| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CPT1A, LOC126861244 (V418M) | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyl transferase 1A deficiency | |
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