C3276549[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5084	NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	OPA1 (R345Q +8 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +2 more	GPathogenic/Likely pathogenic
Select item 50866	NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	OPA1 (I437M +8 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia +7 more	GConflicting classifications of pathogenicity
Select item 30460	NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)	OPA1 (I432V +9 more)	Single nucleotide variant (missense variant)	Mitochondrial disease +1 more	GPathogenic
Select item 30462	NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)	OPA1 (G439V +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 5091	NM_130837.3(OPA1):c.1499G>A (p.Arg500His)	OPA1 (R500H +8 more)	Single nucleotide variant (missense variant)	OPA1-Related Disorders +2 more	GPathogenic
Select item 30461	NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)	LOC126806913, OPA1 (S545R +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 225120	NM_130837.3(OPA1):c.1817G>A (p.Cys606Tyr)	LOC126806913, OPA1 (C551Y +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 5090	NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys)	OPA1 (Y582C +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
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
Select item 30463	NM_130837.3(OPA1):c.2894T>A (p.Val965Asp)	OPA1 (V910D +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 5092	NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)	OPA1 (D827fs +9 more)	Deletion (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GPathogenic