"Revvity Omics, Revvity"[submitter] AND "ELAC2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5058	NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)	ELAC2 (R781H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1501545	NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp)	ELAC2 (R674W +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 1016087	NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter)	ELAC2 (W197*)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 66037	NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)	ELAC2 (F154L)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 2, susceptibility to +1 more	GPathogenic
Select item 415248	NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)	ELAC2 (S116F)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GConflicting classifications of pathogenicity
Select item 937598	NM_018127.7(ELAC2):c.245+2T>A	ELAC2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 17 +1 more	GPathogenic/Likely pathogenic

ClinVar