| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 50 +4 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive bestrophinopathy +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant vitreoretinochoroidopathy +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Iron Overload +9 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis pigmentosa +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not specified +6 more | |
| | BEST1, FTH1 (A195V +2 more) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Autosomal dominant vitreoretinochoroidopathy +4 more | |