| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | SPART-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Troyer syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Troyer syndrome | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene