| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CERKL, ITGA4 (G454fs +4 more) | Duplication (3 prime UTR variant +2 more) | Isolated macular dystrophy +1 more | GConflicting classifications of pathogenicity |
| | CERKL, ITGA4 (Y409D +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene