| | | 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 | |
| | PAX6DRR, PAX6_HS8 +11 more | Deletion | Congenital aniridia | |
| | | Deletion | Congenital aniridia | |
| | | Copy number loss | See cases | |
| | | Deletion | Congenital aniridia | |
| | | Copy number loss | See cases | |
| | LOC129390273, LOC129390274 +13 more | Deletion | Congenital aniridia | |
| | | Deletion | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Congenital aniridia | |
| | | Deletion | Schizophrenia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Deletion | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Aniridia 1 +1 more | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Aniridia 1 +1 more | |
| | | Deletion | Aniridia 1 +5 more | |
| | ARL14EP, C11orf91 +23 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | GAL3ST3, GALNT18 +1289 more | Copy number gain | See cases | |
| | MRGPRX3, MRGPRX4 +1289 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome | |
| | | Copy number loss | Aniridia 1 | |
| | | Copy number loss | Aniridia 1 | |
| | | Copy number loss | Aniridia 1 | |
| | | Copy number loss | 11p partial monosomy syndrome | |
| | | Copy number loss | Aniridia 1 | |
| | | Deletion | Congenital aniridia | |
| | | Deletion | Congenital aniridia | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |