| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AP4B1, AP4B1-AS1 (V252A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia +5 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant +1 more) | Hereditary spastic paraplegia 47 | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary spastic paraplegia 47 | |
Click to view in NCBI Gene