| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | NPHP3-ACAD11, UBA5 (M57V +1 more) | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 44 +1 more | GConflicting classifications of pathogenicity |
| | UBA5, NPHP3-ACAD11 (R61* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | NPHP3-ACAD11, UBA5 (G168E +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (R188* +3 more) | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | NPHP3-ACAD11, UBA5 (R246* +3 more) | Single nucleotide variant (nonsense) | Spinocerebellar ataxia, autosomal recessive 24 | |
| | NPHP3-ACAD11, UBA5 (V260M +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | |
| | UBA5, NPHP3-ACAD11 (Y285* +3 more) | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (Q302* +3 more) | Single nucleotide variant (nonsense) | UBA5-related condition | |
| | UBA5, NPHP3-ACAD11 (K310E +3 more) | Single nucleotide variant (missense variant) | Spinocerebellar ataxia, autosomal recessive 24 | |
| | NPHP3-ACAD11, UBA5 (K212fs +3 more) | Insertion (frameshift variant) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3-ACAD11, UBA5 (A371T +3 more) | Single nucleotide variant (missense variant) | UBA5-Related Disorders +5 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | NPHP3-ACAD11, UBA5 (D389Y +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3, NPHP3-ACAD11 (G1275del) | Microsatellite (non-coding transcript variant +1 more) | Nephronophthisis +3 more | GPathogenic/Likely pathogenic |
| | NPHP3-ACAD11, NPHP3 (Q1114*) | Single nucleotide variant (non-coding transcript variant +1 more) | Renal-hepatic-pancreatic dysplasia 1 | |
| | NPHP3, NPHP3-ACAD11 (R973Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Renal-hepatic-pancreatic dysplasia 1 | |
| | | Deletion (splice acceptor variant) | Nephronophthisis 3 +5 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (R702*) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +5 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +1 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (R577*) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +1 more | |
| | NPHP3, NPHP3-ACAD11 (E461*) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +4 more | |
| | NPHP3-ACAD11, NPHP3 (S360T) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis 3 | |