| | | 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 | |
| | | Deletion | Congenital aniridia | |
| | | Deletion | Congenital aniridia | |
| | | Copy number loss | See cases | |
| | IMMP1L, LOC105980005 +10 more | Deletion | Congenital aniridia | |
| | | Copy number loss | See cases | |
| | | Deletion | Congenital aniridia | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129390273, LOC129390274 +9 more | Deletion | Congenital aniridia | |
| | | Deletion | Schizophrenia | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ELP4-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ELP4-related condition | |
| | ELP4, LOC105980003 +8 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +2 more | |
| | | Deletion (frameshift variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ELP4-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | See cases | |
| | ELP4, PAX6DRR (R316H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | PAX6DRR, ELP4 (R316P +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ELP4, PAX6DRR (S333T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ELP4, PAX6DRR (Y341* +1 more) | Single nucleotide variant (nonsense) | Aniridia 2 | |
| | ELP4, PAX6DRR (R351W +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ELP4, PAX6DRR (R356Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126861176, LOC130005471 +5 more | Deletion | Irido-corneo-trabecular dysgenesis +1 more | |
| | | Single nucleotide variant (intron variant) | Aniridia 1 | |
| | LOC126861176, PAX6 +5 more | Deletion | Congenital aniridia | |
| | | Copy number gain | See cases | |
| | ELP4, LOC105980003 (C505fs +1 more) | Microsatellite (frameshift variant +1 more) | Autism spectrum disorder | |
| | ELP4, LOC126861176 +1 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | ELP4-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | 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 +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) | Autosomal dominant keratitis +3 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) | 11p partial monosomy syndrome +6 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) | 11p partial monosomy syndrome +6 more | |
| | | Deletion (3 prime UTR variant) | Aniridia 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant keratitis +6 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) | 11p partial monosomy syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Anophthalmia-microphthalmia syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital aniridia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia 1 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | carboxymethyl-dextran-A2-gadolinium-DOTA +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Anophthalmia-microphthalmia syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia, Cerebellar Ataxia, And Intellectual Disability +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Aniridia 1 +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Irido-corneo-trabecular dysgenesis +7 more | |
| | | Microsatellite (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 +7 more | GConflicting classifications of pathogenicity |