| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GUCA1A, GUCA1ANB-GUCA1A (Y99C) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | GUCA1A, GUCA1ANB-GUCA1A (E111A) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
Click to view in NCBI Gene