ClinVar for MedGen (Select 335756) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 432856	NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)	OPA1 (R818W +9 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 432381	NM_130837.3(OPA1):c.2429G>A (p.Arg810His)	OPA1 (R755H +9 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia +6 more	GUncertain significance
Select item 344482	NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)	OPA1, OPA1-AS1 (S200F +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 299210	NM_001008212.2(OPTN):c.402C>A (p.Ala134=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +5 more	GBenign/Likely benign
Select item 7099	NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)	LOC108903148, OPTN (M98K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +5 more	GBenign/Likely benign
Select item 5089	NM_015560.2(OPA1):c.[870+32T>C;870+4T=]	OPA1	Single nucleotide variant (intron variant)	Glaucoma, normal tension, susceptibility to	Grisk factor
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	OPA1-related condition +8 more	GPathogenic/Likely pathogenic

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