| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | PLP1, RAB9B (Y58C +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | GPathogenic/Likely pathogenic |
| | RAB9B, PLP1 (A193E +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
Click to view in NCBI Gene