MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
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Hepatic Encephalopathy (D006501)
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Metabolism, Inborn Errors (D008661)
..Starting node
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Combined Oxidative Phosphorylation Deficiency 1 (C563797)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expand3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)  LSDB  L: 00467;
..expand3-Methylglutaconic Aciduria (C579867)
..expand3-Methylglutaconic Aciduria Type IV (C565393)
..expand3-Methylglutaconic Aciduria, Type I (C562801)  LSDB  L: 00495;
..expand3-Methylglutaconic Aciduria, Type V (C565706)  LSDB  L: 00079;
..expand5-Nucleotidase syndrome (C535321)
..expand6-Phosphogluconolactonase Deficiency (C566803)
..expandAcetylcarnitine deficiency (C536006)
..expandAcholinesterasemia (C566750)
..expandAcid Phosphatase Deficiency (C562645)
..expandAdenine phosphoribosyltransferase deficiency (C538228)
..expandalpha-Fetoprotein Deficiency (C566300)
..expandAmino Acid Metabolism, Inborn Errors (D000592) Child169  LSDB C:10
..expandAmino Acid Transport Disorders, Inborn (D020157) Child3
..expandAmobarbital, Deficient N-Hydroxylation of (C565959)
..expandAmyloidosis, Familial (D028226) Child13
..expandArene Oxide Detoxification Defect (C565043)
..expandAromatase deficiency (C537436)
..expandAryl Hydrocarbon Hydroxylase Inducibility (C566250)
..expandBISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..expandBrain Diseases, Metabolic, Inborn (D020739) Child218  LSDB C:20
..expandButyrylcholinesterase deficiency (C537417)
..expandButyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..expandCarbohydrate Metabolism, Inborn Errors (D002239) Child169  LSDB C:9
..expandCARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCarnitine palmitoyl transferase 2 deficiency (C535589)
..expandChromate Resistance (C566125)
..expandCombined Malonic and Methylmalonic Aciduria (C580002)
..expandCombined Oxidative Phosphorylation Deficiency 1 (C563797)  LSDB  L: 00092;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)  LSDB  L: 00093;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)  LSDB  L: 00423;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)  LSDB  L: 00511;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)  LSDB  L: 00512;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)  LSDB  L: 00094;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)  LSDB  L: 00095;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)  LSDB  L: 00080;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)  LSDB  L: 00513;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)  LSDB  L: 00514;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)  LSDB  L: 00500;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)  LSDB  L: 00515;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)  LSDB  L: 00501;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)  LSDB  L: 00502;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)  LSDB  L: 00516;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)  LSDB  L: 00517;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)  LSDB  L: 00503;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)  LSDB  L: 00518;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 (OMIM:616672)  LSDB  L: 00519;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)  LSDB  L: 00520;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)  LSDB  L: 00504;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)  LSDB  L: 00521;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)  LSDB  L: 00522;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)  LSDB  L: 00076;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)  LSDB  L: 00100;
..expandCongenital chloride diarrhea (C536210)
..expandCopper deficiency, familial benign (C535468)
..expandCosteff optic atrophy syndrome (C535311)  LSDB  L: 00496;
..expandCoumarin Resistance (C563039)
..expandCoumarin Sensitivity (C567276)
..expandCREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeafness hyperuricemia neurologic ataxia (C535995)
..expandDeoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..expandDiarrhea 3, Secretory Sodium, Congenital (C562576)
..expandDiarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..expandDiarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..expandDihydropyrimidinase Deficiency (C562815)
..expandDiphenylhydantoin, Defect in Hydroxylation of (C565044)
..expandDrug Metabolism, Poor, CYP2C19-Related (C563703)
..expandDrug Metabolism, Poor, CYP2D6-Related (C563835)  LSDB  L: 00651;
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEFAVIRENZ, POOR METABOLISM OF (OMIM:614546)
..expandEnterokinase Deficiency (C562649)
..expandEthanolaminosis (C562651)
..expandFamilial gynecomastia, due to increased aromatase activity (C000591739)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFumaric aciduria (C538191)
..expandGlucocorticoid Receptor Deficiency (C564221)
..expandGlutamate formiminotransferase deficiency (C537425)
..expandGlycoprotein Storage Disease (C565538)
..expandGlyoxalase II Deficiency (C564215)
..expandGrowth Factors, Combined Defect of (C565529)
..expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandHyperbilirubinemia, Hereditary (D006933) Child7
..expandHypercalcemia, Idiopathic, of Infancy (C562581)
..expandHYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..expandHypoadiponectinemia (C567258)
..expandHypokalemia, Familial (C562654)
..expandHypoproteinemia, Hypercatabolic (C565476)
..expandInosine Triphosphatase Deficiency (C564127)
..expandIntrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..expandKallikrein, Decreased Urinary Activity of (C563653)
..expandL-Gulonolactone Oxidase, Nonfunctional (C565486)
..expandLactate Dehydrogenase B Deficiency (C563641)
..expandLactic Aciduria due to D-Lactic Acid (C565446)
..expandLEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
..expandLEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
..expandLeukotriene C4 Synthase Deficiency (C565439)
..expandLipid Metabolism, Inborn Errors (D008052) Child135  LSDB C:9
..expandLIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..expandLONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)  LSDB  L: 00474;
..expandLysosomal Storage Diseases (D016464) Child106
..expandMalonic aciduria (C535702)
..expandMannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..expandMannose-Binding Protein Deficiency (C563602)
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMetal Metabolism, Inborn Errors (D008664) Child55
..expandMethemoglobin Reductase Deficiency (C563171)
..expandMethylcobalamin Deficiency, CblG Type (C565394)
..expandMethylmalonyl-Coenzyme A mutase deficiency (C537573)
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..expandMONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
..expandMyeloperoxidase Deficiency (C562864)
..expandN acetyltransferase deficiency (C536107)
..expandPancreatic Insufficiency, Combined Exocrine (C564907)
..expandPeroxisomal Disorders (D018901) Child39
..expandPhenacetin O-Deethylase, Deficiency of (C565127)
..expandPhenol sulfotransferase deficiency (C537895)
..expandPhosphoglycerate Kinase 1 Deficiency (C567067)
..expandProgeria (D011371) Child11
..expandProguanil, Poor Metabolism of (C563704)
..expandPurine-Pyrimidine Metabolism, Inborn Errors (D011686) Child24
..expandRenal Tubular Transport, Inborn Errors (D015499) Child76  LSDB C:2
..expandRetinol-Binding Protein Deficiency (C566711)
..expandSteroid Metabolism, Inborn Errors (D043202) Child34
..expandStomatocytosis I (C566111)
..expandStomatocytosis II (C566110)
..expandSuccinic Acidemia (C563952)
..expandTHIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
..expandTHYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..expandTranscobalamin I Deficiency (C562798)
..expandTrimethylaminuria (C536561)
..expandTRYPSINOGEN DEFICIENCY (OMIM:614044)
..expandWarfarin Sensitivity (C567080)
..expandWeinstein Kliman Scully syndrome (C536688)
..expandWiedemann Oldigs Oppermann syndrome (C536705)
..expandXanthinuria, Type I (C562584)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2766
Name:Combined Oxidative Phosphorylation Deficiency 1
Definition:
Alternative IDs:OMIM:609060
ParentIDs:MESH:D006501|MESH:D008661
TreeNumbers:C06.552.308.500.356/C563797 |C10.228.140.163.360/C563797 |C16.320.565/C563797 |C18.452.132.360/C563797 |C18.452.648/C563797
Synonyms:COXPD1 |Hepatoencephalopathy, Early Fatal Progressive
Slim Mappings:Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C563797
MeSH: C563797
OMIM: 609060;
MSeqDR LSDB: 00092;  
Genes: GFM1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0006799Basal ganglia cysts
4 HP:0001396Cholestasis
5 HP:0012448Delayed myelination
6 HP:0011968Feeding difficulties
7 HP:0004448Fulminant hepatic failure
8 HP:0002283Global brain atrophy
9 HP:0002240Hepatomegaly
10 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11 HP:0002375Hypokinesia
12 HP:0002079Hypoplasia of the corpus callosum
13 HP:0002490Increased CSF lactate
14 HP:0002151Increased serum lactate
15 HP:0001511Intrauterine growth retardation
16 HP:0001942Metabolic acidosis
17 HP:0000252Microcephaly
18 HP:0001270Motor delay
19 HP:0008936Muscular hypotonia of the trunk
20 HP:0000639Nystagmus
21 HP:0000817Poor eye contact
22 HP:0001250Seizures
NAMDC:  Seizures
23 HP:0001257Spasticity
NAMDC:  Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_024996.7(GFM1):c.-85C>T85476GFM1Uncertain significancers893145449RCV001147126; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583623391583623393:g.158362339C>T-
NM_024996.7(GFM1):c.-73C>T85476GFM1Likely benignrs116614958RCV000331237; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158362351158362351NC_000003.11:g.158362351C>TClinGen:CA10617804CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.-66C>G85476GFM1Uncertain significancers564879457RCV001147127; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583623581583623583:g.158362358C>G-
NM_024996.7(GFM1):c.-38C>T85476GFM1Conflicting interpretations of pathogenicityrs377352238RCV000125229|RCV000389427; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583623861583623863:g.158362386C>TClinGen:CA291068CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.-33C>T85476GFM1Benignrs28372852RCV000295077|RCV001672626; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158362391158362391NC_000003.11:g.158362391C>TClinGen:CA2682172CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.-31A>G85476GFM1Benignrs28372853RCV000125230|RCV000336135; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583623931583623933:g.158362393A>GClinGen:CA291069CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.-11C>T85476GFM1Benign/Likely benignrs112860155RCV000125231|RCV000396594; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583624131583624133:g.158362413C>TClinGen:CA291070CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.3G>A (p.Met1Ile)85476GFM1Pathogenicrs863224030RCV000196656|RCV001273487; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158362426158362426NC_000003.11:g.158362426G>AClinGen:CA321080CN517202 not provided;
NM_024996.7(GFM1):c.18T>C (p.Ala6=)85476GFM1Benignrs1864507RCV000282348|RCV000676466|RCV001795958; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MedGen:CN1693743158362441158362441NC_000003.11:g.158362441T>CClinGen:CA2682184CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.54del (p.Ala19fs)85476GFM1Pathogenic/Likely pathogenicrs765266988RCV000826110|RCV002538243; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583624731583624733:g.158362473_158362473del-
NM_024996.7(GFM1):c.51C>T (p.Ala17=)85476GFM1Likely benignrs937454854RCV000932460|RCV001272457; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583624741583624743:g.158362474C>T-
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)85476GFM1Conflicting interpretations of pathogenicityrs567086019RCV000337390|RCV000943185; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158362479158362479NC_000003.11:g.158362479C>TClinGen:CA2682193CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg)85476GFM1Benignrs574200635RCV000195533|RCV000398210|RCV000915754; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158362500158362500NC_000003.11:g.158362500A>GClinGen:CA319884CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.81+1G>A85476GFM1Likely pathogenic-1RCV001378369|RCV001831352; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158362505158362505158362505-
NM_024996.7(GFM1):c.81+5C>T85476GFM1Uncertain significancers886058119RCV000301848; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158362509158362509NC_000003.11:g.158362509C>TClinGen:CA10617811CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.81+22A>G85476GFM1Benign-1RCV001543940|RCV001655851; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158362526158362526158362526-
NM_024996.7(GFM1):c.81+84C>G85476GFM1Benign-1RCV001543941|RCV001713120; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158362588158362588158362588-
NM_024996.7(GFM1):c.89_99del (p.Trp30fs)85476GFM1Pathogenic/Likely pathogenic-1RCV001953530|RCV003146413; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158363425158363435158363424-
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)85476GFM1Pathogenic/Likely pathogenicrs766234016RCV001002683|RCV002549188; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583634361583634363:g.158363436C>T-
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)85476GFM1Benign/Likely benignrs35942089RCV000125223|RCV000361226|RCV000964843; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583634631583634633:g.158363463A>GClinGen:CA291058CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)85476GFM1Pathogenicrs119470019RCV000004378|RCV001207728; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583634751583634753:g.158363475C>TClinGen:CA210485,OMIM:606639.0002C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.192A>G (p.Glu64=)85476GFM1Likely benignrs1576720639RCV000960840|RCV001832207; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583635281583635283:g.158363528A>G-
NM_024996.7(GFM1):c.193C>A (p.Arg65=)85476GFM1Conflicting interpretations of pathogenicityrs62286651RCV000676467|RCV001148014; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583635291583635293:g.158363529C>A-CN517202 not provided;
NM_024996.7(GFM1):c.220G>T (p.Ala74Ser)85476GFM1Likely benignrs140377587RCV000923394|RCV001272458; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583635561583635563:g.158363556G>T-
NM_024996.7(GFM1):c.221C>G (p.Ala74Gly)85476GFM1Uncertain significancers778603797RCV001280043; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583635571583635573:g.158363557C>G-
NM_024996.7(GFM1):c.234+12C>T85476GFM1Conflicting interpretations of pathogenicityrs372189223RCV000398325|RCV002057851; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158363582158363582NC_000003.11:g.158363582C>TClinGen:CA2682258CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.235-14G>A85476GFM1Conflicting interpretations of pathogenicityrs201304690RCV000198372|RCV000307563|RCV002054327; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158363940158363940NC_000003.11:g.158363940G>AClinGen:CA322880CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)85476GFM1Pathogenicrs1576721522RCV001002680; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583639671583639673:g.158363967A>T-
NM_024996.7(GFM1):c.273del (p.Met92fs)85476GFM1Pathogenic/Likely pathogenicrs863224033RCV000200452|RCV002500612; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158363991158363991NC_000003.11:g.158363992delClinGen:CA325026CN517202 not provided;
NM_024996.7(GFM1):c.344A>G (p.Asn115Ser)85476GFM1Conflicting interpretations of pathogenicity-1RCV001563841|RCV002072149|RCV002568428; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MeSH:D030342,MedGen:C09501233158364063158364063158364063-
NM_024996.7(GFM1):c.373G>A (p.Val125Met)85476GFM1Conflicting interpretations of pathogenicityrs200923387RCV000362292|RCV000942298; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158364537158364537NC_000003.11:g.158364537G>AClinGen:CA2682322CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)85476GFM1Likely pathogenicrs1553847587RCV000625929; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158364559158364559NC_000003.11:g.158364559A>CClinGen:CA355175789C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser)85476GFM1Uncertain significancers1721844379RCV001329387; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158364572158364572158364572-
NM_024996.7(GFM1):c.409G>A (p.Val137Met)85476GFM1Pathogenic-1RCV001449659; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158364573158364573158364573-
NM_024996.7(GFM1):c.424del (p.Val142fs)85476GFM1Conflicting interpretations of pathogenicityrs886058120RCV000272222|RCV000814936; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158364588158364588NC_000003.11:g.158364588delClinGen:CA10615638CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.443T>C (p.Val148Ala)85476GFM1Uncertain significancers758591202RCV001280044; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583646071583646073:g.158364607T>C-
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)85476GFM1Benignrs34297061RCV000125225|RCV000224568|RCV000999807; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583646401583646403:g.158364640A>GClinGen:CA291061CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.498C>T (p.Asn166=)85476GFM1Likely benignrs762364300RCV000983429|RCV001836054; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583646621583646623:g.158364662C>T-
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)85476GFM1Likely pathogenicrs119470018RCV000004377|RCV000657878; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583646851583646853:g.158364685A>GClinGen:CA210484,UniProtKB:Q96RP9#VAR_021512,OMIM:606639.0001C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.568A>C (p.Met190Leu)85476GFM1Benign/Likely benignrs75450876RCV000125226|RCV000224632|RCV000368039; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583647321583647323:g.158364732A>CClinGen:CA291063CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.573-1G>C85476GFM1Conflicting interpretations of pathogenicity-1RCV001379654|RCV001831371; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158366829158366829158366829-
NM_024996.7(GFM1):c.596C>T (p.Ala199Val)85476GFM1Uncertain significancers145247687RCV001149555; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583668531583668533:g.158366853C>T-
NM_024996.7(GFM1):c.607A>G (p.Ile203Val)85476GFM1Uncertain significancers1722079229RCV001195913; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583668641583668643:g.158366864A>G-
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys)85476GFM1Uncertain significancers1722080493RCV001280045; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583668731583668733:g.158366873G>T-
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)85476GFM1Conflicting interpretations of pathogenicityrs191462023RCV000198516|RCV000764473; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583668791583668793:g.158366879G>AClinGen:CA323024CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.643G>A (p.Val215Ile)85476GFM1Benignrs2303909RCV000676468|RCV000987347|RCV001795959; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN16937431583669001583669003:g.158366900G>AClinGen:CA2682376,UniProtKB:Q96RP9#VAR_028303CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.667A>G (p.Ile223Val)85476GFM1Conflicting interpretations of pathogenicityrs143446452RCV000918367|RCV001272459; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583669241583669243:g.158366924A>G-
NM_024996.7(GFM1):c.689+891C>T85476GFM1Benign-1RCV001543942|RCV001694070; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158367837158367837158367837-
NM_024996.7(GFM1):c.690-87A>G85476GFM1Benign-1RCV001543943|RCV001647392; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158369798158369798158369798-
NM_024996.7(GFM1):c.690-5C>G85476GFM1Conflicting interpretations of pathogenicityrs201685981RCV000197431|RCV000415998|RCV001001208; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583698801583698803:g.158369880C>GClinGen:CA321899CN517202 not provided;
NM_024996.7(GFM1):c.690_693del85476GFM1Pathogenic/Likely pathogenic-1RCV001932580|RCV002506920; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158369883158369886158369882-
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)85476GFM1Pathogenicrs863224032RCV000198570|RCV000995549; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583698951583698953:g.158369895C>TClinGen:CA323089CN517202 not provided;
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln)85476GFM1Uncertain significancers1202361363RCV001145270; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583698961583698963:g.158369896G>A-
NM_024996.7(GFM1):c.702A>G (p.Arg234=)85476GFM1Uncertain significancers377418512RCV000388686; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158369897158369897NC_000003.11:g.158369897A>GClinGen:CA2682405CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.720del (p.Glu241fs)85476GFM1Pathogenicrs745718158RCV000809691|RCV001273488; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583699151583699153:g.158369915_158369915del-
NM_024996.7(GFM1):c.748del (p.Arg250fs)85476GFM1Likely pathogenic-1RCV001580712; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158369942158369942158369941-
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)85476GFM1Pathogenicrs139430866RCV000800330|RCV000851197|RCV000023564; NMedGen:CN517202|MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583699431583699433:g.158369943C>TClinGen:CA210569,UniProtKB:Q96RP9#VAR_076198,OMIM:606639.0004C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)85476GFM1Benign/Likely benignrs115984741RCV000886511|RCV001272460; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583699831583699833:g.158369983A>G-
NM_024996.7(GFM1):c.825G>A (p.Ser275=)85476GFM1Uncertain significancers1722357550RCV001280046; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583700201583700203:g.158370020G>A-
NM_024996.7(GFM1):c.829dup (p.Ser277fs)85476GFM1Conflicting interpretations of pathogenicityrs771865940RCV000416186|RCV000779394; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158370021158370022NC_000003.11:g.158370024dupClinGen:CA2682429
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)85476GFM1Uncertain significance-1RCV003131016; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158370025158370025NC_000003.11:g.158370025C>T-
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu)85476GFM1Uncertain significancers1722451256RCV001199013; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583711391583711393:g.158371139C>T-
NM_024996.7(GFM1):c.897C>T (p.Ser299=)85476GFM1Conflicting interpretations of pathogenicityrs763546447RCV000280136|RCV001453939; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158371155158371155NC_000003.11:g.158371155C>TClinGen:CA2682451CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)85476GFM1Likely pathogenicrs1722463582RCV001089485; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583712101583712103:g.158371210C>T-
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)85476GFM1Pathogenicrs781397040RCV001002678; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583712161583712163:g.158371216C>GClinVar:812088
NM_024996.7(GFM1):c.960A>C (p.Pro320=)85476GFM1Benign/Likely benignrs145970222RCV000195750|RCV000316489|RCV000910628; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158371218158371218NC_000003.11:g.158371218A>CClinGen:CA320120CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.987C>A (p.Leu329=)85476GFM1Conflicting interpretations of pathogenicityrs531887279RCV000376033|RCV000933080; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158371245158371245NC_000003.11:g.158371245C>AClinGen:CA2682465CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.997_998+2del85476GFM1Likely pathogenicrs763084523RCV001209160|RCV001833837; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583712551583712583:g.158371255_158371258del-
NM_024996.7(GFM1):c.999-1G>A85476GFM1Likely pathogenic-1RCV001377804|RCV001836383; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158372335158372335158372335-
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)85476GFM1Conflicting interpretations of pathogenicityrs373952002RCV000281525|RCV000429176|RCV000952513; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN169374|MedGen:CN5172023158372369158372369NC_000003.11:g.158372369C>TClinGen:CA2682491CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1083+3A>G85476GFM1Conflicting interpretations of pathogenicityrs187690169RCV000341073|RCV001636960|RCV002523249; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MeSH:D030342,MedGen:C095012331583724231583724233:g.158372423A>GClinGen:CA2682500CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1083+6T>G85476GFM1Benignrs142919829RCV000125222|RCV000390538|RCV000676469; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583724261583724263:g.158372426T>GClinGen:CA291057CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1083+8G>T85476GFM1Likely benignrs753905803RCV000944842|RCV001272461; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583724281583724283:g.158372428G>T-
NM_024996.7(GFM1):c.1083+57C>T85476GFM1Benign-1RCV001543944|RCV001638146; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158372477158372477158372477-
NM_024996.7(GFM1):c.1083+82T>C85476GFM1Benign-1RCV001543945|RCV001713121; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158372502158372502158372502-
NM_024996.7(GFM1):c.1102T>C (p.Leu368=)85476GFM1Likely benignrs142843314RCV000891379|RCV001272462; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583767291583767293:g.158376729T>C-
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn)85476GFM1Uncertain significancers1023544297RCV001147219; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583767451583767453:g.158376745G>A-
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)85476GFM1Pathogenicrs1576745248RCV001002681; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583767721583767833:g.158376772_158376783del-
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp)85476GFM1Uncertain significancers183140307RCV001241465|RCV001836211; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583768071583768073:g.158376807C>T-
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys)85476GFM1Uncertain significancers374335959RCV001280047|RCV002542941; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583768251583768253:g.158376825C>T-
NM_024996.7(GFM1):c.1209C>T (p.Ala403=)85476GFM1Benignrs149949638RCV000197193|RCV000946773|RCV001147220; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583768361583768363:g.158376836C>TClinGen:CA321638CN169374 not specified;
NM_024996.7(GFM1):c.1209C>A (p.Ala403_Asp404=)85476GFM1Uncertain significance-1RCV003135362; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158376836158376836NC_000003.11:g.158376836C>A-
NM_024996.7(GFM1):c.1221+20G>A85476GFM1Uncertain significancers1412836196RCV001329385; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158376868158376868158376868-
NM_024996.7(GFM1):c.1256C>T (p.Ala419Val)85476GFM1Uncertain significance-1RCV001558686|RCV001832761|RCV002568379; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MeSH:D030342,MedGen:C09501233158378697158378697158378697-
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)85476GFM1Pathogenicrs866604517RCV001002676|RCV001384808; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583787351583787383:g.158378735_158378738del-
NM_024996.7(GFM1):c.1305C>G (p.Ala435=)85476GFM1Conflicting interpretations of pathogenicityrs141368418RCV000941272|RCV001147221; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583787461583787463:g.158378746C>G-
NM_024996.7(GFM1):c.1308C>T (p.Asn436=)85476GFM1Likely benignrs1187874654RCV000917135|RCV001272463; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583787491583787493:g.158378749C>T-
NM_024996.7(GFM1):c.1323+72A>G85476GFM1Benign-1RCV001543946|RCV001619959; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158378836158378836158378836-
NM_024996.7(GFM1):c.1323+83A>G85476GFM1Benignrs2291595RCV000830746|RCV001543947; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583788471583788473:g.158378847A>G-
NM_024996.7(GFM1):c.1324-15T>A85476GFM1Conflicting interpretations of pathogenicityrs375168014RCV000286924|RCV000424127|RCV002057852; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN169374|MedGen:CN51720231583804021583804023:g.158380402T>AClinGen:CA2682612CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)85476GFM1Pathogenicrs757691557RCV001329386; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158380417158380417158380417-
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly)85476GFM1Likely benignrs146951325RCV000341858|RCV000911472; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583804361583804363:g.158380436A>GClinGen:CA2682618CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1368G>A (p.Lys456=)85476GFM1Likely benignrs774280744RCV000904804|RCV001272464; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583804611583804613:g.158380461G>A-
NM_024996.7(GFM1):c.1383C>T (p.Asn461=)85476GFM1Conflicting interpretations of pathogenicity-1RCV001480040|RCV001563842; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158383128158383128158383128-
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr)85476GFM1Uncertain significancers200244667RCV000395721|RCV001526738; NMONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583831291583831293:g.158383129G>TClinGen:CA2682647CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly)85476GFM1Uncertain significancers886058121RCV000306955; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583831301583831303:g.158383130A>GClinGen:CA10617841CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1404del (p.Gly469fs)85476GFM1Pathogenicrs779877297RCV001002677|RCV001869432; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583831461583831463:g.158383146_158383146del-
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp)85476GFM1Uncertain significancers750855220RCV000366352|RCV002520101; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583831511583831513:g.158383151G>AClinGen:CA2682652CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr)85476GFM1Uncertain significancers138058648RCV000757328|RCV001825499; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158383174158383174NC_000003.11:g.158383174G>T-
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)85476GFM1Pathogenicrs119470020RCV000004379; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583832321583832323:g.158383232T>GOMIM:606639.0003,ClinGen:CA210487,UniProtKB:Q96RP9#VAR_031901C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.1494A>G (p.Glu498=)85476GFM1Conflicting interpretations of pathogenicityrs149454742RCV000897890|RCV001148119; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583832391583832393:g.158383239A>GClinGen:CA2682670CN169374 not specified;
NM_024996.7(GFM1):c.1510del (p.Tyr504fs)85476GFM1Pathogenic-1RCV001783359; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158383255158383255158383254-
NM_024996.7(GFM1):c.1518+1G>A85476GFM1Uncertain significancers1560135491RCV000779395; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158383264158383264NC_000003.11:g.158383264G>A-
NM_024996.7(GFM1):c.1519-25A>G85476GFM1Benign-1RCV001543948|RCV001655852; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158384068158384068158384068-
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)85476GFM1Pathogenicrs1576757241RCV001002682; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583841201583841203:g.158384120T>C-
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)85476GFM1Pathogenicrs143031224RCV001002684; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583841451583841453:g.158384145C>T-
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)85476GFM1Pathogenic-1RCV001381644|RCV001831380; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158384150158384150158384150-
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)85476GFM1Benign/Likely benignrs114754676RCV000197206|RCV000883125|RCV001148120; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131583841671583841673:g.158384167C>TClinGen:CA321648CN169374 not specified;
NM_024996.7(GFM1):c.1601+9G>C85476GFM1Benignrs77186707RCV000125224|RCV000400146|RCV000676470; NMedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231583841841583841843:g.158384184G>CClinGen:CA291060CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1765-2_1765-1del85476GFM1Pathogenicrs1245712932RCV001223407|RCV001833935; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584023111584023123:g.158402311_158402312del-
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr)85476GFM1Uncertain significancers1576790457RCV000987348; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584023291584023293:g.158402329G>A-
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)85476GFM1Conflicting interpretations of pathogenicityrs762576741RCV000987349|RCV002550600; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231584023701584023703:g.158402370C>T-
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)85476GFM1Uncertain significance-1RCV001449604|RCV001865913; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158402371158402371158402371-
NM_024996.7(GFM1):c.1830C>T (p.Val610=)85476GFM1Likely benignrs139680551RCV000980112|RCV001832275; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584023781584023783:g.158402378C>T-
NM_024996.7(GFM1):c.1831C>T (p.Leu611=)85476GFM1Conflicting interpretations of pathogenicityrs190393538RCV000312996|RCV001521349; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231584023791584023793:g.158402379C>TClinGen:CA2683004CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1852A>G (p.Met618Val)85476GFM1Uncertain significancers767798328RCV001148121; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584024001584024003:g.158402400A>G-
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)85476GFM1Uncertain significance-1RCV002465084; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158402445158402445NC_000003.11:g.158402445G>C-
NM_024996.7(GFM1):c.1910-2A>T85476GFM1Likely pathogenic-1RCV001377756|RCV001826130; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158407950158407950158407950-
NM_024996.7(GFM1):c.1910-1G>A85476GFM1Uncertain significancers1462851267RCV000779396; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158407951158407951NC_000003.11:g.158407951G>A-
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu)85476GFM1Pathogenicrs1390685552RCV001002679; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584079641584079643:g.158407964C>AClinVar:812089
NM_024996.7(GFM1):c.1948A>G (p.Met650Val)85476GFM1Uncertain significancers147847472RCV001148122|RCV002559421|RCV002557175; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MeSH:D030342,MedGen:C095012331584079901584079903:g.158407990A>G-
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)85476GFM1Benign/Likely benignrs62288347RCV000125227|RCV000676471|RCV000999813; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584080321584080323:g.158408032G>AClinGen:CA291065CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)85476GFM1Pathogenicrs201408725RCV000197077|RCV000763507; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584080531584080533:g.158408053C>TClinGen:CA321516CN517202 not provided;
NM_024996.7(GFM1):c.2016T>C (p.His672=)85476GFM1Benignrs755853174RCV000921294|RCV001825858; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584080581584080583:g.158408058T>C-
NM_024996.7(GFM1):c.2070+11T>G85476GFM1Benign/Likely benignrs150000838RCV001148123|RCV001673019; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231584081231584081233:g.158408123T>G-
NM_024996.7(GFM1):c.2071-17A>G85476GFM1Benign/Likely benignrs76679758RCV000125228|RCV002055557|RCV002483248; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584089111584089113:g.158408911A>GClinGen:CA291067CN169374 not specified;
NM_024996.7(GFM1):c.2143A>G (p.Met715Val)85476GFM1Conflicting interpretations of pathogenicity-1RCV001665161|RCV001827557; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158409143158409143158409143-
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu)85476GFM1Uncertain significancers764933537RCV000199524|RCV001835722; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584091651584091653:g.158409165C>TClinGen:CA324068CN169374 not specified;
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)85476GFM1Conflicting interpretations of pathogenicityrs149049400RCV000275898|RCV000913641; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231584091901584091903:g.158409190C>TClinGen:CA2683128CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.2232del (p.Gly747fs)85476GFM1Uncertain significancers863224034RCV000198766|RCV001833146; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584092311584092313:g.158409231_158409231delClinGen:CA323296CN517202 not provided;
NM_024996.7(GFM1):c.*6C>T85476GFM1Benignrs1047355RCV000317038|RCV000676472|RCV001795960; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MedGen:CN1693743158409262158409262NC_000003.11:g.158409262C>TClinGen:CA2683135CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*116C>T85476GFM1Likely benignrs115593809RCV001149673|RCV001569157; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN51720231584093721584093723:g.158409372C>T-
NM_024996.7(GFM1):c.*119G>A85476GFM1Uncertain significancers886058122RCV000353040; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158409375158409375NC_000003.11:g.158409375G>AClinGen:CA10617845CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*164C>A85476GFM1Uncertain significancers924668466RCV001149674; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584094201584094203:g.158409420C>A-
NM_024996.7(GFM1):c.*226C>T85476GFM1Benignrs1047366RCV000262965|RCV001613134; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN5172023158409482158409482NC_000003.11:g.158409482C>TClinGen:CA10617846CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*245A>C85476GFM1Uncertain significancers886058123RCV000317976; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158409501158409501NC_000003.11:g.158409501A>CClinGen:CA10615640CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*429C>T85476GFM1Uncertain significancers914802350RCV001145360; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584096851584096853:g.158409685C>T-
NM_024996.7(GFM1):c.*539C>T85476GFM1Likely benignrs75254073RCV001145361; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584097951584097953:g.158409795C>T-
NM_024996.7(GFM1):c.*559T>C85476GFM1Uncertain significancers886058124RCV000323880; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158409815158409815NC_000003.11:g.158409815T>CClinGen:CA10617859CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*572A>G85476GFM1Uncertain significancers1726365121RCV001145362; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584098281584098283:g.158409828A>G-
NM_024996.7(GFM1):c.*578C>T85476GFM1Uncertain significancers758670778RCV000378782; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158409834158409834NC_000003.11:g.158409834C>TClinGen:CA10617860CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*635A>T85476GFM1Uncertain significancers1398384267RCV001145363; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584098911584098913:g.158409891A>T-
NM_024996.7(GFM1):c.*691T>A85476GFM1Benignrs8650RCV000288969; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158409947158409947NC_000003.11:g.158409947T>AClinGen:CA10617863CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*713C>T85476GFM1Benignrs16829307RCV000343936; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158409969158409969NC_000003.11:g.158409969C>TClinGen:CA10615648CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*731C>T85476GFM1Benignrs189114088RCV000384430; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158409987158409987NC_000003.11:g.158409987C>TClinGen:CA10617864CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*766G>T85476GFM1Benignrs114751518RCV000290294; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158410022158410022NC_000003.11:g.158410022G>TClinGen:CA10617590CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*803T>C85476GFM1Uncertain significancers1726381360RCV001147304; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584100591584100593:g.158410059T>C-
NM_024996.7(GFM1):c.*950C>T85476GFM1Uncertain significancers372706819RCV000349969; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158410206158410206NC_000003.11:g.158410206C>TClinGen:CA10617593CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*1004T>C85476GFM1Uncertain significancers190120734RCV000394550; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813158410260158410260NC_000003.11:g.158410260T>CClinGen:CA10615162CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*1033A>G85476GFM1Uncertain significancers919876624RCV001147305; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768131584102891584102893:g.158410289A>G-
NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr)84340GFM2Uncertain significancers141789665RCV000200345|RCV001824676|RCV002515405; NMedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681; MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624|MeSH:D030342,MedGen:C095012357402150974021509NC_000005.9:g.74021509A>TClinGen:CA324909
NM_032380.5(GFM2):c.1229T>A (p.Ile410Lys)84340GFM2Uncertain significancers863224037RCV000200121|RCV001824675; NMedGen:CN517202|MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624; MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768157403423474034234NC_000005.9:g.74034234A>TClinGen:CA324680
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln)84340GFM2Conflicting interpretations of pathogenicityrs761283105RCV000197518|RCV000515487|RCV000767875|RCV001824674; NMedGen:CN517202|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681; MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:5574043556740435565:g.74043556C>TClinGen:CA321987,OMIM:606544.0004C0751651 Mitochondrial diseases;
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)65080MRPL44Pathogenicrs1574796091RCV000791065; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768122248286242248286242:g.224828624T>A-
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys)56945MRPS22Uncertain significancers948280864RCV000714744; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:1376813139069024139069024NC_000003.11:g.139069024C>T-
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly)79731NARS2Uncertain significancers751383065RCV000626109; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768111781478447814784411:g.78147844G>CClinGen:CA382178463C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024678.6(NARS2):c.10del (p.Val4fs)79731NARS2Pathogenicrs1555047651RCV000626110; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681117828552478285524NC_000011.9:g.78285524delCClinGen:CA658797710C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe)57176VARS2Uncertain significancers1562465419RCV000714819; NMONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:13768163089389330893893NC_000006.11:g.30893893C>T-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000168827 MSeqDR Search EnsemblGFM114150G elongation factor, mitochondrial 1 [Source:HGNC Symbol;Acc:13780]00092

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