Related gene-specific medical variations for Gene (Select 4976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370218	NM_130837.3(OPA1):c.1870+5G>C	LOC126806913, OPA1	Single nucleotide variant (intron 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 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 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 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 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 2999521	NM_130837.3(OPA1):c.1755-13T>G	LOC126806913, OPA1	Single nucleotide variant (intron variant)	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 2968807	NM_130837.3(OPA1):c.789+17G>A	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964166	NM_130837.3(OPA1):c.615T>C (p.Ser205=)	OPA1, OPA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2898256	NM_130837.3(OPA1):c.747C>T (p.Ala249=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872548	NM_130837.3(OPA1):c.640A>G (p.Thr214Ala)	OPA1, OPA1-AS1 (T36A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2857715	NM_130837.3(OPA1):c.755A>C (p.Gln252Pro)	OPA1, OPA1-AS1 (Q234P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2848918	NM_130837.3(OPA1):c.679-19C>A	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842341	NM_130837.3(OPA1):c.741C>T (p.Arg247=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800051	NM_130837.3(OPA1):c.1778A>G (p.Gln593Arg)	LOC126806913, OPA1 (Q414R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793590	NM_130837.3(OPA1):c.772G>C (p.Ala258Pro)	OPA1, OPA1-AS1 (A204P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2791031	NM_130837.3(OPA1):c.1870+3A>G	LOC126806913, OPA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2776214	NM_130837.3(OPA1):c.702C>G (p.Leu234=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2775430	NM_130837.3(OPA1):c.1309dup (p.Ile437fs)	OPA1 (I383fs +9 more)	Duplication (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GLikely pathogenic
Select item 2766694	NM_130837.3(OPA1):c.778C>T (p.Gln260Ter)	OPA1, OPA1-AS1 (Q224* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2744014	NM_130837.3(OPA1):c.706C>T (p.Gln236Ter)	OPA1, OPA1-AS1 (Q182* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2734610	NM_130837.3(OPA1):c.768C>G (p.Ser256Arg)	OPA1, OPA1-AS1 (S238R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2703352	NM_130837.3(OPA1):c.679G>T (p.Gly227Cys)	OPA1, OPA1-AS1 (G173C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690661	NM_130837.3(OPA1):c.533del (p.Leu178fs)	OPA1 (L178fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2684284	NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)	OPA1 (W2*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2684283	NM_130837.3(OPA1):c.556+3A>G	OPA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684282	NM_130837.3(OPA1):c.448+1G>A	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2684280	NM_130837.3(OPA1):c.2787C>A (p.Cys929Ter)	OPA1 (C750* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2684279	NM_130837.3(OPA1):c.2779-2A>G	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2684278	NM_130837.3(OPA1):c.2661+2T>C	OPA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2654360	NM_130837.3(OPA1):c.743G>A (p.Arg248Lys)	OPA1, OPA1-AS1 (R194K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580214	NM_130837.3(OPA1):c.364T>C (p.Trp122Arg)	OPA1 (W122R)	Single nucleotide variant (missense variant +1 more)	OPA1-related optic atrophy with or without extraocular features	GUncertain significance
Select item 2434502	NM_130837.3(OPA1):c.2816A>G (p.Gln939Arg)	OPA1 (Q760R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416689	NM_130837.3(OPA1):c.718C>G (p.Gln240Glu)	OPA1, OPA1-AS1 (Q186E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2415531	NM_130837.3(OPA1):c.723G>A (p.Glu241=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2203485	NM_130837.3(OPA1):c.1835G>A (p.Arg612Gln)	LOC126806913, OPA1 (R539Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203484	NM_130837.3(OPA1):c.1805C>A (p.Ala602Glu)	LOC126806913, OPA1 (A584E +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203472	NM_130837.3(OPA1):c.706CAA[2] (p.Gln238del)	OPA1, OPA1-AS1 (Q184del +4 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2174537	NM_130837.3(OPA1):c.647G>A (p.Arg216His)	OPA1, OPA1-AS1 (R74H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2171865	NM_130837.3(OPA1):c.764C>T (p.Thr255Met)	OPA1, OPA1-AS1 (T237M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2133241	NM_130837.3(OPA1):c.764C>A (p.Thr255Lys)	OPA1, OPA1-AS1 (T219K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2131674	NM_130837.3(OPA1):c.1805C>T (p.Ala602Val)	LOC126806913, OPA1 (A424V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116137	NM_130837.3(OPA1):c.682C>G (p.Leu228Val)	OPA1, OPA1-AS1 (L192V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2107095	NM_130837.3(OPA1):c.680G>A (p.Gly227Asp)	OPA1, OPA1-AS1 (G191D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2036167	NM_130837.3(OPA1):c.1870+20G>C	LOC126806913, OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031706	NM_130837.3(OPA1):c.1806_1807insATGCA (p.Val603fs)	LOC126806913, OPA1 (V424fs +9 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2024768	NM_130837.3(OPA1):c.718C>T (p.Gln240Ter)	OPA1, OPA1-AS1 (Q204* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2023409	NM_130837.3(OPA1):c.611G>C (p.Gly204Ala)	OPA1, OPA1-AS1 (G150A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2018103	NM_130837.3(OPA1):c.789+13T>A	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017929	NM_130837.3(OPA1):c.718C>A (p.Gln240Lys)	OPA1, OPA1-AS1 (Q186K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998905	NM_130837.3(OPA1):c.789+6G>T	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991906	NM_130837.3(OPA1):c.1762A>G (p.Met588Val)	LOC126806913, OPA1 (M533V +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1991885	NM_130837.3(OPA1):c.627G>A (p.Thr209=)	OPA1, OPA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1986678	NM_130837.3(OPA1):c.707A>G (p.Gln236Arg)	OPA1, OPA1-AS1 (Q236R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1975500	NM_130837.3(OPA1):c.1779A>G (p.Gln593=)	LOC126806913, OPA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1971263	NM_130837.3(OPA1):c.611-15A>T	OPA1, OPA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1958169	NM_130837.3(OPA1):c.727G>A (p.Glu243Lys)	OPA1, OPA1-AS1 (E207K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1946989	NM_130837.3(OPA1):c.789+10G>A	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945408	NM_130837.3(OPA1):c.678+15_678+16del	OPA1, OPA1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1944503	NM_130837.3(OPA1):c.679-7G>C	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943860	NM_130837.3(OPA1):c.696C>G (p.Leu232=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934587	NM_130837.3(OPA1):c.632T>C (p.Phe211Ser)	OPA1, OPA1-AS1 (F193S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1934038	NM_130837.3(OPA1):c.781A>G (p.Lys261Glu)	OPA1, OPA1-AS1 (K243E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1933086	NM_130837.3(OPA1):c.1759A>G (p.Ser587Gly)	LOC126806913, OPA1 (S409G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929781	NM_130837.3(OPA1):c.789+14del	OPA1, OPA1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1927071	NM_130837.3(OPA1):c.636A>C (p.Arg212Ser)	OPA1, OPA1-AS1 (R194S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1917766	NM_130837.3(OPA1):c.716T>C (p.Ile239Thr)	OPA1, OPA1-AS1 (I203T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1904790	NM_130837.3(OPA1):c.1870+9G>A	LOC126806913, OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901659	NM_130837.3(OPA1):c.1870+11T>A	LOC126806913, OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895770	NM_130837.3(OPA1):c.611-19T>G	OPA1, OPA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1807044	NM_130837.3(OPA1):c.1849C>T (p.Gln617Ter)	LOC126806913, OPA1 (Q438* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1807043	NM_130837.3(OPA1):c.2631del (p.Glu877fs)	OPA1 (E698fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1807042	NM_130837.3(OPA1):c.2218A>C (p.Met740Leu)	OPA1 (M561L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807041	NM_130837.3(OPA1):c.2140C>T (p.Gln714Ter)	OPA1 (Q535* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1800709	NM_130837.3(OPA1):c.739C>T (p.Arg247Cys)	OPA1, OPA1-AS1 (R193C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723636	NM_130837.3(OPA1):c.1832T>G (p.Val611Gly)	LOC126806913, OPA1 (V432G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718369	NM_130837.3(OPA1):c.1762A>C (p.Met588Leu)	LOC126806913, OPA1 (M409L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709100	NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)	LOC126806913, OPA1 (Q439* +9 more)	Single nucleotide variant (nonsense)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1704746	NM_130837.3(OPA1):c.722A>G (p.Glu241Gly)	OPA1-AS1, OPA1 (E187G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701466	NM_130837.3(OPA1):c.629_631delinsGC (p.Ala210fs)	OPA1, OPA1-AS1 (A156fs +5 more)	Indel (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1695559	NM_130837.3(OPA1):c.661G>A (p.Asp221Asn)	OPA1, OPA1-AS1 (D167N +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1671110	NM_130837.3(OPA1):c.611-9A>G	OPA1, OPA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1649256	NM_130837.3(OPA1):c.1870+11T>C	LOC126806913, OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644515	NM_130837.3(OPA1):c.1755-18G>T	LOC126806913, OPA1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1644269	NM_130837.3(OPA1):c.726T>C (p.His242=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1633754	NM_130837.3(OPA1):c.679-1G>C	OPA1, OPA1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1610287	NM_130837.3(OPA1):c.678+11A>G	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602031	NM_130837.3(OPA1):c.1806A>G (p.Ala602=)	LOC126806913, OPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581204	NM_130837.3(OPA1):c.785G>T (p.Arg262Leu)	OPA1, OPA1-AS1 (R208L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1575534	NM_130837.3(OPA1):c.738G>A (p.Ala246=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1573692	NM_130837.3(OPA1):c.765G>A (p.Thr255=)	OPA1, OPA1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1573625	NM_130837.3(OPA1):c.630G>A (p.Ala210=)	OPA1, OPA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1571562	NM_130837.3(OPA1):c.1755-15del	LOC126806913, OPA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1558064	NM_130837.3(OPA1):c.679-7G>A	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537406	NM_130837.3(OPA1):c.678+11A>C	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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