| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | SMARCC1-associated developmental dysgenesis syndrome | |
| | | Deletion (frameshift variant) | SMARCC1-associated developmental dysgenesis syndrome | |
| | | Copy number gain | not provided | |
| | | Deletion | SMARCC1-associated developmental dysgenesis syndrome | |
| | | Deletion | SMARCC1-associated developmental dysgenesis syndrome | |
Click to view in NCBI Gene