| | | Deletion (frameshift variant) | Joubert syndrome 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 5 +4 more | |
| | | Single nucleotide variant (intron variant) | Occipital encephalocele +1 more | |
| | | Deletion (frameshift variant) | Polycystic kidney disease +14 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +13 more | |
| | | Single nucleotide variant (nonsense) | CEP290-related ciliopathy +13 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +6 more | |
| | | Deletion (intron variant) | Retinal disorder +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Joubert syndrome 5 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Polycystic kidney disease +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Blindness +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +9 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Joubert syndrome 5 +4 more | |
| | | Microsatellite (frameshift variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +8 more | |