ClinVar for Gene (Select 2729) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3853224	NM_001498.4(GCLC):c.1723A>G (p.Arg575Gly)	GCLC, GCLC-AS1 (R575G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3853223	NM_001498.4(GCLC):c.110T>C (p.Val37Ala)	GCLC (V37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3727784	NM_001498.4(GCLC):c.1212A>C (p.Thr404=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3727209	NM_001498.4(GCLC):c.952A>G (p.Lys318Glu)	GCLC (K280E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3718278	NM_001498.4(GCLC):c.264-5C>T	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3718103	NM_001498.4(GCLC):c.519C>T (p.Leu173=)	GCLC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3714184	NM_001498.4(GCLC):c.1482C>T (p.Gly494=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3714140	NM_001498.4(GCLC):c.345C>T (p.Ser115=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3688394	NM_001498.4(GCLC):c.1767A>G (p.Gln589=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3667915	NM_001498.4(GCLC):c.1198-15G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3663218	NM_001498.4(GCLC):c.560+17G>T	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3639252	NM_001498.4(GCLC):c.27G>T (p.Pro9=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3629086	NM_001498.4(GCLC):c.264-4G>A	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3622231	NM_001498.4(GCLC):c.620-4A>G	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3612624	NM_001498.4(GCLC):c.400A>G (p.Ile134Val)	GCLC (I134V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3607766	NM_001498.4(GCLC):c.711C>T (p.Tyr237=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3604499	NM_001498.4(GCLC):c.1497T>C (p.Asp499=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3519381	NM_001498.4(GCLC):c.1054A>G (p.Lys352Glu)	GCLC (K352E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3519380	NM_001498.4(GCLC):c.447A>C (p.Arg149Ser)	GCLC (R149S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3390083	NM_001498.4(GCLC):c.1791G>A (p.Met597Ile)	GCLC, GCLC-AS1 (M559I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3389589	NM_001498.4(GCLC):c.860G>A (p.Arg287Gln)	GCLC (R249Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379686	NM_001498.4(GCLC):c.487A>C (p.Asn163His)	GCLC (N163H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379684	NM_001498.4(GCLC):c.1036A>G (p.Ile346Val)	GCLC (I308V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363108	NM_001498.4(GCLC):c.473C>T (p.Pro158Leu)	GCLC	Single nucleotide variant (missense variant +1 more)	Gamma-glutamylcysteine synthetase deficiency	GPathogenic
Select item 3281021	NM_001498.4(GCLC):c.581G>A (p.Arg194Gln)	GCLC (R194Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281020	NM_001498.4(GCLC):c.497A>G (p.Glu166Gly)	GCLC (E166G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250577	NM_001498.4(GCLC):c.1484A>G (p.Asn495Ser)	GCLC, GCLC-AS1 (N457S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041181	NM_001498.4(GCLC):c.-29AGG[6]	GCLC, LOC129996649	Microsatellite (5 prime UTR variant)	GCLC-related disorder	GLikely benign
Select item 3036503	NM_001498.4(GCLC):c.948A>T (p.Pro316=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994600	NM_001498.4(GCLC):c.699G>A (p.Pro233=)	GCLC	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2993959	NM_001498.4(GCLC):c.1505G>T (p.Gly502Val)	GCLC, GCLC-AS1 (G464V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984795	NM_001498.4(GCLC):c.516C>T (p.Ser172=)	GCLC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981846	NM_001498.4(GCLC):c.1395+20T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967604	NM_001498.4(GCLC):c.946-15A>T	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967213	NM_001498.4(GCLC):c.754-12A>C	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956719	NM_001498.4(GCLC):c.1198-8T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921192	NM_001498.4(GCLC):c.1581+8G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920974	NM_001498.4(GCLC):c.1111G>A (p.Val371Ile)	GCLC (V371I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920915	NM_001498.4(GCLC):c.1395+7A>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896667	NM_001498.4(GCLC):c.1520G>T (p.Ser507Ile)	GCLC, GCLC-AS1 (S469I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861011	NM_001498.4(GCLC):c.1494G>A (p.Val498=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847191	NM_001498.4(GCLC):c.1084+16A>T	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841393	NM_001498.4(GCLC):c.1143A>C (p.Thr381=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835650	NM_001498.4(GCLC):c.1396-8T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768079	NM_001498.4(GCLC):c.330C>T (p.Tyr110=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760693	NM_001498.4(GCLC):c.1506C>T (p.Gly502=)	GCLC-AS1, GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747795	NM_001498.4(GCLC):c.828+14dup	GCLC	Duplication (intron variant)	not provided	GLikely benign
Select item 2708048	NM_001498.4(GCLC):c.1702+10C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702678	NM_001498.4(GCLC):c.1396-6C>T	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699583	NM_001498.4(GCLC):c.264-12T>C	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692516	NM_001498.4(GCLC):c.57C>G (p.Ala19=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2689123	NM_001498.4(GCLC):c.1538A>T (p.Glu513Val)	GCLC, GCLC-AS1 (E475V +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2689122	NM_001498.4(GCLC):c.1267A>G (p.Arg423Gly)	GCLC, GCLC-AS1 (R385G +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2689121	NM_001498.4(GCLC):c.1743C>G (p.Ile581Met)	GCLC, GCLC-AS1 (I543M +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2689120	NM_001498.4(GCLC):c.94C>T (p.His32Tyr)	GCLC (H32Y)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +1 more	GUncertain significance
Select item 2689119	NM_001498.4(GCLC):c.935G>A (p.Arg312Gln)	GCLC (R274Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689118	NM_001498.4(GCLC):c.1066G>A (p.Glu356Lys)	GCLC (E318K +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2685204	GRCh37/hg19 6p12.1(chr6:53118769-53380140)x1	ELOVL5, GCLC	Copy number loss	not provided	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2682930	NM_001498.4(GCLC):c.166G>T (p.Val56Leu)	GCLC (V56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673063	NM_001498.4(GCLC):c.1608A>T (p.Pro536=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663934	NM_001498.4(GCLC):c.1907C>G (p.Ser636Cys)	GCLC, GCLC-AS1 (S598C +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2597128	NM_001498.4(GCLC):c.1048A>G (p.Ile350Val)	GCLC (I350V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594446	NM_001498.4(GCLC):c.1791G>T (p.Met597Ile)	GCLC, GCLC-AS1 (M559I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500435	NM_001498.4(GCLC):c.197G>A (p.Arg66Gln)	GCLC (R66Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432090	NM_001498.4(GCLC):c.1478-3C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2432089	NM_001498.4(GCLC):c.364G>C (p.Ala122Pro)	GCLC (A122P)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2432088	NM_001498.4(GCLC):c.196C>T (p.Arg66Trp)	GCLC (R66W)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +1 more	GUncertain significance
Select item 2432087	NM_001498.4(GCLC):c.1106A>G (p.Gln369Arg)	GCLC (Q331R +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2432086	NM_001498.4(GCLC):c.1280G>C (p.Arg427Pro)	GCLC, GCLC-AS1 (R389P +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2432085	NM_001498.4(GCLC):c.1004A>G (p.Tyr335Cys)	GCLC (Y297C +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2432084	NM_001498.4(GCLC):c.346G>A (p.Glu116Lys)	GCLC (E116K)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	GUncertain significance
Select item 2428754	NM_001498.4(GCLC):c.447-3T>C	GCLC	Single nucleotide variant (intron variant)	Gamma-glutamylcysteine synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2428567	NM_001498.4(GCLC):c.-34C>T	GCLC, LOC129996649	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2428512	NM_001498.4(GCLC):c.1523C>T (p.Thr508Met)	GCLC, GCLC-AS1 (T470M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351414	NM_001498.4(GCLC):c.622T>C (p.Phe208Leu)	GCLC (F208L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280048	NM_001498.4(GCLC):c.1864G>T (p.Ala622Ser)	GCLC, GCLC-AS1 (A622S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262557	NM_001498.4(GCLC):c.622T>A (p.Phe208Ile)	GCLC (F170I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252420	NM_001498.4(GCLC):c.82C>A (p.Leu28Ile)	GCLC (L28I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192651	NM_001498.4(GCLC):c.331G>A (p.Gly111Arg)	GCLC (G111R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177515	NM_001498.4(GCLC):c.754-7T>A	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2163774	NM_001498.4(GCLC):c.775A>G (p.Ile259Val)	GCLC (I259V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2098244	NM_001498.4(GCLC):c.6G>A (p.Gly2=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097163	NM_001498.4(GCLC):c.795T>A (p.Leu265=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084290	NM_001498.4(GCLC):c.1427G>T (p.Arg476Ile)	GCLC, GCLC-AS1 (R438I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2075036	NM_001498.4(GCLC):c.1818C>T (p.Asn606=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069479	NM_001498.4(GCLC):c.1531G>A (p.Ala511Thr)	GCLC, GCLC-AS1 (A511T +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +1 more	GUncertain significance
Select item 2067484	NM_001498.4(GCLC):c.892G>A (p.Gly298Arg)	GCLC (G260R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057703	NM_001498.4(GCLC):c.1735G>A (p.Glu579Lys)	GCLC, GCLC-AS1 (E541K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046265	NM_001498.4(GCLC):c.1051G>C (p.Asp351His)	GCLC (D313H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038753	NM_001498.4(GCLC):c.1396-17T>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013661	NM_001498.4(GCLC):c.1702+15T>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987259	NM_001498.4(GCLC):c.561-20C>T	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978414	NM_001498.4(GCLC):c.1197+5C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1975308	NM_001498.4(GCLC):c.965A>G (p.Tyr322Cys)	GCLC (Y284C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969299	NM_001498.4(GCLC):c.1575T>C (p.Asn525=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960545	NM_001498.4(GCLC):c.474C>T (p.Pro158=)	GCLC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1951629	NM_001498.4(GCLC):c.1581+19A>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948333	NM_001498.4(GCLC):c.1395+15C>T	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934431	NM_001498.4(GCLC):c.1909A>G (p.Asn637Asp)	GCLC, GCLC-AS1 (N637D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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