MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
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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 pathogenicrs1057517510RCV000409552|RCV000411079|RCV000412110; NMONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815366266653662667TTCCGGGAGCCCCCAGTCGGCNC_000001.10:g.53662669_53662687dupClinGen:CA16040760C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.75del (p.Ser26fs)1376CPT2Pathogenic/Likely pathogenicrs1057517493RCV000409757|RCV000412215|RCV000410873|RCV001861402; NMONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:15715366269053662690TCTNC_000001.10:g.53662690delClinGen:CA16040761C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.95del (p.Gly32fs)1376CPT2Likely pathogenicrs1057517494RCV000409193|RCV000411223|RCV000410121; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:22830215366270953662709CGCNC_000001.10:g.53662710delClinGen:CA16040762C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)1376CPT2Pathogenic/Likely pathogenicrs754363068RCV000410888|RCV000409793|RCV000411956|RCV001570857|RCV001042031; NMONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MedGen:CN517202|MONDO:MONDO:0015515,MedGen:C034215366272253662723AAGCNC_000001.10:g.53662723GC[3]ClinGen:CA858892C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.152+56C>A1376CPT2Benign-1RCV001533750|RCV001533751|RCV001712980; NMONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MedGen:CN51720215366282353662823CA53662823-
NM_000098.3(CPT2):c.234-1G>A1376CPT2Pathogenicrs1557713988RCV000009524; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815366799453667994GANC_000001.10:g.53667994G>AOMIM:600650.0011
NM_000098.3(CPT2):c.251G>A (p.Cys84Tyr)1376CPT2Likely pathogenicrs909671156RCV001281245; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815366801253668012GA53668012-
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)1376CPT2Conflicting interpretations of pathogenicityrs74315294RCV000009510|RCV000194764|RCV000202499|RCV000185836|RCV000576571|RCV000515252|RCV000624845|RCV001004157|RCV000662284|RCV001813968; NMONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MedGen:CN517202|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:60064915366809953668099CT1:g.53668099C>TClinGen:CA254605,UniProtKB:P23786#VAR_001392,OMIM:600650.0002C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.341-155T>C1376CPT2Benignrs12737375RCV000840008|RCV001533570|RCV001533752; NMedGen:CN517202|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:22830515367553253675532TC1:g.53675532T>C-
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)1376CPT2Pathogenic/Likely pathogenicrs121918528RCV000009530|RCV000409888|RCV000202546|RCV000408956|RCV000762942|RCV001781212; NMONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367570553675705AG1:g.53675705A>GClinGen:CA254616,OMIM:600650.0017C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)1376CPT2Pathogenic/Likely pathogenicrs201065226RCV000185829|RCV000409811|RCV000410924|RCV000411770|RCV000707179|RCV001004158; NMedGen:CN517202|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0015515,MedGen:C034215367571653675716CT1:g.53675716C>TClinGen:CA312422C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)1376CPT2Uncertain significancers144760921RCV000635359|RCV000763958|RCV000657908; NMONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302; MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212, Orphanet:26352415367584653675846GANC_000001.10:g.53675846G>AClinGen:CA858998C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter)1376CPT2Likely pathogenicrs755830520RCV000410328|RCV000408985|RCV000411376; NMONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:22830515367595253675952TANC_000001.10:g.53675952T>AClinGen:CA16040763C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.674G>A (p.Arg225His)1376CPT2Uncertain significancers794727616RCV000178041|RCV001563783|RCV001563784|RCV001563785|RCV001852205; NMedGen:CN517202|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0015515,MedGen:C034215367602053676020GA1:g.53676020G>AClinGen:CA245064CN169374 not specified;
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)1376CPT2Pathogenicrs74315298RCV000009526|RCV000202466|RCV000185840|RCV000576348; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MedGen:CN517202|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:22830515367602653676026CT1:g.53676026C>TClinGen:CA254612,UniProtKB:P23786#VAR_007967,OMIM:600650.0013C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.764A>G (p.Asp255Gly)1376CPT2Likely pathogenicrs199673903RCV001030039; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367611053676110AG1:g.53676110A>G-
NM_000098.3(CPT2):c.863del (p.Leu288fs)1376CPT2not providedrs1645416571RCV001175272; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367620953676209CTC1:g.53676209_53676209del-
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)1376CPT2Conflicting interpretations of pathogenicityrs145237292RCV000635371|RCV001563781|RCV001563780|RCV001563782|RCV001584466; NMONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:22830215367622353676223AG1:g.53676223A>GClinGen:CA859067C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)1376CPT2Conflicting interpretations of pathogenicityrs764849762RCV001208697|RCV001780119|RCV001810496; NMONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MedGen:CN517202|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305; MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302; MONDO:MONDO:0012136,MedGen:C1833518,OMIM:60883615367623353676233GA1:g.53676233G>A-
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)1376CPT2Conflicting interpretations of pathogenicityrs144658100RCV000427828|RCV000667275|RCV000763959|RCV001079544; NMedGen:CN517202|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212, Orphanet:263524; MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600615367637153676371TC1:g.53676371T>CClinGen:CA859108C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1033G>A (p.Gly345Arg)1376CPT2Likely pathogenicrs771214714RCV001030040; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367637953676379GA1:g.53676379G>A-
NM_000098.3(CPT2):c.1046dup (p.Asn349fs)1376CPT2Likely pathogenicrs1057517515RCV000409430|RCV000410982|RCV000412442; NMONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367638953676390CCANC_000001.10:g.53676392dupClinGen:CA16040764C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter)1376CPT2Likely pathogenicrs761438840RCV000409099|RCV000409968|RCV000411515; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:22830515367639953676399GANC_000001.10:g.53676399G>AClinGen:CA859114C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)1376CPT2Benign/Likely benignrs2229291RCV000078115|RCV000202443|RCV000444353|RCV000578014; NMedGen:CN169374|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MedGen:CN517202|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:22830515367640153676401TG1:g.53676401T>GClinGen:CA145733,UniProtKB:P23786#VAR_001394,OMIM:600650.0018,ClinVar:30118C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)1376CPT2Benignrs1799821RCV000078116|RCV000202483|RCV000711317|RCV001533571|RCV001533572; NMedGen:CN169374|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MedGen:CN517202|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367644853676448GA1:g.53676448G>AClinGen:CA285313,UniProtKB:P23786#VAR_001395,OMIM:600650.0018,ClinVar:30118C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)1376CPT2Pathogenic/Likely pathogenicrs74315295RCV000009518|RCV000009517|RCV000202462|RCV000411002|RCV000762943|RCV001004159|RCV001270097; NMONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367649453676494TA1:g.53676494T>AClinGen:CA254610,UniProtKB:P23786#VAR_001396,OMIM:600650.0007C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)1376CPT2Conflicting interpretations of pathogenicity; otherrs74315297RCV000178040|RCV000202478|RCV000430397|RCV001810398; NMedGen:CN517202|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MedGen:CN169374|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302; MONDO:MONDO:0010914,MedGen:C18315367668853676688TC1:g.53676688T>CClinGen:CA245063,UniProtKB:P23786#VAR_007968,OMIM:600650.0009,ClinVar:60702C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)1376CPT2Pathogenic/Likely pathogenicrs1057517492RCV000409596|RCV000411103|RCV000411620|RCV002058839; NMONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MedGen:CN51720215367669153676691CTNC_000001.10:g.53676691C>TClinGen:CA16040765C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter)1376CPT2Pathogenic/Likely pathogenicrs1057517525RCV000410775|RCV000409771|RCV000412327|RCV000801602; NMONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:15715367669153676691CTANC_000001.10:g.53676691delinsTAClinGen:CA16040766C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs)1376CPT2Likely pathogenicrs1057517507RCV000409126|RCV000410673|RCV000411622; NMONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:22830215367670353676706CAAAGCNC_000001.10:g.53676705_53676708delClinGen:CA16040767C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)1376CPT2Likely pathogenicrs754386565RCV000410758|RCV000409790|RCV000411774|RCV000762945; NMONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212,15367676053676760CT1:g.53676760C>TClinGen:CA859195C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)1376CPT2Conflicting interpretations of pathogenicityrs749895856RCV000626609|RCV000711320|RCV000696870|RCV001196658|RCV001731819; N7 conditions|MedGen:CN517202|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MedGen:CN16937415367678253676782ATNC_000001.10:g.53676782A>TClinGen:CA859201C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)1376CPT2Uncertain significancers201508063RCV000517111|RCV000635370|RCV000763960|RCV000669097; NMedGen:CN169374|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212, Orphanet:263524; MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302; MONDO:MONDO:0012136,MedGen:C1833518,OMIM:60883615367678453676784GANC_000001.10:g.53676784G>AClinGen:CA859203C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala)1376CPT2Uncertain significancers1324631593RCV000635363|RCV000711321|RCV000763961; NMONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MedGen:CN517202|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302; MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0013633,MedGen:C3280160,OMIM:61421215367679453676794TC1:g.53676794T>CClinGen:CA340395928C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1459G>T (p.Glu487Ter)1376CPT2Pathogenicrs778743524RCV001281244; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367680553676805GT53676805-
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)1376CPT2Conflicting interpretations of pathogenicityrs61731996RCV000635366|RCV000763962|RCV001561366; NMONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305; MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:22830215367682353676823GA1:g.53676823G>AClinGen:CA859213C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)1376CPT2Likely pathogenicrs74315296RCV000009519|RCV000202513|RCV001004160; NMONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:22830515367685353676853CT1:g.53676853C>TClinGen:CA120021,UniProtKB:P23786#VAR_007970,OMIM:600650.0008C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)1376CPT2Likely pathogenicrs1057517477RCV000409024|RCV000409947|RCV000411439; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:22830515367689153676894CCTTTCNC_000001.10:g.53676891_53676894delClinGen:CA16040768C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)1376CPT2Pathogenic/Likely pathogenicrs1572385947RCV000781317|RCV001004161; NMONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305; MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367691353676914GCAG1:g.53676913_53676914del-
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter)1376CPT2Likely pathogenicrs1057517517RCV000410441|RCV000409314|RCV000411274; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:22830215367696053676960CANC_000001.10:g.53676960C>AClinGen:CA16040769C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1645+2T>G1376CPT2Likely pathogenicrs1057517473RCV000410325|RCV000409646|RCV000411662; NMONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:22830215367699353676993TGNC_000001.10:g.53676993T>GClinGen:CA16040770C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln)1376CPT2Uncertain significancers199996641RCV000527595|RCV000763963|RCV000672447; NMONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0013633,MedGen:C3280160,OMIM:614212, Orphanet:263524; MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305; MONDO:MONDO:15367896953678969GA1:g.53678969G>AClinGen:CA859262C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)1376CPT2Likely pathogenicrs767004984RCV000410414|RCV000409282|RCV000411459; NMONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704,MedGen:C1833508,OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367906453679065ACTANC_000001.10:g.53679064_53679065delClinGen:CA859274C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)1376CPT2Conflicting interpretations of pathogenicityrs147953465RCV000596578|RCV001082115|RCV001264437|RCV001449948; NMedGen:CN517202|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MedGen:CN169374|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:22830815367909653679096TCNC_000001.10:g.53679096T>CClinGen:CA859285C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.3(CPT2):c.1939A>G (p.Met647Val)1376CPT2Benignrs1799822RCV000078120|RCV000202533|RCV000578093|RCV000986323|RCV001533573|RCV001811357; NMedGen:CN169374|MONDO:MONDO:0015515,MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136,MedGen:C1833518,OMIM:608836, Orphanet:228308; MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:228305|MONDO:MONDO:0010914,MedGen:C1833511,OMIM:600649, Orphanet:22815367922953679229AG1:g.53679229A>GClinGen:CA285315,UniProtKB:P23786#VAR_001400C0342790 Carnitine palmitoyltransferase II deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000157184 MSeqDR Search EnsemblCPT21145carnitine palmitoyltransferase 2 [Source:HGNC Symbol;Acc:2330]00487

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