| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | GConflicting classifications of pathogenicity; other |
Click to view in NCBI Gene