| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Irido-corneo-trabecular dysgenesis +7 more | |
| | | Single nucleotide variant (synonymous variant) | PITX2-Related Eye Abnormalities +8 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +9 more | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 1 +9 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Anterior segment dysgenesis 4 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |