| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GUCA1ANB-GUCA1A, GUCA1A (R120L) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | GUCA1A, GUCA1ANB-GUCA1A (E155D) | Single nucleotide variant (missense variant) | Cone dystrophy 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | KCNV2-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cone dystrophy 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
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