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Mitochondrial Diseases (D028361)
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Mitochondrial Complex III Deficiency (C565128)

       Child Nodes:



 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:7308
Name:Mitochondrial Complex III Deficiency
Definition:
Alternative IDs:OMIM:124000
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/C565128
Synonyms:MC3DN1 |MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Slim Mappings:Metabolic disease
Reference: MedGen: C565128
MeSH: C565128
OMIM: 124000;
MSeqDR LSDB: 00017;  
Genes: BCS1L;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001427Mitochondrial inheritance
3 HP:0003593Infantile onset
4 HP:0004298Abnormality of the abdominal wall
5 HP:0003256Abnormality of the coagulation cascade
6 HP:0003355Aminoaciduria
7 HP:0001251Ataxia
8 HP:0002299Brittle hair
9 HP:0000518Cataract
NAMDC:  Cataracts
10 HP:0001272Cerebellar atrophy
11 HP:0002059Cerebral atrophy
12 HP:0030151Cholangitis
13 HP:0001396Cholestasis
14 HP:0001410Decreased liver function
15 HP:0006558Decreased mitochondrial complex III activity in liver tissue
16 HP:0000716Depression
NAMDC:  Depression
17 HP:0002353EEG abnormality
18 HP:0002910Elevated hepatic transaminases
19 HP:0000712Emotional lability
20 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
21 HP:0001508Failure to thrive
22 HP:0008872Feeding difficulties in infancy
23 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
24 HP:0001263Global developmental delay
NAMDC:  Mental retardation
25 HP:0000738Hallucinations
26 HP:0000365Hearing impairmentrare
27 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
28 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
29 HP:0001943Hypoglycemia
30 HP:0002151Increased serum lactate
31 HP:0001249Intellectual disability
32 HP:0003128Lactic acidosis
33 HP:0001942Metabolic acidosis
34 HP:0001414Microvesicular hepatic steatosis
35 HP:0006789Mitochondrial encephalopathy
36 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
37 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
38 HP:0003200Ragged-red muscle fibers
39 HP:0003201Rhabdomyolysis
NAMDC:  Rhabdomyolysis
40 HP:0000510Rod-cone dystrophy
41 HP:0001250Seizures
NAMDC:  Seizures
42 HP:0001257Spasticity
NAMDC:  Spasticity
43 HP:0001970Tubulointerstitial nephritis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004328.4(BCS1L):c.-262G>T617BCS1LUncertain significance886055624RCV000260413; RCV000355262; RCV000315836; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:1240002219524463219524463-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-127T>C617BCS1LUncertain significance886055625RCV000275953; RCV000389070; RCV000330985; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:1240002219524891219524891-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-94T>G617BCS1LUncertain significance188224298RCV000346257; RCV000385604; RCV000291289; RCV000676998; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN5172022219524924219524924-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-43G>A617BCS1LConflicting interpretations of pathogenicity145989550RCV000382259; RCV000289306; RCV000341934; RCV000198605; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN1693742219525668219525668-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-14G>A617BCS1LConflicting interpretations of pathogenicity367721351RCV000340599; RCV000395551; RCV000302189; RCV000605569; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN1693742219525697219525697-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.112C>G (p.Leu38Val)617BCS1LUncertain significance886055626RCV000402322; RCV000300923; RCV000353398; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:1240002219525822219525822-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.133C>T (p.Arg45Cys)617BCS1LPathogenic121908575RCV000006543; NMedGen:C3541471,OMIM:1240002219525843219525843OMIM Allelic Variant:603647.0006,UniProtKB (protein):Q9Y276#VAR_032087C1852372 124000 Mitochondrial complex III deficiency;
NM_004328.4(BCS1L):c.148A>G (p.Thr50Ala)617BCS1LPathogenic121908580RCV000006549; NMedGen:C3541471,OMIM:1240002219525858219525858OMIM Allelic Variant:603647.0011,UniProtKB (protein):Q9Y276#VAR_064615C1852372 124000 Mitochondrial complex III deficiency;
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter)617BCS1LPathogenic/Likely pathogenic121908576RCV000260660; RCV000576565; RCV000763069; RCV000763069; RCV000006544; RCV000763069; RCV000763069; RCV000195481; NMedGen:CN239240; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:C3541471,OMIM:124000; MedGen:C0266006,OMIM2219525876219525876OMIM Allelic Variant:603647.0007CN239240 BCS1L-Related Disorders;
NM_004328.4(BCS1L):c.201C>T (p.Leu67=)617BCS1LUncertain significance142540289RCV000313563; RCV000273790; RCV000370613; RCV000376147; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN5172022219525911219525911-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys)617BCS1LConflicting interpretations of pathogenicity377025174RCV000675122; RCV000623904; RCV000415034; RCV000197059; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MeSH:D030342,MedGen:C0950123; MedGen:C3541471,OMIM:124000; MedGen:CN5172022219525915219525915-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.217C>T (p.Arg73Cys)617BCS1LUncertain significance140812286RCV000670706; RCV000778591; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C3541471,OMIM:1240002219525927219525927-C1864002 603358 GRACILE syndrome;
NM_001257342.1(BCS1L):c.232A>G (p.Ser78Gly)617BCS1LPathogenic28937590RCV000006542; RCV000763070; RCV000763070; RCV000763070; RCV000763070; RCV000519547; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:C0266006,OMIM:262000, Orphanet:ORPHA123,SNOMED CT:678170032219525942219525942OMIM Allelic Variant:603647.0005,UniProtKB (protein):Q9Y276#VAR_018149C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.258T>C (p.His86=)617BCS1LUncertain significance886055627RCV000330882; RCV000272188; RCV000364504; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:1240002219525968219525968-C1864002 603358 GRACILE syndrome;
NM_001079866.1(BCS1L):c.268C>T (p.Arg90Cys)617BCS1LUncertain significance-1RCV000778592; NMedGen:C3541471,OMIM:1240002219525978219525978-
NM_004328.4(BCS1L):c.321-12G>A617BCS1LUncertain significance776363896RCV000382055; RCV000285241; RCV000324948; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:1240002219526117219526117-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.464G>C (p.Arg155Pro)617BCS1LPathogenic121908573RCV000006540; NMedGen:C3541471,OMIM:1240002219526485219526485OMIM Allelic Variant:603647.0003,UniProtKB (protein):Q9Y276#VAR_018161C1852372 124000 Mitochondrial complex III deficiency;
NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys)617BCS1LConflicting interpretations of pathogenicity144885874RCV000674245; RCV000006550; RCV000521027; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C3541471,OMIM:124000; MedGen:CN5172022219526568219526568OMIM Allelic Variant:603647.0012,UniProtKB (protein):Q9Y276#VAR_064617C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys)617BCS1LConflicting interpretations of pathogenicity121908578RCV000006546; RCV000034811; RCV000384654; NMedGen:C4016851; MedGen:C3541471,OMIM:124000; MedGen:CN5172022219526571219526571OMIM Allelic Variant:603647.0009,UniProtKB (protein):Q9Y276#VAR_032090C4016851 Bjornstad syndrome with mild mitochondrial complex III deficiency;
NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter)617BCS1LPathogenic/Likely pathogenic776838028RCV000671925; RCV000415338; RCV000497971; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C3541471,OMIM:124000; MedGen:CN5172022219526619219526619-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn)617BCS1LBenign/Likely benign58447305RCV000324040; RCV000281286; RCV000376268; RCV000677000; RCV000123832; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN1693742219526649219526649-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.768C>G (p.Leu256=)617BCS1LUncertain significance781666793RCV000394839; RCV000338686; RCV000279975; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:1240002219527281219527281-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.822G>A (p.Pro274=)617BCS1LConflicting interpretations of pathogenicity112329020RCV000401551; RCV000311482; RCV000351273; RCV000426045; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN1693742219527335219527335-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.830G>A (p.Ser277Asn)617BCS1LPathogenic121908571RCV000006538; NMedGen:C3541471,OMIM:1240002219527343219527343OMIM Allelic Variant:603647.0001,UniProtKB (protein):Q9Y276#VAR_018162C1852372 124000 Mitochondrial complex III deficiency;
NM_004328.4(BCS1L):c.996C>T (p.Asn332=)617BCS1LBenign/Likely benign33946522RCV000401829; RCV000310745; RCV000363248; RCV000677001; RCV000123833; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN1693742219527712219527712-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1017T>C (p.Pro339=)617BCS1LBenign/Likely benign35843327RCV000323471; RCV000361877; RCV000270977; RCV000677002; RCV000123835; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN1693742219527866219527866-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1057G>A (p.Val353Met)617BCS1LPathogenic121908574RCV000006541; NMedGen:C3541471,OMIM:1240002219527906219527906OMIM Allelic Variant:603647.0004,UniProtKB (protein):Q9Y276#VAR_018164C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-452G>A54902TTC19Uncertain significance61747574RCV000327365; NMedGen:C3541471,OMIM:124000171590271115902711-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-444T>C54902TTC19Uncertain significance886052624RCV000386518; NMedGen:C3541471,OMIM:124000171590271915902719-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-347C>A54902TTC19Benign/Likely benign60636875RCV000292135; RCV000173455; NMedGen:C3541471,OMIM:124000; MedGen:CN169374171590281615902816-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-340G>C54902TTC19Conflicting interpretations of pathogenicity200004394RCV000351760; RCV000125730; NMedGen:C3541471,OMIM:124000; MedGen:CN169374171590282315902823-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-328C>T54902TTC19Uncertain significance544159811RCV000394704; NMedGen:C3541471,OMIM:124000171590283515902835-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-190C>T54902TTC19Uncertain significance199843558RCV000279385; NMedGen:C3541471,OMIM:124000171590297315902973-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-178C>T54902TTC19Conflicting interpretations of pathogenicity753100200RCV000334549; RCV000432480; NMedGen:C3541471,OMIM:124000; MedGen:CN169374171590298515902985-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-169C>G54902TTC19Benign/Likely benign73276077RCV000394700; RCV000173456; NMedGen:C3541471,OMIM:124000; MedGen:CN169374171590299415902994-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-141G>A54902TTC19Uncertain significance886052625RCV000299506; NMedGen:C3541471,OMIM:124000171590302215903022-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-107A>T54902TTC19Conflicting interpretations of pathogenicity79724115RCV000359020; RCV000125732; NMedGen:C3541471,OMIM:124000; MedGen:CN169374171590305615903056-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-83C>T54902TTC19Uncertain significance368411974RCV000390300; NMedGen:C3541471,OMIM:124000171590308015903080-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-73G>A54902TTC19Uncertain significance149555498RCV000305832; RCV000328517; NMedGen:C3541471,OMIM:124000; MedGen:CN517202171590309015903090-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.-15G>A54902TTC19Benign/Likely benign73276080RCV000360489; RCV000173457; NMedGen:C3541471,OMIM:124000; MedGen:CN169374171590314815903148-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.25C>T (p.Leu9=)54902TTC19Uncertain significance568088809RCV000270549; NMedGen:C3541471,OMIM:124000171590318715903187-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.146C>T (p.Pro49Leu)54902TTC19Conflicting interpretations of pathogenicity537063695RCV000325478; RCV000676981; RCV000440126; NMedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN169374171590330815903308-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.155G>A (p.Arg52Gln)54902TTC19Uncertain significance886052626RCV000366218; NMedGen:C3541471,OMIM:124000171590331715903317-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.270C>G (p.Asp90Glu)54902TTC19Uncertain significance757875189RCV000274987; NMedGen:C3541471,OMIM:124000171590351715903517-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.364G>A (p.Ala122Thr)54902TTC19Uncertain significance377441281RCV000330052; NMedGen:C3541471,OMIM:124000171590528015905280-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.421T>G (p.Leu141Val)54902TTC19Uncertain significance755530528RCV000389338; NMedGen:C3541471,OMIM:124000171590533715905337-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.439T>C (p.Phe147Leu)54902TTC19Uncertain significance765464563RCV000295050; NMedGen:C3541471,OMIM:124000171590612215906122-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.573G>A (p.Ala191=)54902TTC19Benign/Likely benign58517927RCV000317077; RCV000676982; RCV000125728; NMedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN169374171590756815907568-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.612C>G (p.Phe204Leu)54902TTC19Uncertain significance544027755RCV000371738; NMedGen:C3541471,OMIM:124000171590981815909818-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.758C>T (p.Pro253Leu)54902TTC19Conflicting interpretations of pathogenicity78882347RCV000282051; RCV000425011; NMedGen:C3541471,OMIM:124000; MedGen:CN169374171592841215928412-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.781G>A (p.Glu261Lys)54902TTC19Uncertain significance755952117RCV000337047; NMedGen:C3541471,OMIM:124000171592843515928435-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.994+3A>T54902TTC19Uncertain significance189614332RCV000377299; NMedGen:C3541471,OMIM:124000171593001915930019-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.1041A>G (p.Gln347=)54902TTC19Conflicting interpretations of pathogenicity77955179RCV000282832; RCV000125727; NMedGen:C3541471,OMIM:124000; MedGen:CN169374171593073415930734-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.1056_1058delAGA (p.Lys352_Asp353delinsAsn)54902TTC19Uncertain significance755549162RCV000342417; NMedGen:C3541471,OMIM:124000171593074915930751-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*27G>A54902TTC19Uncertain significance150843177RCV000396546; NMedGen:C3541471,OMIM:124000171593086315930863-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*46T>C54902TTC19Likely benign3744328RCV000307629; NMedGen:C3541471,OMIM:124000171593088215930882-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*297G>A54902TTC19Uncertain significance886052628RCV000343739; NMedGen:C3541471,OMIM:124000171593113315931133-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*301G>A54902TTC19Uncertain significance116946711RCV000398238; NMedGen:C3541471,OMIM:124000171593113715931137-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*335C>T54902TTC19Uncertain significance117087989RCV000308810; NMedGen:C3541471,OMIM:124000171593117115931171-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*437delC54902TTC19Uncertain significance886052629RCV000368832; NMedGen:C3541471,OMIM:124000171593127315931273-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*578C>T54902TTC19Uncertain significance188915420RCV000274145; NMedGen:C3541471,OMIM:124000171593141415931414-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*600G>A54902TTC19Likely benign73981413RCV000315175; NMedGen:C3541471,OMIM:124000171593143615931436-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*670dupT54902TTC19Uncertain significance764835326RCV000369835; NMedGen:C3541471,OMIM:124000171593150615931506-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*676C>T54902TTC19Uncertain significance886052631RCV000261054; NMedGen:C3541471,OMIM:124000171593151215931512-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*709T>A54902TTC19Likely benign11554356RCV000316310; NMedGen:C3541471,OMIM:124000171593154515931545-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*746C>G54902TTC19Uncertain significance143866104RCV000375460; NMedGen:C3541471,OMIM:124000171593158215931582-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*753A>G54902TTC19Uncertain significance886052632RCV000262226; NMedGen:C3541471,OMIM:124000171593158915931589-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*857G>A54902TTC19Likely benign72821769RCV000322473; NMedGen:C3541471,OMIM:124000171593169315931693-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*971G>A54902TTC19Likely benign73981414RCV000377059; NMedGen:C3541471,OMIM:124000171593180715931807-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1008G>A54902TTC19Uncertain significance886052633RCV000287348; NMedGen:C3541471,OMIM:124000171593184415931844-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1099C>T54902TTC19Uncertain significance886052634RCV000342353; NMedGen:C3541471,OMIM:124000171593193515931935-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1194T>A54902TTC19Uncertain significance116722822RCV000382710; NMedGen:C3541471,OMIM:124000171593203015932030-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1236_*1237dupTT54902TTC19Likely benign61349729RCV000288534; NMedGen:C3541471,OMIM:124000171593207215932073-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1296_*1298dupCAA54902TTC19Uncertain significance886052636RCV000348132; NMedGen:C3541471,OMIM:124000171593213215932134-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1317_*1324dupAAAAAAAA54902TTC19Uncertain significance59177775RCV000397075; NMedGen:C3541471,OMIM:124000171593215315932160-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1318A>C54902TTC19Uncertain significance886052638RCV000299403; NMedGen:C3541471,OMIM:124000171593215415932154-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1320_*1324dupAAAAA54902TTC19Uncertain significance59177775RCV000351859; NMedGen:C3541471,OMIM:124000171593215615932160-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1320A>C54902TTC19Uncertain significance886052639RCV000358933; NMedGen:C3541471,OMIM:124000171593215615932156-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1321_*1324dupAAAA54902TTC19Uncertain significance59177775RCV000353075; NMedGen:C3541471,OMIM:124000171593215715932160-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1321A>C54902TTC19Uncertain significance886052640RCV000266011; NMedGen:C3541471,OMIM:124000171593215715932157-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1323_*1324dupAA54902TTC19Uncertain significance59177775RCV000310992; NMedGen:C3541471,OMIM:124000171593215915932160-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1324dupA54902TTC19Uncertain significance59177775RCV000262936; NMedGen:C3541471,OMIM:124000171593216015932160-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1324delA54902TTC19Uncertain significance59177775RCV000298106; NMedGen:C3541471,OMIM:124000171593216015932160-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1325delCinsAAAAAAAAAA54902TTC19Uncertain significance886052641RCV000323353; NMedGen:C3541471,OMIM:124000171593216115932161-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1543A>G54902TTC19Uncertain significance118174899RCV000380277; NMedGen:C3541471,OMIM:124000171593237915932379-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1562A>G54902TTC19Uncertain significance749875042RCV000269444; NMedGen:C3541471,OMIM:124000171593239815932398-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1738T>C54902TTC19Uncertain significance111241994RCV000326727; NMedGen:C3541471,OMIM:124000171593257415932574-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1791T>C54902TTC19Likely benign9890012RCV000383682; NMedGen:C3541471,OMIM:124000171593262715932627-C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.3(TTC19):c.*1886T>C54902TTC19Uncertain significance189970612RCV000291680; NMedGen:C3541471,OMIM:124000171593272215932722-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.-31delG27089UQCRQUncertain significance886059916RCV000266419; NMedGen:C3541471,OMIM:1240005132202362132202362-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.-18G>C27089UQCRQUncertain significance527907338RCV000323740; NMedGen:C3541471,OMIM:1240005132202375132202375-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.45C>T (p.Ile15=)27089UQCRQUncertain significance150139635RCV000376090; NMedGen:C3541471,OMIM:1240005132202618132202618-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.108C>G (p.Pro36=)27089UQCRQConflicting interpretations of pathogenicity36093416RCV000284095; RCV000677089; RCV000126225; NMedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN1693745132202681132202681-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*18C>T27089UQCRQConflicting interpretations of pathogenicity768723651RCV000346050; RCV000418871; NMedGen:C3541471,OMIM:124000; MedGen:CN1693745132203292132203292-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*19G>T27089UQCRQUncertain significance774125650RCV000384412; NMedGen:C3541471,OMIM:1240005132203293132203293-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*236C>T27089UQCRQUncertain significance116229809RCV000345627; NMedGen:C3541471,OMIM:1240005132203510132203510-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*236C>G27089UQCRQUncertain significance116229809RCV000287683; NMedGen:C3541471,OMIM:1240005132203510132203510-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*249A>G27089UQCRQUncertain significance572786790RCV000391132; NMedGen:C3541471,OMIM:1240005132203523132203523-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*332G>A27089UQCRQUncertain significance182167836RCV000315188; NMedGen:C3541471,OMIM:1240005132203606132203606-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*334C>T27089UQCRQLikely benign4415070RCV000348971; NMedGen:C3541471,OMIM:1240005132203608132203608-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*364C>T27089UQCRQUncertain significance186810817RCV000404082; NMedGen:C3541471,OMIM:1240005132203638132203638-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*545A>C27089UQCRQUncertain significance886059917RCV000299906; NMedGen:C3541471,OMIM:1240005132203819132203819-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*644C>T27089UQCRQLikely benign144996711RCV000356950; NMedGen:C3541471,OMIM:1240005132203918132203918-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*658A>C27089UQCRQUncertain significance188040859RCV000405464; NMedGen:C3541471,OMIM:1240005132203932132203932-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*678G>A27089UQCRQLikely benign55767930RCV000299098; NMedGen:C3541471,OMIM:1240005132203952132203952-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*723A>G27089UQCRQLikely benign17166297RCV000360846; NMedGen:C3541471,OMIM:1240005132203997132203997-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*756C>T27089UQCRQUncertain significance757790355RCV000268573; NMedGen:C3541471,OMIM:1240005132204030132204030-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*757G>A27089UQCRQLikely benign17624157RCV000321398; NMedGen:C3541471,OMIM:1240005132204031132204031-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*970A>C27089UQCRQUncertain significance185184076RCV000359534; NMedGen:C3541471,OMIM:1240005132204244132204244-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*971C>A27089UQCRQUncertain significance879668666RCV000272116; NMedGen:C3541471,OMIM:1240005132204245132204245-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*979G>A27089UQCRQUncertain significance536513933RCV000329472; NMedGen:C3541471,OMIM:1240005132204253132204253-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*1026C>G27089UQCRQUncertain significance749663767RCV000381714; NMedGen:C3541471,OMIM:1240005132204300132204300-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*1058A>G27089UQCRQUncertain significance886059918RCV000294580; NMedGen:C3541471,OMIM:1240005132204332132204332-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*1078T>A27089UQCRQUncertain significance149048464RCV000333224; NMedGen:C3541471,OMIM:1240005132204352132204352-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*1086A>C27089UQCRQUncertain significance886059919RCV000385307; NMedGen:C3541471,OMIM:1240005132204360132204360-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*1175delG27089UQCRQLikely benign67367845RCV000293411; NMedGen:C3541471,OMIM:1240005132204449132204449-C1852372 124000 Mitochondrial complex III deficiency;
NM_014402.4(UQCRQ):c.*1204G>A27089UQCRQUncertain significance116236652RCV000336795; NMedGen:C3541471,OMIM:1240005132204478132204478-C1852372 124000 Mitochondrial complex III deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000074582 MSeqDR Search EnsemblBCS1L1827BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]00017
ENSG00000156467 MSeqDR Search EnsemblUQCRB100ubiquinol-cytochrome c reductase binding protein [Source:HGNC Symbol;Acc:12582]00017

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