| | | Duplication | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PLP1, RAB9B (I121V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (G35S +1 more) | Single nucleotide variant (missense variant) | PLP1-related disorder | |
| | | Single nucleotide variant (intron variant) | PLP1-related disorder | |
| | | Duplication | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (synonymous variant) | Pelizaeus-Merzbacher disease | |
| | | Indel (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (L142fs +1 more) | Duplication (frameshift variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (A140D +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (stop lost) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (stop lost) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (L199P +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (S198F +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | RAB9B, PLP1 (L196P +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (G191W +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (F189V +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | RAB9B, PLP1 (A188V +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (A188E +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (intron variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (S171P +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (C165R +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | RAB9B, PLP1 (V164G +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (F160fs +2 more) | Deletion (frameshift variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (L155F +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | RAB9B, PLP1 (Y152H +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (Y152N +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (R150fs +2 more) | Deletion (frameshift variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (P118S +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | | Deletion (frameshift variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (L104P +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (V118fs +2 more) | Deletion (frameshift variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (intron variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (K151N +1 more) | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (intron variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (K144* +1 more) | Single nucleotide variant (nonsense +1 more) | Pelizaeus-Merzbacher disease | |
| | | Deletion (inframe_deletion +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (V138fs +1 more) | Deletion (frameshift variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (Q129* +1 more) | Single nucleotide variant (nonsense +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (S126F +1 more) | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (G120fs +1 more) | Deletion (frameshift variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (T116K +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (G40fs +1 more) | Deletion (frameshift variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (L32P +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (L30R +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (L26R +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (S22Y +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (nonsense +1 more) | Pelizaeus-Merzbacher disease | |
| | | Duplication (inframe_insertion) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (T20P +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (G19E +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | RAB9B, PLP1 (V16D +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | RAB9B, PLP1 (Q14L +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (intron variant) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (I17L +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (Q130fs +2 more) | Deletion (frameshift variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (E136fs +1 more) | Deletion (frameshift variant +1 more) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (R127fs +1 more) | Deletion (frameshift variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Duplication | Hereditary spastic paraplegia 2 | |
| | | Duplication | Hereditary spastic paraplegia 2 | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | PLP1, RAB9B (A41T +1 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (V138A +1 more) | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease +1 more | |
| | PLP1, RAB9B (E177K +2 more) | Single nucleotide variant (missense variant) | Pelizaeus-Merzbacher disease | |
| | PLP1, RAB9B (G153V +2 more) | Single nucleotide variant (missense variant) | Auditory neuropathy spectrum disorder | |
| | PLP1, RAB9B (H133L +1 more) | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease +1 more | |
| | | Single nucleotide variant (intron variant) | PLP1-related disorder | |
| | PLP1, RAB9B (P118T +2 more) | Single nucleotide variant (missense variant) | PLP1-related disorder | |
| | | Single nucleotide variant (intron variant) | PLP1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Pelizaeus-Merzbacher disease | |
| | | Copy number gain | not provided | |
| | | 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 | |