MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Term ID:9640
Name:mitochondrial complex I deficiency
Definition:Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
Alternative IDs:252010
ParentIDs:
TreeNumbers:
Synonyms:Complex 1 mitochondrial respiratory chain deficiency; isolated complex I deficiency; isolated mitochondrial respiratory chain complex I deficiency; isolated NADH-coenzyme Q reductase deficiency; isolated NADH-CoQ reductase deficiency; isolated NADH-ubiquinone reductase deficiency; mitochondrial Comp
Slim Mappings:
Reference: MedGen:
MeSH:
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.114C>G (p.Tyr38Ter)-1ERCC8;NDUFAF2Conflicting interpretations of pathogenicity199754807RCV000485122|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:252010560241196602411965:g.60241196C>GClinGen:CA3278074,OMIM:609653.0004C0751039 216400 Cockayne syndrome type A;
NM_017547.3(FOXRED1):c.-163G>C55572FOXRED1Conflicting interpretations of pathogenicity552937899RCV000290769|RCV001540172; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126138939126138939NC_000011.9:g.126138939G>CClinGen:CA6353868C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.3(FOXRED1):c.-151C>A55572FOXRED1Uncertain significance546439717RCV001107654; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112613895112613895111:g.126138951C>A-
NM_017547.4(FOXRED1):c.-31A>G55572FOXRED1Conflicting interpretations of pathogenicity368307265RCV000196717|RCV000327076; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126139071126139071NC_000011.9:g.126139071A>GClinGen:CA321140C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.-2T>C55572FOXRED1Benign1786702RCV000381743|RCV000676596|RCV001701845; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032624,MedGen:C4748791,OMIM:61824111126139100126139100NC_000011.9:g.126139100T>CClinGen:CA6353909C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=)55572FOXRED1Conflicting interpretations of pathogenicity28372779RCV000125154|RCV000286921|RCV000726563; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126139110126139110NC_000011.9:g.126139110G>AClinGen:CA290960C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly)55572FOXRED1Uncertain significance149883459RCV000341838|RCV001837745; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126139111126139111NC_000011.9:g.126139111A>GClinGen:CA323083C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro)55572FOXRED1Uncertain significance375454069RCV000391454; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126139136126139136NC_000011.9:g.126139136G>CClinGen:CA6353924C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln)55572FOXRED1Conflicting interpretations of pathogenicity148346044RCV000195295|RCV000283856|RCV000873772; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001112614137012614137011:g.126141370A>CClinGen:CA231125C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=)55572FOXRED1Conflicting interpretations of pathogenicity749675822RCV000338795|RCV001859801; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126141438126141438NC_000011.9:g.126141438G>AClinGen:CA6353999C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln)55572FOXRED1Uncertain significance768102112RCV000391412; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126141542126141542NC_000011.9:g.126141542G>AClinGen:CA6354024C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met)55572FOXRED1Conflicting interpretations of pathogenicity77785510RCV000298953|RCV000875510; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126141551126141551NC_000011.9:g.126141551C>TClinGen:CA321386C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.307-14T>C55572FOXRED1Conflicting interpretations of pathogenicity541684918RCV000602580|RCV001104334|RCV003117416; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001112614285012614285011:g.126142850T>CClinGen:CA6354042CN169374 not specified;
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=)55572FOXRED1Uncertain significance1951030849RCV001104335; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614287512614287511:g.126142875C>T-
NM_017547.4(FOXRED1):c.417+6T>C55572FOXRED1Uncertain significance1951035111RCV001104336; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614298012614298011:g.126142980T>C-
NM_017547.4(FOXRED1):c.417+10A>G55572FOXRED1Conflicting interpretations of pathogenicity180800246RCV000873631|RCV001104337; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614298412614298411:g.126142984A>G-
NM_017547.4(FOXRED1):c.418-1G>T55572FOXRED1Uncertain significance771941278RCV000779052; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126143230126143230NC_000011.9:g.126143230G>T-
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile)55572FOXRED1Conflicting interpretations of pathogenicity34542988RCV000125153|RCV000353768|RCV000676597; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126143246126143246NC_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 pathogenicity147235743RCV000200296|RCV000405671|RCV000873859; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126143248126143248NC_000011.9:g.126143248C>TClinGen:CA324846C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp)55572FOXRED1Uncertain significance140745629RCV001104338; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614327012614327011:g.126143270C>T-
NM_017547.4(FOXRED1):c.537-11G>A55572FOXRED1Conflicting interpretations of pathogenicity199599636RCV000614185|RCV001107092|RCV002063291; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001112614481112614481111:g.126144811G>AClinGen:CA6354126CN169374 not specified;
NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg)55572FOXRED1Uncertain significance368843227RCV001107093|RCV001856435|RCV002555047; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C09501231112614483612614483611:g.126144836A>G-
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp)55572FOXRED1Uncertain significance191604046RCV000314230; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126144865126144865NC_000011.9:g.126144865C>TClinGen:CA6354135C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)55572FOXRED1Conflicting interpretations of pathogenicity398124308RCV000081797|RCV000190588|RCV000586362|RCV000778312|RCV001197098|RCV002513837; NMedGen:C3661900|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:618241|MeSH:D030342,MedGen:C09501231112614489512614489611:g.126144895_126144896insGAGTClinGen:CA204560C0023264 256000 Leigh syndrome;
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser)55572FOXRED1Uncertain significance753106152RCV000366903|RCV002522187; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126145248126145248NC_000011.9:g.126145248C>TClinGen:CA6354170C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu)55572FOXRED1Uncertain significance755831680RCV000272284; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126145252126145252NC_000011.9:g.126145252G>TClinGen:CA10634102C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)55572FOXRED1Conflicting interpretations of pathogenicity146661281RCV000514034|RCV000763713; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614570912614570911:g.126145709C>TClinGen:CA6354204CN517202 not provided;
NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly)55572FOXRED1Uncertain significance886047981RCV000308619; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614597612614597611:g.126145976A>GClinGen:CA10638427C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr)55572FOXRED1Uncertain significance148955548RCV000363274; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614600012614600011:g.126146000T>CClinGen:CA10630351C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val)55572FOXRED1Uncertain significance886047982RCV000268896; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614603012614603011:g.126146030C>TClinGen:CA10630352C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=)55572FOXRED1Conflicting interpretations of pathogenicity777315728RCV000324058|RCV002520696; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211126146064126146064NC_000011.9:g.126146064G>AClinGen:CA6354266C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser)55572FOXRED1Uncertain significance748195712RCV000378520; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614609512614609511:g.126146095C>TClinGen:CA6354273C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=)55572FOXRED1Conflicting interpretations of pathogenicity143739550RCV000125155|RCV000265385|RCV000874958; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126146337126146337NC_000011.9:g.126146337G>CClinGen:CA290962C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val)55572FOXRED1Uncertain significance139029287RCV001107763|RCV002558079; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C09501231112614698512614698511:g.126146985C>T-
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp)55572FOXRED1Uncertain significance751634994RCV000320572; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614700212614700211:g.126147002C>GClinGen:CA6354381C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg)55572FOXRED1Conflicting interpretations of pathogenicity7116126RCV000125156|RCV000375172|RCV000676598; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126147003126147003NC_000011.9:g.126147003A>GUniProtKB:Q96CU9#VAR_051003,ClinGen:CA290964C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=)55572FOXRED1Uncertain significance560953332RCV001107764; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614703112614703111:g.126147031C>T-
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)55572FOXRED1Conflicting interpretations of pathogenicity138061928RCV000199891|RCV000763714|RCV001107765; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147035126147035NC_000011.9:g.126147035T>GClinGen:CA324443CN169374 not specified;
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe)55572FOXRED1Uncertain significance767749700RCV000280779|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:1112614704712614704711:g.126147047G>TClinGen:CA6354390C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser)55572FOXRED1Uncertain significance1036245067RCV001104117; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614734812614734811:g.126147348G>A-
NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly)55572FOXRED1Uncertain significance139086727RCV000591557|RCV001104118; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614750112614750111:g.126147501A>GClinGen:CA6354452CN169374 not specified;
NM_017547.4(FOXRED1):c.*71A>G55572FOXRED1Uncertain significance763886127RCV001104119; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614765512614765511:g.126147655A>G-
NM_017547.4(FOXRED1):c.*85T>C55572FOXRED1Conflicting interpretations of pathogenicity372575072RCV000335841|RCV001566519; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001112614766912614766911:g.126147669T>CClinGen:CA6354487C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*93G>A55572FOXRED1Likely benign114082966RCV001104120|RCV001585981; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001112614767712614767711:g.126147677G>A-
NM_017547.4(FOXRED1):c.*113G>A55572FOXRED1Benign667627RCV000371864|RCV001612955; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001112614769712614769711:g.126147697G>AClinGen:CA6354498C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*129C>G55572FOXRED1Benign594318RCV000295162|RCV001711903; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001112614771312614771311:g.126147713C>GClinGen:CA6354500C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*159C>T55572FOXRED1Uncertain significance570233921RCV000352350; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614774312614774311:g.126147743C>TClinGen:CA6354504C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*190T>C55572FOXRED1Benign/Likely benign77902129RCV000392587|RCV001725159; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011126147774126147774NC_000011.9:g.126147774T>CClinGen:CA6354512C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*211T>C55572FOXRED1Uncertain significance1245337651RCV001104427; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614779512614779511:g.126147795T>C-
NM_017547.4(FOXRED1):c.*374T>G55572FOXRED1Uncertain significance576196293RCV001104428; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614795812614795811:g.126147958T>G-
NM_017547.4(FOXRED1):c.*392G>A55572FOXRED1Uncertain significance886047983RCV000312592; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147976126147976NC_000011.9:g.126147976G>AClinGen:CA10634103C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.*432T>G55572FOXRED1Uncertain significance185024577RCV000346441; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126148016126148016NC_000011.9:g.126148016T>GClinGen:CA6354523C1838979 252010 Mitochondrial complex I deficiency;
NM_004544.4(NDUFA10):c.*3724G>A4705NDUFA10Uncertain significance1694684016RCV001139463|RCV001139464; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408968112408968112:g.240896811C>T-
NM_004544.4(NDUFA10):c.*3711A>G4705NDUFA10Uncertain significance1466622883RCV001139466|RCV001139465; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408968242408968242:g.240896824T>C-
NM_004544.4(NDUFA10):c.*3557G>A4705NDUFA10Uncertain significance149933652RCV000282070|RCV000334827; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240896978240896978NC_000002.11:g.240896978C>TClinGen:CA10613222C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3544C>T4705NDUFA10Benign/Likely benign114944621RCV001140238|RCV001140237; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408969912408969912:g.240896991G>A-
NM_004544.4(NDUFA10):c.*3490G>C4705NDUFA10Uncertain significance1694693520RCV001140239|RCV001140240; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408970452408970452:g.240897045C>G-
NM_004544.4(NDUFA10):c.*3456T>G4705NDUFA10Uncertain significance1694694826RCV001140241|RCV001140242; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408970792408970792:g.240897079A>C-
NM_004544.4(NDUFA10):c.*3450G>A4705NDUFA10Benign7573892RCV000313749|RCV000407125; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897085240897085NC_000002.11:g.240897085C>TClinGen:CA10612853C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3409G>A4705NDUFA10Uncertain significance146483651RCV001142083|RCV001142082; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408971262408971262:g.240897126C>T-
NM_004544.4(NDUFA10):c.*3408T>C4705NDUFA10Uncertain significance886055810RCV000370283|RCV000405985; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897127240897127NC_000002.11:g.240897127A>GClinGen:CA10614904C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3403A>G4705NDUFA10Uncertain significance1574807018RCV001137325|RCV001137326; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408971322408971322:g.240897132T>C-
NM_004544.4(NDUFA10):c.*3349G>A4705NDUFA10Benign/Likely benign77216981RCV000312144|RCV000364536; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897186240897186NC_000002.11:g.240897186C>TClinGen:CA10612854C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3347C>T4705NDUFA10Uncertain significance537694779RCV001137327|RCV001137328; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408971882408971882:g.240897188G>A-
NM_004544.4(NDUFA10):c.*3301C>T4705NDUFA10Uncertain significance1694700570RCV001137329|RCV001137330; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408972342408972342:g.240897234G>A-
NM_004544.4(NDUFA10):c.*3205G>A4705NDUFA10Uncertain significance886055811RCV000272597|RCV000325291; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897330240897330NC_000002.11:g.240897330C>TClinGen:CA10613224C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3204C>T4705NDUFA10Benign34277046RCV000266639|RCV000363605; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240897331240897331NC_000002.11:g.240897331G>AClinGen:CA10613230C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3175T>G4705NDUFA10Uncertain significance1694704488RCV001139559|RCV001139560; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408973602408973602:g.240897360A>C-
NM_004544.4(NDUFA10):c.*3143C>T4705NDUFA10Uncertain significance1357789210RCV001139561|RCV001139562; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408973922408973922:g.240897392G>A-
NM_004544.4(NDUFA10):c.*3141C>T4705NDUFA10Uncertain significance144864637RCV000321071|RCV000378087; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240897394240897394NC_000002.11:g.240897394G>AClinGen:CA10613239C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3113G>A4705NDUFA10Uncertain significance886055812RCV000281251|RCV000319847; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408974222408974222:g.240897422C>TClinGen:CA10613244C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3098A>T4705NDUFA10Uncertain significance886055813RCV000279849|RCV000372049; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408974372408974372:g.240897437T>AClinGen:CA10614704C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3095A>G4705NDUFA10Uncertain significance576198967RCV001140329|RCV001140328; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408974402408974402:g.240897440T>C-
NM_004544.4(NDUFA10):c.*3075T>G4705NDUFA10Benign/Likely benign7588974RCV000351219|RCV000408158; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408974602408974602:g.240897460A>CClinGen:CA10614905C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3067C>T4705NDUFA10Uncertain significance564992184RCV000293130|RCV000350383; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408974682408974682:g.240897468G>AClinGen:CA10612855C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*3052G>A4705NDUFA10Uncertain significance1003876097RCV001142176|RCV001142177; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408974832408974832:g.240897483C>T-
NM_004544.4(NDUFA10):c.*3009T>C4705NDUFA10Uncertain significance1694711139RCV001142178|RCV001142179; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408975262408975262:g.240897526A>G-
NM_004544.4(NDUFA10):c.*2997G>A4705NDUFA10Uncertain significance886055814RCV000310655|RCV000408151; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408975382408975382:g.240897538C>TClinGen:CA10614906C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2900G>A4705NDUFA10Uncertain significance752124492RCV001137438|RCV001137439; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408976352408976352:g.240897635C>T-
NM_004544.4(NDUFA10):c.*2838C>A4705NDUFA10Uncertain significance532456176RCV001137440|RCV001137441; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408976972408976972:g.240897697G>T-
NM_004544.4(NDUFA10):c.*2685C>A4705NDUFA10Uncertain significance114807372RCV000363196|RCV000403818; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408978502408978502:g.240897850G>TClinGen:CA10613246C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2659A>C4705NDUFA10Uncertain significance559550890RCV001139659|RCV001139658; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408978762408978762:g.240897876T>G-
NM_004544.4(NDUFA10):c.*2649G>A4705NDUFA10Uncertain significance886055815RCV000305026|RCV000362023; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408978862408978862:g.240897886C>TClinGen:CA10612857C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2648C>T4705NDUFA10Uncertain significance953906857RCV001139661|RCV001139660; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408978872408978872:g.240897887G>A-
NM_004544.4(NDUFA10):c.*2602C>T4705NDUFA10Benign58261980RCV000263944|RCV000321470; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408979332408979332:g.240897933G>AClinGen:CA10614926C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2511C>T4705NDUFA10Benign/Likely benign74540213RCV001140420|RCV001140421; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408980242408980242:g.240898024G>A-
NM_004544.4(NDUFA10):c.*2495C>T4705NDUFA10Benign/Likely benign78395168RCV000263762|RCV000355304; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408980402408980402:g.240898040G>AClinGen:CA10613250C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2455C>G4705NDUFA10Uncertain significance756778773RCV001140422|RCV001140423; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408980802408980802:g.240898080G>C-
NM_004544.4(NDUFA10):c.*2382C>A4705NDUFA10Uncertain significance1289543938RCV001140424|RCV001140425; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408981532408981532:g.240898153G>T-
NM_004544.4(NDUFA10):c.*2350G>A4705NDUFA10Uncertain significance1218747092RCV001142283|RCV001142284; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408981852408981852:g.240898185C>T-
NM_004544.4(NDUFA10):c.*2309G>A4705NDUFA10Benign1132778RCV000276578|RCV000334028|RCV001636938; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022408982262408982262:g.240898226C>TClinGen:CA10614930C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2297T>G4705NDUFA10Uncertain significance773090030RCV000294050|RCV000386093; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408982382408982382:g.240898238A>CClinGen:CA10613251C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2242T>C4705NDUFA10Uncertain significance111969519RCV001142286|RCV001142285; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408982932408982932:g.240898293A>G-
NM_004544.4(NDUFA10):c.*2202C>T4705NDUFA10Benign/Likely benign77614498RCV001137543|RCV001137544; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408983332408983332:g.240898333G>A-
NM_004544.4(NDUFA10):c.*2192T>A4705NDUFA10Uncertain significance886055817RCV000346747|RCV000384939; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408983432408983432:g.240898343A>TClinGen:CA10612858C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2149C>T4705NDUFA10Uncertain significance570872300RCV000288049|RCV000345362; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408983862408983862:g.240898386G>AClinGen:CA10614932C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2136T>C4705NDUFA10Uncertain significance943989946RCV001137545|RCV001137546; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408983992408983992:g.240898399A>G-
NM_004544.4(NDUFA10):c.*2133A>G4705NDUFA10Conflicting interpretations of pathogenicity6736791RCV001139764|RCV001139765|RCV002221610; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022408984022408984022:g.240898402T>C-
NM_004544.4(NDUFA10):c.*2111G>A4705NDUFA10Uncertain significance752139055RCV000305816|RCV000392087; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408984242408984242:g.240898424C>TClinGen:CA10612861C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2079A>G4705NDUFA10Uncertain significance1574808891RCV001139767|RCV001139766; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408984562408984562:g.240898456T>C-
NM_004544.4(NDUFA10):c.*2046T>C4705NDUFA10Uncertain significance1694740787RCV001139768|RCV001139769; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408984892408984892:g.240898489A>G-
NM_004544.4(NDUFA10):c.*2042A>C4705NDUFA10Uncertain significance886055818RCV000340471|RCV000405302; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408984932408984932:g.240898493T>GClinGen:CA10614936C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*2009G>C4705NDUFA10Uncertain significance370309206RCV001140535|RCV001140536; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408985262408985262:g.240898526C>G-
NM_004544.4(NDUFA10):c.*1992C>T4705NDUFA10Uncertain significance373034894RCV001140538|RCV001140537; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408985432408985432:g.240898543G>A-
NM_004544.4(NDUFA10):c.*1957G>A4705NDUFA10Benign4854069RCV000300653|RCV000353226|RCV001709606; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619002240898578240898578NC_000002.11:g.240898578C>TClinGen:CA10614942C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1943A>G4705NDUFA10Uncertain significance148829605RCV001142383|RCV001142382; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408985922408985922:g.240898592T>C-
NM_004544.4(NDUFA10):c.*1930C>G4705NDUFA10Conflicting interpretations of pathogenicity535714073RCV001142385|RCV001142384; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408986052408986052:g.240898605G>C-
NM_004544.4(NDUFA10):c.*1927G>C4705NDUFA10Uncertain significance1227609332RCV001142386|RCV001142387; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408986082408986082:g.240898608C>G-
NM_004544.4(NDUFA10):c.*1915G>A4705NDUFA10Uncertain significance144590599RCV000273905|RCV000370813; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240898620240898620NC_000002.11:g.240898620C>TClinGen:CA10614713C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1884G>C4705NDUFA10Uncertain significance886055820RCV000272672|RCV000325365; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240898651240898651NC_000002.11:g.240898651C>GClinGen:CA10614953C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1879G>A4705NDUFA10Uncertain significance143421241RCV001137641|RCV001137642; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408986562408986562:g.240898656C>T-
NM_004544.4(NDUFA10):c.*1878C>T4705NDUFA10Benign/Likely benign80067639RCV001137643|RCV001137644|RCV001785787; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022408986572408986572:g.240898657G>A-
NM_004544.4(NDUFA10):c.*1709T>C4705NDUFA10Uncertain significance562457080RCV001139859|RCV001139860; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408988262408988262:g.240898826A>G-
NM_004544.4(NDUFA10):c.*1702G>A4705NDUFA10Uncertain significance1694755462RCV001139861|RCV001139862; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408988332408988332:g.240898833C>T-
NM_004544.4(NDUFA10):c.*1665C>A4705NDUFA10Uncertain significance1314058965RCV001139863|RCV001139864; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408988702408988702:g.240898870G>T-
NM_004544.4(NDUFA10):c.*1594G>A4705NDUFA10Uncertain significance773071160RCV001139865|RCV001139866; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408989412408989412:g.240898941C>T-
NM_004544.4(NDUFA10):c.*1586A>G4705NDUFA10Uncertain significance1483288404RCV001140643|RCV001140644; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408989492408989492:g.240898949T>C-
NM_004544.4(NDUFA10):c.*1486C>T4705NDUFA10Uncertain significance746931112RCV001140645|RCV001140646; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408990492408990492:g.240899049G>A-
NM_004544.4(NDUFA10):c.*1482C>G4705NDUFA10Uncertain significance557576958RCV001140647|RCV001140648; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408990532408990532:g.240899053G>C-
NM_004544.4(NDUFA10):c.*1453G>A4705NDUFA10Conflicting interpretations of pathogenicity192964209RCV001140649|RCV001140650; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408990822408990822:g.240899082C>T-
NM_004544.4(NDUFA10):c.*1391C>T4705NDUFA10Uncertain significance552149779RCV001142515|RCV001142516; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408991442408991442:g.240899144G>A-
NM_004544.4(NDUFA10):c.*1382C>T4705NDUFA10Benign/Likely benign111337344RCV001142517|RCV001142518; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408991532408991532:g.240899153G>A-
NM_004544.4(NDUFA10):c.*1303C>T4705NDUFA10Uncertain significance575940810RCV001142519|RCV001142520; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408992322408992322:g.240899232G>A-
NM_004544.4(NDUFA10):c.*1262C>T4705NDUFA10Uncertain significance759194775RCV000285514|RCV000382246; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899273240899273NC_000002.11:g.240899273G>AClinGen:CA10612863C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1245G>A4705NDUFA10Uncertain significance187916829RCV001137751|RCV001137752; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408992902408992902:g.240899290C>T-
NM_004544.4(NDUFA10):c.*1229C>G4705NDUFA10Benign55998047RCV000342719|RCV000376401; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899306240899306NC_000002.11:g.240899306G>CClinGen:CA10613252C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1217A>G4705NDUFA10Benign/Likely benign116403651RCV001137754|RCV001137753; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408993182408993182:g.240899318T>C-
NM_004544.4(NDUFA10):c.*1214C>T4705NDUFA10Uncertain significance546735567RCV000284687|RCV000337345; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899321240899321NC_000002.11:g.240899321G>AClinGen:CA10613256C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1212T>C4705NDUFA10Uncertain significance886055821RCV000297697|RCV000407435; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899323240899323NC_000002.11:g.240899323A>GClinGen:CA10613258C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1206G>A4705NDUFA10Uncertain significance192203978RCV001139992|RCV001139991; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408993292408993292:g.240899329C>T-
NM_004544.4(NDUFA10):c.*1198G>A4705NDUFA10Uncertain significance143353868RCV001139993|RCV001139994; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408993372408993372:g.240899337C>T-
NM_004544.4(NDUFA10):c.*1189C>T4705NDUFA10Benign66534347RCV000336034|RCV000407422; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899346240899346NC_000002.11:g.240899346G>AClinGen:CA10613259C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1161C>T4705NDUFA10Uncertain significance184925264RCV001140749|RCV001140748; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408993742408993742:g.240899374G>A-
NM_004544.4(NDUFA10):c.*1129G>A4705NDUFA10Uncertain significance886055822RCV000315183|RCV000367481; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899406240899406NC_000002.11:g.240899406C>TClinGen:CA10613260C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*1124C>T4705NDUFA10Uncertain significance754187471RCV001140750|RCV001140751; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408994112408994112:g.240899411G>A-
NM_004544.4(NDUFA10):c.*1057T>G4705NDUFA10Uncertain significance541016943RCV001140753|RCV001140752; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408994782408994782:g.240899478A>C-
NM_004544.4(NDUFA10):c.*1047T>C4705NDUFA10Uncertain significance1694787943RCV001142614|RCV001142615; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408994882408994882:g.240899488A>G-
NM_004544.4(NDUFA10):c.*1011A>G4705NDUFA10Uncertain significance575477219RCV000275465|RCV000309561; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899524240899524NC_000002.11:g.240899524T>CClinGen:CA10613265C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*925C>G4705NDUFA10Uncertain significance149563558RCV000269623|RCV000366444; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240899610240899610NC_000002.11:g.240899610G>CClinGen:CA10613267C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*861C>G4705NDUFA10Uncertain significance551167199RCV001142617|RCV001142616; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408996742408996742:g.240899674G>C-
NM_004544.4(NDUFA10):c.*857G>C4705NDUFA10Uncertain significance1303822860RCV001137858|RCV001137859; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408996782408996782:g.240899678C>G-
NM_004544.4(NDUFA10):c.*804T>C4705NDUFA10Uncertain significance1422021026RCV001137860|RCV001137861; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408997312408997312:g.240899731A>G-
NM_004544.4(NDUFA10):c.*765C>T4705NDUFA10Uncertain significance144208727RCV001137863|RCV001137862; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408997702408997702:g.240899770G>A-
NM_004544.4(NDUFA10):c.*740C>T4705NDUFA10Uncertain significance886055823RCV000327138|RCV000360871; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899795240899795NC_000002.11:g.240899795G>AClinGen:CA10613269C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*732T>G4705NDUFA10Uncertain significance1349086163RCV001140107|RCV001140108; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408998032408998032:g.240899803A>C-
NM_004544.4(NDUFA10):c.*679A>G4705NDUFA10Conflicting interpretations of pathogenicity374065697RCV001140109|RCV001140110; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408998562408998562:g.240899856T>C-
NM_004544.4(NDUFA10):c.*647C>T4705NDUFA10Conflicting interpretations of pathogenicity116254382RCV000268599|RCV000321400|RCV001797082; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C36619002240899888240899888NC_000002.11:g.240899888G>AClinGen:CA10613273C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*632G>A4705NDUFA10Uncertain significance189306598RCV001140111|RCV001140112; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022408999032408999032:g.240899903C>T-
NM_004544.4(NDUFA10):c.*631C>T4705NDUFA10Benign10933622RCV000279152|RCV000373766|RCV001597101; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619002240899904240899904NC_000002.11:g.240899904G>AClinGen:CA10614715C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*548G>C4705NDUFA10Uncertain significance1694810369RCV001140872|RCV001140873; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622408999872408999872:g.240899987C>G-
NM_004544.4(NDUFA10):c.*546G>A4705NDUFA10Uncertain significance192485848RCV000320098|RCV000374741; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240899989240899989NC_000002.11:g.240899989C>TClinGen:CA10612864C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*489A>G4705NDUFA10Uncertain significance886055824RCV000294263|RCV000349229; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900046240900046NC_000002.11:g.240900046T>CClinGen:CA10614722C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*445C>G4705NDUFA10Uncertain significance563264912RCV001142720|RCV001142721; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409000902409000902:g.240900090G>C-
NM_004544.4(NDUFA10):c.*438C>T4705NDUFA10Benign13396556RCV000295440|RCV000408270|RCV001672575; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619002240900097240900097NC_000002.11:g.240900097G>AClinGen:CA10614954C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*435A>G4705NDUFA10Uncertain significance1054245819RCV001142722|RCV001142723; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022409001002409001002:g.240900100T>C-
NM_004544.4(NDUFA10):c.*428C>T4705NDUFA10Conflicting interpretations of pathogenicity557106858RCV001142724|RCV001142725; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022409001072409001072:g.240900107G>A-
NM_004544.4(NDUFA10):c.*414G>A4705NDUFA10Benign13424612RCV000345516|RCV000408266|RCV001672576; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619002240900121240900121NC_000002.11:g.240900121C>TClinGen:CA10614955C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*412A>G4705NDUFA10Uncertain significance546052985RCV000310551|RCV000365252; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900123240900123NC_000002.11:g.240900123T>CClinGen:CA10612865C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*407C>T4705NDUFA10Benign/Likely benign74614612RCV000302356|RCV000405266; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240900128240900128NC_000002.11:g.240900128G>AClinGen:CA10614960C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*396C>G4705NDUFA10Benign/Likely benign73103629RCV001137976|RCV001137977|RCV001786442; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022409001392409001392:g.240900139G>C-
NM_004544.4(NDUFA10):c.*372C>T4705NDUFA10Uncertain significance143693330RCV001138393|RCV001138394; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409001632409001632:g.240900163G>A-
NM_004544.4(NDUFA10):c.*361A>G4705NDUFA10Uncertain significance778261754RCV000317150|RCV000353317; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240900174240900174NC_000002.11:g.240900174T>CClinGen:CA10614724C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*308C>T4705NDUFA10Benign8369RCV000263165|RCV000318301|RCV001672577; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619002240900227240900227NC_000002.11:g.240900227G>AClinGen:CA10612868C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.*183C>T4705NDUFA10Conflicting interpretations of pathogenicity112660586RCV001138395|RCV001138396; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409003522409003522:g.240900352G>A-
NM_004544.4(NDUFA10):c.*105G>A4705NDUFA10Uncertain significance886055825RCV000292644|RCV000386938; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240900430240900430NC_000002.11:g.240900430C>TClinGen:CA10613274C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His)4705NDUFA10Uncertain significance201449418RCV001140972|RCV001140973|RCV001545378; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720222409005932409005932:g.240900593C>T-
NM_004544.4(NDUFA10):c.1000-3C>G4705NDUFA10Conflicting interpretations of pathogenicity199648872RCV000199808|RCV000333603|RCV000388170; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409006062409006062:g.240900606G>CClinGen:CA324354C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly)4705NDUFA10Uncertain significance758042753RCV001140974|RCV001140975; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022409294962409294962:g.240929496T>C-
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr)4705NDUFA10Uncertain significance1188020120RCV001142820|RCV001142821|RCV002032355; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720222409295052409295052:g.240929505G>A-
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly)4705NDUFA10Uncertain significance1222086753RCV001142822|RCV001142823; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409295652409295652:g.240929565T>C-
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys)4705NDUFA10Uncertain significance762669820RCV000290264|RCV000401972|RCV002519956; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022240944652240944652NC_000002.11:g.240944652G>AClinGen:CA2200827C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)4705NDUFA10Benign13848RCV000117700|RCV000340422|RCV000392330|RCV000676555|RCV001778731; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:61824322409467662409467662:g.240946766T>CClinGen:CA153845C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.749+5G>A4705NDUFA10Uncertain significance1697147446RCV001138075|RCV001138076; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022409510292409510292:g.240951029C>T-
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)4705NDUFA10Benign/Likely benign35462421RCV000127101|RCV000514175|RCV000987070|RCV001138077|RCV002492481; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:61824322409510712409510712:g.240951071C>TClinGen:CA292421CN517202 not provided;
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)4705NDUFA10Conflicting interpretations of pathogenicity148656779RCV001138078|RCV001138079|RCV002070620; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022409541952409541952:g.240954195G>A-
NM_004544.4(NDUFA10):c.558C>T (p.His186=)4705NDUFA10Uncertain significance1407750102RCV001138080|RCV001138081; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409542672409542672:g.240954267G>A-
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=)4705NDUFA10Conflicting interpretations of pathogenicity149783296RCV000301141|RCV000392325|RCV000613561|RCV002519957; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:C36619002240954276240954276NC_000002.11:g.240954276A>GClinGen:CA2200958C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.548-9A>G4705NDUFA10Conflicting interpretations of pathogenicity147876332RCV000127100|RCV000275112|RCV000355965|RCV000676557; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022409542862409542862:g.240954286T>CClinGen:CA292420C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg)4705NDUFA10Uncertain significance759587515RCV001138504|RCV001138505; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022409579882409579882:g.240957988C>T-
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro)4705NDUFA10Uncertain significance1559403435RCV001138507|RCV001138506; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409580332409580332:g.240958033A>G-
NM_004544.4(NDUFA10):c.460+5A>G4705NDUFA10Uncertain significance1158773739RCV001141065|RCV001141066; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022409606092409606092:g.240960609T>C-
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)4705NDUFA10Conflicting interpretations of pathogenicity140776586RCV000200645|RCV001141067|RCV001141068|RCV002470809; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:61824322409606702409606702:g.240960670A>GClinGen:CA325234CN169374 not specified;
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=)4705NDUFA10Uncertain significance749199433RCV001141070|RCV001141069; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022409607112409607112:g.240960711C>T-
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)4705NDUFA10Conflicting interpretations of pathogenicity118106981RCV001141072|RCV001141071|RCV002285448; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022409607202409607202:g.240960720G>A-
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=)4705NDUFA10Uncertain significance770747594RCV000311748|RCV000371039; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240960804240960804NC_000002.11:g.240960804C>TClinGen:CA2201102C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser)4705NDUFA10Benign/Likely benign35715497RCV000195637|RCV000892540|RCV001142921|RCV001142922; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240961639240961639NC_000002.11:g.240961639T>CClinGen:CA320001CN169374 not specified;
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu)4705NDUFA10Uncertain significance558134843RCV001142923|RCV001142924; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409617232409617232:g.240961723C>A-
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)4705NDUFA10Benign2083411RCV000117699|RCV000276426|RCV000326842|RCV000676559|RCV001778730; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:61824322409617282409617282:g.240961728T>CClinGen:CA153843C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=)4705NDUFA10Uncertain significance980893132RCV001138191|RCV001138190; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409646562409646562:g.240964656G>C-
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)4705NDUFA10Uncertain significance928084265RCV001138192|RCV001138193; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409646782409646782:g.240964678G>C-
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val)4705NDUFA10Uncertain significance1258770997RCV001138194|RCV001138195; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622409646902409646902:g.240964690G>A-
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=)4705NDUFA10Benign113012830RCV000173349|RCV000273080|RCV000381649|RCV000966149; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022409646952409646952:g.240964695C>TClinGen:CA302697C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly)4705NDUFA10Benign11541494RCV000328287|RCV000378198|RCV000383086|RCV000676560; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:C366190022409647142409647142:g.240964714G>CClinGen:CA2201190,UniProtKB:O95299#VAR_034149C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.-34C>T4705NDUFA10Uncertain significance920826583RCV001138617|RCV001138618; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022409647522409647522:g.240964752G>A-
NM_004544.4(NDUFA10):c.-36C>T4705NDUFA10Uncertain significance886055826RCV000283761|RCV000343470; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062240964754240964754NC_000002.11:g.240964754G>AClinGen:CA10614725C0023264 256000 Leigh syndrome;
NM_004544.4(NDUFA10):c.-38T>G4705NDUFA10Conflicting interpretations of pathogenicity374970309RCV000200045|RCV001141189|RCV001141188; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102240964756240964756NC_000002.11:g.240964756A>CClinGen:CA324598CN169374 not specified;
NM_175614.5(NDUFA11):c.*63G>A126328NDUFA11Uncertain significance749166288RCV001133935; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010195894690589469019:g.5894690C>T-
NM_175614.5(NDUFA11):c.*59C>G126328NDUFA11Uncertain significance191571307RCV000321494; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958946945894694NC_000019.9:g.5894694G>CClinGen:CA9118876C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.*55G>C126328NDUFA11Uncertain significance771648754RCV000378538; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958946985894698NC_000019.9:g.5894698C>GClinGen:CA10652804C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=)126328NDUFA11Conflicting interpretations of pathogenicity536499962RCV000926141|RCV001133936; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010195894834589483419:g.5894834G>A-
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)126328NDUFA11Conflicting interpretations of pathogenicity199842745RCV000197389|RCV000765475; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958964665896466NC_000019.9:g.5896466C>AClinGen:CA321842C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=)126328NDUFA11Uncertain significance941748424RCV001135432; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010195896489589648919:g.5896489G>A-
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=)126328NDUFA11Uncertain significance1345378776RCV001135433; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010195896543589654319:g.5896543G>A-
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val)126328NDUFA11Uncertain significance886054647RCV000325113; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101958965445896544NC_000019.9:g.5896544G>AClinGen:CA10652263C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.205G>A (p.Val69Met)126328NDUFA11Uncertain significance774174896RCV001330535|RCV001863224; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720219589657258965725896572-
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=)126328NDUFA11Conflicting interpretations of pathogenicity138889960RCV000382120|RCV000914175; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900195896968589696819:g.5896968C>TClinGen:CA322939C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser)126328NDUFA11Uncertain significance2057614252RCV001135434; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010195897002589700219:g.5897002G>C-
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser)126328NDUFA11Uncertain significance1192917919RCV001135435; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010195903656590365619:g.5903656C>A-
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=)126328NDUFA11Conflicting interpretations of pathogenicity146562956RCV000127107|RCV000756412|RCV001135436; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959036725903672NC_000019.9:g.5903672G>AClinGen:CA292428CN169374 not specified;
NM_175614.5(NDUFA11):c.-31G>A126328NDUFA11Uncertain significance886054648RCV000290662; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959037505903750NC_000019.9:g.5903750C>TClinGen:CA10649160C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.5(NDUFA11):c.-51T>G126328NDUFA11Uncertain significance886054649RCV000347902; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959037705903770NC_000019.9:g.5903770A>CClinGen:CA10649162C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-83G>C126328NDUFA11Uncertain significance562075121RCV000386066; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959038025903802NC_000019.9:g.5903802C>GClinGen:CA9119071C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-88C>A126328NDUFA11Benign8108064RCV000294085|RCV001613069; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001959038075903807NC_000019.9:g.5903807G>TClinGen:CA9119073C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-143C>G126328NDUFA11Uncertain significance550697802RCV000351225; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959038625903862NC_000019.9:g.5903862G>CClinGen:CA9119077C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-210T>C126328NDUFA11Uncertain significance886054650RCV000297568; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101959039295903929NC_000019.9:g.5903929A>GClinGen:CA10649164C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-217A>G126328NDUFA11Benign1056987RCV000336107|RCV001712053; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001959039365903936NC_000019.9:g.5903936T>CClinGen:CA9119086C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-234T>C126328NDUFA11Likely benign115530541RCV000408273; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010195903953590395319:g.5903953A>GClinGen:CA9119089C1838979 252010 Mitochondrial complex I deficiency;
NM_175614.4(NDUFA11):c.-282T>C126328NDUFA11Uncertain significance779432735RCV001131101; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010195904001590400119:g.5904001A>G-
NM_175614.4(NDUFA11):c.-300G>A126328NDUFA11Conflicting interpretations of pathogenicity563822139RCV000301439|RCV001770263; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900195904019590401919:g.5904019C>TClinGen:CA9119093C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg)4695NDUFA2Uncertain significance79526416RCV000360340|RCV002523509; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619005140026858140026858NC_000005.9:g.140026858T>CClinGen:CA3442497C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=)4695NDUFA2Uncertain significance200255683RCV000259757; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140026872140026872NC_000005.9:g.140026872G>AClinGen:CA3442500C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=)4695NDUFA2Uncertain significance745399748RCV000298528; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140026914140026914NC_000005.9:g.140026914C>TClinGen:CA3442509C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val)4695NDUFA2Conflicting interpretations of pathogenicity35672074RCV000127109|RCV000441489|RCV001155276; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027129140027129NC_000005.9:g.140027129G>CClinGen:CA292433CN517202 not provided;
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val)4695NDUFA2Uncertain significance1255776529RCV001155277; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201051400271431400271435:g.140027143C>A-
NM_002488.4(NDUFA2):c.-48A>G4695NDUFA2Benign778593RCV000355665|RCV001672651; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619005140027216140027216NC_000005.9:g.140027216T>CClinGen:CA3442589C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-50G>A4695NDUFA2Conflicting interpretations of pathogenicity143857164RCV000263224|RCV000612041; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN1693745140027218140027218NC_000005.9:g.140027218C>TClinGen:CA3442590C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-51C>A4695NDUFA2Uncertain significance886060016RCV000329989; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027219140027219NC_000005.9:g.140027219G>TClinGen:CA10620335C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-53A>G4695NDUFA2Uncertain significance747127939RCV000386841; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027221140027221NC_000005.9:g.140027221T>CClinGen:CA3442591C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-63G>A4695NDUFA2Uncertain significance748460855RCV000276097; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027231140027231NC_000005.9:g.140027231C>TClinGen:CA3442594C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-114T>A4695NDUFA2Uncertain significance760264090RCV001156939; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201051400272821400272825:g.140027282A>T-
NM_002488.4(NDUFA2):c.-136A>G4695NDUFA2Benign778594RCV000333463|RCV001653684; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619005140027304140027304NC_000005.9:g.140027304T>CClinGen:CA3442607C1838979 252010 Mitochondrial complex I deficiency;
NM_002488.4(NDUFA2):c.-145T>A4695NDUFA2Uncertain significance886060017RCV000380861; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105140027313140027313NC_000005.9:g.140027313A>TClinGen:CA10622992C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly)51103NDUFAF1Benign12900702RCV000117704|RCV000348185|RCV000676308; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190015416796854167968515:g.41679685G>CClinGen:CA153851,UniProtKB:Q9Y375#VAR_013562C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=)51103NDUFAF1Benign73407109RCV000402188|RCV000676309; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190015416797174167971715:g.41679717C>TClinGen:CA7491196C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=)51103NDUFAF1Conflicting interpretations of pathogenicity145122315RCV000199600|RCV000282770|RCV000896710; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202154167977141679771NC_000015.9:g.41679771G>AClinGen:CA324141C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val)51103NDUFAF1Uncertain significance769371844RCV001119016; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416870954168709515:g.41687095T>C-
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)51103NDUFAF1Conflicting interpretations of pathogenicity150539399RCV000192874|RCV000428377|RCV001120991; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416871084168710815:g.41687108C>TClinGen:CA319696CN517202 not provided;
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser)51103NDUFAF1Uncertain significance759432475RCV001120992|RCV003117767; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190015416871154168711515:g.41687115T>C-
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn)51103NDUFAF1Uncertain significance866015009RCV000342483; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416871734168717315:g.41687173C>TClinGen:CA10635972C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met)51103NDUFAF1Benign/Likely benign34979001RCV000127120|RCV000676310|RCV001120993; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168870041688700NC_000015.9:g.41688700T>CClinGen:CA292448CN517202 not provided;
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val)51103NDUFAF1Conflicting interpretations of pathogenicity372385045RCV000200385|RCV000398311; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168870541688705NC_000015.9:g.41688705T>CClinGen:CA324955C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly)51103NDUFAF1Uncertain significance886051143RCV000297831; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168872041688720NC_000015.9:g.41688720T>CClinGen:CA10645903C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln)51103NDUFAF1Conflicting interpretations of pathogenicity576430165RCV001120994|RCV002556602; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190015416887224168872215:g.41688722C>T-
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys)51103NDUFAF1Benign/Likely benign35227875RCV000127119|RCV000336396|RCV000676311|RCV000999773; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:61823415416887324168873215:g.41688732C>TClinGen:CA292446,UniProtKB:Q9Y375#VAR_013561C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=)51103NDUFAF1Uncertain significance764849578RCV001116065; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416888294168882915:g.41688829C>T-
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala)51103NDUFAF1Uncertain significance151286131RCV000408081|RCV000732392|RCV003298260; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C095012315416888904168889015:g.41688890A>GClinGen:CA323476C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys)51103NDUFAF1Uncertain significance759057658RCV001116066; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416889744168897415:g.41688974C>T-
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu)51103NDUFAF1Uncertain significance146540015RCV000198494|RCV001116067|RCV002517237; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123154168900941689009NC_000015.9:g.41689009A>TClinGen:CA323005
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu)51103NDUFAF1Uncertain significance1406147170RCV001116068; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416890204168902015:g.41689020C>G-
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser)51103NDUFAF1Conflicting interpretations of pathogenicity200472799RCV000301292|RCV000911034; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190015416890434168904315:g.41689043G>CClinGen:CA321075C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu)51103NDUFAF1Benign3204853RCV000117703|RCV000367569|RCV000676312|RCV001778733; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:61823415416891664168916615:g.41689166C>AClinGen:CA153849,UniProtKB:Q9Y375#VAR_013560C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser)51103NDUFAF1Uncertain significance148982578RCV000275249; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154168919741689197NC_000015.9:g.41689197T>AClinGen:CA7491404C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His)51103NDUFAF1Benign1899RCV000117702|RCV000314089|RCV000676313|RCV001778732; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:61823415416892324168923215:g.41689232C>TClinGen:CA153847,UniProtKB:Q9Y375#VAR_013559C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-6T>G51103NDUFAF1Conflicting interpretations of pathogenicity180730324RCV000127118|RCV000371026|RCV000676314; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900154168926341689263NC_000015.9:g.41689263A>CClinGen:CA292445C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-34C>G51103NDUFAF1Uncertain significance751720445RCV001117510; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416892914168929115:g.41689291G>C-
NM_016013.4(NDUFAF1):c.-137C>T51103NDUFAF1Uncertain significance369431865RCV000269256; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169439741694397NC_000015.9:g.41694397G>AClinGen:CA7491436C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-140C>T51103NDUFAF1Uncertain significance886051144RCV000326685; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169440041694400NC_000015.9:g.41694400G>AClinGen:CA10646922C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-165C>T51103NDUFAF1Uncertain significance561102841RCV001117511; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416944254169442515:g.41694425G>A-
NM_016013.4(NDUFAF1):c.-180C>T51103NDUFAF1Uncertain significance886051145RCV000383639; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169444041694440NC_000015.9:g.41694440G>AClinGen:CA10641802C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-192T>C51103NDUFAF1Uncertain significance948869374RCV001117512; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416944524169445215:g.41694452A>G-
NM_016013.4(NDUFAF1):c.-205G>C51103NDUFAF1Uncertain significance190265352RCV000272915; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169446541694465NC_000015.9:g.41694465C>GClinGen:CA10635974C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-242G>C51103NDUFAF1Uncertain significance762867624RCV001119109; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201015416945024169450215:g.41694502C>G-
NM_016013.4(NDUFAF1):c.-293C>T51103NDUFAF1Uncertain significance760649120RCV000320670; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169455341694553NC_000015.9:g.41694553G>AClinGen:CA7491446C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-312T>G51103NDUFAF1Uncertain significance886051146RCV000377592; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169457241694572NC_000015.9:g.41694572A>CClinGen:CA10641810C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-352C>T51103NDUFAF1Uncertain significance532681188RCV000285408; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010154169461241694612NC_000015.9:g.41694612G>AClinGen:CA10646925C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-379C>T51103NDUFAF1Benign/Likely benign146883891RCV000342761|RCV001712026; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900154169463941694639NC_000015.9:g.41694639G>AClinGen:CA7491450C1838979 252010 Mitochondrial complex I deficiency;
NM_016013.4(NDUFAF1):c.-386A>T51103NDUFAF1Benign/Likely benign111326645RCV000371953|RCV001613012; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900154169464641694646NC_000015.9:g.41694646T>AClinGen:CA7491452C1838979 252010 Mitochondrial complex I deficiency;
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)91942NDUFAF2Pathogenic/Likely pathogenic137852863RCV000001661|RCV000624428|RCV000679870|RCV000781647|RCV000779476|RCV001582459; NMONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202560368963603689635:g.60368963C>TClinGen:CA115096,OMIM:609653.0001C0950123 Inborn genetic diseases;
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys)91942NDUFAF2Conflicting interpretations of pathogenicity779872068RCV000294764|RCV000386723|RCV003278786; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C095012356024118060241180NC_000005.9:g.60241180A>GClinGen:CA3278067C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His)91942NDUFAF2Uncertain significance773988847RCV001156249|RCV001156250; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010560241182602411825:g.60241182T>C-
NM_174889.5(NDUFAF2):c.128-14C>G91942NDUFAF2Conflicting interpretations of pathogenicity537327206RCV000351951|RCV000399037|RCV002520379; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190056036893860368938NC_000005.9:g.60368938C>GClinGen:CA3278114C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)91942NDUFAF2Conflicting interpretations of pathogenicity775605330RCV000197862|RCV001157922|RCV001157923|RCV002515408; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123560368955603689555:g.60368955A>CClinGen:CA322323CN517202 not provided;
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)91942NDUFAF2Uncertain significance1752321893RCV001157924|RCV001157925; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010560368960603689605:g.60368960A>G-
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His)91942NDUFAF2Conflicting interpretations of pathogenicity769579395RCV000298358|RCV000336991|RCV003243110; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C095012356036902060369020NC_000005.9:g.60369020G>CClinGen:CA3278128C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=)91942NDUFAF2Benign/Likely benign191388646RCV000197895|RCV000886535|RCV001152460|RCV001157926; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50656044857260448572NC_000005.9:g.60448572A>TClinGen:CA322362CN169374 not specified;
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu)91942NDUFAF2Uncertain significance770172045RCV000302238|RCV000400065; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201056044868660448686NC_000005.9:g.60448686T>AClinGen:CA3278195C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val)91942NDUFAF2Uncertain significance749677218RCV000266885|RCV000359308|RCV001861260; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720256044869460448694NC_000005.9:g.60448694A>TClinGen:CA3278196C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)91942NDUFAF2Conflicting interpretations of pathogenicity550008432RCV001152462|RCV001152461|RCV001712860; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900560448695604486955:g.60448695A>G-
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)91942NDUFAF2Conflicting interpretations of pathogenicity9885480RCV000585479|RCV000602804|RCV001152463|RCV001153733; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506560448723604487235:g.60448723G>AClinGen:CA3278200CN517202 not provided;
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=)91942NDUFAF2Benign/Likely benign77878573RCV000127122|RCV000305680|RCV000363788|RCV000676955|RCV001001689; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233560448734604487345:g.60448734T>CClinGen:CA292451C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)-1NDUFAF2;ERCC8Benign158921RCV000117705|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:C3661900|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233560241142602411425:g.60241142G>AClinGen:CA153853C0009207 Cockayne syndrome;
NM_199069.1(NDUFAF3):c.-503G>A25915NDUFAF3Uncertain significance774579592RCV001147842; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059075490590753:g.49059075G>A-
NM_199069.1(NDUFAF3):c.-503G>C25915NDUFAF3Uncertain significance774579592RCV001147843; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059075490590753:g.49059075G>C-
NM_199069.1(NDUFAF3):c.-489T>C25915NDUFAF3Uncertain significance886058662RCV000298090; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905908949059089NC_000003.11:g.49059089T>CClinGen:CA10619029C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.1(NDUFAF3):c.-370A>G25915NDUFAF3Uncertain significance886058663RCV000355315; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905920849059208NC_000003.11:g.49059208A>GClinGen:CA10619030C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.1(NDUFAF3):c.-369C>T25915NDUFAF3Uncertain significance886058664RCV000263161; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059209490592093:g.49059209C>TClinGen:CA10619146C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.1(NDUFAF3):c.-363C>G25915NDUFAF3Conflicting interpretations of pathogenicity760652685RCV000329996|RCV001643049; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900349059215490592153:g.49059215C>GClinGen:CA10619147C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.1(NDUFAF3):c.-249C>T25915NDUFAF3Uncertain significance886058665RCV000368268; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059329490593293:g.49059329C>TClinGen:CA10616898C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.1(NDUFAF3):c.-241C>T25915NDUFAF3Uncertain significance573066357RCV000276027; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059337490593373:g.49059337C>TClinGen:CA10619032C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.1(NDUFAF3):c.-143A>T25915NDUFAF3Uncertain significance2093162490RCV001149378; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059435490594353:g.49059435A>T-
NM_199069.1(NDUFAF3):c.-127G>C25915NDUFAF3Uncertain significance74601553RCV000333640; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059451490594513:g.49059451G>CClinGen:CA10619148C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.1(NDUFAF3):c.-126G>C25915NDUFAF3Uncertain significance75749590RCV000381247; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905945249059452NC_000003.11:g.49059452G>CClinGen:CA10616899C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile)25915NDUFAF3Uncertain significance551062879RCV001149379; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059603490596033:g.49059603G>T-
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val)25915NDUFAF3Uncertain significance886058667RCV000327772; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034905961549059615NC_000003.11:g.49059615C>TClinGen:CA10616907C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.78-15C>G25915NDUFAF3Conflicting interpretations of pathogenicity587781096RCV000127123|RCV001149380|RCV002514680; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202349059764490597643:g.49059764C>GClinGen:CA292453CN169374 not specified;
NM_199069.2(NDUFAF3):c.109G>A (p.Ala37Thr)25915NDUFAF3Uncertain significance527954570RCV001336161|RCV002515410; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619003490598104905981049059810-
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)25915NDUFAF3Conflicting interpretations of pathogenicity756339822RCV000424141|RCV001336162|RCV002524733|RCV003152601; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032623,MedGen:C4748790,OMIM:618240349059888490598893:g.49059888_49059889insAClinGen:CA2390207CN517202 not provided;
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr)25915NDUFAF3Uncertain significance199504381RCV001149381|RCV002559436; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900349059892490598923:g.49059892A>C-
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys)25915NDUFAF3Uncertain significance200576852RCV000200717|RCV001145085; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059894490598943:g.49059894A>TClinGen:CA325295CN169374 not specified;
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu)25915NDUFAF3Uncertain significance2093169670RCV001145086; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059906490599063:g.49059906A>T-
NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe)25915NDUFAF3Conflicting interpretations of pathogenicity373060774RCV001145087|RCV001858951|RCV002559400; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C0950123349059927490599273:g.49059927C>T-
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=)25915NDUFAF3Uncertain significance759189660RCV001145088; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349059959490599593:g.49059959G>A-
NM_199069.2(NDUFAF3):c.271-10C>G25915NDUFAF3Conflicting interpretations of pathogenicity200789117RCV000906360|RCV001145089; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349060125490601253:g.49060125C>G-
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=)25915NDUFAF3Uncertain significance770941671RCV000376672|RCV002520154; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720234906017649060176NC_000003.11:g.49060176C>AClinGen:CA10619034C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.338-12A>C25915NDUFAF3Uncertain significance774901107RCV000284541; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906029749060297NC_000003.11:g.49060297A>CClinGen:CA2390287C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=)25915NDUFAF3Conflicting interpretations of pathogenicity202104160RCV000916872|RCV001145090; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349060313490603133:g.49060313C>TClinGen:CA2390290CN169374 not specified;
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg)25915NDUFAF3Uncertain significance544277179RCV000341917|RCV001660725; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190034906035749060357NC_000003.11:g.49060357A>GClinGen:CA2390300C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.438+9C>T25915NDUFAF3Conflicting interpretations of pathogenicity374825937RCV000401207|RCV002520155; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720234906041849060418NC_000003.11:g.49060418C>TClinGen:CA2390308C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser)25915NDUFAF3Uncertain significance1378867079RCV001147044; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349060586490605863:g.49060586T>C-
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter)25915NDUFAF3Uncertain significance527841371RCV000779416|RCV003133588; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032623,MedGen:C4748790,OMIM:61824034906060049060600NC_000003.11:g.49060600C>T-
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg)25915NDUFAF3Uncertain significance886058668RCV000278447; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906060149060601NC_000003.11:g.49060601A>GClinGen:CA10616913C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.*98A>G25915NDUFAF3Uncertain significance117051791RCV001147045; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349060703490607033:g.49060703A>G-
NM_199069.2(NDUFAF3):c.*169G>C25915NDUFAF3Uncertain significance886058669RCV000335789; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906077449060774NC_000003.11:g.49060774G>CClinGen:CA10619039C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.*194G>C25915NDUFAF3Uncertain significance78116829RCV000393605; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201034906079949060799NC_000003.11:g.49060799G>CClinGen:CA10619045C1838979 252010 Mitochondrial complex I deficiency;
NM_199069.2(NDUFAF3):c.*243G>A25915NDUFAF3Uncertain significance941353519RCV001147046; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010349060848490608483:g.49060848G>A-
NM_014165.4(NDUFAF4):c.*1748T>C29078NDUFAF4Uncertain significance886061823RCV000347095; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733723297337232NC_000006.11:g.97337232A>GClinGen:CA10624868C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1728G>A29078NDUFAF4Uncertain significance1775284209RCV001160932; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337252973372526:g.97337252C>T-
NM_014165.4(NDUFAF4):c.*1727T>C29078NDUFAF4Uncertain significance886061824RCV000397295; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733725397337253NC_000006.11:g.97337253A>GClinGen:CA10622814C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1671T>C29078NDUFAF4Uncertain significance182040819RCV000303762; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733730997337309NC_000006.11:g.97337309A>GClinGen:CA10627750C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1642T>G29078NDUFAF4Uncertain significance150444958RCV000360842; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733733897337338NC_000006.11:g.97337338A>CClinGen:CA10627754C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1487A>G29078NDUFAF4Uncertain significance748437516RCV000268561; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733749397337493NC_000006.11:g.97337493T>CClinGen:CA10627759C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1481T>C29078NDUFAF4Uncertain significance772264922RCV000297975; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733749997337499NC_000006.11:g.97337499A>GClinGen:CA10622816C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1447T>C29078NDUFAF4Uncertain significance116939090RCV000354926; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733753397337533NC_000006.11:g.97337533A>GClinGen:CA10622817C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1443G>A29078NDUFAF4Benign7758762RCV000262685; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337537973375376:g.97337537C>TClinGen:CA10622818C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1375G>T29078NDUFAF4Uncertain significance138003168RCV000320120; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337605973376056:g.97337605C>AClinGen:CA10627762C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1368A>G29078NDUFAF4Uncertain significance563778638RCV001162539; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337612973376126:g.97337612T>C-
NM_014165.4(NDUFAF4):c.*1363G>A29078NDUFAF4Uncertain significance184678986RCV000386306; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337617973376176:g.97337617C>TClinGen:CA10624869C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1362C>T29078NDUFAF4Uncertain significance545168471RCV000275165; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337618973376186:g.97337618G>AClinGen:CA10627818C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1334G>A29078NDUFAF4Uncertain significance763941216RCV001162540; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337646973376466:g.97337646C>T-
NM_014165.4(NDUFAF4):c.*1299G>A29078NDUFAF4Likely benign73758053RCV001162541; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337681973376816:g.97337681C>T-
NM_014165.4(NDUFAF4):c.*1247A>G29078NDUFAF4Uncertain significance1775290779RCV001162542; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337733973377336:g.97337733T>C-
NM_014165.4(NDUFAF4):c.*1214G>A29078NDUFAF4Likely benign17057099RCV001164580; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337766973377666:g.97337766C>T-
NM_014165.4(NDUFAF4):c.*1213C>T29078NDUFAF4Uncertain significance1456765249RCV001164581; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337767973377676:g.97337767G>A-
NM_014165.4(NDUFAF4):c.*1203A>G29078NDUFAF4Uncertain significance190331411RCV000332635; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337777973377776:g.97337777T>CClinGen:CA10624873C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1154A>G29078NDUFAF4Uncertain significance886061825RCV000389364; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697337826973378266:g.97337826T>CClinGen:CA10622823C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1121A>G29078NDUFAF4Uncertain significance886061826RCV000288104; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733785997337859NC_000006.11:g.97337859T>CClinGen:CA10627819C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1062T>G29078NDUFAF4Likely benign76370016RCV000345543; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733791897337918NC_000006.11:g.97337918A>CClinGen:CA10624874C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*1008T>C29078NDUFAF4Uncertain significance886061827RCV000291794; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733797297337972NC_000006.11:g.97337972A>GClinGen:CA10622824C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*986A>C29078NDUFAF4Uncertain significance192839240RCV000339758; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733799497337994NC_000006.11:g.97337994T>GClinGen:CA10627822C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*782T>C29078NDUFAF4Uncertain significance190211537RCV001159665; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697338198973381986:g.97338198A>G-
NM_014165.4(NDUFAF4):c.*690G>A29078NDUFAF4Uncertain significance181915821RCV000396406; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733829097338290NC_000006.11:g.97338290C>TClinGen:CA10624876C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*639A>C29078NDUFAF4Likely benign11759571RCV001159666; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697338341973383416:g.97338341T>G-
NM_014165.4(NDUFAF4):c.*612A>G29078NDUFAF4Uncertain significance886061828RCV000305325; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733836897338368NC_000006.11:g.97338368T>CClinGen:CA10627764C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*482A>G29078NDUFAF4Uncertain significance56240093RCV001159667; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697338498973384986:g.97338498T>C-
NM_014165.4(NDUFAF4):c.*459A>G29078NDUFAF4Uncertain significance560563894RCV000334469; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733852197338521NC_000006.11:g.97338521T>CClinGen:CA10627823C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*387C>T29078NDUFAF4Likely benign41288596RCV000396414; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733859397338593NC_000006.11:g.97338593G>AClinGen:CA10624880C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*382T>A29078NDUFAF4Benign1971475RCV000299285; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733859897338598NC_000006.11:g.97338598A>TClinGen:CA10624888C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*350A>C29078NDUFAF4Likely benign41288598RCV000356500; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733863097338630NC_000006.11:g.97338630T>GClinGen:CA10627824C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*332A>T29078NDUFAF4Benign10499008RCV000273464; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733864897338648NC_000006.11:g.97338648T>AClinGen:CA10627825C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*323A>T29078NDUFAF4Benign9487453RCV000312171; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733865797338657NC_000006.11:g.97338657T>AClinGen:CA10622826C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*305C>A29078NDUFAF4Uncertain significance576437181RCV001161063; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697338675973386756:g.97338675G>T-
NM_014165.4(NDUFAF4):c.*301T>A29078NDUFAF4Benign1854268RCV000369579|RCV001537432; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190069733867997338679NC_000006.11:g.97338679A>TClinGen:CA10622827C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*294T>G29078NDUFAF4Uncertain significance555318888RCV000277352; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733868697338686NC_000006.11:g.97338686A>CClinGen:CA10627828C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*289C>G29078NDUFAF4Uncertain significance143895125RCV000325406; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069733869197338691NC_000006.11:g.97338691G>CClinGen:CA10627765C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.*289C>T29078NDUFAF4Uncertain significance143895125RCV001161064; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697338691973386916:g.97338691G>A-
NM_014165.4(NDUFAF4):c.*119T>C29078NDUFAF4Uncertain significance113099906RCV001162632; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697338861973388616:g.97338861A>G-
NM_014165.4(NDUFAF4):c.*14A>C29078NDUFAF4Uncertain significance1775308769RCV001162633; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697338966973389666:g.97338966T>G-
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr)29078NDUFAF4Conflicting interpretations of pathogenicity201754378RCV000382393|RCV000423154; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN16937469733901797339017NC_000006.11:g.97339017A>TClinGen:CA3931381C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=)29078NDUFAF4Benign6684RCV000117707|RCV000271558|RCV000676773|RCV001778736; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237697339078973390786:g.97339078A>GClinGen:CA153857C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=)29078NDUFAF4Benign11402RCV000117706|RCV000328919|RCV000676774|RCV001778735; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237697339088973390886:g.97339088C>TClinGen:CA153855C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=)29078NDUFAF4Conflicting interpretations of pathogenicity372832376RCV000612845|RCV001164693; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697339238973392386:g.97339238C>TClinGen:CA3931408CN169374 not specified;
NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser)29078NDUFAF4Uncertain significance1775313687RCV001333727; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520106973392409733924097339240-
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala)29078NDUFAF4Uncertain significance886061829RCV000284369; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734463797344637NC_000006.11:g.97344637G>CClinGen:CA10627829C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=)29078NDUFAF4Uncertain significance760918613RCV001164694; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697344671973446716:g.97344671C>G-
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=)29078NDUFAF4Conflicting interpretations of pathogenicity78567928RCV000323220|RCV000879095; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190069734467697344676NC_000006.11:g.97344676G>AClinGen:CA3931452C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=)29078NDUFAF4Conflicting interpretations of pathogenicity117908219RCV000127126|RCV000756413|RCV001164695|RCV001803001; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237697345558973455586:g.97345558C>TClinGen:CA292458CN169374 not specified;
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=)29078NDUFAF4Benign/Likely benign139675421RCV000127124|RCV000892181|RCV001164696; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697345567973455676:g.97345567G>AClinGen:CA292454CN169374 not specified;
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=)29078NDUFAF4Uncertain significance1562146819RCV001164697; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697345618973456186:g.97345618C>A-
NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val)29078NDUFAF4Uncertain significance558262843RCV000498810|RCV002279722; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734567797345677NC_000006.11:g.97345677T>CClinGen:CA3931512
NM_014165.4(NDUFAF4):c.-11G>T29078NDUFAF4Uncertain significance571796525RCV001164698; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697345688973456886:g.97345688C>A-
NM_014165.4(NDUFAF4):c.-20G>T29078NDUFAF4Uncertain significance1186295770RCV001159770; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697345697973456976:g.97345697C>A-
NM_014165.4(NDUFAF4):c.-24C>G29078NDUFAF4Uncertain significance886061830RCV000380202; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734570197345701NC_000006.11:g.97345701G>CClinGen:CA10627830C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.-33G>T29078NDUFAF4Uncertain significance886061832RCV000336098; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734571097345710NC_000006.11:g.97345710C>AClinGen:CA10624910C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.-40C>T29078NDUFAF4Uncertain significance749427985RCV000404642; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734571797345717NC_000006.11:g.97345717G>AClinGen:CA10624914C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.-49C>T29078NDUFAF4Uncertain significance372635399RCV000282372; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201069734572697345726NC_000006.11:g.97345726G>AClinGen:CA3931532C1838979 252010 Mitochondrial complex I deficiency;
NM_014165.4(NDUFAF4):c.-65C>G29078NDUFAF4Uncertain significance1463385663RCV001159771; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010697345742973457426:g.97345742G>C-
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)79133NDUFAF5Pathogenic/Likely pathogenic150613320RCV000255420|RCV001266325|RCV001507283|RCV001824717|RCV001833296; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032621,MedGen:C4748785,OMIM:618238|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:260920137692981376929820:g.13769298G>CClinGen:CA9767701,OMIM:612360.0007CN517202 not provided;
NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys)79133NDUFAF5Uncertain significance1980757406RCV001329313; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201020137658491376584913765849-
NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu)79133NDUFAF5Uncertain significance1980770637RCV001336085; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201020137658901376589013765890-
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr)79133NDUFAF5Uncertain significance146837138RCV000197548|RCV000765487|RCV001276988; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609201376589213765892NC_000020.10:g.13765892G>AClinGen:CA322012CN517202 not provided;
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs)79133NDUFAF5Conflicting interpretations of pathogenicity778575439RCV000509006|RCV001089945|RCV001329312|RCV002255148; NMONDO:MONDO:0020478,MedGen:C4304725, Orphanet:99718|MONDO:MONDO:0032621,MedGen:C4748785,OMIM:618238|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202201379784113797842NC_000020.10:g.13797847dupAClinGen:CA9767961CN207347 Leber plus disease;
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)4719NDUFS1Pathogenic750971390RCV000768438|RCV002493399; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:6182262207017232207017232NC_000002.11:g.207017232G>A-
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser)4719NDUFS1Likely pathogenic1485032272RCV000768439; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207009643207009643NC_000002.11:g.207009643T>C-
NM_005006.7(NDUFS1):c.*1077A>T4719NDUFS1Uncertain significance917604810RCV001141165|RCV001141166; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022069878322069878322:g.206987832T>A-
NM_005006.7(NDUFS1):c.*966A>G4719NDUFS1Uncertain significance755776989RCV000301641|RCV000358744; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206987943206987943NC_000002.11:g.206987943T>CClinGen:CA10612140C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*938C>T4719NDUFS1Uncertain significance780498090RCV001141167|RCV001141168; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069879712069879712:g.206987971G>A-
NM_005006.7(NDUFS1):c.*866A>C4719NDUFS1Uncertain significance749790811RCV000307294|RCV000398472; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988043206988043NC_000002.11:g.206988043T>GClinGen:CA10613689C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*864G>A4719NDUFS1Uncertain significance1691159722RCV001143009|RCV001143008; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069880452069880452:g.206988045C>T-
NM_005006.7(NDUFS1):c.*756A>T4719NDUFS1Uncertain significance755460274RCV000275533|RCV000332991; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988153206988153NC_000002.11:g.206988153T>AClinGen:CA10613692C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*733A>G4719NDUFS1Benign6707707RCV000278615|RCV000389432; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988176206988176NC_000002.11:g.206988176T>CClinGen:CA10612142C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*641A>G4719NDUFS1Uncertain significance886055501RCV000317468|RCV000374378; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206988268206988268NC_000002.11:g.206988268T>CClinGen:CA10612143C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*574T>G4719NDUFS1Benign/Likely benign73065790RCV001138267|RCV001138268|RCV001796372; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022069883352069883352:g.206988335A>C-
NM_005006.7(NDUFS1):c.*561T>C4719NDUFS1Uncertain significance146538309RCV000282324|RCV000339709; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062206988348206988348NC_000002.11:g.206988348A>GClinGen:CA10612576C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*504G>A4719NDUFS1Uncertain significance548641207RCV000286009|RCV000394554; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069884052069884052:g.206988405C>TClinGen:CA10613695C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*459A>G4719NDUFS1Uncertain significance1691173843RCV001138691|RCV001138692; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069884502069884502:g.206988450T>C-
NM_005006.7(NDUFS1):c.*457T>A4719NDUFS1Benign4147728RCV000342686|RCV000394556|RCV001683335; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720222069884522069884522:g.206988452A>TClinGen:CA10613696C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*438C>T4719NDUFS1Uncertain significance561980718RCV000307565|RCV000364628; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069884712069884712:g.206988471G>AClinGen:CA10612577C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*426T>G4719NDUFS1Conflicting interpretations of pathogenicity114402169RCV001138693|RCV001138694|RCV001856776; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022069884832069884832:g.206988483A>C-
NM_005006.7(NDUFS1):c.*399G>A4719NDUFS1Benign/Likely benign77000728RCV000310899|RCV000402213|RCV001653618; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022069885102069885102:g.206988510C>TClinGen:CA10613952C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*341A>G4719NDUFS1Conflicting interpretations of pathogenicity150214409RCV001141270|RCV001141271|RCV001786443; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022069885682069885682:g.206988568T>C-
NM_005006.7(NDUFS1):c.*336G>T4719NDUFS1Benign1044120RCV000275804|RCV000368047|RCV001636929; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022069885732069885732:g.206988573C>AClinGen:CA10612578C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*256C>T4719NDUFS1Benign/Likely benign10198830RCV000333555|RCV000353381|RCV001711947; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022069886532069886532:g.206988653G>AClinGen:CA10612152C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*158T>C4719NDUFS1Benign/Likely benign3770989RCV000260695|RCV000318219; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069887512069887512:g.206988751A>GClinGen:CA10613697C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*151T>C4719NDUFS1Uncertain significance533179154RCV000283276|RCV000375427; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069887582069887582:g.206988758A>GClinGen:CA10612579C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.*130A>C4719NDUFS1Uncertain significance200736574RCV001143107|RCV001143108; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069887792069887792:g.206988779T>G-
NM_005006.7(NDUFS1):c.*53T>G4719NDUFS1Benign/Likely benign116335919RCV001143110|RCV001143109|RCV001552479; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022069888562069888562:g.206988856A>C-
NM_005006.7(NDUFS1):c.*27C>T4719NDUFS1Uncertain significance369746514RCV000288060|RCV000345317|RCV002480186; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:61822622069888822069888822:g.206988882G>AClinGen:CA2070238C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.2092+9T>C4719NDUFS1Uncertain significance1173129542RCV001332552; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102206991254206991254206991254-
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)4719NDUFS1Uncertain significance142716964RCV000291718|RCV000397460|RCV001841256|RCV001824308; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:C366190022069914472069914472:g.206991447T>CClinGen:CA2070307C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)4719NDUFS1Conflicting interpretations of pathogenicity769276632RCV001136552|RCV001136551|RCV002558295; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C095012322069914842069914842:g.206991484C>T-
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)4719NDUFS1Uncertain significance773111037RCV001136553|RCV001136554|RCV002556899|RCV002556898; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C095012322069926572069926572:g.206992657A>G-
NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser)4719NDUFS1Uncertain significance762228459RCV001332551|RCV003225178; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022206994896206994896206994896-
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)4719NDUFS1Uncertain significance138887128RCV001138790|RCV001138791|RCV001799736; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022069949082069949082:g.206994908G>A-
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)4719NDUFS1Conflicting interpretations of pathogenicity201806038RCV000195446|RCV001138792|RCV001138793|RCV002515413; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C095012322069949202069949202:g.206994920C>TClinGen:CA319780CN169374 not specified;
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)4719NDUFS1Uncertain significance1434275816RCV001138794|RCV001138795; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622069976972069976972:g.206997697C>A-
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)4719NDUFS1Conflicting interpretations of pathogenicity137889316RCV000348996|RCV000397471|RCV001728094|RCV002252098|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:C366190022069977062069977062:g.206997706C>TClinGen:CA2070426C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1393-7T>A4719NDUFS1Benign/Likely benign200409285RCV001141371|RCV001141370|RCV001510839; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720222069978362069978362:g.206997836A>T-
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)4719NDUFS1Conflicting interpretations of pathogenicity2230892RCV000127145|RCV000298259|RCV000399898|RCV000676270|RCV001000338; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:61822622070032302070032302:g.207003230C>TClinGen:CA292489C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val)4719NDUFS1Uncertain significance758095913RCV000262962|RCV000355346; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022070032382070032382:g.207003238T>CClinGen:CA2070480C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)4719NDUFS1Conflicting interpretations of pathogenicity78042826RCV000195297|RCV000513877|RCV000605317|RCV001143218|RCV001282631|RCV001143217; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070033102070033102:g.207003310G>CClinGen:CA232547C1838979 252010 Mitochondrial complex I deficiency;
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)4719NDUFS1Uncertain significance78042826RCV001141372|RCV001141373; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022070033102070033102:g.207003310G>A-
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)4719NDUFS1Benign1801318RCV000117709|RCV000301574|RCV000358690|RCV000676271|RCV001778737; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:61822622070066762070066762:g.207006676T>CClinGen:CA153859C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del)4719NDUFS1Uncertain significance1559055100RCV001335222; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520102207006727207006729207006726-
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)4719NDUFS1Uncertain significance765436915RCV000266394|RCV000323881|RCV000519440; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720222070074232070074232:g.207007423T>CClinGen:CA2070563C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)4719NDUFS1Conflicting interpretations of pathogenicity112026097RCV000429059|RCV001143219|RCV001143220|RCV001512828; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022070074812070074812:g.207007481G>AClinGen:CA2070575CN169374 not specified;
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)4719NDUFS1Uncertain significance774232299RCV001136653|RCV001136654; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070087432070087432:g.207008743A>G-
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=)4719NDUFS1Benign/Likely benign2230890RCV000127141|RCV000270808|RCV000381710|RCV002055703; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022070087542070087542:g.207008754G>AClinGen:CA292484C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)4719NDUFS1Benign1127566RCV000117710|RCV000328157|RCV000385000|RCV000676273|RCV001778738; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:61822622070087632070087632:g.207008763C>AClinGen:CA153862C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)4719NDUFS1Uncertain significance142941808RCV001335223|RCV002546721|RCV003325564; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123|MedGen:CN5172022207009662207009662207009662-
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)4719NDUFS1Conflicting interpretations of pathogenicity148726142RCV001136655|RCV001136656|RCV002556902; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022070097202070097202:g.207009720C>T-
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)4719NDUFS1Conflicting interpretations of pathogenicity148544177RCV000419653|RCV001138898|RCV001138899|RCV002061445; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022070117532070117532:g.207011753A>GClinGen:CA2070717CN169374 not specified;
NM_005006.7(NDUFS1):c.551+14C>A4719NDUFS1Benign/Likely benign10206644RCV000127140|RCV000293249|RCV000350546|RCV001523312; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022070122412070122412:g.207012241G>TClinGen:CA292483C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val)4719NDUFS1Uncertain significance764520533RCV001332554|RCV001365457; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207012330207012330207012330-
NM_005006.7(NDUFS1):c.421-7A>G4719NDUFS1Conflicting interpretations of pathogenicity192949406RCV000127139|RCV000296747|RCV000388644|RCV000888456; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022070123922070123922:g.207012392T>CClinGen:CA292482C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)4719NDUFS1Benign/Likely benign11548670RCV000127138|RCV000334929|RCV000395218|RCV000676275; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022070124832070124832:g.207012483A>GClinGen:CA292480C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu)4719NDUFS1Uncertain significance757139275RCV000299872|RCV000338484; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022070125012070125012:g.207012501G>TClinGen:CA2070790C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr)4719NDUFS1Uncertain significance886055502RCV000303664|RCV000395226; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070125332070125332:g.207012533C>TClinGen:CA2070794C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)4719NDUFS1Uncertain significance780235386RCV001141490|RCV001141489; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070125362070125362:g.207012536A>G-
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly)4719NDUFS1Uncertain significance1692265722RCV001141491|RCV001141492; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070137452070137452:g.207013745T>C-
NM_005006.7(NDUFS1):c.280A>G (p.Met94Val)4719NDUFS1Uncertain significance763697779RCV001332553|RCV001859297; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172022207013802207013802207013802-
NM_005006.7(NDUFS1):c.261+6T>C4719NDUFS1Uncertain significance748906579RCV001143328|RCV001143327; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022070145362070145362:g.207014536A>G-
NM_005006.7(NDUFS1):c.123C>T (p.Val41=)4719NDUFS1Benign/Likely benign2230888RCV000127147|RCV000275731|RCV000386489|RCV002055704; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190022070171732070171732:g.207017173G>AClinGen:CA292492C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)4719NDUFS1Uncertain significance774332882RCV001143330|RCV001143329|RCV002557052; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720222070172262070172262:g.207017226T>C-
NM_005006.7(NDUFS1):c.63T>C (p.Val21=)4719NDUFS1Conflicting interpretations of pathogenicity756632601RCV001143331|RCV001143332|RCV002070724; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720222070172332070172332:g.207017233A>G-
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu)4719NDUFS1Uncertain significance1367512688RCV001136756|RCV001136757; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070183712070183712:g.207018371A>T-
NM_005006.7(NDUFS1):c.-31A>G4719NDUFS1Uncertain significance1687818178RCV001136759|RCV001136758; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070240912070240912:g.207024091T>C-
NM_005006.7(NDUFS1):c.-38T>G4719NDUFS1Uncertain significance1559071008RCV001136761|RCV001136760; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070240982070240982:g.207024098A>C-
NM_005006.7(NDUFS1):c.-47C>G4719NDUFS1Benign4147707RCV000333207|RCV000371529|RCV001672569; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C36619002207024107207024107NC_000002.11:g.207024107G>CClinGen:CA10612589C0023264 256000 Leigh syndrome;
NM_005006.7(NDUFS1):c.-61G>C4719NDUFS1Uncertain significance367762150RCV001138989|RCV001138990; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070241212070241212:g.207024121C>G-
NM_005006.7(NDUFS1):c.-64T>C4719NDUFS1Conflicting interpretations of pathogenicity145023130RCV001138991|RCV001138992; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070241242070241242:g.207024124A>G-
NM_005006.7(NDUFS1):c.-73C>A4719NDUFS1Uncertain significance367649369RCV001138993|RCV001138994; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022070241332070241332:g.207024133G>T-
NM_005006.7(NDUFS1):c.-75A>G4719NDUFS1Conflicting interpretations of pathogenicity138818421RCV001138995|RCV001138996|RCV003438669; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022070241352070241352:g.207024135T>C-
NM_005006.7(NDUFS1):c.-76G>A4719NDUFS1Conflicting interpretations of pathogenicity116137442RCV001141606|RCV001141607|RCV001786444; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190022070241362070241362:g.207024136C>T-
NM_005006.7(NDUFS1):c.-101G>A4719NDUFS1Uncertain significance983757976RCV001141609|RCV001141608; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622070241612070241612:g.207024161C>T-
NM_005006.6(NDUFS1):c.-149T>G4719NDUFS1Uncertain significance572965960RCV001141610|RCV001141611; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201022070242092070242092:g.207024209A>C-
NM_004550.5(NDUFS2):c.-388G>A4720NDUFS2Uncertain significance3813623RCV000278644; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161169165161169165NC_000001.10:g.161169165G>AClinGen:CA10608511C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-388G>T4720NDUFS2Benign3813623RCV000336009|RCV001610796|RCV003343753; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:61822811611691651611691651:g.161169165G>TClinGen:CA10608534C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-346G>A4720NDUFS2Uncertain significance189165754RCV000400511; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161169207161169207NC_000001.10:g.161169207G>AClinGen:CA10608140C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-298C>G4720NDUFS2Uncertain significance41270845RCV000305513; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161169255161169255NC_000001.10:g.161169255C>GClinGen:CA10608537C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-223C>G4720NDUFS2Conflicting interpretations of pathogenicity74124661RCV000127153|RCV001100892; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611719531611719531:g.161171953C>GClinGen:CA292500CN169374 not specified;
NM_004550.5(NDUFS2):c.-218G>A4720NDUFS2Uncertain significance563669084RCV000357971; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161171958161171958NC_000001.10:g.161171958G>AClinGen:CA10608538C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-159C>A4720NDUFS2Uncertain significance886045456RCV000400876; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172017161172017NC_000001.10:g.161172017C>AClinGen:CA10608540C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-156G>A4720NDUFS2Uncertain significance886045457RCV000308844; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172020161172020NC_000001.10:g.161172020G>AClinGen:CA10607980C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-28C>T4720NDUFS2Uncertain significance886045458RCV000366006; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172148161172148NC_000001.10:g.161172148C>TClinGen:CA10607984C1838979 252010 Mitochondrial complex I deficiency;
NM_004550.5(NDUFS2):c.-20C>T4720NDUFS2Conflicting interpretations of pathogenicity201554004RCV000127154|RCV000269081; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611721561611721561:g.161172156C>TClinGen:CA292501C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr)4720NDUFS2Benign11538340RCV000326214|RCV000676341|RCV001001508; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:61822811611722331611722331:g.161172233C>AClinGen:CA1208457,UniProtKB:O75306#VAR_034150C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.95+14C>T4720NDUFS2Uncertain significance751472475RCV000369303; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161172284161172284NC_000001.10:g.161172284C>TClinGen:CA1208472C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)4720NDUFS2Uncertain significance886045459RCV000276914|RCV002519404|RCV003343754; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:6182281161173229161173229NC_000001.10:g.161173229G>AClinGen:CA10607985C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=)4720NDUFS2Conflicting interpretations of pathogenicity145578059RCV000909958|RCV001097157; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611732481611732481:g.161173248A>G-
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)4720NDUFS2Uncertain significance774162709RCV000195688|RCV001332476|RCV003343695|RCV003387798|RCV003389320; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MedGen:CN169374|MedGen:CN375805,OMIM:62056911611732891611732891:g.161173289A>GClinGen:CA320051,OMIM:602985.0004CN169374 not specified;
NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=)4720NDUFS2Uncertain significance569128565RCV000329593; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161173293161173293NC_000001.10:g.161173293A>GClinGen:CA1208491C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val)4720NDUFS2Uncertain significance754241926RCV000386683|RCV001859752|RCV003343755; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:6182281161176331161176331NC_000001.10:g.161176331A>GClinGen:CA1208536C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=)4720NDUFS2Uncertain significance140324736RCV000280649; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161179030161179030NC_000001.10:g.161179030C>TClinGen:CA1208573C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.514+11C>T4720NDUFS2Conflicting interpretations of pathogenicity76309459RCV000127148|RCV000319217|RCV002055705; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011611791141611791141:g.161179114C>TClinGen:CA292494C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.515-3C>A4720NDUFS2Conflicting interpretations of pathogenicity149789018RCV000371628|RCV000929918; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001161179270161179270NC_000001.10:g.161179270C>AClinGen:CA1208605C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=)4720NDUFS2Conflicting interpretations of pathogenicity41428447RCV000196671|RCV000927692|RCV001098903; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611792981611792981:g.161179298G>AClinGen:CA321095CN169374 not specified;
NM_001377299.1(NDUFS2):c.628-17del4720NDUFS2Conflicting interpretations of pathogenicity775653766RCV001335147|RCV002070198; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161179628161179628161179627-
NM_001377299.1(NDUFS2):c.628-12C>T4720NDUFS2Conflicting interpretations of pathogenicity202121443RCV000127149|RCV000286025|RCV002055706; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011611796351611796351:g.161179635C>TClinGen:CA292495C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.703-11T>G4720NDUFS2Uncertain significance770054202RCV000984961; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611798901611798901:g.161179890T>G-
NM_001377299.1(NDUFS2):c.866+8G>A4720NDUFS2Conflicting interpretations of pathogenicity142594036RCV000127150|RCV000949872|RCV001098904; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611801871611801871:g.161180187G>AClinGen:CA292496CN169374 not specified;
NM_001377299.1(NDUFS2):c.867T>C (p.Ser289=)4720NDUFS2Uncertain significance886045461RCV000397307; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161180381161180381NC_000001.10:g.161180381T>CClinGen:CA10608552C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.903C>T (p.Asp301=)4720NDUFS2Uncertain significance886045462RCV000284939; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161180417161180417NC_000001.10:g.161180417C>TClinGen:CA10608513C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)4720NDUFS2Conflicting interpretations of pathogenicity144937332RCV000200866|RCV000346933|RCV000766503|RCV003133172; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:61822811611804731611804731:g.161180473T>CClinGen:CA325447C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)4720NDUFS2Conflicting interpretations of pathogenicity35086265RCV000198518|RCV000224386|RCV000986449|RCV001098905; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611804821611804821:g.161180482G>AClinGen:CA323026CN517202 not provided;
NM_001377299.1(NDUFS2):c.986+12A>G4720NDUFS2Benign/Likely benign11265565RCV000127151|RCV000397312|RCV002055707|RCV003343653; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:61822811611805121611805121:g.161180512A>GClinGen:CA292497C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala)4720NDUFS2Benign/Likely benign11576415RCV000117711|RCV000306851|RCV000676342|RCV003343642; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:61822811611822081611822081:g.161182208C>GClinGen:CA153865,UniProtKB:O75306#VAR_034152C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)4720NDUFS2Conflicting interpretations of pathogenicity144411579RCV000725777|RCV001001527|RCV001100725|RCV002515415; NMedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C095012311611831911611831911:g.161183191C>GClinGen:CA321716CN169374 not specified;
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=)4720NDUFS2Uncertain significance145959971RCV000199124|RCV000761488|RCV003343694; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:61822811611832651611832651:g.161183265G>AClinGen:CA323661CN169374 not specified;
NM_001377299.1(NDUFS2):c.1212+7A>G4720NDUFS2Conflicting interpretations of pathogenicity36233987RCV000363834|RCV000955805; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001161183272161183272NC_000001.10:g.161183272A>GClinGen:CA1208803C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=)4720NDUFS2Uncertain significance886045464RCV000315544; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101161183441161183441NC_000001.10:g.161183441A>GClinGen:CA10608144C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=)4720NDUFS2Benign1136207RCV000117712|RCV000367763|RCV000676343|RCV003343643; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:61822811611835161611835161:g.161183516C>TClinGen:CA153867C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1354+5G>A4720NDUFS2Conflicting interpretations of pathogenicity190184430RCV000127152|RCV000275644|RCV001303885; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011611837161611837161:g.161183716G>AClinGen:CA292498C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1354+10C>A4720NDUFS2Conflicting interpretations of pathogenicity201275792RCV000318843|RCV000840975; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN5172021161183721161183721NC_000001.10:g.161183721C>AClinGen:CA1208856C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.1355-4C>G4720NDUFS2Conflicting interpretations of pathogenicity147235167RCV000885375|RCV001100981; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611839421611839421:g.161183942C>GClinGen:CA1208875CN169374 not specified;
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr)4720NDUFS2Uncertain significance140731056RCV001100982|RCV003346314|RCV002556037; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MedGen:C366190011611839581611839581:g.161183958T>C-
NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=)4720NDUFS2Conflicting interpretations of pathogenicity149953813RCV000968828|RCV001100983; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611839621611839621:g.161183962A>G-
NM_001377299.1(NDUFS2):c.*108A>T4720NDUFS2Conflicting interpretations of pathogenicity191955041RCV000320283|RCV001539894; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001161184091161184091NC_000001.10:g.161184091A>TClinGen:CA10608146C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.*114A>G4720NDUFS2Benign1136224RCV000377195|RCV001711872|RCV003343756; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:6182281161184097161184097NC_000001.10:g.161184097A>GClinGen:CA10608523C1838979 252010 Mitochondrial complex I deficiency;
NM_001377299.1(NDUFS2):c.*187G>A4720NDUFS2Uncertain significance886045469RCV000289999; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011611841701611841701:g.161184170G>AClinGen:CA10607990C1838979 252010 Mitochondrial complex I deficiency;
NM_004551.3(NDUFS3):c.-15C>G4722NDUFS3Uncertain significance950097510RCV001103764|RCV001103765; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611476006294760062911:g.47600629C>G-
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys)4722NDUFS3Uncertain significance201457989RCV001103766|RCV001103767; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611476006774760067711:g.47600677C>T-
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser)4722NDUFS3Uncertain significance368907187RCV000342182|RCV000403906|RCV002517241|RCV002515416; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MeSH:D030342,MedGen:C0950123114760083247600832NC_000011.9:g.47600832C>TClinGen:CA321939C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)4722NDUFS3Conflicting interpretations of pathogenicity770306617RCV000301677|RCV000358793|RCV000616791; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN16937411476008444760084411:g.47600844T>CClinGen:CA5977804C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)4722NDUFS3Conflicting interpretations of pathogenicity141187412RCV000200026|RCV001105706|RCV001105707|RCV002515417; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202114760087647600876NC_000011.9:g.47600876C>TClinGen:CA324576CN169374 not specified;
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln)4722NDUFS3Uncertain significance1555198759RCV000623097|RCV001105709|RCV001105708; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611476020924760209211:g.47602092G>AClinGen:CA380357590C0950123 Inborn genetic diseases;
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His)4722NDUFS3Uncertain significance886048391RCV000261687|RCV000300392; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011476021334760213311:g.47602133T>CClinGen:CA10631038C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.381+5G>T4722NDUFS3Uncertain significance886048392RCV000261462|RCV000352949; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611476025414760254111:g.47602541G>TClinGen:CA10635057C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.381+6T>C4722NDUFS3Uncertain significance377579231RCV000332963|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:CN51720211476025424760254211:g.47602542T>CClinGen:CA5977940,OMIM:603846.0004C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His)4722NDUFS3Uncertain significance780005953RCV001106824|RCV001106825; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611476036834760368311:g.47603683G>A-
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)4722NDUFS3Conflicting interpretations of pathogenicity148331180RCV000274500|RCV000331648|RCV000884571; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900114760373347603733NC_000011.9:g.47603733G>CClinGen:CA320767C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)4722NDUFS3Conflicting interpretations of pathogenicity77113494RCV000127155|RCV001000472|RCV000969794|RCV001107482|RCV001107483; NMedGen:CN169374|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611476039844760398411:g.47603984T>CClinGen:CA292502CN169374 not specified;
NM_004551.3(NDUFS3):c.628-7C>T4722NDUFS3Conflicting interpretations of pathogenicity11039306RCV000127156|RCV000292090|RCV000383892|RCV000964320|RCV003114278; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230114760585947605859NC_000011.9:g.47605859C>TClinGen:CA292504C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.657G>A (p.Val219=)4722NDUFS3Conflicting interpretations of pathogenicity377323760RCV000325919|RCV000382544|RCV002056209; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900114760589547605895NC_000011.9:g.47605895G>AClinGen:CA5978068C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His)4722NDUFS3Uncertain significance201371939RCV001107484|RCV001107485; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011476059754760597511:g.47605975G>A-
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)4722NDUFS3Conflicting interpretations of pathogenicity3740654RCV000614898|RCV001103853|RCV001103854|RCV002531615; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190011476059854760598511:g.47605985G>AClinGen:CA5978089CN169374 not specified;
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg)4722NDUFS3Uncertain significance752314902RCV000285816|RCV000342978|RCV002520728; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123114760599147605991NC_000011.9:g.47605991T>GClinGen:CA5978093C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)4722NDUFS3Conflicting interpretations of pathogenicity117981655RCV000284678|RCV000406732|RCV000939941; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900114760602147606021NC_000011.9:g.47606021T>CClinGen:CA5978099C0023264 256000 Leigh syndrome;
NM_004551.3(NDUFS3):c.*32G>A4722NDUFS3Uncertain significance189495301RCV001103855|RCV001103856; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011476060654760606511:g.47606065G>A-
NM_004551.3(NDUFS3):c.*39C>T4722NDUFS3Uncertain significance145121567RCV001105800|RCV001105801; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011476060724760607211:g.47606072C>T-
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)4724NDUFS4Pathogenic/Likely pathogenic-1RCV003155692|RCV003466026; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055294210652942106-
NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)4724NDUFS4Pathogenic/Likely pathogenic-1RCV002717926|RCV003466002; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055294220452942207NC_000005.9:g.52942204_52942207del-
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)4724NDUFS4Pathogenic/Likely pathogenic1445075330RCV000007290|RCV001269113|RCV002508185; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202552978987529789885:g.52978987_52978988insCAAGTOMIM:602694.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter)4724NDUFS4Pathogenic104893899RCV000007293; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552856536528565365:g.52856536G>AClinGen:CA118550,OMIM:602694.0004C1838979 252010 Mitochondrial complex I deficiency;
NM_002495.4(NDUFS4):c.99-1G>A4724NDUFS4Pathogenic376281345RCV000007294|RCV000588112; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655289928152899281NC_000005.9:g.52899281G>AClinGen:CA3264179,OMIM:602694.0005C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)4724NDUFS4Pathogenic121908985RCV000007291|RCV000484109|RCV002307358; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50655294217552942175NC_000005.9:g.52942176delClinGen:CA118547,OMIM:602694.0002
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)4724NDUFS4Pathogenic104893898RCV000578296|RCV000735424|RCV002307359|RCV002298437; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202552942201529422015:g.52942201C>TClinGen:CA118548,OMIM:602694.0003C1838951 Leigh syndrome due to mitochondrial complex I deficiency;
NM_002495.4(NDUFS4):c.350+1G>A4724NDUFS4Pathogenic1260453815RCV002261480|RCV002307852|RCV003464420; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105529422365294223652942236-
NM_002495.4(NDUFS4):c.350+5G>A4724NDUFS4Pathogenic1751865973RCV001291034|RCV001269385; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010; Human Phenotype Ontology:HP:0006948,Human Phenotype Ontology:HP:0007105,Human Phenotype Ontology:HP:0007309,Human Phenotype Ontology:HP:0007353,MedGen:C18564552942240529422405:g.52942240G>AOMIM:602694.0007
NM_002495.4(NDUFS4):c.393dup (p.Glu132fs)4724NDUFS4Pathogenic-1RCV002664365|RCV003459775; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295442052954421NC_000005.9:g.52954423dup-
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)4724NDUFS4Pathogenic587776949RCV000133549|RCV000197700|RCV000586784|RCV002513319; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C095012355297898252978982NC_000005.9:g.52978985delClinGen:CA130809,OMIM:602694.0006C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.26del (p.Val9fs)4724NDUFS4Likely pathogenic-1RCV003471394; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055285651852856518-
NM_002495.4(NDUFS4):c.136dup (p.Gln46fs)4724NDUFS4Likely pathogenic-1RCV003463107; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055289931752899318-
NM_002495.4(NDUFS4):c.235del (p.Ile79fs)4724NDUFS4Likely pathogenic-1RCV003463104; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055294212052942120-
NM_002495.4(NDUFS4):c.342G>A (p.Trp114Ter)4724NDUFS4Likely pathogenic-1RCV003471396; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055294222752942227-
NM_002495.4(NDUFS4):c.350+1G>T4724NDUFS4Likely pathogenic-1RCV003225681; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055294223652942236-
NM_002495.4(NDUFS4):c.351-2A>C4724NDUFS4Likely pathogenic-1RCV003463106; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295437952954379-
NM_002495.4(NDUFS4):c.351-2A>G4724NDUFS4Likely pathogenic-1RCV003448862; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295437952954379-
NM_002495.4(NDUFS4):c.351-1G>C4724NDUFS4Likely pathogenic-1RCV003228710; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295438052954380-
NM_002495.4(NDUFS4):c.415G>T (p.Glu139Ter)4724NDUFS4Likely pathogenic-1RCV003463102; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295444552954445-
NM_002495.4(NDUFS4):c.424G>T (p.Gly142Ter)4724NDUFS4Likely pathogenic-1RCV003471395; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295445452954454-
NM_002495.4(NDUFS4):c.424+2T>A4724NDUFS4Likely pathogenic-1RCV003463103; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295445652954456-
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)4724NDUFS4Likely pathogenic1740730588RCV001193078|RCV003469307; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552978993529789945:g.52978993_52978994insCAAGT-
NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs)4724NDUFS4Likely pathogenic766516611RCV001260294; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552978996529789975:g.52978996_52978997insGTCTT-
NM_002495.4(NDUFS4):c.479dup (p.Tyr160Ter)4724NDUFS4Likely pathogenic-1RCV003471397; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055297900152979002-
NM_002495.4(NDUFS4):c.-22C>A4724NDUFS4Uncertain significance144843461RCV000268982|RCV000365896; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552856471528564715:g.52856471C>AClinGen:CA3264111C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.-6A>T4724NDUFS4Conflicting interpretations of pathogenicity73754255RCV000198638|RCV001151560|RCV001151559; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552856487528564875:g.52856487A>TClinGen:CA323173CN169374 not specified;
NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile)4724NDUFS4Uncertain significance-1RCV003148505; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055285649552856495-
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)4724NDUFS4Uncertain significance148595893RCV001154571|RCV001154572|RCV001824417; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900552856497528564975:g.52856497C>A-
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)4724NDUFS4Uncertain significance1329465366RCV001154573|RCV001154574; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552856501528565015:g.52856501G>T-
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)4724NDUFS4Conflicting interpretations of pathogenicity185711494RCV000335188|RCV000960853|RCV001154575|RCV001154576; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552856502528565025:g.52856502G>CClinGen:CA325091CN169374 not specified;
NM_002495.4(NDUFS4):c.12G>C (p.Val4=)4724NDUFS4Benign2279516RCV000117713|RCV000326276|RCV000387876|RCV000676473; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900552856504528565045:g.52856504G>CClinGen:CA153869C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)4724NDUFS4Conflicting interpretations of pathogenicity149323691RCV000198881|RCV000295911|RCV000329830|RCV000660466|RCV002517243; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MeSH:D030342,MedG552856505528565055:g.52856505T>CClinGen:CA323413C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)4724NDUFS4Uncertain significance201430870RCV001155411|RCV001155412|RCV002559496; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202552856569528565695:g.52856569C>T-
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)4724NDUFS4Conflicting interpretations of pathogenicity138941073RCV000127157|RCV000280441|RCV000386502|RCV000905987; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190055289928552899285NC_000005.9:g.52899285G>AClinGen:CA292505C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys)4724NDUFS4Uncertain significance1022912416RCV001157093|RCV001157094|RCV003227918; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202552899290528992905:g.52899290G>A-
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)4724NDUFS4Conflicting interpretations of pathogenicity142368721RCV000906096|RCV001157095|RCV001157096; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552899333528993335:g.52899333A>GClinGen:CA3264190CN169374 not specified;
NM_002495.4(NDUFS4):c.178-4G>C4724NDUFS4Conflicting interpretations of pathogenicity200384843RCV000337873|RCV000395461|RCV002523527; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900552942059529420595:g.52942059G>CClinGen:CA3264238C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)4724NDUFS4Benign31304RCV000117714|RCV000280222|RCV000342200|RCV000676474; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900552942083529420835:g.52942083A>CClinGen:CA153871C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)4724NDUFS4Benign31303RCV000117715|RCV000302455|RCV000398452|RCV000676475; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900552942197529421975:g.52942197A>GClinGen:CA153873C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.350+6T>C4724NDUFS4Uncertain significance3733833RCV001151647|RCV001151648; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552942241529422415:g.52942241T>C-
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)4724NDUFS4Conflicting interpretations of pathogenicity747359752RCV000714799|RCV000714800|RCV002532977; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055295438552954385NC_000005.9:g.52954385G>C-
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=)4724NDUFS4Conflicting interpretations of pathogenicity368876333RCV000911644|RCV001154689|RCV001154690; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506552954390529543905:g.52954390C>G-
NM_002495.4(NDUFS4):c.424+19dup4724NDUFS4Benign/Likely benign140172554RCV000310876|RCV000363200|RCV001515833|RCV001778936|RCV002298576; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374552954468529544695:g.52954468_52954469insTClinGen:CA3264304C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr)4724NDUFS4Uncertain significance768080528RCV001328959; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105529790295297902952979029-
NM_002495.4(NDUFS4):c.*46G>A4724NDUFS4Benign567RCV000270413|RCV000313869|RCV001653697; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900552979097529790975:g.52979097G>AClinGen:CA3264378C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.*79A>G4724NDUFS4Uncertain significance886060699RCV000274350|RCV000370910; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201055297913052979130NC_000005.9:g.52979130A>GClinGen:CA10624967C0023264 256000 Leigh syndrome;
NM_002495.4(NDUFS4):c.*88T>A4724NDUFS4Uncertain significance1740746273RCV001154691|RCV001154692; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010552979139529791395:g.52979139T>A-
NM_004553.4(NDUFS6):c.-12C>T4726NDUFS6Conflicting interpretations of pathogenicity145747389RCV000127158|RCV000328048|RCV001000551; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032615,MedGen:C4748767,OMIM:6182325180152018015205:g.1801520C>TClinGen:CA292507C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val)4726NDUFS6Uncertain significance773943416RCV001151849; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105180154218015425:g.1801542C>T-
NM_004553.6(NDUFS6):c.24C>T (p.Cys8=)4726NDUFS6Conflicting interpretations of pathogenicity886060511RCV000384846|RCV000942799; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202518015551801555NC_000005.9:g.1801555C>TClinGen:CA10620253C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp)4726NDUFS6Conflicting interpretations of pathogenicity376509886RCV000917913|RCV001151850|RCV001276588; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:26095180155618015565:g.1801556C>T-
NM_004553.6(NDUFS6):c.27G>C (p.Arg9=)4726NDUFS6Uncertain significance886060512RCV000283526; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518015581801558NC_000005.9:g.1801558G>CClinGen:CA10624440C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)4726NDUFS6Conflicting interpretations of pathogenicity755222875RCV000901142|RCV001153088|RCV001276589; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:26095180156218015625:g.1801562C>G-
NM_004553.6(NDUFS6):c.155G>C (p.Arg52Thr)4726NDUFS6Uncertain significance768060274RCV000322258; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518024571802457NC_000005.9:g.1802457G>CClinGen:CA10624315C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=)4726NDUFS6Conflicting interpretations of pathogenicity140887831RCV000378962|RCV000909647|RCV001271674; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609518144641814464NC_000005.9:g.1814464C>TClinGen:CA3187621C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.310-15T>C4726NDUFS6Benign10058270RCV000287086|RCV001513342|RCV001543892; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032615,MedGen:C4748767,OMIM:618232518159501815950NC_000005.9:g.1815950T>CClinGen:CA3187709C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.369C>T (p.His123=)4726NDUFS6Conflicting interpretations of pathogenicity745565855RCV000335066|RCV002523518; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202518160241816024NC_000005.9:g.1816024C>TClinGen:CA3187728C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.*15C>T4726NDUFS6Conflicting interpretations of pathogenicity200445799RCV000444385|RCV000396662; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518160451816045NC_000005.9:g.1816045C>TClinGen:CA3187732C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.*27A>G4726NDUFS6Uncertain significance370587409RCV000281355; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010518160571816057NC_000005.9:g.1816057A>GClinGen:CA3187739C1838979 252010 Mitochondrial complex I deficiency;
NM_004553.6(NDUFS6):c.*46C>T4726NDUFS6Conflicting interpretations of pathogenicity145407020RCV001155705|RCV001541796; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619005181607618160765:g.1816076C>T-
NM_004553.6(NDUFS6):c.*99G>C4726NDUFS6Uncertain significance994577006RCV001155706; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520105181612918161295:g.1816129G>C-
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val)374291NDUFS7Uncertain significance775410920RCV001126807|RCV001127210|RCV002558250|RCV002556763; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C0950123|MedGen:CN517202191383930138393019:g.1383930C>T-
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)374291NDUFS7Uncertain significance201222388RCV000287249|RCV000400936; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913878141387814NC_000019.9:g.1387814T>CClinGen:CA9043014C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=)374291NDUFS7Uncertain significance1193585808RCV001127211|RCV001127212; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506191387838138783819:g.1387838T>G-
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)374291NDUFS7Benign1142530RCV000117716|RCV000342300|RCV000407392|RCV000676449|RCV001544211; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032608,MedGen:C4748752,OMIM:618224191388538138853819:g.1388538C>TClinGen:CA153875,UniProtKB:O75251#VAR_014482C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)374291NDUFS7Conflicting interpretations of pathogenicity147710123RCV001127213|RCV001123144|RCV001698192; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900191388847138884719:g.1388847G>AClinGen:CA9043125CN169374 not specified;
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)374291NDUFS7Conflicting interpretations of pathogenicity140236960RCV000127162|RCV000301558|RCV000365710|RCV000885712; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C36619001913888621388862NC_000019.9:g.1388862C>TClinGen:CA292511C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)374291NDUFS7Conflicting interpretations of pathogenicity565395435RCV001123145|RCV001123146|RCV002556658|RCV003339513; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MeSH:D030342,MedGen:C0950123191388867138886719:g.1388867C>T-
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=)374291NDUFS7Conflicting interpretations of pathogenicity375120743RCV000307576|RCV000405173|RCV000891844; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021913909111390911NC_000019.9:g.1390911C>TClinGen:CA9043328C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met)374291NDUFS7Uncertain significance368174338RCV000277814|RCV000362301; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913909631390963NC_000019.9:g.1390963G>AClinGen:CA9043332C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.408+10G>T374291NDUFS7Benign2074896RCV000127163|RCV000368788|RCV000332803|RCV000676450; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001913910591391059NC_000019.9:g.1391059G>TClinGen:CA292513C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.455+13C>T374291NDUFS7Conflicting interpretations of pathogenicity376025020RCV001124228|RCV001124230|RCV002558225; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202191391177139117719:g.1391177C>T-
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)374291NDUFS7Conflicting interpretations of pathogenicity757488156RCV001124231|RCV001124232|RCV001569783; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202191393310139331019:g.1393310C>T-
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=)374291NDUFS7Uncertain significance144570086RCV000274190|RCV000319795; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506191395406139540619:g.1395406C>AClinGen:CA10642357C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly)374291NDUFS7Uncertain significance775856806RCV000197172|RCV000279854|RCV000374513|RCV002517244; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C0950123191395458139545819:g.1395458C>GClinGen:CA321615C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.*8G>A374291NDUFS7Uncertain significance756081375RCV000290128|RCV000398809; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010191395495139549519:g.1395495G>AClinGen:CA9043498C0023264 256000 Leigh syndrome;
NM_024407.5(NDUFS7):c.*16C>T374291NDUFS7Conflicting interpretations of pathogenicity573586959RCV000200114|RCV001127321|RCV001126907; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010191395503139550319:g.1395503C>TClinGen:CA324673CN169374 not specified;
NM_024407.5(NDUFS7):c.*94G>A374291NDUFS7Uncertain significance1329105128RCV001127322|RCV001127323; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506191395581139558119:g.1395581G>A-
NM_024407.5(NDUFS7):c.*13C>A-1NDUFS7;GAMTBenign/Likely benign11551663RCV000127159|RCV000345055|RCV000335492|RCV000390875|RCV001126906; NMedGen:CN169374|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913955001395500NC_000019.9:g.1395500C>AClinGen:CA292508C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_002496.4(NDUFS8):c.-45A>C4728NDUFS8Benign/Likely benign4147776RCV000127164|RCV001108401|RCV001108402; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116779815667798156NC_000011.9:g.67798156A>CClinGen:CA292514CN169374 not specified;
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)4728NDUFS8Conflicting interpretations of pathogenicity150278938RCV000765008|RCV000726015|RCV001108403|RCV003458354|RCV002517245; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032606,MedGen:C4748737,OMIM:618222|MeSH:D030342,MedGen:C0950123116779962267799622NC_000011.9:g.67799622C>TClinGen:CA324025
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)4728NDUFS8Uncertain significance139334907RCV001103230|RCV001103231; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611677996236779962311:g.67799623G>A-
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)4728NDUFS8Conflicting interpretations of pathogenicity142658611RCV000923575|RCV001103233|RCV001103232; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611677996376779963711:g.67799637C>A-
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)4728NDUFS8Uncertain significance764943259RCV000317408|RCV000372098; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611678004136780041311:g.67800413G>AClinGen:CA6146386C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.199+5G>A4728NDUFS8Uncertain significance373522607RCV000282341|RCV000337029; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116780048467800484NC_000011.9:g.67800484G>AClinGen:CA6146399C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.199+15T>G4728NDUFS8Benign3115545RCV000283040|RCV000377576|RCV001515841|RCV001778899; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032606,MedGen:C4748737,OMIM:618222116780049467800494NC_000011.9:g.67800494T>GClinGen:CA6146400C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.200-14C>T4728NDUFS8Conflicting interpretations of pathogenicity373128833RCV000342747|RCV000401109|RCV002520746; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900116780056467800564NC_000011.9:g.67800564C>TClinGen:CA6146422C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)4728NDUFS8Conflicting interpretations of pathogenicity144125742RCV000431887|RCV000676967|RCV001111479|RCV001111480; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611678006336780063311:g.67800633G>AClinGen:CA6146432CN517202 not provided;
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)4728NDUFS8Uncertain significance746246241RCV001111482|RCV001111481; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611678006476780064711:g.67800647C>T-
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)4728NDUFS8Conflicting interpretations of pathogenicity748754134RCV000307867|RCV000344135|RCV000490220; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116780067767800677NC_000011.9:g.67800677C>TClinGen:CA6146437C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)4728NDUFS8Conflicting interpretations of pathogenicity149201273RCV000308579|RCV000390917|RCV000907728; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900116780380667803806NC_000011.9:g.67803806C>TClinGen:CA6146535C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.501+12C>G4728NDUFS8Conflicting interpretations of pathogenicity372004236RCV000367973|RCV000390827|RCV002056233; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116780386067803860NC_000011.9:g.67803860C>GClinGen:CA10631392C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.502-13C>T4728NDUFS8Conflicting interpretations of pathogenicity199793417RCV000314847|RCV000369510|RCV000427186|RCV002056234; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:C3661900116780391667803916NC_000011.9:g.67803916C>TClinGen:CA6146555C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.502-10C>T4728NDUFS8Conflicting interpretations of pathogenicity369961682RCV000260796|RCV000315895|RCV000602666|RCV000898642; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN517202116780391967803919NC_000011.9:g.67803919C>TClinGen:CA6146557C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)4728NDUFS8Uncertain significance1371377502RCV001114883|RCV001114884; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011678040016780400111:g.67804001G>A-
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)4728NDUFS8Conflicting interpretations of pathogenicity1804688RCV000265926|RCV000356692|RCV001718621; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900116780402467804024NC_000011.9:g.67804024C>TClinGen:CA6146575C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr)4728NDUFS8Uncertain significance578145610RCV000321000|RCV000380344|RCV002520747; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900116780402567804025NC_000011.9:g.67804025G>AClinGen:CA6146577C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.*26T>G4728NDUFS8Uncertain significance886048592RCV000291771|RCV000381321; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116780408667804086NC_000011.9:g.67804086T>GClinGen:CA10631394C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.*44C>T4728NDUFS8Uncertain significance201815115RCV000293152|RCV000352578; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116780410467804104NC_000011.9:g.67804104C>TClinGen:CA6146595C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.*14C>T-1NDUFS8;TCIRG1Benign/Likely benign1051806RCV000285968|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:C116780407467804074NC_000011.9:g.67804074C>TClinGen:CA6146588C0023264 256000 Leigh syndrome;
NM_002496.4(NDUFS8):c.*40A>G-1NDUFS8;TCIRG1Conflicting interpretations of pathogenicity61329983RCV000346629|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:C116780410067804100NC_000011.9:g.67804100A>GClinGen:CA6146593C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)4723NDUFV1Pathogenic/Likely pathogenic150966634RCV000482108|RCV001004858|RCV001662464; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:61822511673794436737944311:g.67379443C>TClinGen:CA6143413CN517202 not provided;
NM_007103.4(NDUFV1):c.1162+4A>C4723NDUFV1Pathogenic/Likely pathogenic199683937RCV000015104|RCV000414504|RCV000763270|RCV001778956; NMONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673794536737945311:g.67379453A>CClinGen:CA6143415,OMIM:161015.0005CN517202 not provided;
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)4723NDUFV1Pathogenic/Likely pathogenic121913659RCV000015100|RCV000200093|RCV000735412|RCV000763271|RCV002468969; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673796966737969611:g.67379696C>TClinGen:CA123735,UniProtKB:P49821#VAR_008847,OMIM:161015.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_007103.4(NDUFV1):c.380A>G (p.Asp127Gly)4723NDUFV1Likely pathogenic1290684221RCV001806398; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011673769766737697667376976-
NM_007103.3(NDUFV1):c.-159G>T4723NDUFV1Uncertain significance1387676031RCV001108143|RCV001108142; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673743176737431711:g.67374317G>T-
NM_007103.3(NDUFV1):c.-111T>C4723NDUFV1Uncertain significance563140258RCV000270772|RCV000363161; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737436567374365NC_000011.9:g.67374365T>CClinGen:CA10631380C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-74T>C4723NDUFV1Conflicting interpretations of pathogenicity373383800RCV001102922|RCV001102923|RCV001568735; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011673744026737440211:g.67374402T>C-
NM_007103.4(NDUFV1):c.-66G>A4723NDUFV1Benign73490568RCV000332823|RCV000389913|RCV001612968; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900116737441067374410NC_000011.9:g.67374410G>AClinGen:CA10639223C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.-61A>G4723NDUFV1Uncertain significance947406124RCV001102924|RCV001102925; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673744156737441511:g.67374415A>G-
NM_007103.4(NDUFV1):c.-45T>G4723NDUFV1Conflicting interpretations of pathogenicity373940385RCV000196176|RCV000274501|RCV000331800; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673744316737443111:g.67374431T>GClinGen:CA320601C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.-34T>A4723NDUFV1Uncertain significance886048586RCV000281628|RCV000374785; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737444267374442NC_000011.9:g.67374442T>AClinGen:CA10635497C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.72+15G>T4723NDUFV1Conflicting interpretations of pathogenicity187400726RCV000127169|RCV000315626|RCV000372683|RCV002055710; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900116737456267374562NC_000011.9:g.67374562G>TClinGen:CA292522C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu)4723NDUFV1Uncertain significance201727252RCV001104844|RCV001104845|RCV002556072; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720211673758956737589511:g.67375895C>T-
NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln)4723NDUFV1Conflicting interpretations of pathogenicity141502688RCV000624727|RCV001333607|RCV001860446; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737591367375913NC_000011.9:g.67375913G>AClinGen:CA6143081C0950123 Inborn genetic diseases;
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)4723NDUFV1Conflicting interpretations of pathogenicity11540012RCV000199787|RCV000285221|RCV000342561|RCV000676963; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011673759446737594411:g.67375944C>TClinGen:CA324342C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.155+12C>T4723NDUFV1Conflicting interpretations of pathogenicity199963966RCV000444487|RCV001105992|RCV001105991|RCV002062380; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190011673759616737596111:g.67375961C>TClinGen:CA6143092CN169374 not specified;
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)4723NDUFV1Conflicting interpretations of pathogenicity201727685RCV000413903|RCV000853290|RCV001331690|RCV003133247|RCV003418095; NMedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|11673760336737603311:g.67376033T>CClinGen:CA6143106CN517202 not provided;
NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr)4723NDUFV1Uncertain significance201727685RCV001331689|RCV002546502; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211673760336737603367376033-
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)4723NDUFV1Conflicting interpretations of pathogenicity199543483RCV000284822|RCV000424374|RCV000393780|RCV000939143; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900116737607267376072NC_000011.9:g.67376072C>TClinGen:CA6143111C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu)4723NDUFV1Uncertain significance886048587RCV000346779|RCV000393779; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010116737608567376085NC_000011.9:g.67376085C>TClinGen:CA10631381C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.326+12G>A4723NDUFV1Conflicting interpretations of pathogenicity184136353RCV000307097|RCV000363981|RCV002056232; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900116737620567376205NC_000011.9:g.67376205G>AClinGen:CA6143135C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn)4723NDUFV1Uncertain significance886048588RCV000315055|RCV000390796; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737692967376929NC_000011.9:g.67376929G>TClinGen:CA10639908C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.343G>A (p.Val115Met)4723NDUFV1Uncertain significance751551838RCV001333611|RCV001859314; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211673769396737693967376939-
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)4723NDUFV1Conflicting interpretations of pathogenicity140445386RCV000275192|RCV000367341|RCV000444047|RCV000880288; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:C3661900116737696267376962NC_000011.9:g.67376962G>AClinGen:CA6143155C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.432G>T (p.Val144=)4723NDUFV1Conflicting interpretations of pathogenicity144087607RCV000925053|RCV001108218|RCV001108219; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011673770286737702811:g.67377028G>T-
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr)4723NDUFV1Uncertain significance143216424RCV001108220|RCV001108221; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673770426737704211:g.67377042T>C-
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys)4723NDUFV1Uncertain significance151144350RCV000518994|RCV000765007|RCV002252155; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|11673770506737705011:g.67377050C>TClinGen:CA6143178CN169374 not specified;
NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala)4723NDUFV1Uncertain significance773368756RCV001333612|RCV003147619|RCV002546640; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MedGen:CN51720211673770956737709567377095-
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys)4723NDUFV1Uncertain significance551603121RCV000260749|RCV000322932; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737787167377871NC_000011.9:g.67377871A>GClinGen:CA6143207C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=)4723NDUFV1Benign10896187RCV000127166|RCV000283254|RCV000379810|RCV000676965; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900116737789067377890NC_000011.9:g.67377890C>GClinGen:CA292517C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)4723NDUFV1Conflicting interpretations of pathogenicity142982022RCV000321979|RCV000383441|RCV000523777; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900116737790467377904NC_000011.9:g.67377904G>AClinGen:CA6143212C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=)4723NDUFV1Conflicting interpretations of pathogenicity151104852RCV000898339|RCV001103034|RCV001103033; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673779386737793811:g.67377938C>T-
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=)4723NDUFV1Uncertain significance886048589RCV000291492|RCV000343621; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506116737794767377947NC_000011.9:g.67377947G>AClinGen:CA10631385C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.700+12C>T4723NDUFV1Conflicting interpretations of pathogenicity200417926RCV000196215|RCV001104932|RCV001104931|RCV002517246; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190011673780536737805311:g.67378053C>TClinGen:CA320641CN169374 not specified;
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)4723NDUFV1Conflicting interpretations of pathogenicity755312472RCV000988584|RCV001104933|RCV001869354; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211673785316737853111:g.67378531C>T-
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys)4723NDUFV1Uncertain significance141400889RCV000195680|RCV000294572|RCV000390228|RCV002517247; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C095012311673785656737856511:g.67378565G>AClinGen:CA320044C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=)4723NDUFV1Conflicting interpretations of pathogenicity150859374RCV000351838|RCV000392952|RCV000885478; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900116737858467378584NC_000011.9:g.67378584C>TClinGen:CA6143291C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=)4723NDUFV1Conflicting interpretations of pathogenicity139299777RCV000917470|RCV001106100|RCV001106099; NMedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673785966737859611:g.67378596C>TClinGen:CA6143295CN169374 not specified;
NM_007103.4(NDUFV1):c.843T>C (p.His281=)4723NDUFV1Conflicting interpretations of pathogenicity766555879RCV000312468|RCV000355545|RCV000907358; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202116737860867378608NC_000011.9:g.67378608T>CClinGen:CA6143296C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys)4723NDUFV1Uncertain significance1017020344RCV001333613; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011673786366737863667378636-
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu)4723NDUFV1Uncertain significance573896386RCV000297655|RCV000392931|RCV002469124|RCV003243064; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MeSH:D030342,MedGen:C095012311673786696737866911:g.67378669A>GClinGen:CA6143303C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val)4723NDUFV1Uncertain significance1432435322RCV001108322|RCV001108321; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673788896737888911:g.67378889G>T-
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=)4723NDUFV1Uncertain significance371426372RCV000267146|RCV000354895; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011673789776737897711:g.67378977C>TClinGen:CA6143362C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=)4723NDUFV1Benign11227859RCV000127167|RCV000305888|RCV000358134|RCV000676966; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011673790166737901611:g.67379016T>CClinGen:CA292519C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)4723NDUFV1Conflicting interpretations of pathogenicity142499054RCV000265767|RCV000327949|RCV000761787; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011673790356737903511:g.67379035C>TClinGen:CA6143373C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu)4723NDUFV1Uncertain significance372208500RCV000269669|RCV000384838|RCV001815309|RCV002520742; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MeSH:D030342,MedGen:C095012311673790396737903911:g.67379039C>TClinGen:CA6143375C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr)4723NDUFV1Uncertain significance376958800RCV000195640|RCV000327027|RCV000388550; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011673793896737938911:g.67379389G>AClinGen:CA320007C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met)4723NDUFV1Uncertain significance774750411RCV001337051|RCV002547363; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C095012311673796266737962667379626-
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)4723NDUFV1Uncertain significance145602077RCV001291734|RCV001333608|RCV001587322; NMONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190011673796416737964167379641-
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu)4723NDUFV1Uncertain significance753686111RCV001103126|RCV001103127; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673796456737964511:g.67379645C>T-
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)4723NDUFV1Uncertain significance1854932368RCV001103128|RCV001103129; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673796616737966111:g.67379661C>T-
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)4723NDUFV1Conflicting interpretations of pathogenicity147719815RCV000426011|RCV001105039|RCV001105040; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011673796976737969711:g.67379697G>AClinGen:CA6143466CN169374 not specified;
NM_007103.4(NDUFV1):c.1308+7A>T4723NDUFV1Conflicting interpretations of pathogenicity767679135RCV001105041|RCV001105042|RCV002558047; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720211673797436737974311:g.67379743A>T-
NM_007103.4(NDUFV1):c.1309-9C>T4723NDUFV1Conflicting interpretations of pathogenicity374581520RCV000281538|RCV000387593|RCV000930807; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720211673798346737983411:g.67379834C>TClinGen:CA6143498C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp)4723NDUFV1Uncertain significance778206888RCV001333609|RCV002546639|RCV001865787; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123|MedGen:CN51720211673798616737986167379861-
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His)4723NDUFV1Uncertain significance768582587RCV000338882|RCV000391889|RCV002520744|RCV002520745; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C0950123|MedGen:CN51720211673798876737988711:g.67379887G>TClinGen:CA6143512C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln)4723NDUFV1Uncertain significance368184231RCV001106191|RCV001106192; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611673798896737988911:g.67379889G>A-
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)4723NDUFV1Uncertain significance372047256RCV000303945|RCV000342474|RCV001196497|RCV001333610|RCV001859819|RCV003165831; 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:CN517202|MeSH:D030342,MedGen:C095012311673799126737991211:g.67379912C>TClinGen:CA6143522C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.*14C>T4723NDUFV1Uncertain significance886048590RCV000304897|RCV000391895; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011673799436737994311:g.67379943C>TClinGen:CA10635501C0023264 256000 Leigh syndrome;
NM_007103.4(NDUFV1):c.*79C>T4723NDUFV1Benign/Likely benign76839099RCV000269563|RCV000364194; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011673800086738000811:g.67380008C>TClinGen:CA10635505C0023264 256000 Leigh syndrome;
NM_021074.5(NDUFV2):c.-39G>T4729NDUFV2Uncertain significance748188888RCV000306336; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891027039102703NC_000018.9:g.9102703G>TClinGen:CA10652161C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.-30G>T4729NDUFV2Conflicting interpretations of pathogenicity139650842RCV000370310|RCV001672548; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001891027129102712NC_000018.9:g.9102712G>TClinGen:CA8887006C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.-13A>G4729NDUFV2Conflicting interpretations of pathogenicity369562850RCV001123060|RCV001720062; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900189102729910272918:g.9102729A>GClinGen:CA8887009CN169374 not specified;
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=)4729NDUFV2Conflicting interpretations of pathogenicity547252886RCV001123061|RCV002070012; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900189102747910274718:g.9102747C>T-
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly)4729NDUFV2Conflicting interpretations of pathogenicity559485096RCV000401738|RCV001329208|RCV001545608; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229|MedGen:C36619001891027589102758NC_000018.9:g.9102758C>GClinGen:CA8887025C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu)4729NDUFV2Uncertain significance1035730836RCV001329833; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201018910277091027709102770-
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)4729NDUFV2Benign906807RCV000009621|RCV000117718|RCV000312272|RCV000676827|RCV001000212; NMONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229189117867911786718:g.9117867T>CClinGen:CA254625,UniProtKB:P19404#VAR_016167,OMIM:600532.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.120+1G>C4729NDUFV2Uncertain significance749991624RCV000779248; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891179029117902NC_000018.9:g.9117902G>C-
NM_021074.5(NDUFV2):c.201A>T (p.Val67=)4729NDUFV2Benign41274300RCV000117717|RCV000366995|RCV000676828|RCV000999964; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229189119489911948918:g.9119489A>TClinGen:CA153877C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.301-10A>G4729NDUFV2Uncertain significance756241126RCV000262462; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891225019122501NC_000018.9:g.9122501A>GClinGen:CA8887183C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr)4729NDUFV2Uncertain significance886054124RCV000319919; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891226259122625NC_000018.9:g.9122625C>AClinGen:CA10648120C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter)4729NDUFV2Uncertain significance771236417RCV000779249; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101891226449122645NC_000018.9:g.9122645dup-
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu)4729NDUFV2Uncertain significance2077948602RCV001124129; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010189122652912265218:g.9122652A>C-
NM_021074.5(NDUFV2):c.469+12A>G4729NDUFV2Conflicting interpretations of pathogenicity538112556RCV001124130|RCV002556688; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900189122691912269118:g.9122691A>G-
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=)4729NDUFV2Conflicting interpretations of pathogenicity201074358RCV000353703|RCV000614024|RCV000903810; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN5172021891249129124912NC_000018.9:g.9124912T>CClinGen:CA8887240C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=)4729NDUFV2Conflicting interpretations of pathogenicity143576401RCV000261114|RCV000911516; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001891249489124948NC_000018.9:g.9124948C>TClinGen:CA8887245C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.580-12T>A4729NDUFV2Benign/Likely benign114558512RCV000127173|RCV000323330|RCV001516535; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619001891268179126817NC_000018.9:g.9126817T>AClinGen:CA292526C1838979 252010 Mitochondrial complex I deficiency;
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=)4729NDUFV2Uncertain significance1372175274RCV001126798; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010189134205913420518:g.9134205G>A-
NM_021074.5(NDUFV2):c.*51A>C4729NDUFV2Uncertain significance1188007874RCV001126799; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010189134328913432818:g.9134328A>C-
NM_021074.5(NDUFV2):c.*57C>T4729NDUFV2Uncertain significance977177603RCV001126800; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010189134334913433418:g.9134334C>T-
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr)80224NUBPLLikely pathogenic567437692RCV000610885|RCV003338688|RCV003338689; NMONDO:MONDO:0016387,MedGen:C5679825, Orphanet:223713|MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014320306473203064714:g.32030647T>CClinGen:CA501120CN924906 Mitochondrial oxidative phosphorylation disorder;
NM_025152.3(NUBPL):c.-25A>G80224NUBPLUncertain significance749942385RCV000342502; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203062132030621NC_000014.8:g.32030621A>GClinGen:CA7147676C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.-13A>G80224NUBPLConflicting interpretations of pathogenicity754769393RCV000378355|RCV001705469; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143203063332030633NC_000014.8:g.32030633A>GClinGen:CA7147680C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.-7C>T80224NUBPLConflicting interpretations of pathogenicity201073307RCV000279303|RCV000444428; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374143203063932030639NC_000014.8:g.32030639C>TClinGen:CA7147683C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.-1C>T80224NUBPLConflicting interpretations of pathogenicity45468395RCV000127267|RCV000335330|RCV000676600; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190014320306453203064514:g.32030645C>TClinGen:CA292627C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg)80224NUBPLUncertain significance765747555RCV001110083|RCV002556155; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720214320306493203064914:g.32030649G>C-
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe)80224NUBPLUncertain significance751219189RCV001110084; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014320306703203067014:g.32030670C>T-
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp)80224NUBPLUncertain significance886050447RCV000395507; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203069132030691NC_000014.8:g.32030691C>TClinGen:CA10644080C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu)80224NUBPLConflicting interpretations of pathogenicity556060060RCV001110085|RCV001823182; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190014320307163203071614:g.32030716C>T-
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val)80224NUBPLConflicting interpretations of pathogenicity77539990RCV000300305|RCV000375839|RCV000676601; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:C366190014320307223203072214:g.32030722G>TClinGen:CA7147707C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.90G>A (p.Ala30=)80224NUBPLUncertain significance773747183RCV001110846; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014320307353203073514:g.32030735G>A-
NM_025152.3(NUBPL):c.109-11A>T80224NUBPLUncertain significance886050448RCV000350566; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203126332031263NC_000014.8:g.32031263A>TClinGen:CA10640076C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.162C>T (p.Ser54=)80224NUBPLConflicting interpretations of pathogenicity34570972RCV000197028|RCV000395434|RCV000893957; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900143203132732031327NC_000014.8:g.32031327C>TClinGen:CA321462C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu)80224NUBPLUncertain significance771326763RCV000315529; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203136432031364NC_000014.8:g.32031364A>GClinGen:CA7147743C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.256+14T>C80224NUBPLConflicting interpretations of pathogenicity377077969RCV000200815|RCV001110847|RCV002054335; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900143203143532031435NC_000014.8:g.32031435T>CClinGen:CA325398CN169374 not specified;
NM_025152.3(NUBPL):c.285C>T (p.Asn95=)80224NUBPLConflicting interpretations of pathogenicity373232503RCV000370184|RCV000910512; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900143203424832034248NC_000014.8:g.32034248C>TClinGen:CA7147771C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn)80224NUBPLUncertain significance886050449RCV000270914; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143203424932034249NC_000014.8:g.32034249G>AClinGen:CA10640079C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val)80224NUBPLUncertain significance2033400591RCV001110848; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014320342503203425014:g.32034250A>T-
NM_025152.3(NUBPL):c.369G>A (p.Pro123=)80224NUBPLConflicting interpretations of pathogenicity755482148RCV000306925|RCV002522302; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143206857232068572NC_000014.8:g.32068572G>AClinGen:CA7147817C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn)80224NUBPLUncertain significance143612760RCV000366282|RCV001850654; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900143214256132142561NC_000014.8:g.32142561G>AClinGen:CA7147853C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.384C>T (p.Ser128=)80224NUBPLUncertain significance886050450RCV000271714; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143214256232142562NC_000014.8:g.32142562C>TClinGen:CA10644086C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp)80224NUBPLUncertain significance201412882RCV001112837|RCV001853185|RCV002252052|RCV002517249; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202||MeSH:D030342,MedGen:C095012314321425913214259114:g.32142591G>A-
NM_025152.3(NUBPL):c.422+8T>C80224NUBPLConflicting interpretations of pathogenicity868061310RCV000422901|RCV001112838|RCV001428445; NMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN51720214321426083214260814:g.32142608T>CClinGen:CA16606986CN169374 not specified;
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu)80224NUBPLUncertain significance781341998RCV000322099|RCV001853186; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202143214275532142755NC_000014.8:g.32142755C>TClinGen:CA319756C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)80224NUBPLConflicting interpretations of pathogenicity61752327RCV000358282|RCV000432198|RCV001094169; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014322570173225701714:g.32257017T>CClinGen:CA321423C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.573G>A (p.Val191=)80224NUBPLUncertain significance886050451RCV000268262; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143225704532257045NC_000014.8:g.32257045G>AClinGen:CA10644088C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr)80224NUBPLConflicting interpretations of pathogenicity11558436RCV000423853|RCV000662087|RCV001114184|RCV001267134; NMedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123143225706532257065NC_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 significance543089711RCV000323385; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143225707532257075NC_000014.8:g.32257075A>CClinGen:CA7147907C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.639C>T (p.Ile213=)80224NUBPLConflicting interpretations of pathogenicity35330765RCV000373408|RCV000908212; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900143229586632295866NC_000014.8:g.32295866C>TClinGen:CA7147936C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.677G>A (p.Arg226His)80224NUBPLUncertain significance79498789RCV000281828; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143229590432295904NC_000014.8:g.32295904G>AClinGen:CA7147944C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr)80224NUBPLConflicting interpretations of pathogenicity35867418RCV000318148|RCV000963310; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190014322959123229591214:g.32295912C>TClinGen:CA320820C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.777A>G (p.Ala259=)80224NUBPLUncertain significance368513010RCV001114185; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323157603231576014:g.32315760A>G-
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu)80224NUBPLUncertain significance770850110RCV000386623; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143231940432319404NC_000014.8:g.32319404T>AClinGen:CA7148005C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*26C>G80224NUBPLLikely benign76130953RCV001114186|RCV001585986; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190014323284123232841214:g.32328412C>G-
NM_025152.3(NUBPL):c.*72T>C80224NUBPLUncertain significance975175643RCV001110155; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323284583232845814:g.32328458T>C-
NM_025152.3(NUBPL):c.*122G>C80224NUBPLBenign4981131RCV000292306|RCV001642971; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190014323285083232850814:g.32328508G>CClinGen:CA10645192C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*135T>G80224NUBPLUncertain significance377738028RCV000351828; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323285213232852114:g.32328521T>GClinGen:CA10634779C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*188T>C80224NUBPLUncertain significance569141248RCV000403347; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323285743232857414:g.32328574T>CClinGen:CA10645196C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*237G>T80224NUBPLUncertain significance1566603021RCV001110156; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323286233232862314:g.32328623G>T-
NM_025152.3(NUBPL):c.*273C>T80224NUBPLBenign76188062RCV000288716|RCV001711929; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190014323286593232865914:g.32328659C>TClinGen:CA10645197C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*301G>T80224NUBPLUncertain significance189475622RCV001110157; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323286873232868714:g.32328687G>T-
NM_025152.3(NUBPL):c.*312G>A80224NUBPLBenign10162516RCV000343669; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323286983232869814:g.32328698G>AClinGen:CA10645198C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*323G>T80224NUBPLUncertain significance2040678852RCV001110916; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323287093232870914:g.32328709G>T-
NM_025152.3(NUBPL):c.*344T>C80224NUBPLUncertain significance572496732RCV001110917; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323287303232873014:g.32328730T>C-
NM_025152.3(NUBPL):c.*355T>C80224NUBPLUncertain significance886050452RCV000394819; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323287413232874114:g.32328741T>CClinGen:CA10644089C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*357C>G80224NUBPLUncertain significance576520205RCV000309061; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323287433232874314:g.32328743C>GClinGen:CA10644096C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*444C>T80224NUBPLBenign10162515RCV000359195; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323288303232883014:g.32328830C>TClinGen:CA10640080C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*527G>A80224NUBPLUncertain significance560274677RCV000394816; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323289133232891314:g.32328913G>AClinGen:CA10644097C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*561G>A80224NUBPLUncertain significance189555353RCV000360332; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323289473232894714:g.32328947G>AClinGen:CA10640082C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*638C>G80224NUBPLUncertain significance886050454RCV000260827; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323290243232902414:g.32329024C>GClinGen:CA10634780C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*736C>G80224NUBPLConflicting interpretations of pathogenicity111321293RCV001112909|RCV002264189; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C366190014323291223232912214:g.32329122C>G-
NM_025152.3(NUBPL):c.*742C>G80224NUBPLUncertain significance760265792RCV001112910; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323291283232912814:g.32329128C>G-
NM_025152.3(NUBPL):c.*806A>G80224NUBPLUncertain significance139044047RCV001112911; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323291923232919214:g.32329192A>G-
NM_025152.3(NUBPL):c.*817T>A80224NUBPLUncertain significance2040686751RCV001112912; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323292033232920314:g.32329203T>A-
NM_025152.3(NUBPL):c.*836C>G80224NUBPLBenign10147479RCV000316109; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323292223232922214:g.32329222C>GClinGen:CA10645203C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*850C>T80224NUBPLUncertain significance370650416RCV001112913; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323292363232923614:g.32329236C>T-
NM_025152.3(NUBPL):c.*864C>T80224NUBPLUncertain significance996734164RCV001112914; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323292503232925014:g.32329250C>T-
NM_025152.3(NUBPL):c.*905A>C80224NUBPLUncertain significance750277296RCV000357065; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323292913232929114:g.32329291A>CClinGen:CA10640083C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*995T>C80224NUBPLBenign10136892RCV000262171; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323293813232938114:g.32329381T>CClinGen:CA10640084C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1015C>A80224NUBPLUncertain significance551958784RCV000331454; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323294013232940114:g.32329401C>AClinGen:CA10645204C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1047C>T80224NUBPLUncertain significance913575962RCV001114271; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323294333232943314:g.32329433C>T-
NM_025152.3(NUBPL):c.*1048G>A80224NUBPLUncertain significance886050455RCV000385936; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323294343232943414:g.32329434G>AClinGen:CA10645205C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1151G>A80224NUBPLUncertain significance550119169RCV000275426; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232953732329537NC_000014.8:g.32329537G>AClinGen:CA10634786C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1260T>C80224NUBPLUncertain significance551289319RCV000314112; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232964632329646NC_000014.8:g.32329646T>CClinGen:CA10640097C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1370C>T80224NUBPLUncertain significance1031134034RCV001114272; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323297563232975614:g.32329756C>T-
NM_025152.3(NUBPL):c.*1451C>T80224NUBPLLikely benign28533800RCV000371407; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232983732329837NC_000014.8:g.32329837C>TClinGen:CA10645213C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1554A>G80224NUBPLUncertain significance967796383RCV001110248; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323299403232994014:g.32329940A>G-
NM_025152.3(NUBPL):c.*1594T>G80224NUBPLUncertain significance2040700976RCV001110249; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323299803232998014:g.32329980T>G-
NM_025152.3(NUBPL):c.*1609G>A80224NUBPLUncertain significance142179743RCV000269805; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143232999532329995NC_000014.8:g.32329995G>AClinGen:CA10645224C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1619C>T80224NUBPLUncertain significance886050468RCV000327098; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233000532330005NC_000014.8:g.32330005C>TClinGen:CA10640099C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1621C>T80224NUBPLUncertain significance1315512923RCV001110250; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323300073233000714:g.32330007C>T-
NM_025152.3(NUBPL):c.*1655A>G80224NUBPLUncertain significance1407466515RCV001110251; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323300413233004114:g.32330041A>G-
NM_025152.3(NUBPL):c.*1685A>G80224NUBPLBenign1129622RCV000384047; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233007132330071NC_000014.8:g.32330071A>GClinGen:CA10645239C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1694G>A80224NUBPLBenign1129623RCV000272821; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233008032330080NC_000014.8:g.32330080G>AClinGen:CA10634788C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1768G>A80224NUBPLUncertain significance2040704041RCV001111000; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323301543233015414:g.32330154G>A-
NM_025152.3(NUBPL):c.*1773A>G80224NUBPLUncertain significance886050469RCV000320854; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233015932330159NC_000014.8:g.32330159A>GClinGen:CA10645243C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1776G>A80224NUBPLUncertain significance886050470RCV000377899; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233016232330162NC_000014.8:g.32330162G>AClinGen:CA10634790C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1840A>G80224NUBPLUncertain significance886050471RCV000285846; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233022632330226NC_000014.8:g.32330226A>GClinGen:CA10640102C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1874A>G80224NUBPLBenign10348RCV000343121; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233026032330260NC_000014.8:g.32330260A>GClinGen:CA10640103C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1888G>A80224NUBPLBenign7148746RCV000372210; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233027432330274NC_000014.8:g.32330274G>AClinGen:CA10640104C1838979 252010 Mitochondrial complex I deficiency;
NM_025152.3(NUBPL):c.*1940A>C80224NUBPLUncertain significance149945695RCV001111001; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323303263233032614:g.32330326A>C-
NM_025152.3(NUBPL):c.*1963C>A80224NUBPLUncertain significance1164142579RCV001112997; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201014323303493233034914:g.32330349C>A-
NM_025152.3(NUBPL):c.*2036A>C80224NUBPLUncertain significance886050472RCV000280137; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010143233042232330422NC_000014.8:g.32330422A>CClinGen:CA10640105C1838979 252010 Mitochondrial complex I deficiency;
NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs)51300TIMMDC1Likely pathogenic-1RCV003219141; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520103119217770119217771-
NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp)51300TIMMDC1Uncertain significance774619141RCV001336356; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520103119217755119217755119217755-
NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr)51300TIMMDC1Uncertain significance368184254RCV001332147|RCV002546536|RCV002546537; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123|MedGen:C36619003119232548119232548119232548-
NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln)51300TIMMDC1Uncertain significance761981569RCV001336357|RCV003120562; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C36619003119236129119236129119236129-
NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu)51300TIMMDC1Conflicting interpretations of pathogenicity779953541RCV001336358|RCV003263972; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C09501233119242490119242490119242490-
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs)55863TMEM126BPathogenic/Likely pathogenic752316853RCV001335007|RCV001780257|RCV001865819; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250|MedGen:CN51720211853452448534524585345243-
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val)55863TMEM126BUncertain significance181963507RCV001335913|RCV001729850|RCV002546751; NMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MeSH:D030342,MedGen:C095012311853471698534716985347169-
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 EnsemblNDUFAF41161NADH 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 EnsemblNDUFB3110NADH 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 EnsemblNDUFS41248NADH 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 EnsemblNUBPL1383nucleotide binding protein-like [Source:HGNC Symbol;Acc:20278]00011
ENSG00000113845 MSeqDR Search EnsemblTIMMDC1105translocase 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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