| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PLP1, RAB9B (R82Q +1 more) | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (splice donor variant) | Pelizaeus-Merzbacher disease | |
Click to view in NCBI Gene