| | NPHP3-ACAD11, UBA5 (D128H +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | NPHP3-ACAD11, UBA5 (N174S +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | NPHP3-ACAD11, NPHP3 (F1324S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (G1299D) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +4 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (R1255W) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +5 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (R1167H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (R1094Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +5 more | |
| | NPHP3, NPHP3-ACAD11 (A1011V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +5 more | |
| | NPHP3, NPHP3-ACAD11 (W998R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NPHP3, NPHP3-ACAD11 (G719S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +6 more | |
| | NPHP3, NPHP3-ACAD11 (D315V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +4 more | |
| | NPHP3, NPHP3-ACAD11 (P256R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC129937586, NPHP3
+2 more (E83K) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC129937586, NPHP3
+2 more (L70P) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis 3 +4 more | |