"GeneDx"[submitter] AND "OPA3"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	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 1203152	NM_001017989.3(OPA3):c.514C>T (p.Pro172Ser)	OPA3 (P172S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1210520	NC_000019.10:g.45529113G>A	OPA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2650115	NM_001017989.3(OPA3):c.454C>T (p.Leu152=)	OPA3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 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 381038	NM_025136.3(OPA3):c.*24137T>G	OPA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3369807	NM_001017989.3(OPA3):c.216C>G (p.Asn72Lys)	OPA3 (N72K)	Single nucleotide variant (missense variant)	not provided	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 329553	NM_025136.4(OPA3):c.*7085A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign/Likely benign
Select item 329554	NM_025136.4(OPA3):c.*7015G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GBenign/Likely benign
Select item 329563	NM_025136.4(OPA3):c.*6442A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 329565	NM_025136.4(OPA3):c.*6394G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign/Likely benign
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 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)	not provided +2 more	GConflicting classifications of pathogenicity
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)	3-Methylglutaconic aciduria type 3 +2 more	GConflicting classifications of pathogenicity
Select item 329574	NM_025136.4(OPA3):c.*6012A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign
Select item 329576	NM_025136.4(OPA3):c.*5905G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1247164	NM_025136.4(OPA3):c.*5809dup	OPA3	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1342117	NM_025136.4(OPA3):c.*5365C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 329590	NM_025136.4(OPA3):c.*4954C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1800527	NM_025136.4(OPA3):c.4857_4858insC	OPA3	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 329594	NM_025136.4(OPA3):c.*4857A>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign
Select item 329596	NM_025136.4(OPA3):c.4850_4852del	OPA3	Deletion (intron variant +1 more)	Optic Atrophy, Dominant +2 more	GBenign
Select item 329597	NM_025136.4(OPA3):c.*4794C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign/Likely benign
Select item 329628	NM_025136.4(OPA3):c.*3222C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign/Likely benign
Select item 329629	NM_025136.4(OPA3):c.*3212G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign
Select item 329631	NM_025136.4(OPA3):c.*3111AGC[3]	OPA3	Microsatellite (3 prime UTR variant +1 more)	Optic Atrophy, Dominant +2 more	GBenign
Select item 329632	NM_025136.4(OPA3):c.*3038G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign
Select item 329647	NM_025136.4(OPA3):c.*1950G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 329649	NM_025136.4(OPA3):c.*1855T>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign/Likely benign
Select item 329650	NM_025136.4(OPA3):c.*1836C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GConflicting classifications of pathogenicity
Select item 329652	NM_025136.4(OPA3):c.*1760C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 329653	NM_025136.4(OPA3):c.*1642A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 329671	NM_025136.4(OPA3):c.*638T>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign
Select item 329672	NM_025136.4(OPA3):c.*577T>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GBenign
Select item 329677	NM_025136.4(OPA3):c.*362T>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign/Likely benign
Select item 329681	NM_025136.4(OPA3):c.*272G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GBenign
Select item 329682	NM_025136.4(OPA3):c.*152G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +2 more	GBenign
Select item 214928	NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)	OPA3	Single nucleotide variant (stop lost +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 386291	NM_025136.4(OPA3):c.537A>G (p.Lys179=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +3 more	GBenign/Likely benign
Select item 214926	NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)	OPA3 (K178E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 680432	NM_025136.4(OPA3):c.519A>G (p.Ala173=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GLikely benign
Select item 214925	NM_025136.4(OPA3):c.508G>A (p.Ala170Thr)	OPA3 (A170T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1313103	NM_025136.4(OPA3):c.503G>A (p.Arg168Gln)	OPA3 (R168Q)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 449077	NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)	OPA3 (R160C)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GConflicting classifications of pathogenicity
Select item 388463	NM_025136.4(OPA3):c.445C>T (p.Leu149=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GLikely benign
Select item 1314371	NM_025136.4(OPA3):c.425C>T (p.Ala142Val)	OPA3 (A142V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1305206	NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)	OPA3 (A142P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 214924	NM_025136.4(OPA3):c.424G>T (p.Ala142Ser)	OPA3 (A142S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214923	NM_025136.4(OPA3):c.423G>C (p.Gln141His)	OPA3 (Q141H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280981	NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)	OPA3 (A138T)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +3 more	GBenign/Likely benign
Select item 1695859	NM_025136.4(OPA3):c.389C>T (p.Ala130Val)	OPA3 (A130V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1401416	NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)	OPA3 (D124E)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 507946	NM_025136.4(OPA3):c.336G>A (p.Glu112=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +2 more	GLikely benign
Select item 1306574	NM_025136.4(OPA3):c.316G>C (p.Ala106Pro)	OPA3 (A106P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4241	NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	OPA3 (Q105E)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GPathogenic
Select item 503516	NM_025136.4(OPA3):c.296T>C (p.Leu99Pro)	OPA3 (L99P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 509477	NM_025136.4(OPA3):c.273C>T (p.Ile91=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +2 more	GLikely benign
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 +2 more	GUncertain significance
Select item 760690	NM_025136.4(OPA3):c.249G>C (p.Leu83=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +2 more	GLikely benign
Select item 214927	NM_025136.4(OPA3):c.241G>A (p.Ala81Thr)	OPA3 (A81T)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 21709	NM_025136.4(OPA3):c.231T>C (p.Ala77=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 510580	NM_025136.4(OPA3):c.216C>T (p.Asn72=)	OPA3	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy 3 +2 more	GLikely benign
Select item 450618	NM_025136.4(OPA3):c.143-5C>A	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +2 more	GUncertain significance
Select item 1116491	NM_025136.4(OPA3):c.143-7C>T	OPA3	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 3 +2 more	GLikely benign
Select item 452087	NM_025136.4(OPA3):c.143-13T>G	OPA3	Single nucleotide variant (intron variant)	Optic atrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 675500	NM_025136.4(OPA3):c.143-174C>T	OPA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206519	NM_025136.4(OPA3):c.142+81T>C	OPA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1385878	NM_025136.4(OPA3):c.142+4A>T	OPA3	Single nucleotide variant (intron variant)	not provided +2 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 +2 more	GUncertain significance
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 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 430549	NM_025136.4(OPA3):c.30G>T (p.Lys10Asn)	LOC130064709, OPA3 (K10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 138572	NM_025136.4(OPA3):c.-38A>G	LOC130064709, OPA3	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 329687	NM_025136.3(OPA3):c.-75G>A	LOC130064709, OPA3	Single nucleotide variant	3-Methylglutaconic aciduria type 3 +2 more	GBenign
Select item 329688	NM_025136.3(OPA3):c.-86G>A	LOC130064709, OPA3	Single nucleotide variant	3-Methylglutaconic aciduria type 3 +2 more	GBenign
Select item 1201929	NC_000019.10:g.45584961T>C	OPA3	Single nucleotide variant	not provided	GLikely benign
Select item 1271994	NC_000019.10:g.45585093A>T	OPA3	Single nucleotide variant	not provided	GBenign
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 90