C2749864[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436520	NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val)	SUCLA2 (I381V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 667329	NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)	SUCLA2 (M329V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 448536	NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn)	SUCLA2 (D315N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +2 more	GUncertain significance
Select item 522686	NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)	SUCLA2 (D272V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GConflicting classifications of pathogenicity
Select item 203956	NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly)	SUCLA2 (E206G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2436519	NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr)	SUCLA2 (C152Y)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2690169	NM_003850.3(SUCLA2):c.442A>G (p.Lys148Glu)	SUCLA2 (K148E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance