| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTNNB1, LOC126806658 (R95* +1 more) | Single nucleotide variant (nonsense) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (splice donor variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | CTNNB1, LOC126806659 (Q388* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | CTNNB1, LOC126806659 (R535* +1 more) | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Deletion (frameshift variant) | Exudative vitreoretinopathy 7 | |
| | | Single nucleotide variant (nonsense) | Severe intellectual disability-progressive spastic diplegia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
Click to view in NCBI Gene