| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PLP1, RAB9B (A140D +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (Y208* +2 more) | Single nucleotide variant (nonsense) | Pelizaeus-Merzbacher disease +1 more | |
Click to view in NCBI Gene