| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | PLP1, RAB9B (Y27C +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pelizaeus-Merzbacher disease +1 more | GConflicting classifications of pathogenicity |
| | PLP1, RAB9B (H148Y +1 more) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +5 more | |
| | PLP1, RAB9B (L200F +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
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