Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Cortical tubers +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Deletion (frameshift variant) | Cortical tubers +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Lymphangiomyomatosis +5 more | |
Click to view in NCBI Gene