| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (splice donor variant) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant) | Tuberous sclerosis 2 | |
| | | Deletion (inframe_deletion +1 more) | Tuberous sclerosis 2 | |
| | PKD1, TSC2 (L3952P +1 more) | Single nucleotide variant (missense variant) | Lymphangiomyomatosis +2 more | |
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