| | | Single nucleotide variant (synonymous 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 | GPathogenic/Likely pathogenic |
| | CPT1A, LOC126861244 (R447Q) | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency +2 more | GConflicting classifications of pathogenicity |