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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
NC_000003.12:g.193593196C>A4976OPA1Uncertain significancers532165115RCV001150415; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193310985193310985CA3:g.193310985C>A-
NC_000003.12:g.193593206T>A4976OPA1Benignrs146295726RCV001150416; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193310995193310995TA3:g.193310995T>A-
NM_130837.3(OPA1):c.-144T>C4976OPA1Uncertain significancers1057509207RCV001150417; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193311023193311023TC3:g.193311023T>C-
NM_130837.3(OPA1):c.-102G>A4976OPA1Uncertain significancers886058255RCV000328132; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193311065193311065GANC_000003.11:g.193311065G>AClinGen:CA10615439CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.-10C>T4976OPA1Conflicting interpretations of pathogenicityrs775614028RCV000432407|RCV001150418; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193311157193311157CT3:g.193311157C>TClinGen:CA2758884CN169374 not specified;
NM_130837.3(OPA1):c.-8C>T4976OPA1Uncertain significancers371988066RCV000387335; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193311159193311159CTNC_000003.11:g.193311159C>TClinGen:CA2758886CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.-3G>A4976OPA1Uncertain significancers964787052RCV001150419; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193311164193311164GA3:g.193311164G>A-
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser)4976OPA1Uncertain significancers794726939RCV000173452|RCV000723425; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193311188193311188GT3:g.193311188G>TClinGen:CA274916,UniProtKB:O60313#VAR_060825C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.32+14C>T4976OPA1Benign/Likely benignrs201927764RCV000612148|RCV001150420|RCV002063278; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193311212193311212CT3:g.193311212C>TClinGen:CA2758889CN169374 not specified;
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)4976OPA1Benignrs75414918RCV000081767|RCV000295836|RCV000710167|RCV001787895|RCV001787894|RCV001787893; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193332522193332522CA3:g.193332522C>AClinGen:CA285728CN169374 not specified;
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)4976OPA1Conflicting interpretations of pathogenicityrs201520438RCV000332084|RCV000488273; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193332549193332549AGNC_000003.11:g.193332549A>GClinGen:CA321129CN517202 not provided;
NM_130837.3(OPA1):c.88C>T (p.Leu30=)4976OPA1Conflicting interpretations of pathogenicityrs185976555RCV000198587|RCV000998191|RCV001144334; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193332567193332567CT3:g.193332567C>TClinGen:CA323113CN169374 not specified;
NM_130837.3(OPA1):c.164dup (p.Leu55fs)4976OPA1Likely pathogenicrs1728771454RCV001291943; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193332641193332642AAT193332641-
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)4976OPA1Conflicting interpretations of pathogenicityrs151103940RCV000731858|RCV000903690|RCV000987376; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193332718193332718AGNC_000003.11:g.193332718A>G-
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)4976OPA1Benign/Likely benignrs372435892RCV000372840|RCV000914591; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193332732193332732CTNC_000003.11:g.193332732C>TClinGen:CA2758961CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.254G>A (p.Arg85His)4976OPA1Conflicting interpretations of pathogenicityrs35630194RCV000081761|RCV000278316|RCV001509225; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193332733193332733GA3:g.193332733G>AClinGen:CA148772CN169374 not specified;
NM_130837.3(OPA1):c.321G>A (p.Ser107=)4976OPA1Benignrs117888848RCV000081765|RCV000337795|RCV000712466|RCV001787891|RCV001787892|RCV001787890; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193332800193332800GA3:g.193332800G>AClinGen:CA148777CN169374 not specified;
NM_130837.3(OPA1):c.339C>T (p.Tyr113=)4976OPA1Likely benignrs779836454RCV000394495|RCV000911638; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193332818193332818CTNC_000003.11:g.193332818C>TClinGen:CA2758983CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.357del (p.Phe119fs)4976OPA1Pathogenic-1RCV002052147; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193333465193333465CTC193333464-
NM_130837.3(OPA1):c.420G>T (p.Val140=)4976OPA1Benignrs35801538RCV000081766|RCV000284097|RCV000676691; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193333531193333531GT3:g.193333531G>TClinGen:CA285723CN517202 not provided;
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)4976OPA1Benignrs7624750RCV000081768|RCV000676692|RCV000987377; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193334991193334991GA3: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 pathogenicityrs150279202RCV000197961|RCV000400476; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193335048193335048GT3:g.193335048G>TClinGen:CA322427CN169374 not specified;
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu)4976OPA1Likely benignrs769335936RCV000304297; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193335062193335062TCNC_000003.11:g.193335062T>CClinGen:CA2759041CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.556+2T>G4976OPA1Uncertain significancers762390227RCV001146232; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193335076193335076TG3:g.193335076T>G-
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)4976OPA1Conflicting interpretations of pathogenicityrs772090345RCV001146233|RCV001566180; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193336664193336664CT3:g.193336664C>T-
NM_130837.3(OPA1):c.629C>T (p.Ala210Val)4976OPA1Benignrs34307082RCV000081770|RCV000363524|RCV000676693; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193336676193336676CT3:g.193336676C>TClinGen:CA285739,UniProtKB:O60313#VAR_022926CN517202 not provided;
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)4976OPA1Conflicting interpretations of pathogenicityrs200243596RCV000390873|RCV000489535|RCV000765718; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0011693,MedGen:C1847730,OMIM:606657; MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673; MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239; M3193336700193336700CTNC_000003.11:g.193336700C>TClinGen:CA2759090CN169374 not specified;
NM_130837.3(OPA1):c.678+13G>C4976OPA1Benignrs561115644RCV001146234|RCV002070772; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193336738193336738GC3:g.193336738G>C-
NM_130837.3(OPA1):c.740G>A (p.Arg247His)4976OPA1Uncertain significancers138350727RCV000055988|RCV000657875; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193343942193343942GA3:g.193343942G>AClinGen:CA345078C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.790-4T>A4976OPA1Conflicting interpretations of pathogenicityrs374509936RCV000153618|RCV001149026; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193349397193349397TA3:g.193349397T>AClinGen:CA234459CN169374 not specified;
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys)4976OPA1Uncertain significancers760177302RCV001149027; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193353214193353214AG3:g.193353214A>G-
NM_130837.3(OPA1):c.885C>G (p.Asn295Lys)4976OPA1Likely pathogenic-1RCV001647169; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193353248193353248CG193353248-
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter)4976OPA1Pathogenicrs863225274RCV000201902; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193353256193353256TA3:g.193353256T>AClinGen:CA347681C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)4976OPA1Pathogenicrs1488795500RCV001253178; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193353265193353265TG3:g.193353265T>G-
NM_130837.3(OPA1):c.949-11A>C4976OPA1Benign/Likely benignrs376681712RCV001149028|RCV001703481; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193354973193354973AC3:g.193354973A>CClinGen:CA2759226CN169374 not specified;
NM_130837.3(OPA1):c.985G>A (p.Val329Ile)4976OPA1Uncertain significancers1347426414RCV001149029; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355020193355020GA3:g.193355020G>A-
NM_130837.3(OPA1):c.990C>T (p.Leu330=)4976OPA1Conflicting interpretations of pathogenicityrs201242590RCV000310228|RCV002057873; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193355025193355025CTNC_000003.11:g.193355025C>TClinGen:CA2759230CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)4976OPA1Uncertain significancers141326740RCV000712469|RCV001332089; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355051193355051CTNC_000003.11:g.193355051C>T-
NM_130837.3(OPA1):c.1017G>A (p.Thr339=)4976OPA1Likely benignrs758922394RCV000364856|RCV002057874; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193355052193355052GANC_000003.11:g.193355052G>AClinGen:CA2759234CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)4976OPA1Pathogenic/Likely pathogenicrs121908375RCV000005389|RCV000790668|RCV001336297; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193355069193355069GA3:g.193355069G>AClinGen:CA223219,UniProtKB:O60313#VAR_011483,OMIM:605290.0005C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1035+4T>C4976OPA1Benignrs166850RCV000081773|RCV000576690|RCV000676694|RCV001787898|RCV001787896|RCV001787897; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:12393193355074193355074TC3:g.193355074T>CClinGen:CA285744C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1035+5G>A4976OPA1Pathogenic/Likely pathogenicrs754576717RCV000498640|RCV000678587; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355075193355075GA3:g.193355075G>AClinGen:CA2759236C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1036-9T>C4976OPA1Uncertain significancers531187028RCV000330155; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355732193355732TCNC_000003.11:g.193355732T>CClinGen:CA2759251CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)4976OPA1Likely pathogenicrs1553876590RCV000519528|RCV000709838; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355741193355741GC3:g.193355741G>CClinGen:CA355788115CN517202 not provided;
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)4976OPA1Pathogenic/Likely pathogenicrs1577228080RCV000987378|RCV001374996; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C15359263193355756193355756GC3:g.193355756G>C-
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu)4976OPA1Pathogenicrs28939082RCV000005385; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355769193355769GA3:g.193355769G>AClinGen:CA253410,UniProtKB:O60313#VAR_011484,OMIM:605290.0001C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)4976OPA1Pathogenicrs398124303RCV000081775|RCV000180653; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355853193355853AG3:g.193355853A>GClinGen:CA285745C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1149+3A>T4976OPA1Uncertain significancers1733207545RCV001255704; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193355857193355857AT3:g.193355857A>T-
NM_130837.3(OPA1):c.1150-1G>A4976OPA1Pathogenicrs879255510RCV000005386|RCV000518060; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193360553193360553GANC_000003.11:g.193360553G>AClinGen:CA10575489,OMIM:605290.0002C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1230+1G>T4976OPA1Pathogenicrs80356528RCV000020717; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193360635193360635GT3:g.193360635G>TClinGen:CA342176C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs)4976OPA1Pathogenicrs863225275RCV000201881; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193360764193360765CCTT3:g.193360764_193360765insTTClinGen:CA347674C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)4976OPA1Benign/Likely benignrs150807064RCV000081745|RCV000370837|RCV000676696; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193360769193360769AG3:g.193360769A>GClinGen:CA285691CN517202 not provided;
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)4976OPA1Pathogenicrs104893753RCV000005390|RCV000790742; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193360794193360794CT3:g.193360794C>TClinGen:CA223199,OMIM:605290.0006C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp)4976OPA1Conflicting interpretations of pathogenicityrs146003075RCV001150534|RCV001882465; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193360819193360819GA3:g.193360819G>A-
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly)4976OPA1Uncertain significancers1313421147RCV000987379; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193360821193360821TG3:g.193360821T>G-
NM_130837.3(OPA1):c.1302T>G (p.Pro434=)4976OPA1Benign/Likely benignrs139861334RCV000200427|RCV000277400|RCV000923286; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193360835193360835TGNC_000003.11:g.193360835T>GClinGen:CA324994CN169374 not specified;
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)4976OPA1Conflicting interpretations of pathogenicityrs143319805RCV000043607|RCV000081747|RCV000210748|RCV000677258|RCV001249638|RCV001267306; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|Human Phenotype Ontology:HP:0000609,Human Phenotype Ontology:HP:0007273,MedGen:C0338502|MONDO:MONDO:0008858,MedG3193361167193361167AG3:g.193361167A>GClinGen:CA143824,UniProtKB:O60313#VAR_060837,OMIM:605290.0018C0221061 210000 Abortive cerebellar ataxia;
NM_130837.3(OPA1):c.1342A>C (p.Arg448=)4976OPA1Benignrs149752576RCV000081748|RCV000373000|RCV000971269; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193361198193361198AC3:g.193361198A>CClinGen:CA285696CN169374 not specified;
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp)4976OPA1Pathogenicrs863225276RCV000201900; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361223193361223GA3:g.193361223G>AClinGen:CA347676C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)4976OPA1Likely pathogenicrs1577243012RCV000987380; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361393193361393AT3:g.193361393A>T-
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del)4976OPA1Pathogenicrs879255511RCV000005391; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361397193361399CCATC3:g.193361397_193361399delClinGen:CA10575491,OMIM:605290.0007C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg)4976OPA1Pathogenicrs863225277RCV000201926|RCV000274390; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193361414193361414AG3:g.193361414A>GClinGen:CA347686C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)4976OPA1Pathogenicrs1577244261RCV000987381; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361797193361797CG3:g.193361797C>G-
NM_130837.3(OPA1):c.1519del (p.Val507fs)4976OPA1Pathogenicrs879255512RCV000005392; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361804193361804TGTNC_000003.11:g.193361805delClinGen:CA10575492,OMIM:605290.0008C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile)4976OPA1Uncertain significancers779722414RCV001150535; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193361877193361877GA3:g.193361877G>A-
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)4976OPA1Pathogenicrs1560377736RCV001253086; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193363563193363564GGT3:g.193363563_193363564insT-
NM_130837.3(OPA1):c.1737G>C (p.Gln579His)4976OPA1Conflicting interpretations of pathogenicityrs538099724RCV000280763|RCV001753810; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193363572193363572GCNC_000003.11:g.193363572G>CClinGen:CA2759463CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.1773A>C (p.Ala591=)4976OPA1Benignrs78767626RCV000081751|RCV000319475|RCV000676698; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193364872193364872AC3:g.193364872A>CClinGen:CA285701CN517202 not provided;
NM_130837.3(OPA1):c.1839G>A (p.Glu613=)4976OPA1Uncertain significancers1734784679RCV001144444; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193364938193364938GA3:g.193364938G>A-
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)4976OPA1Likely pathogenicrs1711513680RCV001353000; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193365877193365878GAAG193365876-
NM_130837.3(OPA1):c.2049A>G (p.Val683=)4976OPA1Benign/Likely benignrs73069703RCV000081756|RCV000376369|RCV000676699; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193372687193372687AG3:g.193372687A>GClinGen:CA285707CN517202 not provided;
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)4976OPA1Conflicting interpretations of pathogenicityrs138114609RCV000176099|RCV000724106|RCV001144445; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193372726193372726GA3:g.193372726G>AClinGen:CA241961CN169374 not specified;
NM_130837.3(OPA1):c.2142del (p.Gln714fs)4976OPA1Likely pathogenic-1RCV001375870; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193372780193372780AGA193372779-
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)4976OPA1Benignrs9851685RCV000081757|RCV000676700|RCV000576858|RCV001787888|RCV001787889|RCV001787887; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193374964193374964TC3:g.193374964T>CClinGen:CA285712C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2287del (p.Ser763fs)4976OPA1Pathogenicrs1219753329RCV001249637|RCV001587285; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673; MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250; MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MedGen:CN5172023193374975193374975GAG3:g.193374975_193374975del-
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter)4976OPA1Pathogenic-1RCV001591808; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193374983193374983AT193374983-
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)4976OPA1Pathogenic/Likely pathogenicrs863224906RCV000199194|RCV000756450; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193374986193374986CT3:g.193374986C>TClinGen:CA279008C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)4976OPA1Pathogenicrs1577297114RCV000987382; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193375004193375005CTTC3:g.193375004_193375005del-
NM_130837.3(OPA1):c.2331+10T>C4976OPA1Benign/Likely benignrs371096629RCV000341454|RCV000828294|RCV001660716; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MedGen:CN1693743193375031193375031TCNC_000003.11:g.193375031T>CClinGen:CA2759621CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp)4976OPA1Conflicting interpretations of pathogenicityrs190235251RCV000195741|RCV000287680; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193377336193377336CTNC_000003.11:g.193377336C>TClinGen:CA320108,UniProtKB:O60313#VAR_060861CN169374 not specified;
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)4976OPA1Uncertain significancers200428940RCV001144446; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193380621193380621AG3:g.193380621A>G-
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)4976OPA1Conflicting interpretations of pathogenicityrs145999595RCV000712463|RCV001146347; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193380682193380682TC3:g.193380682T>CClinGen:CA2759700CN169374 not specified;
NM_130837.3(OPA1):c.2686del (p.Tyr896fs)4976OPA1Pathogenic-1RCV002210943; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193382691193382691GTG193382690-
NM_130837.3(OPA1):c.2778+11C>G4976OPA1Benignrs111688935RCV000081762|RCV000345029|RCV001516209; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193382796193382796CG3:g.193382796C>GClinGen:CA285717CN169374 not specified;
NM_130837.3(OPA1):c.2873_2876del4976OPA1Pathogenic/Likely pathogenicrs80356530RCV000005387|RCV000081763|RCV000210745|RCV000508703|RCV001073751|RCV001542739; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:3193384957193384960CAGTTC3:g.193384957_193384960delClinGen:CA143822,OMIM:605290.0003C0221061 210000 Abortive cerebellar ataxia;
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)4976OPA1Benign/Likely benignrs144898877RCV000127284|RCV000676701|RCV001146348; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193384966193384966AG3:g.193384966A>GClinGen:CA292630CN517202 not provided;
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)4976OPA1Benign/Likely benignrs35540805RCV000081764|RCV000390234|RCV000676702; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193385047193385047CT3:g.193385047C>TClinGen:CA285718CN517202 not provided;
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)4976OPA1Conflicting interpretations of pathogenicityrs375733283RCV000489553|RCV001146349; NMedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193385048193385048GA3:g.193385048G>AClinGen:CA2759786CN517202 not provided;
NM_130837.3(OPA1):c.2973G>A (p.Ala991=)4976OPA1Benignrs117475774RCV000127286|RCV000309966|RCV001522935; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193385059193385059GA3:g.193385059G>AClinGen:CA292635CN169374 not specified;
NM_130837.3(OPA1):c.2973G>C (p.Ala991=)4976OPA1Conflicting interpretations of pathogenicityrs117475774RCV000427075|RCV001146350; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193385059193385059GC3:g.193385059G>CClinGen:CA2759789CN169374 not specified;
NM_130837.3(OPA1):c.2983+6T>A4976OPA1Likely pathogenicrs1577335678RCV000987383; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193385075193385075TA3:g.193385075T>A-
NM_130837.3(OPA1):c.2984-4A>G4976OPA1Benignrs184273607RCV000197763|RCV000366930|RCV000895939; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193409848193409848AGNC_000003.11:g.193409848A>GClinGen:CA322235CN169374 not specified;
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)4976OPA1Likely pathogenicrs1721758840RCV001353002; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193409855193409855AC193409855-
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)4976OPA1Pathogenic/Likely pathogenicrs879255560RCV000005388|RCV000355298; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193409856193409859AAGTTA3:g.193409856_193409859delClinGen:CA10575490,OMIM:605290.0004C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2991del (p.Arg998fs)4976OPA1Pathogenicrs80356531RCV000005393; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193409858193409858GTG3:g.193409858_193409858delClinGen:CA340337,OMIM:605290.0009C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)4976OPA1Pathogenicrs879255513RCV000005397|RCV000023413; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193409881193409882TGATNC_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 significancers1166323851RCV001149147|RCV002032383; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN5172023193409884193409884GA3:g.193409884G>A-
NM_130837.3(OPA1):c.*56C>T4976OPA1Uncertain significancers564487151RCV000398600; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412445193412445CTNC_000003.11:g.193412445C>TClinGen:CA10615973CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*220A>G4976OPA1Benignrs76421015RCV000315355; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412609193412609AGNC_000003.11:g.193412609A>GClinGen:CA10618279CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*228A>G4976OPA1Benignrs577816325RCV001149148; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412617193412617AG3:g.193412617A>G-
NM_130837.3(OPA1):c.*260G>T4976OPA1Uncertain significancers886058256RCV000353879; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412649193412649GTNC_000003.11:g.193412649G>TClinGen:CA10615975CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*283A>G4976OPA1Benignrs1061648RCV000261365; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412672193412672AGNC_000003.11:g.193412672A>GClinGen:CA10618280CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*322G>A4976OPA1Uncertain significancers886058257RCV000318878; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412711193412711GANC_000003.11:g.193412711G>AClinGen:CA10617902CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*341G>T4976OPA1Uncertain significancers1042977453RCV001150653; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412730193412730GT3:g.193412730G>T-
NM_130837.3(OPA1):c.*376A>G4976OPA1Benignrs142349183RCV000357474; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412765193412765AGNC_000003.11:g.193412765A>GClinGen:CA10615443CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*403T>C4976OPA1Uncertain significancers779665090RCV001150654; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412792193412792TC3:g.193412792T>C-
NM_130837.3(OPA1):c.*427A>T4976OPA1Uncertain significancers565230692RCV001150655; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412816193412816AT3:g.193412816A>T-
NM_130837.3(OPA1):c.*560T>C4976OPA1Benignrs7643844RCV000265010; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193412949193412949TCNC_000003.11:g.193412949T>CClinGen:CA10615445CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*614A>G4976OPA1Uncertain significancers1321516515RCV001150656; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413003193413003AG3:g.193413003A>G-
NM_130837.3(OPA1):c.*622C>T4976OPA1Uncertain significancers750359704RCV000322498; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413011193413011CTNC_000003.11:g.193413011C>TClinGen:CA10617903CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*623G>A4976OPA1Benignrs146468889RCV000379490; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413012193413012GANC_000003.11:g.193413012G>AClinGen:CA10615446CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*694C>A4976OPA1Uncertain significancers190367068RCV000268642; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413083193413083CANC_000003.11:g.193413083C>AClinGen:CA10615451CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*743G>C4976OPA1Uncertain significancers377022565RCV001144552; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413132193413132GC3:g.193413132G>C-
NM_130837.3(OPA1):c.*863A>G4976OPA1Uncertain significancers193292545RCV000325992; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413252193413252AGNC_000003.11:g.193413252A>GClinGen:CA10617905CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1031A>T4976OPA1Benignrs114606850RCV000382891; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413420193413420ATNC_000003.11:g.193413420A>TClinGen:CA10618281CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1039A>G4976OPA1Uncertain significancers548278496RCV001144553; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413428193413428AG3:g.193413428A>G-
NM_130837.3(OPA1):c.*1113C>T4976OPA1Benignrs12630RCV000290844; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413502193413502CTNC_000003.11:g.193413502C>TClinGen:CA10615460CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1131C>T4976OPA1Uncertain significancers1004141070RCV001146482; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413520193413520CT3:g.193413520C>T-
NM_130837.3(OPA1):c.*1266G>A4976OPA1Uncertain significancers932178332RCV001146483; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413655193413655GA3:g.193413655G>A-
NM_130837.3(OPA1):c.*1343A>G4976OPA1Benignrs1056366RCV000348053; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413732193413732AGNC_000003.11:g.193413732A>GClinGen:CA10618282CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1425G>A4976OPA1Benignrs117826024RCV000386286; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413814193413814GANC_000003.11:g.193413814G>AClinGen:CA10615979CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1581A>C4976OPA1Uncertain significancers976048011RCV001146484; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413970193413970AC3:g.193413970A>C-
NM_130837.3(OPA1):c.*1610C>A4976OPA1Benignrs73069785RCV000294308; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193413999193413999CANC_000003.11:g.193413999C>AClinGen:CA10615462CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1815T>C4976OPA1Uncertain significancers570796106RCV000351531; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414204193414204TCNC_000003.11:g.193414204T>CClinGen:CA10615980CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1884C>T4976OPA1Uncertain significancers549889830RCV001149256; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414273193414273CT3:g.193414273C>T-
NM_130837.3(OPA1):c.*1919T>A4976OPA1Uncertain significancers867799524RCV000401195; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414308193414308TANC_000003.11:g.193414308T>AClinGen:CA10615464CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*1920C>A4976OPA1Uncertain significancers868274533RCV001149257; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414309193414309CA3:g.193414309C>A-
NM_130837.3(OPA1):c.*2092C>T4976OPA1Benignrs1056390RCV000297019; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414481193414481CTNC_000003.11:g.193414481C>TClinGen:CA10615981CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2115G>A4976OPA1Benignrs144079165RCV000335665; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414504193414504GANC_000003.11:g.193414504G>AClinGen:CA10615465CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2156A>G4976OPA1Uncertain significancers886058258RCV000402263; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414545193414545AGNC_000003.11:g.193414545A>GClinGen:CA10615995CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2170A>G4976OPA1Uncertain significancers921945798RCV001149258; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414559193414559AG3:g.193414559A>G-
NM_130837.3(OPA1):c.*2234G>A4976OPA1Uncertain significancers1577422301RCV001149259; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414623193414623GA3:g.193414623G>A-
NM_130837.3(OPA1):c.*2241A>G4976OPA1Uncertain significancers778074372RCV000300612; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414630193414630AGNC_000003.11:g.193414630A>GClinGen:CA10615996CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2283A>G4976OPA1Uncertain significancers886058259RCV000357727; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414672193414672AGNC_000003.11:g.193414672A>GClinGen:CA10615466CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2286T>C4976OPA1Benignrs115575058RCV000265272; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414675193414675TCNC_000003.11:g.193414675T>CClinGen:CA10616000CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2344A>G4976OPA1Benignrs1056392RCV000304099; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414733193414733AGNC_000003.11:g.193414733A>GClinGen:CA10615467CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2391T>C4976OPA1Benignrs11719309RCV000361318; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414780193414780TCNC_000003.11:g.193414780T>CClinGen:CA10615470CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2408A>G4976OPA1Benignrs73069788RCV000268945; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414797193414797AGNC_000003.11:g.193414797A>GClinGen:CA10618283CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2416C>T4976OPA1Uncertain significancers539683627RCV000326471; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193414805193414805CTNC_000003.11:g.193414805C>TClinGen:CA10615474CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2692G>A4976OPA1Uncertain significancers886058261RCV000272622; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415081193415081GANC_000003.11:g.193415081G>AClinGen:CA10618284CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2694T>A4976OPA1Uncertain significancers886058262RCV000330080; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415083193415083TANC_000003.11:g.193415083T>AClinGen:CA10618285CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2801A>G4976OPA1Uncertain significancers148268725RCV001144658; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415190193415190AG3:g.193415190A>G-
NM_130837.3(OPA1):c.*2839C>T4976OPA1Uncertain significancers867048244RCV001144659; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415228193415228CT3:g.193415228C>T-
NM_130837.3(OPA1):c.*2861A>G4976OPA1Uncertain significancers1456505503RCV001144660; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415250193415250AG3:g.193415250A>G-
NM_130837.3(OPA1):c.*2873A>T4976OPA1Benignrs10419RCV000386946; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415262193415262ATNC_000003.11:g.193415262A>TClinGen:CA10618286CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2902A>G4976OPA1Uncertain significancers1030937333RCV001144661; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415291193415291AG3:g.193415291A>G-
NM_130837.3(OPA1):c.*2909A>T4976OPA1Uncertain significancers886058263RCV000295063; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415298193415298ATNC_000003.11:g.193415298A>TClinGen:CA10615476CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*2993C>A4976OPA1Benignrs143991575RCV000334843; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415382193415382CANC_000003.11:g.193415382C>AClinGen:CA10617911CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*3027A>G4976OPA1Benignrs56329083RCV000373104; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415416193415416AGNC_000003.11:g.193415416A>GClinGen:CA10615479CN239213 Optic Atrophy, Dominant;
NM_130837.3(OPA1):c.*3147G>C4976OPA1Uncertain significancers886058264RCV000280852; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:986733193415536193415536GCNC_000003.11:g.193415536G>CClinGen:CA10615480CN239213 Optic Atrophy, Dominant;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198836 MSeqDR Search EnsemblOPA118150optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]00073

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