| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AP4B1, AP4B1-AS1 (R406* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 47 +2 more | GPathogenic/Likely pathogenic |
| | AP4B1, AP4B1-AS1 (T219fs +2 more) | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene