| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 30 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 9 +2 more | |
Click to view in NCBI Gene