001502481]	likely benign	16	575953	575953	Human	2	name
127336145	CV1146358	single nucleotide variant	NM_004204.5(PIGQ):c.979C>T (p.Leu327=)	Epilepsy [RCV001491983]	likely benign	16	578415	578415	Human	2	name
127293096	CV1146359	single nucleotide variant	NM_004204.5(PIGQ):c.993C>T (p.Pro331=)	Epilepsy [RCV001496657]\|PIGQ-related disorder [RCV003900713]	likely benign	16	578429	578429	Human	3	name , trait , alternate_id
127293488	CV1157757	single nucleotide variant	NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala)	Developmental and epileptic encephalopathy, 77 [RCV001544397]\|Epilepsy [RCV001511372]\|not provided [RCV001685377]\|not specified [RCV004594279]	benign	16	574114	574114	Human	3	name
127293492	CV1157758	single nucleotide variant	NM_004204.5(PIGQ):c.639C>T (p.Cys213=)	Developmental and epileptic encephalopathy, 77 [RCV001544398]\|Epilepsy [RCV001511373]\|not provided [RCV001685378]\|not specified [RCV004594280]	benign	16	574713	574713	Human	3	name
150543299	CV1315173	deletion	NM_004204.5(PIGQ):c.241del (p.Leu81fs)	Developmental and epileptic encephalopathy, 77 [RCV001782630]\|Epilepsy [RCV003107851]	pathogenic\|likely pathogenic	16	574314	574314	Human	3	name
151724763	CV1350947	single nucleotide variant	NM_004204.5(PIGQ):c.28T>G (p.Cys10Gly)	Epilepsy [RCV001891581]	uncertain significance	16	574102	574102	Human	2	name
151876665	CV1360288	single nucleotide variant	NM_004204.5(PIGQ):c.76G>C (p.Glu26Gln)	Epilepsy [RCV001907149]	uncertain significance	16	574150	574150	Human	2	name
151847240	CV1439638	single nucleotide variant	NM_004204.5(PIGQ):c.64C>T (p.Arg22Trp)	Epilepsy [RCV002016095]\|Inborn genetic diseases [RCV004956133]	uncertain significance	16	574138	574138	Human	3	name
151795757	CV1476248	single nucleotide variant	NM_004204.5(PIGQ):c.38C>T (p.Ser13Leu)	Epilepsy [RCV001931846]	uncertain significance	16	574112	574112	Human	2	name
152174289	CV1536261	single nucleotide variant	NM_004204.5(PIGQ):c.684C>T (p.Ala228=)	Epilepsy [RCV002144387]	likely benign	16	574758	574758	Human	2	name
152125634	CV1554096	single nucleotide variant	NM_004204.5(PIGQ):c.525C>T (p.Leu175=)	Epilepsy [RCV002098783]	likely benign	16	574599	574599	Human	2	name
152093810	CV1561260	single nucleotide variant	NM_004204.5(PIGQ):c.555C>T (p.Pro185=)	Epilepsy [RCV002094559]	likely benign	16	574629	574629	Human	2	name
152069250	CV1570868	single nucleotide variant	NM_004204.5(PIGQ):c.738G>A (p.Thr246=)	Epilepsy [RCV002129386]	likely benign	16	575887	575887	Human	2	name
152095928	CV1597412	single nucleotide variant	NM_004204.5(PIGQ):c.606G>A (p.Ala202=)	Epilepsy [RCV002114698]	likely benign	16	574680	574680	Human	2	name
152086015	CV1599378	single nucleotide variant	NM_004204.5(PIGQ):c.309G>A (p.Thr103=)	Epilepsy [RCV002093493]	likely benign	16	574383	574383	Human	2	name
152094549	CV1603591	single nucleotide variant	NM_004204.5(PIGQ):c.862C>T (p.Leu288=)	Epilepsy [RCV002213186]	likely benign	16	576174	576174	Human	2	name
152147332	CV1608179	single nucleotide variant	NM_004204.5(PIGQ):c.640C>T (p.Leu214=)	Epilepsy [RCV002178923]	likely benign	16	574714	574714	Human	2	name
152040255	CV1608927	single nucleotide variant	NM_004204.5(PIGQ):c.891C>T (p.His297=)	Epilepsy [RCV002107634]	likely benign	16	576203	576203	Human	2	name
152043033	CV1621791	single nucleotide variant	NM_004204.5(PIGQ):c.354C>T (p.Pro118=)	Epilepsy [RCV002107997]	likely benign	16	574428	574428	Human	2	name
152085149	CV1623027	single nucleotide variant	NM_004204.5(PIGQ):c.444C>T (p.Pro148=)	Epilepsy [RCV002113281]	likely benign	16	574518	574518	Human	2	name
152141310	CV1629189	single nucleotide variant	NM_004204.5(PIGQ):c.612G>A (p.Leu204=)	Epilepsy [RCV002120413]	likely benign	16	574686	574686	Human	2	name
152135519	CV1642333	single nucleotide variant	NM_004204.5(PIGQ):c.658C>T (p.Leu220=)	Epilepsy [RCV002119650]	likely benign	16	574732	574732	Human	2	name
152100908	CV1645687	single nucleotide variant	NM_004204.5(PIGQ):c.408G>A (p.Val136=)	Epilepsy [RCV002173086]	likely benign	16	574482	574482	Human	2	name
152049439	CV1657037	single nucleotide variant	NM_004204.5(PIGQ):c.957G>A (p.Glu319=)	Epilepsy [RCV002189218]	likely benign	16	578393	578393	Human	2	name
156290463	CV1881788	single nucleotide variant	NM_004204.5(PIGQ):c.303C>T (p.Gly101=)	Epilepsy [RCV003061435]	likely benign	16	574377	574377	Human	2	name
156135736	CV1901898	single nucleotide variant	NM_004204.5(PIGQ):c.627G>A (p.Ser209=)	Epilepsy [RCV003082008]	likely benign	16	574701	574701	Human	2	name
156258879	CV1906406	single nucleotide variant	NM_004204.5(PIGQ):c.642G>A (p.Leu214=)	Epilepsy [RCV003086367]	likely benign	16	574716	574716	Human	2	name
156312614	CV1913708	single nucleotide variant	NM_004204.5(PIGQ):c.435C>T (p.Thr145=)	Epilepsy [RCV002599749]	likely benign	16	574509	574509	Human	2	name
156373131	CV1921039	single nucleotide variant	NM_004204.5(PIGQ):c.882C>T (p.Ser294=)	Epilepsy [RCV002603350]	likely benign	16	576194	576194	Human	2	name
156180047	CV1924429	single nucleotide variant	NM_004204.5(PIGQ):c.942C>T (p.Asp314=)	Epilepsy [RCV002625010]	uncertain significance	16	576254	576254	Human	2	name
156153738	CV1967551	single nucleotide variant	NM_004204.5(PIGQ):c.751C>A (p.Arg251=)	Epilepsy [RCV002594229]	likely benign	16	575900	575900	Human	2	name
156232297	CV2024506	single nucleotide variant	NM_004204.5(PIGQ):c.86G>A (p.Ser29Asn)	Epilepsy [RCV002745352]	uncertain significance	16	574160	574160	Human	2	name
155979945	CV2024977	single nucleotide variant	NM_004204.5(PIGQ):c.606G>T (p.Ala202=)	Epilepsy [RCV002755279]	likely benign	16	574680	574680	Human	2	name
156225039	CV2037890	single nucleotide variant	NM_004204.5(PIGQ):c.849G>A (p.Leu283=)	Epilepsy [RCV002790780]	likely benign	16	576161	576161	Human	2	name
156232827	CV2048815	single nucleotide variant	NM_004204.5(PIGQ):c.68G>A (p.Trp23Ter)	Epilepsy [RCV002791062]	pathogenic	16	574142	574142	Human	2	name
155998447	CV2057285	single nucleotide variant	NM_004204.5(PIGQ):c.924C>T (p.Ala308=)	Epilepsy [RCV002819534]	likely benign	16	576236	576236	Human	2	name
156204416	CV2063062	single nucleotide variant	NM_004204.5(PIGQ):c.852G>A (p.Leu284=)	Epilepsy [RCV002829059]	uncertain significance	16	576164	576164	Human	2	name
156206410	CV2092740	single nucleotide variant	NM_004204.5(PIGQ):c.585C>T (p.Gly195=)	Epilepsy [RCV002917984]	likely benign	16	574659	574659	Human	2	name
156037029	CV2097787	single nucleotide variant	NM_004204.5(PIGQ):c.610C>T (p.Leu204=)	Epilepsy [RCV002885650]	likely benign	16	574684	574684	Human	2	name
156336085	CV2099542	single nucleotide variant	NM_004204.5(PIGQ):c.921C>T (p.Asp307=)	Epilepsy [RCV002900209]	likely benign	16	576233	576233	Human	2	name
156053637	CV2101855	single nucleotide variant	NM_004204.5(PIGQ):c.474C>T (p.Ser158=)	Epilepsy [RCV002886246]	likely benign	16	574548	574548	Human	2	name
156389592	CV2122328	duplication	NM_004204.5(PIGQ):c.254dup (p.Ala86fs)	Epilepsy [RCV002943760]	pathogenic	16	574325	574326	Human	2	name
156286013	CV2134147	single nucleotide variant	NM_004204.5(PIGQ):c.687C>T (p.Cys229=)	Epilepsy [RCV003009772]	likely benign	16	574761	574761	Human	2	name
405044353	CV2876307	single nucleotide variant	NM_004204.5(PIGQ):c.753G>C (p.Arg251=)	Epilepsy [RCV003530677]	likely benign	16	575902	575902	Human	2	name
405044361	CV2876310	single nucleotide variant	NM_004204.5(PIGQ):c.321C>T (p.Cys107=)	Epilepsy [RCV003530678]	likely benign	16	574395	574395	Human	2	name
405053335	CV2930946	single nucleotide variant	NM_004204.5(PIGQ):c.396C>T (p.Asp132=)	Epilepsy [RCV003531359]	likely benign	16	574470	574470	Human	2	name
402511029	CV2963266	single nucleotide variant	NM_004204.5(PIGQ):c.780C>T (p.Ile260=)	Epilepsy [RCV003646167]	likely benign	16	575929	575929	Human	2	name
402512330	CV2973461	single nucleotide variant	NM_004204.5(PIGQ):c.774G>T (p.Thr258=)	Epilepsy [RCV003646282]	likely benign	16	575923	575923	Human	2	name
402513578	CV2982362	single nucleotide variant	NM_004204.5(PIGQ):c.444C>G (p.Pro148=)	Epilepsy [RCV003646367]	likely benign	16	574518	574518	Human	2	name
402513708	CV2989339	single nucleotide variant	NM_004204.5(PIGQ):c.967C>T (p.Leu323=)	Epilepsy [RCV003646378]	likely benign	16	578403	578403	Human	2	name
402522221	CV3070175	single nucleotide variant	NM_004204.5(PIGQ):c.774G>A (p.Thr258=)	Epilepsy [RCV003647112]\|not provided [RCV005426203]	likely benign	16	575923	575923	Human	2	name
402523523	CV3080639	single nucleotide variant	NM_004204.5(PIGQ):c.834G>A (p.Thr278=)	Epilepsy [RCV003647220]	likely benign	16	576146	576146	Human	2	name
402523744	CV3080849	single nucleotide variant	NM_004204.5(PIGQ):c.906C>T (p.Ile302=)	Epilepsy [RCV003647239]	likely benign	16	576218	576218	Human	2	name
405067928	CV3148918	single nucleotide variant	NM_004204.5(PIGQ):c.927C>T (p.Leu309=)	Epilepsy [RCV003850680]	likely benign	16	576239	576239	Human	2	name
405239808	CV3166023	duplication	NM_004204.5(PIGQ):c.255dup (p.Ala86fs)	Epilepsy [RCV003867035]	pathogenic	16	574328	574329	Human	2	name
402470498	CV3175192	single nucleotide variant	NM_004204.5(PIGQ):c.645G>T (p.Leu215=)	Epilepsy [RCV003874124]	likely benign	16	574719	574719	Human	2	name
404985719	CV3183805	single nucleotide variant	NM_004204.5(PIGQ):c.477G>T (p.Thr159=)	Epilepsy [RCV003881082]	likely benign	16	574551	574551	Human	2	name
405269211	CV3187246	single nucleotide variant	NM_004204.5(PIGQ):c.420G>A (p.Gln140=)	not provided [RCV003887330]	likely benign	16	574494	574494	Human		name
597947052	CV3755699	single nucleotide variant	NM_004204.5(PIGQ):c.981G>C (p.Leu327=)	Epilepsy [RCV005078709]	likely benign	16	578417	578417	Human	2	name
597834727	CV3760797	single nucleotide variant	NM_004204.5(PIGQ):c.814C>T (p.Leu272=)	Epilepsy [RCV005085348]	likely benign	16	575963	575963	Human	2	name
597939823	CV3788635	single nucleotide variant	NM_004204.5(PIGQ):c.555C>A (p.Pro185=)	Epilepsy [RCV005133310]	likely benign	16	574629	574629	Human	2	name
597961143	CV3794831	single nucleotide variant	NM_004204.5(PIGQ):c.69G>A (p.Trp23Ter)	Epilepsy [RCV005138736]	pathogenic	16	574143	574143	Human	2	name
597927084	CV3819828	single nucleotide variant	NM_004204.5(PIGQ):c.484C>T (p.Leu162=)	Epilepsy [RCV005156528]	likely benign	16	574558	574558	Human	2	name
597929777	CV3826873	deletion	NM_004204.5(PIGQ):c.1069+22_1069+30del	Epilepsy [RCV005156886]	likely benign	16	578524	578532	Human	2	name
597931108	CV3827055	single nucleotide variant	NM_004204.5(PIGQ):c.609G>A (p.Glu203=)	Epilepsy [RCV005157068]	likely benign	16	574683	574683	Human	2	name
597964927	CV3830614	single nucleotide variant	NM_004204.5(PIGQ):c.795G>A (p.Lys265=)	Epilepsy [RCV005164754]	likely benign	16	575944	575944	Human	2	name
13491698	CV465795	single nucleotide variant	NM_004204.5(PIGQ):c.915G>C (p.Leu305=)	Epilepsy [RCV000534417]\|not provided [RCV001675913]	benign	16	576227	576227	Human	2	name
13494993	CV466507	single nucleotide variant	NM_004204.5(PIGQ):c.918C>T (p.Ala306=)	Epilepsy [RCV000559310]\|PIGQ-related disorder [RCV003942726]\|not provided [RCV003389813]	likely benign	16	576230	576230	Human	3	name , trait , alternate_id
13486946	CV466512	single nucleotide variant	NM_004204.5(PIGQ):c.34G>A (p.Val12Ile)	Epilepsy [RCV000554015]\|not provided [RCV004715252]	benign	16	574108	574108	Human	2	name
13494490	CV466785	single nucleotide variant	NM_004204.5(PIGQ):c.810C>T (p.Ala270=)	Developmental and epileptic encephalopathy, 77 [RCV005231024]\|Epilepsy [RCV000558948]\|PIGQ-related disorder [RCV003905327]\|not provided [RCV004715253]	benign	16	575959	575959	Human	3	name , trait , alternate_id
13474728	CV466788	single nucleotide variant	NM_004204.5(PIGQ):c.996C>T (p.Ala332=)	Epilepsy [RCV000548397]\|PIGQ-related disorder [RCV003960253]\|not provided [RCV003333993]	likely benign	16	578432	578432	Human	3	name , trait , alternate_id
13612705	CV530067	single nucleotide variant	NM_004204.5(PIGQ):c.429G>A (p.Leu143=)	Epilepsy [RCV000630791]\|PIGQ-related disorder [RCV003928050]\|not provided [RCV004546537]	likely benign	16	574503	574503	Human	3	name , trait , alternate_id
13612533	CV530367	single nucleotide variant	NM_004204.5(PIGQ):c.77A>G (p.Glu26Gly)	Epilepsy [RCV000630786]	uncertain significance	16	574151	574151	Human	2	name
13612715	CV530391	single nucleotide variant	NM_004204.5(PIGQ):c.486G>C (p.Leu162=)	Epilepsy [RCV000630795]	likely benign	16	574560	574560	Human	2	name
13612717	CV530606	single nucleotide variant	NM_004204.5(PIGQ):c.41C>T (p.Thr14Met)	Epilepsy [RCV000630796]\|Inborn genetic diseases [RCV003258893]\|PIGQ-related disorder [RCV003928051]\|not provided [RCV003392468]	likely benign	16	574115	574115	Human	4	name , trait , alternate_id
13612516	CV530610	single nucleotide variant	NM_004204.5(PIGQ):c.91G>A (p.Val31Met)	Developmental and epileptic encephalopathy, 77 [RCV001803903]\|Epilepsy [RCV000630780]\|Inborn genetic diseases [RCV002528845]\|not provided [RCV002293466]	uncertain significance	16	574165	574165	Human	4	name
13612702	CV530620	single nucleotide variant	NM_004204.5(PIGQ):c.477G>A (p.Thr159=)	Epilepsy [RCV000630790]\|PIGQ-related disorder [RCV004735686]	likely benign	16	574551	574551	Human	3	name , trait , alternate_id
13612725	CV530621	single nucleotide variant	NM_004204.5(PIGQ):c.849G>T (p.Leu283=)	Epilepsy [RCV000630800]\|PIGQ-related disorder [RCV003953109]\|not provided [RCV003392469]	benign	16	576161	576161	Human	3	name , trait , alternate_id
13809868	CV570326	single nucleotide variant	NM_004204.5(PIGQ):c.74C>T (p.Pro25Leu)	Epilepsy [RCV000687967]	uncertain significance	16	574148	574148	Human	2	name
14698407	CV624091	single nucleotide variant	NM_004204.5(PIGQ):c.49G>A (p.Gly17Arg)	Developmental and epileptic encephalopathy, 77 [RCV005225142]\|PIGQ-related disorder [RCV000788055]	likely pathogenic\|uncertain significance	16	574123	574123	Human	1	name , trait , alternate_id
14713887	CV644776	single nucleotide variant	NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln)	Developmental and epileptic encephalopathy, 77 [RCV001542280]\|Epilepsy [RCV000810709]\|Inborn genetic diseases [RCV002537339]	uncertain significance	16	574139	574139	Human	4	name
15167932	CV703751	single nucleotide variant	NM_004204.5(PIGQ):c.498C>T (p.Phe166=)	Epilepsy [RCV000949152]	likely benign	16	574572	574572	Human	2	name
15182964	CV703752	single nucleotide variant	NM_004204.5(PIGQ):c.616A>C (p.Arg206=)	Epilepsy [RCV000952350]	likely benign	16	574690	574690	Human	2	name
15181555	CV703753	single nucleotide variant	NM_004204.5(PIGQ):c.720C>T (p.Leu240=)	Epilepsy [RCV001446127]	likely benign	16	575869	575869	Human	2	name
15183121	CV714994	single nucleotide variant	NM_004204.5(PIGQ):c.579G>A (p.Ser193=)	Epilepsy [RCV000974802]\|PIGQ-related disorder [RCV003953343]	likely benign	16	574653	574653	Human	3	name , trait , alternate_id
15149467	CV726709	single nucleotide variant	NM_004204.5(PIGQ):c.798G>A (p.Ala266=)	Epilepsy [RCV000879170]	likely benign	16	575947	575947	Human	2	name
15121006	CV755276	single nucleotide variant	NM_004204.5(PIGQ):c.412C>T (p.Leu138=)	Epilepsy [RCV000918409]	likely benign	16	574486	574486	Human	2	name
15111648	CV755280	single nucleotide variant	NM_004204.5(PIGQ):c.564G>A (p.Leu188=)	Epilepsy [RCV000916769]	likely benign	16	574638	574638	Human	2	name
15098450	CV770993	single nucleotide variant	NM_004204.5(PIGQ):c.970C>T (p.Leu324=)	Epilepsy [RCV001428302]	likely benign	16	578406	578406	Human	2	name
38479342	CV937504	single nucleotide variant	NM_004204.5(PIGQ):c.38C>G (p.Ser13Trp)	Epilepsy [RCV001205935]	uncertain significance	16	574112	574112	Human	2	name
38479693	CV937505	single nucleotide variant	NM_004204.5(PIGQ):c.82A>T (p.Ser28Cys)	Epilepsy [RCV001206084]\|Inborn genetic diseases [RCV002561212]	uncertain significance	16	574156	574156	Human	3	name
126730738	CV1012243	single nucleotide variant	NM_004204.5(PIGQ):c.220G>A (p.Glu74Lys)	Epilepsy [RCV001312917]	uncertain significance	16	574294	574294	Human	2	name
126771780	CV1032732	single nucleotide variant	NM_004204.5(PIGQ):c.148G>T (p.Ala50Ser)	Epilepsy [RCV001345245]\|Inborn genetic diseases [RCV003169668]\|not provided [RCV001762583]	uncertain significance	16	574222	574222	Human	3	name
126914427	CV1049720	single nucleotide variant	NM_004204.5(PIGQ):c.1167G>A (p.Ser389=)	Epilepsy [RCV001370469]	uncertain significance	16	578882	578882	Human	2	name
127235339	CV1063706	single nucleotide variant	NM_004204.5(PIGQ):c.211C>T (p.Gln71Ter)	Epilepsy [RCV001382377]	pathogenic	16	574285	574285	Human	2	name
127259837	CV1082282	single nucleotide variant	NM_004204.5(PIGQ):c.1392C>T (p.Ala464=)	Epilepsy [RCV001402063]	likely benign	16	580239	580239	Human	2	name
127259142	CV1104048	single nucleotide variant	NM_004204.5(PIGQ):c.1035C>T (p.Gly345=)	Epilepsy [RCV001438303]	likely benign	16	578471	578471	Human	2	name
127279460	CV1104050	single nucleotide variant	NM_004204.5(PIGQ):c.1179C>T (p.Ala393=)	Epilepsy [RCV001445805]\|not provided [RCV002264322]	likely benign	16	578894	578894	Human	2	name
127270391	CV1104070	single nucleotide variant	NM_004204.5(PIGQ):c.1635C>T (p.Arg545=)	Epilepsy [RCV001441443]	likely benign	16	582924	582924	Human	2	name
127337215	CV1125478	single nucleotide variant	NM_004204.5(PIGQ):c.1378C>T (p.Leu460=)	Epilepsy [RCV001475502]	likely benign	16	580225	580225	Human	2	name
127323339	CV1146361	single nucleotide variant	NM_004204.5(PIGQ):c.1191C>T (p.Phe397=)	Epilepsy [RCV001485205]	likely benign	16	578906	578906	Human	2	name
127295576	CV1146383	single nucleotide variant	NM_004204.5(PIGQ):c.1413C>G (p.Thr471=)	Epilepsy [RCV001497292]	likely benign	16	580260	580260	Human	2	name
127299799	CV1146385	single nucleotide variant	NM_004204.5(PIGQ):c.1716C>T (p.Pro572=)	Epilepsy [RCV001498409]	likely benign	16	583005	583005	Human	2	name
127293497	CV1157768	single nucleotide variant	NM_004204.5(PIGQ):c.1461C>G (p.Leu487=)	Developmental and epileptic encephalopathy, 77 [RCV001544405]\|Epilepsy [RCV001511374]\|not provided [RCV001692395]	benign	16	580902	580902	Human	3	name
150553983	CV1298381	single nucleotide variant	NM_004204.5(PIGQ):c.190G>A (p.Gly64Ser)	not provided [RCV001770580]	uncertain significance	16	574264	574264	Human		name
151893360	CV1338187	single nucleotide variant	NM_004204.5(PIGQ):c.1593G>A (p.Gln531=)	Epilepsy [RCV001944959]	uncertain significance	16	582309	582309	Human	2	name
151748035	CV1353120	single nucleotide variant	NM_004204.5(PIGQ):c.1146G>A (p.Thr382=)	Epilepsy [RCV001912670]	likely benign\|uncertain significance	16	578861	578861	Human	2	name
151863386	CV1374394	deletion	NM_004204.5(PIGQ):c.551del (p.Gly184fs)	Epilepsy [RCV001884226]	pathogenic	16	574623	574623	Human	2	name
151830630	CV1377808	single nucleotide variant	NM_004204.5(PIGQ):c.1392C>G (p.Ala464=)	Epilepsy [RCV002014279]	likely benign	16	580239	580239	Human	2	name
151797178	CV1392759	single nucleotide variant	NM_004204.5(PIGQ):c.271G>C (p.Glu91Gln)	Developmental and epileptic encephalopathy, 77 [RCV004546684]\|Epilepsy [RCV001898725]	uncertain significance	16	574345	574345	Human	3	name
151874814	CV1408581	single nucleotide variant	NM_004204.5(PIGQ):c.209G>A (p.Arg70Gln)	Epilepsy [RCV001906935]	uncertain significance	16	574283	574283	Human	2	name
151886221	CV1435547	single nucleotide variant	NM_004204.5(PIGQ):c.233G>C (p.Gly78Ala)	Epilepsy [RCV001962715]	uncertain significance	16	574307	574307	Human	2	name
151882754	CV1443286	single nucleotide variant	NM_004204.5(PIGQ):c.212A>G (p.Gln71Arg)	Epilepsy [RCV002037203]	uncertain significance	16	574286	574286	Human	2	name
151752253	CV1459226	single nucleotide variant	NM_004204.5(PIGQ):c.121A>T (p.Ile41Phe)	Epilepsy [RCV002043401]	uncertain significance	16	574195	574195	Human	2	name
151808035	CV1477740	deletion	NM_004204.5(PIGQ):c.449del (p.Arg150fs)	Epilepsy [RCV001953542]	pathogenic	16	574523	574523	Human	2	name
151799824	CV1479904	single nucleotide variant	NM_004204.5(PIGQ):c.110A>G (p.His37Arg)	Epilepsy [RCV001898960]	uncertain significance	16	574184	574184	Human	2	name
151860148	CV1482902	single nucleotide variant	NM_004204.5(PIGQ):c.293G>A (p.Arg98Gln)	Epilepsy [RCV001883815]	uncertain significance	16	574367	574367	Human	2	name
151892581	CV1493688	single nucleotide variant	NM_004204.5(PIGQ):c.215A>T (p.Glu72Val)	Epilepsy [RCV001944263]	uncertain significance	16	574289	574289	Human	2	name
152174970	CV1520590	single nucleotide variant	NM_004204.5(PIGQ):c.1393C>T (p.Leu465=)	Epilepsy [RCV002184692]	likely benign	16	580240	580240	Human	2	name
152037077	CV1532246	single nucleotide variant	NM_004204.5(PIGQ):c.1245T>C (p.His415=)	Epilepsy [RCV002125515]	likely benign	16	579090	579090	Human	2	name
152129232	CV1549223	single nucleotide variant	NM_004204.5(PIGQ):c.1167G>T (p.Ser389=)	Epilepsy [RCV002099258]	likely benign	16	578882	578882	Human	2	name
152140393	CV1549844	single nucleotide variant	NM_004204.5(PIGQ):c.1434C>T (p.Val478=)	Epilepsy [RCV002156693]	likely benign	16	580875	580875	Human	2	name
152109943	CV1551044	single nucleotide variant	NM_004204.5(PIGQ):c.1305C>T (p.Arg435=)	Epilepsy [RCV002152917]	likely benign	16	579150	579150	Human	2	name
152059482	CV1559045	single nucleotide variant	NM_004204.5(PIGQ):c.1366C>T (p.Leu456=)	Epilepsy [RCV002167825]	likely benign	16	580213	580213	Human	2	name
152119859	CV1576101	single nucleotide variant	NM_004204.5(PIGQ):c.1149G>C (p.Val383=)	Epilepsy [RCV002197901]	likely benign	16	578864	578864	Human	2	name
152089076	CV1580574	single nucleotide variant	NM_004204.5(PIGQ):c.1437C>G (p.Ala479=)	Epilepsy [RCV002093919]	likely benign	16	580878	580878	Human	2	name
152132010	CV1585009	single nucleotide variant	NM_004204.5(PIGQ):c.1560C>T (p.His520=)	Epilepsy [RCV002082989]	likely benign	16	582276	582276	Human	2	name
152068724	CV1589069	single nucleotide variant	NM_004204.5(PIGQ):c.1257A>G (p.Ser419=)	Epilepsy [RCV002209697]	likely benign	16	579102	579102	Human	2	name
152061950	CV1594420	single nucleotide variant	NM_004204.5(PIGQ):c.1281G>A (p.Lys427=)	Epilepsy [RCV002110216]	likely benign	16	579126	579126	Human	2	name
152171618	CV1597676	single nucleotide variant	NM_004204.5(PIGQ):c.1668C>T (p.Ser556=)	Epilepsy [RCV002162176]	likely benign	16	582957	582957	Human	2	name
152172604	CV1599193	single nucleotide variant	NM_004204.5(PIGQ):c.1611C>T (p.Tyr537=)	Epilepsy [RCV002143833]	likely benign	16	582900	582900	Human	2	name
152095048	CV1599513	single nucleotide variant	NM_004204.5(PIGQ):c.1359C>T (p.Phe453=)	Epilepsy [RCV002094725]	likely benign	16	580206	580206	Human	2	name
152078043	CV1602025	single nucleotide variant	NM_004204.5(PIGQ):c.1473C>T (p.Ile491=)	Epilepsy [RCV002148948]	likely benign	16	580914	580914	Human	2	name
152099617	CV1611911	single nucleotide variant	NM_004204.5(PIGQ):c.1317T>C (p.Cys439=)	Epilepsy [RCV002172923]	likely benign	16	579162	579162	Human	2	name
152146500	CV1615357	single nucleotide variant	NM_004204.5(PIGQ):c.1101G>A (p.Glu367=)	Epilepsy [RCV002101554]	likely benign	16	578816	578816	Human	2	name
152060831	CV1659770	single nucleotide variant	NM_004204.5(PIGQ):c.1080C>T (p.His360=)	Epilepsy [RCV002073657]	likely benign	16	578795	578795	Human	2	name
155749373	CV1773493	single nucleotide variant	NM_004204.5(PIGQ):c.227G>T (p.Ser76Ile)	Epilepsy [RCV002304581]	uncertain significance	16	574301	574301	Human	2	name
156059252	CV1867957	single nucleotide variant	NM_004204.5(PIGQ):c.1239G>A (p.Lys413=)	Epilepsy [RCV003037202]	likely benign	16	579084	579084	Human	2	name
156382225	CV1890095	single nucleotide variant	NM_004204.5(PIGQ):c.101C>T (p.Ala34Val)	Epilepsy [RCV003093376]	uncertain significance	16	574175	574175	Human	2	name
156293805	CV1892152	single nucleotide variant	NM_004204.5(PIGQ):c.1002C>A (p.Leu334=)	Epilepsy [RCV003061572]	likely benign	16	578438	578438	Human	2	name
156027918	CV1893371	single nucleotide variant	NM_004204.5(PIGQ):c.1623G>A (p.Val541=)	Epilepsy [RCV003077961]	likely benign	16	582912	582912	Human	2	name
156353068	CV1893471	single nucleotide variant	NM_004204.5(PIGQ):c.125C>T (p.Pro42Leu)	Epilepsy [RCV003091132]\|not provided [RCV005250273]	uncertain significance	16	574199	574199	Human	2	name
156225573	CV1896345	single nucleotide variant	NM_004204.5(PIGQ):c.1326C>T (p.Asp442=)	Epilepsy [RCV003085163]	likely benign	16	579171	579171	Human	2	name
156318668	CV1897654	single nucleotide variant	NM_004204.5(PIGQ):c.1495C>T (p.Leu499=)	Epilepsy [RCV002579103]	likely benign	16	580936	580936	Human	2	name
156085936	CV1898965	single nucleotide variant	NM_004204.5(PIGQ):c.227G>A (p.Ser76Asn)	Epilepsy [RCV003080037]	uncertain significance	16	574301	574301	Human	2	name
156195857	CV1900727	single nucleotide variant	NM_004204.5(PIGQ):c.284G>A (p.Arg95Gln)	Epilepsy [RCV002574568]	uncertain significance	16	574358	574358	Human	2	name
155955094	CV1915334	single nucleotide variant	NM_004204.5(PIGQ):c.1509C>T (p.Leu503=)	Epilepsy [RCV002616430]	likely benign	16	580950	580950	Human	2	name
156189180	CV1915699	single nucleotide variant	NM_004204.5(PIGQ):c.1566C>T (p.Ala522=)	Epilepsy [RCV002595317]	likely benign	16	582282	582282	Human	2	name
156220742	CV1925004	single nucleotide variant	NM_004204.5(PIGQ):c.271G>A (p.Glu91Lys)	Epilepsy [RCV002644395]	uncertain significance	16	574345	574345	Human	2	name
156293537	CV1926635	single nucleotide variant	NM_004204.5(PIGQ):c.1290C>T (p.Asn430=)	Epilepsy [RCV002628913]	likely benign	16	579135	579135	Human	2	name
156155228	CV1987675	single nucleotide variant	NM_004204.5(PIGQ):c.1407G>A (p.Val469=)	Epilepsy [RCV002642209]	likely benign	16	580254	580254	Human	2	name
156072727	CV2086353	single nucleotide variant	NM_004204.5(PIGQ):c.1260G>T (p.Leu420=)	Epilepsy [RCV002847123]	likely benign	16	579105	579105	Human	2	name
156050903	CV2091427	single nucleotide variant	NM_004204.5(PIGQ):c.1683C>T (p.Cys561=)	Epilepsy [RCV002886158]	likely benign	16	582972	582972	Human	2	name
156034695	CV2097664	single nucleotide variant	NM_004204.5(PIGQ):c.283C>T (p.Arg95Trp)	Epilepsy [RCV002885555]	uncertain significance	16	574357	574357	Human	2	name
156114798	CV2104575	single nucleotide variant	NM_004204.5(PIGQ):c.100G>C (p.Ala34Pro)	Epilepsy [RCV002927581]	uncertain significance	16	574174	574174	Human	2	name
156103138	CV2107861	single nucleotide variant	NM_004204.5(PIGQ):c.1269G>C (p.Leu423=)	Epilepsy [RCV002927125]	likely benign	16	579114	579114	Human	2	name
156226014	CV2115360	single nucleotide variant	NM_004204.5(PIGQ):c.1380G>T (p.Leu460=)	Epilepsy [RCV002932639]	uncertain significance	16	580227	580227	Human	2	name
156216023	CV2136024	single nucleotide variant	NM_004204.5(PIGQ):c.1536C>T (p.Gly512=)	Epilepsy [RCV003007183]	likely benign	16	582252	582252	Human	2	name
155902044	CV2151610	single nucleotide variant	NM_004204.5(PIGQ):c.115C>T (p.Pro39Ser)	Epilepsy [RCV003011690]	uncertain significance	16	574189	574189	Human	2	name
156234037	CV2153383	single nucleotide variant	NM_004204.5(PIGQ):c.1512C>T (p.Cys504=)	Epilepsy [RCV003025754]	likely benign	16	580953	580953	Human	2	name
156121725	CV2174967	deletion	NM_004204.5(PIGQ):c.909del (p.His304fs)	Epilepsy [RCV003055493]	pathogenic	16	576219	576219	Human	2	name
156131614	CV2182164	single nucleotide variant	NM_004204.5(PIGQ):c.1026G>A (p.Gln342=)	Epilepsy [RCV003055859]	uncertain significance	16	578462	578462	Human	2	name
156145201	CV2190281	single nucleotide variant	NM_004204.5(PIGQ):c.124C>G (p.Pro42Ala)	Epilepsy [RCV003056333]	uncertain significance	16	574198	574198	Human	2	name
156118243	CV2346022	single nucleotide variant	NM_004204.5(PIGQ):c.292C>T (p.Arg98Trp)	Inborn genetic diseases [RCV002981059]	uncertain significance	16	574366	574366	Human	1	name
401904607	CV2810708	single nucleotide variant	NM_004204.5(PIGQ):c.1479C>T (p.Ser493=)	Epilepsy [RCV003530318]\|not provided [RCV003395118]	likely benign	16	580920	580920	Human	2	name
405040219	CV2864047	single nucleotide variant	NM_004204.5(PIGQ):c.1521C>T (p.Tyr507=)	Epilepsy [RCV003530352]	likely benign	16	580962	580962	Human	2	name
405042939	CV2870992	single nucleotide variant	NM_004204.5(PIGQ):c.1425C>T (p.Leu475=)	Epilepsy [RCV003530576]	likely benign	16	580866	580866	Human	2	name
405044561	CV2879994	single nucleotide variant	NM_004204.5(PIGQ):c.1185C>T (p.Leu395=)	Epilepsy [RCV003530692]	likely benign	16	578900	578900	Human	2	name
405045620	CV2884952	single nucleotide variant	NM_004204.5(PIGQ):c.1182C>T (p.Leu394=)	Epilepsy [RCV003530771]	likely benign	16	578897	578897	Human	2	name
405046676	CV2886648	single nucleotide variant	NM_004204.5(PIGQ):c.1062G>A (p.Leu354=)	Epilepsy [RCV003530857]	likely benign	16	578498	578498	Human	2	name
405048199	CV2899373	single nucleotide variant	NM_004204.5(PIGQ):c.1176C>T (p.Ile392=)	Epilepsy [RCV003530978]	likely benign	16	578891	578891	Human	2	name
405050484	CV2907283	single nucleotide variant	NM_004204.5(PIGQ):c.1185C>A (p.Leu395=)	Epilepsy [RCV003531087]	likely benign	16	578900	578900	Human	2	name
405050873	CV2912987	single nucleotide variant	NM_004204.5(PIGQ):c.1284G>A (p.Lys428=)	Epilepsy [RCV003531176]	likely benign	16	579129	579129	Human	2	name
405052308	CV2921047	single nucleotide variant	NM_004204.5(PIGQ):c.1059C>T (p.His353=)	Epilepsy [RCV003531282]	likely benign	16	578495	578495	Human	2	name
405052744	CV2924879	single nucleotide variant	NM_004204.5(PIGQ):c.1638C>T (p.Leu546=)	Epilepsy [RCV003531315]	likely benign	16	582927	582927	Human	2	name
402510872	CV2959668	single nucleotide variant	NM_004204.5(PIGQ):c.1434C>G (p.Val478=)	Epilepsy [RCV003646152]	likely benign	16	580875	580875	Human	2	name
402513464	CV2978754	single nucleotide variant	NM_004204.5(PIGQ):c.1674C>A (p.Gly558=)	Epilepsy [RCV003646357]	likely benign	16	582963	582963	Human	2	name
402514236	CV2990881	single nucleotide variant	NM_004204.5(PIGQ):c.223G>T (p.Glu75Ter)	Epilepsy [RCV003646427]	pathogenic	16	574297	574297	Human	2	name
402515328	CV3002525	single nucleotide variant	NM_004204.5(PIGQ):c.1713C>T (p.Tyr571=)	Epilepsy [RCV003646469]	likely benign	16	583002	583002	Human	2	name
402516282	CV3007062	single nucleotide variant	NM_004204.5(PIGQ):c.1029G>C (p.Val343=)	Epilepsy [RCV003646630]	uncertain significance	16	578465	578465	Human	2	name
402516877	CV3012033	single nucleotide variant	NM_004204.5(PIGQ):c.1680G>A (p.Leu560=)	Epilepsy [RCV003646547]	likely benign	16	582969	582969	Human	2	name
402520940	CV3057508	single nucleotide variant	NM_004204.5(PIGQ):c.1692G>A (p.Leu564=)	Epilepsy [RCV003647005]\|Inborn genetic diseases [RCV004953465]	likely benign\|uncertain significance	16	582981	582981	Human	3	name
402522494	CV3070806	single nucleotide variant	NM_004204.5(PIGQ):c.1491C>T (p.Tyr497=)	Epilepsy [RCV003647136]	likely benign	16	580932	580932	Human	2	name
402522964	CV3074257	single nucleotide variant	NM_004204.5(PIGQ):c.1557G>A (p.Arg519=)	Epilepsy [RCV003647175]	likely benign	16	582273	582273	Human	2	name
405133117	CV3115277	single nucleotide variant	NM_004204.5(PIGQ):c.275C>A (p.Pro92His)	Epilepsy [RCV003816122]	uncertain significance	16	574349	574349	Human	2	name
405150268	CV3123313	single nucleotide variant	NM_004204.5(PIGQ):c.1249C>T (p.Leu417=)	Epilepsy [RCV003817546]	likely benign	16	579094	579094	Human	2	name
405134546	CV3133916	single nucleotide variant	NM_004204.5(PIGQ):c.220G>T (p.Glu74Ter)	Epilepsy [RCV003838695]	pathogenic	16	574294	574294	Human	2	name
405168130	CV3153665	single nucleotide variant	NM_004204.5(PIGQ):c.1740G>A (p.Gln580=)	Epilepsy [RCV003841210]	likely benign	16	583029	583029	Human	2	name
596946012	CV3548174	single nucleotide variant	NM_004204.5(PIGQ):c.1389A>G (p.Thr463=)	not provided [RCV004809505]	likely benign	16	580236	580236	Human		name
597715900	CV3579595	single nucleotide variant	NM_004204.5(PIGQ):c.235C>T (p.Arg79Cys)	Inborn genetic diseases [RCV004959778]	likely benign	16	574309	574309	Human	1	name
597715918	CV3579598	single nucleotide variant	NM_004204.5(PIGQ):c.1665C>T (p.His555=)	Inborn genetic diseases [RCV004959781]	uncertain significance	16	582954	582954	Human	1	name
597947952	CV3759055	deletion	NM_004204.5(PIGQ):c.637del (p.Cys213fs)	Epilepsy [RCV005078851]	pathogenic	16	574709	574709	Human	2	name
597891251	CV3762972	single nucleotide variant	NM_004204.5(PIGQ):c.1227G>A (p.Leu409=)	Epilepsy [RCV005110745]	likely benign	16	579072	579072	Human	2	name
597897241	CV3782260	single nucleotide variant	NM_004204.5(PIGQ):c.1605G>T (p.Leu535=)	Epilepsy [RCV005126485]	likely benign	16	582894	582894	Human	2	name
597965100	CV3792268	deletion	NM_004204.5(PIGQ):c.532del (p.Ser178fs)	Epilepsy [RCV005139825]	pathogenic	16	574606	574606	Human	2	name
597933447	CV3810717	single nucleotide variant	NM_004204.5(PIGQ):c.1554C>T (p.Leu518=)	Epilepsy [RCV005157426]	likely benign	16	582270	582270	Human	2	name
597855833	CV3816514	single nucleotide variant	NM_004204.5(PIGQ):c.1092C>T (p.Pro364=)	Epilepsy [RCV005146086]	likely benign	16	578807	578807	Human	2	name
597864406	CV3823153	single nucleotide variant	NM_004204.5(PIGQ):c.1248C>T (p.Gly416=)	Epilepsy [RCV005175503]	likely benign	16	579093	579093	Human	2	name
597887373	CV3839054	single nucleotide variant	NM_004204.5(PIGQ):c.1344C>T (p.Ile448=)	Epilepsy [RCV005179139]	likely benign	16	580191	580191	Human	2	name
597935546	CV3845256	single nucleotide variant	NM_004204.5(PIGQ):c.1131C>T (p.Ala377=)	Epilepsy [RCV005186569]	likely benign	16	578846	578846	Human	2	name
597942971	CV3847377	single nucleotide variant	NM_004204.5(PIGQ):c.1626C>T (p.His542=)	Epilepsy [RCV005188296]	likely benign	16	582915	582915	Human	2	name
597949427	CV3852543	single nucleotide variant	NM_004204.5(PIGQ):c.1311C>T (p.Asp437=)	Epilepsy [RCV005189621]	likely benign	16	579156	579156	Human	2	name
597894883	CV3857256	single nucleotide variant	NM_004204.5(PIGQ):c.1194C>T (p.His398=)	Epilepsy [RCV005201120]	likely benign	16	578909	578909	Human	2	name
598272079	CV4006510	single nucleotide variant	NM_004204.5(PIGQ):c.1674C>G (p.Gly558=)	Inborn genetic diseases [RCV005389306]	uncertain significance	16	582963	582963	Human	1	name
13490969	CV465796	single nucleotide variant	NM_004204.5(PIGQ):c.1209C>T (p.Tyr403=)	Epilepsy [RCV000556373]\|PIGQ-related disorder [RCV003905325]\|not provided [RCV003389812]	likely benign	16	578924	578924	Human	3	name , trait , alternate_id
13495344	CV465806	single nucleotide variant	NM_004204.5(PIGQ):c.1485G>A (p.Pro495=)	Epilepsy [RCV000559559]\|not provided [RCV003884597]	likely benign	16	580926	580926	Human	2	name
13491570	CV465814	single nucleotide variant	NM_004204.5(PIGQ):c.1617C>T (p.Arg539=)	Epilepsy [RCV000556811]\|not provided [RCV003392364]	benign\|likely benign	16	582906	582906	Human	2	name
13478846	CV466504	single nucleotide variant	NM_004204.5(PIGQ):c.290G>T (p.Cys97Phe)	Epilepsy [RCV000550247]	uncertain significance	16	574364	574364	Human	2	name
13473337	CV466768	single nucleotide variant	NM_004204.5(PIGQ):c.236G>A (p.Arg79His)	Epilepsy [RCV000525332]	uncertain significance	16	574310	574310	Human	2	name
13480435	CV466772	single nucleotide variant	NM_004204.5(PIGQ):c.295G>A (p.Glu99Lys)	Epilepsy [RCV000528533]\|not provided [RCV005243267]	uncertain significance	16	574369	574369	Human	2	name
13612713	CV530196	single nucleotide variant	NM_004204.5(PIGQ):c.1116C>T (p.His372=)	Epilepsy [RCV000630794]\|not provided [RCV003222068]	likely benign	16	578831	578831	Human	2	name
13612722	CV530406	single nucleotide variant	NM_004204.5(PIGQ):c.1557G>C (p.Arg519=)	Epilepsy [RCV000630799]	likely benign	16	582273	582273	Human	2	name
13612707	CV530626	single nucleotide variant	NM_004204.5(PIGQ):c.1020G>A (p.Leu340=)	Epilepsy [RCV000630792]	likely benign	16	578456	578456	Human	2	name
13612700	CV530632	single nucleotide variant	NM_004204.5(PIGQ):c.1461C>T (p.Leu487=)	Epilepsy [RCV000630788]	likely benign	16	580902	580902	Human	2	name
13807414	CV570328	single nucleotide variant	NM_004204.5(PIGQ):c.242T>C (p.Leu81Pro)	Epilepsy [RCV000701100]	uncertain significance	16	574316	574316	Human	2	name
14705348	CV644777	single nucleotide variant	NM_004204.5(PIGQ):c.158G>A (p.Arg53Gln)	Epilepsy [RCV000808085]\|not provided [RCV001815480]	likely benign\|uncertain significance	16	574232	574232	Human	2	name
14705703	CV644778	single nucleotide variant	NM_004204.5(PIGQ):c.178G>A (p.Val60Met)	Epilepsy [RCV000791772]	uncertain significance	16	574252	574252	Human	2	name
14724127	CV644787	deletion	NM_004204.5(PIGQ):c.618del (p.Arg206fs)	Epilepsy [RCV000798268]	pathogenic\|uncertain significance	16	574691	574691	Human	2	name
14738023	CV644800	single nucleotide variant	NM_004204.5(PIGQ):c.1530G>A (p.Ala510=)	Epilepsy [RCV000820745]	uncertain significance	16	580971	580971	Human	2	name
15146832	CV693906	single nucleotide variant	NM_004204.5(PIGQ):c.1674C>T (p.Gly558=)	Epilepsy [RCV000878625]\|Inborn genetic diseases [RCV002536800]	likely benign	16	582963	582963	Human	3	name
15182307	CV703762	single nucleotide variant	NM_004204.5(PIGQ):c.1437C>T (p.Ala479=)	Epilepsy [RCV000952185]\|not provided [RCV005243434]	likely benign	16	580878	580878	Human	2	name
15109971	CV726714	single nucleotide variant	NM_004204.5(PIGQ):c.1251G>A (p.Leu417=)	Epilepsy [RCV002065608]	likely benign	16	579096	579096	Human	2	name
15150687	CV726719	single nucleotide variant	NM_004204.5(PIGQ):c.1602A>G (p.Pro534=)	Epilepsy [RCV001485139]\|Inborn genetic diseases [RCV002539282]	likely benign\|uncertain significance	16	582891	582891	Human	3	name
15138548	CV740291	single nucleotide variant	NM_004204.5(PIGQ):c.1737G>A (p.Lys579=)	Epilepsy [RCV003530114]	likely benign	16	583026	583026	Human	2	name
15139485	CV755298	single nucleotide variant	NM_004204.5(PIGQ):c.1447C>T (p.Leu483=)	Epilepsy [RCV001485204]	likely benign	16	580888	580888	Human	2	name
15119585	CV770995	single nucleotide variant	NM_004204.5(PIGQ):c.1650C>G (p.Gly550=)	Epilepsy [RCV001400217]	likely benign	16	582939	582939	Human	2	name
26913221	CV844034	single nucleotide variant	NM_004204.5(PIGQ):c.184G>A (p.Val62Met)	Epilepsy [RCV001035437]	uncertain significance	16	574258	574258	Human	2	name
26892300	CV844035	single nucleotide variant	NM_004204.5(PIGQ):c.194C>T (p.Thr65Ile)	Epilepsy [RCV001061639]	uncertain significance	16	574268	574268	Human	2	name
26915653	CV844046	single nucleotide variant	NM_004204.5(PIGQ):c.1137G>A (p.Leu379=)	Epilepsy [RCV001039281]	likely benign\|uncertain significance	16	578852	578852	Human	2	name
8635851	CV91074	single nucleotide variant	NM_004204.3(PIGQ):c.1141C>T (p.Leu381=)	Malignant melanoma [RCV000071172]	not provided	16	578856	578856	Human		name
38488310	CV927873	single nucleotide variant	NM_004204.5(PIGQ):c.157C>T (p.Arg53Trp)	Epilepsy [RCV001221157]	uncertain significance	16	574231	574231	Human	2	name
126728166	CV997001	single nucleotide variant	NM_004204.5(PIGQ):c.208C>T (p.Arg70Trp)	Epilepsy [RCV001303329]	uncertain significance	16	574282	574282	Human	2	name
126754130	CV1012244	single nucleotide variant	NM_004204.5(PIGQ):c.364G>C (p.Gly122Arg)	Epilepsy [RCV001327438]	uncertain significance	16	574438	574438	Human	2	name
126753589	CV1012245	single nucleotide variant	NM_004204.5(PIGQ):c.608A>C (p.Glu203Ala)	Epilepsy [RCV001316510]	uncertain significance	16	574682	574682	Human	2	name
126728935	CV1032733	single nucleotide variant	NM_004204.5(PIGQ):c.751C>T (p.Arg251Trp)	Epilepsy [RCV001349019]	uncertain significance	16	575900	575900	Human	2	name
126745001	CV1032734	single nucleotide variant	NM_004204.5(PIGQ):c.797C>T (p.Ala266Val)	Epilepsy [RCV001337152]	uncertain significance	16	575946	575946	Human	2	name
126767330	CV1032735	single nucleotide variant	NM_004204.5(PIGQ):c.856G>T (p.Val286Leu)	Epilepsy [RCV001342779]	uncertain significance	16	576168	576168	Human	2	name
126757145	CV1032736	single nucleotide variant	NM_004204.5(PIGQ):c.928G>A (p.Val310Ile)	Epilepsy [RCV001339484]\|Inborn genetic diseases [RCV002546874]	likely benign\|uncertain significance	16	576240	576240	Human	3	name
126911059	CV1049712	single nucleotide variant	NM_004204.5(PIGQ):c.332A>C (p.His111Pro)	Epilepsy [RCV001369049]	uncertain significance	16	574406	574406	Human	2	name
126919973	CV1049713	single nucleotide variant	NM_004204.5(PIGQ):c.503C>T (p.Thr168Met)	Developmental and epileptic encephalopathy, 77 [RCV003224561]\|Epilepsy [RCV001373536]	uncertain significance	16	574577	574577	Human	3	name
126913176	CV1049714	single nucleotide variant	NM_004204.5(PIGQ):c.538C>T (p.Arg180Cys)	Epilepsy [RCV001359076]\|not provided [RCV003389868]	likely benign\|uncertain significance	16	574612	574612	Human	2	name
126917289	CV1049715	single nucleotide variant	NM_004204.5(PIGQ):c.560G>A (p.Arg187Gln)	Epilepsy [RCV001371990]	uncertain significance	16	574634	574634	Human	2	name
150484151	CV1263117	deletion	NM_004204.5(PIGQ):c.1335+278_1335+349del	not provided [RCV001686517]	benign	16	579448	579519	Human		name
150448537	CV1275553	deletion	NM_004204.5(PIGQ):c.1335+267_1335+338del	not provided [RCV001708008]	benign	16	579428	579499	Human		name
150551923	CV1296315	single nucleotide variant	NM_004204.5(PIGQ):c.682G>C (p.Ala228Pro)	Epilepsy [RCV002032849]\|not provided [RCV001767325]	uncertain significance	16	574756	574756	Human	2	name
150534333	CV1300537	single nucleotide variant	NM_004204.5(PIGQ):c.376G>A (p.Val126Ile)	Inborn genetic diseases [RCV004040225]\|not provided [RCV001758665]	uncertain significance	16	574450	574450	Human	1	name
151758620	CV1340562	single nucleotide variant	NM_004204.5(PIGQ):c.626C>T (p.Ser209Leu)	Epilepsy [RCV001913720]\|Inborn genetic diseases [RCV002557627]	uncertain significance	16	574700	574700	Human	3	name
151778952	CV1342898	single nucleotide variant	NM_004204.5(PIGQ):c.890A>C (p.His297Pro)	Epilepsy [RCV001988954]\|Inborn genetic diseases [RCV005382332]	uncertain significance	16	576202	576202	Human	3	name
151823234	CV1351415	single nucleotide variant	NM_004204.5(PIGQ):c.554C>G (p.Pro185Arg)	Epilepsy [RCV001992988]	uncertain significance	16	574628	574628	Human	2	name
151855111	CV1353967	single nucleotide variant	NM_004204.5(PIGQ):c.448C>T (p.Arg150Cys)	Epilepsy [RCV001979428]	uncertain significance	16	574522	574522	Human	2	name
151715320	CV1355005	single nucleotide variant	NM_004204.5(PIGQ):c.578C>T (p.Ser193Leu)	Epilepsy [RCV001965116]	uncertain significance	16	574652	574652	Human	2	name
151827153	CV1359916	single nucleotide variant	NM_004204.5(PIGQ):c.833C>T (p.Thr278Met)	Epilepsy [RCV002050359]\|not provided [RCV004694165]	uncertain significance	16	576145	576145	Human	2	name
151750650	CV1360860	single nucleotide variant	NM_004204.5(PIGQ):c.481G>T (p.Gly161Cys)	Epilepsy [RCV001894295]\|not provided [RCV002243475]	uncertain significance	16	574555	574555	Human	2	name
151851108	CV1361944	single nucleotide variant	NM_004204.5(PIGQ):c.566G>A (p.Ser189Asn)	Epilepsy [RCV001978950]\|Inborn genetic diseases [RCV005382295]	uncertain significance	16	574640	574640	Human	3	name
151804146	CV1371746	single nucleotide variant	NM_004204.5(PIGQ):c.502A>T (p.Thr168Ser)	Epilepsy [RCV001953202]	uncertain significance	16	574576	574576	Human	2	name
151784331	CV1374390	single nucleotide variant	NM_004204.5(PIGQ):c.706C>T (p.Pro236Ser)	Epilepsy [RCV001875663]\|Inborn genetic diseases [RCV005382238]	uncertain significance	16	575855	575855	Human	3	name
151882726	CV1381917	single nucleotide variant	NM_004204.5(PIGQ):c.842C>G (p.Ser281Cys)	Epilepsy [RCV001941358]	uncertain significance	16	576154	576154	Human	2	name
151836305	CV1383032	duplication	NM_004204.5(PIGQ):c.52_70dup (p.Val24fs)	Epilepsy [RCV001935593]	pathogenic	16	574122	574123	Human	2	name
151789412	CV1388974	deletion	NM_004204.5(PIGQ):c.1684del (p.Arg562fs)	Epilepsy [RCV002010546]	uncertain significance	16	582972	582972	Human	2	name
151852609	CV1397430	single nucleotide variant	NM_004204.5(PIGQ):c.761T>C (p.Leu254Pro)	Epilepsy [RCV001958195]	uncertain significance	16	575910	575910	Human	2	name
151744148	CV1401516	single nucleotide variant	NM_004204.5(PIGQ):c.662C>T (p.Ser221Leu)	Epilepsy [RCV001947406]\|Inborn genetic diseases [RCV002550400]	uncertain significance	16	574736	574736	Human	3	name
151772808	CV1402726	single nucleotide variant	NM_004204.5(PIGQ):c.335G>C (p.Arg112Pro)	Epilepsy [RCV001896506]	uncertain significance	16	574409	574409	Human	2	name
151773144	CV1402781	single nucleotide variant	NM_004204.5(PIGQ):c.819G>A (p.Met273Ile)	Epilepsy [RCV001896536]	uncertain significance	16	575968	575968	Human	2	name
151742421	CV1407448	single nucleotide variant	NM_004204.5(PIGQ):c.514A>G (p.Ser172Gly)	Epilepsy [RCV002042362]\|Inborn genetic diseases [RCV004038889]	uncertain significance	16	574588	574588	Human	3	name
151726729	CV1416237	deletion	NM_004204.5(PIGQ):c.1717del (p.Trp573fs)	Epilepsy [RCV001945618]	uncertain significance	16	583006	583006	Human	2	name
151870690	CV1417179	single nucleotide variant	NM_004204.5(PIGQ):c.746A>G (p.Gln249Arg)	Epilepsy [RCV001998292]	uncertain significance	16	575895	575895	Human	2	name
151879443	CV1419407	single nucleotide variant	NM_004204.5(PIGQ):c.629G>T (p.Gly210Val)	Epilepsy [RCV001982321]	uncertain significance	16	574703	574703	Human	2	name
151818937	CV1420926	single nucleotide variant	NM_004204.5(PIGQ):c.333C>A (p.His111Gln)	Epilepsy [RCV002049596]\|Inborn genetic diseases [RCV002545743]	uncertain significance	16	574407	574407	Human	3	name
151776485	CV1424392	single nucleotide variant	NM_004204.5(PIGQ):c.902G>C (p.Arg301Pro)	Epilepsy [RCV002025857]	uncertain significance	16	576214	576214	Human	2	name
151769482	CV1424560	single nucleotide variant	NM_004204.5(PIGQ):c.754C>T (p.His252Tyr)	Epilepsy [RCV001874307]	uncertain significance	16	575903	575903	Human	2	name
151799696	CV1430704	single nucleotide variant	NM_004204.5(PIGQ):c.325G>A (p.Ala109Thr)	Developmental and epileptic encephalopathy, 77 [RCV004728881]\|Epilepsy [RCV001877264]\|Inborn genetic diseases [RCV004953227]	likely benign\|uncertain significance	16	574399	574399	Human	4	name
151818278	CV1446049	single nucleotide variant	NM_004204.5(PIGQ):c.865G>C (p.Gly289Arg)	Epilepsy [RCV001975475]	uncertain significance	16	576177	576177	Human	2	name
151810496	CV1446548	single nucleotide variant	NM_004204.5(PIGQ):c.901C>T (p.Arg301Cys)	Epilepsy [RCV002012387]\|not provided [RCV003389889]	uncertain significance	16	576213	576213	Human	2	name
151832733	CV1447357	single nucleotide variant	NM_004204.5(PIGQ):c.707C>T (p.Pro236Leu)	Epilepsy [RCV001880463]\|Inborn genetic diseases [RCV004039590]	uncertain significance	16	575856	575856	Human	3	name
151831774	CV1457204	single nucleotide variant	NM_004204.5(PIGQ):c.539G>A (p.Arg180His)	Epilepsy [RCV001935123]	uncertain significance	16	574613	574613	Human	2	name
151759885	CV1459336	single nucleotide variant	NM_004204.5(PIGQ):c.601C>T (p.Leu201Phe)	Epilepsy [RCV002044149]	uncertain significance	16	574675	574675	Human	2	name
151847702	CV1461928	single nucleotide variant	NM_004204.5(PIGQ):c.466A>G (p.Thr156Ala)	Epilepsy [RCV001936933]\|Inborn genetic diseases [RCV002562222]	uncertain significance	16	574540	574540	Human	3	name
151871417	CV1477081	single nucleotide variant	NM_004204.5(PIGQ):c.986G>A (p.Gly329Asp)	Epilepsy [RCV001906535]	uncertain significance	16	578422	578422	Human	2	name
151877135	CV1479441	single nucleotide variant	NM_004204.5(PIGQ):c.532A>C (p.Ser178Arg)	Epilepsy [RCV001885995]	uncertain significance	16	574606	574606	Human	2	name
151734922	CV1490617	single nucleotide variant	NM_004204.5(PIGQ):c.847C>G (p.Leu283Val)	Epilepsy [RCV001967502]	uncertain significance	16	576159	576159	Human	2	name
151886859	CV1495883	single nucleotide variant	NM_004204.5(PIGQ):c.559C>T (p.Arg187Trp)	Epilepsy [RCV001887649]	uncertain significance	16	574633	574633	Human	2	name
151857682	CV1500474	single nucleotide variant	NM_004204.5(PIGQ):c.340G>A (p.Ala114Thr)	Epilepsy [RCV001938150]	uncertain significance	16	574414	574414	Human	2	name
151734432	CV1501162	single nucleotide variant	NM_004204.5(PIGQ):c.602T>C (p.Leu201Pro)	Epilepsy [RCV002005121]	uncertain significance	16	574676	574676	Human	2	name
151888166	CV1501974	single nucleotide variant	NM_004204.5(PIGQ):c.488C>G (p.Ala163Gly)	Epilepsy [RCV001942533]\|Inborn genetic diseases [RCV002550333]	uncertain significance	16	574562	574562	Human	3	name
151852783	CV1501985	single nucleotide variant	NM_004204.5(PIGQ):c.605C>A (p.Ala202Glu)	Epilepsy [RCV001937579]	uncertain significance	16	574679	574679	Human	2	name
151721080	CV1504548	single nucleotide variant	NM_004204.5(PIGQ):c.755A>C (p.His252Pro)	Epilepsy [RCV001983088]	uncertain significance	16	575904	575904	Human	2	name
151774101	CV1505003	single nucleotide variant	NM_004204.5(PIGQ):c.493G>A (p.Val165Ile)	Epilepsy [RCV002009128]	uncertain significance	16	574567	574567	Human	2	name
151792274	CV1515569	single nucleotide variant	NM_004204.5(PIGQ):c.352C>T (p.Pro118Ser)	Epilepsy [RCV002027338]	uncertain significance	16	574426	574426	Human	2	name
152061795	CV1666426	single nucleotide variant	NM_004204.5(PIGQ):c.880T>C (p.Ser294Pro)	Developmental and epileptic encephalopathy, 77 [RCV002208763]	uncertain significance	16	576192	576192	Human	1	name
155663904	CV1773191	single nucleotide variant	NM_004204.5(PIGQ):c.734C>T (p.Ser245Phe)	Epilepsy [RCV002296903]	uncertain significance	16	575883	575883	Human	2	name
155672039	CV1773971	single nucleotide variant	NM_004204.5(PIGQ):c.517G>C (p.Glu173Gln)	Epilepsy [RCV002297542]	uncertain significance	16	574591	574591	Human	2	name
9850352	CV181445	single nucleotide variant	NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)	Developmental and epileptic encephalopathy, 77 [RCV000850139]\|Epilepsy [RCV002516438]\|Global developmental delay [RCV000162174]	pathogenic\|likely pathogenic	16	574693	574693	Human	6	name
156403424	CV1871721	single nucleotide variant	NM_004204.5(PIGQ):c.688C>G (p.Arg230Gly)	Epilepsy [RCV003052594]	uncertain significance	16	574762	574762	Human	2	name
156376902	CV1878674	single nucleotide variant	NM_004204.5(PIGQ):c.817A>G (p.Met273Val)	Epilepsy [RCV003066810]	uncertain significance	16	575966	575966	Human	2	name
156404067	CV1898110	single nucleotide variant	NM_004204.5(PIGQ):c.637T>C (p.Cys213Arg)	Epilepsy [RCV002585330]	uncertain significance	16	574711	574711	Human	2	name
156135436	CV1901853	single nucleotide variant	NM_004204.5(PIGQ):c.700C>T (p.Leu234Phe)	Epilepsy [RCV003081997]	uncertain significance	16	575849	575849	Human	2	name
156204155	CV1905775	single nucleotide variant	NM_004204.5(PIGQ):c.804C>A (p.Asn268Lys)	Epilepsy [RCV003084331]\|Inborn genetic diseases [RCV003089934]	uncertain significance	16	575953	575953	Human	3	name
156020279	CV1909459	single nucleotide variant	NM_004204.5(PIGQ):c.511C>T (p.Arg171Cys)	Epilepsy [RCV002619360]	uncertain significance	16	574585	574585	Human	2	name
156156424	CV1926236	single nucleotide variant	NM_004204.5(PIGQ):c.625T>G (p.Ser209Ala)	Epilepsy [RCV002624198]	uncertain significance	16	574699	574699	Human	2	name
156047331	CV1927165	single nucleotide variant	NM_004204.5(PIGQ):c.520G>A (p.Val174Met)	Epilepsy [RCV002637810]	uncertain significance	16	574594	574594	Human	2	name
156151066	CV1929287	single nucleotide variant	NM_004204.5(PIGQ):c.791G>A (p.Arg264Gln)	Epilepsy [RCV002624005]\|Inborn genetic diseases [RCV004961133]	likely benign\|uncertain significance	16	575940	575940	Human	3	name
156194035	CV2038126	single nucleotide variant	NM_004204.5(PIGQ):c.892G>T (p.Gly298Trp)	Epilepsy [RCV002766001]	uncertain significance	16	576204	576204	Human	2	name
156108704	CV2038655	single nucleotide variant	NM_004204.5(PIGQ):c.865G>A (p.Gly289Ser)	Epilepsy [RCV002761604]\|Inborn genetic diseases [RCV003167727]	uncertain significance	16	576177	576177	Human	3	name
156324762	CV2068436	single nucleotide variant	NM_004204.5(PIGQ):c.741C>G (p.Cys247Trp)	Epilepsy [RCV002834943]	uncertain significance	16	575890	575890	Human	2	name
156013127	CV2121203	single nucleotide variant	NM_004204.5(PIGQ):c.418C>T (p.Gln140Ter)	Developmental and epileptic encephalopathy [RCV005362930]\|Epilepsy [RCV002948386]	pathogenic\|likely pathogenic	16	574492	574492	Human	3	name
156102614	CV2132364	single nucleotide variant	NM_004204.5(PIGQ):c.952G>A (p.Glu318Lys)	Epilepsy [RCV003002272]	uncertain significance	16	578388	578388	Human	2	name
156037810	CV2143294	single nucleotide variant	NM_004204.5(PIGQ):c.616A>T (p.Arg206Trp)	Epilepsy [RCV002999401]\|Inborn genetic diseases [RCV003377828]	uncertain significance	16	574690	574690	Human	3	name
156080011	CV2158359	single nucleotide variant	NM_004204.5(PIGQ):c.710T>C (p.Leu237Pro)	Epilepsy [RCV003037849]	uncertain significance	16	575859	575859	Human	2	name
156202480	CV2163608	single nucleotide variant	NM_004204.5(PIGQ):c.499G>C (p.Asp167His)	Epilepsy [RCV003042020]	uncertain significance	16	574573	574573	Human	2	name
156311857	CV2164172	single nucleotide variant	NM_004204.5(PIGQ):c.399G>C (p.Gln133His)	Epilepsy [RCV003046076]	uncertain significance	16	574473	574473	Human	2	name
155959582	CV2183349	single nucleotide variant	NM_004204.5(PIGQ):c.734C>G (p.Ser245Cys)	Epilepsy [RCV003032874]	uncertain significance	16	575883	575883	Human	2	name
156313950	CV2196575	single nucleotide variant	NM_004204.5(PIGQ):c.745C>A (p.Gln249Lys)	Inborn genetic diseases [RCV002648418]	uncertain significance	16	575894	575894	Human	1	name
155923818	CV2212411	single nucleotide variant	NM_004204.5(PIGQ):c.470C>G (p.Ala157Gly)	Inborn genetic diseases [RCV002727813]	uncertain significance	16	574544	574544	Human	1	name
156317080	CV2251000	single nucleotide variant	NM_004204.5(PIGQ):c.352C>G (p.Pro118Ala)	Inborn genetic diseases [RCV002809643]	uncertain significance	16	574426	574426	Human	1	name
155988249	CV2259549	single nucleotide variant	NM_004204.5(PIGQ):c.889C>T (p.His297Tyr)	Inborn genetic diseases [RCV002793449]	uncertain significance	16	576201	576201	Human	1	name
156257779	CV2277687	single nucleotide variant	NM_004204.5(PIGQ):c.572G>A (p.Trp191Ter)	Inborn genetic diseases [RCV002855222]	pathogenic	16	574646	574646	Human	1	name
155940061	CV2294020	single nucleotide variant	NM_004204.5(PIGQ):c.386T>C (p.Ile129Thr)	Inborn genetic diseases [RCV002879520]	uncertain significance	16	574460	574460	Human	1	name
156174241	CV2326894	single nucleotide variant	NM_004204.5(PIGQ):c.773C>T (p.Thr258Met)	Inborn genetic diseases [RCV002916733]	uncertain significance	16	575922	575922	Human	1	name
243064038	CV2406158	deletion	NM_004204.5(PIGQ):c.1673del (p.Gly558fs)	Developmental and epileptic encephalopathy, 77 [RCV003142677]	uncertain significance	16	582959	582959	Human	1	name
401721327	CV2709917	single nucleotide variant	NM_004204.5(PIGQ):c.937G>A (p.Ala313Thr)	Inborn genetic diseases [RCV003267545]	uncertain significance	16	576249	576249	Human	1	name
401930165	CV2810706	single nucleotide variant	NM_004204.5(PIGQ):c.436G>A (p.Val146Ile)	not provided [RCV003390589]	uncertain significance	16	574510	574510	Human		name
402521420	CV3068284	single nucleotide variant	NM_004204.5(PIGQ):c.573G>A (p.Trp191Ter)	Epilepsy [RCV003647022]	pathogenic	16	574647	574647	Human	2	name
405123958	CV3126423	single nucleotide variant	NM_004204.5(PIGQ):c.758G>A (p.Arg253Gln)	Epilepsy [RCV003815175]	uncertain significance	16	575907	575907	Human	2	name
405779766	CV3372470	single nucleotide variant	NM_004204.5(PIGQ):c.983T>C (p.Met328Thr)	Inborn genetic diseases [RCV004503739]	uncertain significance	16	578419	578419	Human	1	name
407511889	CV3463501	single nucleotide variant	NM_004204.5(PIGQ):c.519G>T (p.Glu173Asp)	Inborn genetic diseases [RCV004648198]	uncertain significance	16	574593	574593	Human	1	name
597715913	CV3579597	single nucleotide variant	NM_004204.5(PIGQ):c.958C>A (p.Leu320Ile)	Inborn genetic diseases [RCV004959780]	uncertain significance	16	578394	578394	Human	1	name
597884603	CV3741318	single nucleotide variant	NM_004204.5(PIGQ):c.961C>T (p.Gln321Ter)	Epilepsy [RCV005070225]	pathogenic	16	578397	578397	Human	2	name
597934421	CV3858780	single nucleotide variant	NM_004204.5(PIGQ):c.886C>T (p.Leu296Phe)	Epilepsy [RCV005207250]	uncertain significance	16	576198	576198	Human	2	name
598176230	CV3891159	duplication	NM_004204.5(PIGQ):c.1092dup (p.Phe365fs)	Developmental and epileptic encephalopathy, 77 [RCV005252012]	likely pathogenic	16	578802	578803	Human	1	name
598272083	CV4006511	single nucleotide variant	NM_004204.5(PIGQ):c.401G>A (p.Arg134His)	Inborn genetic diseases [RCV005389307]	uncertain significance	16	574475	574475	Human	1	name
13498494	CV465789	single nucleotide variant	NM_004204.5(PIGQ):c.322G>A (p.Glu108Lys)	Developmental and epileptic encephalopathy, 77 [RCV005231023]\|Epilepsy [RCV000539259]	benign	16	574396	574396	Human	3	name
13464880	CV465790	single nucleotide variant	NM_004204.5(PIGQ):c.400C>T (p.Arg134Cys)	Epilepsy [RCV000542483]\|not provided [RCV003333992]	uncertain significance	16	574474	574474	Human	2	name
13496384	CV465791	single nucleotide variant	NM_004204.5(PIGQ):c.620G>A (p.Arg207Gln)	Epilepsy [RCV000560318]\|not provided [RCV004568727]	benign	16	574694	574694	Human	2	name
13468661	CV465793	single nucleotide variant	NM_004204.5(PIGQ):c.892G>A (p.Gly298Arg)	Epilepsy [RCV000544645]	uncertain significance	16	576204	576204	Human	2	name
13504561	CV466505	single nucleotide variant	NM_004204.5(PIGQ):c.350C>T (p.Ala117Val)	Developmental and epileptic encephalopathy, 77 [RCV003224316]\|Epilepsy [RCV000532331]\|Inborn genetic diseases [RCV002528302]\|PIGQ-related disorder [RCV004735595]\|not provided [RCV002510912]	benign\|likely benign	16	574424	574424	Human	4	name , trait , alternate_id
13482852	CV466533	single nucleotide variant	NM_004204.5(PIGQ):c.473G>A (p.Ser158Asn)	Epilepsy [RCV000552038]	uncertain significance	16	574547	574547	Human	2	name
13484445	CV466534	single nucleotide variant	NM_004204.5(PIGQ):c.556G>A (p.Val186Met)	Epilepsy [RCV000530335]	uncertain significance	16	574630	574630	Human	2	name
13469230	CV466775	single nucleotide variant	NM_004204.5(PIGQ):c.613G>T (p.Ala205Ser)	Epilepsy [RCV000545078]\|Inborn genetic diseases [RCV003258855]	uncertain significance	16	574687	574687	Human	3	name
13612524	CV530075	single nucleotide variant	NM_004204.5(PIGQ):c.634A>C (p.Ile212Leu)	Epilepsy [RCV000630783]\|Inborn genetic diseases [RCV004025390]	uncertain significance	16	574708	574708	Human	3	name
13612733	CV530086	single nucleotide variant	NM_004204.5(PIGQ):c.752G>A (p.Arg251Gln)	Epilepsy [RCV000630797]\|Inborn genetic diseases [RCV004955723]\|PIGQ-related disorder [RCV003980217]	likely benign	16	575901	575901	Human	4	name , trait , alternate_id
13612506	CV530088	single nucleotide variant	NM_004204.5(PIGQ):c.885G>T (p.Trp295Cys)	Epilepsy [RCV000630777]	uncertain significance	16	576197	576197	Human	2	name
13612513	CV530191	single nucleotide variant	NM_004204.5(PIGQ):c.676G>A (p.Val226Ile)	Epilepsy [RCV000630779]\|Inborn genetic diseases [RCV004025389]	uncertain significance	16	574750	574750	Human	3	name
13612710	CV530194	single nucleotide variant	NM_004204.5(PIGQ):c.925C>G (p.Leu309Val)	Epilepsy [RCV000630793]\|PIGQ-related disorder [RCV003953108]\|not provided [RCV003392467]	likely benign	16	576237	576237	Human	3	name , trait , alternate_id
13612495	CV530385	single nucleotide variant	NM_004204.5(PIGQ):c.335G>A (p.Arg112Gln)	Epilepsy [RCV000630774]\|Inborn genetic diseases [RCV004955722]	uncertain significance	16	574409	574409	Human	3	name
13612530	CV530393	single nucleotide variant	NM_004204.5(PIGQ):c.689G>A (p.Arg230Gln)	Epilepsy [RCV000630785]	uncertain significance	16	574763	574763	Human	2	name
13612509	CV530616	single nucleotide variant	NM_004204.5(PIGQ):c.476C>T (p.Thr159Met)	Epilepsy [RCV000630778]	uncertain significance	16	574550	574550	Human	2	name
13807217	CV568200	single nucleotide variant	NM_004204.5(PIGQ):c.688C>T (p.Arg230Ter)	Epilepsy [RCV000700963]	pathogenic\|uncertain significance	16	574762	574762	Human	2	name
13803151	CV570311	single nucleotide variant	NM_004204.5(PIGQ):c.643C>G (p.Leu215Val)	Epilepsy [RCV000698905]	uncertain significance	16	574717	574717	Human	2	name
13821938	CV570333	single nucleotide variant	NM_004204.5(PIGQ):c.902G>A (p.Arg301His)	Epilepsy [RCV000696585]\|Inborn genetic diseases [RCV002533458]\|not provided [RCV003326491]	uncertain significance	16	576214	576214	Human	3	name
13809455	CV570335	single nucleotide variant	NM_004204.5(PIGQ):c.919G>A (p.Asp307Asn)	Epilepsy [RCV000702138]\|Inborn genetic diseases [RCV002533647]	uncertain significance	16	576231	576231	Human	3	name
14718105	CV644779	single nucleotide variant	NM_004204.5(PIGQ):c.341C>T (p.Ala114Val)	Epilepsy [RCV000812115]	uncertain significance	16	574415	574415	Human	2	name
14741223	CV644780	single nucleotide variant	NM_004204.5(PIGQ):c.355G>A (p.Gly119Ser)	Epilepsy [RCV000822148]\|Inborn genetic diseases [RCV004958174]\|not provided [RCV002292586]	likely benign\|uncertain significance	16	574429	574429	Human	3	name
14706818	CV644781	single nucleotide variant	NM_004204.5(PIGQ):c.422T>C (p.Leu141Pro)	Epilepsy [RCV000808558]\|Inborn genetic diseases [RCV002537290]	uncertain significance	16	574496	574496	Human	3	name
14719842	CV644782	single nucleotide variant	NM_004204.5(PIGQ):c.499G>A (p.Asp167Asn)	Epilepsy [RCV000812781]\|Inborn genetic diseases [RCV002537379]	uncertain significance	16	574573	574573	Human	3	name
14744254	CV644783	single nucleotide variant	NM_004204.5(PIGQ):c.527T>C (p.Phe176Ser)	Epilepsy [RCV000823995]	uncertain significance	16	574601	574601	Human	2	name
14733959	CV644784	single nucleotide variant	NM_004204.5(PIGQ):c.529C>T (p.Arg177Cys)	Epilepsy [RCV000818917]	uncertain significance	16	574603	574603	Human	2	name
14715793	CV644785	single nucleotide variant	NM_004204.5(PIGQ):c.604G>A (p.Ala202Thr)	Epilepsy [RCV000794907]\|Inborn genetic diseases [RCV003353024]\|not provided [RCV001772049]	uncertain significance	16	574678	574678	Human	3	name
14740620	CV644786	single nucleotide variant	NM_004204.5(PIGQ):c.605C>T (p.Ala202Val)	Epilepsy [RCV000821876]\|Inborn genetic diseases [RCV005392454]	likely benign\|uncertain significance	16	574679	574679	Human	3	name
14712071	CV644788	single nucleotide variant	NM_004204.5(PIGQ):c.721G>A (p.Gly241Arg)	Epilepsy [RCV000793681]	uncertain significance	16	575870	575870	Human	2	name
14729980	CV644789	single nucleotide variant	NM_004204.5(PIGQ):c.737C>T (p.Thr246Met)	Epilepsy [RCV000817180]	uncertain significance	16	575886	575886	Human	2	name
14741642	CV644790	single nucleotide variant	NM_004204.5(PIGQ):c.832A>G (p.Thr278Ala)	Epilepsy [RCV000805867]	uncertain significance	16	576144	576144	Human	2	name
14714366	CV644791	single nucleotide variant	NM_004204.5(PIGQ):c.874C>G (p.Leu292Val)	Epilepsy [RCV000810870]	uncertain significance	16	576186	576186	Human	2	name
14714785	CV644792	single nucleotide variant	NM_004204.5(PIGQ):c.907G>A (p.Gly303Arg)	Epilepsy [RCV000794552]	uncertain significance	16	576219	576219	Human	2	name
26918966	CV844036	single nucleotide variant	NM_004204.5(PIGQ):c.445G>A (p.Asp149Asn)	Epilepsy [RCV001044611]\|not provided [RCV004693498]	uncertain significance	16	574519	574519	Human	2	name
26919858	CV844037	single nucleotide variant	NM_004204.5(PIGQ):c.512G>A (p.Arg171His)	Epilepsy [RCV001046514]\|Inborn genetic diseases [RCV003283892]\|not provided [RCV001664641]	uncertain significance	16	574586	574586	Human	3	name
26886520	CV844038	single nucleotide variant	NM_004204.5(PIGQ):c.794A>G (p.Lys265Arg)	Epilepsy [RCV001055080]\|Inborn genetic diseases [RCV005394692]	uncertain significance	16	575943	575943	Human	3	name
26921691	CV844039	single nucleotide variant	NM_004204.5(PIGQ):c.805C>T (p.Pro269Ser)	Epilepsy [RCV001050516]\|Inborn genetic diseases [RCV005384924]	likely benign\|uncertain significance	16	575954	575954	Human	3	name
26887799	CV844043	single nucleotide variant	NM_004204.5(PIGQ):c.946G>A (p.Val316Met)	Epilepsy [RCV001056806]	uncertain significance	16	578382	578382	Human	2	name
38480311	CV927874	single nucleotide variant	NM_004204.5(PIGQ):c.586G>A (p.Val196Met)	Epilepsy [RCV001217484]\|Inborn genetic diseases [RCV002562977]	uncertain significance	16	574660	574660	Human	3	name
38483620	CV927875	single nucleotide variant	NM_004204.5(PIGQ):c.913C>G (p.Leu305Val)	Developmental and epileptic encephalopathy, 77 [RCV005394831]\|Epilepsy [RCV001219029]\|Inborn genetic diseases [RCV002562468]	uncertain significance	16	576225	576225	Human	4	name
38456293	CV937506	single nucleotide variant	NM_004204.5(PIGQ):c.856G>A (p.Val286Met)	Epilepsy [RCV001210772]	uncertain significance	16	576168	576168	Human	2	name
38457166	CV937507	single nucleotide variant	NM_004204.5(PIGQ):c.872T>C (p.Met291Thr)	Epilepsy [RCV001211046]	uncertain significance	16	576184	576184	Human	2	name
39458150	CV949446	single nucleotide variant	NM_004204.5(PIGQ):c.334C>T (p.Arg112Trp)	Epilepsy [RCV001257261]	uncertain significance	16	574408	574408	Human	2	name
38499824	CV957816	single nucleotide variant	NM_004204.5(PIGQ):c.412C>G (p.Leu138Val)	Epilepsy [RCV001245136]	uncertain significance	16	574486	574486	Human	2	name
126758628	CV997002	single nucleotide variant	NM_004204.5(PIGQ):c.530G>A (p.Arg177His)	Developmental and epileptic encephalopathy, 77 [RCV004727096]\|Epilepsy [RCV001299244]	likely benign\|uncertain significance	16	574604	574604	Human	3	name
126725271	CV997003	single nucleotide variant	NM_004204.5(PIGQ):c.618G>C (p.Arg206Ser)	Developmental and epileptic encephalopathy, 77 [RCV003483811]\|Epilepsy [RCV001302514]	uncertain significance\|not provided	16	574692	574692	Human	3	name
126743602	CV997004	single nucleotide variant	NM_004204.5(PIGQ):c.719T>C (p.Leu240Pro)	Epilepsy [RCV001305723]	uncertain significance	16	575868	575868	Human	2	name
126752608	CV1012279	single nucleotide variant	NM_004204.5(PIGQ):c.1513C>T (p.Arg505Trp)	Epilepsy [RCV001316350]	uncertain significance	16	580954	580954	Human	2	name
126772610	CV1012280	single nucleotide variant	NM_004204.5(PIGQ):c.1560C>G (p.His520Gln)	Epilepsy [RCV001323858]	uncertain significance	16	582276	582276	Human	2	name
126735034	CV1012281	single nucleotide variant	NM_004204.5(PIGQ):c.1580G>A (p.Arg527His)	Epilepsy [RCV001313668]	uncertain significance	16	582296	582296	Human	2	name
126738875	CV1012282	single nucleotide variant	NM_004204.5(PIGQ):c.1640C>G (p.Pro547Arg)	Epilepsy [RCV001324978]	uncertain significance	16	582929	582929	Human	2	name
126747517	CV1012283	single nucleotide variant	NM_004204.5(PIGQ):c.1720A>G (p.Arg574Gly)	Epilepsy [RCV001315359]	uncertain significance	16	583009	583009	Human	2	name
126745108	CV1032759	single nucleotide variant	NM_004204.5(PIGQ):c.1528G>T (p.Ala510Ser)	Epilepsy [RCV001337167]	uncertain significance	16	580969	580969	Human	2	name
126759698	CV1032760	single nucleotide variant	NM_004204.5(PIGQ):c.1547G>A (p.Arg516His)	Epilepsy [RCV001340206]\|not provided [RCV004692591]	uncertain significance	16	582263	582263	Human	2	name
126921777	CV1049716	single nucleotide variant	NM_004204.5(PIGQ):c.1096G>A (p.Val366Met)	Epilepsy [RCV001363890]	uncertain significance	16	578811	578811	Human	2	name
126915626	CV1049717	single nucleotide variant	NM_004204.5(PIGQ):c.1162C>T (p.Leu388Phe)	Epilepsy [RCV001371028]	uncertain significance	16	578877	578877	Human	2	name
126923066	CV1049724	single nucleotide variant	NM_004204.5(PIGQ):c.1273C>T (p.Arg425Trp)	Epilepsy [RCV001365418]	uncertain significance	16	579118	579118	Human	2	name
126911338	CV1049740	single nucleotide variant	NM_004204.5(PIGQ):c.1561G>A (p.Glu521Lys)	Epilepsy [RCV001369165]	uncertain significance	16	582277	582277	Human	2	name
126920733	CV1049741	single nucleotide variant	NM_004204.5(PIGQ):c.1618G>A (p.Val540Met)	Epilepsy [RCV001373983]\|Inborn genetic diseases [RCV004952853]	uncertain significance	16	582907	582907	Human	3	name
127293511	CV1157771	single nucleotide variant	NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser)	Developmental and epileptic encephalopathy, 77 [RCV001544037]\|Epilepsy [RCV001511377]\|not provided [RCV001673073]	benign	16	582283	582283	Human	3	name
150547803	CV1292299	single nucleotide variant	NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg)	Developmental and epileptic encephalopathy, 77 [RCV001733884]	likely pathogenic	16	580192	580192	Human	1	name
150554619	CV1304335	single nucleotide variant	NM_004204.5(PIGQ):c.1036C>G (p.Arg346Gly)	Epilepsy [RCV003645901]\|not provided [RCV001771305]	uncertain significance	16	578472	578472	Human	2	name
151818087	CV1337560	single nucleotide variant	NM_004204.5(PIGQ):c.1306G>A (p.Val436Met)	Epilepsy [RCV001919290]	uncertain significance	16	579151	579151	Human	2	name
151806142	CV1340183	single nucleotide variant	NM_004204.5(PIGQ):c.1173T>G (p.Ile391Met)	Epilepsy [RCV001867571]\|Inborn genetic diseases [RCV002550421]	uncertain significance	16	578888	578888	Human	3	name
151785385	CV1348779	single nucleotide variant	NM_004204.5(PIGQ):c.1529C>T (p.Ala510Val)	Epilepsy [RCV001897632]	uncertain significance	16	580970	580970	Human	2	name
151783077	CV1350136	single nucleotide variant	NM_004204.5(PIGQ):c.1435G>A (p.Ala479Thr)	Epilepsy [RCV001989312]	uncertain significance	16	580876	580876	Human	2	name
151792837	CV1354483	single nucleotide variant	NM_004204.5(PIGQ):c.1397A>G (p.Tyr466Cys)	Epilepsy [RCV001876669]	uncertain significance	16	580244	580244	Human	2	name
151824848	CV1354503	single nucleotide variant	NM_004204.5(PIGQ):c.1564G>T (p.Ala522Ser)	Epilepsy [RCV001869968]	uncertain significance	16	582280	582280	Human	2	name
151756297	CV1365622	single nucleotide variant	NM_004204.5(PIGQ):c.1011C>G (p.Asn337Lys)	Epilepsy [RCV001872747]	uncertain significance	16	578447	578447	Human	2	name
151808821	CV1374765	single nucleotide variant	NM_004204.5(PIGQ):c.1511G>A (p.Cys504Tyr)	Epilepsy [RCV001932992]	uncertain significance	16	580952	580952	Human	2	name
151865635	CV1381126	single nucleotide variant	NM_004204.5(PIGQ):c.1616G>T (p.Arg539Leu)	Epilepsy [RCV002018302]	uncertain significance	16	582905	582905	Human	2	name
151742035	CV1390795	single nucleotide variant	NM_004204.5(PIGQ):c.1160T>G (p.Leu387Arg)	Epilepsy [RCV001985330]	uncertain significance	16	578875	578875	Human	2	name
151854424	CV1390872	single nucleotide variant	NM_004204.5(PIGQ):c.1097T>C (p.Val366Ala)	Epilepsy [RCV001958413]	uncertain significance	16	578812	578812	Human	2	name
151833612	CV1396376	single nucleotide variant	NM_004204.5(PIGQ):c.1154T>C (p.Leu385Pro)	Epilepsy [RCV001902052]	uncertain significance	16	578869	578869	Human	2	name
151889377	CV1398791	single nucleotide variant	NM_004204.5(PIGQ):c.1024C>T (p.Gln342Ter)	Epilepsy [RCV001942790]	pathogenic	16	578460	578460	Human	2	name
151860815	CV1400333	single nucleotide variant	NM_004204.5(PIGQ):c.1616G>A (p.Arg539His)	Epilepsy [RCV001980098]	uncertain significance	16	582905	582905	Human	2	name
151773827	CV1414616	deletion	NM_004204.5(PIGQ):c.91_106del (p.Val31fs)	Epilepsy [RCV001874706]	pathogenic	16	574163	574178	Human	2	name
151721231	CV1420991	single nucleotide variant	NM_004204.5(PIGQ):c.1520A>G (p.Tyr507Cys)	Epilepsy [RCV002040109]	uncertain significance	16	580961	580961	Human	2	name
151850631	CV1450398	single nucleotide variant	NM_004204.5(PIGQ):c.1106T>C (p.Ile369Thr)	Epilepsy [RCV001922730]	uncertain significance	16	578821	578821	Human	2	name
151847416	CV1461769	single nucleotide variant	NM_004204.5(PIGQ):c.1244A>G (p.His415Arg)	Epilepsy [RCV001936896]	uncertain significance	16	579089	579089	Human	2	name
151876115	CV1466946	single nucleotide variant	NM_004204.5(PIGQ):c.1549G>A (p.Val517Ile)	Epilepsy [RCV001885879]	uncertain significance	16	582265	582265	Human	2	name
151891208	CV1473368	single nucleotide variant	NM_004204.5(PIGQ):c.1579C>T (p.Arg527Cys)	Epilepsy [RCV001888638]	uncertain significance	16	582295	582295	Human	2	name
151883834	CV1476745	single nucleotide variant	NM_004204.5(PIGQ):c.1012C>A (p.Arg338Ser)	Epilepsy [RCV001887021]	uncertain significance	16	578448	578448	Human	2	name
151889514	CV1479703	single nucleotide variant	NM_004204.5(PIGQ):c.1669T>G (p.Trp557Gly)	Epilepsy [RCV001888195]	uncertain significance	16	582958	582958	Human	2	name
151809572	CV1497085	single nucleotide variant	NM_004204.5(PIGQ):c.1696C>T (p.Leu566Phe)	Epilepsy [RCV001974641]	uncertain significance	16	582985	582985	Human	2	name
151760488	CV1500049	single nucleotide variant	NM_004204.5(PIGQ):c.1088C>A (p.Ser363Tyr)	Epilepsy [RCV001895251]\|not provided [RCV002290787]	uncertain significance	16	578803	578803	Human	2	name
151820989	CV1510673	single nucleotide variant	NM_004204.5(PIGQ):c.1069A>G (p.Ser357Gly)	Epilepsy [RCV001934142]	uncertain significance	16	578505	578505	Human	2	name
152166822	CV1666427	single nucleotide variant	NM_004204.5(PIGQ):c.1012C>G (p.Arg338Gly)	Developmental and epileptic encephalopathy, 77 [RCV002204534]\|Epilepsy [RCV003101219]	uncertain significance	16	578448	578448	Human	3	name
155644193	CV1706983	single nucleotide variant	NM_004204.5(PIGQ):c.1184T>A (p.Leu395His)	not provided [RCV002290938]	uncertain significance	16	578899	578899	Human		name
155704410	CV1771269	single nucleotide variant	NM_004204.5(PIGQ):c.1139G>A (p.Gly380Asp)	Epilepsy [RCV002295768]	uncertain significance	16	578854	578854	Human	2	name
156362070	CV1881310	single nucleotide variant	NM_004204.5(PIGQ):c.1457T>G (p.Leu486Arg)	Epilepsy [RCV003065687]	uncertain significance	16	580898	580898	Human	2	name
155973324	CV1889698	single nucleotide variant	NM_004204.5(PIGQ):c.1684C>T (p.Arg562Cys)	Epilepsy [RCV003075285]\|not provided [RCV005242301]	uncertain significance	16	582973	582973	Human	2	name
156296722	CV1894380	single nucleotide variant	NM_004204.5(PIGQ):c.1406T>C (p.Val469Ala)	Epilepsy [RCV003087724]	uncertain significance	16	580253	580253	Human	2	name
156092534	CV1895672	single nucleotide variant	NM_004204.5(PIGQ):c.1007T>G (p.Met336Arg)	Epilepsy [RCV003080277]	uncertain significance	16	578443	578443	Human	2	name
156168647	CV1904024	single nucleotide variant	NM_004204.5(PIGQ):c.1529C>A (p.Ala510Glu)	Epilepsy [RCV003083158]\|Inborn genetic diseases [RCV004654136]	uncertain significance	16	580970	580970	Human	3	name
156416311	CV1904890	inversion	NM_004204.5(PIGQ):c.40_41inv (p.Thr14Val)	Epilepsy [RCV002610103]	uncertain significance	16	574114	574115	Human		name
156216807	CV1910672	single nucleotide variant	NM_004204.5(PIGQ):c.1636C>T (p.Leu546Phe)	Epilepsy [RCV002596297]	uncertain significance	16	582925	582925	Human	2	name
156262206	CV1913612	single nucleotide variant	NM_004204.5(PIGQ):c.1621G>A (p.Val541Met)	Epilepsy [RCV002627803]	uncertain significance	16	582910	582910	Human	2	name
156096119	CV1920401	single nucleotide variant	NM_004204.5(PIGQ):c.1547G>C (p.Arg516Pro)	Epilepsy [RCV002592094]	uncertain significance	16	582263	582263	Human	2	name
155943740	CV1921009	single nucleotide variant	NM_004204.5(PIGQ):c.1127C>T (p.Ser376Leu)	Epilepsy [RCV002615807]	uncertain significance	16	578842	578842	Human	2	name
156172988	CV1930268	single nucleotide variant	NM_004204.5(PIGQ):c.1417C>G (p.Leu473Val)	Epilepsy [RCV002624773]	uncertain significance	16	580858	580858	Human	2	name
156448520	CV1950803	single nucleotide variant	NM_004204.5(PIGQ):c.1429G>A (p.Val477Met)	Epilepsy [RCV003120082]	uncertain significance	16	580870	580870	Human	2	name
156390596	CV1996230	single nucleotide variant	NM_004204.5(PIGQ):c.1133G>C (p.Cys378Ser)	Epilepsy [RCV002654341]	uncertain significance	16	578848	578848	Human	2	name
156093807	CV2012686	single nucleotide variant	NM_004204.5(PIGQ):c.1015G>A (p.Ala339Thr)	Epilepsy [RCV002706411]	uncertain significance	16	578451	578451	Human	2	name
156123765	CV2021079	single nucleotide variant	NM_004204.5(PIGQ):c.1487T>A (p.Leu496Gln)	Epilepsy [RCV002740300]	uncertain significance	16	580928	580928	Human	2	name
155960172	CV2023560	single nucleotide variant	NM_004204.5(PIGQ):c.1453C>T (p.His485Tyr)	Epilepsy [RCV002731136]	uncertain significance	16	580894	580894	Human	2	name
155996461	CV2064065	single nucleotide variant	NM_004204.5(PIGQ):c.1736A>G (p.Lys579Arg)	Epilepsy [RCV002843205]	uncertain significance	16	583025	583025	Human	2	name
156007638	CV2064975	single nucleotide variant	NM_004204.5(PIGQ):c.1639C>A (p.Pro547Thr)	Epilepsy [RCV002843702]	uncertain significance	16	582928	582928	Human	2	name
156127045	CV2104211	single nucleotide variant	NM_004204.5(PIGQ):c.1072T>C (p.Tyr358His)	Epilepsy [RCV002914401]	uncertain significance	16	578787	578787	Human	2	name
156251251	CV2116956	single nucleotide variant	NM_004204.5(PIGQ):c.1723C>T (p.Gln575Ter)	Epilepsy [RCV002933556]	uncertain significance	16	583012	583012	Human	2	name
156131939	CV2121632	single nucleotide variant	NM_004204.5(PIGQ):c.1178C>T (p.Ala393Val)	Epilepsy [RCV002953911]	uncertain significance	16	578893	578893	Human	2	name
156009521	CV2126784	single nucleotide variant	NM_004204.5(PIGQ):c.1213T>C (p.Tyr405His)	Epilepsy [RCV002975570]	uncertain significance	16	578928	578928	Human	2	name
155973184	CV2148795	single nucleotide variant	NM_004204.5(PIGQ):c.1685G>T (p.Arg562Leu)	Epilepsy [RCV003016032]	uncertain significance	16	582974	582974	Human	2	name
155952971	CV2161413	single nucleotide variant	NM_004204.5(PIGQ):c.1571G>C (p.Arg524Thr)	Epilepsy [RCV003032536]	uncertain significance	16	582287	582287	Human	2	name
156068105	CV2167077	single nucleotide variant	NM_004204.5(PIGQ):c.1690C>G (p.Leu564Val)	Epilepsy [RCV003019953]	uncertain significance	16	582979	582979	Human	2	name
156068803	CV2176261	single nucleotide variant	NM_004204.5(PIGQ):c.1388C>T (p.Thr463Ile)	Epilepsy [RCV003053653]	uncertain significance	16	580235	580235	Human	2	name
156362993	CV2180599	single nucleotide variant	NM_004204.5(PIGQ):c.1324G>A (p.Asp442Asn)	Epilepsy [RCV003049153]	uncertain significance	16	579169	579169	Human	2	name
156329715	CV2180879	single nucleotide variant	NM_004204.5(PIGQ):c.1210G>T (p.Val404Phe)	Epilepsy [RCV003047138]	uncertain significance	16	578925	578925	Human	2	name
156321796	CV2182773	single nucleotide variant	NM_004204.5(PIGQ):c.1521C>G (p.Tyr507Ter)	Epilepsy [RCV003046658]	pathogenic	16	580962	580962	Human	2	name
156054654	CV2326522	single nucleotide variant	NM_004204.5(PIGQ):c.1511G>T (p.Cys504Phe)	Inborn genetic diseases [RCV002950305]	uncertain significance	16	580952	580952	Human	1	name
243055339	CV2406159	single nucleotide variant	NM_004204.5(PIGQ):c.1556G>C (p.Arg519Pro)	Developmental and epileptic encephalopathy, 77 [RCV003131963]	uncertain significance	16	582272	582272	Human	1	name
401934945	CV2800815	single nucleotide variant	NM_004204.5(PIGQ):c.1215T>G (p.Tyr405Ter)	PIGQ-related disorder [RCV003412383]	likely pathogenic	16	578930	578930	Human		name , trait , alternate_id
401930167	CV2810709	single nucleotide variant	NM_004204.5(PIGQ):c.1714C>T (p.Pro572Ser)	not provided [RCV003390590]	uncertain significance	16	583003	583003	Human		name
402516266	CV3007060	single nucleotide variant	NM_004204.5(PIGQ):c.1071C>G (p.Ser357Arg)	Epilepsy [RCV003646629]	uncertain significance	16	578786	578786	Human	2	name
405260889	CV3185962	single nucleotide variant	NM_004204.5(PIGQ):c.1412C>T (p.Thr471Ile)	not provided [RCV003885038]	uncertain significance	16	580259	580259	Human		name
405779760	CV3372469	single nucleotide variant	NM_004204.5(PIGQ):c.1229A>G (p.Tyr410Cys)	Inborn genetic diseases [RCV004503738]	uncertain significance	16	579074	579074	Human	1	name
407530662	CV3463502	single nucleotide variant	NM_004204.5(PIGQ):c.1721G>A (p.Arg574Lys)	Inborn genetic diseases [RCV004657175]	likely benign	16	583010	583010	Human	1	name
597715906	CV3579596	single nucleotide variant	NM_004204.5(PIGQ):c.1330G>A (p.Asp444Asn)	Inborn genetic diseases [RCV004959779]	uncertain significance	16	579175	579175	Human	1	name
597943894	CV3754877	single nucleotide variant	NM_004204.5(PIGQ):c.1522A>G (p.Arg508Gly)	Epilepsy [RCV005078066]	uncertain significance	16	580963	580963	Human	2	name
597927761	CV3816017	single nucleotide variant	NM_004204.5(PIGQ):c.1333C>T (p.Gln445Ter)	Epilepsy [RCV005156598]	pathogenic	16	579178	579178	Human	2	name
597903117	CV3845596	single nucleotide variant	NM_004204.5(PIGQ):c.1486C>A (p.Leu496Met)	Epilepsy [RCV005181406]	uncertain significance	16	580927	580927	Human	2	name
598272072	CV4006507	single nucleotide variant	NM_004204.5(PIGQ):c.1009A>C (p.Asn337His)	Inborn genetic diseases [RCV005389304]	uncertain significance	16	578445	578445	Human	1	name
598272077	CV4006509	single nucleotide variant	NM_004204.5(PIGQ):c.1019T>C (p.Leu340Pro)	Inborn genetic diseases [RCV005389305]	uncertain significance	16	578455	578455	Human	1	name
12906724	CV415507	single nucleotide variant	NM_004204.5(PIGQ):c.1592A>C (p.Gln531Pro)	not provided [RCV000489571]	uncertain significance	16	582308	582308	Human		name
13484039	CV465799	single nucleotide variant	NM_004204.5(PIGQ):c.1253C>G (p.Ser418Cys)	Epilepsy [RCV000530146]	likely benign	16	579098	579098	Human	2	name
13469058	CV465802	single nucleotide variant	NM_004204.5(PIGQ):c.1291G>A (p.Val431Ile)	Epilepsy [RCV000544898]\|Inborn genetic diseases [RCV004023744]\|not provided [RCV002060294]	likely benign\|uncertain significance	16	579136	579136	Human	3	name
13489081	CV465808	single nucleotide variant	NM_004204.5(PIGQ):c.1505G>A (p.Arg502Gln)	Developmental and epileptic encephalopathy, 77 [RCV005231021]\|Epilepsy [RCV000532728]\|PIGQ-related disorder [RCV003925580]\|not provided [RCV002263733]	likely benign\|uncertain significance	16	580946	580946	Human	3	name , trait , alternate_id
13465563	CV465812	single nucleotide variant	NM_004204.5(PIGQ):c.1514G>A (p.Arg505Gln)	Epilepsy [RCV000542907]	uncertain significance	16	580955	580955	Human	2	name
13480978	CV466515	single nucleotide variant	NM_004204.5(PIGQ):c.1568G>A (p.Gly523Asp)	Epilepsy [RCV000551218]\|PIGQ-related disorder [RCV003905326]\|not provided [RCV004715251]	benign	16	582284	582284	Human	3	name , trait , alternate_id
13492669	CV466543	single nucleotide variant	NM_004204.5(PIGQ):c.1517C>T (p.Pro506Leu)	Epilepsy [RCV000557604]	uncertain significance	16	580958	580958	Human	2	name
13493773	CV466790	single nucleotide variant	NM_004204.5(PIGQ):c.1546C>A (p.Arg516Ser)	Developmental and epileptic encephalopathy, 77 [RCV005231022]\|Epilepsy [RCV000535916]\|not provided [RCV003222017]	likely benign	16	582262	582262	Human	3	name
13612534	CV530093	single nucleotide variant	NM_004204.5(PIGQ):c.1302G>T (p.Gln434His)	Epilepsy [RCV000630787]	uncertain significance	16	579147	579147	Human	2	name
13612719	CV530097	single nucleotide variant	NM_004204.5(PIGQ):c.1615C>T (p.Arg539Cys)	Developmental and epileptic encephalopathy, 77 [RCV005231200]\|Epilepsy [RCV000630798]\|PIGQ-related disorder [RCV004735687]\|not provided [RCV004705728]	likely benign	16	582904	582904	Human	3	name , trait , alternate_id
13612497	CV530201	single nucleotide variant	NM_004204.5(PIGQ):c.1117G>A (p.Val373Met)	Developmental and epileptic encephalopathy, 77 [RCV005231199]\|Epilepsy [RCV000630775]\|Inborn genetic diseases [RCV002528844]\|not provided [RCV002060713]	conflicting interpretations of pathogenicity\|uncertain significance	16	578832	578832	Human	4	name
13612726	CV530203	single nucleotide variant	NM_004204.5(PIGQ):c.1274G>T (p.Arg425Leu)	Epilepsy [RCV000630801]	likely benign	16	579119	579119	Human	2	name
13612502	CV530204	single nucleotide variant	NM_004204.5(PIGQ):c.1685G>A (p.Arg562His)	Epilepsy [RCV000630776]\|Inborn genetic diseases [RCV004659130]	likely benign\|uncertain significance	16	582974	582974	Human	3	name
13612527	CV530404	single nucleotide variant	NM_004204.5(PIGQ):c.1487T>C (p.Leu496Pro)	Epilepsy [RCV000630784]\|Inborn genetic diseases [RCV004025391]	uncertain significance	16	580928	580928	Human	3	name
13612522	CV530410	single nucleotide variant	NM_004204.5(PIGQ):c.1571G>A (p.Arg524Lys)	Epilepsy [RCV000630782]\|PIGQ-related disorder [RCV003953107]	likely benign\|uncertain significance	16	582287	582287	Human	3	name , trait , alternate_id
13816224	CV568209	single nucleotide variant	NM_004204.5(PIGQ):c.1730G>A (p.Gly577Glu)	Epilepsy [RCV000692181]	uncertain significance	16	583019	583019	Human	2	name
13822548	CV570317	single nucleotide variant	NM_004204.5(PIGQ):c.1675G>A (p.Ala559Thr)	Epilepsy [RCV000697469]\|Inborn genetic diseases [RCV003243264]	uncertain significance	16	582964	582964	Human	3	name
13819321	CV570337	single nucleotide variant	NM_004204.5(PIGQ):c.1130C>T (p.Ala377Val)	Epilepsy [RCV000694259]	uncertain significance	16	578845	578845	Human	2	name
13822538	CV570343	single nucleotide variant	NM_004204.5(PIGQ):c.1438G>A (p.Val480Met)	Epilepsy [RCV000697455]\|Inborn genetic diseases [RCV002533487]\|not provided [RCV005250095]	uncertain significance	16	580879	580879	Human	3	name
13807826	CV570344	single nucleotide variant	NM_004204.5(PIGQ):c.1628C>G (p.Thr543Ser)	Epilepsy [RCV000686984]\|Inborn genetic diseases [RCV004026254]	likely benign\|uncertain significance	16	582917	582917	Human	3	name
13807511	CV570346	single nucleotide variant	NM_004204.5(PIGQ):c.1634G>A (p.Arg545His)	Epilepsy [RCV000686800]	uncertain significance	16	582923	582923	Human	2	name
13809131	CV574095	single nucleotide variant	NM_004204.5(PIGQ):c.1454A>G (p.His485Arg)	Epilepsy [RCV000687610]\|Inborn genetic diseases [RCV004026269]	uncertain significance	16	580895	580895	Human	3	name
13803353	CV574097	duplication	NM_004204.5(PIGQ):c.1631dup (p.Tyr544Ter)	Epilepsy [RCV000699180]	uncertain significance	16	582919	582920	Human	2	name
13827747	CV578533	single nucleotide variant	NM_004204.5(PIGQ):c.1345G>A (p.Gly449Arg)	not provided [RCV000714595]	uncertain significance	16	580192	580192	Human		name
14718393	CV644796	single nucleotide variant	NM_004204.5(PIGQ):c.1113G>A (p.Trp371Ter)	Epilepsy [RCV000795788]	pathogenic\|uncertain significance	16	578828	578828	Human	2	name
14710728	CV644797	single nucleotide variant	NM_004204.5(PIGQ):c.1145C>T (p.Thr382Met)	Epilepsy [RCV000809697]	uncertain significance	16	578860	578860	Human	2	name
14722349	CV644798	single nucleotide variant	NM_004204.5(PIGQ):c.1177G>A (p.Ala393Thr)	Epilepsy [RCV000797521]	uncertain significance	16	578892	578892	Human	2	name
14727599	CV644799	single nucleotide variant	NM_004204.5(PIGQ):c.1504C>T (p.Arg502Trp)	Epilepsy [RCV000799710]	uncertain significance	16	580945	580945	Human	2	name
14728811	CV644801	single nucleotide variant	NM_004204.5(PIGQ):c.1546C>T (p.Arg516Cys)	Epilepsy [RCV000816701]\|not provided [RCV002293488]	uncertain significance	16	582262	582262	Human	2	name
14714799	CV644802	single nucleotide variant	NM_004204.5(PIGQ):c.1555C>T (p.Arg519Trp)	Epilepsy [RCV000794555]	uncertain significance	16	582271	582271	Human	2	name
14728302	CV644803	single nucleotide variant	NM_004204.5(PIGQ):c.1628C>T (p.Thr543Ile)	Epilepsy [RCV000816457]\|Inborn genetic diseases [RCV005384872]\|not provided [RCV002469298]	likely benign\|uncertain significance	16	582917	582917	Human	3	name
14715150	CV644804	single nucleotide variant	NM_004204.5(PIGQ):c.1717T>A (p.Trp573Arg)	Epilepsy [RCV000811132]	uncertain significance	16	583006	583006	Human	2	name
15144998	CV693905	single nucleotide variant	NM_004204.5(PIGQ):c.1556G>A (p.Arg519Gln)	Epilepsy [RCV000878310]	likely benign	16	582272	582272	Human	2	name
15200566	CV726717	single nucleotide variant	NM_004204.5(PIGQ):c.1501C>T (p.Leu501Phe)	Epilepsy [RCV000890948]\|PIGQ-related disorder [RCV003940678]\|not provided [RCV003235431]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	580942	580942	Human	3	name , trait , alternate_id
26920421	CV844049	single nucleotide variant	NM_004204.5(PIGQ):c.1210G>A (p.Val404Ile)	Epilepsy [RCV001047597]\|Inborn genetic diseases [RCV002553166]	uncertain significance	16	578925	578925	Human	3	name
26919961	CV844086	single nucleotide variant	NM_004204.5(PIGQ):c.1421G>A (p.Arg474Gln)	Epilepsy [RCV001046746]\|Inborn genetic diseases [RCV004958400]	uncertain significance	16	580862	580862	Human	3	name
26904119	CV844087	single nucleotide variant	NM_004204.5(PIGQ):c.1505G>T (p.Arg502Leu)	Epilepsy [RCV001070320]\|Inborn genetic diseases [RCV004960432]	uncertain significance	16	580946	580946	Human	3	name
26896250	CV844088	single nucleotide variant	NM_004204.5(PIGQ):c.1688A>G (p.Lys563Arg)	Epilepsy [RCV001064531]\|Inborn genetic diseases [RCV004030540]	likely benign\|uncertain significance	16	582977	582977	Human	3	name
26887185	CV844089	single nucleotide variant	NM_004204.5(PIGQ):c.1741G>A (p.Asp581Asn)	Epilepsy [RCV001055936]	uncertain significance	16	583030	583030	Human	2	name
38481967	CV927877	single nucleotide variant	NM_004204.5(PIGQ):c.1166C>T (p.Ser389Leu)	Epilepsy [RCV001218249]\|Inborn genetic diseases [RCV005384980]\|not provided [RCV004695203]	uncertain significance	16	578881	578881	Human	3	name
38476549	CV937511	single nucleotide variant	NM_004204.5(PIGQ):c.1258C>G (p.Leu420Val)	Epilepsy [RCV001204735]	uncertain significance	16	579103	579103	Human	2	name
38459298	CV937524	single nucleotide variant	NM_004204.5(PIGQ):c.1417C>T (p.Leu473Phe)	Epilepsy [RCV001211612]	uncertain significance	16	580858	580858	Human	2	name
38474092	CV937525	single nucleotide variant	NM_004204.5(PIGQ):c.1462G>A (p.Val488Met)	Epilepsy [RCV001203668]	uncertain significance	16	580903	580903	Human	2	name
38473930	CV937526	single nucleotide variant	NM_004204.5(PIGQ):c.1633C>T (p.Arg545Cys)	Epilepsy [RCV001203612]\|Inborn genetic diseases [RCV005384972]	uncertain significance	16	582922	582922	Human	3	name
38475767	CV949451	single nucleotide variant	NM_004204.5(PIGQ):c.1151C>T (p.Ala384Val)	Epilepsy [RCV001232771]	uncertain significance	16	578866	578866	Human	2	name
38497668	CV949457	single nucleotide variant	NM_004204.5(PIGQ):c.1256C>T (p.Ser419Leu)	Epilepsy [RCV001227233]\|Inborn genetic diseases [RCV004032597]	uncertain significance	16	579101	579101	Human	3	name
38482949	CV949474	single nucleotide variant	NM_004204.5(PIGQ):c.1382C>T (p.Pro461Leu)	Epilepsy [RCV001235725]\|Inborn genetic diseases [RCV002563836]	uncertain significance	16	580229	580229	Human	3	name
38457269	CV949475	single nucleotide variant	NM_004204.5(PIGQ):c.1537G>A (p.Val513Met)	Epilepsy [RCV001228606]	uncertain significance	16	582253	582253	Human	2	name
38456050	CV957830	single nucleotide variant	NM_004204.5(PIGQ):c.1430T>C (p.Val477Ala)	Epilepsy [RCV001245573]\|not provided [RCV002275324]	uncertain significance	16	580871	580871	Human	2	name
126726140	CV997031	single nucleotide variant	NM_004204.5(PIGQ):c.1370T>G (p.Leu457Arg)	Developmental and epileptic encephalopathy, 77 [RCV005251269]\|Epilepsy [RCV001302799]\|Inborn genetic diseases [RCV004036254]	likely pathogenic\|uncertain significance	16	580217	580217	Human	4	name
151839456	CV1364188	deletion	NM_004204.5(PIGQ):c.161_174del (p.Gln54fs)	Epilepsy [RCV001994558]	pathogenic	16	574235	574248	Human	2	name
151886262	CV1428815	microsatellite	NM_004204.5(PIGQ):c.733_734del (p.Ser245fs)	Epilepsy [RCV002037933]	pathogenic	16	575879	575880	Human		name
156104913	CV2038460	microsatellite	NM_004204.5(PIGQ):c.386TCT[1] (p.Phe130del)	Epilepsy [RCV002761456]	uncertain significance	16	574460	574462	Human		name
13531086	CV512217	deletion	NM_004204.5(PIGQ):c.968_969del (p.Leu323fs)	Developmental and epileptic encephalopathy, 77 [RCV000850140]\|Epilepsy [RCV000816707]\|Inborn genetic diseases [RCV000623033]	pathogenic\|uncertain significance	16	578404	578405	Human	4	name
151792289	CV1354281	microsatellite	NM_004204.5(PIGQ):c.1728_1729del (p.Asp578fs)	Epilepsy [RCV001876623]	uncertain significance	16	583013	583014	Human		name
243055338	CV2406157	deletion	NM_004204.5(PIGQ):c.1075_1085del (p.Ile359fs)	Developmental and epileptic encephalopathy, 77 [RCV003131962]	uncertain significance	16	578790	578800	Human	1	name
597870780	CV3799861	microsatellite	NM_004204.5(PIGQ):c.1165_1166del (p.Ser389fs)	Epilepsy [RCV005148275]	pathogenic	16	578877	578878	Human		name
41407729	CV983549	deletion	NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs)	Developmental and epileptic encephalopathy, 77 [RCV001290115]	pathogenic	16	582294	582295	Human	1	name
597902655	CV3804532	indel	NM_004204.5(PIGQ):c.39_40delinsCG (p.Thr14Ala)	Epilepsy [RCV005152967]	likely benign	16	574113	574114	Human		name
13471608	CV445592	deletion	NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del)	Developmental and epileptic encephalopathy, 77 [RCV000850141]\|Epilepsy [RCV001240418]\|Inborn genetic diseases [RCV000624078]\|not provided [RCV000518905]	pathogenic\|likely pathogenic\|uncertain significance	16	578912	578914	Human	4	name
13612518	CV530366	indel	NM_004204.5(PIGQ):c.39_40delinsAG (p.Thr14Ala)	Epilepsy [RCV000630781]	uncertain significance	16	574113	574114	Human		name
14721090	CV644795	inversion	NM_004204.5(PIGQ):c.1094_1095inv (p.Phe365Ter)	Epilepsy [RCV000813302]	uncertain significance	16	578809	578810	Human		name
155907769	CV2144534	indel	NM_004204.5(PIGQ):c.272_273delinsTT (p.Glu91Val)	Epilepsy [RCV003012030]	uncertain significance	16	574346	574347	Human		name
151851134	CV1349431	deletion	NM_004204.5(PIGQ):c.234_254del (p.Arg79_Gly85del)	Epilepsy [RCV001958004]	uncertain significance	16	574296	574316	Human	2	name
151826897	CV1467350	indel	NM_004204.5(PIGQ):c.643_644delinsAC (p.Leu215Thr)	Epilepsy [RCV001901415]	uncertain significance	16	574717	574718	Human		name
38461606	CV949447	indel	NM_004204.5(PIGQ):c.638_639delinsTT (p.Cys213Phe)	Epilepsy [RCV001229569]	uncertain significance	16	574712	574713	Human		name
405264377	CV3189934	deletion	NM_004204.5(PIGQ):c.1134_1143del (p.Ala377_Cys378insTer)	Epilepsy [RCV005064742]\|PIGQ-related disorder [RCV003896979]	pathogenic\|likely pathogenic	16	578843	578852	Human	3	name , trait , alternate_id

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