"Illumina Laboratory Services, Illumina"[submitter] AND "OPA3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 329586	NM_025136.4(OPA3):c.*5496C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329587	NM_025136.4(OPA3):c.*5357G>A	OPA3	Single nucleotide variant (intron variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 892853	NM_025136.4(OPA3):c.*5277G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329588	NM_025136.4(OPA3):c.*5258A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893665	NM_025136.4(OPA3):c.*5045C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 893666	NM_025136.4(OPA3):c.*5013A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893667	NM_025136.4(OPA3):c.*4975C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329589	NM_025136.4(OPA3):c.*4969C>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329590	NM_025136.4(OPA3):c.*4954C>T	OPA3	Single nucleotide variant (intron variant +1 more)	3-Methylglutaconic aciduria type 3 +2 more	GConflicting classifications of pathogenicity
Select item 329591	NM_025136.4(OPA3):c.*4949G>A	OPA3	Single nucleotide variant (intron variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329592	NM_025136.4(OPA3):c.4919_4921del	OPA3	Deletion (3 prime UTR variant +1 more)	Optic Atrophy, Dominant +1 more	GUncertain significance
Select item 329593	NM_025136.4(OPA3):c.4862_4865del	OPA3	Deletion (3 prime UTR variant +1 more)	Optic Atrophy, Dominant +1 more	GUncertain significance
Select item 329594	NM_025136.4(OPA3):c.*4857A>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 329595	NM_025136.4(OPA3):c.*4853T>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329596	NM_025136.4(OPA3):c.4850_4852del	OPA3	Deletion (intron variant +1 more)	Optic Atrophy, Dominant +2 more	GBenign
Select item 894340	NM_025136.4(OPA3):c.*4846A>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329597	NM_025136.4(OPA3):c.*4794C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 894341	NM_025136.4(OPA3):c.*4773A>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 894342	NM_025136.4(OPA3):c.*4771C>G	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 892895	NM_025136.4(OPA3):c.*4763C>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329599	NM_025136.4(OPA3):c.*4696ATAA[9]	OPA3	Microsatellite (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329598	NM_025136.4(OPA3):c.*4696ATAA[8]	OPA3	Microsatellite (3 prime UTR variant +1 more)	Optic Atrophy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 329600	NM_025136.4(OPA3):c.*4696ATAA[6]	OPA3	Microsatellite (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329601	NM_025136.4(OPA3):c.*4712del	OPA3	Deletion (3 prime UTR variant +1 more)	Optic Atrophy, Dominant +1 more	GUncertain significance
Select item 329602	NM_025136.4(OPA3):c.*4672G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GBenign
Select item 892896	NM_025136.4(OPA3):c.*4618G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329603	NM_025136.4(OPA3):c.*4586G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329604	NM_025136.4(OPA3):c.*4585C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329605	NM_025136.4(OPA3):c.*4521G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329606	NM_025136.4(OPA3):c.*4464G>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329607	NM_025136.4(OPA3):c.*4439C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329608	NM_025136.4(OPA3):c.*4419C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893975	NM_025136.4(OPA3):c.*4372G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329609	NM_025136.4(OPA3):c.*4318T>C	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GBenign
Select item 894373	NM_025136.4(OPA3):c.*4241C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 894374	NM_025136.4(OPA3):c.*4233G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329610	NM_025136.4(OPA3):c.*4132CCCTG[3]	OPA3	Microsatellite (intron variant +1 more)	Optic Atrophy, Dominant +1 more	GBenign
Select item 329611	NM_025136.4(OPA3):c.*4026dup	OPA3	Duplication (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329612	NM_025136.4(OPA3):c.*4026del	OPA3	Deletion (3 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329613	NM_025136.4(OPA3):c.*3972C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GBenign
Select item 329614	NM_025136.4(OPA3):c.*3891C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 329615	NM_025136.4(OPA3):c.*3884G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 329616	NM_025136.4(OPA3):c.*3878A>G	OPA3	Single nucleotide variant (intron variant +1 more)	Optic atrophy 3 +1 more	GBenign
Select item 329617	NM_025136.4(OPA3):c.*3874G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GBenign
Select item 329618	NM_025136.4(OPA3):c.*3845C>T	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 893165	NM_025136.4(OPA3):c.*3804G>A	OPA3	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance

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