C0574084[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214929	NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)	OPA3 (G62S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1029950	NM_025136.4(OPA3):c.367C>T (p.Arg123Trp)	OPA3 (R123W)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 2677420	NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)	OPA3 (Q105*)	Single nucleotide variant (intron variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2677423	NM_025136.4(OPA3):c.287del (p.Cys96fs)	OPA3 (C96fs)	Deletion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 2677422	NM_025136.4(OPA3):c.227dup (p.Ala77fs)	OPA3 (A77fs)	Duplication (frameshift variant +1 more)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 2677419	NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)	OPA3 (E73*)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
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
Select item 552448	NM_025136.4(OPA3):c.142+1G>A	OPA3	Single nucleotide variant (splice donor variant)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 2677421	NM_025136.4(OPA3):c.97C>T (p.Arg33Ter)	OPA3 (R33*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 2677424	NM_025136.4(OPA3):c.45del (p.Ile16fs)	OPA3, LOC130064709 (I16fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GLikely pathogenic