| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP4V2, LOC129993526 (L22V) | Single nucleotide variant (missense variant) | Bietti crystalline corneoretinal dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Corneal dystrophy +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene