| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Microsatellite (frameshift variant +2 more) | Tuberous sclerosis 1 | |
Click to view in NCBI Gene