| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 10B | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 10A (Zellweger) | |
| | | Copy number loss | not provided | |
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