| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy | |
| | | Duplication (inframe_insertion +2 more) | Autosomal recessive bestrophinopathy +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene