| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +3 more | |
| | | Indel (3 prime UTR variant) | Irido-corneo-trabecular dysgenesis +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 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) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Anophthalmia-microphthalmia syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +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) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Anophthalmia-microphthalmia syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +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) | Anophthalmia-microphthalmia syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +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) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +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) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Anophthalmia-microphthalmia syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Insertion (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +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) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 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) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | |
| | | Duplication (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | |
| | | Deletion (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 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) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | |
| | | Deletion (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) | 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) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +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 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Anophthalmia-microphthalmia syndrome +8 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Irido-corneo-trabecular dysgenesis +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +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 +7 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) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +3 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) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +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 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 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) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | 11p partial monosomy syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | 11p partial monosomy syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Anophthalmia-microphthalmia syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal dominant keratitis +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) | Autosomal dominant keratitis +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Foveal hypoplasia 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | 11p partial monosomy syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal dominant keratitis +6 more | |
| | ELP4, PAX6 (L328V +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal dominant keratitis +3 more | |
| | ELP4, PAX6 (F402L +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | 11p partial monosomy syndrome +6 more | |
| | ELP4, PAX6 (G442E +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Foveal hypoplasia 1 +6 more | |
| | ELP4, PAX6 (Y381* +4 more) | Duplication (3 prime UTR variant +2 more) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | ELP4, PAX6 (E423Q +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | 11p partial monosomy syndrome +6 more | |
| | ELP4, PAX6 (K350T +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Anophthalmia-microphthalmia syndrome +3 more | |