"3billion"[submitter] AND "SUCLA2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444289	NM_003850.3(SUCLA2):c.964+1G>A	SUCLA2	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GPathogenic
Select item 1526031	NM_003850.3(SUCLA2):c.370T>C (p.Ser124Pro)	SUCLA2 (S124P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance