| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +3 more | |
| | CEP290, LOC129390514 (R2112Q) | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +3 more | |
| | CEP290, LOC129390514 (K2107R) | Single nucleotide variant (missense variant) | CEP290-related disorder +3 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +3 more | |
Click to view in NCBI Gene