| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair | |
| | | Deletion (frameshift variant) | Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair | |
| | | Single nucleotide variant (nonsense) | Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair | |
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