| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | PURA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PURA-related disorder +1 more | |
| | | Microsatellite (inframe_insertion) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +3 more | |
| | | Deletion (inframe deletion) | PURA-related disorder | |
| | | Single nucleotide variant (missense variant) | PURA-related disorder | |
| | | Microsatellite (frameshift variant) | PURA-related disorder | |
| | | Single nucleotide variant (nonsense) | Abnormality of the nervous system +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PURA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
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