| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, neonatal form | |
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