| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability +5 more | |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Microsatellite (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (nonsense) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Microsatellite (inframe_deletion) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more | |
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