| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PLP1, RAB9B (H148Y +1 more) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia +2 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | Klinefelter syndrome | |
Click to view in NCBI Gene