| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | BEST1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy | |
| | | Microsatellite (inframe_deletion +2 more) | Vitelliform macular dystrophy 2 +2 more | |
| | | Microsatellite (frameshift variant +2 more) | Autosomal recessive bestrophinopathy +2 more | |
Click to view in NCBI Gene