Related gene-specific medical variations for Gene (Select 2729) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2981846	NM_001498.4(GCLC):c.1395+20T>C	GCLC, GCLC-AS1	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-AS1, GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2835650	NM_001498.4(GCLC):c.1396-8T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760693	NM_001498.4(GCLC):c.1506C>T (p.Gly502=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous 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 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 2689119	NM_001498.4(GCLC):c.935G>A (p.Arg312Gln)	GCLC (R274Q +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency	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 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 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 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	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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2428567	NM_001498.4(GCLC):c.-34C>T	LOC129996649, GCLC	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 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 2084290	NM_001498.4(GCLC):c.1427G>T (p.Arg476Ile)	GCLC, GCLC-AS1 (R438I +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +1 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)	not provided +1 more	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 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 1978414	NM_001498.4(GCLC):c.1197+5C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron 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 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
Select item 1916326	NM_001498.4(GCLC):c.1874A>G (p.Lys625Arg)	GCLC, GCLC-AS1 (K587R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913988	NM_001498.4(GCLC):c.1582-14C>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701505	NM_001498.4(GCLC):c.1303_1311delinsCCTAGAC (p.Asp435fs)	GCLC, GCLC-AS1 (D397fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1646527	NM_001498.4(GCLC):c.1291-16G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560784	NM_001498.4(GCLC):c.1477+10T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1448042	NM_001498.4(GCLC):c.1499G>A (p.Gly500Asp)	GCLC, GCLC-AS1 (G500D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333168	NM_001498.4(GCLC):c.-29AGG[10]	GCLC, LOC129996649	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1330938	NM_001498.4(GCLC):c.1478-16C>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1330891	NM_001498.4(GCLC):c.828+13T>C	GCLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1330870	NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser)	GCLC, GCLC-AS1 (A458S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1330822	NM_001498.4(GCLC):c.565T>C (p.Leu189=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330719	NM_001498.4(GCLC):c.1703-8G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1330402	NM_001498.4(GCLC):c.-29AGG[4]	GCLC, LOC129996649	Microsatellite (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 1294105	NM_001498.4(GCLC):c.-29AGG[9]	GCLC, LOC129996649	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1289924	NM_001498.4(GCLC):c.1395+83A>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278938	NM_001498.4(GCLC):c.1703-183C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278849	NM_001498.4(GCLC):c.1703-45del	GCLC, GCLC-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1267804	NM_001498.4(GCLC):c.1395+176C>T	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251336	NM_001498.4(GCLC):c.1198-59T>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246572	NM_001498.4(GCLC):c.1396-63G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235148	NM_001498.4(GCLC):c.1291-101G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229628	NM_001498.4(GCLC):c.1581+26C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225691	NM_001498.4(GCLC):c.*59AGCC[1]	GCLC, GCLC-AS1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1222945	NM_001498.4(GCLC):c.1197+251T>C	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1162986	NM_001498.4(GCLC):c.-29AGG[11]	GCLC, LOC129996649	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 995642	NM_001498.4(GCLC):c.1703-19G>A	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995605	NM_001498.4(GCLC):c.1632C>T (p.Asn544=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 993653	NM_001498.4(GCLC):c.500G>A (p.Gly167Glu)	GCLC (G167E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 993649	NM_001498.4(GCLC):c.380G>A (p.Arg127His)	GCLC (R127H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993613	NM_001498.4(GCLC):c.646C>G (p.Pro216Ala)	GCLC (P178A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993574	NM_001498.4(GCLC):c.26C>G (p.Pro9Arg)	GCLC (P9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993395	NM_001498.4(GCLC):c.1787A>C (p.Glu596Ala)	GCLC, GCLC-AS1 (E558A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811041	NM_001498.4(GCLC):c.1703-11C>G	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790349	NM_001498.4(GCLC):c.1478-6C>T	GCLC, GCLC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788729	NM_001498.4(GCLC):c.1743C>T (p.Ile581=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732959	NM_001498.4(GCLC):c.1524G>A (p.Thr508=)	GCLC, GCLC-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 708373	NM_001498.4(GCLC):c.1563C>T (p.Asp521=)	GCLC-AS1, GCLC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 618661	NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)	GCLC, GCLC-AS1 (P462S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 446101	NM_001498.4(GCLC):c.-29AGG[8]	GCLC, LOC129996649	Microsatellite (5 prime UTR variant)	not provided	GBenign

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Items: 82