ClinVar for MedGen (Select 108273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068598	NM_025136.4(OPA3):c.176G>C (p.Arg59Pro)	OPA3 (R59P)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 2954344	NM_025136.4(OPA3):c.501C>T (p.Gly167=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2953219	NM_025136.4(OPA3):c.142+13C>G	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2952796	NM_025136.4(OPA3):c.252G>T (p.Leu84=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2951401	NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)	OPA3 (Q162E)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2950951	NM_025136.4(OPA3):c.282C>A (p.Gly94=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2950885	NM_025136.4(OPA3):c.504G>T (p.Arg168=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
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 2949458	NM_025136.4(OPA3):c.142+9G>C	OPA3	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2947534	NM_025136.4(OPA3):c.143-5dup	OPA3	Duplication (intron variant)	3-Methylglutaconic aciduria type 3 +1 more	GBenign
Select item 2947311	NM_025136.4(OPA3):c.489C>T (p.Leu163=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2946436	NM_025136.4(OPA3):c.135G>C (p.Pro45=)	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)	OPA3-related condition +2 more	GUncertain significance
Select item 2945369	NM_025136.4(OPA3):c.142+12C>A	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2944510	NM_025136.4(OPA3):c.360C>T (p.Asn120=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2943573	NM_025136.4(OPA3):c.99A>G (p.Arg33=)	OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
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 2943282	NM_025136.4(OPA3):c.250C>T (p.Leu84=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2943264	NM_025136.4(OPA3):c.504G>A (p.Arg168=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2943231	NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)	OPA3 (R123P)	Indel (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2940249	NM_025136.4(OPA3):c.142+9G>A	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2939168	NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)	OPA3 (A76S)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 2939117	NM_025136.4(OPA3):c.288C>T (p.Cys96=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2937381	NM_025136.4(OPA3):c.27G>A (p.Ala9=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2936999	NM_025136.4(OPA3):c.456G>A (p.Leu152=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2936581	NM_025136.4(OPA3):c.142+13C>A	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2936486	NM_025136.4(OPA3):c.143-12C>T	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2936445	NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)	OPA3 (E74K)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 2936373	NM_025136.4(OPA3):c.198G>A (p.Thr66=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2936214	NM_025136.4(OPA3):c.168C>T (p.Thr56=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2935436	NM_025136.4(OPA3):c.237G>T (p.Leu79=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2934986	NM_025136.4(OPA3):c.123C>T (p.Ile41=)	OPA3	Single nucleotide variant (synonymous variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2934948	NM_025136.4(OPA3):c.275T>C (p.Val92Ala)	OPA3 (V92A)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 2934942	NM_025136.4(OPA3):c.456G>T (p.Leu152=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2934726	NM_025136.4(OPA3):c.142+17T>A	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2934351	NM_025136.4(OPA3):c.143-16CT[2]	OPA3	Microsatellite (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2934220	NM_025136.4(OPA3):c.240C>T (p.Gly80=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +1 more	GLikely benign
Select item 2933771	NM_025136.4(OPA3):c.143-12C>G	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2933581	NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)	OPA3 (A106T)	Single nucleotide variant (intron variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2933516	NM_025136.4(OPA3):c.117C>T (p.Thr39=)	OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2933063	NM_025136.4(OPA3):c.143-16C>G	OPA3	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2932531	NM_025136.4(OPA3):c.142+3_142+6del	OPA3	Deletion (splice donor variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2932188	NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)	OPA3 (E86K)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
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 2931230	NM_025136.4(OPA3):c.142+11C>T	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 2930268	NM_025136.4(OPA3):c.362C>T (p.Ala121Val)	OPA3 (A121V)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 2928991	NM_025136.4(OPA3):c.471A>G (p.Gln157=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
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 2928079	NM_025136.4(OPA3):c.395C>T (p.Ala132Val)	OPA3 (A132V)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2926521	NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)	OPA3 (A143P)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 2925571	NM_025136.4(OPA3):c.435A>G (p.Pro145=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2925180	NM_025136.4(OPA3):c.143-16C>A	OPA3	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2924834	NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)	OPA3 (K57R)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2922140	NM_025136.4(OPA3):c.393G>A (p.Leu131=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2922127	NM_025136.4(OPA3):c.414G>T (p.Ala138=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2683843	NM_025136.4(OPA3):c.439_440del (p.Gly147fs)	OPA3 (G147fs)	Deletion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
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 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 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 2421928	NM_025136.4(OPA3):c.40T>G (p.Leu14Val)	LOC130064709, OPA3 (L14V)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2419728	NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)	OPA3 (R153L)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 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 2199161	NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)	OPA3	Indel (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2197733	NM_025136.4(OPA3):c.34C>G (p.Leu12Val)	LOC130064709, OPA3 (L12V)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2195198	NM_025136.4(OPA3):c.289C>G (p.Leu97Val)	OPA3 (L97V)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2191393	NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)	OPA3 (T39A)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2190228	NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)	OPA3 (W51*)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely pathogenic
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 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
Select item 2180711	NM_025136.4(OPA3):c.142+20C>T	OPA3	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2180243	NM_025136.4(OPA3):c.225G>A (p.Ala75=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2167395	NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)	OPA3 (A118P)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2166890	NM_025136.4(OPA3):c.417G>C (p.Gln139His)	OPA3 (Q139H)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 2166810	NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)	OPA3 (E74*)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2160881	NM_025136.4(OPA3):c.121A>G (p.Ile41Val)	OPA3 (I41V)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2157271	NM_025136.4(OPA3):c.143-17C>T	OPA3	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2155995	NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)	OPA3 (E113K)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2147398	NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)	OPA3 (E150Q)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2142611	NM_025136.4(OPA3):c.210G>A (p.Pro70=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2142280	NM_025136.4(OPA3):c.45C>T (p.Gly15=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2134711	NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)	OPA3 (P145L)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2134287	NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)	OPA3 (N120K)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2131429	NM_025136.4(OPA3):c.513C>T (p.Ser171=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2128878	NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)	OPA3 (E35*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3 +1 more	GPathogenic
Select item 2128324	NM_025136.4(OPA3):c.247C>T (p.Leu83=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2116836	NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)	OPA3 (E125Q)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2111615	NM_025136.4(OPA3):c.84G>A (p.Lys28=)	OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2108403	NM_025136.4(OPA3):c.228A>T (p.Ala76=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2104403	NM_025136.4(OPA3):c.132G>C (p.Pro44=)	OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2098816	NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)	OPA3 (G127D)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
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 2097531	NM_025136.4(OPA3):c.89C>T (p.Ala30Val)	OPA3 (A30V)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2093469	NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)	OPA3 (A46T)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2084515	NM_025136.4(OPA3):c.342G>A (p.Glu114=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2083317	NM_025136.4(OPA3):c.477G>T (p.Val159=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2083156	NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)	OPA3 (Q162*)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2080070	NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)	OPA3 (W102G)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance

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