"Fulgent Genetics, Fulgent Genetics"[submitter] AND "OPA3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549872	NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)	OPA3 (E179fs)	Indel (frameshift variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 549871	NM_001017989.3(OPA3):c.445del (p.Leu149fs)	OPA3 (L149fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 765658	NM_001017989.3(OPA3):c.414G>A (p.Ala138=)	OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +2 more	GLikely benign
Select item 4239	NM_025136.4(OPA3):c.143-1G>C	OPA3	Single nucleotide variant (intron variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GPathogenic
Select item 894212	NM_025136.4(OPA3):c.123C>G (p.Ile41Met)	OPA3 (I41M)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +5 more	GConflicting classifications of pathogenicity
Select item 138572	NM_025136.4(OPA3):c.-38A>G	LOC130064709, OPA3	Single nucleotide variant (5 prime UTR variant)	Optic atrophy 3 +2 more	GBenign/Likely benign

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