| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease +3 more | |
| | PLP1, RAB9B (G217D +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | PLP1, RAB9B (E177K +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
Click to view in NCBI Gene