| | | Single nucleotide variant (splice donor variant +1 more) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (C125Y +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 +1 more | |
| | UBA5, NPHP3-ACAD11 (I41T +1 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (R38G +1 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (Q13fs) | Deletion (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 44 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Developmental and epileptic encephalopathy, 44 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 44 +1 more | |
| | NPHP3-ACAD11, UBA5 (D11Y +1 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (L142P +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | |
| | ACAD11, NPHP3-ACAD11 +1 more (E13*) | Single nucleotide variant (5 prime UTR variant +3 more) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (V154M +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 +1 more | |
| | LOC129937585, NPHP3-ACAD11 +1 more (S54fs) | Duplication (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (R16H +1 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 44 +1 more | GConflicting classifications of pathogenicity |
| | NPHP3-ACAD11, UBA5 (C303R +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 44 +1 more | |
| | NPHP3-ACAD11, UBA5 (D304N +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 +1 more | GConflicting classifications of pathogenicity |
| | NPHP3-ACAD11, UBA5 (M57V +1 more) | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 44 +1 more | GConflicting classifications of pathogenicity |
| | NPHP3-ACAD11, UBA5 (G168E +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (D389Y +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (V260M +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (K212fs +3 more) | Insertion (frameshift variant) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (Q302* +3 more) | Single nucleotide variant (nonsense) | UBA5-related disorder | |
| | NPHP3-ACAD11, UBA5 (R188* +3 more) | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | UBA5, NPHP3-ACAD11 (R61* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | UBA5, NPHP3-ACAD11 (Y285* +3 more) | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 44 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | NPHP3-ACAD11, UBA5 (A371T +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +4 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |