| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Tuberous sclerosis 1 | |
| | | Deletion (frameshift variant) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 +4 more | |
Click to view in NCBI Gene