| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_indel) | Isolated focal cortical dysplasia type II +2 more | |
Click to view in NCBI Gene