| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Syndromic microphthalmia type 5 | |
| | | Deletion (frameshift variant) | OTX2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | OTX2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (intron variant) | Anophthalmia-microphthalmia syndrome | |
| | | Deletion (frameshift variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Deletion (frameshift variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Anophthalmia-microphthalmia syndrome | |
| | | Deletion (frameshift variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant) | OTX2-related disorder | |
| | | Duplication (frameshift variant +1 more) | OTX2-related disorder | |
| | | Duplication (frameshift variant +1 more) | OTX2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Syndromic microphthalmia type 5 | |
| | | Deletion | Anophthalmia-microphthalmia syndrome | |
| | | Duplication | Anophthalmia-microphthalmia syndrome | |
| | | Insertion (frameshift variant +1 more) | Syndromic microphthalmia type 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Deletion (frameshift variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | Anophthalmia | |
| | | Single nucleotide variant (nonsense +1 more) | Anophthalmia | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | OTX2-Related Syndromic Microphthalmia | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic microphthalmia type 5 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (intron variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Anophthalmia-microphthalmia syndrome | |