"Revvity Omics, Revvity"[submitter] AND "GCLC"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2069479	NM_001498.4(GCLC):c.1531G>A (p.Ala511Thr)	GCLC-AS1, GCLC (A511T +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +1 more	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 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 2432086	NM_001498.4(GCLC):c.1280G>C (p.Arg427Pro)	GCLC-AS1, GCLC (R389P +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 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 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 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 2689119	NM_001498.4(GCLC):c.935G>A (p.Arg312Gln)	GCLC (R274Q +1 more)	Single nucleotide variant (missense variant)	Gamma-glutamylcysteine synthetase deficiency +1 more	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 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 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 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 2689120	NM_001498.4(GCLC):c.94C>T (p.His32Tyr)	GCLC (H32Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance