| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTNNB1, LOC126806659 (R474* +1 more) | Single nucleotide variant (nonsense) | Microcephalic primordial dwarfism, Alazami type +11 more | |
| | | Deletion (splice donor variant) | Microcephalic primordial dwarfism, Alazami type | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene