| | | Copy number loss | See cases | |
| | PAX6_HS3, PAX6_HS8 +334 more | Copy number loss | See cases | |
| | LOC129390275, LOC129390276 +255 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ELP4, LOC105980003 +8 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130005471, LOC105980003 +5 more | Deletion | Aniridia 1 +1 more | |
| | LOC126861176, PAX6 +5 more | Deletion | Congenital aniridia | |
| | | Copy number gain | See cases | |
| | ELP4, LOC126861176 +1 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Indel (3 prime UTR variant) | Congenital aniridia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Deletion (3 prime UTR variant) | Aniridia 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital aniridia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital aniridia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital aniridia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Foveal hypoplasia 1 +7 more | |
| | | Microsatellite (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | GConflicting classifications of pathogenicity |
| | | Insertion (3 prime UTR variant) | Congenital aniridia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital aniridia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital aniridia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +7 more | |
| | | Duplication (3 prime UTR variant) | 11p partial monosomy syndrome +7 more | |
| | | Deletion (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +7 more | |
| | | Deletion (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +8 more | |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia 1 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital aniridia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital aniridia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Foveal hypoplasia 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Foveal hypoplasia 1 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Anophthalmia-microphthalmia syndrome +7 more | GConflicting classifications of pathogenicity |