Related gene-specific medical variations for Gene (Select 80207) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248434	NC_000019.9:g.(?_46056772)_(46057189_?)del	OPA3	Deletion	Optic atrophy 3 +1 more	GLikely pathogenic
Select item 3248433	NC_000019.9:g.(?_46056772)_(46088022_?)del	OPA3	Deletion	Optic atrophy 3 +1 more	GPathogenic
Select item 3239999	NM_025136.4(OPA3):c.411_422delinsC (p.Gln137fs)	OPA3 (Q137fs)	Indel (frameshift variant +1 more)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 2949856	NM_025136.4(OPA3):c.18C>T (p.Phe6=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2946297	NM_025136.4(OPA3):c.7G>C (p.Val3Leu)	LOC130064709, OPA3 (V3L)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 2943383	NM_025136.4(OPA3):c.21T>A (p.Pro7=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2937381	NM_025136.4(OPA3):c.27G>A (p.Ala9=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2931858	NM_025136.4(OPA3):c.23T>C (p.Met8Thr)	LOC130064709, OPA3 (M8T)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2928329	NM_025136.4(OPA3):c.12C>T (p.Gly4=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2677424	NM_025136.4(OPA3):c.45del (p.Ile16fs)	OPA3, LOC130064709 (I16fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
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 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 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 2434505	NM_025136.4(OPA3):c.235C>A (p.Leu79Met)	OPA3 (L79M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434504	NM_025136.4(OPA3):c.410A>T (p.Gln137Leu)	OPA3 (Q137L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2421928	NM_025136.4(OPA3):c.40T>G (p.Leu14Val)	LOC130064709, OPA3 (L14V)	Single nucleotide variant (missense variant)	Optic atrophy 3 +1 more	GUncertain significance
Select item 2197733	NM_025136.4(OPA3):c.34C>G (p.Leu12Val)	OPA3, LOC130064709 (L12V)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2182154	NM_025136.4(OPA3):c.24G>A (p.Met8Ile)	LOC130064709, OPA3 (M8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2142280	NM_025136.4(OPA3):c.45C>T (p.Gly15=)	OPA3, LOC130064709	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2097973	NM_025136.4(OPA3):c.15G>A (p.Ala5=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2053052	NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)	LOC130064709, OPA3 (A9T)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1934091	NM_025136.4(OPA3):c.81del (p.Lys28fs)	LOC130064709, OPA3 (K28fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1722308	NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)	LOC130064709, OPA3 (K10N)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1714394	NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)	LOC130064709, OPA3 (N25D)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1670678	NM_025136.4(OPA3):c.30G>A (p.Lys10=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1576343	NM_025136.4(OPA3):c.72C>T (p.Ala24=)	OPA3, LOC130064709	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1574211	NM_025136.4(OPA3):c.6G>C (p.Val2=)	OPA3, LOC130064709	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1558662	NM_025136.4(OPA3):c.40T>C (p.Leu14=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1537110	NM_025136.4(OPA3):c.75C>T (p.Asn25=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 1502579	NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)	LOC130064709, OPA3 (F6S)	Single nucleotide variant (missense variant)	Optic atrophy 3 +1 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 +1 more	GLikely benign
Select item 1324830	NM_025136.4(OPA3):c.194del (p.Gly65fs)	OPA3 (G65fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1304229	NM_025136.4(OPA3):c.59G>A (p.Ser20Asn)	LOC130064709, OPA3 (S20N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176709	NM_025136.4(OPA3):c.22A>G (p.Met8Val)	LOC130064709, OPA3 (M8V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1137418	NM_025136.4(OPA3):c.78T>C (p.Arg26=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1114462	NM_025136.4(OPA3):c.33G>A (p.Leu11=)	OPA3, LOC130064709	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1092870	NM_025136.4(OPA3):c.66G>T (p.Pro22=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1067581	NM_025136.4(OPA3):c.1A>G (p.Met1Val)	LOC130064709, OPA3 (M1V)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely pathogenic
Select item 1023276	NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)	LOC130064709, OPA3 (R26L)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 991181	NM_025136.4(OPA3):c.15G>C (p.Ala5=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 991180	NM_025136.4(OPA3):c.416A>G (p.Gln139Arg)	OPA3 (Q139R)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 918005	NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)	LOC130064709, OPA3 (L11Q)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3	GPathogenic
Select item 812674	NM_025136.4(OPA3):c.43G>C (p.Gly15Arg)	LOC130064709, OPA3 (G15R)	Single nucleotide variant (missense variant)	Foveal hypoplasia	GUncertain significance
Select item 796160	NM_025136.4(OPA3):c.57C>T (p.Val19=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 757675	NM_025136.4(OPA3):c.39C>T (p.Tyr13=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 620409	NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	OPA3, LOC130064709 (Q18*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3 +2 more	GPathogenic/Likely pathogenic
Select item 585025	NM_025136.4(OPA3):c.55G>A (p.Val19Ile)	OPA3, LOC130064709 (V19I)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 556289	NM_025136.4(OPA3):c.2TGG[2] (p.Val3del)	LOC130064709, OPA3 (V3del)	Microsatellite (inframe_deletion +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 555674	NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)	LOC130064709, OPA3 (K21*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 552269	NM_025136.4(OPA3):c.-7C>G	LOC130064709, OPA3	Single nucleotide variant (5 prime UTR variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 430549	NM_025136.4(OPA3):c.30G>T (p.Lys10Asn)	LOC130064709, OPA3 (K10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284628	NM_025136.4(OPA3):c.33G>T (p.Leu11=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +2 more	GConflicting classifications of pathogenicity
Select item 138572	NM_025136.4(OPA3):c.-38A>G	LOC130064709, OPA3	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign

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Items: 54