| | | Single nucleotide variant (nonsense +1 more) | Lymphangiomyomatosis | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Lymphangiomyomatosis | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Duplication (frameshift variant) | Lymphangiomyomatosis | |
| | | Deletion (intron variant) | Tuberous sclerosis 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Deletion (nonsense) | Tuberous sclerosis 2 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Tuberous sclerosis 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Lymphangiomyomatosis +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Lymphangiomyomatosis +2 more | |
| | | Single nucleotide variant (missense variant) | Lymphangiomyomatosis | |
| | | Deletion (frameshift variant) | Tuberous sclerosis 2 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Infantile spasms +3 more | |
| | | Single nucleotide variant (intron variant) | Lymphangiomyomatosis | |
| | | Single nucleotide variant (missense variant) | Tall stature +7 more | |
| | | Single nucleotide variant (missense variant) | Lymphangiomyomatosis +5 more | |