| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (splice donor variant) | Hereditary spastic paraplegia 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary spastic paraplegia +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene