C1833809[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4241	NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	OPA3 (Q105E)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GPathogenic
Select item 4240	NM_025136.4(OPA3):c.277G>A (p.Gly93Ser)	OPA3 (G93S)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3	GPathogenic
Select item 4239	NM_025136.4(OPA3):c.143-1G>C	OPA3	Single nucleotide variant (intron variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GPathogenic

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