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Mitochondrial Diseases (D028361)
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Optic Atrophies, Hereditary (D015418)
..Starting node
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Optic Atrophy, Autosomal Dominant (D029241)

       Child Nodes:



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..expandOptic atrophy 1 and deafness (C537124)  LSDB  L: 00657;
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandOPTIC ATROPHY 11 (OMIM:617302)
..expandOPTIC ATROPHY 2 (OMIM:311050)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOPTIC ATROPHY 9 (OMIM:616289)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9150
Name:Optic Atrophy, Autosomal Dominant
Definition:Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Alternative IDs:OMIM:165500
ParentIDs:MESH:D015418|MESH:D028361
TreeNumbers:C10.292.700.225.500.100 |C10.574.500.662.100 |C11.270.564.100 |C11.640.451.451.100 |C16.320.290.564.100 |C16.320.400.630.100 |C18.452.660.665
Synonyms:Atrophies, Juvenile Optic |Atrophies, Kjer-Type Optic |Atrophy, Juvenile Optic |Atrophy, Kjer's Optic |Atrophy, Kjer-Type Optic |Autosomal Dominant Optic Atrophy |Autosomal Dominant Optic Atrophy Kjer Type |Dominant Optic Atrophies |Dominant Optic Atrophy |Juveni
Slim Mappings:Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D029241
MeSH: D029241
OMIM: 165500;
MSeqDR LSDB: 00073;  
Genes: OPA1; UROS;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003587Insidious onset
3 HP:0000650Abnormal amplitude of pattern reversal visual evoked potentials
4 HP:0001251AtaxiaHP:0040284
5 HP:0000603Central scotoma
6 HP:0000576Centrocecal scotoma
7 HP:0000666Horizontal nystagmusHP:0040284
8 HP:0003829Incomplete penetrance
9 HP:0000648Optic atrophy
10 HP:0000590Progressive external ophthalmoplegiaHP:0040284
11 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
HP:0040284
12 HP:0000642Red-green dyschromatopsia
13 HP:0007663Reduced visual acuity
14 HP:0000486StrabismusHP:0040284
15 HP:0000552Tritanomaly
16 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_015560.2(OPA1):c.-182C>A4976OPA1Uncertain significance532165115RCV001150415; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933109851933109853:g.193310985C>A-
NM_015560.2(OPA1):c.-172T>A4976OPA1Benign146295726RCV001150416; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933109951933109953:g.193310995T>A-
NM_130837.3(OPA1):c.-144T>C4976OPA1Uncertain significance1057509207RCV001150417; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933110231933110233:g.193311023T>C-
NM_130837.3(OPA1):c.-102G>A4976OPA1Uncertain significance886058255RCV000328132; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193311065193311065NC_000003.11:g.193311065G>AClinGen:CA10615439CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.-10C>T4976OPA1Conflicting interpretations of pathogenicity775614028RCV000432407|RCV001150418; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933111571933111573:g.193311157C>TClinGen:CA2758884CN169374 not specified;
NM_130837.3(OPA1):c.-8C>T4976OPA1Uncertain significance371988066RCV000387335; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193311159193311159NC_000003.11:g.193311159C>TClinGen:CA2758886CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.-3G>A4976OPA1Uncertain significance964787052RCV001150419; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933111641933111643:g.193311164G>A-
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser)4976OPA1Uncertain significance794726939RCV000173452|RCV000723425; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933111881933111883:g.193311188G>TClinGen:CA274916,UniProtKB:O60313#VAR_060825C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.32+14C>T4976OPA1Benign/Likely benign201927764RCV000612148|RCV001150420|RCV002063278; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933112121933112123:g.193311212C>TClinGen:CA2758889CN169374 not specified;
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)4976OPA1Benign75414918RCV000081767|RCV000295836|RCV000710167|RCV001787895|RCV001787894|RCV001787893; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:12525031933325221933325223:g.193332522C>AClinGen:CA285728CN169374 not specified;
NM_130837.3(OPA1):c.70dup (p.Ile24fs)4976OPA1Pathogenic-1RCV002290233; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193332547193332548193332547-
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)4976OPA1Conflicting interpretations of pathogenicity201520438RCV000332084|RCV000488273; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C36619003193332549193332549NC_000003.11:g.193332549A>GClinGen:CA321129CN517202 not provided;
NM_130837.3(OPA1):c.88C>T (p.Leu30=)4976OPA1Conflicting interpretations of pathogenicity185976555RCV000198587|RCV000998191|RCV001144334; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933325671933325673:g.193332567C>TClinGen:CA323113CN169374 not specified;
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)4976OPA1Likely pathogenic-1RCV002290155; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193332593193332594193332593-
NM_130837.3(OPA1):c.164dup (p.Leu55fs)4976OPA1Likely pathogenic1728771454RCV001291943; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193332641193332642193332641-
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)4976OPA1Benign/Likely benign151103940RCV000731858|RCV000903690|RCV000987376; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193332718193332718NC_000003.11:g.193332718A>G-
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)4976OPA1Conflicting interpretations of pathogenicity372435892RCV000372840|RCV000914591; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C36619003193332732193332732NC_000003.11:g.193332732C>TClinGen:CA2758961CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.254G>A (p.Arg85His)4976OPA1Conflicting interpretations of pathogenicity35630194RCV000081761|RCV000278316|RCV001509225|RCV002513835; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MeSH:D030342,MedGen:C095012331933327331933327333:g.193332733G>AClinGen:CA148772CN169374 not specified;
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys)4976OPA1Conflicting interpretations of pathogenicity371943668RCV001987873|RCV003389505; NMedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193332780193332780193332780-
NM_130837.3(OPA1):c.321G>A (p.Ser107=)4976OPA1Benign117888848RCV000081765|RCV000337795|RCV000712466|RCV001787891|RCV001787892|RCV001787890; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:12525031933328001933328003:g.193332800G>AClinGen:CA148777CN169374 not specified;
NM_130837.3(OPA1):c.339C>T (p.Tyr113=)4976OPA1Likely benign779836454RCV000394495|RCV000911638; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193332818193332818NC_000003.11:g.193332818C>TClinGen:CA2758983CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.357del (p.Phe119fs)4976OPA1Pathogenic1728905695RCV002052147; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193333465193333465193333464-
NM_130837.3(OPA1):c.420G>T (p.Val140=)4976OPA1Benign35801538RCV000081766|RCV000284097|RCV000676691; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933335311933335313:g.193333531G>TClinGen:CA285723CN517202 not provided;
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)4976OPA1Uncertain significance-1RCV002289380|RCV003101668; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193333548193333548193333548-
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)4976OPA1Benign7624750RCV000081768|RCV000676692|RCV000987377; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933349911933349913:g.193334991G>AClinGen:CA285733,UniProtKB:O60313#VAR_022924C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile)4976OPA1Conflicting interpretations of pathogenicity150279202RCV000197961|RCV000400476; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933350481933350483:g.193335048G>TClinGen:CA322427CN169374 not specified;
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu)4976OPA1Likely benign769335936RCV000304297; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193335062193335062NC_000003.11:g.193335062T>CClinGen:CA2759041CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.556+2T>G4976OPA1Conflicting interpretations of pathogenicity762390227RCV001146232|RCV002557132; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933350761933350763:g.193335076T>G-
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)4976OPA1Conflicting interpretations of pathogenicity772090345RCV001146233|RCV001566180; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933366641933366643:g.193336664C>T-
NM_130837.3(OPA1):c.629C>T (p.Ala210Val)4976OPA1Benign34307082RCV000081770|RCV000363524|RCV000676693; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933366761933366763:g.193336676C>TClinGen:CA285739,UniProtKB:O60313#VAR_022926CN517202 not provided;
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)4976OPA1Conflicting interpretations of pathogenicity200243596RCV000390873|RCV000489535|RCV000765718; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239; MONDO:MONDO:0011693,MedGen:C1847730,OMIM:606657; MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250; MONDO:MONDO:00143193336700193336700NC_000003.11:g.193336700C>TClinGen:CA2759090CN169374 not specified;
NM_130837.3(OPA1):c.678+13G>C4976OPA1Benign561115644RCV001146234|RCV002070772; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933367381933367383:g.193336738G>C-
GRCh37/hg19 3q29(chr3:193343827-194599635)x14976OPA1Likely pathogenic-1RCV003329547; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193343827194599635-
NM_130837.3(OPA1):c.740G>A (p.Arg247His)4976OPA1Uncertain significance138350727RCV000055988|RCV000657875; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933439421933439423:g.193343942G>AClinGen:CA345078C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.790-4T>A4976OPA1Conflicting interpretations of pathogenicity374509936RCV000153618|RCV001149026; NMedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933493971933493973:g.193349397T>AClinGen:CA234459CN169374 not specified;
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)4976OPA1Pathogenic794727804RCV000623100|RCV000517030|RCV002288784|RCV003389462; NMeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0019353,MedGen:C0271093, Orphanet:82731933494101933494113:g.193349410_193349411delClinGen:CA275351C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys)4976OPA1Uncertain significance760177302RCV001149027; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933532141933532143:g.193353214A>G-
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)4976OPA1Likely pathogenic-1RCV002289336; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193353243193353243193353243-
NM_130837.3(OPA1):c.885C>G (p.Asn295Lys)4976OPA1Likely pathogenic750185470RCV001647169; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193353248193353248193353248-
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter)4976OPA1not provided863225274RCV000201902; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933532561933532563:g.193353256T>AClinGen:CA347681C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)4976OPA1Pathogenic1488795500RCV001253178|RCV002570526; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933532651933532653:g.193353265T>G-
NM_130837.3(OPA1):c.949-11A>C4976OPA1Benign/Likely benign376681712RCV001149028|RCV001703481; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933549731933549733:g.193354973A>CClinGen:CA2759226CN169374 not specified;
NM_130837.3(OPA1):c.985G>A (p.Val329Ile)4976OPA1Uncertain significance1347426414RCV001149029|RCV002557204; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933550201933550203:g.193355020G>A-
NM_130837.3(OPA1):c.990C>T (p.Leu330=)4976OPA1Conflicting interpretations of pathogenicity201242590RCV000310228|RCV002057873; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193355025193355025NC_000003.11:g.193355025C>TClinGen:CA2759230CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)4976OPA1Uncertain significance141326740RCV000712469|RCV001332089; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355051193355051NC_000003.11:g.193355051C>T-
NM_130837.3(OPA1):c.1017G>A (p.Thr339=)4976OPA1Likely benign758922394RCV000364856|RCV002057874; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193355052193355052NC_000003.11:g.193355052G>AClinGen:CA2759234CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)4976OPA1Pathogenic/Likely pathogenic121908375RCV000005389|RCV000790668|RCV001336297; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:12525031933550691933550693:g.193355069G>AClinGen:CA223219,UniProtKB:O60313#VAR_011483,OMIM:605290.0005C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1035+4T>C4976OPA1Benign166850RCV000081773|RCV000576690|RCV000676694|RCV001787898|RCV001787896|RCV001787897; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:123931933550741933550743:g.193355074T>CClinGen:CA285744C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1035+5G>A4976OPA1Pathogenic/Likely pathogenic754576717RCV000498640|RCV000678587; NMedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933550751933550753:g.193355075G>AClinGen:CA2759236C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1036-9T>C4976OPA1Uncertain significance531187028RCV000330155; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355732193355732NC_000003.11:g.193355732T>CClinGen:CA2759251CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)4976OPA1Likely pathogenic1553876590RCV000519528|RCV000709838; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933557411933557413:g.193355741G>CClinGen:CA355788115CN517202 not provided;
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)4976OPA1Pathogenic/Likely pathogenic1577228080RCV000987378|RCV001374996; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C153592631933557561933557563:g.193355756G>C-
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu)4976OPA1Pathogenic28939082RCV000005385; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933557691933557693:g.193355769G>AClinGen:CA253410,UniProtKB:O60313#VAR_011484,OMIM:605290.0001C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn)4976OPA1Uncertain significance-1RCV002289335; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355778193355778193355778-
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)4976OPA1Uncertain significance-1RCV002466884; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355816193355816NC_000003.11:g.193355816A>G-
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)4976OPA1Pathogenic398124303RCV000081775|RCV000180653; NMedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933558531933558533:g.193355853A>GClinGen:CA285745C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1149+3A>T4976OPA1Uncertain significance1733207545RCV001255704; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933558571933558573:g.193355857A>T-
NM_130837.3(OPA1):c.1150-1G>A4976OPA1Pathogenic879255510RCV000005386|RCV000518060; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193360553193360553NC_000003.11:g.193360553G>AClinGen:CA10575489,OMIM:605290.0002C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1230+1G>T4976OPA1not provided80356528RCV000020717; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933606351933606353:g.193360635G>TClinGen:CA342176C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1230+5G>A4976OPA1Likely pathogenic1057519244RCV000415932|RCV002244863; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933606391933606393:g.193360639G>AClinGen:CA16043894CN517202 not provided;
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs)4976OPA1not provided863225275RCV000201881; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933607641933607653:g.193360764_193360765insTTClinGen:CA347674C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)4976OPA1Benign/Likely benign150807064RCV000081745|RCV000370837|RCV000676696; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933607691933607693:g.193360769A>GClinGen:CA285691CN517202 not provided;
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)4976OPA1Pathogenic104893753RCV000005390|RCV000790742|RCV003225922; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0800181,MedGen:CN32245931933607941933607943:g.193360794C>TClinGen:CA223199,OMIM:605290.0006C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp)4976OPA1Conflicting interpretations of pathogenicity146003075RCV001150534|RCV001882465; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933608191933608193:g.193360819G>A-
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly)4976OPA1Uncertain significance1313421147RCV000987379; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933608211933608213:g.193360821T>G-
NM_130837.3(OPA1):c.1302T>G (p.Pro434=)4976OPA1Benign/Likely benign139861334RCV000200427|RCV000277400|RCV000923286; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C36619003193360835193360835NC_000003.11:g.193360835T>GClinGen:CA324994CN169374 not specified;
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)4976OPA1Conflicting interpretations of pathogenicity143319805RCV000043607|RCV000081747|RCV000210748|RCV000677258|RCV001267306|RCV001249638; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|Human Phenotype Ontology:HP:0000609,Human Phenotype Ontology:HP:0007273,MedGen:C0338502|MeSH:D030342,MedGen:C09531933611671933611673:g.193361167A>GClinGen:CA143824,UniProtKB:O60313#VAR_060837,OMIM:605290.0018C0221061 210000 Abortive cerebellar ataxia;
NM_130837.3(OPA1):c.1342A>C (p.Arg448=)4976OPA1Benign149752576RCV000081748|RCV000373000|RCV000971269; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933611981933611983:g.193361198A>CClinGen:CA285696CN169374 not specified;
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)4976OPA1Likely pathogenic-1RCV003447731; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361204193361204-
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp)4976OPA1not provided863225276RCV000201900; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933612231933612233:g.193361223G>AClinGen:CA347676C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1377+1G>T4976OPA1Pathogenic2109043749RCV002226810; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361234193361234193361234-
NM_130837.3(OPA1):c.1377+6T>A4976OPA1Uncertain significance-1RCV002468880; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361239193361239NC_000003.11:g.193361239T>A-
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)4976OPA1Likely pathogenic1577243012RCV000987380; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933613931933613933:g.193361393A>T-
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del)4976OPA1Pathogenic879255511RCV000005391; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933613971933613993:g.193361397_193361399delClinGen:CA10575491,OMIM:605290.0007C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg)4976OPA1Pathogenic863225277RCV000201926|RCV000274390; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933614141933614143:g.193361414A>GClinGen:CA347686C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)4976OPA1Pathogenic80356529RCV000005396|RCV000081749|RCV000508953|RCV003137493; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933617851933617853:g.193361785G>AClinGen:CA275012,UniProtKB:O60313#VAR_015741,OMIM:605290.0011C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)4976OPA1Pathogenic1577244261RCV000987381|RCV002549677; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933617971933617973:g.193361797C>G-
NM_130837.3(OPA1):c.1519del (p.Val507fs)4976OPA1Pathogenic879255512RCV000005392; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361804193361804NC_000003.11:g.193361805delClinGen:CA10575492,OMIM:605290.0008C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile)4976OPA1Conflicting interpretations of pathogenicity779722414RCV001150535|RCV002559450; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933618771933618773:g.193361877G>A-
NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT4976OPA1Pathogenic-1RCV002287312; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361892193361904193361892-
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)4976OPA1Pathogenic1560377736RCV001253086; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933635631933635643:g.193363563_193363564insT-
NM_130837.3(OPA1):c.1737G>C (p.Gln579His)4976OPA1Conflicting interpretations of pathogenicity538099724RCV000280763|RCV001753810|RCV002523256; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MeSH:D030342,MedGen:C09501233193363572193363572NC_000003.11:g.193363572G>CClinGen:CA2759463CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.1773A>C (p.Ala591=)4976OPA1Benign78767626RCV000081751|RCV000319475|RCV000676698; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933648721933648723:g.193364872A>CClinGen:CA285701CN517202 not provided;
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)4976OPA1Pathogenic398124298RCV000023415|RCV000508898|RCV001659726|RCV002464072; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933648991933648993:g.193364899C>GClinGen:CA10575554,OMIM:605290.0015C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.1839G>A (p.Glu613=)4976OPA1Uncertain significance1734784679RCV001144444; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933649381933649383:g.193364938G>A-
NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)4976OPA1Likely pathogenic-1RCV002288384; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193364951193364951193364951-
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)4976OPA1Likely pathogenic1711513680RCV001353000; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193365877193365878193365876-
NM_130837.3(OPA1):c.1889A>T (p.Glu630Val)4976OPA1Uncertain significance-1RCV003164467; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193365877193365877-
NM_130837.3(OPA1):c.1935+1G>C4976OPA1Pathogenic/Likely pathogenic1711518217RCV001171734|RCV002290609; NMedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933659241933659243:g.193365924G>C-
NM_130837.3(OPA1):c.2049A>G (p.Val683=)4976OPA1Benign/Likely benign73069703RCV000081756|RCV000376369|RCV000676699; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933726871933726873:g.193372687A>GClinGen:CA285707CN517202 not provided;
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)4976OPA1Conflicting interpretations of pathogenicity138114609RCV000176099|RCV000724106|RCV001144445; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933727261933727263:g.193372726G>AClinGen:CA241961CN169374 not specified;
NM_130837.3(OPA1):c.2142del (p.Gln714fs)4976OPA1Likely pathogenic2109139435RCV001375870; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193372780193372780193372779-
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)4976OPA1Uncertain significance755591067RCV001267307|RCV001880138|RCV002290675|RCV003399040; NMeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN16937431933749491933749543:g.193374949_193374954del-
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)4976OPA1Benign9851685RCV000081757|RCV000576858|RCV000676700|RCV001787889|RCV001787887|RCV001787888; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:123931933749641933749643:g.193374964T>CClinGen:CA285712C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2287del (p.Ser763fs)4976OPA1Pathogenic1219753329RCV001249637|RCV001587285|RCV003393921; NMONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239; MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250; MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|31933749751933749753:g.193374975_193374975del-
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter)4976OPA1Pathogenic772382178RCV001591808; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193374983193374983193374983-
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)4976OPA1Pathogenic/Likely pathogenic863224906RCV000199194|RCV000756450; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933749861933749863:g.193374986C>TClinGen:CA279008C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)4976OPA1Pathogenic1577297114RCV000987382; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933750041933750053:g.193375004_193375005del-
NM_130837.3(OPA1):c.2331+10T>C4976OPA1Benign/Likely benign371096629RCV000341454|RCV000828294|RCV001660716; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MedGen:CN1693743193375031193375031NC_000003.11:g.193375031T>CClinGen:CA2759621CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp)4976OPA1Conflicting interpretations of pathogenicity190235251RCV000195741|RCV000287680; NMedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193377336193377336NC_000003.11:g.193377336C>TClinGen:CA320108,UniProtKB:O60313#VAR_060861CN169374 not specified;
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)4976OPA1Conflicting interpretations of pathogenicity200428940RCV001144446|RCV002557085|RCV003283996|RCV003396771; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|31933806211933806213:g.193380621A>G-
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)4976OPA1Conflicting interpretations of pathogenicity145999595RCV000712463|RCV001146347; NMedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933806821933806823:g.193380682T>CClinGen:CA2759700CN169374 not specified;
NM_130837.3(OPA1):c.2686del (p.Tyr896fs)4976OPA1Pathogenic2109253558RCV002210943; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193382691193382691193382690-
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)4976OPA1Pathogenic-1RCV002291141; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193382756193382757193382756-
NM_130837.3(OPA1):c.2778+1G>A4976OPA1Likely pathogenic-1RCV003388890; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193382786193382786-
NM_130837.3(OPA1):c.2778+11C>G4976OPA1Benign111688935RCV000081762|RCV000345029|RCV001516209; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933827961933827963:g.193382796C>GClinGen:CA285717CN169374 not specified;
NM_130837.3(OPA1):c.2779-9A>G4976OPA1Pathogenic/Likely pathogenic1716524583RCV001090771|RCV002287468|RCV003413905; NMedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|31933840761933840763:g.193384076A>G-
NM_130837.3(OPA1):c.2806del (p.Trp936fs)4976OPA1Likely pathogenic-1RCV002571624; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193384109193384109NC_000003.11:g.193384112del-
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)4976OPA1Uncertain significance-1RCV002651780|RCV003140146; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193384125193384125NC_000003.11:g.193384125G>A-
NM_130837.3(OPA1):c.2873_2876del4976OPA1Pathogenic/Likely pathogenic80356530RCV000005387|RCV000081763|RCV000210745|RCV000508703|RCV001073751|RCV001542739|RCV002287324|RCV002490322|RCV003319160|RCV003390643; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0000556,Human Phenot31933849571933849603:g.193384957_193384960delClinGen:CA143822,OMIM:605290.0003C0221061 210000 Abortive cerebellar ataxia;
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)4976OPA1Benign/Likely benign144898877RCV000127284|RCV000676701|RCV001146348; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933849661933849663:g.193384966A>GClinGen:CA292630CN517202 not provided;
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)4976OPA1Benign/Likely benign35540805RCV000081764|RCV000390234|RCV000676702; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933850471933850473:g.193385047C>TClinGen:CA285718CN517202 not provided;
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)4976OPA1Conflicting interpretations of pathogenicity375733283RCV000489553|RCV001146349|RCV002307519; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN16937431933850481933850483:g.193385048G>AClinGen:CA2759786CN517202 not provided;
NM_130837.3(OPA1):c.2973G>A (p.Ala991=)4976OPA1Benign117475774RCV000127286|RCV000309966|RCV001522935; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031933850591933850593:g.193385059G>AClinGen:CA292635CN169374 not specified;
NM_130837.3(OPA1):c.2973G>C (p.Ala991=)4976OPA1Conflicting interpretations of pathogenicity117475774RCV000427075|RCV001146350; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331933850591933850593:g.193385059G>CClinGen:CA2759789CN169374 not specified;
NM_130837.3(OPA1):c.2983+6T>A4976OPA1Conflicting interpretations of pathogenicity1577335678RCV000987383|RCV002549678; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231933850751933850753:g.193385075T>A-
NM_130837.3(OPA1):c.2984-4A>G4976OPA1Benign/Likely benign184273607RCV000197763|RCV000366930|RCV000895939; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C36619003193409848193409848NC_000003.11:g.193409848A>GClinGen:CA322235CN169374 not specified;
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)4976OPA1Likely pathogenic1721758840RCV001353002; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193409855193409855193409855-
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)4976OPA1Pathogenic/Likely pathogenic879255560RCV000005388|RCV000355298; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C366190031934098561934098593:g.193409856_193409859delClinGen:CA10575490,OMIM:605290.0004C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2991del (p.Arg998fs)4976OPA1Pathogenic80356531RCV000005393; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934098581934098583:g.193409858_193409858delClinGen:CA340337,OMIM:605290.0009C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)4976OPA1Uncertain significance-1RCV002289025; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193409863193409863193409863-
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)4976OPA1Pathogenic879255513RCV000005397|RCV000023413; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193409881193409882NC_000003.11:g.193409881_193409882delClinGen:CA10575493,OMIM:605290.0012C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr)4976OPA1Uncertain significance1166323851RCV001149147|RCV002032383; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN51720231934098841934098843:g.193409884G>A-
NM_130837.3(OPA1):c.*56C>T4976OPA1Uncertain significance564487151RCV000398600; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412445193412445NC_000003.11:g.193412445C>TClinGen:CA10615973CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*220A>G4976OPA1Benign76421015RCV000315355; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412609193412609NC_000003.11:g.193412609A>GClinGen:CA10618279CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*228A>G4976OPA1Benign577816325RCV001149148; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934126171934126173:g.193412617A>G-
NM_130837.3(OPA1):c.*260G>T4976OPA1Uncertain significance886058256RCV000353879; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412649193412649NC_000003.11:g.193412649G>TClinGen:CA10615975CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*283A>G4976OPA1Benign1061648RCV000261365; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412672193412672NC_000003.11:g.193412672A>GClinGen:CA10618280CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*322G>A4976OPA1Uncertain significance886058257RCV000318878; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412711193412711NC_000003.11:g.193412711G>AClinGen:CA10617902CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*341G>T4976OPA1Uncertain significance1042977453RCV001150653; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934127301934127303:g.193412730G>T-
NM_130837.3(OPA1):c.*376A>G4976OPA1Benign142349183RCV000357474; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412765193412765NC_000003.11:g.193412765A>GClinGen:CA10615443CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*403T>C4976OPA1Uncertain significance779665090RCV001150654; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934127921934127923:g.193412792T>C-
NM_130837.3(OPA1):c.*427A>T4976OPA1Uncertain significance565230692RCV001150655; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934128161934128163:g.193412816A>T-
NM_130837.3(OPA1):c.*560T>C4976OPA1Benign7643844RCV000265010; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412949193412949NC_000003.11:g.193412949T>CClinGen:CA10615445CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*614A>G4976OPA1Uncertain significance1321516515RCV001150656; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934130031934130033:g.193413003A>G-
NM_130837.3(OPA1):c.*622C>T4976OPA1Uncertain significance750359704RCV000322498; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413011193413011NC_000003.11:g.193413011C>TClinGen:CA10617903CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*623G>A4976OPA1Benign146468889RCV000379490; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413012193413012NC_000003.11:g.193413012G>AClinGen:CA10615446CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*694C>A4976OPA1Uncertain significance190367068RCV000268642; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413083193413083NC_000003.11:g.193413083C>AClinGen:CA10615451CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*743G>C4976OPA1Uncertain significance377022565RCV001144552; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934131321934131323:g.193413132G>C-
NM_130837.3(OPA1):c.*863A>G4976OPA1Uncertain significance193292545RCV000325992; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413252193413252NC_000003.11:g.193413252A>GClinGen:CA10617905CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1031A>T4976OPA1Benign114606850RCV000382891; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413420193413420NC_000003.11:g.193413420A>TClinGen:CA10618281CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1039A>G4976OPA1Uncertain significance548278496RCV001144553; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934134281934134283:g.193413428A>G-
NM_130837.3(OPA1):c.*1113C>T4976OPA1Benign12630RCV000290844; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413502193413502NC_000003.11:g.193413502C>TClinGen:CA10615460CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1131C>T4976OPA1Uncertain significance1004141070RCV001146482; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934135201934135203:g.193413520C>T-
NM_130837.3(OPA1):c.*1266G>A4976OPA1Uncertain significance932178332RCV001146483; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934136551934136553:g.193413655G>A-
NM_130837.3(OPA1):c.*1343A>G4976OPA1Benign1056366RCV000348053; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413732193413732NC_000003.11:g.193413732A>GClinGen:CA10618282CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1425G>A4976OPA1Benign117826024RCV000386286; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413814193413814NC_000003.11:g.193413814G>AClinGen:CA10615979CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1581A>C4976OPA1Uncertain significance976048011RCV001146484; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934139701934139703:g.193413970A>C-
NM_130837.3(OPA1):c.*1610C>A4976OPA1Benign73069785RCV000294308; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413999193413999NC_000003.11:g.193413999C>AClinGen:CA10615462CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1815T>C4976OPA1Uncertain significance570796106RCV000351531; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414204193414204NC_000003.11:g.193414204T>CClinGen:CA10615980CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1884C>T4976OPA1Uncertain significance549889830RCV001149256; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934142731934142733:g.193414273C>T-
NM_130837.3(OPA1):c.*1919T>A4976OPA1Uncertain significance867799524RCV000401195; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414308193414308NC_000003.11:g.193414308T>AClinGen:CA10615464CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1920C>A4976OPA1Uncertain significance868274533RCV001149257; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934143091934143093:g.193414309C>A-
NM_130837.3(OPA1):c.*2092C>T4976OPA1Benign1056390RCV000297019; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414481193414481NC_000003.11:g.193414481C>TClinGen:CA10615981CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2115G>A4976OPA1Benign144079165RCV000335665; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414504193414504NC_000003.11:g.193414504G>AClinGen:CA10615465CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2156A>G4976OPA1Uncertain significance886058258RCV000402263; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414545193414545NC_000003.11:g.193414545A>GClinGen:CA10615995CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2170A>G4976OPA1Uncertain significance921945798RCV001149258; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934145591934145593:g.193414559A>G-
NM_130837.3(OPA1):c.*2234G>A4976OPA1Uncertain significance1577422301RCV001149259; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934146231934146233:g.193414623G>A-
NM_130837.3(OPA1):c.*2241A>G4976OPA1Uncertain significance778074372RCV000300612; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414630193414630NC_000003.11:g.193414630A>GClinGen:CA10615996CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2283A>G4976OPA1Uncertain significance886058259RCV000357727; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414672193414672NC_000003.11:g.193414672A>GClinGen:CA10615466CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2286T>C4976OPA1Benign115575058RCV000265272; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414675193414675NC_000003.11:g.193414675T>CClinGen:CA10616000CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2344A>G4976OPA1Benign1056392RCV000304099; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414733193414733NC_000003.11:g.193414733A>GClinGen:CA10615467CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2391T>C4976OPA1Benign11719309RCV000361318; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414780193414780NC_000003.11:g.193414780T>CClinGen:CA10615470CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2408A>G4976OPA1Benign73069788RCV000268945; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414797193414797NC_000003.11:g.193414797A>GClinGen:CA10618283CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2416C>T4976OPA1Uncertain significance539683627RCV000326471; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414805193414805NC_000003.11:g.193414805C>TClinGen:CA10615474CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2692G>A4976OPA1Uncertain significance886058261RCV000272622; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415081193415081NC_000003.11:g.193415081G>AClinGen:CA10618284CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2694T>A4976OPA1Uncertain significance886058262RCV000330080; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415083193415083NC_000003.11:g.193415083T>AClinGen:CA10618285CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2801A>G4976OPA1Uncertain significance148268725RCV001144658; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934151901934151903:g.193415190A>G-
NM_130837.3(OPA1):c.*2839C>T4976OPA1Uncertain significance867048244RCV001144659; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934152281934152283:g.193415228C>T-
NM_130837.3(OPA1):c.*2861A>G4976OPA1Uncertain significance1456505503RCV001144660; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934152501934152503:g.193415250A>G-
NM_130837.3(OPA1):c.*2873A>T4976OPA1Benign10419RCV000386946; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415262193415262NC_000003.11:g.193415262A>TClinGen:CA10618286CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2902A>G4976OPA1Uncertain significance1030937333RCV001144661; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:9867331934152911934152913:g.193415291A>G-
NM_130837.3(OPA1):c.*2909A>T4976OPA1Uncertain significance886058263RCV000295063; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415298193415298NC_000003.11:g.193415298A>TClinGen:CA10615476CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2993C>A4976OPA1Benign143991575RCV000334843; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415382193415382NC_000003.11:g.193415382C>AClinGen:CA10617911CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*3027A>G4976OPA1Benign56329083RCV000373104; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415416193415416NC_000003.11:g.193415416A>GClinGen:CA10615479CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*3147G>C4976OPA1Uncertain significance886058264RCV000280852; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415536193415536NC_000003.11:g.193415536G>CClinGen:CA10615480CN239213 Optic Atrophy, Dominant;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198836 MSeqDR Search EnsemblOPA118176optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]00073

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