| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis | |
| | | Microsatellite (frameshift variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis | |
| | | Indel (5 prime UTR variant +2 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +2 more | |
| | | Duplication (frameshift variant) | Nephronophthisis 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | TTC21B-AS1, TTC21B (L223V) | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | TTC21B, TTC21B-AS1 (P209L) | Single nucleotide variant (missense variant) | TTC21B-related disorder +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Nephronophthisis +2 more | |
| | | Deletion (frameshift variant +2 more) | Senior-Loken syndrome 5 | |
| | NPHP3, NPHP3-ACAD11 (P643L) | Single nucleotide variant (missense variant) | Nephronophthisis 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Deletion (frameshift variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 17 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome and related disorders +5 more | |
| | | Deletion (splice donor variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Mitochondrial oxidative phosphorylation disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +2 more) | Nephronophthisis | |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 15 +1 more | |
| | | Microsatellite (frameshift variant) | Joubert syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | IFT140, LOC105371046 (G212R) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | MKKS-related disorder +6 more | |
| | | Deletion | Nephronophthisis | |