"PreventionGenetics, part of Exact Sciences"[submitter] AND "OPA1"[gen - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 344478	NM_130837.3(OPA1):c.-8C>T	OPA1	Single nucleotide variant (5 prime UTR variant)	OPA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 903249	NM_130837.3(OPA1):c.-3G>A	OPA1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant optic atrophy classic form +1 more	GUncertain significance
Select item 195308	NM_130837.3(OPA1):c.33-8T>C	OPA1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214888	NM_130837.3(OPA1):c.88C>T (p.Leu30=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 511815	NM_130837.3(OPA1):c.182A>G (p.Gln61Arg)	OPA1 (Q61R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2635566	NM_130837.3(OPA1):c.219del (p.Lys74fs)	OPA1 (K74fs)	Deletion (5 prime UTR variant +1 more)	OPA1-related disorder	GLikely pathogenic
Select item 344479	NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)	OPA1 (R85C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2122943	NM_130837.3(OPA1):c.336del (p.Tyr113fs)	OPA1 (Y113fs)	Deletion (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 1572301	NM_130837.3(OPA1):c.351+8T>C	OPA1	Single nucleotide variant (intron variant)	OPA1-related disorder +1 more	GLikely benign
Select item 1509112	NM_130837.3(OPA1):c.380C>T (p.Pro127Leu)	OPA1 (P127L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95725	NM_130837.3(OPA1):c.420G>T (p.Val140=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3052250	NM_130837.3(OPA1):c.449-28A>G	OPA1	Single nucleotide variant (intron variant)	OPA1-related disorder	GLikely benign
Select item 2630267	NM_130837.3(OPA1):c.469C>T (p.Pro157Ser)	OPA1 (P157S +1 more)	Single nucleotide variant (missense variant +1 more)	OPA1-related disorder	GUncertain significance
Select item 95727	NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)	OPA1 (S158N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant optic atrophy classic form +2 more	GBenign
Select item 2630956	NM_130837.3(OPA1):c.507dup (p.Asp170Ter)	OPA1 (D170* +1 more)	Duplication (nonsense +2 more)	OPA1-related disorder	GPathogenic
Select item 1554505	NM_130837.3(OPA1):c.603C>T (p.Leu201=)	OPA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 496969	NM_130837.3(OPA1):c.610+360G>A	OPA1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3034142	NM_130837.3(OPA1):c.610+363C>T	OPA1	Single nucleotide variant (intron variant)	OPA1-related disorder	GLikely benign
Select item 95728	NM_130837.3(OPA1):c.611-19T>C	OPA1, OPA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 1671110	NM_130837.3(OPA1):c.611-9A>G	OPA1, OPA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95729	NM_130837.3(OPA1):c.629C>T (p.Ala210Val)	OPA1, OPA1-AS1 (A192V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 96255	NM_130837.3(OPA1):c.679-8C>T	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1318826	NM_130837.3(OPA1):c.696C>T (p.Leu232=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	OPA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2633910	NM_130837.3(OPA1):c.872T>G (p.Leu291Ter)	OPA1 (L112* +9 more)	Single nucleotide variant (nonsense)	OPA1-related disorder	GPathogenic
Select item 381853	NM_130837.3(OPA1):c.921C>T (p.Asp307=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95731	NM_130837.3(OPA1):c.1035+4T>C	OPA1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 1175663	NM_130837.3(OPA1):c.1176T>C (p.His392=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 95708	NM_130837.3(OPA1):c.1236A>G (p.Ala412=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2636197	NM_130837.3(OPA1):c.1285G>C (p.Gly429Arg)	OPA1 (G250R +9 more)	Single nucleotide variant (missense variant)	OPA1-related disorder	GUncertain significance
Select item 994699	NM_130837.3(OPA1):c.1293C>T (p.Thr431=)	OPA1	Single nucleotide variant (synonymous variant)	OPA1-related disorder +2 more	GBenign/Likely benign
Select item 50866	NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	OPA1 (I437M +8 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1665515	NM_130837.3(OPA1):c.1557C>T (p.Phe519=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3030430	NM_130837.3(OPA1):c.1608+6G>A	OPA1	Single nucleotide variant (intron variant)	OPA1-related disorder	GLikely benign
Select item 280006	NM_130837.3(OPA1):c.1681+1G>T	OPA1	Single nucleotide variant (splice donor variant)	OPA1-related disorder +1 more	GPathogenic
Select item 1184586	NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs)	OPA1 (E397fs +9 more)	Deletion (frameshift variant)	OPA1-related disorder	GLikely pathogenic
Select item 95711	NM_130837.3(OPA1):c.1773A>C (p.Ala591=)	LOC126806913, OPA1	Single nucleotide variant (synonymous variant)	Autosomal dominant optic atrophy classic form +3 more	GBenign
Select item 95712	NM_130837.3(OPA1):c.1800C>A (p.Ser600Arg)	LOC126806913, OPA1 (S600R +8 more)	Single nucleotide variant (missense variant)	OPA1-related disorder +1 more	GPathogenic
Select item 167405	NM_130837.3(OPA1):c.1877G>A (p.Arg626His)	OPA1 (R626H +8 more)	Single nucleotide variant (missense variant)	OPA1-related disorder +1 more	GUncertain significance
Select item 994700	NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)	OPA1 (L450P +9 more)	Single nucleotide variant (missense variant)	OPA1-related disorder +1 more	GLikely pathogenic
Select item 95714	NM_130837.3(OPA1):c.1935+16T>G	OPA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 738568	NM_130837.3(OPA1):c.1936-9A>G	OPA1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1624574	NM_130837.3(OPA1):c.1944A>G (p.Leu648=)	OPA1	Single nucleotide variant (synonymous variant)	OPA1-related disorder +1 more	GLikely benign
Select item 2634808	NM_130837.3(OPA1):c.1985G>T (p.Ser662Ile)	OPA1 (S483I +9 more)	Single nucleotide variant (missense variant)	OPA1-related disorder	GUncertain significance
Select item 3031828	NM_130837.3(OPA1):c.1999A>G (p.Thr667Ala)	OPA1 (T488A +9 more)	Single nucleotide variant (missense variant)	OPA1-related disorder	GUncertain significance
Select item 390899	NM_130837.3(OPA1):c.2012+7A>G	OPA1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 3053628	NM_130837.3(OPA1):c.2179-39T>C	OPA1	Single nucleotide variant (intron variant)	OPA1-related disorder	GLikely benign
Select item 3036865	NM_130837.3(OPA1):c.2179-37G>A	OPA1	Single nucleotide variant (intron variant)	OPA1-related disorder	GLikely benign
Select item 2630879	NM_130837.3(OPA1):c.2253_2254del (p.Ile751_Phe752insTer)	OPA1	Microsatellite (frameshift variant +1 more)	OPA1-related disorder	GPathogenic
Select item 95717	NM_130837.3(OPA1):c.2274T>C (p.Ala758=)	OPA1	Single nucleotide variant (synonymous variant)	Autosomal dominant optic atrophy classic form +5 more	GBenign
Select item 973235	NM_130837.3(OPA1):c.2287del (p.Ser763fs)	OPA1 (S584fs +9 more)	Deletion (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +4 more	GPathogenic
Select item 216979	NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)	OPA1 (R711* +9 more)	Single nucleotide variant (nonsense)	OPA1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 95719	NM_130837.3(OPA1):c.2421G>T (p.Leu807=)	OPA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 262316	NM_130837.3(OPA1):c.2441-4dup	OPA1	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 899712	NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)	OPA1 (N826S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 382460	NM_130837.3(OPA1):c.2592T>C (p.Leu864=)	OPA1	Single nucleotide variant (synonymous variant)	Autosomal dominant optic atrophy classic form +2 more	GConflicting classifications of pathogenicity
Select item 2633698	NM_130837.3(OPA1):c.2735G>T (p.Arg912Leu)	OPA1 (R733L +9 more)	Single nucleotide variant (missense variant)	OPA1-related disorder	GUncertain significance
Select item 95722	NM_130837.3(OPA1):c.2778+11C>G	OPA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 871026	NM_130837.3(OPA1):c.2779-9A>G	OPA1	Single nucleotide variant (intron variant)	Autosomal dominant optic atrophy classic form +2 more	GPathogenic/Likely pathogenic
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	Optic nerve dysplasia +8 more	GPathogenic/Likely pathogenic
Select item 138570	NM_130837.3(OPA1):c.2880A>G (p.Arg960=)	OPA1	Single nucleotide variant (synonymous variant)	Autosomal dominant optic atrophy classic form +2 more	GBenign/Likely benign
Select item 1666040	NM_130837.3(OPA1):c.3048A>G (p.Ter1016=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 61