"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GCLC"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 715730	NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)	GCLC (D347N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 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 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 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 2682930	NM_001498.4(GCLC):c.166G>T (p.Val56Leu)	GCLC (V56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162985	NM_001498.4(GCLC):c.12G>A (p.Leu4=)	GCLC	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1162986	NM_001498.4(GCLC):c.-29AGG[11]	GCLC, LOC129996649	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 1330402	NM_001498.4(GCLC):c.-29AGG[4]	GCLC, LOC129996649	Microsatellite (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity