ClinVar for MedGen (Select 97988) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251315	NM_000178.4(GSS):c.809A>G (p.Tyr270Cys)	GSS (Y270C)	Single nucleotide variant (missense variant)	Glutathione synthetase deficiency with 5-oxoprolinuria	GLikely pathogenic
Select item 3248261	NC_000020.10:g.(?_33516631)_(33517413_?)del	GSS	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3024061	NM_000178.4(GSS):c.256C>T (p.Leu86=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3020314	NM_000178.4(GSS):c.1111+8G>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3020018	NM_000178.4(GSS):c.690-8T>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3019849	NM_000178.4(GSS):c.396C>T (p.Arg132=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3019128	NM_000178.4(GSS):c.689+9A>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3018843	NM_000178.4(GSS):c.255C>T (p.Phe85=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3018398	NM_000178.4(GSS):c.689+8A>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3018166	NM_000178.4(GSS):c.1374T>C (p.Asp458=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3017203	NM_000178.4(GSS):c.609-4C>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3014395	NM_000178.4(GSS):c.87G>A (p.Glu29=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3014366	NM_000178.4(GSS):c.129+16C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3014333	NM_000178.4(GSS):c.1020dup (p.Leu341fs)	GSS (L341fs)	Duplication (frameshift variant)	Inherited glutathione synthetase deficiency	GPathogenic
Select item 3005468	NM_000178.4(GSS):c.1329G>A (p.Lys443=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3004988	NM_000178.4(GSS):c.363G>C (p.Leu121=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3002587	NM_000178.4(GSS):c.273C>G (p.Ser91=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 3001939	NM_000178.4(GSS):c.207G>A (p.Gln69=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2997330	NM_000178.4(GSS):c.315C>T (p.Asp105=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2994638	NM_000178.4(GSS):c.1030-14C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2991576	NM_000178.4(GSS):c.243G>A (p.Gln81=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2988307	NM_000178.4(GSS):c.156C>T (p.Leu52=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2986901	NM_000178.4(GSS):c.129+18C>A	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2986595	NM_000178.4(GSS):c.1011C>T (p.Gly337=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2984118	NM_000178.4(GSS):c.767+12C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2980174	NM_000178.4(GSS):c.1112-4G>A	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2979272	NM_000178.4(GSS):c.198T>C (p.Tyr66=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2978061	NM_000178.4(GSS):c.189G>A (p.Glu63=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2976093	NM_000178.4(GSS):c.105del (p.Ser36fs)	GSS (S36fs)	Deletion (frameshift variant)	Inherited glutathione synthetase deficiency	GPathogenic
Select item 2969878	NM_000178.4(GSS):c.768-16C>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2967095	NM_000178.4(GSS):c.768-11C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2964800	NM_000178.4(GSS):c.1182C>T (p.Ser394=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2960015	NM_000178.4(GSS):c.540C>T (p.Leu180=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2959749	NM_000178.4(GSS):c.723T>C (p.Asp241=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2919669	NM_000178.4(GSS):c.690-6T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2916186	NM_000178.4(GSS):c.360C>T (p.Phe120=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2911793	NM_000178.4(GSS):c.609-6C>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2908720	NM_000178.4(GSS):c.807C>T (p.Gly269=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2906612	NM_000178.4(GSS):c.930G>A (p.Glu310=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2905141	NM_000178.4(GSS):c.130-12T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2904249	NM_000178.4(GSS):c.411C>T (p.Ser137=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2903932	NM_000178.4(GSS):c.588G>A (p.Trp196Ter)	GSS (W196*)	Single nucleotide variant (nonsense)	Inherited glutathione synthetase deficiency	GPathogenic
Select item 2902808	NM_000178.4(GSS):c.491+10del	GSS	Deletion (intron variant)	Inherited glutathione synthetase deficiency	GBenign
Select item 2901629	NM_000178.4(GSS):c.201T>C (p.Ala67=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2899661	NM_000178.4(GSS):c.615G>C (p.Leu205=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2894839	NM_000178.4(GSS):c.835-19T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2893658	NM_000178.4(GSS):c.1353C>G (p.Thr451=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2886987	NM_000178.4(GSS):c.1276C>T (p.Leu426=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2884912	NM_000178.4(GSS):c.1167T>C (p.Ser389=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2883872	NM_000178.4(GSS):c.351+12C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2883735	NM_000178.4(GSS):c.537C>T (p.Ile179=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2880819	NM_000178.4(GSS):c.276-7C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2879634	NM_000178.4(GSS):c.216C>T (p.Phe72=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2877418	NM_000178.4(GSS):c.49G>T (p.Glu17Ter)	GSS (E17*)	Single nucleotide variant (nonsense)	Inherited glutathione synthetase deficiency	GPathogenic
Select item 2874456	NM_000178.4(GSS):c.127G>T (p.Glu43Ter)	GSS (E43*)	Single nucleotide variant (nonsense)	Inherited glutathione synthetase deficiency	GPathogenic
Select item 2873869	NM_000178.4(GSS):c.689+14G>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2872339	NM_000178.4(GSS):c.1302-14C>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2871218	NM_000178.4(GSS):c.834+13T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2870278	NM_000178.4(GSS):c.789G>A (p.Val263=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2869914	NM_000178.4(GSS):c.1030-12G>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2868245	NM_000178.4(GSS):c.1029+14C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2867387	NM_000178.4(GSS):c.129+19C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2866595	NM_000178.4(GSS):c.1272A>G (p.Ser424=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2865588	NM_000178.4(GSS):c.129+17T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2863306	NM_000178.4(GSS):c.351+20C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2862669	NM_000178.4(GSS):c.969C>T (p.Gly323=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2860594	NM_000178.4(GSS):c.1389G>A (p.Ala463=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2860401	NM_000178.4(GSS):c.1302-11C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2859479	NM_000178.4(GSS):c.1050C>T (p.Ala350=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2858234	NM_000178.4(GSS):c.547_550del (p.Asn183fs)	GSS (N183fs)	Deletion (frameshift variant)	Inherited glutathione synthetase deficiency	GPathogenic
Select item 2854155	NM_000178.4(GSS):c.1030-15T>G	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2853259	NM_000178.4(GSS):c.738G>T (p.Gly246=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2847737	NM_000178.4(GSS):c.1120C>T (p.Leu374=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2846224	NM_000178.4(GSS):c.663T>G (p.Arg221=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2845056	NM_000178.4(GSS):c.357G>A (p.Val119=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2842472	NM_000178.4(GSS):c.130-15_130-14insTA	GSS	Insertion (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2842109	NM_000178.4(GSS):c.275+20T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2840754	NM_000178.4(GSS):c.1156C>T (p.Leu386=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2838176	NM_000178.4(GSS):c.1029+14del	GSS	Deletion (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2838171	NM_000178.4(GSS):c.276-16C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2838108	NM_000178.4(GSS):c.1112-18T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2837431	NM_000178.4(GSS):c.608+13A>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2836386	NM_000178.4(GSS):c.492-7C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2834752	NM_000178.4(GSS):c.1030-10C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2834539	NM_000178.4(GSS):c.1111+16T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2834152	NM_000178.4(GSS):c.768-12C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2834072	NM_000178.4(GSS):c.183G>A (p.Leu61=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2833591	NM_000178.4(GSS):c.361C>T (p.Leu121=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2832268	NM_000178.4(GSS):c.351+1G>C	GSS	Single nucleotide variant (splice donor variant)	Inherited glutathione synthetase deficiency	GLikely pathogenic
Select item 2832091	NM_000178.4(GSS):c.1281C>T (p.Gly427=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2830710	NM_000178.4(GSS):c.275+12T>C	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2830322	NM_000178.4(GSS):c.1206A>G (p.Glu402=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2829152	NM_000178.4(GSS):c.759G>A (p.Arg253=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2827337	NM_000178.4(GSS):c.1111+14C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2823959	NM_000178.4(GSS):c.1122A>G (p.Leu374=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2821905	NM_000178.4(GSS):c.480A>T (p.Pro160=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2820251	NM_000178.4(GSS):c.609-18C>T	GSS	Single nucleotide variant (intron variant)	Inherited glutathione synthetase deficiency	GLikely benign
Select item 2819254	NM_000178.4(GSS):c.275+1G>A	GSS	Single nucleotide variant (splice donor variant)	Inherited glutathione synthetase deficiency	GLikely pathogenic
Select item 2816205	NM_000178.4(GSS):c.1095C>T (p.Pro365=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency	GLikely benign

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