| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +3 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Tuberous sclerosis 2 | |
| | | Duplication (frameshift variant +2 more) | Tuberous sclerosis 2 | |
| | | Duplication (frameshift variant +1 more) | Tuberous sclerosis 2 | |
Click to view in NCBI Gene