| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 14 +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Meckel-Gruber syndrome +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Leber congenital amaurosis 10 +8 more | |
| | | Duplication (nonsense +1 more) | Familial aplasia of the vermis +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Leber congenital amaurosis 10 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Bardet-Biedl syndrome 14 +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Joubert syndrome 5 +5 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 5 +1 more | |
| | | Duplication (frameshift variant) | Retinal dystrophy +9 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 5 +5 more | |
| | | Duplication (splice donor variant) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +10 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +10 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 5 +7 more | |
| | | Deletion (frameshift variant) | Meckel-Gruber syndrome +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 5 +4 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 5 +5 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Microsatellite (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 5 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +13 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Familial aplasia of the vermis +7 more | |
| | | Deletion (frameshift variant) | Senior-Loken syndrome 6 +8 more | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 14 +9 more | |
| | | Deletion (frameshift variant) | Polycystic kidney disease +14 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +8 more | |
| | | Microsatellite (splice donor variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 +8 more | |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 14 +4 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +10 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +13 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinal dystrophy +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CEP290-related ciliopathy +13 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 5 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +6 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +9 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +4 more | |
| | | Deletion (frameshift variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 5 +4 more | |
| | | 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) | Meckel syndrome, type 4 +11 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Meckel syndrome, type 4 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 +9 more | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +4 more | |
| | | Duplication (frameshift variant) | Meckel-Gruber syndrome +6 more | |
| | | Deletion (nonsense) | Senior-Loken syndrome 6 +7 more | |
| | | 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) | Bardet-Biedl syndrome 14 +10 more | |
| | | Deletion (frameshift variant) | CEP290-related disorder +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 10 +9 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +8 more | |
| | | Deletion (frameshift variant) | not provided +5 more | |
| | | Deletion (splice donor variant) | Leber congenital amaurosis 10 +9 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +9 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 4 +8 more | |
| | | Single nucleotide variant (splice donor variant) | CEP290-related disorder +9 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Joubert syndrome 1 +8 more | |
| | | Deletion (frameshift variant) | not provided +10 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 6 +8 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 +5 more | |
| | | Microsatellite (frameshift variant) | Joubert syndrome 5 +4 more | |
| | | Microsatellite (frameshift variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CEP290-related disorder +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis +7 more | |
| | | Microsatellite (frameshift variant) | Senior-Loken syndrome 6 +7 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +10 more | |
| | | Single nucleotide variant (splice donor variant) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +8 more | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 14 +8 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +9 more | |
| | | Single nucleotide variant (nonsense) | CEP290-related disorder +9 more | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +12 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +9 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +8 more | |
| | | Deletion (frameshift variant) | not provided +10 more | |
| | | Deletion (frameshift variant) | Senior-Loken syndrome 6 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +8 more | |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 4 +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Leber congenital amaurosis +9 more | |
| | | Single nucleotide variant (splice donor variant) | CEP290-related disorder +8 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +8 more | |