| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CEP290, LOC129390514 (K2113*) | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | CEP290, LOC129390514 (E2109*) | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | CEP290, LOC129390514 (R2094fs) | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Meckel-Gruber syndrome +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 1 +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene