| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTNNB1, LOC126806659 (V444fs +1 more) | Duplication (frameshift variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | CTNNB1, LOC126806659 (R462H +1 more) | Single nucleotide variant (missense variant) | CTNNB1-related condition +1 more | |
| | CTNNB1, LOC126806659 (M546T +1 more) | Single nucleotide variant (missense variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
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