| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AP4B1, AP4B1-AS1 (R525G +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1-AS1, AP4B1 (R514* +2 more) | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 47 | GPathogenic/Likely pathogenic |
| | AP4B1, AP4B1-AS1 (Y332C +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (A321G +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (R224H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 47 | |
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