| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Lymphangiomyomatosis +5 more | |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 +2 more | |
| | | Deletion (frameshift variant) | Lymphangiomyomatosis | |
| | | Deletion (frameshift variant) | Lymphangiomyomatosis | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Lymphangiomyomatosis +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +5 more | |
| | | Deletion (frameshift variant) | Cortical tubers +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Astrocytoma +2 more | |
| | | Copy number gain | Seizure +2 more | |
Click to view in NCBI Gene