Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Basal cell nevus syndrome 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 32 +3 more | |
| | LOC130004614, SUFU (P24fs) | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene