| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (nonsense +2 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration +4 more | |
| | MIR103A2, MIR103B2
+1 more (T237M +2 more) | Single nucleotide variant (missense variant +1 more) | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration +3 more | |
| | | Copy number loss | Pigmentary pallidal degeneration | |
Click to view in NCBI Gene