| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +4 more | |
| | CEP290, LOC129390514 (A2108S) | Single nucleotide variant (missense variant) | not provided | |
| | CEP290, LOC129390514 (K2104T) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (frameshift variant) | Meckel-Gruber syndrome +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene