| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Deletion (frameshift variant) | Lymphangiomyomatosis | |
| | | Single nucleotide variant (nonsense) | Lymphangiomyomatosis +5 more | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lymphangiomyomatosis +5 more | |
| | | Duplication (frameshift variant) | Tuberous sclerosis 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lymphangiomyomatosis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Lymphangiomyomatosis +6 more | |
| | | Single nucleotide variant (splice donor variant) | Lymphangiomyomatosis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Isolated focal cortical dysplasia type II +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lymphangiomyomatosis +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (nonsense) | Lymphangiomyomatosis +4 more | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II +3 more | |