ClinVar for PubMed (Select 11440988) - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2859244	NM_130837.3(OPA1):c.2685_2686del (p.Val895_Tyr896insTer)	OPA1	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2851066	NM_130837.3(OPA1):c.1067del (p.Lys356fs)	OPA1 (K302fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2842654	NM_130837.3(OPA1):c.2935A>T (p.Lys979Ter)	OPA1 (K906* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2831913	NM_130837.3(OPA1):c.1015dup (p.Thr339fs)	OPA1 (T161fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2820504	NM_130837.3(OPA1):c.1178dup (p.Ala394fs)	OPA1 (A215fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2818174	NM_130837.3(OPA1):c.1909_1912del (p.Tyr637fs)	OPA1 (Y582fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2817639	NM_130837.3(OPA1):c.2538del (p.Lys847fs)	OPA1 (K668fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2815352	NM_130837.3(OPA1):c.198_201del (p.Asn67fs)	OPA1 (N67fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2808987	NM_130837.3(OPA1):c.1551del (p.Ile518fs)	OPA1 (I427fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2757045	NM_130837.3(OPA1):c.2861del (p.Thr954fs)	OPA1 (T775fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2734614	NM_130837.3(OPA1):c.1183del (p.Leu395fs)	OPA1 (L322fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2734612	NM_130837.3(OPA1):c.949-2A>T	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 2426185	NC_000003.11:g.(?_193382649)_(193384198_?)del	OPA1	Deletion	not provided	GPathogenic
Select item 2426183	NC_000003.11:g.(?_193332492)_(193336745_?)del	OPA1	Deletion	not provided	GPathogenic
Select item 2203483	NM_130837.3(OPA1):c.1567A>G (p.Lys523Glu)	OPA1 (K450E +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2203482	NM_130837.3(OPA1):c.1469_1470del (p.Cys490fs)	OPA1 (C454fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2203481	NM_130837.3(OPA1):c.1444C>T (p.Gln482Ter)	OPA1 (Q446* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2203480	NM_130837.3(OPA1):c.1377+1G>A	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2203479	NM_130837.3(OPA1):c.1305+1G>T	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2203477	NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)	OPA1 (R276* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2203475	NM_130837.3(OPA1):c.1035+1G>T	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2203474	NM_130837.3(OPA1):c.949-1G>A	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2203473	NM_130837.3(OPA1):c.796_799del (p.Asp266fs)	OPA1 (D193fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2122943	NM_130837.3(OPA1):c.336del (p.Tyr113fs)	OPA1 (Y113fs)	Deletion (5 prime UTR variant +1 more)	OPA1-related disorder +1 more	GPathogenic
Select item 2105072	NM_130837.3(OPA1):c.1608+1G>A	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2098222	NM_130837.3(OPA1):c.320C>A (p.Ser107Ter)	OPA1 (S107*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2065148	NM_130837.3(OPA1):c.1754+1dup	OPA1	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 2061269	NM_130837.3(OPA1):c.2478G>A (p.Trp826Ter)	OPA1 (W647* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2054732	NM_130837.3(OPA1):c.1305+1G>C	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2035615	NM_130837.3(OPA1):c.1461_1465dup (p.Leu489fs)	OPA1 (L416fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2032629	NM_130837.3(OPA1):c.1031_1035del (p.Pro344fs)	OPA1 (P289fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 2029327	NM_130837.3(OPA1):c.2179-1G>C	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2022169	NM_130837.3(OPA1):c.2035_2036del (p.Leu679fs)	OPA1 (L500fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2020641	NM_130837.3(OPA1):c.7C>T (p.Arg3Ter)	OPA1 (R3*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2016249	NM_130837.3(OPA1):c.2572G>T (p.Glu858Ter)	OPA1 (E803* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2005665	NM_130837.3(OPA1):c.1089del (p.Ile363fs)	OPA1 (I184fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1998625	NM_130837.3(OPA1):c.1406_1407del (p.Thr469fs)	OPA1 (T432fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1997626	NM_130837.3(OPA1):c.2664_2665delinsAT (p.Lys889Ter)	OPA1 (K835* +9 more)	Indel (nonsense)	not provided	GPathogenic
Select item 1996922	NM_130837.3(OPA1):c.232del (p.Ile78fs)	OPA1 (I78fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1993218	NM_130837.3(OPA1):c.178del (p.Gln60fs)	OPA1 (Q60fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1916249	NM_130837.3(OPA1):c.992_993del (p.Leu330_Ser331insTer)	OPA1	Microsatellite (nonsense)	not provided	GPathogenic
Select item 1465885	NM_130837.3(OPA1):c.2179-1G>A	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1460360	NM_130837.3(OPA1):c.2213del (p.Arg738fs)	OPA1 (R702fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1459789	NC_000003.11:g.(?_193311167)_(193311218_?)del	OPA1	Deletion	not provided	GPathogenic
Select item 1458650	NC_000003.11:g.(?_193336638)_(193344011_?)del	OPA1	Deletion	not provided	GPathogenic
Select item 1457942	NM_130837.3(OPA1):c.1443dup (p.Gln482fs)	OPA1 (Q427fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1456318	NM_130837.3(OPA1):c.1612C>T (p.Gln538Ter)	OPA1 (Q360* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1452976	NM_130837.3(OPA1):c.1382_1383del (p.Val461fs)	OPA1 (V283fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1451913	NM_130837.3(OPA1):c.1979_1980del (p.Val660fs)	OPA1 (V482fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1451721	NM_130837.3(OPA1):c.2779-2A>T	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1448649	NM_130837.3(OPA1):c.401G>A (p.Trp134Ter)	OPA1 (W10* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1447795	NM_130837.3(OPA1):c.1857del (p.Asp620fs)	LOC126806913, OPA1 (D442fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1447573	NM_130837.3(OPA1):c.937A>T (p.Arg313Ter)	OPA1 (R135* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1424362	NM_130837.3(OPA1):c.2155C>T (p.Gln719Ter)	OPA1 (Q646* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1402595	NM_130837.3(OPA1):c.1214_1215dup (p.Thr406fs)	OPA1 (T227fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1387731	NM_130837.3(OPA1):c.983A>T (p.Asp328Val)	OPA1 (D292V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383594	NM_130837.3(OPA1):c.1581del (p.Glu528fs)	OPA1 (E349fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1074939	NC_000003.12:g.193645729del	OPA1	Deletion	not provided	GPathogenic
Select item 1074919	NM_130837.3(OPA1):c.2197del (p.Gln733fs)	OPA1 (Q554fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1074910	NM_130837.3(OPA1):c.832del (p.Leu278fs)	OPA1 (L100fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1067049	NM_130837.3(OPA1):c.2013-1G>A	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1012714	NM_130837.3(OPA1):c.2057_2058del (p.His686fs)	OPA1 (H507fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 976012	NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)	OPA1 (L122* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 973235	NM_130837.3(OPA1):c.2287del (p.Ser763fs)	OPA1 (S584fs +9 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 900791	NM_130837.3(OPA1):c.556+2T>G	OPA1	Single nucleotide variant (splice donor variant +1 more)	Autosomal dominant optic atrophy classic form +1 more	GConflicting classifications of pathogenicity
Select item 871025	NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter)	OPA1 (W597* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 871021	NM_130837.3(OPA1):c.1157dup (p.Ser387fs)	OPA1 (S209fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 805096	NM_130837.3(OPA1):c.1377_1377+4del	OPA1	Deletion (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 805095	NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)	OPA1 (R38*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 593455	NM_130837.3(OPA1):c.2178+1G>A	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 500848	NM_130837.3(OPA1):c.1389dup (p.Gly464fs)	OPA1 (G285fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 500500	NM_130837.3(OPA1):c.1936-2A>G	OPA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 447904	NM_130837.3(OPA1):c.868C>T (p.Arg290Ter)	OPA1 (R235* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 431941	NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter)	OPA1 (R733* +9 more)	Single nucleotide variant (nonsense)	Optic atrophy +1 more	GPathogenic
Select item 431940	NM_130837.3(OPA1):c.2012+1G>T	OPA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 419963	NM_130837.3(OPA1):c.959_962del (p.Ile320fs)	OPA1 (I283fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 285555	NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs)	OPA1 (K817fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 216979	NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)	OPA1 (R711* +9 more)	Single nucleotide variant (nonsense)	Autosomal dominant optic atrophy classic form +2 more	GPathogenic/Likely pathogenic
Select item 214899	NM_130837.3(OPA1):c.852T>G (p.Tyr284Ter)	OPA1 (Y229* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 198219	NM_130837.3(OPA1):c.800_801del (p.Lys267fs)	OPA1 (K194fs +8 more)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 195831	NM_130837.3(OPA1):c.2661+1G>T	OPA1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 167399	NM_130837.3(OPA1):c.533T>A (p.Leu178Ter)	OPA1 (L178* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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)	Autosomal dominant optic atrophy classic form +2 more	GBenign
Select item 95725	NM_130837.3(OPA1):c.420G>T (p.Val140=)	OPA1	Single nucleotide variant (synonymous variant)	Autosomal dominant optic atrophy classic form +2 more	GBenign
Select item 95713	NM_130837.3(OPA1):c.1834C>T (p.Arg612Ter)	LOC126806913, OPA1 (R557* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 5085	NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)	OPA1 (R366* +8 more)	Single nucleotide variant (nonsense)	OPA1-related optic atrophy with or without extraocular features +2 more	GPathogenic
Select item 5084	NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	OPA1 (R345Q +8 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	OPA1-related disorder +8 more	GPathogenic/Likely pathogenic

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Items: 96