| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| PLP1 | 300401 | 312080 | Xq22 | DUP | 0021 | PELIZAEUS-MERZBACHER DISEASE | 1 |
| PLP1 | 300401 | 312080 | Xq22 | GLY127GLY | | PELIZAEUS-MERZBACHER DISEASE | 1 |
| PLP1 | 300401 | 312080 | Xq22 | PARTIAL DEL EX 3 AND 4 | | PELIZAEUS-MERZBACHER DISEASE | 1 |
| PLP1 | 300401 | 312080 | Xq22 | PRO14LEU | 0003 | PELIZAEUS-MERZBACHER DISEASE | 1 |
| PLP1 | 300401 | 312080 | Xq22 | PRO215SER | 0001 | PELIZAEUS-MERZBACHER DISEASE | 3 |
| PLP1 | 300401 | 312080 | Xq22 | THR115LYS | | PELIZAEUS-MERZBACHER DISEASE | 1 |
| PLP1 | 300401 | 312080 | Xq22 | THR42ILE | 0014 | PELIZAEUS-MERZBACHER DISEASE | 1 |
| PLP1 | 300401 | 312080 | Xq22 | TRP162ARG | 0002 | PELIZAEUS-MERZBACHER DISEASE | 1 |