| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP3-ACAD11, UBA5 (R188* +3 more) | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | NPHP3-ACAD11, UBA5 (C303R +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | GConflicting classifications of pathogenicity |
| | NPHP3-ACAD11, UBA5 (A371T +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 +4 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
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