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Gene entry

CPT2

carnitine palmitoyltransferase 2

Chromosome
1
Cytoband
1p32.3
Variants (rsID)
33

CPT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p32.3). Its official name is “carnitine palmitoyltransferase 2”. The reference table lists 33 variants (rsID) for this gene.

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Clinically classified variants

28 reference-table entries with clinical significance.

  • rs140853350Benignsingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs1799821Benignsingle nucleotide variantCarnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form
  • rs1871748Benignsingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs2229291Benignsingle nucleotide variantCarnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form
  • rs142790440Conflicting interpretationssingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs148035648Conflicting interpretationssingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs17848485Conflicting interpretationssingle nucleotide variantCarnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency
  • rs373638740Conflicting interpretationssingle nucleotide variantCarnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency
  • rs74315294Conflicting interpretationssingle nucleotide variantCarnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Rhabdomyolysis|Inborn genetic diseases|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Abnormality of the musculature
  • rs74315297Conflicting interpretationssingle nucleotide variantCarnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form
  • rs74315296Likely pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form
  • rs121918528Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form
  • rs201065226Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form
  • rs28936375Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|8 conditions|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form
  • rs28936673Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form
  • rs28936674Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency
  • rs368311455Pathogenicsingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs397509431PathogenicDeletionCarnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form
  • rs515726177Pathogenicsingle nucleotide variantCarnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form
  • rs74315293Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form
  • rs74315295Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Seizure|Abnormality of the nervous system
  • rs74315298Pathogenicsingle nucleotide variantCarnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form
  • rs151003641Uncertain significancesingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs186044004Uncertain significancesingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs28936376Uncertain significancesingle nucleotide variantCarnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form
  • rs515726174Not classifiedsingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs515726175Not classifiedsingle nucleotide variantCarnitine palmitoyltransferase II deficiency
  • rs515726176Not classifiedsingle nucleotide variantCarnitine palmitoyltransferase II deficiency

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.