| | | Single nucleotide variant (intron variant) | Tuberous sclerosis syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis 1 | |
| | | Deletion (frameshift variant) | not provided +5 more | |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Indel (nonsense) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 +5 more | |
| | | Single nucleotide variant (splice donor variant) | Tuberous sclerosis 1 +1 more | |
| | | Microsatellite (frameshift variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Deletion (frameshift variant) | Tuberous sclerosis 1 | |
| | | Microsatellite (frameshift variant) | Tuberous sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II +6 more | |
| | | Duplication (frameshift variant) | Cortical dysplasia +5 more | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Tuberous sclerosis 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Tuberous sclerosis 1 | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant +3 more) | Tuberous sclerosis 1 | |
| | | Deletion (frameshift variant +3 more) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (nonsense +3 more) | Tuberous sclerosis 1 | |