| | | Microsatellite (frameshift variant +1 more) | CEP290-Related Disorders +8 more | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 14 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CEP290-Related Disorders +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | CEP290-Related Disorders +9 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +5 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +10 more | |
| | | Single nucleotide variant (nonsense) | CEP290-Related Disorders +14 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +14 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 (splice acceptor variant) | CEP290-Related Disorders +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CEP290-Related Disorders +14 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | CEP290-Related Disorders +6 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 +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | CEP290-Related Disorders +2 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 +9 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Joubert syndrome 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +9 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +10 more | |
| | | Deletion (frameshift variant) | CEP290-Related Disorders +11 more | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CEP290-Related Disorders +8 more | |
| | | Single nucleotide variant (splice donor variant) | CEP290-Related Disorders +8 more | |