| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Patterned macular dystrophy 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 2 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +4 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Vitelliform macular dystrophy 2 | |
| | | Deletion (frameshift variant +2 more) | Vitelliform macular dystrophy 2 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene