| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant spastic paraplegia type 9 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +3 more | |
Click to view in NCBI Gene