| | | Single nucleotide variant (missense variant +3 more) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant +3 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (nonsense +2 more) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant +2 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +2 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (nonsense +2 more) | Tuberous sclerosis syndrome | |
| | | Duplication (frameshift variant +2 more) | Tuberous sclerosis syndrome | |
| | | Duplication (frameshift variant +2 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +2 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +2 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +2 more) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant +2 more) | not provided +4 more | |
| | | Microsatellite (splice donor variant +1 more) | Tuberous sclerosis 2 +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Tuberous sclerosis 2 | |
| | | Deletion (splice donor variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (splice donor variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis 2 +2 more | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis 2 +2 more | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tuberous sclerosis syndrome +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (splice donor variant) | Tuberous sclerosis syndrome | |
| | | Microsatellite (intron variant) | Tuberous sclerosis syndrome | |
| | | Deletion (intron variant) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | |
| | | Duplication (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis 2 +4 more | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Duplication (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis 2 +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Tuberous sclerosis syndrome | |
| | | Indel (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis syndrome | |
| | | Duplication (splice donor variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Tuberous sclerosis 2 +1 more | |
| | | Single nucleotide variant (splice donor variant +3 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Duplication (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Deletion (nonsense +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Duplication (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Duplication (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Tuberous sclerosis syndrome | |