| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | LOC126861244, CPT1A (D433fs) | Deletion (frameshift variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | CPT1A, LOC126861244 (E425del) | Microsatellite (inframe_deletion) | Carnitine palmitoyl transferase 1A deficiency | |
Click to view in NCBI Gene