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