| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive bestrophinopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +2 more | GPathogenic/Likely pathogenic |
| | BEST1, FTH1 (A195V +2 more) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +3 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Vitelliform macular dystrophy 2 | |
Click to view in NCBI Gene