| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant) | TSC2-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant) | TSC2-related condition +6 more | |
| | | Microsatellite (inframe_deletion) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | TSC2-related condition +5 more | |
| | | Deletion (inframe_deletion) | Tuberous sclerosis syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene