| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CPT1A, LOC126861244 (R447Q) | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency +1 more | GConflicting classifications of pathogenicity |
| | CPT1A, LOC126861244 (R401C) | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency +1 more | |
| | CPT1A, LOC126861244 (A397T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CPT1A, LOC126861244 (R395P) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
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