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