| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AP4B1, AP4B1-AS1 (R107* +1 more) | Single nucleotide variant (nonsense +2 more) | Hereditary spastic paraplegia 47 | |
| | | Deletion (intron variant +1 more) | not provided | |
Click to view in NCBI Gene