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
Term ID:6278
Name:Leigh Disease
Definition:A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Alternative IDs:OMIM:256000
ParentIDs:MESH:D015323|MESH:D020739|MESH:D028361
TreeNumbers:C10.228.140.163.100.412 |C16.320.565.189.412 |C16.320.565.202.810.444 |C18.452.132.100.412 |C18.452.648.189.412 |C18.452.648.202.810.444 |C18.452.660.520
Synonyms:Disease, Leigh's |Encephalomyelitides, Subacute Necrotizing |Encephalomyelitis, Subacute Necrotizing |Encephalomyelopathies, Subacute Necrotizing |Encephalomyelopathy, Subacute Necrotizing |Encephalopathies, Subacute Necrotizing |Encephalopathy, Subacute Necro
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D007888
MeSH: D007888
OMIM: 256000;
MSeqDR LSDB: 00015;
MSeqDR has 3 matches in descendants: 00389; 00390; 00433;  
Genes: BCS1L; COX10; COX15; FOXRED1; NDUFA10; NDUFA12; NDUFA2; NDUFA9; NDUFAF2; NDUFAF6; NDUFS3; NDUFS4; NDUFS7; NDUFS8; SDHA; SURF1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001427Mitochondrial inheritance
3 HP:0003593Infantile onset
4 HP:0002793Abnormal pattern of respiration
5 HP:0100022Abnormality of movementhallmark
6 HP:0001251Ataxia
7 HP:0007305CNS demyelination
8 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
hallmark
9 HP:0001260Dysarthria
NAMDC:  Dysarthria
10 HP:0001332Dystonia
NAMDC:  Dystonia
11 HP:0000712Emotional lability
12 HP:0001508Failure to thrive
13 HP:0002171Gliosis
14 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
15 HP:0001263Global developmental delay
NAMDC:  Mental retardation
16 HP:0001404Hepatocellular necrosis
17 HP:0001425Heterogeneous
18 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
19 HP:0000998Hypertrichosis
20 HP:0002311Incoordinationhallmark
21 HP:0002490Increased CSF lactate
22 HP:0002151Increased serum lactate
23 HP:0001249Intellectual disability
24 HP:0003128Lactic acidosis
25 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
hallmark
26 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
27 HP:0000639Nystagmushallmark
28 HP:0000639Nystagmus
29 HP:0000597Ophthalmoparesis
NAMDC:  Ophthalmoparesis
typical
30 HP:0000602Ophthalmoplegia
31 HP:0000648Optic atrophy
32 HP:0000648Optic atrophytypical
33 HP:0003812Phenotypic variability
34 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
35 HP:0003676Progressive
36 HP:0000508Ptosis
NAMDC:  Ptosis
37 HP:0002878Respiratory failure
38 HP:0002093Respiratory insufficiencyhallmark
39 HP:0001250Seizures
NAMDC:  Seizures
40 HP:0001250Seizures
NAMDC:  Seizures
typical
41 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
42 HP:0001257Spasticity
NAMDC:  Spasticity
43 HP:0000486Strabismus
44 HP:0000486Strabismushallmark
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.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_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_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.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.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_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.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.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.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_001320974.1(COX15):c.532C>T (p.Arg178Cys)1355COX15Likely pathogenic192078749RCV000625907; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000510101486775101486775-C0023264 256000 Leigh syndrome;
NM_004376.6(COX15):c.452C>G (p.Ser151Ter)1355COX15Conflicting interpretations of pathogenicity149718203RCV000586150; RCV000033254; RCV000599531; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1850599; MedGen:CN51720210101486855101486855OMIM Allelic Variant:603646.0003C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.-8G>T1738DLDUncertain significance372155330RCV000367380; RCV000405448; RCV000309229; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107531688107531688-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.34G>A (p.Ala12Thr)1738DLDConflicting interpretations of pathogenicity75077312RCV000269642; RCV000363950; RCV000324743; RCV000676797; RCV000124698; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN1693747107531729107531729-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.74A>C (p.Gln25Pro)1738DLDUncertain significance61749951RCV000266066; RCV000321362; RCV000360727; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107533679107533679-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.100A>G (p.Thr34Ala)1738DLDUncertain significance138002793RCV000281549; RCV000376021; RCV000317845; RCV000487629; RCV000367820; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN1693747107533705107533705-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.116C>T (p.Pro39Leu)1738DLDUncertain significance766396602RCV000371459; RCV000295703; RCV000350667; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107533721107533721-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.117G>A (p.Pro39=)1738DLDUncertain significance751621846RCV000386565; RCV000293134; RCV000348029; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107533722107533722-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.249T>C (p.Val83=)1738DLDConflicting interpretations of pathogenicity2228664RCV000344385; RCV000308340; RCV000653831; RCV000393062; RCV000676798; RCV000124687; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:CN043137,OMIM:246900; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN16937107542820107542820-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.267+15delT1738DLDUncertain significance886061906RCV000304750; RCV000359444; RCV000393088; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107542853107542853-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.439-7T>C1738DLDBenign/Likely benign10263341RCV000355848; RCV000301000; RCV000611867; RCV000264516; RCV000676799; RCV000179713; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:CN043137,OMIM:246900; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN16937107545799107545799-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.543A>T (p.Ile181=)1738DLDConflicting interpretations of pathogenicity61749952RCV000261104; RCV000333518; RCV000653830; RCV000388010; RCV000676800; RCV000179714; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:CN043137,OMIM:246900; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN16937107545910107545910-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.677T>C (p.Val226Ala)1738DLDUncertain significance750449027RCV000329949; RCV000384659; RCV000274781; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107546806107546806-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.684+7G>A1738DLDBenign/Likely benign75123588RCV000345292; RCV000381208; RCV000290221; RCV000676801; RCV000124691; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN1693747107546820107546820-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.685-14T>A1738DLDBenign/Likely benign80111449RCV000341290; RCV000408393; RCV000286283; RCV000124692; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN1693747107555937107555937-C0023264 256000 Leigh syndrome;
NM_000108.3(DLD):c.763A>C (p.Met255Leu)1738DLDUncertain significance533405046RCV000408335; RCV000338182; RCV000298315; RCV000185855; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN5172027107556029107556029-
NM_000108.4(DLD):c.860G>A (p.Gly287Glu)1738DLDUncertain significance202125745RCV000313980; RCV000277653; RCV000353225; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107556126107556126-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1228A>C (p.Lys410Gln)1738DLDUncertain significance886061907RCV000274169; RCV000368770; RCV000329018; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107557899107557899-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1351C>T (p.Leu451=)1738DLDBenign/Likely benign1803921RCV000270612; RCV000325649; RCV000383620; RCV000676804; RCV000124695; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN1693747107558483107558483-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1465-7C>G1738DLDUncertain significance886061908RCV000286136; RCV000380507; RCV000322294; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107559632107559632-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1503G>A (p.Ala501=)1738DLDUncertain significance766286119RCV000282664; RCV000376969; RCV000337641; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107559677107559677-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*18A>T1738DLDBenign8721RCV000279168; RCV000400340; RCV000616747; RCV000350587; RCV000590748; RCV000124697; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:CN043137,OMIM:246900; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN16937107559722107559722-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*28G>T1738DLDBenign17154615RCV000313165; RCV000365418; RCV000392922; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107559732107559732-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*167T>C1738DLDUncertain significance886061909RCV000307241; RCV000364131; RCV000404165; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107559871107559871-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*207G>A1738DLDBenign4564RCV000358247; RCV000267242; RCV000324559; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107559911107559911-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*225C>T1738DLDUncertain significance553824101RCV000318777; RCV000265942; RCV000375475; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107559929107559929-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*355A>G1738DLDUncertain significance886061910RCV000278861; RCV000317557; RCV000388349; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560059107560059-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*470G>A1738DLDUncertain significance111619940RCV000348657; RCV000401807; RCV000296036; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560174107560174-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*487C>T1738DLDBenign4518RCV000393003; RCV000347564; RCV000290158; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560191107560191-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*498T>G1738DLDUncertain significance886061911RCV000360355; RCV000392998; RCV000307920; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560202107560202-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*648G>A1738DLDUncertain significance57801571RCV000359139; RCV000262043; RCV000302064; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560352107560352-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*855C>T1738DLDLikely benign116055514RCV000353302; RCV000260770; RCV000319444; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560559107560559-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*947G>T1738DLDLikely benign7777259RCV000332301; RCV000275277; RCV000386065; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560651107560651-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*978T>C1738DLDBenign2158835RCV000328083; RCV000288290; RCV000384986; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560682107560682-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1088A>G1738DLDUncertain significance886061912RCV000345560; RCV000287023; RCV000379115; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560792107560792-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1092C>T1738DLDUncertain significance546777301RCV000339878; RCV000300180; RCV000399965; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107560796107560796-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1307C>T1738DLDUncertain significance568807016RCV000338714; RCV000408008; RCV000299103; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107561011107561011-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1451T>C1738DLDBenign2108223RCV000370203; RCV000312034; RCV000276849; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107561155107561155-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1688G>A1738DLDLikely benign8440RCV000329448; RCV000272023; RCV000369006; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107561392107561392-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1724C>G1738DLDUncertain significance886061913RCV000270720; RCV000381646; RCV000323562; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107561428107561428-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1736T>C1738DLDUncertain significance190655078RCV000380454; RCV000283475; RCV000340859; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107561440107561440-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1791_*1794delTTTA1738DLDUncertain significance760145994RCV000282155; RCV000374539; RCV000335124; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107561495107561498-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1857A>C1738DLDUncertain significance774099916RCV000352477; RCV000313976; RCV000398521; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107561561107561561-C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1877A>G1738DLDUncertain significance182010485RCV000366005; RCV000308860; RCV000391649; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:466830077107561581107561581-C0023264 256000 Leigh syndrome;
NM_002291.2(LAMB1):c.5225-7C>T-1DLD;LAMB1Benign3213673RCV000363636; RCV000276408; RCV000325321; RCV000423681; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN1693747107564539107564539-C0023264 256000 Leigh syndrome;
NM_004092.3(ECHS1):c.5C>T (p.Ala2Val)1892ECHS1Pathogenic587776498RCV000144497; RCV000167582; RCV000481050; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C4225391,OMIM:616277; MedGen:CN51720210135186833135186833OMIM Allelic Variant:602292.0004,UniProtKB (protein):P30084#VAR_073373C0023264 256000 Leigh syndrome;
NM_004092.3(ECHS1):c.2T>G (p.Met1Arg)1892ECHS1Pathogenic/Likely pathogenic587776497RCV000144496; RCV000167581; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C4225391,OMIM:61627710135186836135186836OMIM Allelic Variant:602292.0003C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-97A>G-1ERCC8;NDUFAF2Benign158922RCV000337453; RCV000297972; RCV000401969; NMedGen:C0009207, Orphanet:ORPHA191,SNOMED CT:21086008; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956024098660240986-C0009207 Cockayne syndrome;
NM_174889.4(NDUFAF2):c.-91C>T-1ERCC8;NDUFAF2Benign/Likely benign4647036RCV000373301; RCV000355199; RCV000262719; NMedGen:C0009207, Orphanet:ORPHA191,SNOMED CT:21086008; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956024099260240992-C0009207 Cockayne syndrome;
NM_174889.4(NDUFAF2):c.18T>G (p.Asp6Glu)-1ERCC8;NDUFAF2Uncertain significance886060726RCV000668467; RCV000383048; RCV000326140; NMedGen:C0751039,OMIM:216400, Orphanet:ORPHA90321; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956024110060241100-C0751039 216400 Cockayne syndrome type A;
NM_174889.4(NDUFAF2):c.60G>A (p.Lys20=)-1ERCC8;NDUFAF2Benign158921RCV000278856; RCV000348449; RCV000290995; RCV000676954; RCV000117705; NMedGen:C0009207, Orphanet:ORPHA191,SNOMED CT:21086008; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN16937456024114260241142-C0009207 Cockayne syndrome;
NM_017547.3(FOXRED1):c.568C>T (p.Pro190Ser)55572FOXRED1Uncertain significance1555065162RCV000662160; RCV000662159; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260911126144853126144853-C0023264 256000 Leigh syndrome;
NM_017547.3(FOXRED1):c.612_615dupAGTG (p.Ala206Serfs)55572FOXRED1Pathogenic/Likely pathogenic398124308RCV000586362; RCV000190588; RCV000081797; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN51720211126144897126144900HGMD:CI120093C0023264 256000 Leigh syndrome;
NM_017547.3(FOXRED1):c.754C>T (p.Arg252Cys)55572FOXRED1Uncertain significance146661281RCV000763713; RCV000763713; RCV000514034; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN51720211126145709126145709-CN517202 not provided;
NM_017547.3(FOXRED1):c.1171T>G (p.Leu391Val)55572FOXRED1Uncertain significance138061928RCV000763714; RCV000763714; RCV000199891; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN51720211126147035126147035-CN169374 not specified;
NM_024407.4(NDUFS7):c.*13C>A-1GAMT;NDUFS7Benign/Likely benign11551663RCV000335492; RCV000390875; RCV000345055; RCV000127159; NMedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693741913955001395500-C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.*311C>G-1GAMT;NDUFS7Likely benign266811RCV000314996; RCV000282642; RCV000374817; NMedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913970471397047-C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.*276C>T-1GAMT;NDUFS7Likely benign266810RCV000369560; RCV000397956; RCV000340079; NMedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913970821397082-C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.*151T>C-1GAMT;NDUFS7Likely benign659460RCV000390864; RCV000343350; RCV000304781; NMedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913972071397207-C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.*146A>C-1GAMT;NDUFS7Benign/Likely benign659455RCV000310942; RCV000399238; RCV000308431; NMedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913972121397212-C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.626C>T (p.Thr209Met)-1GAMT;NDUFS7Benign/Likely benign17851582RCV000020144; RCV000715403; RCV000272863; RCV000311501; RCV000676877; RCV000117117; NMedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C2711754; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693741913974431397443UniProtKB (protein):Q14353#VAR_025723C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.571-6G>A-1GAMT;NDUFS7Benign/Likely benign2074899RCV000261636; RCV000276453; RCV000368554; RCV000676878; RCV000117116; NMedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693741913975041397504-C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x18908GYG2not provided-1RCV000509460; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005X27460252799731-C0023264 256000 Leigh syndrome;
NM_018060.3(IARS2):c.1821G>A (p.Trp607Ter)55699IARS2Conflicting interpretations of pathogenicity373436822RCV000144716; RCV000144955; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172021220300169220300169OMIM Allelic Variant:612801.0002C0023264 256000 Leigh syndrome;
NM_018060.3(IARS2):c.2122G>A (p.Glu708Lys)55699IARS2Likely benign143722284RCV000144717; RCV000144956; RCV000601238; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN1693741220311332220311332OMIM Allelic Variant:612801.0003,UniProtKB (protein):Q9NSE4#VAR_072590C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2376C>G10128LRPPRCUncertain significance886056040RCV000367651; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411336344113363-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2277A>G10128LRPPRCUncertain significance886056041RCV000396240; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411346244113462-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2245A>G10128LRPPRCUncertain significance758080975RCV000314407; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411349444113494-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2176A>T10128LRPPRCLikely benign73924082RCV000371259; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411356344113563-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2099C>A10128LRPPRCUncertain significance771863074RCV000269765; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411364044113640-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2048dupG10128LRPPRCUncertain significance546907287RCV000308061; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411369144113691-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2041C>A10128LRPPRCUncertain significance7581308RCV000272856; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411369844113698-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2041C>T10128LRPPRCUncertain significance7581308RCV000364997; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411369844113698-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1981A>T10128LRPPRCUncertain significance180886841RCV000320972; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411375844113758-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1961T>C10128LRPPRCUncertain significance541683193RCV000377959; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411377844113778-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1911G>A10128LRPPRCUncertain significance533572540RCV000267268; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411382844113828-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1895G>T10128LRPPRCUncertain significance886056042RCV000324711; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411384444113844-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1872C>T10128LRPPRCUncertain significance147686285RCV000372295; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411386744113867-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1816T>C10128LRPPRCUncertain significance886056043RCV000279438; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411392344113923-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1806A>C10128LRPPRCUncertain significance886056044RCV000336871; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411393344113933-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1665C>T10128LRPPRCBenign1139250RCV000375009; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411407444114074-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1665C>G10128LRPPRCUncertain significance1139250RCV000292352; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411407444114074-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1653G>T10128LRPPRCUncertain significance886056045RCV000349460; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411408644114086-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1653G>A10128LRPPRCUncertain significance886056045RCV000403972; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411408644114086-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1587C>T10128LRPPRCUncertain significance886056046RCV000314499; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411415244114152-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1584G>A10128LRPPRCUncertain significance372330583RCV000343702; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411415544114155-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1564G>A10128LRPPRCUncertain significance142436911RCV000394805; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411417544114175-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1563C>T10128LRPPRCUncertain significance186518252RCV000308946; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411417644114176-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1498G>A10128LRPPRCUncertain significance142253135RCV000365911; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411424144114241-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1449_*1456dupTTTTTTTT10128LRPPRCUncertain significance57494476RCV000264271; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411428344114290-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1445_*1456dupTTTTTTTTTTTT10128LRPPRCUncertain significance57494476RCV000303246; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411428344114294-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1435delC10128LRPPRCUncertain significance886056047RCV000360363; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411430444114304-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1387_*1390dupACTG10128LRPPRCUncertain significance886056048RCV000268045; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411434944114352-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1371C>T10128LRPPRCUncertain significance111381413RCV000316121; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411436844114368-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1343G>C10128LRPPRCUncertain significance75002669RCV000374358; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411439644114396-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1335T>C10128LRPPRCLikely benign76970610RCV000263384; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411440444114404-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1152C>G10128LRPPRCUncertain significance562361644RCV000330263; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411458744114587-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1121G>T10128LRPPRCUncertain significance371325663RCV000387137; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411461844114618-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1088G>C10128LRPPRCLikely benign79225555RCV000294907; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411465144114651-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*825A>G10128LRPPRCLikely benign17031753RCV000352077; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411491444114914-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*667C>T10128LRPPRCUncertain significance533028399RCV000381024; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411507244115072-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*647G>C10128LRPPRCUncertain significance886056049RCV000288927; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411509244115092-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*590C>T10128LRPPRCUncertain significance886056050RCV000346109; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411514944115149-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*577G>T10128LRPPRCUncertain significance183378286RCV000403685; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411516244115162-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*556A>T10128LRPPRCLikely benign1136998RCV000301796; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411518344115183-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*534G>T10128LRPPRCUncertain significance553327890RCV000340290; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411520544115205-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*485C>T10128LRPPRCUncertain significance886056051RCV000404534; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411525444115254-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*456G>C10128LRPPRCUncertain significance886056052RCV000305130; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411528344115283-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*409C>G10128LRPPRCUncertain significance187382374RCV000352995; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411533044115330-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*399G>A10128LRPPRCUncertain significance149268737RCV000397846; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411534044115340-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*343C>T10128LRPPRCUncertain significance144519599RCV000300194; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411539644115396-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.4177T>G (p.Ser1393Ala)10128LRPPRCUncertain significance139493671RCV000357354; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411574744115747-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.4156C>G (p.Leu1386Val)10128LRPPRCUncertain significance886056053RCV000274217; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524411576844115768-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3901-6T>G10128LRPPRCUncertain significance553466522RCV000331678; RCV000669691; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224412177444121774-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3900+15C>T10128LRPPRCLikely benign76850904RCV000370188; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524412375844123758-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3900+14C>T10128LRPPRCBenign3795859RCV000277937; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524412375944123759-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3737A>G (p.Asn1246Ser)10128LRPPRCUncertain significance886056054RCV000326024; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524412644644126446-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3641A>G (p.Gln1214Arg)10128LRPPRCUncertain significance140482502RCV000382937; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524412667344126673-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3595A>G (p.Asn1199Asp)10128LRPPRCBenign/Likely benign113974315RCV000290393; RCV000513888; RCV000200020; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424412671944126719-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3586G>A (p.Ala1196Thr)10128LRPPRCUncertain significance142097048RCV000329051; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524412672844126728-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3430C>T (p.Arg1144Cys)10128LRPPRCUncertain significance760016065RCV000376700; RCV000673209; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224412859844128598-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3364+6T>A10128LRPPRCUncertain significance543620356RCV000284952; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524413282544132825-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2966G>A (p.Arg989His)10128LRPPRCConflicting interpretations of pathogenicity774857058RCV000342224; RCV000675141; RCV000198211; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472; MedGen:CN51720224414546844145468-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2965C>T (p.Arg989Cys)10128LRPPRCUncertain significance199706677RCV000405827; RCV000764412; RCV000196348; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472; MedGen:CN51720224414546944145469-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2680C>T (p.Leu894Phe)10128LRPPRCUncertain significance886056055RCV000278916; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524416138544161385-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2562A>G (p.Val854=)10128LRPPRCBenign/Likely benign4494798RCV000336341; RCV000676632; RCV000117557; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424416196044161960-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2385C>T (p.Gly795=)10128LRPPRCConflicting interpretations of pathogenicity886056056RCV000402820; RCV000671831; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224417094544170945-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2325A>G (p.Lys775=)10128LRPPRCBenign/Likely benign139634347RCV000311053; RCV000126655; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN16937424417100544171005-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2228C>T (p.Ser743Phe)10128LRPPRCUncertain significance779873239RCV000368192; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524417253944172539-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2216G>A (p.Arg739His)10128LRPPRCUncertain significance187274438RCV000396384; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524417255144172551-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2118A>G (p.Glu706=)10128LRPPRCConflicting interpretations of pathogenicity118188415RCV000314446; RCV000612975; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN16937424417334444173344-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1928A>G (p.His643Arg)10128LRPPRCUncertain significance148575027RCV000362182; RCV000676634; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN51720224417490744174907-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1888C>T (p.Leu630=)10128LRPPRCBenign/Likely benign35881858RCV000270035; RCV000126654; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN16937424417529344175293-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1863T>G (p.Asn621Lys)10128LRPPRCUncertain significance762224854RCV000327399; RCV000666539; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224417531844175318-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1762T>G (p.Leu588Val)10128LRPPRCUncertain significance775978547RCV000365977; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524417563144175631-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1677+11C>G10128LRPPRCLikely benign58811869RCV000264344; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524417770144177701-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1677+7C>T10128LRPPRCUncertain significance374995996RCV000321679; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524417770544177705-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1674C>T (p.Ser558=)10128LRPPRCUncertain significance376787135RCV000378695; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524417771544177715-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1583-14A>G10128LRPPRCConflicting interpretations of pathogenicity372371276RCV000286724; RCV000601360; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN16937424418460444184604-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1432A>G (p.Thr478Ala)10128LRPPRCBenign/Likely benign35035668RCV000316057; RCV000223987; RCV000126651; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424419078344190783UniProtKB (protein):P42704#VAR_052935C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1419T>C (p.Asp473=)10128LRPPRCConflicting interpretations of pathogenicity886056057RCV000373125; RCV000672876; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224419079644190796-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1369+5G>A10128LRPPRCUncertain significance199628926RCV000280932; RCV000667137; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224420074144200741-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1343G>T (p.Gly448Val)10128LRPPRCUncertain significance886056058RCV000338354; RCV000672191; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224420077244200772-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1305T>C (p.Phe435=)10128LRPPRCUncertain significance886056059RCV000391337; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524420081044200810-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1300G>A (p.Gly434Ser)10128LRPPRCUncertain significance760756132RCV000290261; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524420081544200815-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1262-12T>C10128LRPPRCConflicting interpretations of pathogenicity149449510RCV000345203; RCV000600922; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN16937424420086544200865-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1156-8dupT10128LRPPRCConflicting interpretations of pathogenicity747766605RCV000405246; RCV000481416; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN16937424420104744201047-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1068A>G (p.Gln356=)10128LRPPRCBenign4953042RCV000314812; RCV000676637; RCV000117555; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424420137644201376-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.843C>T (p.Gly281=)10128LRPPRCUncertain significance766703715RCV000350853; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524420225144202251-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.441T>C (p.His147=)10128LRPPRCUncertain significance886056060RCV000393281; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524420699344206993-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.246G>A (p.Gln82=)10128LRPPRCBenign6741066RCV000311110; RCV000676638; RCV000117556; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424420947744209477-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.179C>T (p.Ala60Val)10128LRPPRCUncertain significance546399905RCV000356535; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524420954444209544-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.135C>T (p.Ala45=)10128LRPPRCConflicting interpretations of pathogenicity886056061RCV000261783; RCV000667549; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224422295244222952-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.130C>G (p.Arg44Gly)10128LRPPRCUncertain significance886056062RCV000298282; RCV000673117; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224422295744222957-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.114C>T (p.Ser38=)10128LRPPRCUncertain significance886056063RCV000352889; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524422297344222973-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.96C>T (p.Gly32=)10128LRPPRCConflicting interpretations of pathogenicity886056064RCV000267713; RCV000667732; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA7047224422299144222991-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.79C>T (p.Leu27Phe)10128LRPPRCConflicting interpretations of pathogenicity116727742RCV000322781; RCV000757440; RCV000199980; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424422300844223008-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.74G>A (p.Arg25His)10128LRPPRCUncertain significance780400922RCV000377356; RCV000764415; RCV000592673; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472; MedGen:CN51720224422301344223013-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.70C>G (p.Leu24Val)10128LRPPRCUncertain significance749629864RCV000273157; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524422301744223017-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.64C>G (p.Leu22Val)10128LRPPRCConflicting interpretations of pathogenicity181626399RCV000328289; RCV000676639; RCV000126661; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424422302344223023-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.58C>T (p.Leu20Phe)10128LRPPRCConflicting interpretations of pathogenicity184339274RCV000382726; RCV000757441; RCV000126659; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424422302944223029-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.41C>G (p.Ala14Gly)10128LRPPRCBenign/Likely benign114205971RCV000288380; RCV000676640; RCV000126658; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN16937424422304644223046-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.8C>T (p.Ala3Val)10128LRPPRCUncertain significance886056065RCV000352770; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524422307944223079-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.-11A>G10128LRPPRCConflicting interpretations of pathogenicity188424940RCV000388653; RCV000126657; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN16937424422309744223097-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.-19C>G10128LRPPRCUncertain significance574328970RCV000294384; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524422310544223105-C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.-45G>A10128LRPPRCBenign11124961RCV000349366; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000524422313144223131-C0023264 256000 Leigh syndrome;
NM_023936.1(MRPS34):c.321+1G>T65993MRPS34Pathogenic1161932777RCV000505529; RCV000585740; NMedGen:C4540029,OMIM:617664; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700051618227991822799OMIM Allelic Variant:611994.0001C4540029 617664 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32;
NM_023936.1(MRPS34):c.37G>A (p.Glu13Lys)65993MRPS34Likely pathogenic1131692037RCV000505523; RCV000494696; NMedGen:C4540029,OMIM:617664; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700051618230841823084OMIM Allelic Variant:611994.0003C4540029 617664 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32;
NC_012920.1:m.8839G>C4508MT-ATP6Pathogenic1556423547RCV000144024; RCV000495688; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0751651, Orphanet:ORPHA68380M88398839-C0023264 256000 Leigh syndrome;
m.8851T>C4508MT-ATP6Pathogenic199476136RCV000144005; RCV000010280; YMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1839022,OMIM:500003M88518851OMIM Allelic Variant:516060.0006C0023264 256000 Leigh syndrome;
NC_012920.1:m.8989G>C4508MT-ATP6Pathogenic587776444RCV000144025; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M89898989-C0023264 256000 Leigh syndrome;
m.8993T>C4508MT-ATP6Pathogenic199476133RCV000010276; RCV000010275; RCV000754647; RCV000495030; YMedGen:C1838916,OMIM:500010; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3275684,OMIM:500015; MedGen:C0751651, Orphanet:ORPHA68380M89938993OMIM Allelic Variant:516060.0002C1838916 500010 Ataxia and polyneuropathy, adult-onset;
m.9176T>C4508MT-ATP6Pathogenic199476135RCV000010279; RCV000754652; RCV000010278; YMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3275684,OMIM:500015; MedGen:C1839022,OMIM:500003M91769176OMIM Allelic Variant:516060.0005C0023264 256000 Leigh syndrome;
m.9176T>G4508MT-ATP6Pathogenic199476135RCV000010285; RCV000754649; YMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3275684,OMIM:500015M91769176OMIM Allelic Variant:516060.0011C0023264 256000 Leigh syndrome;
m.9185T>C4508MT-ATP6Pathogenic199476138RCV000240612; RCV000010282; RCV000754648; RCV000495689; YMedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3275684,OMIM:500015; MedGen:C0751651, Orphanet:ORPHA68380M91859185OMIM Allelic Variant:516060.0008C0007959 Charcot-Marie-Tooth disease;
m.9191T>C4508MT-ATP6Pathogenic1556423632RCV000144006; YMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M91919191-C0023264 256000 Leigh syndrome;
NC_012920.1:m.9478T>C4514MT-CO3Pathogenic587776437RCV000144007; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M94789478-C0023264 256000 Leigh syndrome;
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;
NC_012920.1:m.3460G>A4535MT-ND1Pathogenic199476118RCV000010370; RCV000143998; RCV000735416; RCV000757484; YHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; na; MedGen:CN517202M34603460OMIM Allelic Variant:516000.0001C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.3481G>A4535MT-ND1Pathogenic587776433RCV000143999; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M34813481-C0023264 256000 Leigh syndrome;
NC_012920.1:m.3890G>A4535MT-ND1Pathogenic587776434RCV000144000; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M38903890-C0023264 256000 Leigh syndrome;
NC_012920.1:m.3928G>C4535MT-ND1Pathogenic587776442RCV000144023; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M39283928-C0023264 256000 Leigh syndrome;
m.4681T>C4536MT-ND2Pathogenic267606889RCV000144022; RCV000010369; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951M46814681OMIM Allelic Variant:516001.0006C0023264 256000 Leigh syndrome;
NC_012920.1:m.10134C>A4537MT-ND3Pathogenic587780529RCV000144458; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M1013410134-C0023264 256000 Leigh syndrome;
m.10158T>C4537MT-ND3Pathogenic199476117RCV000144009; RCV000010360; RCV000224598; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257501,OMIM:500014; MedGen:CN517202M1015810158OMIM Allelic Variant:516002.0003C0023264 256000 Leigh syndrome;
m.10191T>C4537MT-ND3Pathogenic267606890RCV000144010; RCV000010358; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257501,OMIM:500014M1019110191OMIM Allelic Variant:516002.0001C0023264 256000 Leigh syndrome;
m.10197G>A4537MT-ND3Pathogenic267606891RCV000010363; RCV000144011; RCV000010362; RCV000507278; NMedGen:C1839040,OMIM:500001; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257501,OMIM:500014; MedGen:CN517202M1019710197OMIM Allelic Variant:516002.0004C1839040 500001 Leber hereditary optic neuropathy with dystonia;
NC_012920.1:m.10254G>A4537MT-ND3Pathogenic587776438RCV000144012; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M1025410254-C0023264 256000 Leigh syndrome;
m.11777C>A4538MT-ND4Pathogenic28384199RCV000144013; RCV000010357; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609M1177711777OMIM Allelic Variant:516003.0004C0023264 256000 Leigh syndrome;
NC_012920.1:m.11984T>C4538MT-ND4Pathogenic200911567RCV000144014; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M1198411984-C0023264 256000 Leigh syndrome;
m.12706T>C4540MT-ND5Pathogenic267606893RCV000144015; RCV000010338; YMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951M1270612706OMIM Allelic Variant:516005.0003C0023264 256000 Leigh syndrome;
m.13513G>A-1MT-ND5;MT-TL1Pathogenic267606897RCV000010345; RCV000144016; RCV000010346; RCV000494941; RCV000224472; YMedGen:C0162671,OMIM:540000, Orphanet:ORPHA550,SNOMED CT:39925003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN517202M1351313513OMIM Allelic Variant:516005.0007C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1:m.13514A>G-1MT-ND5;MT-TL1Pathogenic587776440RCV000144017; YMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M1351413514-C0023264 256000 Leigh syndrome;
m.14459G>A4541MT-ND6Pathogenic199476105RCV000010326; RCV000010327; RCV000144019; RCV000010328; NMedGen:C1839040,OMIM:500001; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951M1445914459OMIM Allelic Variant:516006.0002C1839040 500001 Leber hereditary optic neuropathy with dystonia;
NC_012920.1:m.14484T>C4541MT-ND6Pathogenic199476104RCV000010325; RCV000144018; RCV000223709; YHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202M1448414484OMIM Allelic Variant:516006.0001C0917796 535000 Leber's optic atrophy;
m.14487T>C4541MT-ND6Pathogenic199476109RCV000144020; RCV000010333; RCV000010334; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1838954M1448714487OMIM Allelic Variant:516006.0007C0023264 256000 Leigh syndrome;
m.8344A>G4566MT-TKConflicting interpretations of pathogenicity118192098RCV000010193; RCV000495310; RCV000010192; RCV000010194; RCV000224965; YMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0162672,OMIM:545000, Orphanet:ORPHA551; MedGen:C1838867,OMIM:556500; MedGen:CN517202M83448344OMIM Allelic Variant:590060.0001C0023264 256000 Leigh syndrome;
m.8363G>A4566MT-TKPathogenic118192100RCV000010197; RCV000144004; RCV000192053; YMedGen:C4016620; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0162672,OMIM:545000, Orphanet:ORPHA551M83638363OMIM Allelic Variant:590060.0003C4016620 Cardiomyopathy and Deafness;
m.1624C>T4577MT-TVPathogenic199476144RCV000010158; RCV000010157; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; Human Phenotype Ontology:HP:0003811,MedGen:C0410916M16241624OMIM Allelic Variant:590105.0002C0023264 256000 Leigh syndrome;
NC_012920.1:m.1644G>T4577MT-TVPathogenic587776441RCV000144021; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M16441644-C0023264 256000 Leigh syndrome;
NC_012920.1:m.5523T>G4578MT-TWPathogenic587776435RCV000144001; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M55235523-C0023264 256000 Leigh syndrome;
m.5537_5538insT4578MT-TWPathogenic199474672RCV000010165; RCV000010164; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; Human Phenotype Ontology:HP:0006789,MedGen:C1852373M55375538OMIM Allelic Variant:590095.0002C0023264 256000 Leigh syndrome;
NC_012920.1:m.5559A>G4578MT-TWPathogenic1556423008RCV000144003; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005M55595559-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3557G>A4705NDUFA10Uncertain significance149933652RCV000282070; RCV000334827; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240896978240896978-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3450G>A4705NDUFA10Likely benign7573892RCV000407125; RCV000313749; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897085240897085-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3408T>C4705NDUFA10Uncertain significance886055810RCV000405985; RCV000370283; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897127240897127-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3349G>A4705NDUFA10Uncertain significance77216981RCV000364536; RCV000312144; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897186240897186-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3205G>A4705NDUFA10Uncertain significance886055811RCV000325291; RCV000272597; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897330240897330-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3204C>T4705NDUFA10Likely benign34277046RCV000266639; RCV000363605; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897331240897331-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3141C>T4705NDUFA10Uncertain significance144864637RCV000378087; RCV000321071; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897394240897394-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3113G>A4705NDUFA10Uncertain significance886055812RCV000281251; RCV000319847; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897422240897422-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3098A>T4705NDUFA10Uncertain significance886055813RCV000279849; RCV000372049; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897437240897437-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3075T>G4705NDUFA10Uncertain significance7588974RCV000408158; RCV000351219; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897460240897460-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3067C>T4705NDUFA10Uncertain significance564992184RCV000293130; RCV000350383; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897468240897468-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2997G>A4705NDUFA10Uncertain significance886055814RCV000310655; RCV000408151; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897538240897538-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2685C>A4705NDUFA10Uncertain significance114807372RCV000403818; RCV000363196; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897850240897850-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2649G>A4705NDUFA10Uncertain significance886055815RCV000362023; RCV000305026; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897886240897886-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2602C>T4705NDUFA10Likely benign58261980RCV000263944; RCV000321470; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240897933240897933-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2495C>T4705NDUFA10Uncertain significance78395168RCV000355304; RCV000263762; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898040240898040-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2397A>G4705NDUFA10Uncertain significance886055816RCV000373549; RCV000316615; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898138240898138-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2309G>A4705NDUFA10Likely benign1132778RCV000276578; RCV000334028; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898226240898226-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2297T>G4705NDUFA10Uncertain significance773090030RCV000294050; RCV000386093; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898238240898238-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2192T>A4705NDUFA10Uncertain significance886055817RCV000346747; RCV000384939; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898343240898343-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2149C>T4705NDUFA10Uncertain significance570872300RCV000345362; RCV000288049; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898386240898386-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2111G>A4705NDUFA10Uncertain significance752139055RCV000392087; RCV000305816; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898424240898424-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2042A>C4705NDUFA10Uncertain significance886055818RCV000405302; RCV000340471; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898493240898493-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1957G>A4705NDUFA10Likely benign4854069RCV000300653; RCV000353226; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898578240898578-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1923_*1924insA4705NDUFA10Likely benign138899326RCV000260857; RCV000313673; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898611240898612-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1915G>A4705NDUFA10Uncertain significance144590599RCV000273905; RCV000370813; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898620240898620-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1894_*1914del21insGGG4705NDUFA10Uncertain significance886055819RCV000330773; RCV000383047; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898621240898641-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1884G>C4705NDUFA10Uncertain significance886055820RCV000325365; RCV000272672; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240898651240898651-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1262C>T4705NDUFA10Uncertain significance759194775RCV000382246; RCV000285514; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899273240899273-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1229C>G4705NDUFA10Likely benign55998047RCV000342719; RCV000376401; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899306240899306-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1214C>T4705NDUFA10Uncertain significance546735567RCV000337345; RCV000284687; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899321240899321-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1212T>C4705NDUFA10Uncertain significance886055821RCV000297697; RCV000407435; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899323240899323-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1189C>T4705NDUFA10Likely benign66534347RCV000407422; RCV000336034; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899346240899346-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1129G>A4705NDUFA10Uncertain significance886055822RCV000367481; RCV000315183; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899406240899406-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1011A>G4705NDUFA10Uncertain significance575477219RCV000309561; RCV000275465; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899524240899524-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*925C>G4705NDUFA10Uncertain significance149563558RCV000366444; RCV000269623; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899610240899610-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*740C>T4705NDUFA10Uncertain significance886055823RCV000327138; RCV000360871; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899795240899795-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*647C>T4705NDUFA10Uncertain significance116254382RCV000321400; RCV000268599; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899888240899888-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*631C>T4705NDUFA10Likely benign10933622RCV000279152; RCV000373766; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899904240899904-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*546G>A4705NDUFA10Uncertain significance192485848RCV000320098; RCV000374741; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240899989240899989-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*489A>G4705NDUFA10Uncertain significance886055824RCV000349229; RCV000294263; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900046240900046-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*438C>T4705NDUFA10Likely benign13396556RCV000295440; RCV000408270; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900097240900097-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*414G>A4705NDUFA10Likely benign13424612RCV000345516; RCV000408266; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900121240900121-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*412A>G4705NDUFA10Uncertain significance546052985RCV000365252; RCV000310551; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900123240900123-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*407C>T4705NDUFA10Likely benign74614612RCV000302356; RCV000405266; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900128240900128-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*389C>T4705NDUFA10Uncertain significance539829771RCV000361689; RCV000267063; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900146240900146-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*361A>G4705NDUFA10Uncertain significance778261754RCV000317150; RCV000353317; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900174240900174-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*308C>T4705NDUFA10Likely benign8369RCV000263165; RCV000318301; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900227240900227-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*105G>A4705NDUFA10Uncertain significance886055825RCV000386938; RCV000292644; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240900430240900430-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.1000-3C>G4705NDUFA10Conflicting interpretations of pathogenicity199648872RCV000388170; RCV000333603; RCV000199808; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN5172022240900606240900606-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.1000-5delC4705NDUFA10Benign/Likely benign138479490RCV000289165; RCV000344109; RCV000676554; RCV000199510; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742240900608240900608-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.865C>T (p.Arg289Cys)4705NDUFA10Uncertain significance762669820RCV000290264; RCV000401972; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240944652240944652-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.771A>G (p.Gln257=)4705NDUFA10Likely benign13848RCV000392330; RCV000340422; RCV000676555; RCV000117700; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742240946766240946766-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.749+11C>T4705NDUFA10Uncertain significance200760509RCV000305494; RCV000360176; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240951023240951023-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.549T>C (p.Cys183=)4705NDUFA10Conflicting interpretations of pathogenicity149783296RCV000301141; RCV000392325; RCV000613561; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742240954276240954276-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.548-9A>G4705NDUFA10Conflicting interpretations of pathogenicity147876332RCV000355965; RCV000275112; RCV000676557; RCV000127100; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742240954286240954286-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.270G>A (p.Gly90=)4705NDUFA10Uncertain significance770747594RCV000311748; RCV000371039; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240960804240960804-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.105A>G (p.Lys35=)4705NDUFA10Likely benign2083411RCV000276426; RCV000326842; RCV000676559; RCV000117699; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742240961728240961728-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.24G>A (p.Leu8=)4705NDUFA10Benign/Likely benign113012830RCV000273080; RCV000381649; RCV000173349; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742240964695240964695-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.5C>G (p.Ala2Gly)4705NDUFA10Benign/Likely benign11541494RCV000328287; RCV000378198; RCV000676560; RCV000383086; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742240964714240964714UniProtKB (protein):O95299#VAR_034149C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.-36C>T4705NDUFA10Uncertain significance886055826RCV000343470; RCV000283761; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240964754240964754-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.-87A>C4705NDUFA10Uncertain significance886055827RCV000279233; RCV000379454; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240964805240964805-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.-92C>T4705NDUFA10Uncertain significance559797625RCV000392831; RCV000335419; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240964810240964810-C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.-93G>T4705NDUFA10Uncertain significance577432343RCV000300216; RCV000350479; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092240964811240964811-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-110A>C91942NDUFAF2Uncertain significance886060723RCV000369739; RCV000312758; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956024097360240973-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-66G>C91942NDUFAF2Uncertain significance376045901RCV000320170; RCV000358426; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956024101760241017-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-63G>T91942NDUFAF2Uncertain significance886060724RCV000323536; RCV000266073; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956024102060241020-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-21_-20dupGC91942NDUFAF2Uncertain significance886060725RCV000380475; RCV000268762; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956024106260241063-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.98A>G (p.Tyr33Cys)91942NDUFAF2Uncertain significance779872068RCV000294764; RCV000386723; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956024118060241180-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.128-14C>G91942NDUFAF2Uncertain significance537327206RCV000351951; RCV000399037; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956036893860368938-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.139C>T (p.Arg47Ter)91942NDUFAF2Pathogenic137852863RCV000624428; RCV000679870; RCV000001661; NMeSH:D030342,MedGen:C0950123; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257505,OMIM:61823356036896360368963OMIM Allelic Variant:609653.0001C0950123 Inborn genetic diseases;
NM_174889.4(NDUFAF2):c.196G>C (p.Asp66His)91942NDUFAF2Uncertain significance769579395RCV000298358; RCV000336991; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956036902060369020-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.221G>A (p.Trp74Ter)91942NDUFAF2Pathogenic772294726RCV000587093; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000556039482260394822-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.414T>A (p.Phe138Leu)91942NDUFAF2Uncertain significance770172045RCV000302238; RCV000400065; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956044868660448686-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.422A>T (p.Glu141Val)91942NDUFAF2Uncertain significance749677218RCV000359308; RCV000266885; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260956044869460448694-C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.462T>C (p.Phe154=)91942NDUFAF2Conflicting interpretations of pathogenicity77878573RCV000305680; RCV000363788; RCV000676955; RCV000127122; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN16937456044873460448734-C0023264 256000 Leigh syndrome;
NM_152416.3(NDUFAF6):c.719G>T (p.Gly240Val)137682NDUFAF6Likely pathogenic762620949RCV000626222; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000589606068996060689-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*966A>G4719NDUFS1Uncertain significance755776989RCV000301641; RCV000358744; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206987943206987943-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*866A>C4719NDUFS1Uncertain significance749790811RCV000307294; RCV000398472; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988043206988043-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*846delT4719NDUFS1Likely benign58253838RCV000329565; RCV000367850; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988063206988063-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*846dupT4719NDUFS1Uncertain significance58253838RCV000271891; RCV000364348; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988063206988063-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*756A>T4719NDUFS1Uncertain significance755460274RCV000275533; RCV000332991; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988153206988153-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*733A>G4719NDUFS1Likely benign6707707RCV000278615; RCV000389432; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988176206988176-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*641A>G4719NDUFS1Uncertain significance886055501RCV000317468; RCV000374378; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988268206988268-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*561T>C4719NDUFS1Uncertain significance146538309RCV000339709; RCV000282324; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988348206988348-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*504G>A4719NDUFS1Uncertain significance548641207RCV000394554; RCV000286009; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988405206988405-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*457T>A4719NDUFS1Likely benign4147728RCV000342686; RCV000394556; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988452206988452-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*438C>T4719NDUFS1Uncertain significance561980718RCV000364628; RCV000307565; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988471206988471-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*399G>A4719NDUFS1Uncertain significance77000728RCV000402213; RCV000310899; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988510206988510-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*336G>T4719NDUFS1Likely benign1044120RCV000275804; RCV000368047; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988573206988573-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*256C>T4719NDUFS1Likely benign10198830RCV000333555; RCV000353381; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988653206988653-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*158T>C4719NDUFS1Uncertain significance3770989RCV000318219; RCV000260695; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988751206988751-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*151T>C4719NDUFS1Uncertain significance533179154RCV000375427; RCV000283276; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988758206988758-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*93dupA4719NDUFS1Uncertain significance200446477RCV000378852; RCV000321842; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988816206988816-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*27C>T4719NDUFS1Uncertain significance369746514RCV000288060; RCV000345317; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988882206988882-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.2006A>G (p.Asn669Ser)4719NDUFS1Uncertain significance142716964RCV000397460; RCV000291718; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206991447206991447-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1516G>A (p.Val506Ile)4719NDUFS1Uncertain significance137889316RCV000397471; RCV000348996; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206997706206997706-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1393-7delT4719NDUFS1Uncertain significance760292289RCV000352020; RCV000313581; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206997836206997836-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1371G>A (p.Ser457=)4719NDUFS1Conflicting interpretations of pathogenicity2230892RCV000298259; RCV000399898; RCV000676270; RCV000127145; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742207003230207003230-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1363A>G (p.Ile455Val)4719NDUFS1Uncertain significance758095913RCV000262962; RCV000355346; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207003238207003238-C0023264 256000 Leigh syndrome;
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=)4719NDUFS1Benign/Likely benign1801318RCV000358690; RCV000301574; RCV000676271; RCV000117709; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742207006676207006676-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1120A>G (p.Thr374Ala)4719NDUFS1Uncertain significance765436915RCV000266394; RCV000323881; RCV000519440; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN5172022207007423207007423-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.975C>T (p.Arg325=)4719NDUFS1Benign/Likely benign2230890RCV000270808; RCV000381710; RCV000127141; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207008754207008754-C0023264 256000 Leigh syndrome;
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=)4719NDUFS1Benign/Likely benign1127566RCV000385000; RCV000328157; RCV000676273; RCV000117710; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742207008763207008763-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.551+14C>A4719NDUFS1Benign/Likely benign10206644RCV000293249; RCV000350546; RCV000127140; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207012241207012241-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.421-7A>G4719NDUFS1Conflicting interpretations of pathogenicity192949406RCV000296747; RCV000388644; RCV000127139; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207012392207012392-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.414T>C (p.Asp138=)4719NDUFS1Benign/Likely benign11548670RCV000395218; RCV000334929; RCV000676275; RCV000127138; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742207012483207012483-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.396C>A (p.Asp132Glu)4719NDUFS1Uncertain significance757139275RCV000299872; RCV000338484; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207012501207012501-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.364G>A (p.Ala122Thr)4719NDUFS1Uncertain significance886055502RCV000395226; RCV000303664; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207012533207012533-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.262-15delT4719NDUFS1Uncertain significance34184317RCV000364669; RCV000307662; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207013835207013835-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.262-15dupT4719NDUFS1Uncertain significance34184317RCV000268364; RCV000360707; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207013835207013835-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.154-10_154-9delTT4719NDUFS1Uncertain significance568965659RCV000329832; RCV000272442; RCV000676276; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN5172022207014658207014659-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.123C>T (p.Val41=)4719NDUFS1Benign/Likely benign2230888RCV000386489; RCV000275731; RCV000127147; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207017173207017173-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.-47C>G4719NDUFS1Likely benign4147707RCV000371529; RCV000333207; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207024107207024107-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.-41T>C4722NDUFS3Uncertain significance750965789RCV000290487; RCV000347926; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760060347600603-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.-30C>T4722NDUFS3Uncertain significance375483884RCV000392871; RCV000308294; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760061447600614-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.79C>T (p.Pro27Ser)4722NDUFS3Conflicting interpretations of pathogenicity368907187RCV000342182; RCV000403906; RCV000197472; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374114760083247600832-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.91T>C (p.Leu31=)4722NDUFS3Conflicting interpretations of pathogenicity770306617RCV000358793; RCV000301677; RCV000616791; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374114760084447600844-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.190T>C (p.Tyr64His)4722NDUFS3Uncertain significance886048391RCV000261687; RCV000300392; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760213347602133-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.204C>G (p.Ile68Met)4722NDUFS3Uncertain significance886044765RCV000293525; RCV000293525; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760214747602147-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.381+5G>T4722NDUFS3Uncertain significance886048392RCV000352949; RCV000261462; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760254147602541-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.381+6T>C4722NDUFS3Uncertain significance377579231RCV000332963; RCV000389911; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760254247602542-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.475G>C (p.Val159Leu)4722NDUFS3Uncertain significance148331180RCV000331648; RCV000274500; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760373347603733-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.628-7C>T4722NDUFS3Conflicting interpretations of pathogenicity11039306RCV000292090; RCV000383892; RCV000127156; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374114760585947605859-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.657G>A (p.Val219=)4722NDUFS3Uncertain significance377323760RCV000325919; RCV000382544; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760589547605895-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.753T>G (p.Ser251Arg)4722NDUFS3Uncertain significance752314902RCV000285816; RCV000342978; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760599147605991-C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.783T>C (p.Pro261=)4722NDUFS3Uncertain significance117981655RCV000284678; RCV000406732; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609114760602147606021-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.-22C>A4724NDUFS4Uncertain significance144843461RCV000268982; RCV000365896; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260955285647152856471-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.12G>C (p.Val4=)4724NDUFS4Benign2279516RCV000326276; RCV000387876; RCV000676473; RCV000117713; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN16937455285650452856504-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.13T>C (p.Ser5Pro)4724NDUFS4Uncertain significance149323691RCV000329830; RCV000660466; RCV000295911; RCV000660466; RCV000198881; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN51720255285650552856505-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.99-1G>A4724NDUFS4Pathogenic376281345RCV000588112; RCV000007294; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:25201055289928152899281OMIM Allelic Variant:602694.0005C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.102G>A (p.Ser34=)4724NDUFS4Conflicting interpretations of pathogenicity138941073RCV000386502; RCV000280441; RCV000127157; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN16937455289928552899285-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.178-4G>C4724NDUFS4Uncertain significance200384843RCV000395461; RCV000337873; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260955294205952942059-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.178-2A>G4724NDUFS4Pathogenic1554059248RCV000578463; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000555294206152942061-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.198A>C (p.Gly66=)4724NDUFS4Benign31304RCV000342200; RCV000280222; RCV000676474; RCV000117714; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN16937455294208352942083-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.312A>G (p.Arg104=)4724NDUFS4Benign31303RCV000302455; RCV000398452; RCV000676475; RCV000117715; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN16937455294219752942197-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.351-11_351-8delGTTT4724NDUFS4Conflicting interpretations of pathogenicity375549253RCV000390165; RCV000509247; RCV000359717; RCV000509247; RCV000481960; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN16937455295437052954373-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.355G>C (p.Asp119His)4724NDUFS4Uncertain significance-1RCV000714800; RCV000714799; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260955295438552954385-
NM_002495.3(NDUFS4):c.424+19dupT4724NDUFS4Likely benign140172554RCV000363200; RCV000310876; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260955295447352954473-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.462delA (p.Lys154Asnfs)4724NDUFS4Pathogenic587776949RCV000586784; RCV000133549; RCV000197700; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN51720255297898552978985OMIM Allelic Variant:602694.0006C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.470_471delCC (p.Ser157Terfs)4724NDUFS4Pathogenic1554062427RCV000578386; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:2957000555297899352978994-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.512_514dup (p.Arg171_Val172insGly)4724NDUFS4Uncertain significance1425486695RCV000673864; RCV000673864; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260955297903452979034-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.*46G>A4724NDUFS4Likely benign567RCV000313869; RCV000270413; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260955297909752979097-C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.*79A>G4724NDUFS4Uncertain significance886060699RCV000274350; RCV000370910; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA260955297913052979130-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.21T>C (p.Pro7=)374291NDUFS7Uncertain significance201222388RCV000287249; RCV000400936; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913878141387814-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.68C>T (p.Pro23Leu)374291NDUFS7Likely benign1142530RCV000342300; RCV000407392; RCV000676449; RCV000117716; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693741913885381388538UniProtKB (protein):O75251#VAR_014482C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.153C>T (p.Ala51=)374291NDUFS7Conflicting interpretations of pathogenicity140236960RCV000365710; RCV000301558; RCV000127162; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693741913888621388862-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.270C>T (p.Ala90=)374291NDUFS7Uncertain significance375120743RCV000405173; RCV000307576; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913909111390911-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.322G>A (p.Val108Met)374291NDUFS7Uncertain significance368174338RCV000277814; RCV000362301; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913909631390963-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.408+10G>T374291NDUFS7Benign/Likely benign2074896RCV000368788; RCV000332803; RCV000676450; RCV000127163; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693741913910591391059-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.561C>A (p.Ala187=)374291NDUFS7Uncertain significance144570086RCV000319795; RCV000274190; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913954061395406-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.613C>G (p.Arg205Gly)374291NDUFS7Uncertain significance775856806RCV000374513; RCV000279854; RCV000197172; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN5172021913954581395458-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.*8G>A374291NDUFS7Uncertain significance756081375RCV000290128; RCV000398809; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913954951395495-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.*15_*20delCCGCCG374291NDUFS7Uncertain significance3065757RCV000285831; RCV000339391; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913955021395507-C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.*18_*20delCCG374291NDUFS7Uncertain significance3065757RCV000316210; RCV000380225; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26091913955051395507-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.-98G>A4728NDUFS8Uncertain significance886048591RCV000310649; RCV000365206; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116779810367798103-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.-76C>T4728NDUFS8Uncertain significance544094420RCV000275260; RCV000330456; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116779812567798125-C0023264 256000 Leigh syndrome;
NM_002496.2(NDUFS8):c.4C>T (p.Arg2Cys)4728NDUFS8Uncertain significance150278938RCV000765008; RCV000726015; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202116779962267799622-
NM_002496.3(NDUFS8):c.64C>T (p.Pro22Ser)4728NDUFS8Conflicting interpretations of pathogenicity369602258RCV000389629; RCV000276295; RCV000196794; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116779975867799758-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.133G>A (p.Glu45Lys)4728NDUFS8Uncertain significance764943259RCV000372098; RCV000317408; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116780041367800413-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.199+5G>A4728NDUFS8Uncertain significance373522607RCV000282341; RCV000337029; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116780048467800484-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.199+15T>G4728NDUFS8Benign3115545RCV000283040; RCV000377576; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116780049467800494-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.200-14C>T4728NDUFS8Uncertain significance373128833RCV000342747; RCV000401109; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116780056467800564-C0023264 256000 Leigh syndrome;
NM_002496.2(NDUFS8):c.236C>T (p.Pro79Leu)4728NDUFS8Likely pathogenic28939679RCV000762861; RCV000007941; RCV000442702; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257508,OMIM:618222; MedGen:CN517202116780061467800614OMIM Allelic Variant:602141.0001,UniProtKB (protein):O00217#VAR_019538
NM_002496.3(NDUFS8):c.299C>T (p.Ala100Val)4728NDUFS8Conflicting interpretations of pathogenicity748754134RCV000307867; RCV000344135; RCV000490220; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202116780067767800677-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.343A>G (p.Lys115Glu)4728NDUFS8Likely pathogenic764276946RCV000200148; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005116780072167800721-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.441G>C (p.Met147Ile)4728NDUFS8Likely pathogenic1267554976RCV000578254; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005116780378867803788-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.459C>T (p.Cys153=)4728NDUFS8Conflicting interpretations of pathogenicity149201273RCV000308579; RCV000390917; RCV000418827; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116780380667803806-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.484G>A (p.Val162Met)4728NDUFS8Uncertain significance1277027467RCV000625885; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005116780383167803831-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.501+12C>G4728NDUFS8Uncertain significance372004236RCV000367973; RCV000390827; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116780386067803860-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.502-13C>T4728NDUFS8Conflicting interpretations of pathogenicity199793417RCV000369510; RCV000314847; RCV000427186; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116780391667803916-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.502-10C>T4728NDUFS8Conflicting interpretations of pathogenicity369961682RCV000315895; RCV000260796; RCV000602666; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116780391967803919-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.597C>T (p.Ile199=)4728NDUFS8Conflicting interpretations of pathogenicity1804688RCV000356692; RCV000265926; RCV000437098; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116780402467804024-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.598G>A (p.Ala200Thr)4728NDUFS8Uncertain significance578145610RCV000380344; RCV000321000; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116780402567804025-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.*26T>G4728NDUFS8Uncertain significance886048592RCV000291771; RCV000381321; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116780408667804086-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.*44C>T4728NDUFS8Uncertain significance201815115RCV000352578; RCV000293152; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116780410467804104-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.*14C>T-1NDUFS8;TCIRG1Benign/Likely benign1051806RCV000285968; RCV000326666; RCV000313524; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; Human Phenotype Ontology:HP:0011002,MedGen:C0029454, Orphanet:ORPHA2781116780407467804074-C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.*40A>G-1NDUFS8;TCIRG1Conflicting interpretations of pathogenicity61329983RCV000346629; RCV000399461; RCV000370635; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; Human Phenotype Ontology:HP:0011002,MedGen:C0029454, Orphanet:ORPHA2781116780410067804100-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-111T>C4723NDUFV1Uncertain significance563140258RCV000363161; RCV000270772; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737436567374365-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-66G>A4723NDUFV1Likely benign73490568RCV000332823; RCV000389913; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737441067374410-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-45T>G4723NDUFV1Conflicting interpretations of pathogenicity373940385RCV000331800; RCV000274501; RCV000196176; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116737443167374431-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-34T>A4723NDUFV1Uncertain significance886048586RCV000281628; RCV000374785; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737444267374442-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.72+15G>T4723NDUFV1Conflicting interpretations of pathogenicity187400726RCV000372683; RCV000315626; RCV000127169; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116737456267374562-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.150C>T (p.Asp50=)4723NDUFV1Conflicting interpretations of pathogenicity11540012RCV000285221; RCV000342561; RCV000676963; RCV000199787; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374116737594467375944-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.205C>T (p.Leu69=)4723NDUFV1Conflicting interpretations of pathogenicity199543483RCV000284822; RCV000393780; RCV000424374; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116737607267376072-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.218C>T (p.Pro73Leu)4723NDUFV1Uncertain significance886048587RCV000346779; RCV000393779; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737608567376085-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.326+12G>A4723NDUFV1Uncertain significance184136353RCV000363981; RCV000307097; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737620567376205-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.333G>T (p.Lys111Asn)4723NDUFV1Uncertain significance886048588RCV000390796; RCV000315055; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737692967376929-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.366G>A (p.Pro122=)4723NDUFV1Conflicting interpretations of pathogenicity140445386RCV000367341; RCV000275192; RCV000444047; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374116737696267376962-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.414G>T (p.Leu138=)4723NDUFV1Uncertain significance148461900RCV000318618; RCV000353349; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737701067377010-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.530A>G (p.Tyr177Cys)4723NDUFV1Uncertain significance551603121RCV000322932; RCV000260749; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737787167377871-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.549C>G (p.Gly183=)4723NDUFV1Benign/Likely benign10896187RCV000379810; RCV000283254; RCV000676965; RCV000127166; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374116737789067377890-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.563G>A (p.Gly188Asp)4723NDUFV1Uncertain significance142982022RCV000383441; RCV000321979; RCV000523777; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202116737790467377904-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.606G>A (p.Gly202=)4723NDUFV1Uncertain significance886048589RCV000343621; RCV000291492; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737794767377947-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.800G>A (p.Arg267Lys)4723NDUFV1Uncertain significance141400889RCV000294572; RCV000390228; RCV000195680; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202116737856567378565-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.819C>T (p.Thr273=)4723NDUFV1Uncertain significance150859374RCV000392952; RCV000351838; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737858467378584-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.843T>C (p.His281=)4723NDUFV1Uncertain significance766555879RCV000312468; RCV000355545; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737860867378608-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.904A>G (p.Lys302Glu)4723NDUFV1Uncertain significance573896386RCV000297655; RCV000392931; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737866967378669-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1017C>T (p.Phe339=)4723NDUFV1Uncertain significance371426372RCV000267146; RCV000354895; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737897767378977-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1056T>C (p.Ala352=)4723NDUFV1Benign/Likely benign11227859RCV000305888; RCV000358134; RCV000676966; RCV000127167; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374116737901667379016-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1075C>T (p.Arg359Cys)4723NDUFV1Uncertain significance142499054RCV000265767; RCV000327949; RCV000761787; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202116737903567379035-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1079C>T (p.Ser360Leu)4723NDUFV1Uncertain significance372208500RCV000384838; RCV000269669; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737903967379039-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1102G>A (p.Ala368Thr)4723NDUFV1Uncertain significance376958800RCV000327027; RCV000388550; RCV000195640; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202116737938967379389-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1188G>A (p.Met396Ile)4723NDUFV1Uncertain significance142050639RCV000349342; RCV000296595; RCV000416264; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202116737961667379616-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1309-9C>T4723NDUFV1Uncertain significance374581520RCV000387593; RCV000281538; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737983467379834-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1353G>T (p.Gln451His)4723NDUFV1Uncertain significance768582587RCV000391889; RCV000338882; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737988767379887-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1378C>T (p.Arg460Trp)4723NDUFV1Uncertain significance372047256RCV000303945; RCV000342474; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737991267379912-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.*14C>T4723NDUFV1Uncertain significance886048590RCV000304897; RCV000391895; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116737994367379943-C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.*79C>T4723NDUFV1Uncertain significance76839099RCV000269563; RCV000364194; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609116738000867380008-C0023264 256000 Leigh syndrome;
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.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.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.-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_004168.3(SDHA):c.-115T>C6389SDHALikely benign2303741RCV000338764; RCV000313041; RCV000400671; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218356218356-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-84dupC6389SDHALikely benign35805262RCV000307350; RCV000399941; RCV000370159; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218387218387-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-63G>A6389SDHAUncertain significance886060513RCV000329506; RCV000272151; RCV000364389; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218408218408-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-4A>G6389SDHABenign/Likely benign377134185RCV000572973; RCV000266213; RCV000323529; RCV000358590; RCV000251091; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745218467218467-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.-1C>T6389SDHAUncertain significance560932680RCV000279041; RCV000317717; RCV000380480; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218470218470-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp)6389SDHABenign/Likely benign187964306RCV000573807; RCV000349064; RCV000210499; RCV000374489; RCV000210499; RCV000411625; RCV000282383; RCV000224380; RCV000216190; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; Hu5218487218487-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter)6389SDHAPathogenic142441643RCV000170328; RCV000763139; RCV000131808; RCV000763139; RCV000627791; RCV000763139; RCV000148026; RCV000627791; RCV000763139; RCV000722034; RCV000413945; NMedGen:C1858592,OMIM:604287, Orphanet:ORPHA139411; MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011,5223624223624OMIM Allelic Variant:600857.0008C1858592 604287 Carney triad;
NM_004168.3(SDHA):c.92G>A (p.Arg31Gln)6389SDHAUncertain significance752532780RCV000764598; RCV000571153; RCV000764598; RCV000225880; RCV000764598; RCV000225880; RCV000410721; RCV000764598; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5223625223625-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.113A>T (p.Asp38Val)6389SDHABenign/Likely benign34635677RCV000567706; RCV000352522; RCV000210535; RCV000387287; RCV000210535; RCV000295347; RCV000757746; RCV000245657; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005223646223646UniProtKB (protein):P31040#VAR_049215C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.133G>A (p.Ala45Thr)6389SDHAConflicting interpretations of pathogenicity140736646RCV000572294; RCV000678682; RCV000308179; RCV000210508; RCV000401643; RCV000210508; RCV000410936; RCV000347454; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C2608055; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279995223666223666-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.155C>T (p.Ser52Phe)6389SDHAUncertain significance377470390RCV000764599; RCV000565564; RCV000764599; RCV000239368; RCV000764599; RCV000239368; RCV000764599; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5224479224479-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.163T>C (p.Tyr55His)6389SDHABenign/Likely benign142926807RCV000570704; RCV000360177; RCV000399750; RCV000464569; RCV000464569; RCV000303103; RCV000606498; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005224487224487-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.269T>C (p.Val90Ala)6389SDHAUncertain significance886060514RCV000267910; RCV000297336; RCV000354574; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005224593224593-C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.309A>G (p.Ala103=)6389SDHABenign/Likely benign1139424RCV000162942; RCV000261547; RCV000385778; RCV000319629; RCV000757747; RCV000118318; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745224633224633-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.441C>T (p.Pro147=)6389SDHAConflicting interpretations of pathogenicity201453889RCV000564203; RCV000332396; RCV000233726; RCV000389166; RCV000233726; RCV000274933; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005225662225662-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.442G>A (p.Ala148Thr)6389SDHAUncertain significance375576259RCV000572868; RCV000287726; RCV000228365; RCV000383376; RCV000228365; RCV000345164; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005225663225663-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.445G>A (p.Ala149Thr)6389SDHAUncertain significance575617625RCV000764600; RCV000571754; RCV000764600; RCV000702947; RCV000764600; RCV000702947; RCV000764600; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5225666225666-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.448G>A (p.Val150Met)6389SDHAUncertain significance542980860RCV000764601; RCV000562589; RCV000764601; RCV000695590; RCV000764601; RCV000695590; RCV000764601; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5225669225669-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.549C>T (p.Gly183=)6389SDHABenign/Likely benign61733344RCV000571465; RCV000291747; RCV000239367; RCV000394814; RCV000239367; RCV000339713; RCV000418051; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005226090226090-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg)6389SDHABenign/Likely benign148246073RCV000575599; RCV000390055; RCV000204241; RCV000343277; RCV000204241; RCV000304507; RCV000514856; RCV000607544; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005226091226091-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.613T>C (p.Tyr205His)6389SDHAUncertain significance61754481RCV000764602; RCV000575607; RCV000764602; RCV000471598; RCV000764602; RCV000471598; RCV000764602; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5226154226154-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.619A>C (p.Arg207=)6389SDHABenign/Likely benign6555055RCV000162480; RCV000298743; RCV000263653; RCV000355926; RCV000757748; RCV000118319; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745226160226160-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.684T>C (p.Asn228=)6389SDHABenign/Likely benign2115272RCV000162481; RCV000368927; RCV000311792; RCV000276689; RCV000757749; RCV000118320; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745228362228362-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.685G>A (p.Gly229Arg)6389SDHAnot provided41495051RCV000509324; RCV000509324; NMedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700055228363228363-C3150898 613642 Dilated cardiomyopathy 1GG;
NM_004168.3(SDHA):c.694C>T (p.Arg232Cys)6389SDHAUncertain significance878854635RCV000764603; RCV000764603; RCV000231015; RCV000764603; RCV000231015; RCV000764603; NMedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655228372228372-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.704T>C (p.Ile235Thr)6389SDHAUncertain significance144513891RCV000765825; RCV000562815; RCV000765825; RCV000203953; RCV000765825; RCV000203953; RCV000410184; RCV000765825; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5228382228382-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.723C>T (p.Asp241=)6389SDHAConflicting interpretations of pathogenicity146653693RCV000562470; RCV000381733; RCV000334152; RCV000457962; RCV000457962; RCV000275715; RCV000423425; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005228401228401-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.739A>G (p.Ile247Val)6389SDHAUncertain significance571292356RCV000765826; RCV000214276; RCV000765826; RCV000230633; RCV000765826; RCV000230633; RCV000663181; RCV000765826; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5228417228417-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.771-11A>G6389SDHABenign/Likely benign2288461RCV000492269; RCV000281527; RCV000375985; RCV000330761; RCV000245369; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745230980230980-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.812C>G (p.Thr271Ser)6389SDHAUncertain significance765611464RCV000765827; RCV000765827; RCV000463083; RCV000765827; RCV000463083; RCV000765827; NMedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655231032231032-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.822C>T (p.Gly274=)6389SDHABenign/Likely benign34771391RCV000570502; RCV000287211; RCV000210510; RCV000317795; RCV000210510; RCV000372488; RCV000426962; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005231042231042-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.830C>T (p.Thr277Met)6389SDHAUncertain significance367721665RCV000570331; RCV000283732; RCV000228322; RCV000396726; RCV000228322; RCV000411374; RCV000342145; RCV000208222; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; Hu5231050231050-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.891T>C (p.Pro297=)6389SDHABenign/Likely benign1126417RCV000162482; RCV000400279; RCV000347829; RCV000308030; RCV000757750; RCV000118321; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745231111231111-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.902A>G (p.Tyr301Cys)6389SDHAUncertain significance-1RCV000765828; RCV000765828; RCV000701878; RCV000765828; RCV000701878; RCV000765828; NMedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655233598233598-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.955A>C (p.Ile319Leu)6389SDHAUncertain significance377509915RCV000765829; RCV000565889; RCV000765829; RCV000462816; RCV000765829; RCV000462816; RCV000765829; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5233651233651-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.969C>T (p.Gly323=)6389SDHABenign/Likely benign142849100RCV000129664; RCV000362684; RCV000203785; RCV000314076; RCV000203785; RCV000399972; RCV000246464; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005233665233665-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.991G>A (p.Ala331Thr)6389SDHAUncertain significance200526913RCV000765830; RCV000567963; RCV000765830; RCV000239369; RCV000765830; RCV000239369; RCV000765830; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5233687233687-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.994C>T (p.Pro332Ser)6389SDHAUncertain significance373509391RCV000765831; RCV000564552; RCV000765831; RCV000549735; RCV000765831; RCV000549735; RCV000765831; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5233690233690-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)6389SDHABenign/Likely benign1041949RCV000162943; RCV000368680; RCV000274141; RCV000319420; RCV000756624; RCV000118311; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745233734233734-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1055G>A (p.Arg352Gln)6389SDHAUncertain significance199844384RCV000765832; RCV000563279; RCV000765832; RCV000463749; RCV000765832; RCV000411606; RCV000463749; RCV000765832; RCV000498298; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5233751233751-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1092C>T (p.Val364=)6389SDHAUncertain significance886060515RCV000316002; RCV000260734; RCV000355512; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005235286235286-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1150T>G (p.Ser384Ala)6389SDHAUncertain significance776888362RCV000765833; RCV000765833; RCV000528318; RCV000765833; RCV000528318; RCV000765833; NMedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655235344235344-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1170C>T (p.Phe390=)6389SDHABenign/Likely benign35277230RCV000163257; RCV000379943; RCV000321449; RCV000470511; RCV000470511; RCV000285173; RCV000118312; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005235364235364-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1305G>T (p.Leu435=)6389SDHABenign/Likely benign35964044RCV000565630; RCV000291485; RCV000210529; RCV000346462; RCV000210529; RCV000376037; RCV000242588; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005236587236587-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1462G>A (p.Ala488Thr)6389SDHAUncertain significance369100772RCV000562914; RCV000714730; RCV000468600; RCV000714731; RCV000468600; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240502240502-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1580G>A (p.Arg527His)6389SDHAUncertain significance766352407RCV000396802; RCV000287976; RCV000461471; RCV000461471; RCV000352061; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005251135251135-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1664-8G>A6389SDHABenign/Likely benign199790689RCV000312438; RCV000205034; RCV000396767; RCV000205034; RCV000367152; RCV000118313; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; Me5251445251445-C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)6389SDHABenign/Likely benign1139449RCV000162436; RCV000298674; RCV000398522; RCV000353507; RCV000756625; RCV000118314; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745251469251469-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)6389SDHABenign/Likely benign13070RCV000162485; RCV000268103; RCV000323384; RCV000359489; RCV000756626; RCV000118315; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745251541251541-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp)6389SDHAConflicting interpretations of pathogenicity200397144RCV000765834; RCV000163558; RCV000765834; RCV000464783; RCV000765834; RCV000148027; RCV000464783; RCV000765834; RCV000762143; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5251542251542OMIM Allelic Variant:600857.0009C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1776T>C (p.His592=)6389SDHABenign/Likely benign1126538RCV000130494; RCV000383884; RCV000205292; RCV000329216; RCV000205292; RCV000264789; RCV000243217; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005251565251565-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1794+105dup6389SDHAUncertain significance-1RCV000714539; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700055251688251688-
NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe)6389SDHABenign/Likely benign6960RCV000492773; RCV000389777; RCV000210491; RCV000270762; RCV000210491; RCV000325852; RCV000243534; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005254599254599UniProtKB (protein):P31040#VAR_071037C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1908+15C>T6389SDHABenign/Likely benign34504623RCV000385355; RCV000294605; RCV000349503; RCV000249299; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745254636254636-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1909-12_1909-11delCT6389SDHAConflicting interpretations of pathogenicity372662724RCV000492532; RCV000337728; RCV000281629; RCV000394391; RCV000483037; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745256437256438-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1911C>T (p.Val637=)6389SDHABenign/Likely benign11557098RCV000564874; RCV000343504; RCV000210496; RCV000402055; RCV000210496; RCV000298002; RCV000426571; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005256451256451-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1919A>G (p.Glu640Gly)6389SDHAUncertain significance372480044RCV000765835; RCV000574591; RCV000765835; RCV000239361; RCV000765835; RCV000239361; RCV000663177; RCV000765835; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me5256459256459-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1932G>A (p.Val644=)6389SDHABenign/Likely benign6961RCV000162483; RCV000273207; RCV000358445; RCV000303618; RCV000756627; RCV000118316; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745256472256472-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)6389SDHABenign/Likely benign6962RCV000162484; RCV000309260; RCV000269248; RCV000363917; RCV000756628; RCV000118317; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN1693745256509256509UniProtKB (protein):P31040#VAR_049217C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1973C>T (p.Pro658Leu)6389SDHAUncertain significance377632619RCV000765836; RCV000217918; RCV000388419; RCV000765836; RCV000275247; RCV000649461; RCV000765836; RCV000649461; RCV000765836; RCV000333745; NMedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C18555256513256513-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.*75A>G6389SDHAUncertain significance886060517RCV000375689; RCV000330444; RCV000279520; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256610256610-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*133G>C6389SDHAUncertain significance193112615RCV000285270; RCV000379866; RCV000334630; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256668256668-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*189C>T6389SDHAUncertain significance185107377RCV000340216; RCV000309761; RCV000396725; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256724256724-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.893C>G (p.Pro298Arg)6834SURF1Uncertain significance201822068RCV000631407; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218778136218778-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.883C>T (p.Arg295Cys)6834SURF1Benign/Likely benign147312193RCV000527909; RCV000586110; RCV000439404; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN1693749136218788136218788-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.879C>T (p.Phe293=)6834SURF1Likely benign145088629RCV000549524; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218792136218792-C0023264 256000 Leigh syndrome;
NM_003172.4(SURF1):c.833+1G>A6834SURF1Pathogenic-1RCV000735985; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218915136218915-
NM_003172.3(SURF1):c.809_826dup (p.Ile275_Val276insGluHisLeuGlnTyrIle)6834SURF1Uncertain significance-1RCV000689337; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218923136218940-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.814_815insGAGCATC (p.Leu272Argfs)6834SURF1Uncertain significance1554768224RCV000662036; RCV000662037; NMedGen:C4225246,OMIM:616684, Orphanet:ORPHA391351; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218934136218935-C4225246 616684 Charcot-Marie-Tooth disease, type 4k;
NM_003172.3(SURF1):c.808G>A (p.Glu270Lys)6834SURF1Uncertain significance781924765RCV000631404; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218941136218941-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.792_793delAG (p.Arg264Serfs)6834SURF1Pathogenic782490558RCV000534608; RCV000198901; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172029136218956136218957-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.772C>T (p.Pro258Ser)6834SURF1Pathogenic1053850536RCV000754102; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218977136218977-
NM_003172.3(SURF1):c.758_759delCA (p.Thr253Serfs)6834SURF1Pathogenic/Likely pathogenic782349178RCV000586290; RCV000413343; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172029136218990136218991-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.759dup (p.Val254Serfs)6834SURF1Likely pathogenic1554768246RCV000560693; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218990136218990-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs)6834SURF1Likely pathogenic782007828RCV000312508; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218994136218995-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.752-1G>C6834SURF1Pathogenic1391748504RCV000578241; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136218998136218998-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.752-4dup6834SURF1Uncertain significance1159512660RCV000631406; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136219001136219001-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.751+6T>C6834SURF1Benign41296099RCV000545893; RCV000427963; RCV000128343; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN1693749136219295136219295-C0023264 256000 Leigh syndrome;
NM_003172.2(SURF1):c.751C>T (p.Gln251Ter)6834SURF1Pathogenic121918657RCV000589222; RCV000013599; RCV000599426; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1850599; MedGen:CN5172029136219301136219301OMIM Allelic Variant:185620.0006
NM_003172.3(SURF1):c.745A>G (p.Asn249Asp)6834SURF1Conflicting interpretations of pathogenicity587669420RCV000699472; RCV000197757; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN1693749136219307136219307-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.736A>G (p.Ile246Val)6834SURF1Uncertain significance782480169RCV000631408; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136219316136219316-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.688C>T (p.Arg230Ter)6834SURF1Pathogenic782623477RCV000631405; RCV000321649; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172029136219364136219364-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.687T>C (p.Tyr229=)6834SURF1Likely benign373154583RCV000631413; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136219365136219365-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.643C>G (p.Pro215Ala)6834SURF1Uncertain significance147165855RCV000367139; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136219409136219409-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.631_632delGA (p.Glu211Asnfs)6834SURF1Likely pathogenic1554768333RCV000587221; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136219420136219421-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.604G>C (p.Asp202His)6834SURF1Benign/Likely benign72619327RCV000394086; RCV000128342; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN1693749136219448136219448UniProtKB (protein):Q15526#VAR_007451C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.603G>A (p.Val201=)6834SURF1Likely benign782635006RCV000631412; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136219449136219449-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.588+1G>A6834SURF1not provided1219762677RCV000662348; RCV000662348; NMedGen:C4225246,OMIM:616684, Orphanet:ORPHA391351; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136219548136219548-C4225246 616684 Charcot-Marie-Tooth disease, type 4k;
NM_003172.3(SURF1):c.586C>T (p.Gln196Ter)6834SURF1Pathogenic/Likely pathogenic147816470RCV000235079; RCV000578885; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172029136219551136219551-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.574C>T (p.Arg192Trp)6834SURF1Pathogenic782190413RCV000202523; RCV000631410; RCV000199387; NMedGen:C4225246,OMIM:616684, Orphanet:ORPHA391351; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172029136219563136219563OMIM Allelic Variant:185620.0017,UniProtKB (protein):Q15526#VAR_076315C4225246 616684 Charcot-Marie-Tooth disease, type 4k;
NM_003172.3(SURF1):c.573C>G (p.Thr191=)6834SURF1Benign/Likely benign28715079RCV000298807; RCV000676733; RCV000128341; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN1693749136219564136219564-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.543C>T (p.Phe181=)6834SURF1Benign/Likely benign62637580RCV000353708; RCV000590784; RCV000196556; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN1693749136219594136219594-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.532A>T (p.Asn178Tyr)6834SURF1Pathogenic587753385RCV000754103; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136219605136219605-
NM_003172.3(SURF1):c.465_466delAA (p.Thr156Serfs)6834SURF1Pathogenic-1RCV000754104; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136220653136220654-
NM_003172.3(SURF1):c.366C>T (p.Val122=)6834SURF1Uncertain significance886063630RCV000268062; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136220753136220753-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.352A>T (p.Arg118Trp)6834SURF1Uncertain significance201492662RCV000323407; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136220767136220767-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.350A>C (p.Tyr117Ser)6834SURF1Uncertain significance145615218RCV000631403; RCV000224641; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172029136220769136220769-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.324-10_324-9insAGA6834SURF1Uncertain significance1299986010RCV000631411; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136220804136220805-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.312_321delTCTGCCAGCCinsAT (p.Leu105Terfs)6834SURF1Pathogenic863224228RCV000763191; RCV000235063; RCV000763191; RCV000197023; NMedGen:C4225246,OMIM:616684, Orphanet:ORPHA391351; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172029136221516136221525-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.303G>A (p.Glu101=)6834SURF1Likely benign1554768670RCV000554402; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136221534136221534-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.280T>C (p.Leu94=)6834SURF1Benign/Likely benign28615629RCV000359434; RCV000676734; RCV000128340; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN1693749136221557136221557-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.211G>C (p.Val71Leu)6834SURF1Conflicting interpretations of pathogenicity147993882RCV000264670; RCV000507001; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN1693749136221708136221708-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.185T>G (p.Leu62Arg)6834SURF1Uncertain significance-1RCV000704099; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136221734136221734-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.167C>G (p.Ala56Gly)6834SURF1Benign116779216RCV000524669; RCV000424363; RCV000128339; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN1693749136221752136221752UniProtKB (protein):Q15526#VAR_068648C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.118A>T (p.Arg40Trp)6834SURF1Uncertain significance781831910RCV000555174; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136221801136221801-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.106+1G>C6834SURF1Likely pathogenic863224926RCV000196131; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136223123136223123-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.54+9_54+22delCGGGTGCGGGGTGC6834SURF1Likely benign782659731RCV000531800; RCV000483880; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN1693749136223254136223267-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.54+10G>A6834SURF1Conflicting interpretations of pathogenicity587598397RCV000329138; RCV000676736; RCV000128346; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN1693749136223266136223266-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.54+9C>G6834SURF1Conflicting interpretations of pathogenicity587675928RCV000383935; RCV000128345; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN1693749136223267136223267-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.32_38dup (p.Leu16Glyfs)6834SURF1Pathogenic1410388157RCV000543189; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700059136223292136223298-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.-11_13del246834SURF1Pathogenic863224229RCV000258857; RCV000199102; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN5172029136223317136223340-C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.-37C>T6834SURF1Benign523304RCV000286961; RCV000128344; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN1693749136223366136223366-C0023264 256000 Leigh syndrome;
NM_016589.3(TIMMDC1):c.673C>T (p.Arg225Ter)51300TIMMDC1Uncertain significance149481081RCV000735814; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700053119236128119236128-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000074582 MSeqDR Search EnsemblBCS1L1016BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]00015
ENSG00000006695 MSeqDR Search EnsemblCOX101057cytochrome c oxidase assembly homolog 10 (yeast) [Source:HGNC Symbol;Acc:2260]00015
ENSG00000014919 MSeqDR Search EnsemblCOX15102cytochrome c oxidase assembly homolog 15 (yeast) [Source:HGNC Symbol;Acc:2263]00015
ENSG00000110074 MSeqDR Search EnsemblFOXRED1104FAD-dependent oxidoreductase domain containing 1 [Source:HGNC Symbol;Acc:26927]00015
ENSG00000198899 MSeqDR Search EnsemblMT-ATP6178mitochondrially encoded ATP synthase 6 [Source:HGNC Symbol;Acc:7414]00015
ENSG00000210156 MSeqDR Search EnsemblMT-TK132mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]00015
ENSG00000210077 MSeqDR Search EnsemblMT-TV132mitochondrially encoded tRNA valine [Source:HGNC Symbol;Acc:7500]00015
ENSG00000210117 MSeqDR Search EnsemblMT-TW143mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501]00015
ENSG00000130414 MSeqDR Search EnsemblNDUFA101064NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa [Source:HGNC Symbol;Acc:7684]00015
ENSG00000184752 MSeqDR Search EnsemblNDUFA12100NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 [Source:HGNC Symbol;Acc:23987]00015
ENSG00000131495 MSeqDR Search EnsemblNDUFA2100NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa [Source:HGNC Symbol;Acc:7685]00015
ENSG00000139180 MSeqDR Search EnsemblNDUFA9100NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa [Source:HGNC Symbol;Acc:7693]00015
ENSG00000164182 MSeqDR Search EnsemblNDUFAF21012NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]00015
ENSG00000156170 MSeqDR Search EnsemblNDUFAF6101NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 [Source:HGNC Symbol;Acc:28625]00015
ENSG00000213619 MSeqDR Search EnsemblNDUFS31013NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]00015
ENSG00000164258 MSeqDR Search EnsemblNDUFS41017NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]00015
ENSG00000115286 MSeqDR Search EnsemblNDUFS71011NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7714]00015
ENSG00000110717 MSeqDR Search EnsemblNDUFS81021NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7715]00015
ENSG00000073578 MSeqDR Search EnsemblSDHA1163succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [Source:HGNC Symbol;Acc:10680]00015
ENSG00000260692 MSeqDR Search EnsemblSURF11049surfeit 1 [Source:HGNC Symbol;Acc:11474]00015

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