"Revvity Omics, Revvity"[submitter] AND "OPA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 344479	NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)	OPA1 (R85C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2690661	NM_130837.3(OPA1):c.533del (p.Leu178fs)	OPA1 (L178fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 214911	NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp)	OPA1 (R781W +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 225121	NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter)	OPA1 (R824* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2434502	NM_130837.3(OPA1):c.2816A>G (p.Gln939Arg)	OPA1 (Q760R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +8 more	GPathogenic/Likely pathogenic

ClinVar