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
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Mitochondrial Diseases (D028361)
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Mitochondrial complex I deficiency (C537475)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)  LSDB  L: 00014;
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)  LSDB  L: 00525;
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandLIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)  LSDB  L: 00024;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)  LSDB  L: 00025;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)  LSDB  L: 00010;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00013; 00043; 00530;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1 L: 00035;
..expandNoninsulin-dependent diabetes mellitus with deafness (C536246)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8082
Name:Mitochondrial complex I deficiency
Definition:
Alternative IDs:DO:DOID:0060536|OMIM:252010
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/C537475
Synonyms:MC1DN1 |MITOCHONDRIAL COMPLEX I DEFICIENCY |MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 |Mitochondrial NADH dehydrogenase component of complex I, deficiency of |Nadh-Coenzyme Q Reductase Deficiency |NADH coenzyme q reductase deficiency |NADH:Q(1) Oxidor
Slim Mappings:Metabolic disease
Reference: MedGen: C537475
MeSH: C537475
OMIM: 252010;
MSeqDR LSDB: 00011;  
Genes: FOXRED1; NDUFA1; NDUFA11; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF4; NDUFAF5; NDUFB3; NDUFB9; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS6; NDUFV1; NDUFV2; NUBPL;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001423X-linked dominant inheritance
3 HP:0001427Mitochondrial inheritance
4 HP:0008316Abnormal mitochondria in muscle tissue
5 HP:0006965Acute necrotizing encephalopathy
6 HP:0001251Ataxia
7 HP:0003487Babinski sign
8 HP:0000618Blindness
9 HP:0001272Cerebellar atrophy
10 HP:0002181Cerebral edema
11 HP:0001259Coma
12 HP:0002376Developmental regression
13 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
14 HP:0001508Failure to thrive
15 HP:0008872Feeding difficulties in infancy
16 HP:0001290Generalized hypotonia
17 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
18 HP:0001263Global developmental delay
NAMDC:  Mental retardation
19 HP:0001510Growth delay
NAMDC:  Growth delay
20 HP:0001399Hepatic failure
21 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
22 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
23 HP:0001943Hypoglycemia
24 HP:0001265Hyporeflexia
25 HP:0002490Increased CSF lactate
26 HP:0003128Lactic acidosis
27 HP:0001254Lethargy
28 HP:0002415Leukodystrophy
29 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
30 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
31 HP:0000639Nystagmus
32 HP:0000543Optic disc pallor
33 HP:0003812Phenotypic variability
34 HP:0004481Progressive macrocephaly
35 HP:0000508Ptosis
NAMDC:  Ptosis
36 HP:0002878Respiratory failure
37 HP:0002093Respiratory insufficiency
38 HP:0001250Seizures
NAMDC:  Seizures
39 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
40 HP:0003202Skeletal muscle atrophy
41 HP:0001257Spasticity
NAMDC:  Spasticity
42 HP:0000486Strabismus
43 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)-1ERCC8;NDUFAF2Benignrs158921RCV000117705|RCV000278856|RCV000290995|RCV000348449|RCV000676954|RCV001778734; NMedGen:CN169374|MONDO:MONDO:0016006,MedGen:C0009207, Orphanet:191|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:61823356024114260241142GA5:g.60241142G>AClinGen:CA153853C0009207 Cockayne syndrome;
NM_017547.3(FOXRED1):c.-163G>C55572FOXRED1Conflicting interpretations of pathogenicityrs552937899RCV000290769|RCV001540172; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126138939126138939GCNC_000011.9:g.126138939G>CClinGen:CA6353868C1838979 252010 Mitochondrial complex I deficiency;
NC_000011.10:g.126269056C>A55572FOXRED1Uncertain significancers546439717RCV001107654; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126138951126138951CA11:g.126138951C>A-
NM_017547.4(FOXRED1):c.-31A>G55572FOXRED1Conflicting interpretations of pathogenicityrs368307265RCV000196717|RCV000327076; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126139071126139071AGNC_000011.9:g.126139071A>GClinGen:CA321140C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.-2T>C55572FOXRED1Benignrs1786702RCV000381743|RCV000676596|RCV001701845; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032624,MedGen:C4748791,OMIM:61824111126139100126139100TCNC_000011.9:g.126139100T>CClinGen:CA6353909C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=)55572FOXRED1Conflicting interpretations of pathogenicityrs28372779RCV000125154|RCV000286921|RCV000726563; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126139110126139110GANC_000011.9:g.126139110G>AClinGen:CA290960C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly)55572FOXRED1Uncertain significancers149883459RCV000341838|RCV001837745; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126139111126139111AGNC_000011.9:g.126139111A>GClinGen:CA323083C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro)55572FOXRED1Uncertain significancers375454069RCV000391454; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126139136126139136GCNC_000011.9:g.126139136G>CClinGen:CA6353924C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln)55572FOXRED1Conflicting interpretations of pathogenicityrs148346044RCV000195295|RCV000283856|RCV000873772; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126141370126141370AC11:g.126141370A>CClinGen:CA231125C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=)55572FOXRED1Uncertain significancers749675822RCV000338795|RCV001859801; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126141438126141438GANC_000011.9:g.126141438G>AClinGen:CA6353999C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln)55572FOXRED1Uncertain significancers768102112RCV000391412; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126141542126141542GANC_000011.9:g.126141542G>AClinGen:CA6354024C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met)55572FOXRED1Conflicting interpretations of pathogenicityrs77785510RCV000298953|RCV000875510; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126141551126141551CTNC_000011.9:g.126141551C>TClinGen:CA321386C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.307-14T>C55572FOXRED1Conflicting interpretations of pathogenicityrs541684918RCV000602580|RCV001104334; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126142850126142850TC11:g.126142850T>CClinGen:CA6354042CN169374 not specified;
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=)55572FOXRED1Uncertain significancers1951030849RCV001104335; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126142875126142875CT11:g.126142875C>T-
NM_017547.4(FOXRED1):c.417+6T>C55572FOXRED1Uncertain significancers1951035111RCV001104336; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126142980126142980TC11:g.126142980T>C-
NM_017547.4(FOXRED1):c.417+10A>G55572FOXRED1Conflicting interpretations of pathogenicityrs180800246RCV000873631|RCV001104337; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126142984126142984AG11:g.126142984A>G-
NM_017547.4(FOXRED1):c.418-1G>T55572FOXRED1Uncertain significancers771941278RCV000779052; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126143230126143230GTNC_000011.9:g.126143230G>T-
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile)55572FOXRED1Conflicting interpretations of pathogenicityrs34542988RCV000125153|RCV000353768|RCV000676597; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126143246126143246GANC_000011.9:g.126143246G>AClinGen:CA290958,UniProtKB:Q96CU9#VAR_033856C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.435C>T (p.Val145=)55572FOXRED1Conflicting interpretations of pathogenicityrs147235743RCV000200296|RCV000405671|RCV000873859; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126143248126143248CTNC_000011.9:g.126143248C>TClinGen:CA324846C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp)55572FOXRED1Uncertain significancers140745629RCV001104338; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126143270126143270CT11:g.126143270C>T-
NM_017547.4(FOXRED1):c.537-11G>A55572FOXRED1Conflicting interpretations of pathogenicityrs199599636RCV000614185|RCV001107092|RCV002063291; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126144811126144811GA11:g.126144811G>AClinGen:CA6354126CN169374 not specified;
NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg)55572FOXRED1Uncertain significancers368843227RCV001107093|RCV001856435; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126144836126144836AG11:g.126144836A>G-
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp)55572FOXRED1Uncertain significancers191604046RCV000314230; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126144865126144865CTNC_000011.9:g.126144865C>TClinGen:CA6354135C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)55572FOXRED1Conflicting interpretations of pathogenicityrs398124308RCV000081797|RCV000190588|RCV000586362|RCV000778312|RCV001197098; NMedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032624,MedGen:C4748791,OMIM:61824111126144895126144896GGGAGT11:g.126144895_126144896insGAGTClinGen:CA204560C0023264 256000 Leigh syndrome;
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser)55572FOXRED1Uncertain significancers753106152RCV000366903; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126145248126145248CTNC_000011.9:g.126145248C>TClinGen:CA6354170C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu)55572FOXRED1Uncertain significancers755831680RCV000272284; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126145252126145252GTNC_000011.9:g.126145252G>TClinGen:CA10634102C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)55572FOXRED1Conflicting interpretations of pathogenicityrs146661281RCV000514034|RCV000763713; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126145709126145709CT11:g.126145709C>TClinGen:CA6354204CN517202 not provided;
NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly)55572FOXRED1Uncertain significancers886047981RCV000308619; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126145976126145976AG11:g.126145976A>GClinGen:CA10638427C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr)55572FOXRED1Uncertain significancers148955548RCV000363274; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126146000126146000TC11:g.126146000T>CClinGen:CA10630351C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val)55572FOXRED1Uncertain significancers886047982RCV000268896; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126146030126146030CT11:g.126146030C>TClinGen:CA10630352C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=)55572FOXRED1Uncertain significancers777315728RCV000324058; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126146064126146064GANC_000011.9:g.126146064G>AClinGen:CA6354266C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser)55572FOXRED1Uncertain significancers748195712RCV000378520; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126146095126146095CT11:g.126146095C>TClinGen:CA6354273C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=)55572FOXRED1Conflicting interpretations of pathogenicityrs143739550RCV000125155|RCV000265385|RCV000874958; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126146337126146337GCNC_000011.9:g.126146337G>CClinGen:CA290962C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val)55572FOXRED1Uncertain significancers139029287RCV001107763; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126146985126146985CT11:g.126146985C>T-
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp)55572FOXRED1Uncertain significancers751634994RCV000320572; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147002126147002CG11:g.126147002C>GClinGen:CA6354381C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg)55572FOXRED1Conflicting interpretations of pathogenicityrs7116126RCV000125156|RCV000375172|RCV000676598; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126147003126147003AGNC_000011.9:g.126147003A>GClinGen:CA290964,UniProtKB:Q96CU9#VAR_051003C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=)55572FOXRED1Uncertain significancers560953332RCV001107764; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147031126147031CT11:g.126147031C>T-
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)55572FOXRED1Conflicting interpretations of pathogenicityrs138061928RCV000199891|RCV000763714|RCV001107765; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147035126147035TGNC_000011.9:g.126147035T>GClinGen:CA324443CN169374 not specified;
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe)55572FOXRED1Uncertain significancers767749700RCV000280779|RCV000678791|RCV001859802; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:11126147047126147047GT11:g.126147047G>TClinGen:CA6354390C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser)55572FOXRED1Uncertain significancers1036245067RCV001104117; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147348126147348GA11:g.126147348G>A-
NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly)55572FOXRED1Uncertain significancers139086727RCV000591557|RCV001104118; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147501126147501AG11:g.126147501A>GClinGen:CA6354452CN169374 not specified;
NM_017547.4(FOXRED1):c.*71A>G55572FOXRED1Uncertain significancers763886127RCV001104119; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147655126147655AG11:g.126147655A>G-
NM_017547.4(FOXRED1):c.*85T>C55572FOXRED1Conflicting interpretations of pathogenicityrs372575072RCV000335841|RCV001566519; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126147669126147669TC11:g.126147669T>CClinGen:CA6354487C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*93G>A55572FOXRED1Likely benignrs114082966RCV001104120|RCV001585981; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126147677126147677GA11:g.126147677G>A-
NM_017547.4(FOXRED1):c.*113G>A55572FOXRED1Benignrs667627RCV000371864|RCV001612955; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126147697126147697GA11:g.126147697G>AClinGen:CA6354498C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*129C>G55572FOXRED1Benignrs594318RCV000295162|RCV001711903; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126147713126147713CG11:g.126147713C>GClinGen:CA6354500C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*159C>T55572FOXRED1Uncertain significancers570233921RCV000352350; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147743126147743CT11:g.126147743C>TClinGen:CA6354504C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*190T>C55572FOXRED1Benign/Likely benignrs77902129RCV000392587|RCV001725159; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126147774126147774TCNC_000011.9:g.126147774T>CClinGen:CA6354512C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*211T>C55572FOXRED1Uncertain significancers1245337651RCV001104427; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147795126147795TC11:g.126147795T>C-
NM_017547.4(FOXRED1):c.*374T>G55572FOXRED1Uncertain significancers576196293RCV001104428; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147958126147958TG11:g.126147958T>G-
NM_017547.4(FOXRED1):c.*392G>A55572FOXRED1Uncertain significancers886047983RCV000312592; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147976126147976GANC_000011.9:g.126147976G>AClinGen:CA10634103C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*432T>G55572FOXRED1Uncertain significancers185024577RCV000346441; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126148016126148016TGNC_000011.9:g.126148016T>GClinGen:CA6354523C1838979 252010 Mitochondrial complex I deficiency;
NM_024407.5(NDUFS7):c.*13C>A-1GAMT;NDUFS7Benign/Likely benignrs11551663RCV000127159|RCV000335492|RCV000345055|RCV000390875|RCV001126906; NMedGen:CN169374|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913955001395500CANC_000019.9:g.1395500C>AClinGen:CA292508C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_004544.4(NDUFA10):c.*3724G>A4705NDUFA10Uncertain significancers1694684016RCV001139463|RCV001139464; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240896811240896811CT2:g.240896811C>T-
NM_004544.4(NDUFA10):c.*3711A>G4705NDUFA10Uncertain significancers1466622883RCV001139465|RCV001139466; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240896824240896824TC2:g.240896824T>C-
NM_004544.4(NDUFA10):c.*3557G>A4705NDUFA10Uncertain significancers149933652RCV000282070|RCV000334827; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240896978240896978CTNC_000002.11:g.240896978C>TClinGen:CA10613222C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3544C>T4705NDUFA10Benign/Likely benignrs114944621RCV001140237|RCV001140238; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240896991240896991GA2:g.240896991G>A-
NM_004544.4(NDUFA10):c.*3490G>C4705NDUFA10Uncertain significancers1694693520RCV001140239|RCV001140240; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897045240897045CG2:g.240897045C>G-
NM_004544.4(NDUFA10):c.*3456T>G4705NDUFA10Uncertain significancers1694694826RCV001140241|RCV001140242; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897079240897079AC2:g.240897079A>C-
NM_004544.4(NDUFA10):c.*3450G>A4705NDUFA10Benignrs7573892RCV000313749|RCV000407125; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897085240897085CTNC_000002.11:g.240897085C>TClinGen:CA10612853C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3409G>A4705NDUFA10Uncertain significancers146483651RCV001142083|RCV001142082; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897126240897126CT2:g.240897126C>T-
NM_004544.4(NDUFA10):c.*3408T>C4705NDUFA10Uncertain significancers886055810RCV000370283|RCV000405985; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897127240897127AGNC_000002.11:g.240897127A>GClinGen:CA10614904C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3403A>G4705NDUFA10Uncertain significancers1574807018RCV001137325|RCV001137326; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897132240897132TC2:g.240897132T>C-
NM_004544.4(NDUFA10):c.*3349G>A4705NDUFA10Benign/Likely benignrs77216981RCV000312144|RCV000364536; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897186240897186CTNC_000002.11:g.240897186C>TClinGen:CA10612854C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3347C>T4705NDUFA10Uncertain significancers537694779RCV001137328|RCV001137327; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897188240897188GA2:g.240897188G>A-
NM_004544.4(NDUFA10):c.*3301C>T4705NDUFA10Uncertain significancers1694700570RCV001137330|RCV001137329; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897234240897234GA2:g.240897234G>A-
NM_004544.4(NDUFA10):c.*3205G>A4705NDUFA10Uncertain significancers886055811RCV000272597|RCV000325291; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897330240897330CTNC_000002.11:g.240897330C>TClinGen:CA10613224C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3204C>T4705NDUFA10Benignrs34277046RCV000266639|RCV000363605; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897331240897331GANC_000002.11:g.240897331G>AClinGen:CA10613230C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3175T>G4705NDUFA10Uncertain significancers1694704488RCV001139560|RCV001139559; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897360240897360AC2:g.240897360A>C-
NM_004544.4(NDUFA10):c.*3143C>T4705NDUFA10Uncertain significancers1357789210RCV001139562|RCV001139561; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897392240897392GA2:g.240897392G>A-
NM_004544.4(NDUFA10):c.*3141C>T4705NDUFA10Uncertain significancers144864637RCV000321071|RCV000378087; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897394240897394GANC_000002.11:g.240897394G>AClinGen:CA10613239C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3113G>A4705NDUFA10Uncertain significancers886055812RCV000281251|RCV000319847; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897422240897422CT2:g.240897422C>TClinGen:CA10613244C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3098A>T4705NDUFA10Uncertain significancers886055813RCV000279849|RCV000372049; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897437240897437TA2:g.240897437T>AClinGen:CA10614704C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3095A>G4705NDUFA10Uncertain significancers576198967RCV001140328|RCV001140329; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897440240897440TC2:g.240897440T>C-
NM_004544.4(NDUFA10):c.*3075T>G4705NDUFA10Benign/Likely benignrs7588974RCV000351219|RCV000408158; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897460240897460AC2:g.240897460A>CClinGen:CA10614905C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3067C>T4705NDUFA10Uncertain significancers564992184RCV000293130|RCV000350383; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897468240897468GA2:g.240897468G>AClinGen:CA10612855C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3052G>A4705NDUFA10Uncertain significancers1003876097RCV001142176|RCV001142177; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897483240897483CT2:g.240897483C>T-
NM_004544.4(NDUFA10):c.*3009T>C4705NDUFA10Uncertain significancers1694711139RCV001142178|RCV001142179; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897526240897526AG2:g.240897526A>G-
NM_004544.4(NDUFA10):c.*2997G>A4705NDUFA10Uncertain significancers886055814RCV000310655|RCV000408151; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897538240897538CT2:g.240897538C>TClinGen:CA10614906C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2900G>A4705NDUFA10Uncertain significancers752124492RCV001137438|RCV001137439; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897635240897635CT2:g.240897635C>T-
NM_004544.4(NDUFA10):c.*2838C>A4705NDUFA10Uncertain significancers532456176RCV001137440|RCV001137441; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897697240897697GT2:g.240897697G>T-
NM_004544.4(NDUFA10):c.*2685C>A4705NDUFA10Uncertain significancers114807372RCV000363196|RCV000403818; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897850240897850GT2:g.240897850G>TClinGen:CA10613246C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2659A>C4705NDUFA10Uncertain significancers559550890RCV001139658|RCV001139659; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897876240897876TG2:g.240897876T>G-
NM_004544.4(NDUFA10):c.*2649G>A4705NDUFA10Uncertain significancers886055815RCV000305026|RCV000362023; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897886240897886CT2:g.240897886C>TClinGen:CA10612857C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2648C>T4705NDUFA10Uncertain significancers953906857RCV001139660|RCV001139661; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897887240897887GA2:g.240897887G>A-
NM_004544.4(NDUFA10):c.*2602C>T4705NDUFA10Benignrs58261980RCV000263944|RCV000321470; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897933240897933GA2:g.240897933G>AClinGen:CA10614926C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2511C>T4705NDUFA10Benign/Likely benignrs74540213RCV001140420|RCV001140421; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898024240898024GA2:g.240898024G>A-
NM_004544.4(NDUFA10):c.*2495C>T4705NDUFA10Benign/Likely benignrs78395168RCV000263762|RCV000355304; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898040240898040GA2:g.240898040G>AClinGen:CA10613250C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2455C>G4705NDUFA10Uncertain significancers756778773RCV001140423|RCV001140422; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898080240898080GC2:g.240898080G>C-
NM_004544.4(NDUFA10):c.*2382C>A4705NDUFA10Uncertain significancers1289543938RCV001140424|RCV001140425; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898153240898153GT2:g.240898153G>T-
NM_004544.4(NDUFA10):c.*2350G>A4705NDUFA10Uncertain significancers1218747092RCV001142283|RCV001142284; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898185240898185CT2:g.240898185C>T-
NM_004544.4(NDUFA10):c.*2309G>A4705NDUFA10Benignrs1132778RCV000276578|RCV000334028|RCV001636938; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240898226240898226CT2:g.240898226C>TClinGen:CA10614930C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2297T>G4705NDUFA10Uncertain significancers773090030RCV000294050|RCV000386093; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898238240898238AC2:g.240898238A>CClinGen:CA10613251C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2242T>C4705NDUFA10Uncertain significancers111969519RCV001142286|RCV001142285; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898293240898293AG2:g.240898293A>G-
NM_004544.4(NDUFA10):c.*2202C>T4705NDUFA10Benign/Likely benignrs77614498RCV001137543|RCV001137544; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898333240898333GA2:g.240898333G>A-
NM_004544.4(NDUFA10):c.*2192T>A4705NDUFA10Uncertain significancers886055817RCV000346747|RCV000384939; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898343240898343AT2:g.240898343A>TClinGen:CA10612858C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2149C>T4705NDUFA10Uncertain significancers570872300RCV000288049|RCV000345362; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898386240898386GA2:g.240898386G>AClinGen:CA10614932C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2136T>C4705NDUFA10Uncertain significancers943989946RCV001137545|RCV001137546; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898399240898399AG2:g.240898399A>G-
NM_004544.4(NDUFA10):c.*2133A>G4705NDUFA10Conflicting interpretations of pathogenicityrs6736791RCV001139764|RCV001139765; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898402240898402TC2:g.240898402T>C-
NM_004544.4(NDUFA10):c.*2111G>A4705NDUFA10Uncertain significancers752139055RCV000305816|RCV000392087; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898424240898424CT2:g.240898424C>TClinGen:CA10612861C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2079A>G4705NDUFA10Uncertain significancers1574808891RCV001139766|RCV001139767; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898456240898456TC2:g.240898456T>C-
NM_004544.4(NDUFA10):c.*2046T>C4705NDUFA10Uncertain significancers1694740787RCV001139769|RCV001139768; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898489240898489AG2:g.240898489A>G-
NM_004544.4(NDUFA10):c.*2042A>C4705NDUFA10Uncertain significancers886055818RCV000340471|RCV000405302; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898493240898493TG2:g.240898493T>GClinGen:CA10614936C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2009G>C4705NDUFA10Uncertain significancers370309206RCV001140535|RCV001140536; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898526240898526CG2:g.240898526C>G-
NM_004544.4(NDUFA10):c.*1992C>T4705NDUFA10Uncertain significancers373034894RCV001140537|RCV001140538; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898543240898543GA2:g.240898543G>A-
NM_004544.4(NDUFA10):c.*1957G>A4705NDUFA10Benignrs4854069RCV000300653|RCV000353226|RCV001709606; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240898578240898578CTNC_000002.11:g.240898578C>TClinGen:CA10614942C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1943A>G4705NDUFA10Uncertain significancers148829605RCV001142383|RCV001142382; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898592240898592TC2:g.240898592T>C-
NM_004544.4(NDUFA10):c.*1930C>G4705NDUFA10Conflicting interpretations of pathogenicityrs535714073RCV001142385|RCV001142384; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898605240898605GC2:g.240898605G>C-
NM_004544.4(NDUFA10):c.*1927G>C4705NDUFA10Uncertain significancers1227609332RCV001142386|RCV001142387; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898608240898608CG2:g.240898608C>G-
NM_004544.4(NDUFA10):c.*1915G>A4705NDUFA10Uncertain significancers144590599RCV000273905|RCV000370813; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898620240898620CTNC_000002.11:g.240898620C>TClinGen:CA10614713C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1884G>C4705NDUFA10Uncertain significancers886055820RCV000272672|RCV000325365; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898651240898651CGNC_000002.11:g.240898651C>GClinGen:CA10614953C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1879G>A4705NDUFA10Uncertain significancers143421241RCV001137641|RCV001137642; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898656240898656CT2:g.240898656C>T-
NM_004544.4(NDUFA10):c.*1878C>T4705NDUFA10Benign/Likely benignrs80067639RCV001137643|RCV001137644|RCV001785787; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240898657240898657GA2:g.240898657G>A-
NM_004544.4(NDUFA10):c.*1709T>C4705NDUFA10Uncertain significancers562457080RCV001139860|RCV001139859; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898826240898826AG2:g.240898826A>G-
NM_004544.4(NDUFA10):c.*1702G>A4705NDUFA10Uncertain significancers1694755462RCV001139862|RCV001139861; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898833240898833CT2:g.240898833C>T-
NM_004544.4(NDUFA10):c.*1665C>A4705NDUFA10Uncertain significancers1314058965RCV001139863|RCV001139864; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898870240898870GT2:g.240898870G>T-
NM_004544.4(NDUFA10):c.*1594G>A4705NDUFA10Uncertain significancers773071160RCV001139865|RCV001139866; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898941240898941CT2:g.240898941C>T-
NM_004544.4(NDUFA10):c.*1586A>G4705NDUFA10Uncertain significancers1483288404RCV001140643|RCV001140644; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898949240898949TC2:g.240898949T>C-
NM_004544.4(NDUFA10):c.*1486C>T4705NDUFA10Uncertain significancers746931112RCV001140646|RCV001140645; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899049240899049GA2:g.240899049G>A-
NM_004544.4(NDUFA10):c.*1482C>G4705NDUFA10Uncertain significancers557576958RCV001140648|RCV001140647; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899053240899053GC2:g.240899053G>C-
NM_004544.4(NDUFA10):c.*1453G>A4705NDUFA10Conflicting interpretations of pathogenicityrs192964209RCV001140649|RCV001140650; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899082240899082CT2:g.240899082C>T-
NM_004544.4(NDUFA10):c.*1391C>T4705NDUFA10Uncertain significancers552149779RCV001142515|RCV001142516; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899144240899144GA2:g.240899144G>A-
NM_004544.4(NDUFA10):c.*1382C>T4705NDUFA10Benign/Likely benignrs111337344RCV001142517|RCV001142518; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899153240899153GA2:g.240899153G>A-
NM_004544.4(NDUFA10):c.*1303C>T4705NDUFA10Uncertain significancers575940810RCV001142520|RCV001142519; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899232240899232GA2:g.240899232G>A-
NM_004544.4(NDUFA10):c.*1262C>T4705NDUFA10Uncertain significancers759194775RCV000285514|RCV000382246; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899273240899273GANC_000002.11:g.240899273G>AClinGen:CA10612863C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1245G>A4705NDUFA10Uncertain significancers187916829RCV001137751|RCV001137752; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899290240899290CT2:g.240899290C>T-
NM_004544.4(NDUFA10):c.*1229C>G4705NDUFA10Benignrs55998047RCV000342719|RCV000376401; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899306240899306GCNC_000002.11:g.240899306G>CClinGen:CA10613252C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1217A>G4705NDUFA10Benign/Likely benignrs116403651RCV001137754|RCV001137753; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899318240899318TC2:g.240899318T>C-
NM_004544.4(NDUFA10):c.*1214C>T4705NDUFA10Uncertain significancers546735567RCV000284687|RCV000337345; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899321240899321GANC_000002.11:g.240899321G>AClinGen:CA10613256C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1212T>C4705NDUFA10Uncertain significancers886055821RCV000297697|RCV000407435; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899323240899323AGNC_000002.11:g.240899323A>GClinGen:CA10613258C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1206G>A4705NDUFA10Uncertain significancers192203978RCV001139992|RCV001139991; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899329240899329CT2:g.240899329C>T-
NM_004544.4(NDUFA10):c.*1198G>A4705NDUFA10Uncertain significancers143353868RCV001139994|RCV001139993; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899337240899337CT2:g.240899337C>T-
NM_004544.4(NDUFA10):c.*1189C>T4705NDUFA10Benignrs66534347RCV000336034|RCV000407422; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899346240899346GANC_000002.11:g.240899346G>AClinGen:CA10613259C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1161C>T4705NDUFA10Uncertain significancers184925264RCV001140748|RCV001140749; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899374240899374GA2:g.240899374G>A-
NM_004544.4(NDUFA10):c.*1129G>A4705NDUFA10Uncertain significancers886055822RCV000315183|RCV000367481; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899406240899406CTNC_000002.11:g.240899406C>TClinGen:CA10613260C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1124C>T4705NDUFA10Uncertain significancers754187471RCV001140750|RCV001140751; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899411240899411GA2:g.240899411G>A-
NM_004544.4(NDUFA10):c.*1057T>G4705NDUFA10Uncertain significancers541016943RCV001140753|RCV001140752; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899478240899478AC2:g.240899478A>C-
NM_004544.4(NDUFA10):c.*1047T>C4705NDUFA10Uncertain significancers1694787943RCV001142614|RCV001142615; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899488240899488AG2:g.240899488A>G-
NM_004544.4(NDUFA10):c.*1011A>G4705NDUFA10Uncertain significancers575477219RCV000275465|RCV000309561; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899524240899524TCNC_000002.11:g.240899524T>CClinGen:CA10613265C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*925C>G4705NDUFA10Uncertain significancers149563558RCV000269623|RCV000366444; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899610240899610GCNC_000002.11:g.240899610G>CClinGen:CA10613267C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*861C>G4705NDUFA10Uncertain significancers551167199RCV001142617|RCV001142616; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899674240899674GC2:g.240899674G>C-
NM_004544.4(NDUFA10):c.*857G>C4705NDUFA10Uncertain significancers1303822860RCV001137858|RCV001137859; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899678240899678CG2:g.240899678C>G-
NM_004544.4(NDUFA10):c.*804T>C4705NDUFA10Uncertain significancers1422021026RCV001137860|RCV001137861; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899731240899731AG2:g.240899731A>G-
NM_004544.4(NDUFA10):c.*765C>T4705NDUFA10Uncertain significancers144208727RCV001137863|RCV001137862; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899770240899770GA2:g.240899770G>A-
NM_004544.4(NDUFA10):c.*740C>T4705NDUFA10Uncertain significancers886055823RCV000327138|RCV000360871; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899795240899795GANC_000002.11:g.240899795G>AClinGen:CA10613269C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*732T>G4705NDUFA10Uncertain significancers1349086163RCV001140107|RCV001140108; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899803240899803AC2:g.240899803A>C-
NM_004544.4(NDUFA10):c.*679A>G4705NDUFA10Conflicting interpretations of pathogenicityrs374065697RCV001140110|RCV001140109; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899856240899856TC2:g.240899856T>C-
NM_004544.4(NDUFA10):c.*647C>T4705NDUFA10Conflicting interpretations of pathogenicityrs116254382RCV000268599|RCV000321400|RCV001797082; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022240899888240899888GANC_000002.11:g.240899888G>AClinGen:CA10613273C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*632G>A4705NDUFA10Uncertain significancers189306598RCV001140112|RCV001140111; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899903240899903CT2:g.240899903C>T-
NM_004544.4(NDUFA10):c.*631C>T4705NDUFA10Benignrs10933622RCV000279152|RCV000373766|RCV001597101; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240899904240899904GANC_000002.11:g.240899904G>AClinGen:CA10614715C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*548G>C4705NDUFA10Uncertain significancers1694810369RCV001140873|RCV001140872; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899987240899987CG2:g.240899987C>G-
NM_004544.4(NDUFA10):c.*546G>A4705NDUFA10Uncertain significancers192485848RCV000320098|RCV000374741; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899989240899989CTNC_000002.11:g.240899989C>TClinGen:CA10612864C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*489A>G4705NDUFA10Uncertain significancers886055824RCV000294263|RCV000349229; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900046240900046TCNC_000002.11:g.240900046T>CClinGen:CA10614722C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*445C>G4705NDUFA10Uncertain significancers563264912RCV001142721|RCV001142720; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240900090240900090GC2:g.240900090G>C-
NM_004544.4(NDUFA10):c.*438C>T4705NDUFA10Benignrs13396556RCV000295440|RCV000408270|RCV001672575; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240900097240900097GANC_000002.11:g.240900097G>AClinGen:CA10614954C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*435A>G4705NDUFA10Uncertain significancers1054245819RCV001142722|RCV001142723; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240900100240900100TC2:g.240900100T>C-
NM_004544.4(NDUFA10):c.*428C>T4705NDUFA10Conflicting interpretations of pathogenicityrs557106858RCV001142724|RCV001142725; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240900107240900107GA2:g.240900107G>A-
NM_004544.4(NDUFA10):c.*414G>A4705NDUFA10Benignrs13424612RCV000345516|RCV000408266|RCV001672576; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240900121240900121CTNC_000002.11:g.240900121C>TClinGen:CA10614955C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*412A>G4705NDUFA10Uncertain significancers546052985RCV000310551|RCV000365252; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900123240900123TCNC_000002.11:g.240900123T>CClinGen:CA10612865C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*407C>T4705NDUFA10Benign/Likely benignrs74614612RCV000302356|RCV000405266; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240900128240900128GANC_000002.11:g.240900128G>AClinGen:CA10614960C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*396C>G4705NDUFA10Benign/Likely benignrs73103629RCV001137976|RCV001137977|RCV001786442; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022240900139240900139GC2:g.240900139G>C-
NM_004544.4(NDUFA10):c.*372C>T4705NDUFA10Uncertain significancers143693330RCV001138393|RCV001138394; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900163240900163GA2:g.240900163G>A-
NM_004544.4(NDUFA10):c.*361A>G4705NDUFA10Uncertain significancers778261754RCV000317150|RCV000353317; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240900174240900174TCNC_000002.11:g.240900174T>CClinGen:CA10614724C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*308C>T4705NDUFA10Benignrs8369RCV000263165|RCV000318301|RCV001672577; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240900227240900227GANC_000002.11:g.240900227G>AClinGen:CA10612868C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*183C>T4705NDUFA10Conflicting interpretations of pathogenicityrs112660586RCV001138395|RCV001138396; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900352240900352GA2:g.240900352G>A-
NM_004544.4(NDUFA10):c.*105G>A4705NDUFA10Uncertain significancers886055825RCV000292644|RCV000386938; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900430240900430CTNC_000002.11:g.240900430C>TClinGen:CA10613274C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His)4705NDUFA10Uncertain significancers201449418RCV001140972|RCV001140973|RCV001545378; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240900593240900593CT2:g.240900593C>T-
NM_004544.4(NDUFA10):c.1000-3C>G4705NDUFA10Conflicting interpretations of pathogenicityrs199648872RCV000199808|RCV000333603|RCV000388170; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900606240900606GC2:g.240900606G>CClinGen:CA324354C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly)4705NDUFA10Uncertain significancers758042753RCV001140974|RCV001140975; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240929496240929496TC2:g.240929496T>C-
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr)4705NDUFA10Uncertain significancers1188020120RCV001142821|RCV001142820|RCV002032355; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240929505240929505GA2:g.240929505G>A-
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly)4705NDUFA10Uncertain significancers1222086753RCV001142822|RCV001142823; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240929565240929565TC2:g.240929565T>C-
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys)4705NDUFA10Uncertain significancers762669820RCV000290264|RCV000401972; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240944652240944652GANC_000002.11:g.240944652G>AClinGen:CA2200827C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)4705NDUFA10Benignrs13848RCV000117700|RCV000340422|RCV000392330|RCV000676555|RCV001778731; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:6182432240946766240946766TC2:g.240946766T>CClinGen:CA153845C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.749+5G>A4705NDUFA10Uncertain significancers1697147446RCV001138075|RCV001138076; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240951029240951029CT2:g.240951029C>T-
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)4705NDUFA10Benign/Likely benignrs35462421RCV000127101|RCV000514175|RCV000987070|RCV001138077; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240951071240951071CT2:g.240951071C>TClinGen:CA292421CN517202 not provided;
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)4705NDUFA10Conflicting interpretations of pathogenicityrs148656779RCV001138078|RCV001138079|RCV002070620; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022240954195240954195GA2:g.240954195G>A-
NM_004544.4(NDUFA10):c.558C>T (p.His186=)4705NDUFA10Uncertain significancers1407750102RCV001138080|RCV001138081; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240954267240954267GA2:g.240954267G>A-
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=)4705NDUFA10Conflicting interpretations of pathogenicityrs149783296RCV000301141|RCV000392325|RCV000613561; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN1693742240954276240954276AGNC_000002.11:g.240954276A>GClinGen:CA2200958C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.548-9A>G4705NDUFA10Conflicting interpretations of pathogenicityrs147876332RCV000127100|RCV000275112|RCV000355965|RCV000676557; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022240954286240954286TC2:g.240954286T>CClinGen:CA292420C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg)4705NDUFA10Uncertain significancers759587515RCV001138505|RCV001138504; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240957988240957988CT2:g.240957988C>T-
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro)4705NDUFA10Uncertain significancers1559403435RCV001138507|RCV001138506; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240958033240958033AG2:g.240958033A>G-
NM_004544.4(NDUFA10):c.460+5A>G4705NDUFA10Uncertain significancers1158773739RCV001141065|RCV001141066; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240960609240960609TC2:g.240960609T>C-
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)4705NDUFA10Conflicting interpretations of pathogenicityrs140776586RCV000200645|RCV001141067|RCV001141068; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240960670240960670AG2:g.240960670A>GClinGen:CA325234CN169374 not specified;
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=)4705NDUFA10Uncertain significancers749199433RCV001141070|RCV001141069; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240960711240960711CT2:g.240960711C>T-
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)4705NDUFA10Uncertain significancers118106981RCV001141072|RCV001141071; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240960720240960720GA2:g.240960720G>A-
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=)4705NDUFA10Uncertain significancers770747594RCV000311748|RCV000371039; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240960804240960804CTNC_000002.11:g.240960804C>TClinGen:CA2201102C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser)4705NDUFA10Benign/Likely benignrs35715497RCV000195637|RCV000892540|RCV001142921|RCV001142922; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240961639240961639TCNC_000002.11:g.240961639T>CClinGen:CA320001CN169374 not specified;
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu)4705NDUFA10Uncertain significancers558134843RCV001142923|RCV001142924; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240961723240961723CA2:g.240961723C>A-
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)4705NDUFA10Benignrs2083411RCV000117699|RCV000276426|RCV000326842|RCV000676559|RCV001778730; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:6182432240961728240961728TC2:g.240961728T>CClinGen:CA153843C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=)4705NDUFA10Uncertain significancers980893132RCV001138191|RCV001138190; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240964656240964656GC2:g.240964656G>C-
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)4705NDUFA10Uncertain significancers928084265RCV001138192|RCV001138193; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240964678240964678GC2:g.240964678G>C-
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val)4705NDUFA10Uncertain significancers1258770997RCV001138194|RCV001138195; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240964690240964690GA2:g.240964690G>A-
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=)4705NDUFA10Benignrs113012830RCV000173349|RCV000273080|RCV000381649|RCV000966149; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240964695240964695CT2:g.240964695C>TClinGen:CA302697C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly)4705NDUFA10Benignrs11541494RCV000328287|RCV000378198|RCV000383086|RCV000676560; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN5172022240964714240964714GC2:g.240964714G>CClinGen:CA2201190,UniProtKB:O95299#VAR_034149C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.-34C>T4705NDUFA10Uncertain significancers920826583RCV001138617|RCV001138618; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240964752240964752GA2:g.240964752G>A-
NM_004544.4(NDUFA10):c.-36C>T4705NDUFA10Uncertain significancers886055826RCV000283761|RCV000343470; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240964754240964754GANC_000002.11:g.240964754G>AClinGen:CA10614725C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.-38T>G4705NDUFA10Conflicting interpretations of pathogenicityrs374970309RCV000200045|RCV001141189|RCV001141188; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240964756240964756ACNC_000002.11:g.240964756A>CClinGen:CA324598CN169374 not specified;
NM_175614.5(NDUFA11):c.*63G>A126328NDUFA11Uncertain significancers749166288RCV001133935; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958946905894690CT19:g.5894690C>T-
NM_175614.5(NDUFA11):c.*59C>G126328NDUFA11Uncertain significancers191571307RCV000321494; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958946945894694GCNC_000019.9:g.5894694G>CClinGen:CA9118876C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.*55G>C126328NDUFA11Uncertain significancers771648754RCV000378538; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958946985894698CGNC_000019.9:g.5894698C>GClinGen:CA10652804C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=)126328NDUFA11Conflicting interpretations of pathogenicityrs536499962RCV000926141|RCV001133936; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958948345894834GA19:g.5894834G>A-
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)126328NDUFA11Conflicting interpretations of pathogenicityrs199842745RCV000197389|RCV000765475; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958964665896466CANC_000019.9:g.5896466C>AClinGen:CA321842C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=)126328NDUFA11Uncertain significancers941748424RCV001135432; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958964895896489GA19:g.5896489G>A-
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=)126328NDUFA11Uncertain significancers1345378776RCV001135433; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958965435896543GA19:g.5896543G>A-
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val)126328NDUFA11Uncertain significancers886054647RCV000325113; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958965445896544GANC_000019.9:g.5896544G>AClinGen:CA10652263C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.205G>A (p.Val69Met)126328NDUFA11Uncertain significancers774174896RCV001330535|RCV001863224; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021958965725896572CT5896572-
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=)126328NDUFA11Conflicting interpretations of pathogenicityrs138889960RCV000382120|RCV000914175; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021958969685896968CT19:g.5896968C>TClinGen:CA322939C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser)126328NDUFA11Uncertain significancers2057614252RCV001135434; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958970025897002GC19:g.5897002G>C-
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser)126328NDUFA11Uncertain significancers1192917919RCV001135435; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959036565903656CA19:g.5903656C>A-
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=)126328NDUFA11Conflicting interpretations of pathogenicityrs146562956RCV000127107|RCV000756412|RCV001135436; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959036725903672GANC_000019.9:g.5903672G>AClinGen:CA292428CN169374 not specified;
NM_175614.5(NDUFA11):c.-31G>A126328NDUFA11Uncertain significancers886054648RCV000290662; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959037505903750CTNC_000019.9:g.5903750C>TClinGen:CA10649160C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.-51T>G126328NDUFA11Uncertain significancers886054649RCV000347902; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959037705903770ACNC_000019.9:g.5903770A>CClinGen:CA10649162C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-83G>C126328NDUFA11Uncertain significancers562075121RCV000386066; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959038025903802CGNC_000019.9:g.5903802C>GClinGen:CA9119071C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-88C>A126328NDUFA11Benignrs8108064RCV000294085|RCV001613069; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021959038075903807GTNC_000019.9:g.5903807G>TClinGen:CA9119073C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-143C>G126328NDUFA11Uncertain significancers550697802RCV000351225; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959038625903862GCNC_000019.9:g.5903862G>CClinGen:CA9119077C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-210T>C126328NDUFA11Uncertain significancers886054650RCV000297568; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959039295903929AGNC_000019.9:g.5903929A>GClinGen:CA10649164C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-217A>G126328NDUFA11Benignrs1056987RCV000336107|RCV001712053; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021959039365903936TCNC_000019.9:g.5903936T>CClinGen:CA9119086C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-234T>C126328NDUFA11Likely benignrs115530541RCV000408273; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959039535903953AG19:g.5903953A>GClinGen:CA9119089C1838979 252010 Mitochondrial complex I deficiency;
NC_000019.10:g.5903990A>G126328NDUFA11Uncertain significancers779432735RCV001131101; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959040015904001AG19:g.5904001A>G-
NM_175614.4(NDUFA11):c.-300G>A126328NDUFA11Conflicting interpretations of pathogenicityrs563822139RCV000301439|RCV001770263; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021959040195904019CT19:g.5904019C>TClinGen:CA9119093C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg)4695NDUFA2Uncertain significancers79526416RCV000360340; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140026858140026858TCNC_000005.9:g.140026858T>CClinGen:CA3442497C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=)4695NDUFA2Uncertain significancers200255683RCV000259757; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140026872140026872GANC_000005.9:g.140026872G>AClinGen:CA3442500C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=)4695NDUFA2Uncertain significancers745399748RCV000298528; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140026914140026914CTNC_000005.9:g.140026914C>TClinGen:CA3442509C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val)4695NDUFA2Conflicting interpretations of pathogenicityrs35672074RCV000127109|RCV000441489|RCV001155276; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027129140027129GCNC_000005.9:g.140027129G>CClinGen:CA292433CN517202 not provided;
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val)4695NDUFA2Uncertain significancers1255776529RCV001155277; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027143140027143CA5:g.140027143C>A-
NM_002488.4(NDUFA2):c.-48A>G4695NDUFA2Benignrs778593RCV000355665|RCV001672651; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172025140027216140027216TCNC_000005.9:g.140027216T>CClinGen:CA3442589C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-50G>A4695NDUFA2Conflicting interpretations of pathogenicityrs143857164RCV000263224|RCV000612041; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN1693745140027218140027218CTNC_000005.9:g.140027218C>TClinGen:CA3442590C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-51C>A4695NDUFA2Uncertain significancers886060016RCV000329989; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027219140027219GTNC_000005.9:g.140027219G>TClinGen:CA10620335C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-53A>G4695NDUFA2Uncertain significancers747127939RCV000386841; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027221140027221TCNC_000005.9:g.140027221T>CClinGen:CA3442591C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-63G>A4695NDUFA2Uncertain significancers748460855RCV000276097; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027231140027231CTNC_000005.9:g.140027231C>TClinGen:CA3442594C1838979 252010 Mitochondrial complex I deficiency;
NM_001185012.1(NDUFA2):c.-114T>A4695NDUFA2Uncertain significancers760264090RCV001156939; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027282140027282AT5:g.140027282A>T-
NM_002488.4(NDUFA2):c.-136A>G4695NDUFA2Benignrs778594RCV000333463|RCV001653684; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172025140027304140027304TCNC_000005.9:g.140027304T>CClinGen:CA3442607C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-145T>A4695NDUFA2Uncertain significancers886060017RCV000380861; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027313140027313ATNC_000005.9:g.140027313A>TClinGen:CA10622992C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly)51103NDUFAF1Benignrs12900702RCV000117704|RCV000348185|RCV000676308; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154167968541679685GC15:g.41679685G>CClinGen:CA153851,UniProtKB:Q9Y375#VAR_013562C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=)51103NDUFAF1Benignrs73407109RCV000402188|RCV000676309; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154167971741679717CT15:g.41679717C>TClinGen:CA7491196C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=)51103NDUFAF1Conflicting interpretations of pathogenicityrs145122315RCV000199600|RCV000282770|RCV000896710; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154167977141679771GANC_000015.9:g.41679771G>AClinGen:CA324141C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val)51103NDUFAF1Uncertain significancers769371844RCV001119016; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168709541687095TC15:g.41687095T>C-
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)51103NDUFAF1Conflicting interpretations of pathogenicityrs150539399RCV000192874|RCV000428377|RCV001120991; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168710841687108CT15:g.41687108C>TClinGen:CA319696CN517202 not provided;
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser)51103NDUFAF1Uncertain significancers759432475RCV001120992; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168711541687115TC15:g.41687115T>C-
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn)51103NDUFAF1Uncertain significancers866015009RCV000342483; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168717341687173CT15:g.41687173C>TClinGen:CA10635972C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met)51103NDUFAF1Benign/Likely benignrs34979001RCV000127120|RCV000676310|RCV001120993; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168870041688700TCNC_000015.9:g.41688700T>CClinGen:CA292448CN517202 not provided;
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val)51103NDUFAF1Conflicting interpretations of pathogenicityrs372385045RCV000200385|RCV000398311; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168870541688705TCNC_000015.9:g.41688705T>CClinGen:CA324955C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly)51103NDUFAF1Uncertain significancers886051143RCV000297831; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168872041688720TCNC_000015.9:g.41688720T>CClinGen:CA10645903C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln)51103NDUFAF1Uncertain significancers576430165RCV001120994; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168872241688722CT15:g.41688722C>T-
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys)51103NDUFAF1Benign/Likely benignrs35227875RCV000127119|RCV000336396|RCV000676311|RCV000999773; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:618234154168873241688732CT15:g.41688732C>TClinGen:CA292446,UniProtKB:Q9Y375#VAR_013561C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=)51103NDUFAF1Uncertain significancers764849578RCV001116065; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168882941688829CT15:g.41688829C>T-
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala)51103NDUFAF1Uncertain significancers151286131RCV000408081|RCV000732392; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154168889041688890AG15:g.41688890A>GClinGen:CA323476C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys)51103NDUFAF1Uncertain significancers759057658RCV001116066; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168897441688974CT15:g.41688974C>T-
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu)51103NDUFAF1Uncertain significancers146540015RCV000198494|RCV001116067; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168900941689009ATNC_000015.9:g.41689009A>TClinGen:CA323005
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu)51103NDUFAF1Uncertain significancers1406147170RCV001116068; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168902041689020CG15:g.41689020C>G-
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser)51103NDUFAF1Conflicting interpretations of pathogenicityrs200472799RCV000301292|RCV000911034; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154168904341689043GC15:g.41689043G>CClinGen:CA321075C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu)51103NDUFAF1Benignrs3204853RCV000117703|RCV000367569|RCV000676312|RCV001778733; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:618234154168916641689166CA15:g.41689166C>AClinGen:CA153849,UniProtKB:Q9Y375#VAR_013560C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser)51103NDUFAF1Uncertain significancers148982578RCV000275249; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168919741689197TANC_000015.9:g.41689197T>AClinGen:CA7491404C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His)51103NDUFAF1Benignrs1899RCV000117702|RCV000314089|RCV000676313|RCV001778732; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:618234154168923241689232CT15:g.41689232C>TClinGen:CA153847,UniProtKB:Q9Y375#VAR_013559C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-6T>G51103NDUFAF1Conflicting interpretations of pathogenicityrs180730324RCV000127118|RCV000371026|RCV000676314; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154168926341689263ACNC_000015.9:g.41689263A>CClinGen:CA292445C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-34C>G51103NDUFAF1Uncertain significancers751720445RCV001117510; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168929141689291GC15:g.41689291G>C-
NM_016013.4(NDUFAF1):c.-137C>T51103NDUFAF1Uncertain significancers369431865RCV000269256; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169439741694397GANC_000015.9:g.41694397G>AClinGen:CA7491436C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-140C>T51103NDUFAF1Uncertain significancers886051144RCV000326685; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169440041694400GANC_000015.9:g.41694400G>AClinGen:CA10646922C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-165C>T51103NDUFAF1Uncertain significancers561102841RCV001117511; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169442541694425GA15:g.41694425G>A-
NM_016013.4(NDUFAF1):c.-180C>T51103NDUFAF1Uncertain significancers886051145RCV000383639; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169444041694440GANC_000015.9:g.41694440G>AClinGen:CA10641802C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-192T>C51103NDUFAF1Uncertain significancers948869374RCV001117512; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169445241694452AG15:g.41694452A>G-
NM_016013.4(NDUFAF1):c.-205G>C51103NDUFAF1Uncertain significancers190265352RCV000272915; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169446541694465CGNC_000015.9:g.41694465C>GClinGen:CA10635974C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-242G>C51103NDUFAF1Uncertain significancers762867624RCV001119109; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169450241694502CG15:g.41694502C>G-
NM_016013.4(NDUFAF1):c.-293C>T51103NDUFAF1Uncertain significancers760649120RCV000320670; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169455341694553GANC_000015.9:g.41694553G>AClinGen:CA7491446C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-312T>G51103NDUFAF1Uncertain significancers886051146RCV000377592; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169457241694572ACNC_000015.9:g.41694572A>CClinGen:CA10641810C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-352C>T51103NDUFAF1Uncertain significancers532681188RCV000285408; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169461241694612GANC_000015.9:g.41694612G>AClinGen:CA10646925C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-379C>T51103NDUFAF1Benign/Likely benignrs146883891RCV000342761|RCV001712026; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154169463941694639GANC_000015.9:g.41694639G>AClinGen:CA7491450C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-386A>T51103NDUFAF1Benign/Likely benignrs111326645RCV000371953|RCV001613012; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154169464641694646TANC_000015.9:g.41694646T>AClinGen:CA7491452C1838979 252010 Mitochondrial complex I deficiency;
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys)91942NDUFAF2Uncertain significancers779872068RCV000294764|RCV000386723; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056024118060241180AGNC_000005.9:g.60241180A>GClinGen:CA3278067C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His)91942NDUFAF2Uncertain significancers773988847RCV001156249|RCV001156250; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056024118260241182TC5:g.60241182T>C-
NM_174889.5(NDUFAF2):c.128-14C>G91942NDUFAF2Uncertain significancers537327206RCV000351951|RCV000399037; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056036893860368938CGNC_000005.9:g.60368938C>GClinGen:CA3278114C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)91942NDUFAF2Conflicting interpretations of pathogenicityrs775605330RCV000197862|RCV001157922|RCV001157923; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056036895560368955AC5:g.60368955A>CClinGen:CA322323CN517202 not provided;
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)91942NDUFAF2Uncertain significancers1752321893RCV001157924|RCV001157925; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056036896060368960AG5:g.60368960A>G-
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)91942NDUFAF2Pathogenic/Likely pathogenicrs137852863RCV000001661|RCV000624428|RCV000679870|RCV000779476|RCV000781647|RCV001582459; NMONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN51720256036896360368963CT5:g.60368963C>TClinGen:CA115096,OMIM:609653.0001C0950123 Inborn genetic diseases;
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His)91942NDUFAF2Uncertain significancers769579395RCV000298358|RCV000336991; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056036902060369020GCNC_000005.9:g.60369020G>CClinGen:CA3278128C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=)91942NDUFAF2Benign/Likely benignrs191388646RCV000197895|RCV000886535|RCV001152460|RCV001157926; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50656044857260448572ATNC_000005.9:g.60448572A>TClinGen:CA322362CN169374 not specified;
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu)91942NDUFAF2Uncertain significancers770172045RCV000302238|RCV000400065; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056044868660448686TANC_000005.9:g.60448686T>AClinGen:CA3278195C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val)91942NDUFAF2Uncertain significancers749677218RCV000266885|RCV000359308|RCV001861260; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720256044869460448694ATNC_000005.9:g.60448694A>TClinGen:CA3278196C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)91942NDUFAF2Conflicting interpretations of pathogenicityrs550008432RCV001152461|RCV001152462|RCV001712860; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720256044869560448695AG5:g.60448695A>G-
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)91942NDUFAF2Conflicting interpretations of pathogenicityrs9885480RCV000585479|RCV000602804|RCV001152463|RCV001153733; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50656044872360448723GA5:g.60448723G>AClinGen:CA3278200CN517202 not provided;
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=)91942NDUFAF2Benign/Likely benignrs77878573RCV000127122|RCV000305680|RCV000363788|RCV000676955|RCV001001689; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:61823356044873460448734TC5:g.60448734T>CClinGen:CA292451C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)-1NDUFAF2;ERCC8Conflicting interpretations of pathogenicityrs199754807RCV000485122|RCV000590864|RCV000674200|RCV000780529|RCV001335554; NMedGen:CN517202|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233|MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400, Orphanet:191, Orphanet:90321|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056024119660241196CG5:g.60241196C>GClinGen:CA3278074,OMIM:609653.0004C0751039 216400 Cockayne syndrome type A;
NM_199074.2(NDUFAF3):c.-94-704G>A25915NDUFAF3Uncertain significancers774579592RCV001147842; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905907549059075GA3:g.49059075G>A-
NM_199074.2(NDUFAF3):c.-94-704G>C25915NDUFAF3Uncertain significancers774579592RCV001147843; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905907549059075GC3:g.49059075G>C-
NM_199074.2(NDUFAF3):c.-94-690T>C25915NDUFAF3Uncertain significancers886058662RCV000298090; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905908949059089TCNC_000003.11:g.49059089T>CClinGen:CA10619029C1838979 252010 Mitochondrial complex I deficiency;
NM_199074.2(NDUFAF3):c.-94-571A>G25915NDUFAF3Uncertain significancers886058663RCV000355315; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905920849059208AGNC_000003.11:g.49059208A>GClinGen:CA10619030C1838979 252010 Mitochondrial complex I deficiency;
NM_199074.2(NDUFAF3):c.-94-570C>T25915NDUFAF3Uncertain significancers886058664RCV000263161; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905920949059209CT3:g.49059209C>TClinGen:CA10619146C1838979 252010 Mitochondrial complex I deficiency;
NM_199074.2(NDUFAF3):c.-94-564C>G25915NDUFAF3Conflicting interpretations of pathogenicityrs760652685RCV000329996|RCV001643049; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720234905921549059215CG3:g.49059215C>GClinGen:CA10619147C1838979 252010 Mitochondrial complex I deficiency;
NM_199074.2(NDUFAF3):c.-94-450C>T25915NDUFAF3Uncertain significancers886058665RCV000368268; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905932949059329CT3:g.49059329C>TClinGen:CA10616898C1838979 252010 Mitochondrial complex I deficiency;
NM_199074.2(NDUFAF3):c.-94-442C>T25915NDUFAF3Uncertain significancers573066357RCV000276027; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905933749059337CT3:g.49059337C>TClinGen:CA10619032C1838979 252010 Mitochondrial complex I deficiency;
NM_199074.2(NDUFAF3):c.-94-344A>T25915NDUFAF3Uncertain significancers2093162490RCV001149378; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905943549059435AT3:g.49059435A>T-
NM_199074.2(NDUFAF3):c.-94-328G>C25915NDUFAF3Uncertain significancers74601553RCV000333640; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905945149059451GC3:g.49059451G>CClinGen:CA10619148C1838979 252010 Mitochondrial complex I deficiency;
NM_199074.2(NDUFAF3):c.-94-327G>C25915NDUFAF3Uncertain significancers75749590RCV000381247; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905945249059452GCNC_000003.11:g.49059452G>CClinGen:CA10616899C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile)25915NDUFAF3Uncertain significancers551062879RCV001149379; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905960349059603GT3:g.49059603G>T-
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val)25915NDUFAF3Uncertain significancers886058667RCV000327772; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905961549059615CTNC_000003.11:g.49059615C>TClinGen:CA10616907C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.78-15C>G25915NDUFAF3Conflicting interpretations of pathogenicityrs587781096RCV000127123|RCV001149380; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905976449059764CG3:g.49059764C>GClinGen:CA292453CN169374 not specified;
NM_199069.2(NDUFAF3):c.109G>A (p.Ala37Thr)25915NDUFAF3Uncertain significancers527954570RCV001336161; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905981049059810GA49059810-
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)25915NDUFAF3Pathogenic/Likely pathogenicrs756339822RCV000424141|RCV001336162; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905988849059889TTA3:g.49059888_49059889insAClinGen:CA2390207CN517202 not provided;
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr)25915NDUFAF3Uncertain significancers199504381RCV001149381; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905989249059892AC3:g.49059892A>C-
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys)25915NDUFAF3Uncertain significancers200576852RCV000200717|RCV001145085; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905989449059894AT3:g.49059894A>TClinGen:CA325295CN169374 not specified;
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu)25915NDUFAF3Uncertain significancers2093169670RCV001145086; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905990649059906AT3:g.49059906A>T-
NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe)25915NDUFAF3Uncertain significancers373060774RCV001145087|RCV001858951; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720234905992749059927CT3:g.49059927C>T-
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=)25915NDUFAF3Uncertain significancers759189660RCV001145088; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905995949059959GA3:g.49059959G>A-
NM_199069.2(NDUFAF3):c.271-10C>G25915NDUFAF3Conflicting interpretations of pathogenicityrs200789117RCV000906360|RCV001145089; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906012549060125CG3:g.49060125C>G-
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=)25915NDUFAF3Uncertain significancers770941671RCV000376672; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906017649060176CANC_000003.11:g.49060176C>AClinGen:CA10619034C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.338-12A>C25915NDUFAF3Uncertain significancers774901107RCV000284541; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906029749060297ACNC_000003.11:g.49060297A>CClinGen:CA2390287C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=)25915NDUFAF3Conflicting interpretations of pathogenicityrs202104160RCV000916872|RCV001145090; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906031349060313CT3:g.49060313C>TClinGen:CA2390290CN169374 not specified;
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg)25915NDUFAF3Uncertain significancers544277179RCV000341917|RCV001660725; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720234906035749060357AGNC_000003.11:g.49060357A>GClinGen:CA2390300C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.438+9C>T25915NDUFAF3Uncertain significancers374825937RCV000401207; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906041849060418CTNC_000003.11:g.49060418C>TClinGen:CA2390308C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser)25915NDUFAF3Uncertain significancers1378867079RCV001147044; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906058649060586TC3:g.49060586T>C-
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter)25915NDUFAF3Uncertain significancers527841371RCV000779416; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906060049060600CTNC_000003.11:g.49060600C>T-
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg)25915NDUFAF3Uncertain significancers886058668RCV000278447; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906060149060601AGNC_000003.11:g.49060601A>GClinGen:CA10616913C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.*98A>G25915NDUFAF3Uncertain significancers117051791RCV001147045; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906070349060703AG3:g.49060703A>G-
NM_199069.2(NDUFAF3):c.*169G>C25915NDUFAF3Uncertain significancers886058669RCV000335789; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906077449060774GCNC_000003.11:g.49060774G>CClinGen:CA10619039C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.*194G>C25915NDUFAF3Uncertain significancers78116829RCV000393605; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906079949060799GCNC_000003.11:g.49060799G>CClinGen:CA10619045C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.*243G>A25915NDUFAF3Uncertain significancers941353519RCV001147046; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906084849060848GA3:g.49060848G>A-
NM_014165.4(NDUFAF4):c.*1748T>C29078NDUFAF4Uncertain significancers886061823RCV000347095; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733723297337232AGNC_000006.11:g.97337232A>GClinGen:CA10624868C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1728G>A29078NDUFAF4Uncertain significancers1775284209RCV001160932; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733725297337252CT6:g.97337252C>T-
NM_014165.4(NDUFAF4):c.*1727T>C29078NDUFAF4Uncertain significancers886061824RCV000397295; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733725397337253AGNC_000006.11:g.97337253A>GClinGen:CA10622814C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1671T>C29078NDUFAF4Uncertain significancers182040819RCV000303762; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733730997337309AGNC_000006.11:g.97337309A>GClinGen:CA10627750C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1642T>G29078NDUFAF4Uncertain significancers150444958RCV000360842; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733733897337338ACNC_000006.11:g.97337338A>CClinGen:CA10627754C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1487A>G29078NDUFAF4Uncertain significancers748437516RCV000268561; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733749397337493TCNC_000006.11:g.97337493T>CClinGen:CA10627759C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1481T>C29078NDUFAF4Uncertain significancers772264922RCV000297975; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733749997337499AGNC_000006.11:g.97337499A>GClinGen:CA10622816C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1447T>C29078NDUFAF4Uncertain significancers116939090RCV000354926; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733753397337533AGNC_000006.11:g.97337533A>GClinGen:CA10622817C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1443G>A29078NDUFAF4Benignrs7758762RCV000262685; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733753797337537CT6:g.97337537C>TClinGen:CA10622818C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1375G>T29078NDUFAF4Uncertain significancers138003168RCV000320120; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733760597337605CA6:g.97337605C>AClinGen:CA10627762C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1368A>G29078NDUFAF4Uncertain significancers563778638RCV001162539; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733761297337612TC6:g.97337612T>C-
NM_014165.4(NDUFAF4):c.*1363G>A29078NDUFAF4Uncertain significancers184678986RCV000386306; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733761797337617CT6:g.97337617C>TClinGen:CA10624869C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1362C>T29078NDUFAF4Uncertain significancers545168471RCV000275165; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733761897337618GA6:g.97337618G>AClinGen:CA10627818C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1334G>A29078NDUFAF4Uncertain significancers763941216RCV001162540; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733764697337646CT6:g.97337646C>T-
NM_014165.4(NDUFAF4):c.*1299G>A29078NDUFAF4Likely benignrs73758053RCV001162541; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733768197337681CT6:g.97337681C>T-
NM_014165.4(NDUFAF4):c.*1247A>G29078NDUFAF4Uncertain significancers1775290779RCV001162542; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733773397337733TC6:g.97337733T>C-
NM_014165.4(NDUFAF4):c.*1214G>A29078NDUFAF4Likely benignrs17057099RCV001164580; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733776697337766CT6:g.97337766C>T-
NM_014165.4(NDUFAF4):c.*1213C>T29078NDUFAF4Uncertain significancers1456765249RCV001164581; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733776797337767GA6:g.97337767G>A-
NM_014165.4(NDUFAF4):c.*1203A>G29078NDUFAF4Uncertain significancers190331411RCV000332635; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733777797337777TC6:g.97337777T>CClinGen:CA10624873C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1154A>G29078NDUFAF4Uncertain significancers886061825RCV000389364; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733782697337826TC6:g.97337826T>CClinGen:CA10622823C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1121A>G29078NDUFAF4Uncertain significancers886061826RCV000288104; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733785997337859TCNC_000006.11:g.97337859T>CClinGen:CA10627819C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1062T>G29078NDUFAF4Likely benignrs76370016RCV000345543; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733791897337918ACNC_000006.11:g.97337918A>CClinGen:CA10624874C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1008T>C29078NDUFAF4Uncertain significancers886061827RCV000291794; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733797297337972AGNC_000006.11:g.97337972A>GClinGen:CA10622824C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*986A>C29078NDUFAF4Uncertain significancers192839240RCV000339758; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733799497337994TGNC_000006.11:g.97337994T>GClinGen:CA10627822C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*782T>C29078NDUFAF4Uncertain significancers190211537RCV001159665; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733819897338198AG6:g.97338198A>G-
NM_014165.4(NDUFAF4):c.*690G>A29078NDUFAF4Uncertain significancers181915821RCV000396406; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733829097338290CTNC_000006.11:g.97338290C>TClinGen:CA10624876C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*639A>C29078NDUFAF4Likely benignrs11759571RCV001159666; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733834197338341TG6:g.97338341T>G-
NM_014165.4(NDUFAF4):c.*612A>G29078NDUFAF4Uncertain significancers886061828RCV000305325; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733836897338368TCNC_000006.11:g.97338368T>CClinGen:CA10627764C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*482A>G29078NDUFAF4Uncertain significancers56240093RCV001159667; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733849897338498TC6:g.97338498T>C-
NM_014165.4(NDUFAF4):c.*459A>G29078NDUFAF4Uncertain significancers560563894RCV000334469; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733852197338521TCNC_000006.11:g.97338521T>CClinGen:CA10627823C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*387C>T29078NDUFAF4Likely benignrs41288596RCV000396414; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733859397338593GANC_000006.11:g.97338593G>AClinGen:CA10624880C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*382T>A29078NDUFAF4Benignrs1971475RCV000299285; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733859897338598ATNC_000006.11:g.97338598A>TClinGen:CA10624888C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*350A>C29078NDUFAF4Likely benignrs41288598RCV000356500; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733863097338630TGNC_000006.11:g.97338630T>GClinGen:CA10627824C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*332A>T29078NDUFAF4Benignrs10499008RCV000273464; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733864897338648TANC_000006.11:g.97338648T>AClinGen:CA10627825C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*323A>T29078NDUFAF4Benignrs9487453RCV000312171; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733865797338657TANC_000006.11:g.97338657T>AClinGen:CA10622826C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*305C>A29078NDUFAF4Uncertain significancers576437181RCV001161063; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733867597338675GT6:g.97338675G>T-
NM_014165.4(NDUFAF4):c.*301T>A29078NDUFAF4Benignrs1854268RCV000369579|RCV001537432; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720269733867997338679ATNC_000006.11:g.97338679A>TClinGen:CA10622827C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*294T>G29078NDUFAF4Uncertain significancers555318888RCV000277352; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733868697338686ACNC_000006.11:g.97338686A>CClinGen:CA10627828C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*289C>G29078NDUFAF4Uncertain significancers143895125RCV000325406; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733869197338691GCNC_000006.11:g.97338691G>CClinGen:CA10627765C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*289C>T29078NDUFAF4Uncertain significancers143895125RCV001161064; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733869197338691GA6:g.97338691G>A-
NM_014165.4(NDUFAF4):c.*119T>C29078NDUFAF4Uncertain significancers113099906RCV001162632; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733886197338861AG6:g.97338861A>G-
NM_014165.4(NDUFAF4):c.*14A>C29078NDUFAF4Uncertain significancers1775308769RCV001162633; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733896697338966TG6:g.97338966T>G-
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr)29078NDUFAF4Conflicting interpretations of pathogenicityrs201754378RCV000382393|RCV000423154; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN16937469733901797339017ATNC_000006.11:g.97339017A>TClinGen:CA3931381C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=)29078NDUFAF4Benignrs6684RCV000117707|RCV000271558|RCV000676773|RCV001778736; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:61823769733907897339078AG6:g.97339078A>GClinGen:CA153857C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=)29078NDUFAF4Benignrs11402RCV000117706|RCV000328919|RCV000676774|RCV001778735; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:61823769733908897339088CT6:g.97339088C>TClinGen:CA153855C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=)29078NDUFAF4Conflicting interpretations of pathogenicityrs372832376RCV000612845|RCV001164693; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733923897339238CT6:g.97339238C>TClinGen:CA3931408CN169374 not specified;
NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser)29078NDUFAF4Uncertain significancers1775313687RCV001333727; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733924097339240GA97339240-
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala)29078NDUFAF4Uncertain significancers886061829RCV000284369; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734463797344637GCNC_000006.11:g.97344637G>CClinGen:CA10627829C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=)29078NDUFAF4Uncertain significancers760918613RCV001164694; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734467197344671CG6:g.97344671C>G-
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=)29078NDUFAF4Conflicting interpretations of pathogenicityrs78567928RCV000323220|RCV000879095; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720269734467697344676GANC_000006.11:g.97344676G>AClinGen:CA3931452C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=)29078NDUFAF4Conflicting interpretations of pathogenicityrs117908219RCV000127126|RCV000756413|RCV001164695|RCV001803001; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:61823769734555897345558CT6:g.97345558C>TClinGen:CA292458CN169374 not specified;
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=)29078NDUFAF4Benign/Likely benignrs139675421RCV000127124|RCV000892181|RCV001164696; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734556797345567GA6:g.97345567G>AClinGen:CA292454CN169374 not specified;
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=)29078NDUFAF4Uncertain significancers1562146819RCV001164697; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734561897345618CA6:g.97345618C>A-
NM_014165.4(NDUFAF4):c.-11G>T29078NDUFAF4Uncertain significancers571796525RCV001164698; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734568897345688CA6:g.97345688C>A-
NM_014165.4(NDUFAF4):c.-20G>T29078NDUFAF4Uncertain significancers1186295770RCV001159770; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734569797345697CA6:g.97345697C>A-
NM_014165.4(NDUFAF4):c.-24C>G29078NDUFAF4Uncertain significancers886061830RCV000380202; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734570197345701GCNC_000006.11:g.97345701G>CClinGen:CA10627830C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.-33G>T29078NDUFAF4Uncertain significancers886061832RCV000336098; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734571097345710CANC_000006.11:g.97345710C>AClinGen:CA10624910C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.-40C>T29078NDUFAF4Uncertain significancers749427985RCV000404642; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734571797345717GANC_000006.11:g.97345717G>AClinGen:CA10624914C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.-49C>T29078NDUFAF4Uncertain significancers372635399RCV000282372; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734572697345726GANC_000006.11:g.97345726G>AClinGen:CA3931532C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.-65C>G29078NDUFAF4Uncertain significancers1463385663RCV001159771; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734574297345742GC6:g.97345742G>C-
NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys)79133NDUFAF5Uncertain significancers1980757406RCV001329313; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010201376584913765849TA13765849-
NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu)79133NDUFAF5Uncertain significancers1980770637RCV001336085; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010201376589013765890CA13765890-
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr)79133NDUFAF5Uncertain significancers146837138RCV000197548|RCV000765487|RCV001276988; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609201376589213765892GANC_000020.10:g.13765892G>AClinGen:CA322012CN517202 not provided;
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)79133NDUFAF5Conflicting interpretations of pathogenicityrs150613320RCV000255420|RCV001266325|RCV001824717|RCV001833296|RCV001507283; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0032621,MedGen:C4748785,OMIM:618238201376929813769298GC20:g.13769298G>CClinGen:CA9767701,OMIM:612360.0007CN517202 not provided;
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs)79133NDUFAF5Uncertain significancers778575439RCV000509006|RCV001089945|RCV001329312; NMONDO:MONDO:0020478,MedGen:C4304725, Orphanet:99718|MONDO:MONDO:0032621,MedGen:C4748785,OMIM:618238|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010201379784113797842GGANC_000020.10:g.13797847dupAClinGen:CA9767961CN207347 Leber plus disease;
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)4709NDUFB3Pathogenic/Likely pathogenicrs142609245RCV000239318|RCV000624796|RCV000504444|RCV000735413|RCV000763470; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0032629,MedGen:C4748806,OMIM:618246|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102201943669201943669TCNC_000002.11:g.201943669T>CClinGen:CA2052282,OMIM:603839.0001C0950123 Inborn genetic diseases;
NM_005006.7(NDUFS1):c.*1077A>T4719NDUFS1Uncertain significancers917604810RCV001141165|RCV001141166; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206987832206987832TA2:g.206987832T>A-
NM_005006.7(NDUFS1):c.*966A>G4719NDUFS1Uncertain significancers755776989RCV000301641|RCV000358744; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206987943206987943TCNC_000002.11:g.206987943T>CClinGen:CA10612140C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*938C>T4719NDUFS1Uncertain significancers780498090RCV001141167|RCV001141168; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206987971206987971GA2:g.206987971G>A-
NM_005006.7(NDUFS1):c.*866A>C4719NDUFS1Uncertain significancers749790811RCV000307294|RCV000398472; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988043206988043TGNC_000002.11:g.206988043T>GClinGen:CA10613689C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*864G>A4719NDUFS1Uncertain significancers1691159722RCV001143008|RCV001143009; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988045206988045CT2:g.206988045C>T-
NM_005006.7(NDUFS1):c.*756A>T4719NDUFS1Uncertain significancers755460274RCV000275533|RCV000332991; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988153206988153TANC_000002.11:g.206988153T>AClinGen:CA10613692C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*733A>G4719NDUFS1Benignrs6707707RCV000278615|RCV000389432; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988176206988176TCNC_000002.11:g.206988176T>CClinGen:CA10612142C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*641A>G4719NDUFS1Uncertain significancers886055501RCV000317468|RCV000374378; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988268206988268TCNC_000002.11:g.206988268T>CClinGen:CA10612143C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*574T>G4719NDUFS1Benign/Likely benignrs73065790RCV001138267|RCV001138268|RCV001796372; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022206988335206988335AC2:g.206988335A>C-
NM_005006.7(NDUFS1):c.*561T>C4719NDUFS1Uncertain significancers146538309RCV000282324|RCV000339709; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206988348206988348AGNC_000002.11:g.206988348A>GClinGen:CA10612576C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*504G>A4719NDUFS1Uncertain significancers548641207RCV000286009|RCV000394554; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206988405206988405CT2:g.206988405C>TClinGen:CA10613695C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*459A>G4719NDUFS1Uncertain significancers1691173843RCV001138691|RCV001138692; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206988450206988450TC2:g.206988450T>C-
NM_005006.7(NDUFS1):c.*457T>A4719NDUFS1Benignrs4147728RCV000342686|RCV000394556|RCV001683335; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022206988452206988452AT2:g.206988452A>TClinGen:CA10613696C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*438C>T4719NDUFS1Uncertain significancers561980718RCV000307565|RCV000364628; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206988471206988471GA2:g.206988471G>AClinGen:CA10612577C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*426T>G4719NDUFS1Conflicting interpretations of pathogenicityrs114402169RCV001138693|RCV001138694|RCV001856776; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022206988483206988483AC2:g.206988483A>C-
NM_005006.7(NDUFS1):c.*399G>A4719NDUFS1Benign/Likely benignrs77000728RCV000310899|RCV000402213|RCV001653618; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022206988510206988510CT2:g.206988510C>TClinGen:CA10613952C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*341A>G4719NDUFS1Conflicting interpretations of pathogenicityrs150214409RCV001141270|RCV001141271|RCV001786443; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022206988568206988568TC2:g.206988568T>C-
NM_005006.7(NDUFS1):c.*336G>T4719NDUFS1Benignrs1044120RCV000275804|RCV000368047|RCV001636929; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022206988573206988573CA2:g.206988573C>AClinGen:CA10612578C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*256C>T4719NDUFS1Benign/Likely benignrs10198830RCV000333555|RCV000353381|RCV001711947; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022206988653206988653GA2:g.206988653G>AClinGen:CA10612152C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*158T>C4719NDUFS1Benign/Likely benignrs3770989RCV000260695|RCV000318219; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206988751206988751AG2:g.206988751A>GClinGen:CA10613697C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*151T>C4719NDUFS1Uncertain significancers533179154RCV000283276|RCV000375427; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206988758206988758AG2:g.206988758A>GClinGen:CA10612579C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*130A>C4719NDUFS1Uncertain significancers200736574RCV001143107|RCV001143108; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206988779206988779TG2:g.206988779T>G-
NM_005006.7(NDUFS1):c.*53T>G4719NDUFS1Benign/Likely benignrs116335919RCV001143110|RCV001143109|RCV001552479; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022206988856206988856AC2:g.206988856A>C-
NM_005006.7(NDUFS1):c.*27C>T4719NDUFS1Uncertain significancers369746514RCV000288060|RCV000345317; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988882206988882GA2:g.206988882G>AClinGen:CA2070238C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.2092+9T>C4719NDUFS1Uncertain significancers1173129542RCV001332552; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206991254206991254AG206991254-
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)4719NDUFS1Uncertain significancers142716964RCV000291718|RCV000397460|RCV001824308|RCV001841256; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:6182262206991447206991447TC2:g.206991447T>CClinGen:CA2070307C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)4719NDUFS1Uncertain significancers769276632RCV001136551|RCV001136552; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206991484206991484CT2:g.206991484C>T-
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)4719NDUFS1Uncertain significancers773111037RCV001136553|RCV001136554; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206992657206992657AG2:g.206992657A>G-
NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser)4719NDUFS1Uncertain significancers762228459RCV001332551; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206994896206994896GA206994896-
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)4719NDUFS1Uncertain significancers138887128RCV001138790|RCV001138791|RCV001799736; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022206994908206994908GA2:g.206994908G>A-
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)4719NDUFS1Conflicting interpretations of pathogenicityrs201806038RCV000195446|RCV001138792|RCV001138793; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206994920206994920CT2:g.206994920C>TClinGen:CA319780CN169374 not specified;
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)4719NDUFS1Uncertain significancers1434275816RCV001138794|RCV001138795; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206997697206997697CA2:g.206997697C>A-
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)4719NDUFS1Uncertain significancers137889316RCV000348996|RCV000397471|RCV001728094|RCV001861145; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:CN5172022206997706206997706CT2:g.206997706C>TClinGen:CA2070426C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1393-7T>A4719NDUFS1Benign/Likely benignrs200409285RCV001141371|RCV001141370|RCV001510839; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022206997836206997836AT2:g.206997836A>T-
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)4719NDUFS1Conflicting interpretations of pathogenicityrs2230892RCV000127145|RCV000298259|RCV000399898|RCV000676270|RCV001000338; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:6182262207003230207003230CT2:g.207003230C>TClinGen:CA292489C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val)4719NDUFS1Uncertain significancers758095913RCV000262962|RCV000355346; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207003238207003238TC2:g.207003238T>CClinGen:CA2070480C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)4719NDUFS1Conflicting interpretations of pathogenicityrs78042826RCV000195297|RCV000513877|RCV000605317|RCV001143217|RCV001143218|RCV001282631; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:6182262207003310207003310GC2:g.207003310G>CClinGen:CA232547C1838979 252010 Mitochondrial complex I deficiency;
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)4719NDUFS1Uncertain significancers78042826RCV001141372|RCV001141373; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207003310207003310GA2:g.207003310G>A-
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)4719NDUFS1Benignrs1801318RCV000117709|RCV000301574|RCV000358690|RCV000676271|RCV001778737; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:6182262207006676207006676TC2:g.207006676T>CClinGen:CA153859C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del)4719NDUFS1Uncertain significancers1559055100RCV001335222; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207006727207006729GAACG207006726-
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)4719NDUFS1Uncertain significancers765436915RCV000266394|RCV000323881|RCV000519440; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207007423207007423TC2:g.207007423T>CClinGen:CA2070563C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)4719NDUFS1Conflicting interpretations of pathogenicityrs112026097RCV000429059|RCV001143219|RCV001143220|RCV001512828; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022207007481207007481GA2:g.207007481G>AClinGen:CA2070575CN169374 not specified;
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)4719NDUFS1Uncertain significancers774232299RCV001136653|RCV001136654; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062207008743207008743AG2:g.207008743A>G-
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=)4719NDUFS1Benign/Likely benignrs2230890RCV000127141|RCV000270808|RCV000381710|RCV002055703; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207008754207008754GA2:g.207008754G>AClinGen:CA292484C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)4719NDUFS1Benignrs1127566RCV000117710|RCV000328157|RCV000385000|RCV000676273|RCV001778738; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:6182262207008763207008763CA2:g.207008763C>AClinGen:CA153862C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser)4719NDUFS1Likely pathogenicrs1485032272RCV000768439; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207009643207009643TCNC_000002.11:g.207009643T>C-
NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)4719NDUFS1Uncertain significancers142941808RCV001335223; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207009662207009662GA207009662-
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)4719NDUFS1Uncertain significancers148726142RCV001136655|RCV001136656; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062207009720207009720CT2:g.207009720C>T-
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)4719NDUFS1Conflicting interpretations of pathogenicityrs148544177RCV000419653|RCV001138899|RCV001138898|RCV002061445; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022207011753207011753AG2:g.207011753A>GClinGen:CA2070717CN169374 not specified;
NM_005006.7(NDUFS1):c.551+14C>A4719NDUFS1Benign/Likely benignrs10206644RCV000127140|RCV000293249|RCV000350546|RCV001523312; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207012241207012241GT2:g.207012241G>TClinGen:CA292483C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val)4719NDUFS1Uncertain significancers764520533RCV001332554|RCV001365457; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207012330207012330GA207012330-
NM_005006.7(NDUFS1):c.421-7A>G4719NDUFS1Conflicting interpretations of pathogenicityrs192949406RCV000127139|RCV000296747|RCV000388644|RCV000888456; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207012392207012392TC2:g.207012392T>CClinGen:CA292482C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)4719NDUFS1Benign/Likely benignrs11548670RCV000127138|RCV000334929|RCV000395218|RCV000676275; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022207012483207012483AG2:g.207012483A>GClinGen:CA292480C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu)4719NDUFS1Uncertain significancers757139275RCV000299872|RCV000338484; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207012501207012501GT2:g.207012501G>TClinGen:CA2070790C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr)4719NDUFS1Uncertain significancers886055502RCV000303664|RCV000395226; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062207012533207012533CT2:g.207012533C>TClinGen:CA2070794C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)4719NDUFS1Uncertain significancers780235386RCV001141490|RCV001141489; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062207012536207012536AG2:g.207012536A>G-
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly)4719NDUFS1Uncertain significancers1692265722RCV001141492|RCV001141491; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207013745207013745TC2:g.207013745T>C-
NM_005006.7(NDUFS1):c.280A>G (p.Met94Val)4719NDUFS1Uncertain significancers763697779RCV001332553|RCV001859297; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207013802207013802TC207013802-
NM_005006.7(NDUFS1):c.261+6T>C4719NDUFS1Uncertain significancers748906579RCV001143328|RCV001143327; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207014536207014536AG2:g.207014536A>G-
NM_005006.7(NDUFS1):c.123C>T (p.Val41=)4719NDUFS1Benign/Likely benignrs2230888RCV000127147|RCV000275731|RCV000386489|RCV002055704; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022207017173207017173GA2:g.207017173G>AClinGen:CA292492C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)4719NDUFS1Uncertain significancers774332882RCV001143330|RCV001143329; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207017226207017226TC2:g.207017226T>C-
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)4719NDUFS1Pathogenicrs750971390RCV000768438; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207017232207017232GANC_000002.11:g.207017232G>A-
NM_005006.7(NDUFS1):c.63T>C (p.Val21=)4719NDUFS1Conflicting interpretations of pathogenicityrs756632601RCV001143331|RCV001143332|RCV002070724; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207017233207017233AG2:g.207017233A>G-
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu)4719NDUFS1Uncertain significancers1367512688RCV001136756|RCV001136757; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062207018371207018371AT2:g.207018371A>T-
NM_005006.7(NDUFS1):c.-31A>G4719NDUFS1Uncertain significancers1687818178RCV001136759|RCV001136758; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062207024091207024091TC2:g.207024091T>C-
NM_005006.7(NDUFS1):c.-38T>G4719NDUFS1Uncertain significancers1559071008RCV001136760|RCV001136761; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207024098207024098AC2:g.207024098A>C-
NM_005006.7(NDUFS1):c.-47C>G4719NDUFS1Benignrs4147707RCV000333207|RCV000371529|RCV001672569; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172022207024107207024107GCNC_000002.11:g.207024107G>CClinGen:CA10612589C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.-61G>C4719NDUFS1Uncertain significancers367762150RCV001138989|RCV001138990; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062207024121207024121CG2:g.207024121C>G-
NM_005006.7(NDUFS1):c.-64T>C4719NDUFS1Conflicting interpretations of pathogenicityrs145023130RCV001138992|RCV001138991; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207024124207024124AG2:g.207024124A>G-
NM_005006.7(NDUFS1):c.-73C>A4719NDUFS1Uncertain significancers367649369RCV001138994|RCV001138993; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062207024133207024133GT2:g.207024133G>T-
NM_005006.7(NDUFS1):c.-75A>G4719NDUFS1Uncertain significancers138818421RCV001138995|RCV001138996; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207024135207024135TC2:g.207024135T>C-
NM_005006.7(NDUFS1):c.-76G>A4719NDUFS1Conflicting interpretations of pathogenicityrs116137442RCV001141606|RCV001141607|RCV001786444; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207024136207024136CT2:g.207024136C>T-
NM_005006.7(NDUFS1):c.-101G>A4719NDUFS1Uncertain significancers983757976RCV001141608|RCV001141609; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207024161207024161CT2:g.207024161C>T-
NC_000002.12:g.206159485A>C4719NDUFS1Uncertain significancers572965960RCV001141610|RCV001141611; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207024209207024209AC2:g.207024209A>C-
NM_004550.5(NDUFS2):c.-388G>A4720NDUFS2Uncertain significancers3813623RCV000278644; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161169165161169165GANC_000001.10:g.161169165G>AClinGen:CA10608511C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-388G>T4720NDUFS2Benignrs3813623RCV000336009|RCV001610796; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161169165161169165GT1:g.161169165G>TClinGen:CA10608534C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-346G>A4720NDUFS2Uncertain significancers189165754RCV000400511; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161169207161169207GANC_000001.10:g.161169207G>AClinGen:CA10608140C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-298C>G4720NDUFS2Uncertain significancers41270845RCV000305513; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161169255161169255CGNC_000001.10:g.161169255C>GClinGen:CA10608537C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-223C>G4720NDUFS2Conflicting interpretations of pathogenicityrs74124661RCV000127153|RCV001100892; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161171953161171953CG1:g.161171953C>GClinGen:CA292500CN169374 not specified;
NM_004550.5(NDUFS2):c.-218G>A4720NDUFS2Uncertain significancers563669084RCV000357971; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161171958161171958GANC_000001.10:g.161171958G>AClinGen:CA10608538C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-159C>A4720NDUFS2Uncertain significancers886045456RCV000400876; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172017161172017CANC_000001.10:g.161172017C>AClinGen:CA10608540C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-156G>A4720NDUFS2Uncertain significancers886045457RCV000308844; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172020161172020GANC_000001.10:g.161172020G>AClinGen:CA10607980C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-28C>T4720NDUFS2Uncertain significancers886045458RCV000366006; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172148161172148CTNC_000001.10:g.161172148C>TClinGen:CA10607984C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-20C>T4720NDUFS2Conflicting interpretations of pathogenicityrs201554004RCV000127154|RCV000269081; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172156161172156CT1:g.161172156C>TClinGen:CA292501C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr)4720NDUFS2Benignrs11538340RCV000326214|RCV001001508|RCV000676341; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MedGen:CN5172021161172233161172233CA1:g.161172233C>AClinGen:CA1208457,UniProtKB:O75306#VAR_034150C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.95+14C>T4720NDUFS2Uncertain significancers751472475RCV000369303; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172284161172284CTNC_000001.10:g.161172284C>TClinGen:CA1208472C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)4720NDUFS2Uncertain significancers886045459RCV000276914; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161173229161173229GANC_000001.10:g.161173229G>AClinGen:CA10607985C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=)4720NDUFS2Conflicting interpretations of pathogenicityrs145578059RCV000909958|RCV001097157; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161173248161173248AG1:g.161173248A>G-
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)4720NDUFS2Uncertain significancers774162709RCV000195688|RCV001332476; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161173289161173289AG1:g.161173289A>GClinGen:CA320051CN169374 not specified;
NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=)4720NDUFS2Uncertain significancers569128565RCV000329593; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161173293161173293AGNC_000001.10:g.161173293A>GClinGen:CA1208491C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val)4720NDUFS2Uncertain significancers754241926RCV000386683|RCV001859752; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161176331161176331AGNC_000001.10:g.161176331A>GClinGen:CA1208536C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=)4720NDUFS2Uncertain significancers140324736RCV000280649; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161179030161179030CTNC_000001.10:g.161179030C>TClinGen:CA1208573C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.514+11C>T4720NDUFS2Conflicting interpretations of pathogenicityrs76309459RCV000127148|RCV000319217|RCV002055705; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161179114161179114CT1:g.161179114C>TClinGen:CA292494C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.515-3C>A4720NDUFS2Conflicting interpretations of pathogenicityrs149789018RCV000371628|RCV000929918; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161179270161179270CANC_000001.10:g.161179270C>AClinGen:CA1208605C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=)4720NDUFS2Conflicting interpretations of pathogenicityrs41428447RCV000196671|RCV000927692|RCV001098903; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161179298161179298GA1:g.161179298G>AClinGen:CA321095CN169374 not specified;
NM_001377299.1(NDUFS2):c.628-17del4720NDUFS2Conflicting interpretations of pathogenicityrs775653766RCV001335147|RCV002070198; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161179628161179628TCT161179627-
NM_001377299.1(NDUFS2):c.628-12C>T4720NDUFS2Conflicting interpretations of pathogenicityrs202121443RCV000127149|RCV000286025|RCV002055706; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161179635161179635CT1:g.161179635C>TClinGen:CA292495C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.703-11T>G4720NDUFS2Uncertain significancers770054202RCV000984961; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161179890161179890TG1:g.161179890T>G-
NM_001377299.1(NDUFS2):c.866+8G>A4720NDUFS2Conflicting interpretations of pathogenicityrs142594036RCV000127150|RCV000949872|RCV001098904; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161180187161180187GA1:g.161180187G>AClinGen:CA292496CN169374 not specified;
NM_001377299.1(NDUFS2):c.867T>C (p.Ser289=)4720NDUFS2Uncertain significancers886045461RCV000397307; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161180381161180381TCNC_000001.10:g.161180381T>CClinGen:CA10608552C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.903C>T (p.Asp301=)4720NDUFS2Uncertain significancers886045462RCV000284939; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161180417161180417CTNC_000001.10:g.161180417C>TClinGen:CA10608513C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)4720NDUFS2Conflicting interpretations of pathogenicityrs144937332RCV000200866|RCV000346933|RCV000766503; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161180473161180473TC1:g.161180473T>CClinGen:CA325447C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)4720NDUFS2Conflicting interpretations of pathogenicityrs35086265RCV000198518|RCV000224386|RCV000986449|RCV001098905; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161180482161180482GA1:g.161180482G>AClinGen:CA323026CN517202 not provided;
NM_001377299.1(NDUFS2):c.986+12A>G4720NDUFS2Benign/Likely benignrs11265565RCV000127151|RCV000397312|RCV002055707; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161180512161180512AG1:g.161180512A>GClinGen:CA292497C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala)4720NDUFS2Benign/Likely benignrs11576415RCV000117711|RCV000306851|RCV000676342; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161182208161182208CG1:g.161182208C>GClinGen:CA153865,UniProtKB:O75306#VAR_034152C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)4720NDUFS2Uncertain significancers144411579RCV000725777|RCV001001527|RCV001100725; NMedGen:CN517202|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161183191161183191CG1:g.161183191C>GClinGen:CA321716CN169374 not specified;
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=)4720NDUFS2Uncertain significancers145959971RCV000199124|RCV000761488; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161183265161183265GA1:g.161183265G>AClinGen:CA323661CN169374 not specified;
NM_001377299.1(NDUFS2):c.1212+7A>G4720NDUFS2Conflicting interpretations of pathogenicityrs36233987RCV000363834|RCV000955805; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161183272161183272AGNC_000001.10:g.161183272A>GClinGen:CA1208803C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=)4720NDUFS2Uncertain significancers886045464RCV000315544; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161183441161183441AGNC_000001.10:g.161183441A>GClinGen:CA10608144C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=)4720NDUFS2Benignrs1136207RCV000117712|RCV000367763|RCV000676343; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161183516161183516CT1:g.161183516C>TClinGen:CA153867C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1354+5G>A4720NDUFS2Conflicting interpretations of pathogenicityrs190184430RCV000127152|RCV000275644|RCV001303885; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161183716161183716GA1:g.161183716G>AClinGen:CA292498C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1354+10C>A4720NDUFS2Conflicting interpretations of pathogenicityrs201275792RCV000318843|RCV000840975; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161183721161183721CANC_000001.10:g.161183721C>AClinGen:CA1208856C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1355-4C>G4720NDUFS2Conflicting interpretations of pathogenicityrs147235167RCV000885375|RCV001100981; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161183942161183942CG1:g.161183942C>GClinGen:CA1208875CN169374 not specified;
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr)4720NDUFS2Uncertain significancers140731056RCV001100982; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161183958161183958TC1:g.161183958T>C-
NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=)4720NDUFS2Conflicting interpretations of pathogenicityrs149953813RCV000968828|RCV001100983; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161183962161183962AG1:g.161183962A>G-
NM_001377299.1(NDUFS2):c.*108A>T4720NDUFS2Conflicting interpretations of pathogenicityrs191955041RCV000320283|RCV001539894; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161184091161184091ATNC_000001.10:g.161184091A>TClinGen:CA10608146C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.*114A>G4720NDUFS2Benignrs1136224RCV000377195|RCV001711872; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161184097161184097AGNC_000001.10:g.161184097A>GClinGen:CA10608523C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.*187G>A4720NDUFS2Uncertain significancers886045469RCV000289999; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161184170161184170GA1:g.161184170G>AClinGen:CA10607990C1838979 252010 Mitochondrial complex I deficiency;
NM_004551.3(NDUFS3):c.-15C>G4722NDUFS3Uncertain significancers950097510RCV001103764|RCV001103765; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760062947600629CG11:g.47600629C>G-
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys)4722NDUFS3Uncertain significancers201457989RCV001103766|RCV001103767; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760067747600677CT11:g.47600677C>T-
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser)4722NDUFS3Conflicting interpretations of pathogenicityrs368907187RCV000197472|RCV000342182|RCV000403906; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010114760083247600832CTNC_000011.9:g.47600832C>TClinGen:CA321939C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)4722NDUFS3Conflicting interpretations of pathogenicityrs770306617RCV000301677|RCV000358793|RCV000616791; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374114760084447600844TC11:g.47600844T>CClinGen:CA5977804C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)4722NDUFS3Conflicting interpretations of pathogenicityrs141187412RCV000200026|RCV001105706|RCV001105707; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760087647600876CTNC_000011.9:g.47600876C>TClinGen:CA324576CN169374 not specified;
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln)4722NDUFS3Uncertain significancers1555198759RCV000623097|RCV001105709|RCV001105708; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760209247602092GA11:g.47602092G>AClinGen:CA380357590C0950123 Inborn genetic diseases;
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His)4722NDUFS3Uncertain significancers886048391RCV000261687|RCV000300392; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010114760213347602133TC11:g.47602133T>CClinGen:CA10631038C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.381+5G>T4722NDUFS3Uncertain significancers886048392RCV000261462|RCV000352949; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760254147602541GT11:g.47602541G>TClinGen:CA10635057C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.381+6T>C4722NDUFS3Uncertain significancers377579231RCV000332963|RCV000389911|RCV001374465|RCV001859811; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:CN517202114760254247602542TC11:g.47602542T>CClinGen:CA5977940,OMIM:603846.0004C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His)4722NDUFS3Uncertain significancers780005953RCV001106824|RCV001106825; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760368347603683GA11:g.47603683G>A-
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)4722NDUFS3Conflicting interpretations of pathogenicityrs148331180RCV000274500|RCV000331648|RCV000884571; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202114760373347603733GCNC_000011.9:g.47603733G>CClinGen:CA320767C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)4722NDUFS3Conflicting interpretations of pathogenicityrs77113494RCV000127155|RCV001000472|RCV000969794|RCV001107482|RCV001107483; NMedGen:CN169374|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760398447603984TC11:g.47603984T>CClinGen:CA292502CN169374 not specified;
NM_004551.3(NDUFS3):c.628-7C>T4722NDUFS3Conflicting interpretations of pathogenicityrs11039306RCV000127156|RCV000292090|RCV000383892|RCV000964320; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202114760585947605859CTNC_000011.9:g.47605859C>TClinGen:CA292504C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.657G>A (p.Val219=)4722NDUFS3Conflicting interpretations of pathogenicityrs377323760RCV000325919|RCV000382544|RCV002056209; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202114760589547605895GANC_000011.9:g.47605895G>AClinGen:CA5978068C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His)4722NDUFS3Uncertain significancers201371939RCV001107484|RCV001107485; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010114760597547605975GA11:g.47605975G>A-
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)4722NDUFS3Conflicting interpretations of pathogenicityrs3740654RCV000614898|RCV001103853|RCV001103854; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760598547605985GA11:g.47605985G>AClinGen:CA5978089CN169374 not specified;
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg)4722NDUFS3Uncertain significancers752314902RCV000285816|RCV000342978; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010114760599147605991TGNC_000011.9:g.47605991T>GClinGen:CA5978093C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)4722NDUFS3Conflicting interpretations of pathogenicityrs117981655RCV000284678|RCV000406732|RCV000939941; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202114760602147606021TCNC_000011.9:g.47606021T>CClinGen:CA5978099C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.*32G>A4722NDUFS3Uncertain significancers189495301RCV001103855|RCV001103856; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010114760606547606065GA11:g.47606065G>A-
NM_004551.3(NDUFS3):c.*39C>T4722NDUFS3Uncertain significancers145121567RCV001105801|RCV001105800; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506114760607247606072CT11:g.47606072C>T-
NM_002495.4(NDUFS4):c.-22C>A4724NDUFS4Uncertain significancers144843461RCV000268982|RCV000365896; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055285647152856471CA5:g.52856471C>AClinGen:CA3264111C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.-6A>T4724NDUFS4Conflicting interpretations of pathogenicityrs73754255RCV000198638|RCV001151560|RCV001151559; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055285648752856487AT5:g.52856487A>TClinGen:CA323173CN169374 not specified;
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)4724NDUFS4Uncertain significancers148595893RCV001154571|RCV001154572|RCV001824417; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720255285649752856497CA5:g.52856497C>A-
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)4724NDUFS4Uncertain significancers1329465366RCV001154573|RCV001154574; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055285650152856501GT5:g.52856501G>T-
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)4724NDUFS4Conflicting interpretations of pathogenicityrs185711494RCV000335188|RCV000960853|RCV001154575|RCV001154576; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055285650252856502GC5:g.52856502G>CClinGen:CA325091CN169374 not specified;
NM_002495.4(NDUFS4):c.12G>C (p.Val4=)4724NDUFS4Benignrs2279516RCV000117713|RCV000326276|RCV000387876|RCV000676473; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720255285650452856504GC5:g.52856504G>CClinGen:CA153869C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)4724NDUFS4Uncertain significancers149323691RCV000198881|RCV000329830|RCV000295911|RCV000660466; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:260955285650552856505TC5:g.52856505T>CClinGen:CA323413C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter)4724NDUFS4Pathogenicrs104893899RCV000007293; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055285653652856536GA5:g.52856536G>AClinGen:CA118550,OMIM:602694.0004C1838979 252010 Mitochondrial complex I deficiency;
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)4724NDUFS4Uncertain significancers201430870RCV001155412|RCV001155411; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655285656952856569CT5:g.52856569C>T-
NM_002495.4(NDUFS4):c.99-1G>A4724NDUFS4Pathogenicrs376281345RCV000007294|RCV000588112; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655289928152899281GANC_000005.9:g.52899281G>AClinGen:CA3264179,OMIM:602694.0005C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)4724NDUFS4Conflicting interpretations of pathogenicityrs138941073RCV000127157|RCV000280441|RCV000386502|RCV000905987; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720255289928552899285GANC_000005.9:g.52899285G>AClinGen:CA292505C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys)4724NDUFS4Uncertain significancers1022912416RCV001157093|RCV001157094; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655289929052899290GA5:g.52899290G>A-
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)4724NDUFS4Conflicting interpretations of pathogenicityrs142368721RCV000906096|RCV001157095|RCV001157096; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055289933352899333AG5:g.52899333A>GClinGen:CA3264190CN169374 not specified;
NM_002495.4(NDUFS4):c.178-4G>C4724NDUFS4Uncertain significancers200384843RCV000337873|RCV000395461; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655294205952942059GC5:g.52942059G>CClinGen:CA3264238C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)4724NDUFS4Benignrs31304RCV000117714|RCV000280222|RCV000342200|RCV000676474; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720255294208352942083AC5:g.52942083A>CClinGen:CA153871C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)4724NDUFS4Pathogenicrs121908985RCV000007291|RCV000484109; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720255294217552942175TGTNC_000005.9:g.52942176delClinGen:CA118547,OMIM:602694.0002
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)4724NDUFS4Benignrs31303RCV000117715|RCV000302455|RCV000398452|RCV000676475; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720255294219752942197AG5:g.52942197A>GClinGen:CA153873C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)4724NDUFS4Pathogenicrs104893898RCV000578296|RCV000735424; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055294220152942201CT5:g.52942201C>TClinGen:CA118548,OMIM:602694.0003C1838951 Leigh syndrome due to mitochondrial complex I deficiency;
NM_002495.4(NDUFS4):c.350+5G>A4724NDUFS4Pathogenicrs1751865973RCV001269385|RCV001291034; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010; Human Phenotype Ontology:HP:0002376,Human Phenotype Ontology:HP:0002471,Human Phenotype Ontology:HP:0002489,Human Phenotype Ontology:HP:0006797,Human Phenotype Ontology:HP:0006828,Human Phenotype Ontology:55294224052942240GA5:g.52942240G>AOMIM:602694.0007
NM_002495.4(NDUFS4):c.350+6T>C4724NDUFS4Uncertain significancers3733833RCV001151647|RCV001151648; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055294224152942241TC5:g.52942241T>C-
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=)4724NDUFS4Conflicting interpretations of pathogenicityrs368876333RCV000911644|RCV001154689|RCV001154690; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655295439052954390CG5:g.52954390C>G-
NM_002495.4(NDUFS4):c.424+19dup4724NDUFS4Benign/Likely benignrs140172554RCV000310876|RCV000363200|RCV001515833|RCV001778936; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295446852954469GGT5:g.52954468_52954469insTClinGen:CA3264304C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)4724NDUFS4Pathogenicrs587776949RCV000133549|RCV000197700|RCV000586784; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655297898252978982CACNC_000005.9:g.52978985delClinGen:CA130809,OMIM:602694.0006C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)4724NDUFS4Pathogenicrs1445075330RCV000007290|RCV001269113; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655297898752978988CCCAAGT5:g.52978987_52978988insCAAGTOMIM:602694.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs)4724NDUFS4Likely pathogenicrs766516611RCV001260294; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055297899652978997AAGTCTT5:g.52978996_52978997insGTCTT-
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr)4724NDUFS4Uncertain significancers768080528RCV001328959; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055297902952979029GC52979029-
NM_002495.4(NDUFS4):c.*46G>A4724NDUFS4Benignrs567RCV000270413|RCV000313869|RCV001653697; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720255297909752979097GA5:g.52979097G>AClinGen:CA3264378C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.*79A>G4724NDUFS4Uncertain significancers886060699RCV000274350|RCV000370910; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055297913052979130AGNC_000005.9:g.52979130A>GClinGen:CA10624967C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.*88T>A4724NDUFS4Uncertain significancers1740746273RCV001154692|RCV001154691; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655297913952979139TA5:g.52979139T>A-
NM_004553.4(NDUFS6):c.-12C>T4726NDUFS6Conflicting interpretations of pathogenicityrs145747389RCV000127158|RCV000328048|RCV001000551; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032615,MedGen:C4748767,OMIM:618232518015201801520CT5:g.1801520C>TClinGen:CA292507C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val)4726NDUFS6Uncertain significancers773943416RCV001151849; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518015421801542CT5:g.1801542C>T-
NM_004553.6(NDUFS6):c.24C>T (p.Cys8=)4726NDUFS6Conflicting interpretations of pathogenicityrs886060511RCV000384846|RCV000942799; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202518015551801555CTNC_000005.9:g.1801555C>TClinGen:CA10620253C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp)4726NDUFS6Conflicting interpretations of pathogenicityrs376509886RCV000917913|RCV001151850|RCV001276588; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609518015561801556CT5:g.1801556C>T-
NM_004553.6(NDUFS6):c.27G>C (p.Arg9=)4726NDUFS6Uncertain significancers886060512RCV000283526; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518015581801558GCNC_000005.9:g.1801558G>CClinGen:CA10624440C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)4726NDUFS6Conflicting interpretations of pathogenicityrs755222875RCV000901142|RCV001153088|RCV001276589; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609518015621801562CG5:g.1801562C>G-
NM_004553.6(NDUFS6):c.155G>C (p.Arg52Thr)4726NDUFS6Uncertain significancers768060274RCV000322258; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518024571802457GCNC_000005.9:g.1802457G>CClinGen:CA10624315C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=)4726NDUFS6Conflicting interpretations of pathogenicityrs140887831RCV000378962|RCV000909647|RCV001271674; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609518144641814464CTNC_000005.9:g.1814464C>TClinGen:CA3187621C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.310-15T>C4726NDUFS6Benignrs10058270RCV000287086|RCV001513342|RCV001543892; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032615,MedGen:C4748767,OMIM:618232518159501815950TCNC_000005.9:g.1815950T>CClinGen:CA3187709C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.369C>T (p.His123=)4726NDUFS6Uncertain significancers745565855RCV000335066; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518160241816024CTNC_000005.9:g.1816024C>TClinGen:CA3187728C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.*15C>T4726NDUFS6Conflicting interpretations of pathogenicityrs200445799RCV000396662|RCV000444385; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374518160451816045CTNC_000005.9:g.1816045C>TClinGen:CA3187732C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.*27A>G4726NDUFS6Uncertain significancers370587409RCV000281355; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518160571816057AGNC_000005.9:g.1816057A>GClinGen:CA3187739C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.*46C>T4726NDUFS6Conflicting interpretations of pathogenicityrs145407020RCV001155705|RCV001541796; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202518160761816076CT5:g.1816076C>T-
NM_004553.6(NDUFS6):c.*99G>C4726NDUFS6Uncertain significancers994577006RCV001155706; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518161291816129GC5:g.1816129G>C-
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val)374291NDUFS7Uncertain significancers775410920RCV001126807|RCV001127210; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061913839301383930CT19:g.1383930C>T-
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)374291NDUFS7Uncertain significancers201222388RCV000287249|RCV000400936; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913878141387814TCNC_000019.9:g.1387814T>CClinGen:CA9043014C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=)374291NDUFS7Uncertain significancers1193585808RCV001127212|RCV001127211; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913878381387838TG19:g.1387838T>G-
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)374291NDUFS7Benignrs1142530RCV000117716|RCV000342300|RCV000407392|RCV000676449|RCV001544211; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032608,MedGen:C4748752,OMIM:6182241913885381388538CT19:g.1388538C>TClinGen:CA153875,UniProtKB:O75251#VAR_014482C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)374291NDUFS7Conflicting interpretations of pathogenicityrs147710123RCV001127213|RCV001123144|RCV001698192; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021913888471388847GA19:g.1388847G>AClinGen:CA9043125CN169374 not specified;
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)374291NDUFS7Conflicting interpretations of pathogenicityrs140236960RCV000127162|RCV000301558|RCV000365710|RCV000885712; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021913888621388862CTNC_000019.9:g.1388862C>TClinGen:CA292511C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)374291NDUFS7Uncertain significancers565395435RCV001123145|RCV001123146; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913888671388867CT19:g.1388867C>T-
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=)374291NDUFS7Conflicting interpretations of pathogenicityrs375120743RCV000307576|RCV000405173|RCV000891844; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021913909111390911CTNC_000019.9:g.1390911C>TClinGen:CA9043328C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met)374291NDUFS7Uncertain significancers368174338RCV000277814|RCV000362301; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913909631390963GANC_000019.9:g.1390963G>AClinGen:CA9043332C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.408+10G>T374291NDUFS7Benignrs2074896RCV000127163|RCV000332803|RCV000368788|RCV000676450; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021913910591391059GTNC_000019.9:g.1391059G>TClinGen:CA292513C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.455+13C>T374291NDUFS7Uncertain significancers376025020RCV001124228|RCV001124230; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061913911771391177CT19:g.1391177C>T-
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)374291NDUFS7Conflicting interpretations of pathogenicityrs757488156RCV001124231|RCV001124232|RCV001569783; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021913933101393310CT19:g.1393310C>T-
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=)374291NDUFS7Uncertain significancers144570086RCV000274190|RCV000319795; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061913954061395406CA19:g.1395406C>AClinGen:CA10642357C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly)374291NDUFS7Uncertain significancers775856806RCV000197172|RCV000279854|RCV000374513; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061913954581395458CG19:g.1395458C>GClinGen:CA321615C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.*8G>A374291NDUFS7Uncertain significancers756081375RCV000290128|RCV000398809; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913954951395495GA19:g.1395495G>AClinGen:CA9043498C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.*16C>T374291NDUFS7Conflicting interpretations of pathogenicityrs573586959RCV000200114|RCV001127321|RCV001126907; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913955031395503CT19:g.1395503C>TClinGen:CA324673CN169374 not specified;
NM_024407.5(NDUFS7):c.*94G>A374291NDUFS7Uncertain significancers1329105128RCV001127322|RCV001127323; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061913955811395581GA19:g.1395581G>A-
NM_002496.4(NDUFS8):c.-45A>C4728NDUFS8Benign/Likely benignrs4147776RCV000127164|RCV001108402|RCV001108401; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116779815667798156ACNC_000011.9:g.67798156A>CClinGen:CA292514CN169374 not specified;
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)4728NDUFS8Conflicting interpretations of pathogenicityrs150278938RCV000726015|RCV000765008|RCV001108403; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116779962267799622CTNC_000011.9:g.67799622C>TClinGen:CA324025
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)4728NDUFS8Uncertain significancers139334907RCV001103230|RCV001103231; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116779962367799623GA11:g.67799623G>A-
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)4728NDUFS8Conflicting interpretations of pathogenicityrs142658611RCV000923575|RCV001103232|RCV001103233; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116779963767799637CA11:g.67799637C>A-
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)4728NDUFS8Uncertain significancers764943259RCV000317408|RCV000372098; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116780041367800413GA11:g.67800413G>AClinGen:CA6146386C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.199+5G>A4728NDUFS8Uncertain significancers373522607RCV000282341|RCV000337029; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116780048467800484GANC_000011.9:g.67800484G>AClinGen:CA6146399C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.199+15T>G4728NDUFS8Benignrs3115545RCV000283040|RCV000377576|RCV001515841|RCV001778899; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032606,MedGen:C4748737,OMIM:618222116780049467800494TGNC_000011.9:g.67800494T>GClinGen:CA6146400C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.200-14C>T4728NDUFS8Uncertain significancers373128833RCV000342747|RCV000401109; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116780056467800564CTNC_000011.9:g.67800564C>TClinGen:CA6146422C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)4728NDUFS8Conflicting interpretations of pathogenicityrs144125742RCV000431887|RCV000676967|RCV001111479|RCV001111480; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116780063367800633GA11:g.67800633G>AClinGen:CA6146432CN517202 not provided;
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)4728NDUFS8Uncertain significancers746246241RCV001111481|RCV001111482; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116780064767800647CT11:g.67800647C>T-
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)4728NDUFS8Conflicting interpretations of pathogenicityrs748754134RCV000307867|RCV000344135|RCV000490220; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116780067767800677CTNC_000011.9:g.67800677C>TClinGen:CA6146437C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)4728NDUFS8Conflicting interpretations of pathogenicityrs149201273RCV000308579|RCV000390917|RCV000907728; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116780380667803806CTNC_000011.9:g.67803806C>TClinGen:CA6146535C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.501+12C>G4728NDUFS8Conflicting interpretations of pathogenicityrs372004236RCV000367973|RCV000390827|RCV002056233; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116780386067803860CGNC_000011.9:g.67803860C>GClinGen:CA10631392C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.502-13C>T4728NDUFS8Conflicting interpretations of pathogenicityrs199793417RCV000314847|RCV000369510|RCV000427186|RCV002056234; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN517202116780391667803916CTNC_000011.9:g.67803916C>TClinGen:CA6146555C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.502-10C>T4728NDUFS8Conflicting interpretations of pathogenicityrs369961682RCV000260796|RCV000315895|RCV000602666|RCV000898642; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN517202116780391967803919CTNC_000011.9:g.67803919C>TClinGen:CA6146557C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)4728NDUFS8Uncertain significancers1371377502RCV001114883|RCV001114884; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116780400167804001GA11:g.67804001G>A-
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)4728NDUFS8Conflicting interpretations of pathogenicityrs1804688RCV000265926|RCV000356692|RCV001718621; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116780402467804024CTNC_000011.9:g.67804024C>TClinGen:CA6146575C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr)4728NDUFS8Uncertain significancers578145610RCV000321000|RCV000380344; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116780402567804025GANC_000011.9:g.67804025G>AClinGen:CA6146577C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.*26T>G4728NDUFS8Uncertain significancers886048592RCV000291771|RCV000381321; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116780408667804086TGNC_000011.9:g.67804086T>GClinGen:CA10631394C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.*44C>T4728NDUFS8Uncertain significancers201815115RCV000293152|RCV000352578; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116780410467804104CTNC_000011.9:g.67804104C>TClinGen:CA6146595C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.*14C>T-1NDUFS8;TCIRG1Benign/Likely benignrs1051806RCV000285968|RCV000313524|RCV000326666|RCV001114885|RCV001653506; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454, Orphanet:2781|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C116780407467804074CTNC_000011.9:g.67804074C>TClinGen:CA6146588C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.*40A>G-1NDUFS8;TCIRG1Conflicting interpretations of pathogenicityrs61329983RCV000346629|RCV000370635|RCV000399461|RCV001109242|RCV001660604; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454, Orphanet:2781|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C116780410067804100AGNC_000011.9:g.67804100A>GClinGen:CA6146593C0023264 256000 Leigh syndrome;
NC_000011.10:g.67606846G>T4723NDUFV1Uncertain significancers1387676031RCV001108143|RCV001108142; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737431767374317GT11:g.67374317G>T-
NM_007103.3(NDUFV1):c.-111T>C4723NDUFV1Uncertain significancers563140258RCV000270772|RCV000363161; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737436567374365TCNC_000011.9:g.67374365T>CClinGen:CA10631380C0023264 256000 Leigh syndrome;
NC_000011.10:g.67606931T>C4723NDUFV1Conflicting interpretations of pathogenicityrs373383800RCV001102922|RCV001102923|RCV001568735; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737440267374402TC11:g.67374402T>C-
NM_007103.4(NDUFV1):c.-66G>A4723NDUFV1Benignrs73490568RCV000332823|RCV000389913|RCV001612968; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737441067374410GANC_000011.9:g.67374410G>AClinGen:CA10639223C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.-61A>G4723NDUFV1Uncertain significancers947406124RCV001102924|RCV001102925; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737441567374415AG11:g.67374415A>G-
NM_007103.4(NDUFV1):c.-45T>G4723NDUFV1Conflicting interpretations of pathogenicityrs373940385RCV000196176|RCV000331800|RCV000274501; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737443167374431TG11:g.67374431T>GClinGen:CA320601C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.-34T>A4723NDUFV1Uncertain significancers886048586RCV000281628|RCV000374785; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737444267374442TANC_000011.9:g.67374442T>AClinGen:CA10635497C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.72+15G>T4723NDUFV1Conflicting interpretations of pathogenicityrs187400726RCV000127169|RCV000315626|RCV000372683|RCV002055710; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116737456267374562GTNC_000011.9:g.67374562G>TClinGen:CA292522C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu)4723NDUFV1Uncertain significancers201727252RCV001104844|RCV001104845; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737589567375895CT11:g.67375895C>T-
NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln)4723NDUFV1Uncertain significancers141502688RCV000624727|RCV001333607|RCV001860446; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737591367375913GANC_000011.9:g.67375913G>AClinGen:CA6143081C0950123 Inborn genetic diseases;
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)4723NDUFV1Conflicting interpretations of pathogenicityrs11540012RCV000199787|RCV000285221|RCV000342561|RCV000676963; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737594467375944CT11:g.67375944C>TClinGen:CA324342C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.155+12C>T4723NDUFV1Conflicting interpretations of pathogenicityrs199963966RCV000444487|RCV001105992|RCV001105991|RCV002062380; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116737596167375961CT11:g.67375961C>TClinGen:CA6143092CN169374 not specified;
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)4723NDUFV1Conflicting interpretations of pathogenicityrs201727685RCV000413903|RCV000853290|RCV001331690; NMedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737603367376033TC11:g.67376033T>CClinGen:CA6143106CN517202 not provided;
NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr)4723NDUFV1Uncertain significancers201727685RCV001331689; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737603367376033TA67376033-
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)4723NDUFV1Conflicting interpretations of pathogenicityrs199543483RCV000284822|RCV000393780|RCV000424374|RCV000939143; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN517202116737607267376072CTNC_000011.9:g.67376072C>TClinGen:CA6143111C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu)4723NDUFV1Uncertain significancers886048587RCV000346779|RCV000393779; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737608567376085CTNC_000011.9:g.67376085C>TClinGen:CA10631381C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.326+12G>A4723NDUFV1Conflicting interpretations of pathogenicityrs184136353RCV000307097|RCV000363981|RCV002056232; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116737620567376205GANC_000011.9:g.67376205G>AClinGen:CA6143135C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn)4723NDUFV1Uncertain significancers886048588RCV000315055|RCV000390796; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737692967376929GTNC_000011.9:g.67376929G>TClinGen:CA10639908C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.343G>A (p.Val115Met)4723NDUFV1Uncertain significancers751551838RCV001333611|RCV001859314; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737693967376939GA67376939-
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)4723NDUFV1Conflicting interpretations of pathogenicityrs140445386RCV000275192|RCV000367341|RCV000444047|RCV000880288; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN517202116737696267376962GANC_000011.9:g.67376962G>AClinGen:CA6143155C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.380A>G (p.Asp127Gly)4723NDUFV1Likely pathogenic-1RCV001806398; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737697667376976AG67376976-
NM_007103.4(NDUFV1):c.432G>T (p.Val144=)4723NDUFV1Conflicting interpretations of pathogenicityrs144087607RCV000925053|RCV001108218|RCV001108219; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737702867377028GT11:g.67377028G>T-
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr)4723NDUFV1Uncertain significancers143216424RCV001108220|RCV001108221; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737704267377042TC11:g.67377042T>C-
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys)4723NDUFV1Uncertain significancers151144350RCV000518994|RCV000765007; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737705067377050CT11:g.67377050C>TClinGen:CA6143178CN169374 not specified;
NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala)4723NDUFV1Uncertain significancers773368756RCV001333612; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737709567377095TG67377095-
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys)4723NDUFV1Uncertain significancers551603121RCV000260749|RCV000322932; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737787167377871AGNC_000011.9:g.67377871A>GClinGen:CA6143207C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=)4723NDUFV1Benignrs10896187RCV000127166|RCV000283254|RCV000379810|RCV000676965; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116737789067377890CGNC_000011.9:g.67377890C>GClinGen:CA292517C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)4723NDUFV1Uncertain significancers142982022RCV000321979|RCV000383441|RCV000523777; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116737790467377904GANC_000011.9:g.67377904G>AClinGen:CA6143212C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=)4723NDUFV1Conflicting interpretations of pathogenicityrs151104852RCV000898339|RCV001103034|RCV001103033; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737793867377938CT11:g.67377938C>T-
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=)4723NDUFV1Uncertain significancers886048589RCV000291492|RCV000343621; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737794767377947GANC_000011.9:g.67377947G>AClinGen:CA10631385C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.700+12C>T4723NDUFV1Conflicting interpretations of pathogenicityrs200417926RCV000196215|RCV001104931|RCV001104932; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737805367378053CT11:g.67378053C>TClinGen:CA320641CN169374 not specified;
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)4723NDUFV1Conflicting interpretations of pathogenicityrs755312472RCV000988584|RCV001104933|RCV001869354; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737853167378531CT11:g.67378531C>T-
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys)4723NDUFV1Uncertain significancers141400889RCV000195680|RCV000294572|RCV000390228|RCV001762416; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225116737856567378565GA11:g.67378565G>AClinGen:CA320044C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=)4723NDUFV1Conflicting interpretations of pathogenicityrs150859374RCV000351838|RCV000392952|RCV000885478; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116737858467378584CTNC_000011.9:g.67378584C>TClinGen:CA6143291C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=)4723NDUFV1Conflicting interpretations of pathogenicityrs139299777RCV000917470|RCV001106100|RCV001106099; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737859667378596CT11:g.67378596C>TClinGen:CA6143295CN169374 not specified;
NM_007103.4(NDUFV1):c.843T>C (p.His281=)4723NDUFV1Conflicting interpretations of pathogenicityrs766555879RCV000312468|RCV000355545|RCV000907358; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737860867378608TCNC_000011.9:g.67378608T>CClinGen:CA6143296C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys)4723NDUFV1Uncertain significancers1017020344RCV001333613; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737863667378636GA67378636-
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu)4723NDUFV1Uncertain significancers573896386RCV000297655|RCV000392931; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737866967378669AG11:g.67378669A>GClinGen:CA6143303C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val)4723NDUFV1Uncertain significancers1432435322RCV001108322|RCV001108321; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737888967378889GT11:g.67378889G>T-
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=)4723NDUFV1Uncertain significancers371426372RCV000267146|RCV000354895; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737897767378977CT11:g.67378977C>TClinGen:CA6143362C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=)4723NDUFV1Benignrs11227859RCV000127167|RCV000305888|RCV000358134|RCV000676966; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737901667379016TC11:g.67379016T>CClinGen:CA292519C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)4723NDUFV1Conflicting interpretations of pathogenicityrs142499054RCV000265767|RCV000327949|RCV000761787; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737903567379035CT11:g.67379035C>TClinGen:CA6143373C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu)4723NDUFV1Uncertain significancers372208500RCV000269669|RCV000384838|RCV001815309; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116737903967379039CT11:g.67379039C>TClinGen:CA6143375C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr)4723NDUFV1Uncertain significancers376958800RCV000195640|RCV000327027|RCV000388550; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737938967379389GA11:g.67379389G>AClinGen:CA320007C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)4723NDUFV1Pathogenic/Likely pathogenicrs150966634RCV000482108|RCV001004858|RCV001662464; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225116737944367379443CT11:g.67379443C>TClinGen:CA6143413CN517202 not provided;
NM_007103.4(NDUFV1):c.1162+4A>C4723NDUFV1Pathogenic/Likely pathogenicrs199683937RCV000015104|RCV000414504|RCV000763270|RCV001778956; NMONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737945367379453AC11:g.67379453A>CClinGen:CA6143415,OMIM:161015.0005CN517202 not provided;
NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met)4723NDUFV1Uncertain significancers774750411RCV001337051; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737962667379626GA67379626-
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)4723NDUFV1Uncertain significancers145602077RCV001291734|RCV001333608|RCV001587322; NMONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737964167379641CT67379641-
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu)4723NDUFV1Uncertain significancers753686111RCV001103126|RCV001103127; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737964567379645CT11:g.67379645C>T-
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)4723NDUFV1Uncertain significancers1854932368RCV001103129|RCV001103128; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737966167379661CT11:g.67379661C>T-
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)4723NDUFV1Pathogenic/Likely pathogenicrs121913659RCV000015100|RCV000200093|RCV000735412|RCV000763271; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737969667379696CT11:g.67379696C>TClinGen:CA123735,UniProtKB:P49821#VAR_008847,OMIM:161015.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)4723NDUFV1Conflicting interpretations of pathogenicityrs147719815RCV000426011|RCV001105039|RCV001105040; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737969767379697GA11:g.67379697G>AClinGen:CA6143466CN169374 not specified;
NM_007103.4(NDUFV1):c.1308+7A>T4723NDUFV1Uncertain significancers767679135RCV001105041|RCV001105042; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737974367379743AT11:g.67379743A>T-
NM_007103.4(NDUFV1):c.1309-9C>T4723NDUFV1Conflicting interpretations of pathogenicityrs374581520RCV000281538|RCV000387593|RCV000930807; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202116737983467379834CT11:g.67379834C>TClinGen:CA6143498C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp)4723NDUFV1Uncertain significancers778206888RCV001333609|RCV001865787; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737986167379861CT67379861-
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His)4723NDUFV1Uncertain significancers768582587RCV000338882|RCV000391889; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737988767379887GT11:g.67379887G>TClinGen:CA6143512C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln)4723NDUFV1Uncertain significancers368184231RCV001106192|RCV001106191; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737988967379889GA11:g.67379889G>A-
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)4723NDUFV1Uncertain significancers372047256RCV000303945|RCV000342474|RCV001196497|RCV001333610|RCV001859819; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737991267379912CT11:g.67379912C>TClinGen:CA6143522C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.*14C>T4723NDUFV1Uncertain significancers886048590RCV000304897|RCV000391895; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737994367379943CT11:g.67379943C>TClinGen:CA10635501C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.*79C>T4723NDUFV1Benign/Likely benignrs76839099RCV000269563|RCV000364194; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116738000867380008CT11:g.67380008C>TClinGen:CA10635505C0023264 256000 Leigh syndrome;
NM_021074.5(NDUFV2):c.-39G>T4729NDUFV2Uncertain significancers748188888RCV000306336; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891027039102703GTNC_000018.9:g.9102703G>TClinGen:CA10652161C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.-30G>T4729NDUFV2Conflicting interpretations of pathogenicityrs139650842RCV000370310|RCV001672548; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021891027129102712GTNC_000018.9:g.9102712G>TClinGen:CA8887006C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.-13A>G4729NDUFV2Conflicting interpretations of pathogenicityrs369562850RCV001123060|RCV001720062; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021891027299102729AG18:g.9102729A>GClinGen:CA8887009CN169374 not specified;
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=)4729NDUFV2Conflicting interpretations of pathogenicityrs547252886RCV001123061|RCV002070012; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021891027479102747CT18:g.9102747C>T-
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly)4729NDUFV2Conflicting interpretations of pathogenicityrs559485096RCV000401738|RCV001329208|RCV001545608; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229|MedGen:CN5172021891027589102758CGNC_000018.9:g.9102758C>GClinGen:CA8887025C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu)4729NDUFV2Uncertain significancers1035730836RCV001329833; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891027709102770GT9102770-
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)4729NDUFV2Benignrs906807RCV000009621|RCV000117718|RCV000312272|RCV000676827|RCV001000212; NMONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:6182291891178679117867TC18:g.9117867T>CClinGen:CA254625,UniProtKB:P19404#VAR_016167,OMIM:600532.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.120+1G>C4729NDUFV2Uncertain significancers749991624RCV000779248; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891179029117902GCNC_000018.9:g.9117902G>C-
NM_021074.5(NDUFV2):c.201A>T (p.Val67=)4729NDUFV2Benignrs41274300RCV000117717|RCV000366995|RCV000676828|RCV000999964; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:6182291891194899119489AT18:g.9119489A>TClinGen:CA153877C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.301-10A>G4729NDUFV2Uncertain significancers756241126RCV000262462; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891225019122501AGNC_000018.9:g.9122501A>GClinGen:CA8887183C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr)4729NDUFV2Uncertain significancers886054124RCV000319919; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891226259122625CANC_000018.9:g.9122625C>AClinGen:CA10648120C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter)4729NDUFV2Uncertain significancers771236417RCV000779249; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891226449122645CCTNC_000018.9:g.9122645dup-
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu)4729NDUFV2Uncertain significancers2077948602RCV001124129; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891226529122652AC18:g.9122652A>C-
NM_021074.5(NDUFV2):c.469+12A>G4729NDUFV2Uncertain significancers538112556RCV001124130; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891226919122691AG18:g.9122691A>G-
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=)4729NDUFV2Conflicting interpretations of pathogenicityrs201074358RCV000353703|RCV000614024|RCV000903810; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN5172021891249129124912TCNC_000018.9:g.9124912T>CClinGen:CA8887240C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=)4729NDUFV2Conflicting interpretations of pathogenicityrs143576401RCV000261114|RCV000911516; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021891249489124948CTNC_000018.9:g.9124948C>TClinGen:CA8887245C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.580-12T>A4729NDUFV2Benign/Likely benignrs114558512RCV000127173|RCV000323330|RCV001516535; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021891268179126817TANC_000018.9:g.9126817T>AClinGen:CA292526C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=)4729NDUFV2Uncertain significancers1372175274RCV001126798; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891342059134205GA18:g.9134205G>A-
NM_021074.5(NDUFV2):c.*51A>C4729NDUFV2Uncertain significancers1188007874RCV001126799; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891343289134328AC18:g.9134328A>C-
NM_021074.5(NDUFV2):c.*57C>T4729NDUFV2Uncertain significancers977177603RCV001126800; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891343349134334CT18:g.9134334C>T-
NM_025152.3(NUBPL):c.-25A>G80224NUBPLUncertain significancers749942385RCV000342502; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203062132030621AGNC_000014.8:g.32030621A>GClinGen:CA7147676C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.-13A>G80224NUBPLConflicting interpretations of pathogenicityrs754769393RCV000378355|RCV001705469; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143203063332030633AGNC_000014.8:g.32030633A>GClinGen:CA7147680C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.-7C>T80224NUBPLConflicting interpretations of pathogenicityrs201073307RCV000279303|RCV000444428; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374143203063932030639CTNC_000014.8:g.32030639C>TClinGen:CA7147683C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.-1C>T80224NUBPLConflicting interpretations of pathogenicityrs45468395RCV000127267|RCV000335330|RCV000676600; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143203064532030645CT14:g.32030645C>TClinGen:CA292627C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg)80224NUBPLUncertain significancers765747555RCV001110083; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203064932030649GC14:g.32030649G>C-
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe)80224NUBPLUncertain significancers751219189RCV001110084; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203067032030670CT14:g.32030670C>T-
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp)80224NUBPLUncertain significancers886050447RCV000395507; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203069132030691CTNC_000014.8:g.32030691C>TClinGen:CA10644080C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu)80224NUBPLUncertain significancers556060060RCV001110085|RCV001823182; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143203071632030716CT14:g.32030716C>T-
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val)80224NUBPLConflicting interpretations of pathogenicityrs77539990RCV000300305|RCV000375839|RCV000676601; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN517202143203072232030722GT14:g.32030722G>TClinGen:CA7147707C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.90G>A (p.Ala30=)80224NUBPLUncertain significancers773747183RCV001110846; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203073532030735GA14:g.32030735G>A-
NM_025152.3(NUBPL):c.109-11A>T80224NUBPLUncertain significancers886050448RCV000350566; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203126332031263ATNC_000014.8:g.32031263A>TClinGen:CA10640076C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.162C>T (p.Ser54=)80224NUBPLConflicting interpretations of pathogenicityrs34570972RCV000197028|RCV000395434|RCV000893957; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143203132732031327CTNC_000014.8:g.32031327C>TClinGen:CA321462C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu)80224NUBPLUncertain significancers771326763RCV000315529; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203136432031364AGNC_000014.8:g.32031364A>GClinGen:CA7147743C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.256+14T>C80224NUBPLConflicting interpretations of pathogenicityrs377077969RCV000200815|RCV001110847|RCV002054335; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143203143532031435TCNC_000014.8:g.32031435T>CClinGen:CA325398CN169374 not specified;
NM_025152.3(NUBPL):c.285C>T (p.Asn95=)80224NUBPLConflicting interpretations of pathogenicityrs373232503RCV000370184|RCV000910512; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143203424832034248CTNC_000014.8:g.32034248C>TClinGen:CA7147771C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn)80224NUBPLUncertain significancers886050449RCV000270914; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203424932034249GANC_000014.8:g.32034249G>AClinGen:CA10640079C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val)80224NUBPLUncertain significancers2033400591RCV001110848; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203425032034250AT14:g.32034250A>T-
NM_025152.3(NUBPL):c.369G>A (p.Pro123=)80224NUBPLUncertain significancers755482148RCV000306925; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143206857232068572GANC_000014.8:g.32068572G>AClinGen:CA7147817C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn)80224NUBPLUncertain significancers143612760RCV000366282|RCV001850654; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143214256132142561GANC_000014.8:g.32142561G>AClinGen:CA7147853C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.384C>T (p.Ser128=)80224NUBPLUncertain significancers886050450RCV000271714; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143214256232142562CTNC_000014.8:g.32142562C>TClinGen:CA10644086C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp)80224NUBPLUncertain significancers201412882RCV001112837|RCV001853185; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143214259132142591GA14:g.32142591G>A-
NM_025152.3(NUBPL):c.422+8T>C80224NUBPLConflicting interpretations of pathogenicityrs868061310RCV000422901|RCV001112838|RCV001428445; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143214260832142608TC14:g.32142608T>CClinGen:CA16606986CN169374 not specified;
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu)80224NUBPLUncertain significancers781341998RCV000322099|RCV001853186; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143214275532142755CTNC_000014.8:g.32142755C>TClinGen:CA319756C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)80224NUBPLConflicting interpretations of pathogenicityrs61752327RCV000358282|RCV000432198|RCV001094169; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143225701732257017TC14:g.32257017T>CClinGen:CA321423C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.573G>A (p.Val191=)80224NUBPLUncertain significancers886050451RCV000268262; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143225704532257045GANC_000014.8:g.32257045G>AClinGen:CA10644088C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr)80224NUBPLConflicting interpretations of pathogenicityrs11558436RCV000423853|RCV000662087|RCV001114184|RCV001267134; NMedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123143225706532257065ACNC_000014.8:g.32257065A>CClinGen:CA323390,UniProtKB:Q8TB37#VAR_027895C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.603A>C (p.Ile201=)80224NUBPLUncertain significancers543089711RCV000323385; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143225707532257075ACNC_000014.8:g.32257075A>CClinGen:CA7147907C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.639C>T (p.Ile213=)80224NUBPLConflicting interpretations of pathogenicityrs35330765RCV000373408|RCV000908212; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143229586632295866CTNC_000014.8:g.32295866C>TClinGen:CA7147936C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.677G>A (p.Arg226His)80224NUBPLUncertain significancers79498789RCV000281828; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143229590432295904GANC_000014.8:g.32295904G>AClinGen:CA7147944C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr)80224NUBPLConflicting interpretations of pathogenicityrs35867418RCV000318148|RCV000963310; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143229591232295912CT14:g.32295912C>TClinGen:CA320820C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.777A>G (p.Ala259=)80224NUBPLUncertain significancers368513010RCV001114185; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143231576032315760AG14:g.32315760A>G-
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu)80224NUBPLUncertain significancers770850110RCV000386623; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143231940432319404TANC_000014.8:g.32319404T>AClinGen:CA7148005C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*26C>G80224NUBPLLikely benignrs76130953RCV001114186|RCV001585986; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143232841232328412CG14:g.32328412C>G-
NM_025152.3(NUBPL):c.*72T>C80224NUBPLUncertain significancers975175643RCV001110155; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232845832328458TC14:g.32328458T>C-
NM_025152.3(NUBPL):c.*122G>C80224NUBPLBenignrs4981131RCV000292306|RCV001642971; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143232850832328508GC14:g.32328508G>CClinGen:CA10645192C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*135T>G80224NUBPLUncertain significancers377738028RCV000351828; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232852132328521TG14:g.32328521T>GClinGen:CA10634779C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*188T>C80224NUBPLUncertain significancers569141248RCV000403347; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232857432328574TC14:g.32328574T>CClinGen:CA10645196C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*237G>T80224NUBPLUncertain significancers1566603021RCV001110156; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232862332328623GT14:g.32328623G>T-
NM_025152.3(NUBPL):c.*273C>T80224NUBPLBenignrs76188062RCV000288716|RCV001711929; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143232865932328659CT14:g.32328659C>TClinGen:CA10645197C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*301G>T80224NUBPLUncertain significancers189475622RCV001110157; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232868732328687GT14:g.32328687G>T-
NM_025152.3(NUBPL):c.*312G>A80224NUBPLBenignrs10162516RCV000343669; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232869832328698GA14:g.32328698G>AClinGen:CA10645198C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*323G>T80224NUBPLUncertain significancers2040678852RCV001110916; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232870932328709GT14:g.32328709G>T-
NM_025152.3(NUBPL):c.*344T>C80224NUBPLUncertain significancers572496732RCV001110917; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232873032328730TC14:g.32328730T>C-
NM_025152.3(NUBPL):c.*355T>C80224NUBPLUncertain significancers886050452RCV000394819; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232874132328741TC14:g.32328741T>CClinGen:CA10644089C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*357C>G80224NUBPLUncertain significancers576520205RCV000309061; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232874332328743CG14:g.32328743C>GClinGen:CA10644096C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*444C>T80224NUBPLBenignrs10162515RCV000359195; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232883032328830CT14:g.32328830C>TClinGen:CA10640080C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*527G>A80224NUBPLUncertain significancers560274677RCV000394816; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232891332328913GA14:g.32328913G>AClinGen:CA10644097C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*561G>A80224NUBPLUncertain significancers189555353RCV000360332; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232894732328947GA14:g.32328947G>AClinGen:CA10640082C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*638C>G80224NUBPLUncertain significancers886050454RCV000260827; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232902432329024CG14:g.32329024C>GClinGen:CA10634780C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*736C>G80224NUBPLUncertain significancers111321293RCV001112909; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232912232329122CG14:g.32329122C>G-
NM_025152.3(NUBPL):c.*742C>G80224NUBPLUncertain significancers760265792RCV001112910; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232912832329128CG14:g.32329128C>G-
NM_025152.3(NUBPL):c.*806A>G80224NUBPLUncertain significancers139044047RCV001112911; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232919232329192AG14:g.32329192A>G-
NM_025152.3(NUBPL):c.*817T>A80224NUBPLUncertain significancers2040686751RCV001112912; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232920332329203TA14:g.32329203T>A-
NM_025152.3(NUBPL):c.*836C>G80224NUBPLBenignrs10147479RCV000316109; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232922232329222CG14:g.32329222C>GClinGen:CA10645203C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*850C>T80224NUBPLUncertain significancers370650416RCV001112913; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232923632329236CT14:g.32329236C>T-
NM_025152.3(NUBPL):c.*864C>T80224NUBPLUncertain significancers996734164RCV001112914; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232925032329250CT14:g.32329250C>T-
NM_025152.3(NUBPL):c.*905A>C80224NUBPLUncertain significancers750277296RCV000357065; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232929132329291AC14:g.32329291A>CClinGen:CA10640083C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*995T>C80224NUBPLBenignrs10136892RCV000262171; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232938132329381TC14:g.32329381T>CClinGen:CA10640084C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1015C>A80224NUBPLUncertain significancers551958784RCV000331454; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232940132329401CA14:g.32329401C>AClinGen:CA10645204C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1047C>T80224NUBPLUncertain significancers913575962RCV001114271; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232943332329433CT14:g.32329433C>T-
NM_025152.3(NUBPL):c.*1048G>A80224NUBPLUncertain significancers886050455RCV000385936; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232943432329434GA14:g.32329434G>AClinGen:CA10645205C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1151G>A80224NUBPLUncertain significancers550119169RCV000275426; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232953732329537GANC_000014.8:g.32329537G>AClinGen:CA10634786C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1260T>C80224NUBPLUncertain significancers551289319RCV000314112; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232964632329646TCNC_000014.8:g.32329646T>CClinGen:CA10640097C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1370C>T80224NUBPLUncertain significancers1031134034RCV001114272; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232975632329756CT14:g.32329756C>T-
NM_025152.3(NUBPL):c.*1451C>T80224NUBPLLikely benignrs28533800RCV000371407; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232983732329837CTNC_000014.8:g.32329837C>TClinGen:CA10645213C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1554A>G80224NUBPLUncertain significancers967796383RCV001110248; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232994032329940AG14:g.32329940A>G-
NM_025152.3(NUBPL):c.*1594T>G80224NUBPLUncertain significancers2040700976RCV001110249; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232998032329980TG14:g.32329980T>G-
NM_025152.3(NUBPL):c.*1609G>A80224NUBPLUncertain significancers142179743RCV000269805; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232999532329995GANC_000014.8:g.32329995G>AClinGen:CA10645224C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1619C>T80224NUBPLUncertain significancers886050468RCV000327098; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233000532330005CTNC_000014.8:g.32330005C>TClinGen:CA10640099C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1621C>T80224NUBPLUncertain significancers1315512923RCV001110250; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233000732330007CT14:g.32330007C>T-
NM_025152.3(NUBPL):c.*1655A>G80224NUBPLUncertain significancers1407466515RCV001110251; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233004132330041AG14:g.32330041A>G-
NM_025152.3(NUBPL):c.*1685A>G80224NUBPLBenignrs1129622RCV000384047; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233007132330071AGNC_000014.8:g.32330071A>GClinGen:CA10645239C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1694G>A80224NUBPLBenignrs1129623RCV000272821; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233008032330080GANC_000014.8:g.32330080G>AClinGen:CA10634788C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1768G>A80224NUBPLUncertain significancers2040704041RCV001111000; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233015432330154GA14:g.32330154G>A-
NM_025152.3(NUBPL):c.*1773A>G80224NUBPLUncertain significancers886050469RCV000320854; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233015932330159AGNC_000014.8:g.32330159A>GClinGen:CA10645243C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1776G>A80224NUBPLUncertain significancers886050470RCV000377899; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233016232330162GANC_000014.8:g.32330162G>AClinGen:CA10634790C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1840A>G80224NUBPLUncertain significancers886050471RCV000285846; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233022632330226AGNC_000014.8:g.32330226A>GClinGen:CA10640102C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1874A>G80224NUBPLBenignrs10348RCV000343121; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233026032330260AGNC_000014.8:g.32330260A>GClinGen:CA10640103C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1888G>A80224NUBPLBenignrs7148746RCV000372210; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233027432330274GANC_000014.8:g.32330274G>AClinGen:CA10640104C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1940A>C80224NUBPLUncertain significancers149945695RCV001111001; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233032632330326AC14:g.32330326A>C-
NM_025152.3(NUBPL):c.*1963C>A80224NUBPLUncertain significancers1164142579RCV001112997; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233034932330349CA14:g.32330349C>A-
NM_025152.3(NUBPL):c.*2036A>C80224NUBPLUncertain significancers886050472RCV000280137; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233042232330422ACNC_000014.8:g.32330422A>CClinGen:CA10640105C1838979 252010 Mitochondrial complex I deficiency;
NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp)51300TIMMDC1Uncertain significancers774619141RCV001336356; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520103119217755119217755CT119217755-
NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr)51300TIMMDC1Uncertain significancers368184254RCV001332147; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520103119232548119232548TC119232548-
NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln)51300TIMMDC1Uncertain significancers761981569RCV001336357; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520103119236129119236129GA119236129-
NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu)51300TIMMDC1Uncertain significancers779953541RCV001336358; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520103119242490119242490AG119242490-
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs)55863TMEM126BPathogenicrs752316853RCV001335007|RCV001780257|RCV001865819; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250|MedGen:CN517202118534524485345245CATC85345243-
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val)55863TMEM126BUncertain significancers181963507RCV001335913|RCV001729850; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202118534716985347169AG85347169-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000110074 MSeqDR Search EnsemblFOXRED11151FAD-dependent oxidoreductase domain containing 1 [Source:HGNC Symbol;Acc:26927]00011
ENSG00000198888 MSeqDR Search EnsemblMT-ND1180mitochondrially encoded NADH dehydrogenase 1 [Source:HGNC Symbol;Acc:7455]00011
ENSG00000198763 MSeqDR Search EnsemblMT-ND2120mitochondrially encoded NADH dehydrogenase 2 [Source:HGNC Symbol;Acc:7456]00011
ENSG00000198840 MSeqDR Search EnsemblMT-ND3120mitochondrially encoded NADH dehydrogenase 3 [Source:HGNC Symbol;Acc:7458]00011
ENSG00000198886 MSeqDR Search EnsemblMT-ND4120mitochondrially encoded NADH dehydrogenase 4 [Source:HGNC Symbol;Acc:7459]00011
ENSG00000210135 MSeqDR Search EnsemblMT-TN110mitochondrially encoded tRNA asparagine [Source:HGNC Symbol;Acc:7493]00011
ENSG00000125356 MSeqDR Search EnsemblNDUFA1130NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa [Source:HGNC Symbol;Acc:7683]00011
ENSG00000174886 MSeqDR Search EnsemblNDUFA111023NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa [Source:HGNC Symbol;Acc:20371]00011
ENSG00000137806 MSeqDR Search EnsemblNDUFAF11335NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 [Source:HGNC Symbol;Acc:18828]00011
ENSG00000164182 MSeqDR Search EnsemblNDUFAF21113NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]00011
ENSG00000178057 MSeqDR Search EnsemblNDUFAF31334NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 [Source:HGNC Symbol;Acc:29918]00011
ENSG00000123545 MSeqDR Search EnsemblNDUFAF41160NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 [Source:HGNC Symbol;Acc:21034]00011
ENSG00000101247 MSeqDR Search EnsemblNDUFAF5125NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 [Source:HGNC Symbol;Acc:15899]00011
ENSG00000147123 MSeqDR Search EnsemblNDUFB11100NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa [Source:HGNC Symbol;Acc:20372]00011
ENSG00000119013 MSeqDR Search EnsemblNDUFB3111NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa [Source:HGNC Symbol;Acc:7698]00011
ENSG00000147684 MSeqDR Search EnsemblNDUFB9100NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa [Source:HGNC Symbol;Acc:7704]00011
ENSG00000023228 MSeqDR Search EnsemblNDUFS11874NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7707]00011
ENSG00000158864 MSeqDR Search EnsemblNDUFS21344NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7708]00011
ENSG00000213619 MSeqDR Search EnsemblNDUFS31120NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]00011
ENSG00000164258 MSeqDR Search EnsemblNDUFS41229NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]00011
ENSG00000145494 MSeqDR Search EnsemblNDUFS61114NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7713]00011
ENSG00000110717 MSeqDR Search EnsemblNDUFS81220NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7715]00011
ENSG00000167792 MSeqDR Search EnsemblNDUFV11360NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa [Source:HGNC Symbol;Acc:7716]00011
ENSG00000178127 MSeqDR Search EnsemblNDUFV21020NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa [Source:HGNC Symbol;Acc:7717]00011
ENSG00000151413 MSeqDR Search EnsemblNUBPL1382nucleotide binding protein-like [Source:HGNC Symbol;Acc:20278]00011
ENSG00000113845 MSeqDR Search EnsemblTIMMDC1104translocase of inner mitochondrial membrane domain containing 1 [Source:HGNC Symbol;Acc:1321]00011
ENSG00000171204 MSeqDR Search EnsemblTMEM126B102transmembrane protein 126B [Source:HGNC Symbol;Acc:30883]00011

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