MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Brain Diseases, Metabolic, Inborn (D020739)
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Mitochondrial Diseases (D028361)
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Pyruvate Metabolism, Inborn Errors (D015323)
..Starting node
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Pyruvate Carboxylase Deficiency Disease (D015324)

       Child Nodes:
........expandLeigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255)



 Sister Nodes: 
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandPyruvate Kinase Deficiency of Red Cells (C564858)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9544
Name:Pyruvate Carboxylase Deficiency Disease
Definition:An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Alternative IDs:OMIM:266150
ParentIDs:MESH:D015323|MESH:D020739|MESH:D028361
TreeNumbers:C10.228.140.163.100.725 |C16.320.565.189.725 |C16.320.565.202.810.666 |C18.452.132.100.725 |C18.452.648.189.725 |C18.452.648.202.810.666 |C18.452.660.705
Synonyms:Ataxia with Lactic Acidosis 2 |Ataxia with Lactic Acidosis II |Ataxia with Lactic Acidosis, Type II |Deficiency Disease, Pyruvate Carboxylase |Deficiency, Pyruvate Carboxylase |Lactic Acidosis with Ataxia, Type II |LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUV
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D015324
MeSH: D015324
OMIM: 266150;
MSeqDR LSDB: 00398;  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0002169Clonus
4 HP:0001263Global developmental delay
NAMDC:  Mental retardation
5 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
6 HP:0002240Hepatomegaly
7 HP:0003348Hyperalaninemia
8 HP:0001943Hypoglycemia
9 HP:0002151Increased serum lactate
10 HP:0003542Increased serum pyruvate
11 HP:0001249Intellectual disability
12 HP:0003128Lactic acidosis
13 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
14 HP:0007190Neuronal loss in the cerebral cortex
15 HP:0006970Periventricular leukomalacia
16 HP:0002049Proximal renal tubular acidosis
17 HP:0001250Seizures
NAMDC:  Seizures
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000920.3(PC):c.*373C>T5091PCUncertain significance189863040RCV000345621; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661599766615997-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.*353A>G5091PCUncertain significance557595819RCV000404528; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661601766616017-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.*203T>C5091PCUncertain significance886048553RCV000310710; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661616766616167-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.*185G>A5091PCUncertain significance573667993RCV000358544; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661618566616185-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.*164dupT5091PCUncertain significance762257488RCV000396175; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661620666616206-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.*161C>T5091PCUncertain significance886048554RCV000304540; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661620966616209-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.*43C>T5091PCUncertain significance751861809RCV000361559; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661632766616327-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.*15G>A5091PCConflicting interpretations of pathogenicity45501894RCV000260329; RCV000429446; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116661635566616355-CN169374 not specified;
NM_000920.3(PC):c.3473G>A (p.Arg1158His)5091PCUncertain significance149054698RCV000317908; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661643466616434-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.3462G>C (p.Glu1154Asp)5091PCUncertain significance-1RCV000691801; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661644566616445-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.3435G>T (p.Met1145Ile)5091PCUncertain significance201796252RCV000356215; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661647266616472-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.3409_3410delCT (p.Leu1137Valfs)5091PCPathogenic113994148RCV000020391; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661649766616498-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.3391G>A (p.Val1131Met)5091PCUncertain significance116518022RCV000707608; RCV000676956; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116661651666616516-CN517202 not provided;
NM_001040716.1(PC):c.3359_3362dup (p.Ile1123Argfs)5091PCLikely pathogenic1555013840RCV000670832; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661654466616544-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.3341C>T (p.Ala1114Val)5091PCUncertain significance148492494RCV000263852; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661656666616566-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.3231_3233delCTT (p.Phe1078del)5091PCUncertain significance1555014068RCV000665453; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661675566616758-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.3198C>T (p.Ser1066=)5091PCConflicting interpretations of pathogenicity144087445RCV000330539; RCV000441993; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116661679166616791-CN169374 not specified;
NM_000920.3(PC):c.3141_3142delGTinsA (p.Phe1048Leufs)5091PCLikely pathogenic1555014332RCV000670716; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661708666617088-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2974_2976delAAG (p.Lys992del)5091PCUncertain significance751225998RCV000669634; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661725266617255-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2874G>T (p.Gly958=)5091PCBenign1131855RCV000020390; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661743266617432-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2804C>T (p.Ala935Val)5091PCUncertain significance139540331RCV000387311; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661750266617502-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2723C>T (p.Thr908Met)5091PCConflicting interpretations of pathogenicity796052032RCV000675135; RCV000186130; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116661758366617583-CN517202 not provided;
NM_000920.3(PC):c.2719-5_2719-3delCTC5091PCUncertain significance566558597RCV000295448; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661759066617592-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2714_2716delTCA (p.Ile905del)5091PCUncertain significance1555014903RCV000673523; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661769266617695-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2705G>A (p.Gly902Asp)5091PCUncertain significance886048555RCV000334127; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661770466617704-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2668G>T (p.Val890Phe)5091PCPathogenic1555014957RCV000576201; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661774166617741-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2619C>T (p.Asn873=)5091PCUncertain significance2229745RCV000020389; RCV000676958; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116661779066617790-CN517202 not provided;
NM_001040716.1(PC):c.2605_2610dup (p.Gln870_Tyr871insGlyGln)5091PCUncertain significance1555015012RCV000671691; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661779866617798-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2606G>A (p.Gly869Asp)5091PCUncertain significance1555015018RCV000670028; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661780366617803-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2580C>T (p.Asp860=)5091PCBenign/Likely benign45584036RCV000289851; RCV000676959; RCV000127317; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202; MedGen:CN169374116661782966617829-CN517202 not provided;
NM_000920.3(PC):c.2550C>T (p.Cys850=)5091PCConflicting interpretations of pathogenicity61749179RCV000347109; RCV000127316; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116661785966617859-CN169374 not specified;
NM_000920.3(PC):c.2540C>T (p.Ala847Val)5091PCPathogenic113994147RCV000020388; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661786966617869-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2493_2494delGT (p.Phe832Terfs)5091PCPathogenic756355930RCV000672343; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661791466617916-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2292C>G (p.Pro764=)5091PCUncertain significance757918962RCV000392379; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661832666618326-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2286C>G (p.Arg762=)5091PCBenign1051707RCV000020387; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661833266618332-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2229G>T (p.Met743Ile)5091PCPathogenic28940590RCV000002176; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661838966618389OMIM Allelic Variant:608786.0002,UniProtKB (protein):P11498#VAR_008096C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2224-9T>G5091PCBenign/Likely benign45560936RCV000284115; RCV000676960; RCV000127314; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202; MedGen:CN169374116661840366618403-CN517202 not provided;
NM_000920.3(PC):c.2224-15_2224-14delTC5091PCUncertain significance139065746RCV000341533; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661840866618409-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.2114C>A (p.Ser705Ter)5091PCPathogenic113994146RCV000020385; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661862066618620-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1892G>A (p.Arg631Gln)5091PCPathogenic113994145RCV000020384; RCV000484861; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116661935166619351UniProtKB (protein):P11498#VAR_058961CN517202 not provided;
NM_000920.3(PC):c.1832C>T (p.Thr611Met)5091PCUncertain significance-1RCV000714682; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661941166619411-
NM_000920.3(PC):c.1828G>A (p.Ala610Thr)5091PCPathogenic28940589RCV000002175; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661941566619415OMIM Allelic Variant:608786.0001,UniProtKB (protein):P11498#VAR_008095C0034341 266150 Pyruvate carboxylase deficiency;
NM_001040716.1(PC):c.1748G>T (p.Arg583Leu)5091PCPathogenic119103242RCV000002182; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116661998766619987OMIM Allelic Variant:608786.0008,UniProtKB (protein):P11498#VAR_058960C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1705A>G (p.Thr569Ala)5091PCPathogenic113994144RCV000020382; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116662003066620030-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1702A>G (p.Thr568Ala)5091PCUncertain significance199969388RCV000402939; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116662003366620033-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1646G>A (p.Gly549Glu)5091PCUncertain significance886048556RCV000297072; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116662008966620089-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1608G>A (p.Pro536=)5091PCConflicting interpretations of pathogenicity139074169RCV000354388; RCV000186102; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116662012766620127-CN169374 not specified;
NM_000920.3(PC):c.1514-6C>T5091PCUncertain significance745563711RCV000406206; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116662031366620313-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1513+13delA5091PCConflicting interpretations of pathogenicity755170894RCV000300746; RCV000186099; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116662069766620697-CN169374 not specified;
NM_000920.3(PC):c.1513+9C>A5091PCBenign/Likely benign45580638RCV000367172; RCV000117897; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116662070166620701-CN169374 not specified;
NM_000920.3(PC):c.1401C>T (p.Asn467=)5091PCUncertain significance45623237RCV000271718; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116662082266620822-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1368+1G>A5091PCLikely pathogenic755640269RCV000516896; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663124466631244-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1357C>T (p.Arg453Ter)5091PCPathogenic768514713RCV000504155; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663125666631256-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1351C>T (p.Arg451Cys)5091PCPathogenic113994143RCV000002178; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663126266631262OMIM Allelic Variant:608786.0004,UniProtKB (protein):P11498#VAR_015200C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1344G>A (p.Ala448=)5091PCConflicting interpretations of pathogenicity148281644RCV000326730; RCV000186115; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116663126966631269-CN169374 not specified;
NM_000920.3(PC):c.1233C>T (p.Ser411=)5091PCUncertain significance747247743RCV000362739; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663138066631380-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1225_1227delAAT (p.Asn409del)5091PCUncertain significance1555023879RCV000670010; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663138566631388-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1185+5_1185+8delGCGG5091PCConflicting interpretations of pathogenicity748620956RCV000675082; RCV000489540; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116663365066633653-CN517202 not provided;
NM_000920.3(PC):c.1181T>C (p.Ile394Thr)5091PCConflicting interpretations of pathogenicity1057520687RCV000675086; RCV000433773; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116663366266633662-CN517202 not provided;
NM_000920.3(PC):c.1167G>A (p.Pro389=)5091PCConflicting interpretations of pathogenicity556534486RCV000277502; RCV000425550; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116663367666633676-CN169374 not specified;
NM_000920.3(PC):c.1054G>T (p.Ala352Ser)5091PCBenign1051704RCV000020381; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663378966633789-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1023-14C>G5091PCUncertain significance111858832RCV000332434; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663383466633834-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1022+1G>A5091PCLikely pathogenic1555025823RCV000672699; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663631666636316-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.927C>T (p.Thr309=)5091PCConflicting interpretations of pathogenicity373717650RCV000387000; RCV000612724; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116663641266636412-CN169374 not specified;
NM_000920.3(PC):c.879C>T (p.Ser293=)5091PCUncertain significance183131461RCV000292711; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663779766637797-C0034341 266150 Pyruvate carboxylase deficiency;
NM_022172.2(PC):c.806G>A (p.Arg269Gln)5091PCUncertain significance1349343839RCV000665403; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663787066637870-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.796T>A (p.Ser266Thr)5091PCPathogenic113994142RCV000020392; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663788066637880-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.796T>G (p.Ser266Ala)5091PCConflicting interpretations of pathogenicity113994142RCV000675077; RCV000431389; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116663788066637880-CN517202 not provided;
NM_000920.3(PC):c.788G>A (p.Arg263Gln)5091PCConflicting interpretations of pathogenicity769177104RCV000632922; RCV000186127; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116663788866637888-CN517202 not provided;
NM_000920.3(PC):c.786G>T (p.Glu262Asp)5091PCConflicting interpretations of pathogenicity200030109RCV000664794; RCV000186122; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202116663789066637890-CN517202 not provided;
NM_000920.3(PC):c.715A>G (p.Ile239Val)5091PCUncertain significance148805312RCV000319569; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663828266638282-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.633+38_633+58del215091PCLikely benign1213292231RCV000672056; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663846466638485-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.633+2T>C5091PCLikely pathogenic763433647RCV000666561; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663852166638521-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.584C>T (p.Ala195Val)5091PCUncertain significance1436643226RCV000667975; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663857266638572-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.543C>T (p.His181=)5091PCUncertain significance139717038RCV000374071; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663861366638613-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.467G>A (p.Arg156Gln)5091PCUncertain significance119103241RCV000002181; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663880666638806OMIM Allelic Variant:608786.0007,UniProtKB (protein):P11498#VAR_058957C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.434T>C (p.Val145Ala)5091PCPathogenic28940591RCV000002177; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663883966638839OMIM Allelic Variant:608786.0003,UniProtKB (protein):P11498#VAR_015199C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.372_375delAGCG (p.Ala125Thrfs)5091PCPathogenic-1RCV000698019; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663889866638901-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.331G>A (p.Val111Ile)5091PCUncertain significance753573264RCV000632921; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663894266638942-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.227A>T (p.His76Leu)5091PCBenign7104156RCV000020386; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663925266639252UniProtKB (protein):P11498#VAR_048416C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.216G>A (p.Thr72=)5091PCConflicting interpretations of pathogenicity117711892RCV000279552; RCV000676962; RCV000127319; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN517202; MedGen:CN169374116663926366639263-CN517202 not provided;
NM_000920.3(PC):c.184C>T (p.Arg62Cys)5091PCPathogenic113994141RCV000020383; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663929566639295-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.75C>T (p.Ala25=)5091PCUncertain significance886048557RCV000334649; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663955666639556-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.52C>A (p.Arg18=)5091PCConflicting interpretations of pathogenicity144583275RCV000393481; RCV000616361; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001; MedGen:CN169374116663957966639579-CN169374 not specified;
NM_000920.3(PC):c.52C>T (p.Arg18Ter)5091PCLikely pathogenic144583275RCV000669751; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116663957966639579-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.1-35661G>T5091PCUncertain significance1555040359RCV000671091; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116667529166675291-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.-86A>C5091PCLikely benign192495346RCV000285200; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116672583966725839-C0034341 266150 Pyruvate carboxylase deficiency;
NM_000920.3(PC):c.-94G>A5091PCUncertain significance886048558RCV000340170; NMedGen:C0034341,OMIM:266150, Orphanet:ORPHA3008,SNOMED CT:87694001116672584766725847-C0034341 266150 Pyruvate carboxylase deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000173599 MSeqDR Search EnsemblPC11988pyruvate carboxylase [Source:HGNC Symbol;Acc:8636]00398

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