| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTNNB1, LOC126806659 (E472fs +1 more) | Insertion (frameshift variant) | Severe intellectual disability-progressive spastic diplegia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (nonsense) | Exudative vitreoretinopathy 7 +1 more | |
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