MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
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Metabolism, Inborn Errors (D008661)
Parent Node:
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Mitochondrial Diseases (D028361)
..Starting node
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Cytochrome-c Oxidase Deficiency (D030401)

       Child Nodes:
........expandCardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency (C565784)  LSDB  L: 00482;
........expandLeigh syndrome , French Canadian type (C537004)  LSDB  L: 00389;



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2952
Name:Cytochrome-c Oxidase Deficiency
Definition:A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
Alternative IDs:OMIM:220110
ParentIDs:MESH:D008661|MESH:D028361
TreeNumbers:C16.320.565.240 |C18.452.660.195
Synonyms:Complex IV Deficiencies |Complex IV Deficiency |Cox Deficiencies |Cox Deficiency |Cytochrome-c Oxidase Deficiencies |Cytochrome C Oxidase Deficiency |Cytochrome Oxidase Deficiencies |Cytochrome Oxidase Deficiency |Deficiencies, Complex IV |Deficiencies, Cox |Defic
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D030401
MeSH: D030401
OMIM: 220110;
MSeqDR LSDB: 00012;
MSeqDR has 2 matches in descendants: 00389; 00482;  
Genes: APOPT1; COA5; COX10; COX14; COX20; COX6B1; FASTKD2; PET100; TACO1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001427Mitochondrial inheritance
3 HP:0003355Aminoaciduria
4 HP:0001903Anemia
5 HP:0001251Ataxia
6 HP:0003688Decreased activity of cytochrome C oxidase in muscle tissue
7 HP:0001410Decreased liver function
8 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
9 HP:0002875Exertional dyspnea
10 HP:0001508Failure to thrive
11 HP:0001263Global developmental delay
NAMDC:  Mental retardation
12 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
13 HP:0003076Glycosuria
14 HP:0002240Hepatomegaly
15 HP:0003109Hyperphosphaturia
16 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
17 HP:0002490Increased CSF lactate
18 HP:0006565Increased hepatocellular lipid droplets
19 HP:0012240Increased intramyocellular lipid droplets
20 HP:0002151Increased serum lactate
21 HP:0001249Intellectual disability
22 HP:0003128Lactic acidosis
23 HP:0001270Motor delay
24 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
25 HP:0000648Optic atrophy
26 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
27 HP:0000093Proteinuria
28 HP:0000508Ptosis
NAMDC:  Ptosis
29 HP:0001994Renal Fanconi syndrome
30 HP:0000124Renal tubular dysfunction
31 HP:0002880Respiratory difficulties
32 HP:0002747Respiratory insufficiency due to muscle weakness
33 HP:0001250Seizures
NAMDC:  Seizures
34 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001040431.2(COA3):c.215A>G (p.Tyr72Cys)28958COA3Pathogenic139877390RCV000170599; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000174095018540950185OMIM Allelic Variant:614775.0002C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001040431.2(COA3):c.199dupC (p.Leu67Profs)28958COA3Pathogenic757472611RCV000170598; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000174095050140950501OMIM Allelic Variant:614775.0001C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_032374.4(COA8):c.163-1G>A84334COA8Pathogenic587777785RCV000144486; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400014104037959104037959OMIM Allelic Variant:616003.0002
NM_032374.4(COA8):c.235C>T (p.Arg79Ter)84334COA8Pathogenic587777784RCV000144485; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400014104038032104038032OMIM Allelic Variant:616003.0001
NM_032374.4(COA8):c.353T>C (p.Phe118Ser)84334COA8Conflicting interpretations of pathogenicity587777786RCV000144487; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400014104038150104038150OMIM Allelic Variant:616003.0003
NM_032374.4(COA8):c.370_372del (p.Glu124del)84334COA8Pathogenic587777787RCV000144488; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400014104040453104040455OMIM Allelic Variant:616003.0004
NM_001302652.1(COA8):c.515+1G>A84334COA8Uncertain significance900628637RCV000625884; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400014104053702104053702-
NM_001303.3(COX10):c.-170C>G1352COX10Uncertain significance886052597RCV000396008; RCV000278677; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397275313972753-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-112G>A1352COX10Benign6502330RCV000390210; RCV000336039; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397281113972811-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-109G>A1352COX10Likely benign28680987RCV000301058; RCV000367476; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397281413972814-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-90G>T1352COX10Uncertain significance886052598RCV000307762; RCV000407367; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397283313972833-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-63C>T1352COX10Uncertain significance77877576RCV000362420; RCV000277116; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397286013972860-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-40G>A1352COX10Uncertain significance376921957RCV000368067; RCV000332179; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397288313972883-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-29C>A1352COX10Uncertain significance373184679RCV000319115; RCV000273590; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397289413972894-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-24G>A1352COX10Uncertain significance201257809RCV000373740; RCV000279297; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397289913972899-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.33C>T (p.Arg11=)1352COX10Benign/Likely benign8076787RCV000315716; RCV000379378; RCV000676603; RCV000124570; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171397295513972955-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.64T>A (p.Trp22Arg)1352COX10Uncertain significance540737897RCV000339864; RCV000284888; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397766013977660-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.83C>T (p.Thr28Ile)1352COX10Benign/Likely benign16948978RCV000385025; RCV000290887; RCV000676604; RCV000124569; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171397767913977679UniProtKB (protein):Q12887#VAR_057371C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.123G>A (p.Arg41=)1352COX10Uncertain significance886052599RCV000400516; RCV000345876; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397771913977719-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.173G>A (p.Arg58His)1352COX10Uncertain significance772223730RCV000351189; RCV000315497; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171397776913977769-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.184A>T (p.Thr62Ser)1352COX10Benign/Likely benign2230351RCV000401023; RCV000311575; RCV000676605; RCV000124571; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171398005813980058UniProtKB (protein):Q12887#VAR_057372C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.192G>A (p.Leu64=)1352COX10Uncertain significance569444237RCV000262578; RCV000357092; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171398006613980066-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.290A>G (p.Tyr97Cys)1352COX10Benign/Likely benign16948986RCV000353817; RCV000298992; RCV000676606; RCV000124572; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171398016413980164UniProtKB (protein):Q12887#VAR_057373C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.311C>T (p.Pro104Leu)1352COX10Uncertain significance202207627RCV000764102; RCV000764102; RCV000521510; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202171398018513980185-CN169374 not specified;
NM_001303.3(COX10):c.476G>A (p.Arg159Gln)1352COX10Benign2072279RCV000322790; RCV000268376; RCV000676607; RCV000124574; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171398035013980350UniProtKB (protein):Q12887#VAR_060233C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.504G>A (p.Leu168=)1352COX10Benign2159132RCV000377462; RCV000264198; RCV000676608; RCV000124568; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171400543914005439-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.543G>A (p.Pro181=)1352COX10Uncertain significance371273328RCV000328617; RCV000383020; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171400547814005478-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.587C>A (p.Thr196Lys)1352COX10Pathogenic104894555RCV000007958; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000171400552214005522OMIM Allelic Variant:602125.0002,UniProtKB (protein):Q12887#VAR_026562C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.612C>A (p.Asn204Lys)1352COX10Pathogenic104894560RCV000007956; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000171400554714005547OMIM Allelic Variant:602125.0001,UniProtKB (protein):Q12887#VAR_026563C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.624+4A>G1352COX10Uncertain significance199668725RCV000343670; RCV000288666; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171400556314005563-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.674C>T (p.Pro225Leu)1352COX10Pathogenic104894556RCV000007959; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000171406324314063243OMIM Allelic Variant:602125.0003,UniProtKB (protein):Q12887#VAR_026564C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.699A>G (p.Pro233=)1352COX10Benign2230354RCV000294930; RCV000388928; RCV000124560; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374171409530914095309-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.909C>T (p.Ala303=)1352COX10Uncertain significance370260574RCV000349796; RCV000398956; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171409551914095519-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.928+12G>A1352COX10Benign/Likely benign200573622RCV000300689; RCV000337122; RCV000124563; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374171409555014095550-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.929-9_929-7dupCCC1352COX10Likely benign144296730RCV000297390; RCV000399268; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411011814110120-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.929-7C>T1352COX10Conflicting interpretations of pathogenicity62052075RCV000361435; RCV000265719; RCV000676610; RCV000179820; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171411012014110120-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.981C>T (p.Asn327=)1352COX10Conflicting interpretations of pathogenicity146175179RCV000302186; RCV000366250; RCV000513362; RCV000124565; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171411017914110179-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.982G>A (p.Ala328Thr)1352COX10Uncertain significance777911169RCV000660403; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000171411018014110180-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.1027T>C (p.Cys343Arg)1352COX10Uncertain significance200818252RCV000764103; RCV000764103; RCV000442977; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202171411022514110225-CN517202 not provided;
NM_001303.3(COX10):c.1038G>A (p.Ser346=)1352COX10Benign/Likely benign2230355RCV000326474; RCV000271444; RCV000124566; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374171411023614110236-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.1061G>A (p.Arg354Gln)1352COX10Uncertain significance745492359RCV000764104; RCV000764104; RCV000513659; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202171411025914110259-CN517202 not provided;
NM_001303.3(COX10):c.*13G>A1352COX10Uncertain significance371047487RCV000381042; RCV000277182; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411054314110543-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*150_*152delTTT1352COX10Uncertain significance200239586RCV000292276; RCV000319360; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411068014110682-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*151_*152delTT1352COX10Benign200239586RCV000332249; RCV000386652; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411068114110682-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*152T>A1352COX10Uncertain significance886052602RCV000373974; RCV000279241; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411068214110682-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*297G>A1352COX10Likely benign8076247RCV000396612; RCV000334328; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411082714110827-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*322T>C1352COX10Benign11078233RCV000341057; RCV000285265; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411085214110852-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*371A>G1352COX10Benign11078234RCV000310611; RCV000389973; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411090114110901-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*408G>A1352COX10Uncertain significance886052603RCV000398965; RCV000365321; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411093814110938-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*438G>C1352COX10Likely benign75823746RCV000371382; RCV000307272; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411096814110968-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*535C>A1352COX10Uncertain significance886052604RCV000331353; RCV000276817; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411106514111065-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*564dupG1352COX10Uncertain significance886052605RCV000263806; RCV000367377; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411109414111094-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*591_*592delAT1352COX10Uncertain significance886052606RCV000373561; RCV000318962; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411112114111122-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*628C>G1352COX10Uncertain significance886052607RCV000279032; RCV000324664; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411115814111158-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*646C>A1352COX10Benign7214082RCV000282929; RCV000379280; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411117614111176-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*646C>G1352COX10Uncertain significance7214082RCV000395029; RCV000347246; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411117614111176-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*739A>G1352COX10Uncertain significance886052608RCV000343596; RCV000288864; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411126914111269-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*757T>C1352COX10Benign1802618RCV000390456; RCV000313440; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411128714111287-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*823C>T1352COX10Uncertain significance886052609RCV000402295; RCV000368052; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411135314111353-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*833_*834delCT1352COX10Benign397763766RCV000355513; RCV000300799; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411136314111364-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*974C>A1352COX10Likely benign2071245RCV000260745; RCV000316091; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411150414111504-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1076T>C1352COX10Benign1050216RCV000361388; RCV000266831; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411160614111606-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1078C>T1352COX10Likely benign13183RCV000376624; RCV000321981; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411160814111608-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1101C>T1352COX10Likely benign75165393RCV000328872; RCV000271535; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411163114111631-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1324C>T1352COX10Likely benign75636595RCV000288971; RCV000381119; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411185414111854-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1367G>A1352COX10Uncertain significance555512140RCV000350985; RCV000389123; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411189714111897-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1385C>T1352COX10Likely benign1050223RCV000292528; RCV000349607; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411191514111915-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1459delC1352COX10Uncertain significance574015313RCV000394845; RCV000300582; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171411198914111989-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001257133.1(COX14):c.57G>A (p.Met19Ile)84987COX14Pathogenic587776904RCV000024195; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000125051388350513883OMIM Allelic Variant:614478.0001,UniProtKB (protein):Q96I36#VAR_067038C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*4473T>C1355COX15Uncertain significance10490941RCV000371158; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101468698101468698-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*4441G>C1355COX15Uncertain significance886046594RCV000398596; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101468730101468730-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*4439G>A1355COX15Uncertain significance201701928RCV000312805; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101468732101468732-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*4435A>G1355COX15Uncertain significance74152722RCV000356005; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101468736101468736-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*4392G>A1355COX15Uncertain significance764641759RCV000263601; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101468779101468779-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*4218C>T1355COX15Uncertain significance138423739RCV000316200; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101468953101468953-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*4152C>T1355COX15Uncertain significance886046595RCV000354673; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469019101469019-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*4110T>G1355COX15Uncertain significance56206689RCV000267088; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469061101469061-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3817A>G1355COX15Uncertain significance76530337RCV000324540; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469354101469354-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3755G>A1355COX15Uncertain significance886046596RCV000377611; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469416101469416-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3729C>G1355COX15Uncertain significance886046597RCV000271422; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469442101469442-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3661T>C1355COX15Likely benign73345141RCV000328704; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469510101469510-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3647A>T1355COX15Uncertain significance200422911RCV000381009; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469524101469524-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3566C>T1355COX15Benign2300983RCV000289074; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469605101469605-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3330A>G1355COX15Uncertain significance769776249RCV000350997; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469841101469841-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3268A>C1355COX15Likely benign1056844RCV000389345; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469903101469903-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3210C>T1355COX15Uncertain significance886046598RCV000292710; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101469961101469961-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.5(COX15):c.*3086G>T1355COX15Uncertain significance1000984RCV000349429; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470085101470085-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*2842T>C1355COX15Uncertain significance11190252RCV000397123; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470329101470329-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*2841G>A1355COX15Uncertain significance886046599RCV000300873; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470330101470330-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*2742A>G1355COX15Uncertain significance188328622RCV000334736; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470429101470429-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*2640T>G1355COX15Uncertain significance80332976RCV000390482; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470531101470531-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*2497G>A1355COX15Uncertain significance886046600RCV000304295; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470674101470674-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1570+741_*1570+742dup1355COX15Uncertain significance11405417RCV000264324; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470859101470860NC_000010.10:g.101470859_101470860dupAA-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1570+742dup1355COX15Benign11405417RCV000361237; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470859101470859NC_000010.10:g.101470859dupA-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*2244T>C1355COX15Likely benign10883407RCV000303474; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101470927101470927-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*2074T>C1355COX15Uncertain significance74775778RCV000365134; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471097101471097-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1725A>G1355COX15Uncertain significance886046601RCV000273011; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471446101471446-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1684A>G1355COX15Uncertain significance576268362RCV000325749; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471487101471487-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1582delT1355COX15Uncertain significance145731044RCV000382425; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471589101471589-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1528A>G1355COX15Uncertain significance886046602RCV000276513; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471643101471643-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1495C>G1355COX15Uncertain significance886046603RCV000333899; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471676101471676-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1476G>A1355COX15Likely benign1128642RCV000386007; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471695101471695-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1317T>C1355COX15Uncertain significance886046604RCV000294256; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471854101471854-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1286G>T1355COX15Uncertain significance886046605RCV000337594; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101471885101471885-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1109G>A1355COX15Uncertain significance762075313RCV000375739; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472062101472062-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*1020A>T1355COX15Uncertain significance557527426RCV000278990; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472151101472151-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*887C>T1355COX15Uncertain significance886046606RCV000336530; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472284101472284-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*678G>T1355COX15Uncertain significance754063121RCV000394010; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472493101472493-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*677G>T1355COX15Uncertain significance755134012RCV000306176; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472494101472494-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*620G>A1355COX15Uncertain significance574149332RCV000340075; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472551101472551-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*603T>A1355COX15Uncertain significance145963002RCV000394009; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472568101472568-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*543G>A1355COX15Uncertain significance186244558RCV000307331; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472628101472628-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*520G>A1355COX15Uncertain significance74981084RCV000366663; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472651101472651-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*421C>G1355COX15Uncertain significance886046607RCV000272094; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472750101472750-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*301C>T1355COX15Uncertain significance886046608RCV000313072; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472870101472870-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*256_*257del1355COX15Uncertain significance886046609RCV000367730; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472914101472915-
NM_004376.6(COX15):c.*188C>T1355COX15Uncertain significance886046610RCV000277894; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101472983101472983-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*136T>C1355COX15Uncertain significance556850599RCV000332883; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101473035101473035-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.*24T>C1355COX15Uncertain significance149696723RCV000354834; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101473147101473147-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.1120T>C (p.Phe374Leu)1355COX15Benign2231687RCV000259999; RCV000676871; RCV000116814; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN517202; MedGen:CN16937410101473218101473218-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.1116C>G (p.Phe372Leu)1355COX15Uncertain significance142892403RCV000319874; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101473222101473222-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.1029C>A (p.Leu343=)1355COX15Uncertain significance757725009RCV000374551; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101476177101476177-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.988-3C>T1355COX15Uncertain significance745556177RCV000284765; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101476221101476221-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.929C>G (p.Pro310Arg)1355COX15Uncertain significance138293000RCV000321049; RCV000195853; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN51720210101478161101478161-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.717G>T (p.Trp239Cys)1355COX15Uncertain significance886046611RCV000380272; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101483746101483746-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.582+14A>G1355COX15Conflicting interpretations of pathogenicity79410539RCV000285899; RCV000443501; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN16937410101486711101486711-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.406G>C (p.Asp136His)1355COX15Uncertain significance766429756RCV000345111; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101486901101486901-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.255T>C (p.Ile85=)1355COX15Uncertain significance147881961RCV000396573; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101489327101489327-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.164G>A (p.Arg55Lys)1355COX15Conflicting interpretations of pathogenicity777532861RCV000291406; RCV000197287; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN16937410101489418101489418-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.161G>A (p.Gly54Glu)1355COX15Uncertain significance781108007RCV000346270; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101489421101489421-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.131G>A (p.Ser44Asn)1355COX15Uncertain significance141506146RCV000398229; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101489451101489451-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.107G>A (p.Arg36His)1355COX15Uncertain significance763754710RCV000311404; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101489475101489475-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-26A>G1355COX15Uncertain significance2231677RCV000370770; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101491832101491832-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-71T>C1355COX15Uncertain significance886046612RCV000399762; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101491877101491877-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-84G>A1355COX15Uncertain significance574143521RCV000298560; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101491890101491890-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-114A>G1355COX15Uncertain significance539821050RCV000353428; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101491920101491920-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-133T>C1355COX15Uncertain significance566424487RCV000263213; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101491939101491939-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-232C>T1355COX15Uncertain significance886046613RCV000318410; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492038101492038-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-307C>G1355COX15Uncertain significance886046614RCV000359052; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492113101492113-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-338C>T1355COX15Uncertain significance751586131RCV000264245; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492144101492144-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-398C>A1355COX15Uncertain significance886046615RCV000324202; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492204101492204-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-406C>G1355COX15Uncertain significance11595470RCV000378719; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492212101492212-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-435C>T1355COX15Likely benign2231675RCV000288170; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492241101492241-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-472T>C1355COX15Uncertain significance550813748RCV000329155; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492278101492278-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-597A>C1355COX15Likely benign2281636RCV000383808; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492403101492403-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-602C>A1355COX15Uncertain significance886046616RCV000293898; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:6743400010101492408101492408-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001312871.1(COX20):c.154A>C (p.Thr52Pro)116228COX20Pathogenic587777004RCV000049300; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340001245005357245005357OMIM Allelic Variant:614698.0001C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_198076.4(COX20):c.157+3G>C116228COX20Uncertain significance367956888RCV000763846; RCV000441332; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN5172021245005363245005363-
NM_001863.5(COX6B1):c.-145G>A1340COX6B1Likely benign10420252RCV000269405; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000193613917236139172NC_000019.9:g.36139172G>A-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001863.5(COX6B1):c.-133A>G1340COX6B1Uncertain significance577036606RCV000308204; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000193613918436139184NC_000019.9:g.36139184A>G-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001863.5(COX6B1):c.-47A>G1340COX6B1Uncertain significance886054343RCV000365070; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000193613927036139270NC_000019.9:g.36139270A>G-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001863.5(COX6B1):c.42C>T (p.Thr14=)1340COX6B1Benign/Likely benign7991RCV000272774; RCV000677072; RCV000124587; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN517202; MedGen:CN169374193614218736142187-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys)1340COX6B1Pathogenic778740017RCV000201789; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000193614220336142203NC_000019.9:g.36142203C>TOMIM Allelic Variant:124089.0002C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001863.5(COX6B1):c.59G>A (p.Arg20His)1340COX6B1Pathogenic121909602RCV000018371; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000193614220436142204NC_000019.9:g.36142204G>AOMIM Allelic Variant:124089.0001,UniProtKB (protein):P14854#VAR_046775C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser)1340COX6B1Uncertain significance111638609RCV000320973; RCV000198288; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN517202193614953536149535NC_000019.9:g.36149535C>T-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004074.2(COX8A):c.115-1G>C1351COX8APathogenic869025575RCV000208577; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000116374369663743696OMIM Allelic Variant:123870.0001C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-178T>C22868FASTKD2Uncertain significance539716623RCV000279626; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207630251207630251-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-127G>C22868FASTKD2Uncertain significance886055503RCV000318282; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207630302207630302-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-123T>G22868FASTKD2Uncertain significance886055504RCV000375199; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207630306207630306-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-91C>T22868FASTKD2Likely benign3762567RCV000283058; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207630338207630338-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-88G>A22868FASTKD2Uncertain significance866957815RCV000340613; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207630341207630341-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-69C>T22868FASTKD2Conflicting interpretations of pathogenicity16838842RCV000394368; RCV000124988; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN1693742207630360207630360-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-51+14G>A22868FASTKD2Uncertain significance543042440RCV000286846; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207630392207630392-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-37C>T22868FASTKD2Uncertain significance765204520RCV000344110; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207631381207631381-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-30T>C22868FASTKD2Conflicting interpretations of pathogenicity145438423RCV000394353; RCV000432378; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN1693742207631388207631388-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.-15A>G22868FASTKD2Uncertain significance886055505RCV000309203; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207631403207631403-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.44G>A (p.Ser15Asn)22868FASTKD2Likely benign3762568RCV000366277; RCV000676951; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN5172022207631461207631461UniProtKB (protein):Q9NYY8#VAR_053889C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.225A>G (p.Arg75=)22868FASTKD2Uncertain significance374830420RCV000401019; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207631642207631642-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.527C>T (p.Ala176Val)22868FASTKD2Uncertain significance367909050RCV000299615; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207631944207631944-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.602G>A (p.Arg201His)22868FASTKD2Uncertain significance150994958RCV000354451; RCV000724884; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN5172022207632019207632019-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.832G>A (p.Glu278Lys)22868FASTKD2Uncertain significance886055506RCV000259503; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207634869207634869-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.991-13G>C22868FASTKD2Conflicting interpretations of pathogenicity13421046RCV000333402; RCV000606076; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN1693742207636605207636605-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001136194.1(FASTKD2):c.1294C>T (p.Arg432Ter)22868FASTKD2Pathogenic118203917RCV000000673; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207638988207638988OMIM Allelic Variant:612322.0001C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.1295G>A (p.Arg432Gln)22868FASTKD2Conflicting interpretations of pathogenicity372022584RCV000369329; RCV000199619; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN1693742207638989207638989-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.1428-13C>G22868FASTKD2Uncertain significance761492608RCV000274662; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207651444207651444-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.1690C>T (p.Gln564Ter)22868FASTKD2Pathogenic-1RCV000679984; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207652756207652756-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.1778C>T (p.Ser593Leu)22868FASTKD2Uncertain significance150016888RCV000329869; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207652844207652844-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.1992A>C (p.Ala664=)22868FASTKD2Uncertain significance149018757RCV000384357; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207655389207655389-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.2018A>G (p.Asn673Ser)22868FASTKD2Uncertain significance142211558RCV000289795; RCV000676953; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN5172022207656411207656411-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.2074A>G (p.Lys692Glu)22868FASTKD2Uncertain significance771134176RCV000326101; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207656467207656467-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.2093C>T (p.Ala698Val)22868FASTKD2Conflicting interpretations of pathogenicity146554705RCV000380780; RCV000514582; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN5172022207656486207656486-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*58G>A22868FASTKD2Uncertain significance183337182RCV000286398; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207656584207656584-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*87A>G22868FASTKD2Uncertain significance115098389RCV000341044; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207656613207656613-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*159C>A22868FASTKD2Uncertain significance549535843RCV000403855; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207656685207656685-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*399T>A22868FASTKD2Uncertain significance886055507RCV000282476; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207656925207656925-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*451C>T22868FASTKD2Uncertain significance192433004RCV000337544; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207656977207656977-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*557A>G22868FASTKD2Likely benign7559712RCV000397595; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657083207657083-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*585G>C22868FASTKD2Uncertain significance886055508RCV000297898; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657111207657111-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*624C>G22868FASTKD2Uncertain significance886055509RCV000371403; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657150207657150-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*627T>C22868FASTKD2Likely benign1048783RCV000397582; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657153207657153-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*672T>A22868FASTKD2Likely benign61672260RCV000312647; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657198207657198-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1010T>C22868FASTKD2Uncertain significance886055510RCV000367399; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657536207657536-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1036C>T22868FASTKD2Uncertain significance886055511RCV000273236; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657562207657562-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1159G>A22868FASTKD2Uncertain significance575685523RCV000328295; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657685207657685-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1180G>C22868FASTKD2Uncertain significance114333222RCV000364221; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657706207657706-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1202A>T22868FASTKD2Uncertain significance114726254RCV000269658; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657728207657728-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1215G>A22868FASTKD2Likely benign111954117RCV000324665; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657741207657741-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1270dupA22868FASTKD2Uncertain significance200366194RCV000379261; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657796207657796-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1335G>T22868FASTKD2Uncertain significance886055513RCV000265320; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657861207657861-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1345G>A22868FASTKD2Uncertain significance530276798RCV000320403; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657871207657871-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1438_*1449delAAAAAAAAAAAA22868FASTKD2Uncertain significance58656956RCV000375114; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657964207657975-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1446A>C22868FASTKD2Uncertain significance200685209RCV000280648; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657972207657972-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1452C>A22868FASTKD2Uncertain significance886055515RCV000335439; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207657978207657978-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1475dupC22868FASTKD2Likely benign111441789RCV000371479; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658001207658001-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1520dupG22868FASTKD2Uncertain significance886055517RCV000295840; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658046207658046-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1621A>G22868FASTKD2Uncertain significance548336967RCV000350742; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658147207658147-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*1981C>G22868FASTKD2Uncertain significance539483074RCV000396006; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658507207658507-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2009_*2010delAA22868FASTKD2Uncertain significance71930000RCV000311328; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658535207658536-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2069T>A22868FASTKD2Likely benign2193885RCV000347389; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658595207658595-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2114delT22868FASTKD2Uncertain significance547846330RCV000395967; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658640207658640-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2298C>T22868FASTKD2Uncertain significance746695830RCV000307895; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658824207658824-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2316G>A22868FASTKD2Uncertain significance576889447RCV000362538; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658842207658842-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2331C>T22868FASTKD2Uncertain significance568225901RCV000304432; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658857207658857-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2335_*2336dupCA22868FASTKD2Uncertain significance10655467RCV000268006; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658861207658862-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2428G>A22868FASTKD2Uncertain significance775360254RCV000358089; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658954207658954-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2431C>G22868FASTKD2Uncertain significance146898986RCV000263264; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207658957207658957-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2488T>C22868FASTKD2Likely benign6435351RCV000318408; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659014207659014-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2630G>A22868FASTKD2Uncertain significance547470657RCV000373008; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659156207659156-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2876A>G22868FASTKD2Uncertain significance886055520RCV000259576; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659402207659402-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*2960T>C22868FASTKD2Uncertain significance147381048RCV000333520; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659486207659486-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3005A>G22868FASTKD2Likely benign1001805RCV000387914; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659531207659531-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3080C>A22868FASTKD2Uncertain significance77797215RCV000293698; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659606207659606-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3112A>G22868FASTKD2Uncertain significance535264688RCV000348443; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659638207659638-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3238G>A22868FASTKD2Uncertain significance886055521RCV000384281; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659764207659764-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3355C>T22868FASTKD2Uncertain significance186521301RCV000289998; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659881207659881-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3380G>A22868FASTKD2Uncertain significance372815075RCV000345047; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659906207659906-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3472C>T22868FASTKD2Uncertain significance886055522RCV000405046; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207659998207659998-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3592C>T22868FASTKD2Uncertain significance564472346RCV000305328; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660118207660118-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3593G>A22868FASTKD2Uncertain significance150571344RCV000341451; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660119207660119-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3683G>T22868FASTKD2Uncertain significance886055523RCV000394694; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660209207660209-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3710C>T22868FASTKD2Uncertain significance550284931RCV000302519; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660236207660236-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3775C>T22868FASTKD2Uncertain significance886055524RCV000357411; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660301207660301-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3896A>C22868FASTKD2Uncertain significance886055525RCV000262575; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660422207660422-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*3990G>C22868FASTKD2Uncertain significance547229926RCV000298978; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660516207660516-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*4142T>C22868FASTKD2Uncertain significance755060762RCV000353976; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660668207660668-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*4199G>C22868FASTKD2Uncertain significance146262081RCV000277956; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660725207660725-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*4201C>T22868FASTKD2Uncertain significance531052965RCV000333019; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660727207660727-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_014929.3(FASTKD2):c.*4360A>G22868FASTKD2Uncertain significance886055526RCV000369058; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002207660886207660886-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_022915.3(MRPL44):c.584T>C (p.Phe195Ser)65080MRPL44not provided1553539922RCV000509564; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340002224824655224824655-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.6480G>A4512MT-CO1Pathogenic199476128RCV000010304; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M64806480OMIM Allelic Variant:516030.0004C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.6930G>A4512MT-CO1Pathogenic28679680RCV000010306; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M69306930OMIM Allelic Variant:516030.0006C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.7587T>C4513MT-CO2Pathogenic199474825RCV000010294; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M75877587OMIM Allelic Variant:516040.0001C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.7671T>A4513MT-CO2Pathogenic199474827RCV000010296; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M76717671OMIM Allelic Variant:516040.0003C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.7896G>A4513MT-CO2Pathogenic199474829RCV000010298; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M78967896OMIM Allelic Variant:516040.0005C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NC_012920.1:m.7965T>C4513MT-CO2Uncertain significance1556423369RCV000509036; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M79657965MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium,Children's Hospital Los Angeles:MSCV_0000006 C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.8042_8043delAT4513MT-CO2Pathogenic199474828RCV000010297; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M80428043OMIM Allelic Variant:516040.0004C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NC_012920.1:m.8088delT4513MT-CO2Pathogenic1556423388RCV000677242; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M80888088-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.9379G>A4514MT-CO3Pathogenic267606615RCV000010293; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M93799379OMIM Allelic Variant:516050.0006C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.9487_9501delTCGCAGGATTTTTCT4514MT-CO3Pathogenic267606612RCV000010289; RCV000010290; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4017626M94879501OMIM Allelic Variant:516050.0003C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.9537dupC4514MT-CO3Pathogenic267606614RCV000010292; RCV000144008; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M95379537OMIM Allelic Variant:516050.0005C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.9952G>A4514MT-CO3Pathogenic267606613RCV000010291; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000M99529952OMIM Allelic Variant:516050.0004C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.5728T>C4570MT-TNPathogenic199476132RCV000010248; RCV000010247; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; naM57285728OMIM Allelic Variant:590010.0003C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_005138.2(SCO2):c.776C>T (p.Ala259Val)-1NCAPH2;SCO2;TYMPBenign/Likely benign8139305RCV000383650; RCV000284953; RCV000369274; RCV000431453; RCV000128018; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096206550962065UniProtKB (protein):O43819#VAR_051912CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.633A>C (p.Ala211=)-1NCAPH2;SCO2;TYMPBenign12148RCV000404245; RCV000300513; RCV000269901; RCV000676288; RCV000128016; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096220850962208-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.582C>T (p.Ser194=)-1NCAPH2;SCO2;TYMPBenign/Likely benign131811RCV000406575; RCV000336884; RCV000324968; RCV000676289; RCV000128015; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096225950962259-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.327C>T (p.His109=)-1NCAPH2;SCO2;TYMPBenign/Likely benign75485962RCV000370305; RCV000310916; RCV000365573; RCV000676290; RCV000128014; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096251450962514-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.59G>C (p.Arg20Pro)-1NCAPH2;SCO2;TYMPBenign140523RCV000374348; RCV000338357; RCV000271220; RCV000676291; RCV000128012; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096278250962782UniProtKB (protein):O43819#VAR_011738CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001171155.1(PET100):c.3G>C (p.Met1Ile)100131801PET100Pathogenic587777839RCV000111466; RCV000413348; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN5172021976947227694722OMIM Allelic Variant:614770.0001C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001171155.1(PET100):c.142C>T (p.Gln48Ter)100131801PET100Pathogenic587779779RCV000144455; RCV000144455; RCV000240821; NHuman Phenotype Ontology:HP:0004902,MedGen:C4025276; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:674340001976963627696362OMIM Allelic Variant:614770.0002C4025276 Congenital lactic acidosis;
NM_004589.3(SCO1):c.*722C>G6341SCO1Benign7512RCV000304976; RCV000398310; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058371410583714-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*601delA6341SCO1Uncertain significance886052591RCV000361948; RCV000299179; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058383510583835-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*594A>G6341SCO1Uncertain significance183020275RCV000356075; RCV000263841; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058384210583842-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*403A>G6341SCO1Uncertain significance886052592RCV000368958; RCV000333830; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058403310584033-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*349C>G6341SCO1Uncertain significance151279533RCV000328062; RCV000381292; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058408710584087-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*320A=6341SCO1Benign2040570RCV000384875; RCV000283552; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058411610584116-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*310C>T6341SCO1Likely benign2662957RCV000401460; RCV000286496; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058412610584126-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*285C>T6341SCO1Uncertain significance886052593RCV000299262; RCV000390098; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058415110584151-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*272T>C6341SCO1Likely benign2662956RCV000369598; RCV000407294; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058416410584164-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*127A>G6341SCO1Uncertain significance779082082RCV000277363; RCV000306745; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058430910584309-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*61A>C6341SCO1Uncertain significance886052594RCV000271575; RCV000376525; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058437510584375-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.868A>G (p.Ile290Val)6341SCO1Uncertain significance139771078RCV000265637; RCV000324448; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171058447410584474-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.2(SCO1):c.787A>G (p.Ile263Val)6341SCO1Uncertain significance111708860RCV000375649; RCV000279936; RCV000195639; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202171058455510584555-
NM_004589.3(SCO1):c.769A>C (p.Ile257Leu)6341SCO1not provided1234427803RCV000509509; RCV000509509; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; Human Phenotype Ontology:HP:0007105,MedGen:C1856408171059004610590046-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.689C>T (p.Thr230Met)6341SCO1Uncertain significance141066877RCV000350242; RCV000400601; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171059012610590126-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.673G>A (p.Val225Ile)6341SCO1Uncertain significance886052595RCV000314682; RCV000407936; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171059014210590142-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.640G>A (p.Ala214Thr)6341SCO1Uncertain significance145764824RCV000365664; RCV000308760; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171059520410595204-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.594A>G (p.Pro198=)6341SCO1Benign/Likely benign2271228RCV000302841; RCV000268504; RCV000128009; RCV000200257; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171059525010595250-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.521C>T (p.Pro174Leu)6341SCO1Pathogenic104894630RCV000006555; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000171059612210596122OMIM Allelic Variant:603644.0002,UniProtKB (protein):O75880#VAR_012109C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.394G>A (p.Gly132Ser)6341SCO1Pathogenic587777220RCV000106300; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000171059624910596249OMIM Allelic Variant:603644.0003C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.363_364delGA (p.Lys122Valfs)6341SCO1Pathogenic587776629RCV000006554; RCV000727814; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN517202171059905810599059OMIM Allelic Variant:603644.0001C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.304T>G (p.Phe102Val)6341SCO1Uncertain significance539094737RCV000262471; RCV000373676; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171059911810599118-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.297A>G (p.Ala99=)6341SCO1Benign/Likely benign11538237RCV000294348; RCV000320203; RCV000128007; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374171059912510599125-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.273G>A (p.Gly91=)6341SCO1Uncertain significance886052596RCV000288042; RCV000389464; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171060055210600552-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.259C>T (p.Pro87Ser)6341SCO1Uncertain significance757958481RCV000291740; RCV000345452; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171060056610600566-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.224C>T (p.Pro75Leu)6341SCO1Uncertain significance370147170RCV000304787; RCV000399883; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171060060110600601-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.172C>T (p.Pro58Ser)6341SCO1Benign/Likely benign1802083RCV000392206; RCV000353165; RCV000757744; RCV000128010; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171060065310600653UniProtKB (protein):O75880#VAR_014537C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.16C>G (p.Leu6Val)6341SCO1Conflicting interpretations of pathogenicity61753148RCV000273401; RCV000330754; RCV000224328; RCV000128008; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374171060080910600809-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.15C>T (p.Val5=)6341SCO1Uncertain significance780334801RCV000276979; RCV000325345; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171060081010600810-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.5C>A (p.Ala2Glu)6341SCO1not provided147487151RCV000509368; RCV000509368; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; Human Phenotype Ontology:HP:0007105,MedGen:C1856408171060082010600820-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.-49C>T6341SCO1Uncertain significance778522503RCV000290105; RCV000382331; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171060087310600873-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.-52delA6341SCO1Uncertain significance566330071RCV000376612; RCV000341714; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171060087610600876-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.-71G>T6341SCO1Likely benign2520169RCV000359528; RCV000305854; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005171060089510600895-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_005138.2(SCO2):c.763C>A (p.Arg255=)9997SCO2Conflicting interpretations of pathogenicity112793292RCV000380439; RCV000339909; RCV000676287; RCV000128017; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN517202; MedGen:CN169374225096207850962078-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.738G>C (p.Ser246=)9997SCO2Uncertain significance200605042RCV000285975; RCV000336339; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096210350962103-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.276A>G (p.Glu92=)9997SCO2Uncertain significance886057630RCV000307590; RCV000275865; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096256550962565-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.244A>G (p.Lys82Glu)9997SCO2Uncertain significance765425160RCV000362533; RCV000272600; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096259750962597-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.237G>A (p.Arg79=)9997SCO2Conflicting interpretations of pathogenicity150485659RCV000327533; RCV000377551; RCV000427532; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN169374225096260450962604-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.201C>T (p.Phe67=)9997SCO2Conflicting interpretations of pathogenicity61748568RCV000324221; RCV000264422; RCV000416073; RCV000128013; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN517202; MedGen:CN169374225096264050962640-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.162C>T (p.Gly54=)9997SCO2Uncertain significance139545104RCV000378912; RCV000279757; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096267950962679-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.4C>G (p.Leu2Val)9997SCO2Uncertain significance747642461RCV000348680; RCV000293784; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096283750962837-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.-51C>T9997SCO2Uncertain significance886057631RCV000345077; RCV000404799; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096393850963938-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.-83A>G9997SCO2Uncertain significance886057632RCV000265362; RCV000301806; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096397050963970-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.-114G>C9997SCO2Uncertain significance554814235RCV000266519; RCV000360974; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096400150964001-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-14+646G>C9997SCO2Uncertain significance145052206RCV000318947; RCV000263704; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096402950964029-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-14+505G>A9997SCO2Uncertain significance375309432RCV000293110; RCV000387314; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096417050964170-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-36G>A9997SCO2Uncertain significance764142194RCV000380883; RCV000326267; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096469750964697-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-129G>A9997SCO2Uncertain significance886057633RCV000327619; RCV000291157; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096479050964790-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-145T>G9997SCO2Uncertain significance762630777RCV000377624; RCV000283127; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096480650964806-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-178C>T9997SCO2Uncertain significance778306525RCV000407538; RCV000342786; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000225096483950964839-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.-18G>A-1SCO2;TYMPBenign74479613RCV000402865; RCV000313637; RCV000321673; RCV000128011; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN169374225096390550963905-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.-78G>C-1SCO2;TYMPBenign131806RCV000364567; RCV000309935; RCV000376198; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041225096396550963965-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.2(SCO2):c.-135_-132dupCTGC-1SCO2;TYMPLikely benign143413019RCV000353038; RCV000316989; RCV000286473; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041225096401950964022-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001953.4(TYMP):c.*10G>A-1SCO2;TYMPConflicting interpretations of pathogenicity369012029RCV000388646; RCV000334196; RCV000289696; RCV000126208; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN169374225096418950964189-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001953.4(TYMP):c.*3C>T-1SCO2;TYMPConflicting interpretations of pathogenicity372620403RCV000344723; RCV000392548; RCV000126207; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN169374225096419650964196-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-14+470G>A-1SCO2;TYMPUncertain significance377497287RCV000290856; RCV000341121; RCV000676455; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN517202225096420550964205-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001953.4(TYMP):c.1284T>A (p.Gly428=)-1SCO2;TYMPBenign1138404RCV000403230; RCV000360806; RCV000297818; RCV000676458; RCV000126203; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096444650964446-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-14+121C>T-1SCO2;TYMPConflicting interpretations of pathogenicity770533125RCV000355404; RCV000274675; RCV000426297; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN169374225096455450964554-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.1(SCO2):c.-26G>A-1SCO2;TYMPUncertain significance771700483RCV000370522; RCV000329849; RCV000275945; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041225096468750964687-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001953.4(TYMP):c.972C>T (p.Ala324=)-1SCO2;TYMPBenign131804RCV000278985; RCV000338776; RCV000279726; RCV000676461; RCV000118808; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096486250964862-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001953.4(TYMP):c.929-6_929-3del-1SCO2;TYMPConflicting interpretations of pathogenicity201685922RCV000374728; RCV000293978; RCV000404575; RCV000224802; RCV000200098; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096490850964911-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001953.4(TYMP):c.831G>A (p.Leu277=)-1SCO2;TYMPBenign/Likely benign8141558RCV000402916; RCV000348879; RCV000406103; RCV000676462; RCV000126199; NMedGen:CN239235; MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C4551995,OMIM:603041; MedGen:CN517202; MedGen:CN169374225096510250965102-CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_016360.3(TACO1):c.-177C>T51204TACO1Uncertain significance540772284RCV000271637; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176167826661678266-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.-163A>G51204TACO1Uncertain significance752592967RCV000328995; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176167828061678280-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.212G>C (p.Gly71Ala)51204TACO1Uncertain significance886053233RCV000363215; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176167865461678654-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.261C>T (p.Asn87=)51204TACO1Uncertain significance534248303RCV000270979; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176167870361678703-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.297T>G (p.Pro99=)51204TACO1Uncertain significance778960378RCV000323588; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176168191061681910-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.498T>C (p.His166=)51204TACO1Conflicting interpretations of pathogenicity17549732RCV000380570; RCV000677083; RCV000199988; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:CN517202; MedGen:CN169374176168378361683783-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.511A>C (p.Asn171His)51204TACO1Uncertain significance886053234RCV000283651; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176168379661683796-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.515+11G>A51204TACO1Uncertain significance772746935RCV000322280; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176168381161683811-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.765C>G (p.Ser255=)51204TACO1Uncertain significance760058934RCV000374696; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176168523361685233-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.*44G>T51204TACO1Uncertain significance191442785RCV000282582; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176168540661685406-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_016360.3(TACO1):c.*230G>A51204TACO1Uncertain significance886053235RCV000334407; NMedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000176168559261685592-C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000256053 MSeqDR Search EnsemblAPOPT1100apoptogenic 1, mitochondrial [Source:HGNC Symbol;Acc:20492]00012
ENSG00000183513 MSeqDR Search EnsemblCOA5100cytochrome c oxidase assembly factor 5 [Source:HGNC Symbol;Acc:33848]00012
ENSG00000162377 MSeqDR Search EnsemblCOA7100cytochrome c oxidase assembly factor 7 [Source:HGNC Symbol;Acc:25716]00012
ENSG00000006695 MSeqDR Search EnsemblCOX101361cytochrome c oxidase assembly homolog 10 (yeast) [Source:HGNC Symbol;Acc:2260]00012
ENSG00000178449 MSeqDR Search EnsemblCOX14111cytochrome c oxidase assembly homolog 14 (S. cerevisiae) [Source:HGNC Symbol;Acc:28216]00012
ENSG00000203667 MSeqDR Search EnsemblCOX20112COX20 cytochrome C oxidase assembly factor [Source:HGNC Symbol;Acc:26970]00012
ENSG00000126267 MSeqDR Search EnsemblCOX6B1117cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) [Source:HGNC Symbol;Acc:2280]00012
ENSG00000176340 MSeqDR Search EnsemblCOX8A101cytochrome c oxidase subunit VIIIA (ubiquitous) [Source:HGNC Symbol;Acc:2294]00012
ENSG00000118246 MSeqDR Search EnsemblFASTKD21182FAST kinase domains 2 [Source:HGNC Symbol;Acc:29160]00012
ENSG00000198804 MSeqDR Search EnsemblMT-CO1122mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:7419]00012
ENSG00000198712 MSeqDR Search EnsemblMT-CO2146mitochondrially encoded cytochrome c oxidase II [Source:HGNC Symbol;Acc:7421]00012
ENSG00000198938 MSeqDR Search EnsemblMT-CO3134mitochondrially encoded cytochrome c oxidase III [Source:HGNC Symbol;Acc:7422]00012
ENSG00000209082 MSeqDR Search EnsemblMT-TL1120mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490]00012
ENSG00000210135 MSeqDR Search EnsemblMT-TN111mitochondrially encoded tRNA asparagine [Source:HGNC Symbol;Acc:7493]00012
ENSG00000229833 MSeqDR Search EnsemblPET100102PET100 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:40038]00012
ENSG00000133028 MSeqDR Search EnsemblSCO11233SCO1 cytochrome c oxidase assembly protein [Source:HGNC Symbol;Acc:10603]00012
ENSG00000260692 MSeqDR Search EnsemblSURF1100surfeit 1 [Source:HGNC Symbol;Acc:11474]00012
ENSG00000136463 MSeqDR Search EnsemblTACO11011translational activator of mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:24316]00012

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