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