"Blueprint Genetics"[submitter] AND "OPA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805095	NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)	OPA1 (R38*)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866529	NM_130837.3(OPA1):c.780_781del (p.Lys261fs)	OPA1, OPA1-AS1 (K243fs +4 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 866156	NM_130837.3(OPA1):c.908T>A (p.Leu303Ter)	OPA1 (L124* +9 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866278	NM_130837.3(OPA1):c.1630A>G (p.Lys544Glu)	OPA1 (K365E +9 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866805	NM_130837.3(OPA1):c.1769A>C (p.Lys590Thr)	LOC126806913, OPA1 (K411T +9 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
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 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	OPA1-related condition +8 more	GPathogenic/Likely pathogenic

ClinVar