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