| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Lymphangiomyomatosis +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 2 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
Click to view in NCBI Gene