| | | Single nucleotide variant (missense variant) | Congenital ocular coloboma | |
| | | Insertion (frameshift variant) | Congenital ocular coloboma | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital ocular coloboma | |
| | | Copy number loss | Astigmatism +4 more | |
| | | Deletion | imperforated anus +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Deletion (inframe_deletion) | Congenital ocular coloboma | |
| | | Insertion (inframe_indel) | Congenital ocular coloboma | |
| | | Deletion (frameshift variant) | Congenital ocular coloboma | |
| | | Single nucleotide variant (nonsense) | Congenital ocular coloboma | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epilepsy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental delay +5 more | |
| | | Single nucleotide variant (missense variant) | Wide nose +6 more | |
| | | Single nucleotide variant (missense variant) | WDR37-related disorder +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Unilateral microphthalmos | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Aniridia 1 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Learning disability +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Congenital ocular coloboma | |
| | | Single nucleotide variant (missense variant) | Juvenile cataract-microcornea-renal glucosuria syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital ocular coloboma | |
| | | Deletion (frameshift variant) | Cataract 33 | |
| | | Duplication (frameshift variant) | Congenital glaucoma +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | Irido-corneo-trabecular dysgenesis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | ELP4, PAX6 (K387* +4 more) | Single nucleotide variant (3 prime UTR variant +3 more) | Coloboma of optic nerve +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +26 more | GPathogenic/Likely pathogenic |