"Ambry Genetics"[submitter] AND "OPA3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1203152	NM_001017989.3(OPA3):c.514C>T (p.Pro172Ser)	OPA3 (P172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2394685	NM_001017989.3(OPA3):c.458G>A (p.Arg153His)	OPA3 (R153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 549871	NM_001017989.3(OPA3):c.445del (p.Leu149fs)	OPA3 (L149fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2258758	NM_001017989.3(OPA3):c.383A>T (p.His128Leu)	OPA3 (H128L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217900	NM_001017989.3(OPA3):c.265A>G (p.Ile89Val)	OPA3 (I89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1214649	NM_001017989.3(OPA3):c.258G>C (p.Glu86Asp)	OPA3 (E86D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2187920	NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)	OPA3 (Q146R)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 2334863	NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)	OPA3 (P145S)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3 +2 more	GUncertain significance
Select item 2267423	NM_025136.4(OPA3):c.134C>T (p.Pro45Leu)	OPA3 (P45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182154	NM_025136.4(OPA3):c.24G>A (p.Met8Ile)	LOC130064709, OPA3 (M8I)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance