| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CPT1A, LOC126861244 (E412K) | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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