ClinVar for Gene (Select 4976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379525	NM_130837.3(OPA1):c.891A>T (p.Glu297Asp)	OPA1 (E118D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377836	NM_130837.3(OPA1):c.677A>C (p.Lys226Thr)	OPA1, OPA1-AS1 (K172T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377522	NM_130837.3(OPA1):c.2661+1G>C	OPA1	Single nucleotide variant (splice donor variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 3377425	NM_130837.3(OPA1):c.1291A>G (p.Thr431Ala)	OPA1 (T252A +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GLikely pathogenic
Select item 3377423	NM_130837.3(OPA1):c.997T>G (p.Tyr333Asp)	OPA1 (Y154D +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GUncertain significance
Select item 3377088	NM_130837.3(OPA1):c.1525C>T (p.Gln509Ter)	OPA1 (Q330* +9 more)	Single nucleotide variant (nonsense)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 3377083	NM_130837.3(OPA1):c.1945_1948del (p.Phe649fs)	OPA1 (F470fs +9 more)	Deletion (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 3377063	NM_130837.3(OPA1):c.1053T>A (p.Asp351Glu)	OPA1 (D172E +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 3376892	NM_130837.3(OPA1):c.1102_1103delinsGA (p.Ile368Glu)	OPA1 (I189E +9 more)	Indel (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GLikely pathogenic
Select item 3376604	NM_130837.3(OPA1):c.2524G>A (p.Val842Ile)	OPA1 (V663I +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 3375802	NM_130837.3(OPA1):c.949A>T (p.Lys317Ter)	OPA1 (K138* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3373588	NM_130837.3(OPA1):c.2059G>A (p.Val687Met)	OPA1 (V508M +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371251	NM_130837.3(OPA1):c.1244G>A (p.Arg415Lys)	OPA1 (R236K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370723	NM_130837.3(OPA1):c.388A>G (p.Ser130Gly)	OPA1 (S130G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370218	NM_130837.3(OPA1):c.1870+5G>C	LOC126806913, OPA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3369685	NM_130837.3(OPA1):c.2033C>A (p.Ser678Tyr)	OPA1 (S499Y +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368611	NM_130837.3(OPA1):c.2984A>G (p.Lys995Arg)	OPA1 (K816R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361298	NM_130837.3(OPA1):c.1306A>G (p.Thr436Ala)	OPA1 (T257A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360806	NM_130837.3(OPA1):c.1697G>A (p.Ser566Asn)	OPA1 (S475N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351762	NM_130837.3(OPA1):c.*2T>C	OPA1	Single nucleotide variant (3 prime UTR variant)	OPA1-related disorder	GLikely benign
Select item 3346062	NM_130837.3(OPA1):c.2945T>A (p.Leu982Ter)	OPA1 (L803* +9 more)	Single nucleotide variant (nonsense)	OPA1-related disorder	GPathogenic
Select item 3345345	NM_130837.3(OPA1):c.2268dup (p.Glu757fs)	OPA1 (E578fs +9 more)	Duplication (frameshift variant)	OPA1-related disorder	GLikely pathogenic
Select item 3343964	NM_130837.3(OPA1):c.2984-1G>A	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3340952	NM_130837.3(OPA1):c.2513A>G (p.Gln838Arg)	OPA1 (Q659R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338791	NM_130837.3(OPA1):c.3011T>C (p.Leu1004Pro)	OPA1 (L1004P +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3338790	NM_130837.3(OPA1):c.2872+1G>C	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3338789	NM_130837.3(OPA1):c.2779-1G>A	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3338788	NM_130837.3(OPA1):c.1377+2T>G	OPA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3338770	NM_130837.3(OPA1):c.1933C>T (p.Arg645Trp)	OPA1 (R466W +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338716	NM_130837.3(OPA1):c.14G>A (p.Arg5His)	OPA1 (R5H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3336925	NM_130837.3(OPA1):c.2773del (p.Ser925fs)	OPA1 (S746fs +9 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3336924	NM_130837.3(OPA1):c.251C>T (p.Pro84Leu)	OPA1 (P84L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3336046	NM_130837.3(OPA1):c.2064T>C (p.Ile688=)	OPA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3302322	NM_130837.3(OPA1):c.1526A>G (p.Gln509Arg)	OPA1 (Q491R +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302321	NM_130837.3(OPA1):c.2676G>A (p.Trp892Ter)	OPA1 (W713* +9 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3252992	NM_130837.3(OPA1):c.2988A>C (p.Lys996Asn)	OPA1 (K817N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252589	NM_130837.3(OPA1):c.1478A>C (p.Asp493Ala)	OPA1 (D314A +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3251969	NM_130837.3(OPA1):c.1149+1G>T	OPA1	Single nucleotide variant (splice donor variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GLikely pathogenic
Select item 3251050	NM_130837.3(OPA1):c.2766T>G (p.Phe922Leu)	OPA1 (F743L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250995	NM_130837.3(OPA1):c.2594C>G (p.Ala865Gly)	OPA1 (A686G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250177	NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)	OPA1 (D314G +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GLikely pathogenic
Select item 3247022	NC_000003.11:g.(?_193356341)_(193360803_?)del	OPA1	Deletion	not provided	GLikely pathogenic
Select item 3247021	NC_000003.11:g.(?_193332492)_(193335990_?)dup	OPA1	Duplication	not provided	GLikely pathogenic
Select item 3247020	NC_000003.11:g.(?_193372631)_(193385089_?)del	OPA1	Deletion	not provided	GPathogenic
Select item 3247019	NC_000003.11:g.(?_193311167)_(193361914_?)del	OPA1	Deletion	not provided	GPathogenic
Select item 3247018	NC_000003.11:g.(?_193207380)_(193409916_?)del	ATP13A4, OPA1	Deletion	not provided	GPathogenic
Select item 3242089	NM_130837.3(OPA1):c.267G>A (p.Trp89Ter)	OPA1 (W89*)	Single nucleotide variant (5 prime UTR variant +1 more)	Abortive cerebellar ataxia	GUncertain significance
Select item 3242088	NM_130837.3(OPA1):c.1476A>C (p.Gln492His)	OPA1 (Q313H +9 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia	GUncertain significance
Select item 3236000	NM_130837.3(OPA1):c.2714dup (p.Asn906fs)	OPA1 (N727fs +9 more)	Duplication (frameshift variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 3234729	NM_130837.3(OPA1):c.2434A>C (p.Lys812Gln)	OPA1 (K633Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233374	NM_130837.3(OPA1):c.1870+1G>C	LOC126806913, OPA1	Single nucleotide variant (splice donor variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3069107	NM_130837.3(OPA1):c.1477+13A>G	OPA1	Single nucleotide variant (intron variant)	not specified	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 3052250	NM_130837.3(OPA1):c.449-28A>G	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 3034142	NM_130837.3(OPA1):c.610+363C>T	OPA1	Single nucleotide variant (intron variant)	OPA1-related disorder	GLikely benign
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 3030430	NM_130837.3(OPA1):c.1608+6G>A	OPA1	Single nucleotide variant (intron variant)	OPA1-related disorder	GLikely benign
Select item 3026526	NM_130837.3(OPA1):c.1754+2T>G	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3018440	NM_130837.3(OPA1):c.152A>G (p.Gln51Arg)	OPA1 (Q51R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3015551	NM_130837.3(OPA1):c.843+5T>C	OPA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3011832	NM_130837.3(OPA1):c.1074T>C (p.Ser358=)	OPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011081	NM_130837.3(OPA1):c.949-12A>T	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009937	NM_130837.3(OPA1):c.389G>A (p.Ser130Asn)	OPA1 (S130N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009848	NM_130837.3(OPA1):c.2613A>G (p.Thr871=)	OPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009455	NM_130837.3(OPA1):c.2030A>G (p.Gln677Arg)	OPA1 (Q622R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009268	NM_130837.3(OPA1):c.32+14C>G	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005815	NM_130837.3(OPA1):c.2538C>T (p.Thr846=)	OPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003059	NM_130837.3(OPA1):c.2274_2275inv (p.Val759Ile)	OPA1 (V581I +9 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 3002722	NM_130837.3(OPA1):c.2872+15G>A	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002617	NM_130837.3(OPA1):c.634A>G (p.Arg212Gly)	OPA1, OPA1-AS1 (R158G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3001117	NM_130837.3(OPA1):c.2572GAG[1] (p.Glu859del)	OPA1 (E768del +9 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3000795	NM_130837.3(OPA1):c.2044A>G (p.Arg682Gly)	OPA1 (R503G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000346	NM_130837.3(OPA1):c.2835C>A (p.Thr945=)	OPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000123	NM_130837.3(OPA1):c.742A>G (p.Arg248Gly)	OPA1, OPA1-AS1 (R194G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999867	NM_130837.3(OPA1):c.843+7A>G	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999521	NM_130837.3(OPA1):c.1755-13T>G	LOC126806913, OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999445	NM_130837.3(OPA1):c.352-5T>C	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999170	NM_130837.3(OPA1):c.1025A>G (p.His342Arg)	OPA1 (H163R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998617	NM_130837.3(OPA1):c.449-13T>C	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998401	NM_130837.3(OPA1):c.2648T>C (p.Val883Ala)	OPA1 (V792A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998020	NM_130837.3(OPA1):c.2779-12T>C	OPA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997689	NM_130837.3(OPA1):c.498A>C (p.Ala166=)	OPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994885	NM_130837.3(OPA1):c.789+15A>G	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994705	NM_130837.3(OPA1):c.2983+15C>T	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994343	NM_130837.3(OPA1):c.2972C>T (p.Ala991Val)	OPA1 (A937V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994117	NM_130837.3(OPA1):c.1306-9C>T	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993089	NM_130837.3(OPA1):c.1937A>G (p.Asn646Ser)	OPA1 (N468S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991207	NM_130837.3(OPA1):c.1404C>T (p.Asp468=)	OPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990839	NM_130837.3(OPA1):c.502G>C (p.Asp168His)	OPA1 (D168H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990326	NM_130837.3(OPA1):c.150T>G (p.Leu50=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2990087	NM_130837.3(OPA1):c.556+12G>T	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989770	NM_130837.3(OPA1):c.557-11A>G	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988418	NM_130837.3(OPA1):c.1961A>G (p.Asn654Ser)	OPA1 (N475S +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2986754	NM_130837.3(OPA1):c.2435A>G (p.Lys812Arg)	OPA1 (K721R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985672	NM_130837.3(OPA1):c.2912A>T (p.Asp971Val)	OPA1 (D793V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984806	NM_130837.3(OPA1):c.2250C>T (p.Asp750=)	OPA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2984513	NM_130837.3(OPA1):c.504C>G (p.Asp168Glu)	OPA1 (D168E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983857	NM_130837.3(OPA1):c.2287A>G (p.Ser763Gly)	OPA1 (S727G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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