| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant vitreoretinochoroidopathy | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive bestrophinopathy +4 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant vitreoretinochoroidopathy +4 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant vitreoretinochoroidopathy +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Deletion (frameshift variant +2 more) | Vitelliform macular dystrophy 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | FTH1-related disorder +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal dominant vitreoretinochoroidopathy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitelliform macular dystrophy 2 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal dominant vitreoretinochoroidopathy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal dominant vitreoretinochoroidopathy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal dominant vitreoretinochoroidopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Vitelliform macular dystrophy 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Vitelliform macular dystrophy 2 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis Pigmentosa, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant vitreoretinochoroidopathy +2 more | |
| | BEST1, FTH1 (S507P +4 more) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant vitreoretinochoroidopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant vitreoretinochoroidopathy +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Vitelliform macular dystrophy 2 +6 more | GConflicting classifications of pathogenicity |
| | BEST1, FTH1 (A357V +5 more) | Single nucleotide variant (missense variant +1 more) | Vitelliform macular dystrophy 2 +6 more | GConflicting classifications of pathogenicity |
| | BEST1, FTH1 (R355H +5 more) | Single nucleotide variant (missense variant +1 more) | Vitelliform macular dystrophy 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Vitelliform macular dystrophy 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Vitelliform macular dystrophy 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Vitelliform macular dystrophy 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Vitelliform macular dystrophy 2 +3 more | |
| | | Single nucleotide variant (intron variant) | Vitelliform macular dystrophy 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant vitreoretinochoroidopathy +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant vitreoretinochoroidopathy +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant vitreoretinochoroidopathy +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal dominant vitreoretinochoroidopathy +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Vitelliform macular dystrophy 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant vitreoretinochoroidopathy +5 more | GConflicting classifications of pathogenicity |
| | BEST1, FTH1 (V492I +4 more) | Single nucleotide variant (missense variant +2 more) | not provided +6 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +9 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis pigmentosa +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Autosomal dominant vitreoretinochoroidopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant vitreoretinochoroidopathy +6 more | |
| | BEST1, FTH1 (A195V +2 more) | Single nucleotide variant (missense variant +2 more) | Autosomal dominant vitreoretinochoroidopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant vitreoretinochoroidopathy +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant vitreoretinochoroidopathy +5 more | |
| | BEST1, FTH1 (L567F +4 more) | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 +2 more | |
| | FTH1, BEST1 (E557K +4 more) | Single nucleotide variant (missense variant +2 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis Pigmentosa, Recessive +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis pigmentosa 50 +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant vitreoretinochoroidopathy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | GPathogenic/Likely pathogenic |