| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP3-ACAD11, UBA5 (A11fs +3 more) | Insertion (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | NPHP3-ACAD11, UBA5 (K159N +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | UBA5, NPHP3-ACAD11 (A371T +3 more) | Single nucleotide variant (missense variant) | UBA5-related disorder +4 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
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