| | | Single nucleotide variant (nonsense +1 more) | Senior-Loken syndrome 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | NPHP3, NPHP3-ACAD11 (G1275del) | Microsatellite (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +3 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (R702*) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | not provided +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (splice donor variant) | GLIS2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified +7 more | |
| | | Deletion | Nephronophthisis | |