| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Deletion (frameshift variant) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (splice acceptor variant) | Tuberous sclerosis 2 | |
| | | Duplication (frameshift variant) | Tuberous sclerosis 2 | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene