"OMIM"[submitter] AND "OPA3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21710	NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)	OPA3 (Q139*)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 4242	NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)	OPA3	Deletion (inframe_deletion +1 more)	3-Methylglutaconic aciduria type 3	GPathogenic
Select item 4241	NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	OPA3 (Q105E)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GPathogenic
Select item 4240	NM_025136.4(OPA3):c.277G>A (p.Gly93Ser)	OPA3 (G93S)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3	GPathogenic
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 918005	NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)	LOC130064709, OPA3 (L11Q)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3	GPathogenic

ClinVar