| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy +1 more | |
| | TTC21B, TTC21B-AS1 (T154fs) | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +1 more | |
| | | Deletion (frameshift variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Nephronophthisis +1 more | |
| | | Duplication (frameshift variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Microsatellite (frameshift variant) | Nephronophthisis +1 more | |
| | | Deletion (frameshift variant) | Nephronophthisis +1 more | |
| | | Deletion | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Microsatellite (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Duplication (frameshift variant) | Nephronophthisis +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | TTC21B, TTC21B-AS1 (H145fs) | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +1 more | |
| | | Microsatellite (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Jeune thoracic dystrophy +1 more | |
| | | Insertion (frameshift variant) | Nephronophthisis +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Duplication | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Asphyxiating thoracic dystrophy 4 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy +1 more | |
| | | Duplication (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Duplication (frameshift variant) | Jeune thoracic dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Duplication (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis +1 more | |
| | | Duplication (splice acceptor variant) | Jeune thoracic dystrophy +3 more | |
| | | Single nucleotide variant (splice donor variant) | Jeune thoracic dystrophy +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy +3 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis 12 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +4 more | |
| | | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 12 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +3 more | |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis +1 more | |
| | | Duplication (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber-like syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +4 more | |
| | | Deletion (frameshift variant) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | TTC21B-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 28 +7 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 4 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 4 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +7 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +4 more | |
| | TTC21B, TTC21B-AS1 (W228*) | Single nucleotide variant (nonsense) | Jeune thoracic dystrophy +1 more | |