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