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