| | | Single nucleotide variant (nonsense) | CEP290-Related Disorders +14 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kidney disorder +11 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +1 more | |
| | | Single nucleotide variant (nonsense) | CEP290-Related Disorders +14 more | |
| | | Microsatellite (inframe_deletion) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 4 +8 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +9 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 5 +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +10 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis +10 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +10 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +11 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +8 more | |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +10 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +10 more | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +6 more | GPathogenic/Likely pathogenic |