| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (intron variant) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Isolated microphthalmia 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated microphthalmia 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Late-onset retinal degeneration +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration | |
| | | Duplication (frameshift variant) | Late-onset retinal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 6 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +4 more | |
| | | Single nucleotide variant (intron variant) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (intron variant) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (intron variant) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 6 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Isolated microphthalmia 5 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated microphthalmia 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Late-onset retinal degeneration +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Retinal degeneration +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Nanophthalmos 2 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Retinal degeneration +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration +2 more | GPathogenic/Likely pathogenic |