MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Infant, Newborn, Diseases (D007232)
Parent Node:
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Mitochondrial Diseases (D028361)
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Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)

       Child Nodes:



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

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1924
Name:Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Definition:
Alternative IDs:OMIM:608836
ParentIDs:MESH:D007232|MESH:D028361
TreeNumbers:C16.614/C563463 |C18.452.660/C563463
Synonyms:Carnitine Palmitoyltransferase II Deficiency, Antenatal |Carnitine Palmitoyltransferase II Deficiency, Neonatal |CPT2 Deficiency, Lethal Neonatal |CPT II Deficiency, Lethal Neonatal
Slim Mappings:Infant-newborn disease|Metabolic disease
Reference: MedGen: C563463
MeSH: C563463
OMIM: 608836;
MSeqDR LSDB: 00487;  
Genes: CPT2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001760Abnormality of the foot
3 HP:0001274Agenesis of corpus callosum
4 HP:0007023Antenatal intracerebral hemorrhage
5 HP:0002104Apnea
6 HP:0011675Arrhythmia
NAMDC:  Cardiac conduction block
7 HP:0006799Basal ganglia cysts
8 HP:0000414Bulbous nose
9 HP:0001640Cardiomegaly
10 HP:0000518Cataract
NAMDC:  Cataracts
11 HP:0008315Decreased plasma free carnitine
12 HP:0011936Decreased plasma total carnitine
13 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
14 HP:0002987Elbow flexion contracture
15 HP:0002910Elevated hepatic transaminases
16 HP:0003455Elevated long chain fatty acids
17 HP:0045016Elevated serum long-chain fatty acids
18 HP:0000105Enlarged kidney Congenital onset
19 HP:0008872Feeding difficulties in infancy
20 HP:0006559Hepatic calcification
21 HP:0002240Hepatomegaly
22 HP:0000348High forehead
23 HP:0000218High palate
24 HP:0000126Hydronephrosis
25 HP:0001987Hyperammonemia
26 HP:0001800Hypoplastic toenails
27 HP:0009058Increased muscle lipid content
28 HP:0003573Increased total bilirubin
29 HP:0007229Intracerebral periventricular calcifications
30 HP:0006380Knee flexion contracture
31 HP:0001254Lethargy
32 HP:0010511Long toe
33 HP:0008293Long-chain dicarboxylic aciduria
34 HP:0000369Low-set ears
35 HP:0001403Macrovesicular hepatic steatosis
36 HP:0000252Microcephaly
37 HP:0000189Narrow palate
38 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
39 HP:0001958Nonketotic hypoglycemia
40 HP:0001562OligohydramniosHP:0040283
41 HP:0000396Overfolded helix
42 HP:0000113Polycystic kidney dysplasia Congenital onset
43 HP:0002126Polymicrogyria
44 HP:0000358Posteriorly rotated ears
45 HP:0011220Prominent forehead
46 HP:0000083Renal insufficiency
47 HP:0002098Respiratory distress
48 HP:0002878Respiratory failure
49 HP:0002093Respiratory insufficiency
50 HP:0001250Seizures
NAMDC:  Seizures
51 HP:0000340Sloping forehead
52 HP:0001182Tapered finger
53 HP:0011309Tapered toe
54 HP:0000073Ureteral duplication
55 HP:0002119Ventriculomegaly
56 HP:0006610Wide intermamillary distance
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs)1376CPT2Likely pathogenicrs1057517510RCV000411079; RCV000412110; RCV000409552; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153662666536626671:g.53662666_53662667insCCGGGAGCCCCCAGTCGGC-
NM_000098.3(CPT2):c.75del (p.Ser26fs)1376CPT2Likely pathogenicrs1057517493RCV000409757; RCV000410873; RCV000412215; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153662690536626901:g.53662690_53662690del-
NM_000098.3(CPT2):c.95del (p.Gly32fs)1376CPT2Likely pathogenicrs1057517494RCV000411223; RCV000409193; RCV000410121; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153662709536627091:g.53662709_53662709del-
NM_000098.3(CPT2):c.108_109GC[3] (p.Ser38fs)1376CPT2Likely pathogenicrs754363068RCV000410888; RCV000411956; RCV000409793; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153662722536627231:g.53662722_53662723insGC-
NM_000098.3(CPT2):c.149C>A (p.Pro50His)1376CPT2Pathogenicrs28936375RCV000735345; RCV000202440; RCV000009512; RCV000762941; RCV000762941; RCV000009511; RCV000762941; RCV000735345; RCV000735345; RCV000762941; RCV000735345; RCV000735345; RCV000735345; RCV000735345; RCV000735345; RCV000440440; NHuman Phenotype Ontology:HP:0001369,MedGen:C0003864; MedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; 153662764536627641:g.53662764C>AOMIM Allelic Variant:600650.0003,UniProtKB (protein):P23786#VAR_001391C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.234-1G>A1376CPT2Pathogenicrs1557713988RCV000009524; NMedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308153667994536679941:g.53667994G>AOMIM Allelic Variant:600650.0011
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)1376CPT2Conflicting interpretations of pathogenicityrs74315294RCV000202499; RCV000515252; RCV000576571; RCV001004157; RCV000194764; RCV000515252; RCV001004157; RCV000009510; RCV000515252; RCV000515252; RCV000624845; RCV000662284; RCV000185836; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; Med153668099536680991:g.53668099C>THGMD:CM930171,OMIM Allelic Variant:600650.0002,UniProtKB (protein):P23786#VAR_001392C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)1376CPT2Likely pathogenicrs121918528RCV000202546; RCV000009530; RCV000762942; RCV000408956; RCV000762942; RCV000409888; RCV000762942; RCV000762942; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; Med153675705536757051:g.53675705A>GOMIM Allelic Variant:600650.0017C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)1376CPT2Pathogenic/Likely pathogenicrs201065226RCV000707179; RCV000409811; RCV001004158; RCV000410924; RCV001004158; RCV000411770; RCV000185829; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; Med153675716536757161:g.53675716C>T-C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)1376CPT2Uncertain significancers144760921RCV000635359; RCV000763958; RCV000763958; RCV000763958; RCV000763958; RCV000657908; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; MedGen:C3280160,OMIM:614212; MedGen:CN517202153675846536758461:g.53675846G>A-
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter)1376CPT2Likely pathogenicrs755830520RCV000411376; RCV000408985; RCV000410328; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153675952536759521:g.53675952T>A-
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)1376CPT2Pathogenic/Likely pathogenicrs74315298RCV000202466; RCV000576348; RCV000009526; RCV000185840; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:CN517202153676026536760261:g.53676026C>TOMIM Allelic Variant:600650.0013,UniProtKB (protein):P23786#VAR_007967C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.764A>G (p.Asp255Gly)1376CPT2Likely pathogenic-1RCV001030039; NMedGen:C1833518,OMIM:608836, Orphanet:ORPHA22830815367611053676110NC_000001.10:g.53676110A>G-
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)1376CPT2Conflicting interpretations of pathogenicityrs144658100RCV000667275; RCV000763959; RCV000763959; RCV000763959; RCV000763959; RCV000427828; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; MedGen:C3280160,OMIM:614212; MedGen:CN517202153676371536763711:g.53676371T>C-C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1033G>A (p.Gly345Arg)1376CPT2Likely pathogenic-1RCV001030040; NMedGen:C1833518,OMIM:608836, Orphanet:ORPHA22830815367637953676379NC_000001.10:g.53676379G>A-
NM_000098.3(CPT2):c.1046dup (p.Asn349fs)1376CPT2Likely pathogenicrs1057517515RCV000410982; RCV000412442; RCV000409430; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676389536763901:g.53676389_53676390insA-
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter)1376CPT2Likely pathogenicrs761438840RCV000411515; RCV000409099; RCV000409968; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676399536763991:g.53676399G>A-
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)1376CPT2Pathogenic/Likely pathogenicrs74315295RCV000202462; RCV000009517; RCV000762943; RCV001004159; RCV000411002; RCV000762943; RCV001004159; RCV000009518; RCV000762943; RCV000762943; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; Med153676494536764941:g.53676494T>AOMIM Allelic Variant:600650.0007,UniProtKB (protein):P23786#VAR_001396C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)1376CPT2Likely pathogenicrs1057517492RCV000409596; RCV000411103; RCV000411620; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676691536766911:g.53676691C>T-
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter)1376CPT2Pathogenic/Likely pathogenicrs1057517525RCV000801602; RCV000410775; RCV000412327; RCV000409771; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676691536766911:g.53676691_53676692insA-
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs)1376CPT2Likely pathogenicrs1057517507RCV000409126; RCV000410673; RCV000411622; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676703536767061:g.53676703_53676706del-
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)1376CPT2Likely pathogenicrs754386565RCV000411774; RCV000762945; RCV000409790; RCV000762945; RCV000410758; RCV000762945; RCV000762945; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; MedGen:C153676760536767601:g.53676760C>T-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)1376CPT2Uncertain significancers201508063RCV000635370; RCV000669097; RCV000763960; RCV000763960; RCV000763960; RCV000763960; RCV000517111; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; Med153676784536767841:g.53676784G>A-
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala)1376CPT2Uncertain significancers1324631593RCV000635363; RCV000763961; RCV000763961; RCV000763961; RCV000763961; RCV000711321; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; MedGen:C3280160,OMIM:614212; MedGen:CN517202153676794536767941:g.53676794T>C-C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)1376CPT2Uncertain significancers61731996RCV000635366; RCV000763962; RCV000763962; RCV000763962; RCV000763962; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; MedGen:C3280160,OMIM:614212153676823536768231:g.53676823G>A-C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)1376CPT2Likely pathogenicrs74315296RCV000202513; RCV001004160; RCV001004160; RCV000009519; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676853536768531:g.53676853C>TOMIM Allelic Variant:600650.0008,UniProtKB (protein):P23786#VAR_007970C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)1376CPT2Likely pathogenicrs1057517477RCV000411439; RCV000409024; RCV000409947; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676891536768941:g.53676891_53676894del-
NM_000098.3(CPT2):c.1567_1568CA[1] (p.His523fs)1376CPT2Pathogenic/Likely pathogenic-1RCV000781317; RCV001004161; RCV001004161; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA22830815367691353676914NC_000001.10:g.53676913_53676914CA[1]-
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter)1376CPT2Likely pathogenicrs1057517517RCV000409314; RCV000410441; RCV000411274; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676960536769601:g.53676960C>A-
NM_000098.3(CPT2):c.1645+2T>G1376CPT2Likely pathogenicrs1057517473RCV000409646; RCV000410325; RCV000411662; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153676993536769931:g.53676993T>G-
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln)1376CPT2Uncertain significancers199996641RCV000527595; RCV000672447; RCV000763963; RCV000763963; RCV000763963; RCV000763963; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; Med153678969536789691:g.53678969G>A-C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)1376CPT2Likely pathogenicrs767004984RCV000410414; RCV000411459; RCV000409282; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302153679064536790651:g.53679064_53679065del-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000157184 MSeqDR Search EnsemblCPT21132carnitine palmitoyltransferase 2 [Source:HGNC Symbol;Acc:2330]00487

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