| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTNNB1, LOC126806658 (M182fs +1 more) | Duplication (frameshift variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Deletion (frameshift variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Duplication (nonsense) | CTNNB1-related disorder +2 more | |
| | | Single nucleotide variant (nonsense) | Severe intellectual disability-progressive spastic diplegia syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene