OPA3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 1263205	NM_001017989.3(OPA3):c.*190A>G	OPA3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1218317	NM_001017989.3(OPA3):c.*2A>T	OPA3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 549882	NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer)	OPA3	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 557243	NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp)	OPA3	Single nucleotide variant (stop lost)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 553316	NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln)	OPA3	Single nucleotide variant (stop lost)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549872	NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)	OPA3 (E179fs)	Indel (frameshift variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 747109	NM_001017989.3(OPA3):c.534C>T (p.Ser178=)	OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
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 1210520	NM_001017989.3(OPA3):c.486C>T (p.His162=)	OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +2 more	GBenign/Likely benign
Select item 1339789	NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)	OPA3 (A161T)	Single nucleotide variant (missense variant)	Optic atrophy 3 +1 more	Gnot provided
Select item 659433	NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)	OPA3 (Q157fs)	Duplication (frameshift variant)	3-Methylglutaconic aciduria type 3 +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 2650115	NM_001017989.3(OPA3):c.454C>T (p.Leu152=)	OPA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 557228	NM_001017989.3(OPA3):c.444_448del (p.Leu149fs)	OPA3 (L149fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549864	NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter)	OPA3 (E150*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549871	NM_001017989.3(OPA3):c.445del (p.Leu149fs)	OPA3 (L149fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 557552	NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter)	OPA3 (Q146*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549885	NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter)	OPA3 (Q141*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 790939	NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu)	OPA3 (Q139L)	Single nucleotide variant (missense variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 549877	NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter)	OPA3 (Q139*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 765658	NM_001017989.3(OPA3):c.414G>A (p.Ala138=)	OPA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1100041	NM_001017989.3(OPA3):c.406T>C (p.Leu136=)	OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
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 552985	NM_001017989.3(OPA3):c.380del (p.Gly127fs)	OPA3 (G127fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 555209	NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)	OPA3 (R115*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 1723087	NM_001017989.3(OPA3):c.331A>G (p.Lys111Glu)	OPA3 (K111E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 552615	NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)	OPA3 (Q105*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 2629480	NM_001017989.3(OPA3):c.302A>G (p.Tyr101Cys)	OPA3 (Y101C)	Single nucleotide variant (missense variant)	OPA3-related condition	GUncertain significance
Select item 558222	NM_001017989.3(OPA3):c.268_270del (p.Phe90del)	OPA3 (F90del)	Deletion (inframe_deletion)	3-Methylglutaconic aciduria type 3	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 553246	NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter)	OPA3 (E86*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549884	NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter)	OPA3 (E78*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 381038	NM_001017989.3(OPA3):c.222T>G (p.Gly74=)	OPA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 552346	NM_001017989.3(OPA3):c.221del (p.Gly74fs)	OPA3 (G74fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 552302	NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter)	OPA3 (E73*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
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 1291405	NM_001017989.3(OPA3):c.143-23_143-22del	OPA3	Deletion (intron variant)	not provided	GBenign
Select item 1246529	NM_001017989.3(OPA3):c.143-127C>G	OPA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263819	NM_001017989.3(OPA3):c.143-16698C>A	OPA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265299	NM_001017989.3(OPA3):c.143-16757T>C	OPA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 369267	NM_001017989.3(OPA3):c.143-16812G>A	OPA3	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 894743	NM_025136.4(OPA3):c.*7183G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329551	NM_025136.4(OPA3):c.*7181G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329552	NM_025136.4(OPA3):c.7096_7100del	OPA3	Deletion (3 prime UTR variant +1 more)	Optic Atrophy, Dominant +1 more	GUncertain significance
Select item 329553	NM_025136.4(OPA3):c.*7085A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GBenign/Likely benign
Select item 894744	NM_025136.4(OPA3):c.*7072A>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 892756	NM_025136.4(OPA3):c.*7018G>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329554	NM_025136.4(OPA3):c.*7015G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign/Likely benign
Select item 329555	NM_025136.4(OPA3):c.*6902G>A	OPA3	Single nucleotide variant (intron variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329556	NM_025136.4(OPA3):c.*6790T>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GBenign
Select item 329557	NM_025136.4(OPA3):c.*6773G>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329558	NM_025136.4(OPA3):c.*6767G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 893563	NM_025136.4(OPA3):c.*6766C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 893856	NM_025136.4(OPA3):c.*6698G>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329559	NM_025136.4(OPA3):c.*6688G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 329560	NM_025136.4(OPA3):c.*6674T>C	OPA3	Single nucleotide variant (intron variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893857	NM_025136.4(OPA3):c.*6626G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329561	NM_025136.4(OPA3):c.*6570G>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 894772	NM_025136.4(OPA3):c.*6554G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 329562	NM_025136.4(OPA3):c.*6461C>T	OPA3	Single nucleotide variant (intron variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329563	NM_025136.4(OPA3):c.*6442A>G	OPA3	Single nucleotide variant (intron variant +1 more)	Optic atrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 329564	NM_025136.4(OPA3):c.6436_6437insG	OPA3	Insertion (intron variant +1 more)	Optic Atrophy, Dominant +1 more	GUncertain significance
Select item 329565	NM_025136.4(OPA3):c.*6394G>A	OPA3	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 892795	NM_025136.4(OPA3):c.*6361G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329566	NM_025136.4(OPA3):c.*6294A>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign/Likely benign
Select item 329567	NM_025136.4(OPA3):c.*6289A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GConflicting classifications of pathogenicity
Select item 329568	NM_025136.4(OPA3):c.*6278G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329569	NM_025136.4(OPA3):c.*6275T>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 329570	NM_025136.4(OPA3):c.*6208C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 329571	NM_025136.4(OPA3):c.*6125G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893884	NM_025136.4(OPA3):c.*6124C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329572	NM_025136.4(OPA3):c.6104_6105del	OPA3	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 893885	NM_025136.4(OPA3):c.*6101A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 329573	NM_025136.4(OPA3):c.*6072A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893886	NM_025136.4(OPA3):c.*6046G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329574	NM_025136.4(OPA3):c.*6012A>G	OPA3	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GBenign
Select item 329575	NM_025136.4(OPA3):c.*5944G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 894279	NM_025136.4(OPA3):c.*5923G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329576	NM_025136.4(OPA3):c.*5905G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GBenign/Likely benign
Select item 329577	NM_025136.4(OPA3):c.*5888C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329578	NM_025136.4(OPA3):c.*5873C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 1247164	NM_025136.4(OPA3):c.*5809dup	OPA3	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 329579	NM_025136.4(OPA3):c.*5783G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329581	NM_025136.4(OPA3):c.*5774G>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329580	NM_025136.4(OPA3):c.*5774G>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329582	NM_025136.4(OPA3):c.*5739C>T	OPA3	Single nucleotide variant (intron variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893630	NM_025136.4(OPA3):c.*5730C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893916	NM_025136.4(OPA3):c.*5660A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893917	NM_025136.4(OPA3):c.*5644A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329583	NM_025136.4(OPA3):c.*5597C>T	OPA3	Single nucleotide variant (intron variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 893918	NM_025136.4(OPA3):c.*5570C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 894307	NM_025136.4(OPA3):c.*5565C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 329584	NM_025136.4(OPA3):c.*5525C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GBenign
Select item 329585	NM_025136.4(OPA3):c.*5523G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GBenign
Select item 894308	NM_025136.4(OPA3):c.*5510G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance

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