Glul Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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265 records found for search term Glul

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11664611	CV277771	single nucleotide variant	NM_002065.6(GLUL):c.-680C>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000407566]	uncertain significance	1	182391989	182391989	Human	1	name
11588742	CV277776	single nucleotide variant	NM_002065.6(GLUL):c.-706C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000305418]	benign\|likely benign	1	182392015	182392015	Human	1	name
11594289	CV277777	single nucleotide variant	NM_002065.6(GLUL):c.-718G>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000357806]\|not provided [RCV004714703]	benign\|likely benign	1	182392027	182392027	Human	1	name
11645453	CV277780	single nucleotide variant	NM_002065.6(GLUL):c.-745C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000265662]	uncertain significance	1	182392054	182392054	Human	1	name
11588175	CV278666	single nucleotide variant	NM_002065.6(GLUL):c.-564C>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000301073]	uncertain significance	1	182391873	182391873	Human	1	name
11598565	CV278773	single nucleotide variant	NM_002065.6(GLUL):c.-486T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000407564]\|not provided [RCV004713549]	benign	1	182391795	182391795	Human	1	name
28886633	CV862905	single nucleotide variant	NM_002065.6(GLUL):c.-529G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098520]	uncertain significance	1	182391838	182391838	Human	1	name
28891705	CV862906	single nucleotide variant	NM_002065.6(GLUL):c.-778G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100280]	uncertain significance	1	182392087	182392087	Human	1	name
28891707	CV862907	single nucleotide variant	NM_002065.6(GLUL):c.-816C>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100281]	uncertain significance	1	182392125	182392125	Human	1	name
28891711	CV862908	single nucleotide variant	NM_002065.6(GLUL):c.-819G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100282]	uncertain significance	1	182392128	182392128	Human	1	name
11662798	CV277637	single nucleotide variant	NM_001033044.4(GLUL):c.-56C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000389571]	uncertain significance	1	182391721	182391721	Human	1	name
11593682	CV278664	single nucleotide variant	NM_001033044.4(GLUL):c.-43G>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000351304]\|not provided [RCV004714702]	benign	1	182391708	182391708	Human	1	name
28881156	CV862901	single nucleotide variant	NM_001033044.4(GLUL):c.-33C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096765]	uncertain significance	1	182391698	182391698	Human	1	name
28881157	CV862902	single nucleotide variant	NM_001033044.4(GLUL):c.-53T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096766]	uncertain significance	1	182391718	182391718	Human	1	name
28886623	CV862903	single nucleotide variant	NM_001033044.4(GLUL):c.-80G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098518]	uncertain significance	1	182391745	182391745	Human	1	name
11656760	CV277595	single nucleotide variant	NM_001033044.4(GLUL):c.*981T>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000335952]	uncertain significance	1	182383424	182383424	Human	1	name
11586292	CV277605	single nucleotide variant	NM_001033044.4(GLUL):c.*922A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000286812]\|not provided [RCV004710737]	likely benign	1	182383483	182383483	Human	1	name
11592510	CV277624	single nucleotide variant	NM_001033044.4(GLUL):c.*919A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000339448]\|not provided [RCV004714701]	benign	1	182383486	182383486	Human	1	name
11663118	CV277625	single nucleotide variant	NM_001033044.4(GLUL):c.*850T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000392503]	uncertain significance	1	182383555	182383555	Human	1	name
11581331	CV277745	single nucleotide variant	NM_001033044.4(GLUL):c.*687A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000365654]	uncertain significance	1	182383718	182383718	Human	1	name
11649231	CV277746	single nucleotide variant	NM_001033044.4(GLUL):c.*169G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000285878]	uncertain significance	1	182384236	182384236	Human	1	name
11635666	CV277755	duplication	NM_001033044.4(GLUL):c.*101dup	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000376711]	uncertain significance	1	182384303	182384304	Human	1	name
11587094	CV277770	single nucleotide variant	NM_001033044.4(GLUL):c.-110A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000292783]	uncertain significance	1	182391775	182391775	Human	1	name
11653100	CV278623	single nucleotide variant	NM_001033044.4(GLUL):c.*717T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000309044]	uncertain significance	1	182383688	182383688	Human	1	name
11655982	CV278633	single nucleotide variant	NM_001033044.4(GLUL):c.*399C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000329800]	uncertain significance	1	182384006	182384006	Human	1	name
11590162	CV278646	single nucleotide variant	NM_001033044.4(GLUL):c.*272C>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000316471]\|not provided [RCV004691162]	uncertain significance	1	182384133	182384133	Human	1	name
11655259	CV278648	single nucleotide variant	NM_001033044.4(GLUL):c.*129G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000324589]\|not provided [RCV004691163]	uncertain significance	1	182384276	182384276	Human	1	name
11593567	CV278665	single nucleotide variant	NM_001033044.4(GLUL):c.-125A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000349990]	likely benign	1	182391790	182391790	Human	1	name
11597295	CV278711	single nucleotide variant	NM_001033044.4(GLUL):c.*966A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000392472]	benign\|uncertain significance	1	182383439	182383439	Human	1	name
11635877	CV278712	duplication	NM_001033044.4(GLUL):c.*684dup	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000404792]	likely benign	1	182383720	182383721	Human	1	name
11660687	CV278721	single nucleotide variant	NM_001033044.4(GLUL):c.*481G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000369174]	uncertain significance	1	182383924	182383924	Human	1	name
11584884	CV278722	single nucleotide variant	NM_001033044.4(GLUL):c.*465A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000277036]\|not provided [RCV004710738]	likely benign	1	182383940	182383940	Human	1	name
11595237	CV278734	single nucleotide variant	NM_001033044.4(GLUL):c.*342T>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000368162]\|not provided [RCV004713545]	benign	1	182384063	182384063	Human	1	name
11644840	CV278735	single nucleotide variant	NM_001033044.4(GLUL):c.*305C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000261876]	uncertain significance	1	182384100	182384100	Human	1	name
11635625	CV278739	duplication	NM_001033044.4(GLUL):c.*248dup	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000373388]	uncertain significance	1	182384156	182384157	Human	1	name
28891198	CV862887	single nucleotide variant	NM_001033044.4(GLUL):c.*849C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100093]\|not provided [RCV004691363]	uncertain significance	1	182383556	182383556	Human	1	name
28891201	CV862888	single nucleotide variant	NM_001033044.4(GLUL):c.*722A>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100094]	uncertain significance	1	182383683	182383683	Human	1	name
28896134	CV862889	single nucleotide variant	NM_001033044.4(GLUL):c.*547C>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001102089]	benign	1	182383858	182383858	Human	1	name
28896138	CV862890	single nucleotide variant	NM_001033044.4(GLUL):c.*527G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001102090]	uncertain significance	1	182383878	182383878	Human	1	name
28880854	CV862891	single nucleotide variant	NM_001033044.4(GLUL):c.*306G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096676]	uncertain significance	1	182384099	182384099	Human	1	name
28880859	CV862892	single nucleotide variant	NM_001033044.4(GLUL):c.*297C>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096677]	uncertain significance	1	182384108	182384108	Human	1	name
28880864	CV862893	single nucleotide variant	NM_001033044.4(GLUL):c.*289G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096678]	uncertain significance	1	182384116	182384116	Human	1	name
28880869	CV862894	single nucleotide variant	NM_001033044.4(GLUL):c.*210T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096679]	uncertain significance	1	182384195	182384195	Human	1	name
28886630	CV862904	single nucleotide variant	NM_001033044.4(GLUL):c.-119G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098519]	uncertain significance	1	182391784	182391784	Human	1	name
150410759	CV1175788	single nucleotide variant	NM_001033044.4(GLUL):c.-13-2A>G	Developmental and epileptic encephalopathy 116 [RCV004998943]\|Developmental and epileptic encephalopathy, 16 [RCV004541990]\|Glutamine synthetase stabilization disorder [RCV003883691]\|not provided [RCV001546813]	pathogenic\|likely pathogenic\|uncertain significance	1	182388752	182388752	Human	2	name
151760085	CV1459366	single nucleotide variant	NM_001033044.4(GLUL):c.604-9C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002044169]	likely benign\|uncertain significance	1	182385565	182385565	Human	1	name
151784321	CV1492024	duplication	NM_001033044.4(GLUL):c.603+2dup	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002026562]	uncertain significance	1	182385757	182385758	Human	1	name
152122272	CV1541468	single nucleotide variant	NM_001033044.4(GLUL):c.604-5T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002175737]	likely benign	1	182385561	182385561	Human	1	name
152103772	CV1574672	single nucleotide variant	NM_001033044.4(GLUL):c.604-8G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002095873]	likely benign	1	182385564	182385564	Human	1	name
153348342	CV1695376	single nucleotide variant	NM_001033044.4(GLUL):c.604-2A>G	not provided [RCV002279895]	not provided	1	182385558	182385558	Human		name
153348343	CV1695377	single nucleotide variant	NM_001033044.4(GLUL):c.329-2A>G	not provided [RCV002279896]	not provided	1	182386404	182386404	Human		name
156239691	CV2188790	single nucleotide variant	NM_001033044.4(GLUL):c.475+9C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003059613]	likely benign	1	182386247	182386247	Human	1	name
156266156	CV2299368	single nucleotide variant	NM_001033044.4(GLUL):c.167-3C>T	GLUL-related disorder [RCV003953998]\|Inborn genetic diseases [RCV002855733]	likely benign\|uncertain significance	1	182387295	182387295	Human	2	name , trait , alternate_id
11593044	CV277506	single nucleotide variant	NM_001033044.4(GLUL):c.*2644G>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000344760]\|not provided [RCV004714697]	benign	1	182381761	182381761	Human	1	name
11659389	CV277509	single nucleotide variant	NM_001033044.4(GLUL):c.*2463C>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000357244]	uncertain significance	1	182381942	182381942	Human	1	name
11651434	CV277514	single nucleotide variant	NM_001033044.4(GLUL):c.*2313C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000298811]	uncertain significance	1	182382092	182382092	Human	1	name
11593943	CV277529	single nucleotide variant	NM_001033044.4(GLUL):c.*2307C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000353642]\|not provided [RCV004714699]	benign	1	182382098	182382098	Human	1	name
11645979	CV277538	single nucleotide variant	NM_001033044.4(GLUL):c.*2130T>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000268159]	uncertain significance	1	182382275	182382275	Human	1	name
11635639	CV277542	duplication	NM_001033044.4(GLUL):c.*2074dup	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000377798]	uncertain significance	1	182382330	182382331	Human	1	name
11591485	CV277543	single nucleotide variant	NM_001033044.4(GLUL):c.*2021G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000329439]	likely benign	1	182382384	182382384	Human	1	name
11586671	CV277545	single nucleotide variant	NM_001033044.4(GLUL):c.*1958G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000289722]	benign\|uncertain significance	1	182382447	182382447	Human	1	name
11593617	CV277558	single nucleotide variant	NM_001033044.4(GLUL):c.*1913A>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000350486]\|not provided [RCV004713544]	benign	1	182382492	182382492	Human	1	name
11651569	CV277566	single nucleotide variant	NM_001033044.4(GLUL):c.*1790C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000299277]	uncertain significance	1	182382615	182382615	Human	1	name
11594509	CV277583	single nucleotide variant	NM_001033044.4(GLUL):c.*1596G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000359999]	uncertain significance	1	182382809	182382809	Human	1	name
11594854	CV277589	single nucleotide variant	NM_001033044.4(GLUL):c.*1364G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000364034]	benign\|likely benign	1	182383041	182383041	Human	1	name
11596754	CV277593	single nucleotide variant	NM_001033044.4(GLUL):c.*1276C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000385987]	benign\|uncertain significance	1	182383129	182383129	Human	1	name
11587317	CV277594	single nucleotide variant	NM_001033044.4(GLUL):c.*1218G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000294019]	uncertain significance	1	182383187	182383187	Human	1	name
11581979	CV277700	single nucleotide variant	NM_001033044.4(GLUL):c.*2631G>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000392618]	uncertain significance	1	182381774	182381774	Human	1	name
11589929	CV277702	single nucleotide variant	NM_001033044.4(GLUL):c.*2631G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000314611]\|not provided [RCV004714698]	benign	1	182381774	182381774	Human	1	name
11598509	CV277718	single nucleotide variant	NM_001033044.4(GLUL):c.*2516A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000406296]	benign\|uncertain significance	1	182381889	182381889	Human	1	name
11583122	CV277719	single nucleotide variant	NM_001033044.4(GLUL):c.*2074G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000264616]	likely benign\|uncertain significance	1	182382331	182382331	Human	1	name
11662842	CV277729	single nucleotide variant	NM_001033044.4(GLUL):c.*1919A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000389681]	uncertain significance	1	182382486	182382486	Human	1	name
11592130	CV277736	single nucleotide variant	NM_001033044.4(GLUL):c.*1772C>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000335558]	uncertain significance	1	182382633	182382633	Human	1	name
11584815	CV277738	single nucleotide variant	NM_001033044.4(GLUL):c.*1357T>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000276482]	likely benign\|uncertain significance	1	182383048	182383048	Human	1	name
11658674	CV278609	single nucleotide variant	NM_001033044.4(GLUL):c.*2604C>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000350718]	uncertain significance	1	182381801	182381801	Human	1	name
11590883	CV278611	single nucleotide variant	NM_001033044.4(GLUL):c.*2118T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000323265]\|not provided [RCV004714700]	benign	1	182382287	182382287	Human	1	name
11596599	CV278615	single nucleotide variant	NM_001033044.4(GLUL):c.*1978G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000384018]	uncertain significance	1	182382427	182382427	Human	1	name
11657886	CV278617	single nucleotide variant	NM_001033044.4(GLUL):c.*1932T>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000344732]	uncertain significance	1	182382473	182382473	Human	1	name
11660318	CV278619	single nucleotide variant	NM_001033044.4(GLUL):c.*1510G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000365844]	uncertain significance	1	182382895	182382895	Human	1	name
11595855	CV278620	single nucleotide variant	NM_001033044.4(GLUL):c.*1057A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000375366]	uncertain significance	1	182383348	182383348	Human	1	name
11585101	CV278621	single nucleotide variant	NM_001033044.4(GLUL):c.*1033G>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000278521]	uncertain significance	1	182383372	182383372	Human	1	name
11589489	CV278673	single nucleotide variant	NM_001033044.4(GLUL):c.*2494G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000311173]	likely benign\|uncertain significance	1	182381911	182381911	Human	1	name
11582804	CV278686	single nucleotide variant	NM_001033044.4(GLUL):c.*2365G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000262413]	uncertain significance	1	182382040	182382040	Human	1	name
11598306	CV278687	single nucleotide variant	NM_001033044.4(GLUL):c.*1762A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000404013]	likely benign\|uncertain significance	1	182382643	182382643	Human	1	name
11652525	CV278695	single nucleotide variant	NM_001033044.4(GLUL):c.*1692A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000305145]	uncertain significance	1	182382713	182382713	Human	1	name
11591104	CV278699	single nucleotide variant	NM_001033044.4(GLUL):c.*1411C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000325714]	benign\|likely benign	1	182382994	182382994	Human	1	name
11590394	CV278709	single nucleotide variant	NM_001033044.4(GLUL):c.*1058G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000318560]	uncertain significance	1	182383347	182383347	Human	1	name
11580834	CV278742	single nucleotide variant	NM_001033044.4(GLUL):c.603+5G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000345806]\|GLUL-related disorder [RCV003930210]\|not provided [RCV001312112]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	182385755	182385755	Human	1	name , trait , alternate_id
405261899	CV2839766	single nucleotide variant	NM_001033044.4(GLUL):c.-13-1G>A	Developmental and epileptic encephalopathy, 16 [RCV004540681]\|Glutamine synthetase stabilization disorder [RCV003885348]	pathogenic\|likely pathogenic	1	182388751	182388751	Human	2	name
408365788	CV3510026	single nucleotide variant	NM_001033044.4(GLUL):c.167-6C>G	GLUL-related disorder [RCV004755263]	likely benign	1	182387298	182387298	Human		name , trait , alternate_id
597871382	CV3750036	single nucleotide variant	NM_001033044.4(GLUL):c.603+8T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005068717]	likely benign	1	182385752	182385752	Human	1	name
616938129	CV4015782	single nucleotide variant	NM_001033044.4(GLUL):c.-13-1G>C	Developmental and epileptic encephalopathy 116 [RCV005414314]	likely pathogenic	1	182388751	182388751	Human	1	name
28895653	CV862869	single nucleotide variant	NM_001033044.4(GLUL):c.*2691C>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001101902]	uncertain significance	1	182381714	182381714	Human	1	name
28880199	CV862870	single nucleotide variant	NM_001033044.4(GLUL):c.*2636C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096466]	uncertain significance	1	182381769	182381769	Human	1	name
28880203	CV862871	single nucleotide variant	NM_001033044.4(GLUL):c.*2571C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096467]	uncertain significance	1	182381834	182381834	Human	1	name
28880204	CV862872	single nucleotide variant	NM_001033044.4(GLUL):c.*2555G>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096468]	uncertain significance	1	182381850	182381850	Human	1	name
28885663	CV862873	single nucleotide variant	NM_001033044.4(GLUL):c.*2304T>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098216]	uncertain significance	1	182382101	182382101	Human	1	name
28885669	CV862874	single nucleotide variant	NM_001033044.4(GLUL):c.*2232C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098217]	uncertain significance	1	182382173	182382173	Human	1	name
28885673	CV862875	single nucleotide variant	NM_001033044.4(GLUL):c.*2203A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098218]	uncertain significance	1	182382202	182382202	Human	1	name
28890928	CV862876	single nucleotide variant	NM_001033044.4(GLUL):c.*2172C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001099986]	uncertain significance	1	182382233	182382233	Human	1	name
28890935	CV862877	single nucleotide variant	NM_001033044.4(GLUL):c.*2128C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001099987]	uncertain significance	1	182382277	182382277	Human	1	name
28890938	CV862878	single nucleotide variant	NM_001033044.4(GLUL):c.*1994G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001099988]	uncertain significance	1	182382411	182382411	Human	1	name
28895852	CV862879	single nucleotide variant	NM_001033044.4(GLUL):c.*1961G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001101980]	uncertain significance	1	182382444	182382444	Human	1	name
28895855	CV862880	single nucleotide variant	NM_001033044.4(GLUL):c.*1953C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001101981]	uncertain significance	1	182382452	182382452	Human	1	name
28880514	CV862881	single nucleotide variant	NM_001033044.4(GLUL):c.*1676T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096573]	uncertain significance	1	182382729	182382729	Human	1	name
28880516	CV862882	single nucleotide variant	NM_001033044.4(GLUL):c.*1646C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096574]	uncertain significance	1	182382759	182382759	Human	1	name
28880519	CV862883	single nucleotide variant	NM_001033044.4(GLUL):c.*1442A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096575]	uncertain significance	1	182382963	182382963	Human	1	name
28885956	CV862884	single nucleotide variant	NM_001033044.4(GLUL):c.*1340C>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098308]	benign	1	182383065	182383065	Human	1	name
28885960	CV862885	single nucleotide variant	NM_001033044.4(GLUL):c.*1289A>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098309]	uncertain significance	1	182383116	182383116	Human	1	name
28885966	CV862886	single nucleotide variant	NM_001033044.4(GLUL):c.*1281G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098310]	uncertain significance	1	182383124	182383124	Human	1	name
127320021	CV1153378	single nucleotide variant	NM_001033044.4(GLUL):c.328+19A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001522421]\|not provided [RCV001720296]	benign	1	182387112	182387112	Human	1	name
150510998	CV1210648	single nucleotide variant	NM_001033044.4(GLUL):c.475+71A>G	not provided [RCV001597827]	benign	1	182386185	182386185	Human		name
150465550	CV1218039	single nucleotide variant	NM_001033044.4(GLUL):c.603+45T>C	not provided [RCV001614165]	benign	1	182385715	182385715	Human		name
150438087	CV1248629	single nucleotide variant	NM_001033044.4(GLUL):c.476-24T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001702956]\|not provided [RCV001669239]	benign	1	182385911	182385911	Human	1	name
152070638	CV1570135	single nucleotide variant	NM_001033044.4(GLUL):c.328+16G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002191735]	likely benign	1	182387115	182387115	Human	1	name
152128043	CV1583703	single nucleotide variant	NM_001033044.4(GLUL):c.167-12T>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002198948]	likely benign	1	182387304	182387304	Human	1	name
152031299	CV1591062	single nucleotide variant	NM_001033044.4(GLUL):c.603+16A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002186665]	likely benign	1	182385744	182385744	Human	1	name
152174433	CV1601924	single nucleotide variant	NM_001033044.4(GLUL):c.166+12A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002144435]	likely benign	1	182388560	182388560	Human	1	name
152026036	CV1666166	single nucleotide variant	NM_001033044.4(GLUL):c.329-18A>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002084665]	likely benign	1	182386420	182386420	Human	1	name
156138713	CV2109728	single nucleotide variant	NM_001033044.4(GLUL):c.475+18A>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002928472]	likely benign	1	182386238	182386238	Human	1	name
156228397	CV2140806	single nucleotide variant	NM_001033044.4(GLUL):c.166+13T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003007648]	likely benign	1	182388559	182388559	Human	1	name
156119647	CV2174811	single nucleotide variant	NM_001033044.4(GLUL):c.603+16A>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003055416]	likely benign	1	182385744	182385744	Human	1	name
11649776	CV277767	deletion	NM_001033044.4(GLUL):c.-14+10del	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000289433]	uncertain significance	1	182391669	182391669	Human	1	name
11589018	CV278720	microsatellite	NM_001033044.4(GLUL):c.*492GA[2]	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000307524]	uncertain significance	1	182383908	182383909	Human		name
405056395	CV2989950	single nucleotide variant	NM_001033044.4(GLUL):c.329-20T>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003631838]	likely benign	1	182386422	182386422	Human	1	name
405064993	CV3057919	single nucleotide variant	NM_001033044.4(GLUL):c.476-10G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003632652]	likely benign	1	182385897	182385897	Human	1	name
405201157	CV3128989	single nucleotide variant	NM_001033044.4(GLUL):c.166+15T>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003822032]	likely benign	1	182388557	182388557	Human	1	name
405178598	CV3146957	single nucleotide variant	NM_001033044.4(GLUL):c.328+14C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003842053]	likely benign	1	182387117	182387117	Human	1	name
150477757	CV1218673	single nucleotide variant	NM_001033044.4(GLUL):c.166+154A>G	not provided [RCV001616300]	benign	1	182388418	182388418	Human		name
150494733	CV1224950	single nucleotide variant	NM_001033044.4(GLUL):c.-13-311G>C	not provided [RCV001619428]	benign	1	182389061	182389061	Human		name
150459512	CV1264028	single nucleotide variant	NM_001033044.4(GLUL):c.328+187T>G	not provided [RCV001681943]	benign	1	182386944	182386944	Human		name
11584345	CV277587	microsatellite	NM_001033044.4(GLUL):c.*1467GT[1]	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000273048]	likely benign	1	182382935	182382936	Human		name
11661522	CV277635	single nucleotide variant	NM_001033044.4(GLUL):c.-14+916C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000377405]	uncertain significance	1	182390763	182390763	Human	1	name
11591452	CV277636	single nucleotide variant	NM_001033044.4(GLUL):c.-14+892G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000329290]\|not provided [RCV004713548]	benign\|likely benign	1	182390787	182390787	Human	1	name
11594504	CV277765	single nucleotide variant	NM_001033044.4(GLUL):c.-14+958G>A	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000359942]\|not provided [RCV003417935]	likely benign\|uncertain significance	1	182390721	182390721	Human	1	name
11583543	CV277766	single nucleotide variant	NM_001033044.4(GLUL):c.-14+955C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000267624]\|not provided [RCV003333975]	likely benign\|uncertain significance	1	182390724	182390724	Human	1	name
11590555	CV278652	single nucleotide variant	NM_001033044.4(GLUL):c.-14+934C>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000320415]	uncertain significance	1	182390745	182390745	Human	1	name
11584202	CV278653	single nucleotide variant	NM_001033044.4(GLUL):c.-14+905T>C	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000271932]\|not provided [RCV004710739]	likely benign\|uncertain significance	1	182390774	182390774	Human	1	name
11587805	CV278748	single nucleotide variant	NM_001033044.4(GLUL):c.-14+997A>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000298020]\|not provided [RCV003417934]	likely benign\|uncertain significance	1	182390682	182390682	Human	1	name
401906312	CV2806224	single nucleotide variant	NM_001033044.4(GLUL):c.-14+913G>C	not provided [RCV003421258]	likely benign	1	182390766	182390766	Human		name
401906313	CV2806225	single nucleotide variant	NM_001033044.4(GLUL):c.-14+850G>A	not provided [RCV003421259]	likely benign	1	182390829	182390829	Human		name
597869752	CV3839286	microsatellite	NM_001033044.4(GLUL):c.328+7TA[3]	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005176397]	likely benign	1	182387120	182387121	Human		name
28896351	CV862899	single nucleotide variant	NM_001033044.4(GLUL):c.-14+998C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001102177]	uncertain significance	1	182390681	182390681	Human	1	name
28896354	CV862900	single nucleotide variant	NM_001033044.4(GLUL):c.-14+966C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001102178]	uncertain significance	1	182390713	182390713	Human	1	name
11588073	CV277634	single nucleotide variant	NM_001033044.4(GLUL):c.-14+1136G>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000300204]\|not provided [RCV004713547]	benign\|likely benign	1	182390543	182390543	Human	1	name
11594248	CV277764	single nucleotide variant	NM_001033044.4(GLUL):c.-14+1038C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000357465]	uncertain significance	1	182390641	182390641	Human	1	name
11656719	CV278668	microsatellite	NM_002065.6(GLUL):c.-675_-674TC[1]	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000335881]	uncertain significance	1	182391980	182391981	Human		name
11591923	CV278708	microsatellite	NM_001033044.4(GLUL):c.*1286ATT[1]	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000333793]	uncertain significance	1	182383114	182383116	Human		name
11582371	CV278747	single nucleotide variant	NM_001033044.4(GLUL):c.-14+1008C>G	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000259266]	uncertain significance	1	182390671	182390671	Human	1	name
598128589	CV3887794	single nucleotide variant	NM_001033044.4(GLUL):c.-14+1156C>T	not provided [RCV005243968]	likely benign	1	182390523	182390523	Human		name
28891445	CV862898	single nucleotide variant	NM_001033044.4(GLUL):c.-14+1168C>T	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100187]	likely benign	1	182390511	182390511	Human	1	name
11588272	CV278618	deletion	NM_001033044.4(GLUL):c.1563_1566del	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000301757]	uncertain significance	1	182382839	182382842	Human	1	name
11598245	CV278698	deletion	NM_001033044.4(GLUL):c.1594_1595del	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000403143]	uncertain significance	1	182382810	182382811	Human	1	name
150424638	CV1182814	single nucleotide variant	NM_001033044.4(GLUL):c.1A>G (p.Met1Val)	Developmental and epileptic encephalopathy 116 [RCV004782761]\|Developmental and epileptic encephalopathy, 16 [RCV004526131]\|Glutamine synthetase stabilization disorder [RCV003883693]\|not provided [RCV001556925]	pathogenic\|likely pathogenic\|uncertain significance	1	182388737	182388737	Human	2	name
150528306	CV1301835	single nucleotide variant	NM_001033044.4(GLUL):c.3G>A (p.Met1Ile)	Developmental and epileptic encephalopathy 116 [RCV004526144]\|GLUL-related disorder [RCV004731172]\|Glutamine related condition [RCV001788835]\|Glutamine synthetase stabilization disorder [RCV003883701]\|not provided [RCV001755207]	pathogenic\|likely pathogenic\|uncertain significance	1	182388735	182388735	Human	2	name , trait , alternate_id
152039908	CV1608727	single nucleotide variant	NM_001033044.4(GLUL):c.57C>T (p.Ser19=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002107583]	likely benign	1	182388681	182388681	Human	1	name
405261897	CV2839765	single nucleotide variant	NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)	Developmental and epileptic encephalopathy, 16 [RCV004526259]\|Glutamine synthetase stabilization disorder [RCV003885347]	pathogenic\|likely pathogenic	1	182388737	182388737	Human	2	name
12913219	CV421190	single nucleotide variant	NM_001033044.4(GLUL):c.1A>T (p.Met1Leu)	Developmental and epileptic encephalopathy, 16 [RCV004525945]\|Glutamine synthetase stabilization disorder [RCV003884568]\|not provided [RCV000493544]	pathogenic\|likely pathogenic	1	182388737	182388737	Human	2	name
156042587	CV2143535	single nucleotide variant	NM_001033044.4(GLUL):c.237C>T (p.Leu79=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002999586]\|GLUL-related disorder [RCV003926645]	likely benign	1	182387222	182387222	Human	1	name , trait , alternate_id
11582229	CV277633	single nucleotide variant	NM_001033044.4(GLUL):c.195T>C (p.Ser65=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000402945]\|not provided [RCV001683174]	benign	1	182387264	182387264	Human	1	name
405068206	CV3072220	single nucleotide variant	NM_001033044.4(GLUL):c.255T>C (p.Phe85=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003632922]	likely benign	1	182387204	182387204	Human	1	name
404978331	CV3127389	single nucleotide variant	NM_001033044.4(GLUL):c.177G>A (p.Glu59=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003825613]	likely benign	1	182387282	182387282	Human	1	name
405258024	CV3208090	single nucleotide variant	NM_001033044.4(GLUL):c.186C>T (p.Phe62=)	GLUL-related disorder [RCV003941542]	likely benign	1	182387273	182387273	Human		name , trait , alternate_id
597854660	CV3762523	single nucleotide variant	NM_001033044.4(GLUL):c.292T>C (p.Leu98=)	not specified [RCV005088440]	likely benign	1	182387167	182387167	Human		name
127272081	CV1066486	single nucleotide variant	NM_001033044.4(GLUL):c.996G>A (p.Glu332=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001405592]	likely benign	1	182384531	182384531	Human	1	name
150340181	CV1167879	deletion	NM_001033044.4(GLUL):c.-13-275_-13-269del	not provided [RCV001535080]	benign	1	182389019	182389025	Human		name
151780741	CV1408519	single nucleotide variant	NM_001033044.4(GLUL):c.86T>C (p.Met29Thr)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001915853]	uncertain significance	1	182388652	182388652	Human	1	name
151805696	CV1427212	single nucleotide variant	NM_001033044.4(GLUL):c.29A>G (p.Asn10Ser)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001899477]	uncertain significance	1	182388709	182388709	Human	1	name
151890368	CV1448129	single nucleotide variant	NM_001033044.4(GLUL):c.726C>T (p.Pro242=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001943018]	likely benign	1	182385434	182385434	Human	1	name
151854758	CV1466060	single nucleotide variant	NM_001033044.4(GLUL):c.98T>C (p.Ile33Thr)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001883193]\|GLUL-related disorder [RCV003401813]\|not provided [RCV004691453]	uncertain significance	1	182388640	182388640	Human	1	name , trait , alternate_id
151716759	CV1470716	single nucleotide variant	NM_001033044.4(GLUL):c.61C>T (p.Pro21Ser)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001909084]	uncertain significance	1	182388677	182388677	Human	1	name
152089122	CV1577297	single nucleotide variant	NM_001033044.4(GLUL):c.651T>C (p.His217=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002212478]	likely benign	1	182385509	182385509	Human	1	name
156119658	CV1873851	single nucleotide variant	NM_001033044.4(GLUL):c.753C>T (p.Gly251=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003081383]	likely benign	1	182385407	182385407	Human	1	name
156104738	CV1917137	single nucleotide variant	NM_001033044.4(GLUL):c.898C>T (p.Leu300=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002592406]	likely benign	1	182384629	182384629	Human	1	name
156203056	CV1925828	single nucleotide variant	NM_001033044.4(GLUL):c.870C>G (p.Pro290=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002643705]	likely benign	1	182384657	182384657	Human	1	name
155940098	CV2054890	single nucleotide variant	NM_001033044.4(GLUL):c.426A>G (p.Thr142=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002815635]	likely benign	1	182386305	182386305	Human	1	name
156022115	CV2111111	single nucleotide variant	NM_001033044.4(GLUL):c.810C>T (p.Ile270=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002909663]	likely benign	1	182384717	182384717	Human	1	name
156318225	CV2140519	single nucleotide variant	NM_001033044.4(GLUL):c.53T>C (p.Met18Thr)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003011524]	uncertain significance	1	182388685	182388685	Human	1	name
11578574	CV277629	single nucleotide variant	NM_001033044.4(GLUL):c.930C>T (p.Asn310=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000284509]	conflicting interpretations of pathogenicity\|uncertain significance	1	182384597	182384597	Human	1	name
11578746	CV277630	single nucleotide variant	NM_001033044.4(GLUL):c.825G>A (p.Glu275=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000288452]\|not provided [RCV004713546]	benign\|likely benign	1	182384702	182384702	Human	1	name
11580857	CV277756	single nucleotide variant	NM_001033044.4(GLUL):c.880C>T (p.Leu294=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000346598]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	182384647	182384647	Human	1	name
11596354	CV278749	deletion	NM_001033044.4(GLUL):c.-14+853_-14+855del	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000381528]	likely benign	1	182390824	182390826	Human	1	name
405867781	CV2842344	single nucleotide variant	NM_001033044.4(GLUL):c.838C>A (p.Arg280=)	EBV-positive nodal T- and NK-cell lymphoma [RCV004560293]	likely benign	1	182384689	182384689	Human		name
405269629	CV3201712	single nucleotide variant	NM_001033044.4(GLUL):c.456C>T (p.Asn152=)	GLUL-related disorder [RCV003899619]	likely benign	1	182386275	182386275	Human		name , trait , alternate_id
597973598	CV3820600	single nucleotide variant	NM_001033044.4(GLUL):c.897T>C (p.Arg299=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005168117]	likely benign	1	182384630	182384630	Human	1	name
597870730	CV3839364	single nucleotide variant	NM_001033044.4(GLUL):c.564C>T (p.Val188=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005176475]	likely benign	1	182385799	182385799	Human	1	name
597929303	CV3862851	single nucleotide variant	NM_001033044.4(GLUL):c.696T>C (p.Phe232=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005206385]	likely benign	1	182385464	182385464	Human	1	name
598222767	CV3893918	deletion	NM_001033044.4(GLUL):c.-14+887_-14+889del	not provided [RCV005257161]	likely benign	1	182390790	182390792	Human		name
15172290	CV706912	single nucleotide variant	NM_001033044.4(GLUL):c.768C>T (p.Phe256=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000972372]\|not provided [RCV004714166]	benign	1	182385392	182385392	Human	1	name
15132921	CV731905	single nucleotide variant	NM_001033044.4(GLUL):c.366C>T (p.Asp122=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000898043]	likely benign	1	182386365	182386365	Human	1	name
15148463	CV745877	single nucleotide variant	NM_001033044.4(GLUL):c.675G>A (p.Leu225=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003517285]	likely benign	1	182385485	182385485	Human	1	name
15137421	CV761363	single nucleotide variant	NM_001033044.4(GLUL):c.784C>A (p.Arg262=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001474688]	likely benign	1	182385376	182385376	Human	1	name
28886284	CV862896	single nucleotide variant	NM_001033044.4(GLUL):c.714T>C (p.Phe238=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098411]	uncertain significance	1	182385446	182385446	Human	1	name
126753547	CV1036441	deletion	NM_001033044.4(GLUL):c.415del (p.Leu139fs)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001353063]	pathogenic	1	182386316	182386316	Human	1	name
151741187	CV1386615	single nucleotide variant	NM_001033044.4(GLUL):c.1050G>A (p.Ser350=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001893286]	likely benign\|uncertain significance	1	182384477	182384477	Human	1	name
151876933	CV1395303	single nucleotide variant	NM_001033044.4(GLUL):c.134G>A (p.Arg45Gln)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002019651]	uncertain significance	1	182388604	182388604	Human	1	name
156440341	CV1946706	single nucleotide variant	NM_001033044.4(GLUL):c.267C>G (p.Phe89Leu)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003110373]	uncertain significance	1	182387192	182387192	Human	1	name
155906188	CV2027601	single nucleotide variant	NM_001033044.4(GLUL):c.1044C>G (p.Pro348=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002726484]	likely benign	1	182384483	182384483	Human	1	name
156086842	CV2155367	single nucleotide variant	NM_001033044.4(GLUL):c.1065C>T (p.Leu355=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003020537]	likely benign	1	182384462	182384462	Human	1	name
401830877	CV2748501	single nucleotide variant	NM_001033044.4(GLUL):c.173C>G (p.Pro58Arg)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003330149]	uncertain significance	1	182387286	182387286	Human	1	name
11579879	CV278651	single nucleotide variant	NM_001033044.4(GLUL):c.268C>T (p.Arg90Cys)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000315295]	uncertain significance	1	182387191	182387191	Human	1	name
11580943	CV278745	single nucleotide variant	NM_001033044.4(GLUL):c.238G>A (p.Val80Met)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000349371]	uncertain significance	1	182387221	182387221	Human	1	name
405049852	CV2898715	single nucleotide variant	NM_001033044.4(GLUL):c.1038C>T (p.Cys346=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003518789]	likely benign	1	182384489	182384489	Human	1	name
405273549	CV3197839	single nucleotide variant	NM_001033044.4(GLUL):c.1074G>T (p.Thr358=)	GLUL-related disorder [RCV003901802]	likely benign	1	182384453	182384453	Human		name , trait , alternate_id
596940005	CV3550754	duplication	NM_001033044.4(GLUL):c.889dup (p.Ala297fs)	not provided [RCV004814654]	uncertain significance	1	182384637	182384638	Human		name
597940027	CV3760596	single nucleotide variant	NM_001033044.4(GLUL):c.1023C>T (p.Arg341=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005077323]	likely benign	1	182384504	182384504	Human	1	name
597938016	CV3862826	single nucleotide variant	NM_001033044.4(GLUL):c.1092C>T (p.Thr364=)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005208099]	likely benign	1	182384435	182384435	Human	1	name
598124539	CV3885244	single nucleotide variant	NM_001033044.4(GLUL):c.1095C>T (p.Gly365=)	not specified [RCV005239821]	likely benign	1	182384432	182384432	Human		name
598125626	CV3885859	duplication	NM_001033044.4(GLUL):c.830dup (p.Ser278fs)	not provided [RCV005241662]	uncertain significance	1	182384696	182384697	Human		name
598263865	CV3978017	single nucleotide variant	NM_001033044.4(GLUL):c.239T>G (p.Val80Gly)	Inborn genetic diseases [RCV005348684]	uncertain significance	1	182387220	182387220	Human	1	name
151859602	CV1344007	single nucleotide variant	NM_001033044.4(GLUL):c.845A>G (p.Gln282Arg)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002034202]	uncertain significance	1	182384682	182384682	Human	1	name
151843349	CV1379884	single nucleotide variant	NM_001033044.4(GLUL):c.956G>A (p.Arg319His)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001936387]	uncertain significance	1	182384571	182384571	Human	1	name
156041778	CV1918554	single nucleotide variant	NM_001033044.4(GLUL):c.572C>T (p.Ala191Val)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002620283]	uncertain significance	1	182385791	182385791	Human	1	name
156109583	CV1963649	single nucleotide variant	NM_001033044.4(GLUL):c.680G>A (p.Arg227His)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002571150]	uncertain significance	1	182385480	182385480	Human	1	name
156298352	CV2017176	single nucleotide variant	NM_001033044.4(GLUL):c.679C>T (p.Arg227Cys)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002715943]	uncertain significance	1	182385481	182385481	Human	1	name
155940175	CV2068020	single nucleotide variant	NM_001033044.4(GLUL):c.986T>C (p.Val329Ala)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002839351]	uncertain significance	1	182384541	182384541	Human	1	name
156206648	CV2103765	single nucleotide variant	NM_001033044.4(GLUL):c.542G>A (p.Arg181Gln)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002931890]\|Inborn genetic diseases [RCV004973708]	uncertain significance	1	182385821	182385821	Human	2	name
155936405	CV2125727	single nucleotide variant	NM_001033044.4(GLUL):c.622C>G (p.Pro208Ala)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002970979]	uncertain significance	1	182385538	182385538	Human	1	name
156315001	CV2144030	single nucleotide variant	NM_001033044.4(GLUL):c.308A>G (p.Lys103Arg)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003011330]	uncertain significance	1	182387151	182387151	Human	1	name
156349703	CV2146955	single nucleotide variant	NM_001033044.4(GLUL):c.316C>T (p.Arg106Ter)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003030774]	uncertain significance	1	182387143	182387143	Human	1	name
156301391	CV2149902	single nucleotide variant	NM_001033044.4(GLUL):c.806A>G (p.Tyr269Cys)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003028111]	uncertain significance	1	182384721	182384721	Human	1	name
156095813	CV2152125	single nucleotide variant	NM_001033044.4(GLUL):c.467G>A (p.Gly156Glu)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003020860]	uncertain significance	1	182386264	182386264	Human	1	name
155951321	CV2165014	single nucleotide variant	NM_001033044.4(GLUL):c.590T>G (p.Val197Gly)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003032449]	uncertain significance	1	182385773	182385773	Human	1	name
156116345	CV2273566	single nucleotide variant	NM_001033044.4(GLUL):c.943G>T (p.Gly315Cys)	Inborn genetic diseases [RCV002848768]	uncertain significance	1	182384584	182384584	Human	1	name
156075951	CV2281556	single nucleotide variant	NM_001033044.4(GLUL):c.926T>C (p.Ile309Thr)	Inborn genetic diseases [RCV002868975]	uncertain significance	1	182384601	182384601	Human	1	name
401722190	CV2706419	single nucleotide variant	NM_001033044.4(GLUL):c.811G>A (p.Glu271Lys)	Inborn genetic diseases [RCV003267929]	uncertain significance	1	182384716	182384716	Human	1	name
11598570	CV277731	insertion	NM_001033044.4(GLUL):c.1909_1910insTCATTT	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000407682]	benign	1	182382495	182382496	Human	1	name
11663038	CV278741	single nucleotide variant	NM_001033044.4(GLUL):c.863A>G (p.Tyr288Cys)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000391593]	uncertain significance	1	182384664	182384664	Human	1	name
11581956	CV278743	single nucleotide variant	NM_001033044.4(GLUL):c.355C>T (p.Arg119Trp)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000391584]	uncertain significance	1	182386376	182386376	Human	1	name
8600087	CV31122	single nucleotide variant	NM_001033044.4(GLUL):c.970C>T (p.Arg324Cys)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000017463]	pathogenic	1	182384557	182384557	Human	1	name
405754856	CV3251949	single nucleotide variant	NM_001033044.4(GLUL):c.317G>A (p.Arg106Gln)	Inborn genetic diseases [RCV004393296]	uncertain significance	1	182387142	182387142	Human	1	name
405754860	CV3251950	single nucleotide variant	NM_001033044.4(GLUL):c.677A>G (p.His226Arg)	Inborn genetic diseases [RCV004393297]	uncertain significance	1	182385483	182385483	Human	1	name
408389894	CV3519122	single nucleotide variant	NM_001033044.4(GLUL):c.530A>G (p.Glu177Gly)	not provided [RCV004762431]	uncertain significance	1	182385833	182385833	Human		name
596922804	CV3537408	single nucleotide variant	NM_001033044.4(GLUL):c.833G>A (p.Ser278Asn)	not provided [RCV004787378]	uncertain significance	1	182384694	182384694	Human		name
596932769	CV3539397	single nucleotide variant	NM_001033044.4(GLUL):c.496G>A (p.Gly166Arg)	not provided [RCV004794021]	uncertain significance	1	182385867	182385867	Human		name
596943707	CV3543008	single nucleotide variant	NM_001033044.4(GLUL):c.855C>G (p.Ile285Met)	not provided [RCV004798593]	uncertain significance	1	182384672	182384672	Human		name
596938989	CV3549940	single nucleotide variant	NM_001033044.4(GLUL):c.474G>C (p.Gln158His)	not provided [RCV004812981]	uncertain significance	1	182386257	182386257	Human		name
12849018	CV363788	single nucleotide variant	NM_001033044.4(GLUL):c.515G>C (p.Gly172Ala)	Inborn genetic diseases [RCV004022263]\|not provided [RCV000422703]	uncertain significance	1	182385848	182385848	Human	1	name
597680338	CV3681543	single nucleotide variant	NM_001033044.4(GLUL):c.856C>T (p.Arg286Cys)	Inborn genetic diseases [RCV004982636]	uncertain significance	1	182384671	182384671	Human	1	name
597954269	CV3795742	single nucleotide variant	NM_001033044.4(GLUL):c.650A>G (p.His217Arg)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005136752]	uncertain significance	1	182385510	182385510	Human	1	name
597910066	CV3830068	single nucleotide variant	NM_001033044.4(GLUL):c.768C>G (p.Phe256Leu)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005182637]	uncertain significance	1	182385392	182385392	Human	1	name
597907427	CV3843007	single nucleotide variant	NM_001033044.4(GLUL):c.961G>A (p.Ala321Thr)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005182315]	uncertain significance	1	182384566	182384566	Human	1	name
8602003	CV38689	single nucleotide variant	NM_001033044.4(GLUL):c.970C>A (p.Arg324Ser)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000022586]	pathogenic	1	182384557	182384557	Human	1	name
616938502	CV4012594	single nucleotide variant	NM_001033044.4(GLUL):c.488G>A (p.Cys163Tyr)	Developmental and epileptic encephalopathy 116 [RCV005410058]	uncertain significance	1	182385875	182385875	Human	1	name
616938131	CV4015783	single nucleotide variant	NM_001033044.4(GLUL):c.604T>C (p.Trp202Arg)	Developmental and epileptic encephalopathy 116 [RCV005414315]	likely pathogenic	1	182385556	182385556	Human	1	name
13211667	CV425324	single nucleotide variant	NM_001033044.4(GLUL):c.857G>A (p.Arg286His)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002527153]\|not provided [RCV000497751]	uncertain significance	1	182384670	182384670	Human	1	name
15142111	CV731904	single nucleotide variant	NM_001033044.4(GLUL):c.881T>G (p.Leu294Arg)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002068638]	likely benign	1	182384646	182384646	Human	1	name
28891442	CV862897	single nucleotide variant	NM_001033044.4(GLUL):c.347C>T (p.Thr116Ile)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100186]	uncertain significance	1	182386384	182386384	Human	1	name
38476839	CV930178	single nucleotide variant	NM_001033044.4(GLUL):c.655T>C (p.Trp219Arg)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001204860]	uncertain significance	1	182385505	182385505	Human	1	name
126753546	CV1036440	single nucleotide variant	NM_001033044.4(GLUL):c.1075T>G (p.Cys359Gly)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001353062]	likely pathogenic	1	182384452	182384452	Human	1	name
151846093	CV1395203	single nucleotide variant	NM_001033044.4(GLUL):c.1100A>G (p.Glu367Gly)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001995353]	uncertain significance	1	182384427	182384427	Human	1	name
151761196	CV1496362	single nucleotide variant	NM_001033044.4(GLUL):c.1084A>G (p.Asn362Asp)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001895340]	uncertain significance	1	182384443	182384443	Human	1	name
156218570	CV1960036	single nucleotide variant	NM_001033044.4(GLUL):c.1102C>T (p.Pro368Ser)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002575435]	uncertain significance	1	182384425	182384425	Human	1	name
156226546	CV2352758	single nucleotide variant	NM_001033044.4(GLUL):c.1069C>T (p.Arg357Cys)	Inborn genetic diseases [RCV002986483]	uncertain significance	1	182384458	182384458	Human	1	name
8600088	CV31123	single nucleotide variant	NM_001033044.4(GLUL):c.1021C>T (p.Arg341Cys)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000017464]	pathogenic	1	182384506	182384506	Human	1	name
598263863	CV3978016	single nucleotide variant	NM_001033044.4(GLUL):c.1049C>T (p.Ser350Leu)	Inborn genetic diseases [RCV005348683]	uncertain significance	1	182384478	182384478	Human	1	name
13523585	CV492926	single nucleotide variant	NM_001033044.4(GLUL):c.1085A>G (p.Asn362Ser)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002532596]\|Inborn genetic diseases [RCV003302921]\|not provided [RCV000593192]	uncertain significance	1	182384442	182384442	Human	2	name
28886278	CV862895	single nucleotide variant	NM_001033044.4(GLUL):c.1093G>A (p.Gly365Ser)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098410]	uncertain significance	1	182384434	182384434	Human	1	name
38465580	CV941592	single nucleotide variant	NM_001033044.4(GLUL):c.1022G>A (p.Arg341His)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001230170]	uncertain significance	1	182384505	182384505	Human	1	name
13827672	CV578371	microsatellite	NM_001033044.4(GLUL):c.997AAG[1] (p.Lys334del)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000714873]	uncertain significance	1	182384525	182384527	Human		name
155904422	CV2084068	deletion	NM_001033044.4(GLUL):c.68_82del (p.Gly23_Gln27del)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002858061]	uncertain significance	1	182388656	182388670	Human	1	name
11650858	CV277563	indel	NM_001033044.4(GLUL):c.1910_1913delinsTCATTTAAGT	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000295607]	uncertain significance	1	182382492	182382495	Human		name
401923385	CV2803193	indel	NM_001033044.4(GLUL):c.317_318delinsAG (p.Arg106Gln)	GLUL-related disorder [RCV003404415]	uncertain significance	1	182387141	182387142	Human		name , trait , alternate_id
408388686	CV3522701	indel	NM_001033044.4(GLUL):c.838_839delinsAAACTAA (p.Arg280fs)	not provided [RCV004769082]	uncertain significance	1	182384688	182384689	Human		name
13520551	CV495092	indel	NM_001033044.4(GLUL):c.678_679delinsGT (p.His226_Arg227delinsGlnCys)	Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005091583]\|not specified [RCV000598722]	uncertain significance	1	182385481	182385482	Human		name

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