| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Severe intellectual disability-progressive spastic diplegia syndrome +1 more | |
| | CTNNB1, LOC126806659 (Q531* +1 more) | Single nucleotide variant (nonsense) | Severe intellectual disability-progressive spastic diplegia syndrome | |
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