| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129994826, PURA (K144E) | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more | |
| | | Microsatellite (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
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