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
Parent Node:
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Metabolism, Inborn Errors (D008661)
..Starting node
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)

       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:2771
Name:COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
Definition:
Alternative IDs:DO:DOID:0060286
ParentIDs:MESH:D008661
TreeNumbers:C16.320.565/614946 |C18.452.648/614946
Synonyms:COXPD14
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 614946
MeSH: 614946
OMIM: 614946;
MSeqDR LSDB: 00094;  
Genes: FARS2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003355AminoaciduriaHP:0040283
3 HP:0001903AnemiaHP:0040283
4 HP:0007366Atrophy/Degeneration affecting the brainstem
5 HP:0001272Cerebellar atrophy
6 HP:0002059Cerebral atrophy
7 HP:0001522Death in infancy
8 HP:0002353EEG abnormality
9 HP:0011968Feeding difficulties
10 HP:0001290Generalized hypotonia
11 HP:0002171Gliosis
12 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
13 HP:0001263Global developmental delay
NAMDC:  Mental retardation
14 HP:0001510Growth delay
NAMDC:  Growth delay
15 HP:0000365Hearing impairmentHP:0040283
16 HP:0002151Increased serum lactate
17 HP:0003128Lactic acidosis
18 HP:0000252Microcephaly
19 HP:0001336Myoclonus
NAMDC:  Myoclonus
20 HP:0001250Seizures
NAMDC:  Seizures
21 HP:0001873ThrombocytopeniaHP:0040283
22 HP:0003828Variable expressivity
23 HP:0002119Ventriculomegaly
24 HP:0000505Visual impairmentHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000006.11:g.5262296_5395849del13355410667FARS2Likely pathogenic-1RCV000714945; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519652622965395849nana-
NC_000006.12:g.(?_5368551)_(5431192_?)del10667FARS2Pathogenic-1RCV000650601; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653687845431425nana-
NM_006567.5(FARS2):c.4G>T (p.Val2Leu)10667FARS2Uncertain significance-1RCV001068257; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653688075368807GT6:g.5368807G>T-
NM_006567.5(FARS2):c.6G>A (p.Val2=)10667FARS2Uncertain significance-1RCV001236357; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653688095368809GA6:g.5368809G>A-
NM_006567.5(FARS2):c.17T>C (p.Leu6Pro)10667FARS2Uncertain significance-1RCV001221769; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653688205368820TC6:g.5368820T>C-
NM_006567.5(FARS2):c.21G>T (p.Arg7Ser)10667FARS2Uncertain significancers764390927RCV000693164; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653688245368824GT6:g.5368824G>T-
NM_006567.5(FARS2):c.28G>T (p.Ala10Ser)10667FARS2Uncertain significancers753993545RCV000714912; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653688315368831GT6:g.5368831G>T-
NM_006567.5(FARS2):c.68T>A (p.Ile23Asn)10667FARS2Uncertain significance-1RCV001044374; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653688715368871TA6:g.5368871T>A-
NM_006567.5(FARS2):c.70T>A (p.Ser24Thr)10667FARS2Uncertain significance-1RCV001210330; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653688735368873TA6:g.5368873T>A-
NM_006567.5(FARS2):c.101C>T (p.Ser34Leu)10667FARS2Uncertain significancers148568494RCV000541416; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653689045368904CT6:g.5368904C>TClinGen:CA324244C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.102G>A (p.Ser34=)10667FARS2Benignrs113155624RCV000124979|RCV000551443; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653689055368905GA6:g.5368905G>AClinGen:CA290837C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.120G>T (p.Glu40Asp)10667FARS2Uncertain significance-1RCV001237157; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653689235368923GT6:g.5368923G>T-
NM_006567.5(FARS2):c.128C>G (p.Thr43Ser)10667FARS2Uncertain significancers769031929RCV000808731; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653689315368931CG6:g.5368931C>G-
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys)10667FARS2Benign/Likely benignrs34382405RCV000196113|RCV000539812; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653689735368973CG6:g.5368973C>GClinGen:CA320525,UniProtKB:O95363#VAR_052642
NM_006567.5(FARS2):c.183C>T (p.Asp61=)10667FARS2Benignrs73718082RCV000247463|RCV000554418; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653689865368986CT6:g.5368986C>TClinGen:CA3623602
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg)10667FARS2Likely pathogenicrs1554169280RCV000578287; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653689955368995CG6:g.5368995C>GClinGen:CA362734751C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.202C>T (p.Arg68Trp)10667FARS2Uncertain significance-1RCV001056273; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653690055369005CT6:g.5369005C>T-
NM_006567.5(FARS2):c.230A>T (p.Asn77Ile)10667FARS2Uncertain significance-1RCV001210053; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653690335369033AT6:g.5369033A>T-
NM_006567.5(FARS2):c.251A>C (p.His84Pro)10667FARS2Pathogenic-1RCV001250396; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653690545369054AC6:g.5369054A>C-
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala)10667FARS2Conflicting interpretations of pathogenicityrs770035560RCV000714938; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653690565369056CG6:g.5369056C>G-
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter)10667FARS2Pathogenicrs1229314240RCV000807810; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653690645369064GA6:g.5369064G>A-
NM_006567.5(FARS2):c.267C>G (p.Ile89Met)10667FARS2Uncertain significance-1RCV001060389; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653690705369070CG6:g.5369070C>G-
NM_006567.5(FARS2):c.288C>T (p.His96=)10667FARS2Benignrs201410497RCV000878474; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653690915369091CT6:g.5369091C>T-
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys)10667FARS2Uncertain significancers982485775RCV000714913; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691135369113CT6:g.5369113C>T-
NM_006567.5(FARS2):c.323C>T (p.Pro108Leu)10667FARS2Uncertain significancers374957295RCV000807526; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691265369126CT6:g.5369126C>T-
NM_006567.5(FARS2):c.324G>A (p.Pro108=)10667FARS2Likely benignrs139618748RCV000421142|RCV000650600; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691275369127GA6:g.5369127G>AClinGen:CA3623626C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.332C>T (p.Ser111Leu)10667FARS2Uncertain significancers369145259RCV000714914; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691355369135CT6:g.5369135C>T-
NM_006567.5(FARS2):c.333G>A (p.Ser111=)10667FARS2Uncertain significance-1RCV001205371; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691365369136GA6:g.5369136G>A-
NM_006567.5(FARS2):c.339C>T (p.Tyr113=)10667FARS2Benignrs41302853RCV000124980|RCV000532862|RCV000677018; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MedGen:CN517202653691425369142CT6:g.5369142C>TClinGen:CA290839C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.344A>G (p.Asn115Ser)10667FARS2Uncertain significancers200731335RCV000557742; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691475369147AG6:g.5369147A>GClinGen:CA3623630
NM_006567.5(FARS2):c.354A>G (p.Pro118=)10667FARS2Likely benignrs1554169338RCV000604903|RCV000714915; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691575369157AG6:g.5369157A>GClinGen:CA448721049CN169374 not specified;
NM_006567.5(FARS2):c.382A>T (p.Ser128Cys)10667FARS2Uncertain significance-1RCV001233474; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691855369185AT6:g.5369185A>T-
NM_006567.5(FARS2):c.390C>A (p.Leu130=)10667FARS2Likely benignrs767424737RCV000714916; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653691935369193CA6:g.5369193C>A-
NM_006567.5(FARS2):c.403C>G (p.His135Asp)10667FARS2Likely pathogenicrs1554169353RCV000714939; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692065369206CG6:g.5369206C>G-
NM_006567.5(FARS2):c.407C>A (p.Pro136His)10667FARS2Conflicting interpretations of pathogenicityrs199863563RCV000542910; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692105369210CA6:g.5369210C>AClinGen:CA3623639
NM_006567.5(FARS2):c.410G>C (p.Ser137Thr)10667FARS2Uncertain significance-1RCV001220834; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692135369213GC6:g.5369213G>C-
NM_006567.5(FARS2):c.411C>A (p.Ser137Arg)10667FARS2Uncertain significancers761360080RCV000650599; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692145369214CA6:g.5369214C>AClinGen:CA3623640
NM_006567.5(FARS2):c.426C>A (p.Asp142Glu)10667FARS2Uncertain significancers1561990280RCV000714917; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692295369229CA6:g.5369229C>A-
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)10667FARS2Pathogenic/Likely pathogenicrs397514610RCV000033044|RCV000162158|RCV000497519; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MONDO:MONDO:0004675,MedGen:C0162666; Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phe653692345369234AG6:g.5369234A>GUniProtKB:O95363#VAR_069487,OMIM:611592.0001,ClinGen:CA130596C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.455T>G (p.Leu152Arg)10667FARS2Uncertain significance-1RCV001207951; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692585369258TG6:g.5369258T>G-
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly)10667FARS2Likely pathogenicrs1561990337RCV000714940; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692605369260AG6:g.5369260A>G-
NM_006567.5(FARS2):c.461C>T (p.Ala154Val)10667FARS2Conflicting interpretations of pathogenicityrs749588235RCV000578201|RCV001246829; NMONDO:MONDO:0014882,MedGen:C4310750,OMIM:617046, Orphanet:466722|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692645369264CT6:g.5369264C>TClinGen:CA3623648,OMIM:611592.0009C4310750 617046 Spastic paraplegia 77, autosomal recessive;
NM_006567.5(FARS2):c.462G>T (p.Ala154=)10667FARS2Benign/Likely benignrs150477330RCV000433710|RCV000714918|RCV001200284; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MedGen:CN517202653692655369265GT6:g.5369265G>TClinGen:CA3623650CN169374 not specified;
NM_006567.5(FARS2):c.467C>T (p.Thr156Met)10667FARS2Conflicting interpretations of pathogenicityrs146988468RCV000714948; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692705369270CT6:g.5369270C>T-
NM_006567.5(FARS2):c.468G>A (p.Thr156=)10667FARS2Benignrs73718083RCV000422752|RCV000531369; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653692715369271GA6:g.5369271G>AClinGen:CA3623652C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.476A>C (p.His159Pro)10667FARS2Conflicting interpretations of pathogenicityrs1561990390RCV000714919|RCV000714941; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MONDO:MONDO:0014882,MedGen:C4310750,OMIM:617046, Orphanet:466722653692795369279AC6:g.5369279A>C-
NM_006567.5(FARS2):c.497C>T (p.Ala166Val)10667FARS2Uncertain significancers538791135RCV000546306; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693005369300CT6:g.5369300C>TClinGen:CA3623658C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)10667FARS2Conflicting interpretations of pathogenicityrs146356199RCV000200335|RCV000557427; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693095369309AT6:g.5369309A>TClinGen:CA324892C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.509C>G (p.Ala170Gly)10667FARS2Uncertain significancers141568455RCV000813261; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693125369312CG6:g.5369312C>G-
NM_006567.5(FARS2):c.530T>A (p.Val177Asp)10667FARS2Likely pathogenicrs1561990552RCV000714942; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693335369333TA6:g.5369333T>A-
NM_006567.5(FARS2):c.545A>G (p.Gln182Arg)10667FARS2Uncertain significancers543217289RCV000823227; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693485369348AG6:g.5369348A>G-
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn)10667FARS2Conflicting interpretations of pathogenicityrs554931092RCV000199293|RCV000535882; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693535369353GA6:g.5369353G>AClinGen:CA323826C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.559C>G (p.His187Asp)10667FARS2Uncertain significance-1RCV001196436; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693625369362CG6:g.5369362C>G-
NM_006567.5(FARS2):c.563A>G (p.Tyr188Cys)10667FARS2Uncertain significancers1554169419RCV000550511; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693665369366AG6:g.5369366A>GClinGen:CA362735550
NM_006567.5(FARS2):c.575A>C (p.His192Pro)10667FARS2Uncertain significance-1RCV001220788; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693785369378AC6:g.5369378A>C-
NM_006567.5(FARS2):c.578A>G (p.Gln193Arg)10667FARS2Uncertain significancers1561990721RCV000698505; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693815369381AG6:g.5369381A>G-C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.585G>A (p.Glu195=)10667FARS2Uncertain significancers764461862RCV000714920; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693885369388GA6:g.5369388G>A-
NM_006567.5(FARS2):c.588C>T (p.Ala196=)10667FARS2Likely benignrs138339047RCV000886872; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519653693915369391CT6:g.5369391C>T-
NM_006567.5(FARS2):c.606G>A (p.Lys202=)10667FARS2Benign/Likely benignrs17851782RCV000124981|RCV000560762|RCV001171979; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MedGen:CN517202653694095369409GA6:g.5369409G>AClinGen:CA290841C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NC_000006.12:g.(?_5404522)_(5404721_?)del10667FARS2Uncertain significance-1RCV000708020; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654047555404954nana-
NM_006567.5(FARS2):c.613-11T>C10667FARS2Likely benignrs1562015282RCV000714921; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654047645404764TC6:g.5404764T>C-
NM_006567.5(FARS2):c.613-4A>G10667FARS2Likely benignrs1554181180RCV000534362; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654047715404771AG6:g.5404771A>GClinGen:CA658657573
NM_006567.5(FARS2):c.625A>G (p.Ile209Val)10667FARS2Uncertain significance-1RCV001229561; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654047875404787AG6:g.5404787A>G-
NM_006567.5(FARS2):c.629A>G (p.Lys210Arg)10667FARS2Uncertain significance-1RCV001054348; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654047915404791AG6:g.5404791A>G-
NM_006567.5(FARS2):c.638A>G (p.Glu213Gly)10667FARS2Uncertain significancers1044543244RCV000714922; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048005404800AG6:g.5404800A>G-
NM_006567.5(FARS2):c.649C>G (p.Leu217Val)10667FARS2Uncertain significance-1RCV001049242; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048115404811CG6:g.5404811C>G-
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)10667FARS2Conflicting interpretations of pathogenicityrs202060864RCV000196357|RCV000650594; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048295404829CT6:g.5404829C>TClinGen:CA320775C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.673G>A (p.Ala225Thr)10667FARS2Uncertain significance-1RCV001224104; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048355404835GA6:g.5404835G>A-
NM_006567.5(FARS2):c.674C>T (p.Ala225Val)10667FARS2Uncertain significance-1RCV001221805; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048365404836CT6:g.5404836C>T-
NM_006567.5(FARS2):c.675G>A (p.Ala225=)10667FARS2Likely benignrs370034437RCV000968943; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048375404837GA6:g.5404837G>A-
NM_006567.5(FARS2):c.676C>T (p.His226Tyr)10667FARS2Conflicting interpretations of pathogenicityrs201991648RCV000549295; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048385404838CT6:g.5404838C>TClinGen:CA3623711
NM_006567.5(FARS2):c.692A>T (p.His231Leu)10667FARS2Uncertain significancers137910005RCV000816426; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048545404854AT6:g.5404854A>T-
NM_006567.5(FARS2):c.694A>G (p.Thr232Ala)10667FARS2Uncertain significance-1RCV001035105; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048565404856AG6:g.5404856A>G-
NM_006567.5(FARS2):c.706G>A (p.Val236Met)10667FARS2Uncertain significancers369015058RCV000714923; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048685404868GA6:g.5404868G>A-
NM_006567.5(FARS2):c.730A>C (p.Lys244Gln)10667FARS2Uncertain significancers767530718RCV000650596; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654048925404892AC6:g.5404892A>CClinGen:CA3623719C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)10667FARS2Benign/Likely benignrs116567033RCV000124982|RCV000527403|RCV000677019; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MedGen:CN517202654048995404899CT6:g.5404899C>TClinGen:CA290843C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.748C>T (p.Leu250Phe)10667FARS2Uncertain significancers1562015600RCV000714924; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654049105404910CT6:g.5404910C>T-
NM_006567.5(FARS2):c.750C>A (p.Leu250=)10667FARS2Likely benignrs951916099RCV000542297; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654049125404912CA6:g.5404912C>AClinGen:CA134315048C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.754G>A (p.Ala252Thr)10667FARS2Uncertain significancers371390356RCV000548968; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654049165404916GA6:g.5404916G>AClinGen:CA3623725
NM_006567.5(FARS2):c.768A>C (p.Gly256=)10667FARS2Benign/Likely benignrs200003967RCV000714925; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654049305404930AC6:g.5404930A>C-
NM_006567.5(FARS2):c.772+4A>C10667FARS2Uncertain significance-1RCV001236527; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654049385404938AC6:g.5404938A>C-
NC_000006.11:g.(?_5431254)_(5431425_?)dup10667FARS2Uncertain significance-1RCV000708283; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654312545431425nana-
NM_006567.5(FARS2):c.781A>T (p.Ile261Leu)10667FARS2Uncertain significancers201927340RCV000650593; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654312825431282AT6:g.5431282A>TClinGen:CA3623756
NM_006567.5(FARS2):c.781A>G (p.Ile261Val)10667FARS2Uncertain significancers201927340RCV000798111; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654312825431282AG6:g.5431282A>G-
NM_006567.5(FARS2):c.786A>G (p.Arg262=)10667FARS2Uncertain significance-1RCV001204059; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654312875431287AG6:g.5431287A>G-
NM_006567.5(FARS2):c.792del (p.Asp265fs)10667FARS2Pathogenic/Likely pathogenicrs761097220RCV000703415|RCV001009136; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MedGen:CN517202654312935431293TAT6:g.5431293_5431293del-C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter)10667FARS2Pathogenicrs761709212RCV000624131|RCV001225070; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313025431302CG6:g.5431302C>GClinGen:CA3623761C0950123 Inborn genetic diseases;
NM_006567.5(FARS2):c.812del (p.Thr271fs)10667FARS2Pathogenicrs1429774361RCV000810202; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313135431313ACA6:g.5431313_5431313del-
NM_006567.5(FARS2):c.819T>A (p.Pro273=)10667FARS2Benign/Likely benignrs201042275RCV000714926; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313205431320TA6:g.5431320T>A-
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser)10667FARS2Benignrs11243011RCV000124983|RCV000677020|RCV000714927; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313405431340AG6:g.5431340A>GClinGen:CA290845,UniProtKB:O95363#VAR_052643CN517202 not provided;
NM_006567.5(FARS2):c.839A>C (p.Asn280Thr)10667FARS2Uncertain significancers11243011RCV000698704; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313405431340AC6:g.5431340A>C-C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.846T>A (p.His282Gln)10667FARS2Uncertain significance-1RCV001048277; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313475431347TA6:g.5431347T>A-
NM_006567.5(FARS2):c.873C>T (p.Cys291=)10667FARS2Benign/Likely benignrs372301183RCV000611599|RCV000714928; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313745431374CT6:g.5431374C>TClinGen:CA3623773CN169374 not specified;
NM_006567.5(FARS2):c.874G>A (p.Gly292Arg)10667FARS2Uncertain significance-1RCV001222564; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313755431375GA6:g.5431375G>A-
NM_006567.5(FARS2):c.882G>C (p.Met294Ile)10667FARS2Uncertain significancers886256686RCV000821621; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313835431383GC6:g.5431383G>C-
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter)10667FARS2Pathogenic-1RCV001240651; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654313875431387CT6:g.5431387C>T-
NM_006567.5(FARS2):c.899A>G (p.Asn300Ser)10667FARS2Uncertain significancers863223959RCV000195620|RCV001242815; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654314005431400AG6:g.5431400A>GClinGen:CA319978CN169374 not specified;
NM_006567.5(FARS2):c.904+9G>C10667FARS2Likely benignrs201412926RCV000981556; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519654314145431414GC6:g.5431414G>C-
NC_000006.12:g.(?_5545160)_(5545360_?)del10667FARS2Pathogenic-1RCV001033629; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655453935545593nana-1-
NM_006567.5(FARS2):c.905-1G>A10667FARS2Likely pathogenicrs1298860043RCV000714949; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454125545412GA6:g.5545412G>A-
GRCh37/hg19 6p25.1(chr6:5545413-5545573)10667FARS2Pathogenic-1RCV001004080; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454135545573nana-
NM_006567.5(FARS2):c.905C>T (p.Ala302Val)10667FARS2Uncertain significance-1RCV001222832; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454135545413CT6:g.5545413C>T-
NM_006567.5(FARS2):c.914A>G (p.Gln305Arg)10667FARS2Uncertain significance-1RCV001069752; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454225545422AG6:g.5545422A>G-
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter)10667FARS2Conflicting interpretations of pathogenicityrs148620369RCV000527357|RCV000598985; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MedGen:CN517202655454275545427CT6:g.5545427C>TClinGen:CA3623835
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)10667FARS2Pathogenic/Likely pathogenicrs746746116RCV000714943|RCV001092144; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MedGen:CN517202655454335545433GA6:g.5545433G>A-
NM_006567.5(FARS2):c.945A>G (p.Gly315=)10667FARS2Conflicting interpretations of pathogenicityrs1057522221RCV000431399|RCV000808579; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454535545453AG6:g.5545453A>GClinGen:CA16605554
NM_006567.5(FARS2):c.958G>A (p.Ala320Thr)10667FARS2Uncertain significance-1RCV001043192; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454665545466GA6:g.5545466G>A-
NM_006567.5(FARS2):c.958G>T (p.Ala320Ser)10667FARS2Uncertain significance-1RCV001061787; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454665545466GT6:g.5545466G>T-
NM_006567.5(FARS2):c.961A>G (p.Met321Val)10667FARS2Uncertain significance-1RCV001202603; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454695545469AG6:g.5545469A>G-
NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys)10667FARS2Conflicting interpretations of pathogenicityrs142073519RCV000196488|RCV000541945; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454795545479AG6:g.5545479A>GClinGen:CA320903C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr)10667FARS2Likely pathogenicrs764427452RCV000239485; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454815545481GT6:g.5545481G>TClinGen:CA10586222,OMIM:611592.0004C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn)10667FARS2Uncertain significancers764427452RCV000421435|RCV001067537; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454815545481GA6:g.5545481G>AClinGen:CA3623847CN517202 not provided;
NM_006567.5(FARS2):c.984T>C (p.Asp328=)10667FARS2Likely benignrs201390927RCV000714929; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454925545492TC6:g.5545492T>C-
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)10667FARS2Likely pathogenicrs397514611RCV000033045; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454945545494TC6:g.5545494T>CClinGen:CA130597,UniProtKB:O95363#VAR_069488,OMIM:611592.0002C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.988C>T (p.Arg330Cys)10667FARS2Uncertain significance-1RCV001214502; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454965545496CT6:g.5545496C>T-
NM_006567.5(FARS2):c.989G>A (p.Arg330His)10667FARS2Uncertain significancers863223957RCV000677021|RCV001215842; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655454975545497GA6:g.5545497G>AClinGen:CA322753CN517202 not provided;
NM_006567.5(FARS2):c.1001G>A (p.Cys334Tyr)10667FARS2Uncertain significance-1RCV001042969; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655455095545509GA6:g.5545509G>A-
NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys)10667FARS2Uncertain significancers779793214RCV000650597; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655455175545517GA6:g.5545517G>AClinGen:CA3623852C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1012C>T (p.Arg338Cys)10667FARS2Uncertain significance-1RCV001038614; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655455205545520CT6:g.5545520C>T-
NM_006567.5(FARS2):c.1012C>A (p.Arg338Ser)10667FARS2Uncertain significance-1RCV001209613; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655455205545520CA6:g.5545520C>A-
NM_006567.5(FARS2):c.1014C>T (p.Arg338=)10667FARS2Benignrs41302855RCV000714930; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655455225545522CT6:g.5545522C>T-
NM_006567.5(FARS2):c.1051A>C (p.Lys351Gln)10667FARS2Uncertain significance-1RCV001225688; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655455595545559AC6:g.5545559A>C-
NM_006567.5(FARS2):c.1054G>T (p.Val352Leu)10667FARS2Uncertain significancers1360751755RCV000714931; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655455625545562GT6:g.5545562G>T-
NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln)10667FARS2Uncertain significancers762302341RCV000793798; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519655455655545565AC6:g.5545565A>C-
NC_000006.12:g.(?_5613149)_(5613340_?)del10667FARS2Uncertain significance-1RCV000650602; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656133825613573nana-
NM_006567.5(FARS2):c.1066-15C>G10667FARS2Likely benignrs769574194RCV000714932; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656133875613387CG6:g.5613387C>G-
NM_006567.5(FARS2):c.1069C>T (p.Leu357Phe)10667FARS2Uncertain significancers370983000RCV000650595; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134055613405CT6:g.5613405C>TClinGen:CA3623881C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)10667FARS2Conflicting interpretations of pathogenicityrs751459058RCV000200808|RCV000525331|RCV000578164|RCV000622524; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519|MONDO:MONDO:0014882,MedGen:C4310750,OMIM:617046, Orphanet:466722|MeSH:D030342,MedGen:C0950123656134185613418CT6:g.5613418C>TClinGen:CA325392,OMIM:611592.0008C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1083G>A (p.Pro361=)10667FARS2Likely benignrs762103254RCV000714933; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134195613419GA6:g.5613419G>A-
NM_006567.5(FARS2):c.1084G>T (p.Ala362Ser)10667FARS2Uncertain significance-1RCV001235520; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134205613420GT6:g.5613420G>T-
NM_006567.5(FARS2):c.1094A>G (p.Asn365Ser)10667FARS2Uncertain significancers373811519RCV000714934; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134305613430AG6:g.5613430A>G-
NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer)10667FARS2Uncertain significancers1554116357RCV000650598; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134455613447GGTAACCAGAATGAA6:g.5613445_5613446insACCAGAATGAAClinGen:CA658796714
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe)10667FARS2Pathogenic-1RCV001250395; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134495613449GT6:g.5613449G>T-
NM_006567.5(FARS2):c.1128C>T (p.Tyr376=)10667FARS2Likely benignrs139204875RCV000616101|RCV000877860; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134645613464CT6:g.5613464C>TClinGen:CA3623892CN169374 not specified;
NM_006567.5(FARS2):c.1129G>A (p.Ala377Thr)10667FARS2Uncertain significance-1RCV001056496; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134655613465GA6:g.5613465G>A-
NM_006567.5(FARS2):c.1145A>G (p.Tyr382Cys)10667FARS2Uncertain significancers1472285290RCV000714935; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134815613481AG6:g.5613481A>G-
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly)10667FARS2Uncertain significancers770597592RCV000714944; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134925613492CG6:g.5613492C>G-
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser)10667FARS2Likely pathogenicrs1407198979RCV000578458; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656134995613499TG6:g.5613499T>GClinGen:CA362736964C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)10667FARS2Likely pathogenicrs397514612RCV000033046; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656135085613508AT6:g.5613508A>TClinGen:CA130598,UniProtKB:O95363#VAR_069489,OMIM:611592.0003C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1208T>C (p.Val403Ala)10667FARS2Uncertain significance-1RCV001036286; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656135445613544TC6:g.5613544T>C-
NM_006567.5(FARS2):c.1209A>G (p.Val403=)10667FARS2Likely benignrs147628137RCV000539910; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656135455613545AG6:g.5613545A>GClinGen:CA3623905
NM_006567.5(FARS2):c.1212T>A (p.His404Gln)10667FARS2Uncertain significancers1582585768RCV000817404; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656135485613548TA6:g.5613548T>A-
NM_006567.5(FARS2):c.1217A>G (p.Lys406Arg)10667FARS2Uncertain significance-1RCV001232805; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519656135535613553AG6:g.5613553A>G-
NM_006567.5(FARS2):c.1220C>T (p.Thr407Met)10667FARS2Conflicting interpretations of pathogenicityrs372054960RCV000198201|RCV000691495; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715265771526CT6:g.5771526C>TClinGen:CA322703C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1243C>T (p.Arg415Cys)10667FARS2Uncertain significance-1RCV001242460; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715495771549CT6:g.5771549C>T-
NM_006567.5(FARS2):c.1250C>T (p.Thr417Met)10667FARS2Uncertain significance-1RCV001069736; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715565771556CT6:g.5771556C>T-
NM_006567.5(FARS2):c.1256G>A (p.Arg419His)10667FARS2Likely pathogenicrs202183509RCV000493622|RCV001250393; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715625771562GA6:g.5771562G>AClinGen:CA3623926CN517202 not provided;
NM_006567.5(FARS2):c.1267C>T (p.Arg423Trp)10667FARS2Uncertain significancers145697325RCV000690369; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715735771573CT6:g.5771573C>T-C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln)10667FARS2Conflicting interpretations of pathogenicityrs148921184RCV000198469|RCV000554776; NMedGen:CN517202|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715745771574GA6:g.5771574G>AClinGen:CA322976C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter)10667FARS2Pathogenic-1RCV001250394; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715745771575GGGACTCTGT6:g.5771574_5771575insGACTCTGT-
NM_006567.5(FARS2):c.1269G>T (p.Arg423=)10667FARS2Uncertain significance-1RCV001219499; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715755771575GT6:g.5771575G>T-
NM_006567.5(FARS2):c.1273C>T (p.Leu425=)10667FARS2Likely benignrs143662929RCV000950584; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715795771579CT6:g.5771579C>T-
NM_006567.5(FARS2):c.1280A>G (p.Gln427Arg)10667FARS2Likely benignrs778281728RCV000945681; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657715865771586AG6:g.5771586A>G-
NM_006567.5(FARS2):c.1296C>T (p.His432=)10667FARS2Likely benignrs1261704455RCV000714936; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657716025771602CT6:g.5771602C>T-
NM_006567.5(FARS2):c.1308C>G (p.Ala436=)10667FARS2Likely benignrs965780712RCV000529517; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657716145771614CG6:g.5771614C>GClinGen:CA134356523C3554168 614946 Combined oxidative phosphorylation deficiency 14;
NM_006567.5(FARS2):c.1344G>A (p.Glu448=)10667FARS2Likely benignrs945267016RCV000422351|RCV000714937; NMedGen:CN169374|MONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657716505771650GA6:g.5771650G>AClinGen:CA16605070CN169374 not specified;
NM_006567.5(FARS2):c.*4C>T10667FARS2Uncertain significancers200232967RCV000714911; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519657716665771666CT6:g.5771666C>T-
NC_000006.11:g.5193613_5281294del87682-1FARS2;LYRM4Likely pathogenic-1RCV000714946; NMONDO:MONDO:0013986,MedGen:C3554168,OMIM:614946, Orphanet:319519651936135281294nana-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000145982 MSeqDR Search EnsemblFARS213157phenylalanyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:21062]00094

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