| | NPHP3-ACAD11, UBA5 (Y12* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | NPHP3-ACAD11, UBA5 (P140R +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | NPHP3-ACAD11, UBA5 (K204E +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | NPHP3-ACAD11, UBA5 (A371T +3 more) | Single nucleotide variant (missense variant) | UBA5-related disorder +4 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | NPHP3, NPHP3-ACAD11 (N1322del) | Deletion (non-coding transcript variant +1 more) | Nephronophthisis +1 more | |
| | NPHP3, NPHP3-ACAD11 (G1020A) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +1 more | |
| | NPHP3, NPHP3-ACAD11 (V996M) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +5 more | |
| | NPHP3, NPHP3-ACAD11 (M918V) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +1 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (I618T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (E435del) | Deletion (non-coding transcript variant +1 more) | Joubert syndrome and related disorders +5 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (R392*) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis 3 +4 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (L362S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC129937586, NPHP3
+2 more (Y20*) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +1 more | |