| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | SMARCC2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SMARCC2-related BAFopathy | |
| | | Microsatellite (nonsense) | SMARCC2-related BAFopathy | |
| | | Deletion (frameshift variant) | SMARCC2-related BAFopathy | |
Click to view in NCBI Gene