| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AP4B1, AP4B1-AS1 (R393* +2 more) | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (T219fs +2 more) | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
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