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