| | PLP1, RAB9B (V138A +1 more) | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease +1 more | |
| | PLP1, RAB9B (H133L +1 more) | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (F178C +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (G28E +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Duplication (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Deletion (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | PLP1-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (Q121* +1 more) | Single nucleotide variant (nonsense +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (E81* +1 more) | Single nucleotide variant (nonsense +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (T256P +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (D148G +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (S161G +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (G154S +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (Y60fs +1 more) | Duplication (frameshift variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (Q14P +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (Y208* +2 more) | Single nucleotide variant (nonsense) | Pelizaeus-Merzbacher disease +1 more | |
| | | Deletion | Hereditary spastic paraplegia 2 | |
| | | Duplication | Hereditary spastic paraplegia 2 | |
| | | Deletion | Hereditary spastic paraplegia 2 | |
| | | Deletion | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (F178S +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary spastic paraplegia 2 | |
| | RAB9B, PLP1 (L190P +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (L169F +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (P149L +1 more) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (A160V +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (G246R +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (I172N +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (H130N +1 more) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (A140S +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (N223K +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (I142fs +2 more) | Duplication (frameshift variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (W128C +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | PLP1, RAB9B (T158N +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |