"PreventionGenetics, part of Exact Sciences"[submitter] AND "OPA3"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2629480	NM_001017989.3(OPA3):c.302A>G (p.Tyr101Cys)	OPA3 (Y101C)	Single nucleotide variant (missense variant)	OPA3-related disorder	GUncertain significance
Select item 449077	NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)	OPA3 (R160C)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +3 more	GConflicting classifications of pathogenicity
Select item 1305206	NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)	OPA3 (A142P)	Single nucleotide variant (missense variant +1 more)	OPA3-related disorder +3 more	GUncertain significance
Select item 3042559	NM_025136.4(OPA3):c.398T>G (p.Leu133Arg)	OPA3 (L133R)	Single nucleotide variant (missense variant +1 more)	OPA3-related disorder	GUncertain significance
Select item 1592754	NM_025136.4(OPA3):c.351T>C (p.Ala117=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	OPA3-related disorder +2 more	GLikely benign
Select item 507946	NM_025136.4(OPA3):c.336G>A (p.Glu112=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +3 more	GLikely benign
Select item 21709	NM_025136.4(OPA3):c.231T>C (p.Ala77=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 2635410	NM_025136.4(OPA3):c.199G>T (p.Val67Phe)	OPA3 (V67F)	Single nucleotide variant (missense variant +1 more)	OPA3-related disorder	GUncertain significance
Select item 894212	NM_025136.4(OPA3):c.123C>G (p.Ile41Met)	OPA3 (I41M)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +5 more	GConflicting classifications of pathogenicity
Select item 2946297	NM_025136.4(OPA3):c.7G>C (p.Val3Leu)	LOC130064709, OPA3 (V3L)	Single nucleotide variant (missense variant)	OPA3-related disorder +2 more	GUncertain significance
Select item 1462625	NM_025136.4(OPA3):c.6G>A (p.Val2=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +2 more	GLikely benign