| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126860125, AP1S1 (Q74*) | Single nucleotide variant (nonsense) | MEDNIK syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | MEDNIK syndrome +1 more | |
Click to view in NCBI Gene