Gclc Variant Search Result - Rat Genome Database

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176 records found for search term Gclc

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8557815	CV18998	single nucleotide variant	GCLC, -129C-T	Myocardial infarction, susceptibility to [RCV001799585]	risk factor				Human		name
156448602	CV2402009	single nucleotide variant	NM_001498.4(GCLC):c.-34C>T	not provided [RCV003120168]	likely benign	6	53544679	53544679	Human		name
156405123	CV1919207	single nucleotide variant	NM_001498.4(GCLC):c.754-7T>A	not provided [RCV002585579]	likely benign	6	53509257	53509257	Human		name
156448784	CV2402196	single nucleotide variant	NM_001498.4(GCLC):c.447-3T>C	Gamma-glutamylcysteine synthetase deficiency [RCV003130892]\|not provided [RCV003120355]	likely benign\|uncertain significance	6	53516225	53516225	Human	1	name
597832288	CV3751326	single nucleotide variant	NM_001498.4(GCLC):c.620-4A>G	not provided [RCV005084872]	likely benign	6	53514341	53514341	Human		name
597842288	CV3752960	single nucleotide variant	NM_001498.4(GCLC):c.264-4G>A	not provided [RCV005086689]	likely benign	6	53520964	53520964	Human		name
597922764	CV3849392	single nucleotide variant	NM_001498.4(GCLC):c.264-5C>T	not provided [RCV005197573]	likely benign	6	53520965	53520965	Human		name
41405624	CV981550	microsatellite	NM_001498.4(GCLC):c.-9AGG[3]	none provided [RCV001286985]	benign	6	53544654	53544655	Human		name
150487849	CV1283904	microsatellite	NM_001498.4(GCLC):c.-29AGG[9]	not provided [RCV001716015]	benign	6	53544653	53544654	Human		name
151351164	CV1321081	microsatellite	NM_001498.4(GCLC):c.-29AGG[4]	not provided [RCV001810765]	likely benign\|conflicting interpretations of pathogenicity	6	53544654	53544662	Human		name
151352420	CV1321397	single nucleotide variant	NM_001498.4(GCLC):c.1703-8G>A	not provided [RCV001811823]	likely benign	6	53498975	53498975	Human		name
151352536	CV1321568	single nucleotide variant	NM_001498.4(GCLC):c.828+13T>C	not provided [RCV001811940]	likely benign	6	53509163	53509163	Human		name
152074441	CV1557579	single nucleotide variant	NM_001498.4(GCLC):c.447-12A>C	not provided [RCV002130028]	likely benign	6	53516234	53516234	Human		name
156385857	CV1961231	single nucleotide variant	NM_001498.4(GCLC):c.561-19G>A	not provided [RCV002583476]	likely benign	6	53514516	53514516	Human		name
156059962	CV1978924	single nucleotide variant	NM_001498.4(GCLC):c.754-16T>C	not provided [RCV002590942]	likely benign	6	53509266	53509266	Human		name
155938697	CV2041490	single nucleotide variant	NM_001498.4(GCLC):c.1197+5C>G	not provided [RCV002775050]	uncertain significance	6	53506908	53506908	Human		name
155952556	CV2043801	single nucleotide variant	NM_001498.4(GCLC):c.561-20C>T	not provided [RCV002775850]	likely benign\|uncertain significance	6	53514517	53514517	Human		name
243057688	CV2412599	single nucleotide variant	NM_001498.4(GCLC):c.1478-3C>G	Gamma-glutamylcysteine synthetase deficiency [RCV003131006]	uncertain significance	6	53500353	53500353	Human	1	name
402488115	CV2861856	single nucleotide variant	NM_001498.4(GCLC):c.264-12T>C	not provided [RCV003544683]	likely benign	6	53520972	53520972	Human		name
405019718	CV2866229	single nucleotide variant	NM_001498.4(GCLC):c.1396-6C>T	not provided [RCV003577487]	likely benign	6	53500519	53500519	Human		name
402471709	CV2912006	duplication	NM_001498.4(GCLC):c.828+14dup	not provided [RCV003570636]	likely benign	6	53509161	53509162	Human		name
402488804	CV2995482	single nucleotide variant	NM_001498.4(GCLC):c.1396-8T>C	not provided [RCV003687256]	likely benign	6	53500521	53500521	Human		name
405238991	CV3081377	single nucleotide variant	NM_001498.4(GCLC):c.1395+7A>G	not provided [RCV003736456]	likely benign	6	53505385	53505385	Human		name
405051124	CV3081653	single nucleotide variant	NM_001498.4(GCLC):c.1581+8G>A	not provided [RCV003740613]	likely benign	6	53500239	53500239	Human		name
405136788	CV3115773	single nucleotide variant	NM_001498.4(GCLC):c.1198-8T>C	not provided [RCV003816430]	likely benign	6	53505903	53505903	Human		name
404982211	CV3121467	single nucleotide variant	NM_001498.4(GCLC):c.946-15A>T	not provided [RCV003826266]	likely benign	6	53507633	53507633	Human		name
405215078	CV3124529	single nucleotide variant	NM_001498.4(GCLC):c.754-12A>C	not provided [RCV003823891]	likely benign	6	53509262	53509262	Human		name
405292201	CV3192342	microsatellite	NM_001498.4(GCLC):c.-29AGG[6]	GCLC-related disorder [RCV003929620]	likely benign	6	53544654	53544656	Human		name , trait , alternate_id
597869280	CV3801615	single nucleotide variant	NM_001498.4(GCLC):c.560+17G>T	not provided [RCV005143604]	likely benign	6	53516092	53516092	Human		name
13463017	CV439361	microsatellite	NM_001498.4(GCLC):c.-29AGG[8]	GCLC-related disorder [RCV003962423]\|not provided [RCV001644596]	benign	6	53544653	53544654	Human		name , trait , alternate_id
15176179	CV779262	single nucleotide variant	NM_001498.4(GCLC):c.1478-6C>T	not provided [RCV000973127]	benign\|likely benign	6	53500356	53500356	Human		name
41405817	CV981545	single nucleotide variant	NM_001498.4(GCLC):c.264-11C>A	not provided [RCV001810583]	conflicting interpretations of pathogenicity\|uncertain significance	6	53520971	53520971	Human		name
127287137	CV1152217	microsatellite	NM_001498.4(GCLC):c.-29AGG[11]	not provided [RCV001507666]	uncertain significance	6	53544653	53544654	Human		name
150446482	CV1215664	microsatellite	NM_001498.4(GCLC):c.*59AGCC[1]	not provided [RCV001611257]	benign	6	53498690	53498693	Human		name
150451578	CV1220882	single nucleotide variant	NM_001498.4(GCLC):c.1581+26C>G	not provided [RCV001611976]	benign	6	53500221	53500221	Human		name
150480210	CV1221925	single nucleotide variant	NM_001498.4(GCLC):c.446+233G>A	not provided [RCV001616721]	benign	6	53520545	53520545	Human		name
150494284	CV1226129	deletion	NM_001498.4(GCLC):c.560+325del	not provided [RCV001619348]	benign	6	53515784	53515784	Human		name
150517308	CV1226756	single nucleotide variant	NM_001498.4(GCLC):c.945+196C>G	not provided [RCV001639850]	benign	6	53508399	53508399	Human		name
150434487	CV1230800	single nucleotide variant	NM_001498.4(GCLC):c.446+101G>A	not provided [RCV001643747]	benign	6	53520677	53520677	Human		name
150431773	CV1236523	single nucleotide variant	NM_001498.4(GCLC):c.1396-63G>A	not provided [RCV001641927]	benign	6	53500576	53500576	Human		name
150502926	CV1241682	single nucleotide variant	NM_001498.4(GCLC):c.1198-59T>A	not provided [RCV001657273]	benign	6	53505954	53505954	Human		name
150452011	CV1254902	single nucleotide variant	NM_001498.4(GCLC):c.560+194G>A	not provided [RCV001667961]	benign	6	53515915	53515915	Human		name
150475908	CV1263569	single nucleotide variant	NM_001498.4(GCLC):c.561-110T>G	not provided [RCV001685092]	benign	6	53514607	53514607	Human		name
150494886	CV1267429	deletion	NM_001498.4(GCLC):c.1703-45del	not provided [RCV001688457]	benign	6	53499012	53499012	Human		name
150451423	CV1276593	single nucleotide variant	NM_001498.4(GCLC):c.828+203G>A	not provided [RCV001708382]	benign	6	53508973	53508973	Human		name
150446663	CV1278346	single nucleotide variant	NM_001498.4(GCLC):c.561-222G>T	not provided [RCV001707489]	benign	6	53514719	53514719	Human		name
150490478	CV1279754	single nucleotide variant	NM_001498.4(GCLC):c.1395+83A>G	not provided [RCV001716481]	benign	6	53505309	53505309	Human		name
150487828	CV1283901	single nucleotide variant	NM_001498.4(GCLC):c.945+288T>C	not provided [RCV001716012]	benign	6	53508307	53508307	Human		name
150487841	CV1283903	duplication	NM_001498.4(GCLC):c.753+140dup	not provided [RCV001716014]	benign	6	53514063	53514064	Human		name
151352568	CV1321613	single nucleotide variant	NM_001498.4(GCLC):c.1478-16C>A	not provided [RCV001812525]	benign\|likely benign	6	53500366	53500366	Human		name
151352663	CV1323919	microsatellite	NM_001498.4(GCLC):c.-29AGG[10]	not provided [RCV001812624]	benign	6	53544653	53544654	Human		name
152127746	CV1534097	single nucleotide variant	NM_001498.4(GCLC):c.1291-16G>A	not provided [RCV002136541]	likely benign	6	53505512	53505512	Human		name
152120917	CV1576275	single nucleotide variant	NM_001498.4(GCLC):c.1477+10T>C	not provided [RCV002198040]	likely benign	6	53500422	53500422	Human		name
156417311	CV1970319	single nucleotide variant	NM_001498.4(GCLC):c.1582-14C>A	not provided [RCV002590123]	likely benign	6	53500179	53500179	Human		name
156233086	CV1999450	single nucleotide variant	NM_001498.4(GCLC):c.1395+15C>T	not provided [RCV002667656]	likely benign	6	53505377	53505377	Human		name
155956791	CV2010483	single nucleotide variant	NM_001498.4(GCLC):c.1581+19A>G	not provided [RCV002686307]	likely benign	6	53500228	53500228	Human		name
156323085	CV2067744	single nucleotide variant	NM_001498.4(GCLC):c.1702+15T>G	not provided [RCV002834835]	likely benign	6	53500030	53500030	Human		name
155980949	CV2097946	single nucleotide variant	NM_001498.4(GCLC):c.1396-17T>A	not provided [RCV002907704]	likely benign	6	53500530	53500530	Human		name
402493559	CV2874213	single nucleotide variant	NM_001498.4(GCLC):c.1702+10C>G	not provided [RCV003545161]	likely benign	6	53500035	53500035	Human		name
404977671	CV3012112	single nucleotide variant	NM_001498.4(GCLC):c.1084+16A>T	not provided [RCV003690669]	likely benign	6	53507464	53507464	Human		name
405156296	CV3152501	single nucleotide variant	NM_001498.4(GCLC):c.1395+20T>C	not provided [RCV003840428]	likely benign	6	53505372	53505372	Human		name
597863165	CV3792420	single nucleotide variant	NM_001498.4(GCLC):c.1198-15G>A	not provided [RCV005137307]	likely benign	6	53505910	53505910	Human		name
21405502	CV799447	single nucleotide variant	NM_001498.4(GCLC):c.1703-11C>G	not provided [RCV001811580]	benign	6	53498978	53498978	Human		name
41407379	CV981539	single nucleotide variant	NM_001498.4(GCLC):c.1703-19G>A	not provided [RCV001619901]	benign	6	53498986	53498986	Human		name
150514562	CV1212054	single nucleotide variant	NM_001498.4(GCLC):c.1197+251T>C	not provided [RCV001599123]	benign	6	53506662	53506662	Human		name
150485343	CV1222977	single nucleotide variant	NM_001498.4(GCLC):c.1291-101G>A	not provided [RCV001617689]	benign	6	53505597	53505597	Human		name
150489391	CV1250547	single nucleotide variant	NM_001498.4(GCLC):c.1084+133A>G	not provided [RCV001674510]	benign	6	53507347	53507347	Human		name
150507128	CV1256854	single nucleotide variant	NM_001498.4(GCLC):c.1395+176C>T	not provided [RCV001678357]	benign	6	53505216	53505216	Human		name
150442396	CV1266223	single nucleotide variant	NM_001498.4(GCLC):c.1703-183C>G	not provided [RCV001690659]	benign	6	53499150	53499150	Human		name
156250040	CV2147100	single nucleotide variant	NM_001498.4(GCLC):c.6G>A (p.Gly2=)	not provided [RCV003008411]	likely benign	6	53544640	53544640	Human		name
127287135	CV1152216	single nucleotide variant	NM_001498.4(GCLC):c.12G>A (p.Leu4=)	not provided [RCV001507665]	conflicting interpretations of pathogenicity\|uncertain significance	6	53544634	53544634	Human		name
597847017	CV3768249	single nucleotide variant	NM_001498.4(GCLC):c.27G>T (p.Pro9=)	not provided [RCV005122628]	likely benign	6	53544619	53544619	Human		name
41405666	CV981549	insertion	NM_001498.4(GCLC):c.-10_-9insAGGAGG	none provided [RCV001287115]	benign	6	53544654	53544655	Human		name
152170505	CV1592459	single nucleotide variant	NM_001498.4(GCLC):c.42A>G (p.Glu14=)	not provided [RCV002161796]	likely benign	6	53544604	53544604	Human		name
156085794	CV1987599	duplication	NM_001498.4(GCLC):c.829-14_829-13dup	not provided [RCV002621692]	likely benign	6	53508723	53508724	Human		name
405173745	CV2853514	single nucleotide variant	NM_001498.4(GCLC):c.57C>G (p.Ala19=)	not provided [RCV003542557]	conflicting interpretations of pathogenicity\|uncertain significance	6	53544589	53544589	Human		name
41404924	CV981546	single nucleotide variant	NM_001498.4(GCLC):c.234G>T (p.Leu78=)	GCLC-related disorder [RCV003973178]\|not provided [RCV001812283]	benign	6	53522444	53522444	Human	1	name , trait , alternate_id
41405051	CV981547	single nucleotide variant	NM_001498.4(GCLC):c.26C>G (p.Pro9Arg)	not provided [RCV001812356]	uncertain significance	6	53544620	53544620	Human		name
151352487	CV1321500	single nucleotide variant	NM_001498.4(GCLC):c.565T>C (p.Leu189=)	not provided [RCV001811890]	likely benign	6	53514493	53514493	Human		name
152055042	CV1590827	single nucleotide variant	NM_001498.4(GCLC):c.948A>G (p.Pro316=)	not provided [RCV002109434]	likely benign	6	53507616	53507616	Human		name
152144638	CV1616317	single nucleotide variant	NM_001498.4(GCLC):c.345C>G (p.Ser115=)	not provided [RCV002120848]	likely benign	6	53520879	53520879	Human		name
156097345	CV2012929	single nucleotide variant	NM_001498.4(GCLC):c.474C>T (p.Pro158=)	not provided [RCV002706535]	likely benign	6	53516195	53516195	Human		name
156199830	CV2153772	single nucleotide variant	NM_001498.4(GCLC):c.795T>A (p.Leu265=)	not provided [RCV003006284]	likely benign	6	53509209	53509209	Human		name
156238455	CV2235789	single nucleotide variant	NM_001498.4(GCLC):c.82C>A (p.Leu28Ile)	Inborn genetic diseases [RCV002768108]	uncertain significance	6	53544564	53544564	Human	1	name
404977326	CV2850157	single nucleotide variant	NM_001498.4(GCLC):c.94C>T (p.His32Tyr)	Gamma-glutamylcysteine synthetase deficiency [RCV003486084]\|Inborn genetic diseases [RCV004634273]	uncertain significance	6	53544552	53544552	Human	2	name
404987446	CV2932691	single nucleotide variant	NM_001498.4(GCLC):c.330C>T (p.Tyr110=)	GCLC-related disorder [RCV003956442]\|not provided [RCV003576183]	likely benign	6	53520894	53520894	Human	1	name , trait , alternate_id
405212435	CV3146406	single nucleotide variant	NM_001498.4(GCLC):c.516C>T (p.Ser172=)	not provided [RCV003845938]	likely benign	6	53516153	53516153	Human		name
405175593	CV3152268	single nucleotide variant	NM_001498.4(GCLC):c.699G>A (p.Pro233=)	Inborn genetic diseases [RCV004634387]\|not provided [RCV003858223]	likely benign	6	53514258	53514258	Human	1	name
405282824	CV3191136	single nucleotide variant	NM_001498.4(GCLC):c.948A>T (p.Pro316=)	GCLC-related disorder [RCV003921548]\|not provided [RCV005230605]	likely benign	6	53507616	53507616	Human	1	name , trait , alternate_id
597893169	CV3743927	single nucleotide variant	NM_001498.4(GCLC):c.711C>T (p.Tyr237=)	not provided [RCV005071397]	likely benign	6	53514246	53514246	Human		name
597913859	CV3844985	single nucleotide variant	NM_001498.4(GCLC):c.345C>T (p.Ser115=)	not provided [RCV005188971]	likely benign	6	53520879	53520879	Human		name
597922598	CV3849217	single nucleotide variant	NM_001498.4(GCLC):c.519C>T (p.Leu173=)	not provided [RCV005197398]	likely benign	6	53516150	53516150	Human		name
15157827	CV699622	single nucleotide variant	NM_001498.4(GCLC):c.528A>G (p.Pro176=)	not provided [RCV000946956]	benign\|likely benign	6	53516141	53516141	Human		name
15151555	CV735710	single nucleotide variant	NM_001498.4(GCLC):c.852C>G (p.Pro284=)	not provided [RCV000901387]	likely benign	6	53508688	53508688	Human		name
15131705	CV765743	single nucleotide variant	NM_001498.4(GCLC):c.984A>T (p.Arg328=)	GCLC-related disorder [RCV003925840]\|not provided [RCV000942273]	benign\|likely benign	6	53507580	53507580	Human	1	name , trait , alternate_id
15107203	CV782586	single nucleotide variant	NM_001498.4(GCLC):c.888C>T (p.Arg296=)	GCLC-related disorder [RCV003918592]\|not provided [RCV000976778]	likely benign	6	53508652	53508652	Human	1	name , trait , alternate_id
151782206	CV1360493	single nucleotide variant	NM_001498.4(GCLC):c.158A>G (p.Tyr53Cys)	not provided [RCV001865070]	uncertain significance	6	53522520	53522520	Human		name
152030614	CV1534302	single nucleotide variant	NM_001498.4(GCLC):c.1140G>A (p.Leu380=)	not provided [RCV002086181]	likely benign	6	53506970	53506970	Human		name
152103198	CV1667403	single nucleotide variant	NM_001498.4(GCLC):c.177T>G (p.Asp59Glu)	not provided [RCV002214390]	uncertain significance	6	53522501	53522501	Human		name
155982699	CV2022107	single nucleotide variant	NM_001498.4(GCLC):c.1575T>C (p.Asn525=)	not provided [RCV002755401]	likely benign	6	53500253	53500253	Human		name
156321502	CV2123834	single nucleotide variant	NM_001498.4(GCLC):c.1818C>T (p.Asn606=)	not provided [RCV002963234]	likely benign	6	53498852	53498852	Human		name
243052241	CV2412597	single nucleotide variant	NM_001498.4(GCLC):c.196C>T (p.Arg66Trp)	Gamma-glutamylcysteine synthetase deficiency [RCV003131005]\|not provided [RCV005099293]	uncertain significance	6	53522482	53522482	Human	1	name
329848589	CV2523333	single nucleotide variant	NM_001498.4(GCLC):c.197G>A (p.Arg66Gln)	not provided [RCV003225347]	uncertain significance	6	53522481	53522481	Human		name
401944741	CV2840582	single nucleotide variant	NM_001498.4(GCLC):c.1608A>T (p.Pro536=)	not provided [RCV003457472]	likely benign	6	53500139	53500139	Human		name
401961636	CV2843958	single nucleotide variant	NM_001498.4(GCLC):c.166G>T (p.Val56Leu)	not provided [RCV003481797]	uncertain significance	6	53522512	53522512	Human		name
402482920	CV2921872	single nucleotide variant	NM_001498.4(GCLC):c.1506C>T (p.Gly502=)	not provided [RCV003572259]	likely benign	6	53500322	53500322	Human		name
405240241	CV2993546	single nucleotide variant	NM_001498.4(GCLC):c.1143A>C (p.Thr381=)	not provided [RCV003718982]	likely benign	6	53506967	53506967	Human		name
405053637	CV3022341	single nucleotide variant	NM_001498.4(GCLC):c.1494G>A (p.Val498=)	not provided [RCV003697182]	likely benign	6	53500334	53500334	Human		name
597830712	CV3743250	single nucleotide variant	NM_001498.4(GCLC):c.1497T>C (p.Asp499=)	not provided [RCV005062258]	likely benign	6	53500331	53500331	Human		name
597892857	CV3819985	single nucleotide variant	NM_001498.4(GCLC):c.1767A>G (p.Gln589=)	not provided [RCV005167699]	likely benign	6	53498903	53498903	Human		name
597913910	CV3841582	single nucleotide variant	NM_001498.4(GCLC):c.1482C>T (p.Gly494=)	not provided [RCV005189015]	likely benign	6	53500346	53500346	Human		name
597922360	CV3858407	single nucleotide variant	NM_001498.4(GCLC):c.1212A>C (p.Thr404=)	not provided [RCV005197150]	likely benign	6	53505881	53505881	Human		name
598218447	CV3970465	single nucleotide variant	NM_001498.4(GCLC):c.110T>C (p.Val37Ala)	Inborn genetic diseases [RCV005340152]	uncertain significance	6	53544536	53544536	Human	1	name
15166589	CV710561	single nucleotide variant	NM_001498.4(GCLC):c.1743C>T (p.Ile581=)	not provided [RCV000971214]	likely benign	6	53498927	53498927	Human		name
15151557	CV722071	single nucleotide variant	NM_001498.4(GCLC):c.1563C>T (p.Asp521=)	GCLC-related disorder [RCV003983239]\|not provided [RCV000879621]	benign\|likely benign	6	53500265	53500265	Human	1	name , trait , alternate_id
15183948	CV735709	single nucleotide variant	NM_001498.4(GCLC):c.1524G>A (p.Thr508=)	not provided [RCV000908169]	benign\|likely benign	6	53500304	53500304	Human		name
41407342	CV981540	single nucleotide variant	NM_001498.4(GCLC):c.1632C>T (p.Asn544=)	not provided [RCV001810657]	benign\|likely benign	6	53500115	53500115	Human		name
156371782	CV1905486	single nucleotide variant	NM_001498.4(GCLC):c.775A>G (p.Ile259Val)	Inborn genetic diseases [RCV003092496]\|not provided [RCV003092497]	uncertain significance	6	53509229	53509229	Human	1	name
156205414	CV1922734	single nucleotide variant	NM_001498.4(GCLC):c.331G>A (p.Gly111Arg)	not provided [RCV002643789]	uncertain significance	6	53520893	53520893	Human		name
156408882	CV1954554	single nucleotide variant	NM_001498.4(GCLC):c.866A>G (p.Tyr289Cys)	not provided [RCV002586644]	uncertain significance	6	53508674	53508674	Human		name
155987730	CV2026715	single nucleotide variant	NM_001498.4(GCLC):c.965A>G (p.Tyr322Cys)	not provided [RCV002755614]	uncertain significance	6	53507599	53507599	Human		name
156133813	CV2118877	single nucleotide variant	NM_001498.4(GCLC):c.892G>A (p.Gly298Arg)	not provided [RCV002953976]	uncertain significance	6	53508648	53508648	Human		name
155989938	CV2258877	single nucleotide variant	NM_001498.4(GCLC):c.622T>A (p.Phe208Ile)	Inborn genetic diseases [RCV002778459]	uncertain significance	6	53514335	53514335	Human	1	name
155973873	CV2333245	single nucleotide variant	NM_001498.4(GCLC):c.622T>C (p.Phe208Leu)	Inborn genetic diseases [RCV002973226]	uncertain significance	6	53514335	53514335	Human	1	name
243059802	CV2412593	single nucleotide variant	NM_001498.4(GCLC):c.346G>A (p.Glu116Lys)	Gamma-glutamylcysteine synthetase deficiency [RCV003135344]	uncertain significance	6	53520878	53520878	Human	1	name
243059805	CV2412598	single nucleotide variant	NM_001498.4(GCLC):c.364G>C (p.Ala122Pro)	Gamma-glutamylcysteine synthetase deficiency [RCV003135347]	uncertain significance	6	53520860	53520860	Human	1	name
404977324	CV2850156	single nucleotide variant	NM_001498.4(GCLC):c.935G>A (p.Arg312Gln)	Gamma-glutamylcysteine synthetase deficiency [RCV003486083]\|not provided [RCV004790573]	uncertain significance	6	53508605	53508605	Human	1	name
407512260	CV3432801	single nucleotide variant	NM_001498.4(GCLC):c.497A>G (p.Glu166Gly)	Inborn genetic diseases [RCV004626736]	uncertain significance	6	53516172	53516172	Human	1	name
407512263	CV3432802	single nucleotide variant	NM_001498.4(GCLC):c.581G>A (p.Arg194Gln)	Inborn genetic diseases [RCV004626737]	uncertain significance	6	53514477	53514477	Human	1	name
408395062	CV3522318	single nucleotide variant	NM_001498.4(GCLC):c.473C>T (p.Pro158Leu)	Gamma-glutamylcysteine synthetase deficiency [RCV004765396]	pathogenic	6	53516196	53516196	Human	1	name
596932219	CV3538862	single nucleotide variant	NM_001498.4(GCLC):c.487A>C (p.Asn163His)	not provided [RCV004792988]	uncertain significance	6	53516182	53516182	Human		name
596947162	CV3548712	single nucleotide variant	NM_001498.4(GCLC):c.860G>A (p.Arg287Gln)	not provided [RCV004811036]	uncertain significance	6	53508680	53508680	Human		name
597683827	CV3677989	single nucleotide variant	NM_001498.4(GCLC):c.447A>C (p.Arg149Ser)	Inborn genetic diseases [RCV004983662]	uncertain significance	6	53516222	53516222	Human	1	name
597925625	CV3748615	single nucleotide variant	NM_001498.4(GCLC):c.400A>G (p.Ile134Val)	not provided [RCV005075263]	uncertain significance	6	53520824	53520824	Human		name
597930292	CV3861434	single nucleotide variant	NM_001498.4(GCLC):c.952A>G (p.Lys318Glu)	not provided [RCV005204591]	uncertain significance	6	53507612	53507612	Human		name
13705374	CV536717	single nucleotide variant	NM_001498.4(GCLC):c.514T>A (p.Ser172Thr)	Gamma-glutamylcysteine synthetase deficiency [RCV003989573]\|not provided [RCV000657866]	likely pathogenic\|uncertain significance	6	53516155	53516155	Human	1	name
38457110	CV919042	single nucleotide variant	NM_001498.4(GCLC):c.482A>G (p.Lys161Arg)	Gamma-glutamylcysteine synthetase deficiency [RCV001195725]\|not provided [RCV001859180]	uncertain significance	6	53516187	53516187	Human	1	name
41405090	CV981542	single nucleotide variant	NM_001498.4(GCLC):c.646C>G (p.Pro216Ala)	not provided [RCV001812385]	uncertain significance	6	53514311	53514311	Human		name
41405130	CV981543	single nucleotide variant	NM_001498.4(GCLC):c.500G>A (p.Gly167Glu)	not provided [RCV001812416]	uncertain significance	6	53516169	53516169	Human		name
41405126	CV981544	single nucleotide variant	NM_001498.4(GCLC):c.380G>A (p.Arg127His)	not provided [RCV001812412]	uncertain significance	6	53520844	53520844	Human		name
151352522	CV1321547	single nucleotide variant	NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser)	not provided [RCV001811926]	conflicting interpretations of pathogenicity\|uncertain significance	6	53500342	53500342	Human		name
151860217	CV1400054	single nucleotide variant	NM_001498.4(GCLC):c.1499G>A (p.Gly500Asp)	not provided [RCV001980029]	uncertain significance	6	53500329	53500329	Human		name
151721725	CV1491770	single nucleotide variant	NM_001498.4(GCLC):c.1049T>C (p.Ile350Thr)	not provided [RCV002003771]	uncertain significance	6	53507515	53507515	Human		name
8596233	CV18997	single nucleotide variant	NM_001498.4(GCLC):c.1109A>T (p.His370Leu)	Gamma-glutamylcysteine synthetase deficiency [RCV000004164]	pathogenic	6	53507001	53507001	Human	1	name
156161858	CV1977836	single nucleotide variant	NM_001498.4(GCLC):c.1874A>G (p.Lys625Arg)	Inborn genetic diseases [RCV004973486]\|not provided [RCV002594494]	uncertain significance	6	53498796	53498796	Human	1	name
156075266	CV1985556	single nucleotide variant	NM_001498.4(GCLC):c.1909A>G (p.Asn637Asp)	not provided [RCV002638722]	uncertain significance	6	53498761	53498761	Human		name
156063857	CV2096399	single nucleotide variant	NM_001498.4(GCLC):c.1051G>C (p.Asp351His)	not provided [RCV002886594]	uncertain significance	6	53507513	53507513	Human		name
156131178	CV2116860	single nucleotide variant	NM_001498.4(GCLC):c.1735G>A (p.Glu579Lys)	not provided [RCV002928205]	uncertain significance	6	53498935	53498935	Human		name
156302384	CV2129568	single nucleotide variant	NM_001498.4(GCLC):c.1531G>A (p.Ala511Thr)	Gamma-glutamylcysteine synthetase deficiency [RCV003134564]\|not provided [RCV002962203]	uncertain significance	6	53500297	53500297	Human	1	name
156310155	CV2133179	single nucleotide variant	NM_001498.4(GCLC):c.1427G>T (p.Arg476Ile)	Gamma-glutamylcysteine synthetase deficiency [RCV003485804]\|Inborn genetic diseases [RCV004978456]\|not provided [RCV003011062]	uncertain significance	6	53500482	53500482	Human	2	name
156369667	CV2263385	single nucleotide variant	NM_001498.4(GCLC):c.1864G>T (p.Ala622Ser)	Inborn genetic diseases [RCV002814112]	uncertain significance	6	53498806	53498806	Human	1	name
156448549	CV2401954	single nucleotide variant	NM_001498.4(GCLC):c.1523C>T (p.Thr508Met)	not provided [RCV003120113]	uncertain significance	6	53500305	53500305	Human		name
243059803	CV2412594	single nucleotide variant	NM_001498.4(GCLC):c.1004A>G (p.Tyr335Cys)	Gamma-glutamylcysteine synthetase deficiency [RCV003135345]	uncertain significance	6	53507560	53507560	Human	1	name
243057687	CV2412595	single nucleotide variant	NM_001498.4(GCLC):c.1280G>C (p.Arg427Pro)	Gamma-glutamylcysteine synthetase deficiency [RCV003131004]	uncertain significance	6	53505813	53505813	Human	1	name
243059804	CV2412596	single nucleotide variant	NM_001498.4(GCLC):c.1106A>G (p.Gln369Arg)	Gamma-glutamylcysteine synthetase deficiency [RCV003135346]	uncertain significance	6	53507004	53507004	Human	1	name
401899888	CV2755835	single nucleotide variant	NM_001498.4(GCLC):c.1791G>T (p.Met597Ile)	Inborn genetic diseases [RCV003378211]	uncertain significance	6	53498879	53498879	Human	1	name
401881391	CV2759398	single nucleotide variant	NM_001498.4(GCLC):c.1048A>G (p.Ile350Val)	Inborn genetic diseases [RCV003350018]	uncertain significance	6	53507516	53507516	Human	1	name
401905191	CV2831404	single nucleotide variant	NM_001498.4(GCLC):c.1907C>G (p.Ser636Cys)	Gamma-glutamylcysteine synthetase deficiency [RCV003444396]	uncertain significance	6	53498763	53498763	Human	1	name
404977323	CV2850155	single nucleotide variant	NM_001498.4(GCLC):c.1066G>A (p.Glu356Lys)	Gamma-glutamylcysteine synthetase deficiency [RCV003486082]	uncertain significance	6	53507498	53507498	Human	1	name
404977328	CV2850158	single nucleotide variant	NM_001498.4(GCLC):c.1743C>G (p.Ile581Met)	Gamma-glutamylcysteine synthetase deficiency [RCV003486085]	uncertain significance	6	53498927	53498927	Human	1	name
404977330	CV2850159	single nucleotide variant	NM_001498.4(GCLC):c.1267A>G (p.Arg423Gly)	Gamma-glutamylcysteine synthetase deficiency [RCV003486086]	uncertain significance	6	53505826	53505826	Human	1	name
404977332	CV2850160	single nucleotide variant	NM_001498.4(GCLC):c.1538A>T (p.Glu513Val)	Gamma-glutamylcysteine synthetase deficiency [RCV003486087]	uncertain significance	6	53500290	53500290	Human	1	name
405204135	CV3063256	single nucleotide variant	NM_001498.4(GCLC):c.1520G>T (p.Ser507Ile)	not provided [RCV003731034]	uncertain significance	6	53500308	53500308	Human		name
405238882	CV3081435	single nucleotide variant	NM_001498.4(GCLC):c.1111G>A (p.Val371Ile)	not provided [RCV003736501]	uncertain significance	6	53506999	53506999	Human		name
405234624	CV3155556	single nucleotide variant	NM_001498.4(GCLC):c.1505G>T (p.Gly502Val)	not provided [RCV003853534]	uncertain significance	6	53500323	53500323	Human		name
407425148	CV3409377	single nucleotide variant	NM_001498.4(GCLC):c.1484A>G (p.Asn495Ser)	not provided [RCV004585308]	uncertain significance	6	53500344	53500344	Human		name
596932217	CV3538860	single nucleotide variant	NM_001498.4(GCLC):c.1036A>G (p.Ile346Val)	not provided [RCV004792986]	uncertain significance	6	53507528	53507528	Human		name
596948126	CV3549206	single nucleotide variant	NM_001498.4(GCLC):c.1791G>A (p.Met597Ile)	not provided [RCV004812026]	uncertain significance	6	53498879	53498879	Human		name
597679017	CV3677990	single nucleotide variant	NM_001498.4(GCLC):c.1054A>G (p.Lys352Glu)	Inborn genetic diseases [RCV004982415]	uncertain significance	6	53507510	53507510	Human	1	name
598218453	CV3970466	single nucleotide variant	NM_001498.4(GCLC):c.1723A>G (p.Arg575Gly)	Inborn genetic diseases [RCV005340153]	uncertain significance	6	53498947	53498947	Human	1	name
14394178	CV609628	single nucleotide variant	NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)	not provided [RCV000757323]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	53505403	53505403	Human		name
15190953	CV722072	single nucleotide variant	NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)	GCLC-related disorder [RCV003930716]\|not provided [RCV000888243]	likely benign\|conflicting interpretations of pathogenicity	6	53507525	53507525	Human	1	name , trait , alternate_id
41404958	CV981538	single nucleotide variant	NM_001498.4(GCLC):c.1787A>C (p.Glu596Ala)	not provided [RCV001812302]	uncertain significance	6	53498883	53498883	Human		name
41405220	CV981541	single nucleotide variant	NM_001498.4(GCLC):c.1091A>G (p.Asp364Gly)	not provided [RCV001812467]	conflicting interpretations of pathogenicity\|uncertain significance	6	53507019	53507019	Human		name
150495379	CV1241560	insertion	NM_001498.4(GCLC):c.829-116_829-115insGGTGGA	not provided [RCV001655567]	benign	6	53508826	53508827	Human		name
153349733	CV1693895	indel	NM_001498.4(GCLC):c.1303_1311delinsCCTAGAC (p.Asp435fs)	not provided [RCV002276151]	uncertain significance	6	53505476	53505484	Human		name

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