| | | Single nucleotide variant (nonsense) | Strabismus +6 more | |
| | | Single nucleotide variant (missense variant) | Cataract +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cataract +2 more | |
| | | Single nucleotide variant (missense variant) | Baralle-Macken syndrome | |
| | | Single nucleotide variant (splice donor variant) | Baralle-Macken syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Irido-corneo-trabecular dysgenesis +6 more | |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +7 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Axenfeld-Rieger syndrome type 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | PITX2-Related Eye Abnormalities +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Irido-corneo-trabecular dysgenesis +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Irido-corneo-trabecular dysgenesis +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Irido-corneo-trabecular dysgenesis +6 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Axenfeld-Rieger syndrome type 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Single nucleotide variant (missense variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Axenfeld-Rieger syndrome type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | PITX2-Related Eye Abnormalities +6 more | |
| | | Deletion | Global developmental delay +8 more | |
| | | Single nucleotide variant (missense variant) | Cataract 19 multiple types +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Protein-losing enteropathy +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cataract +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria, cblA type +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Severe global developmental delay +2 more | |
| | | Single nucleotide variant (splice donor variant) | Mask-like facies +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
| | | Single nucleotide variant (missense variant) | Inguinal hernia +12 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | COL18A1, SLC19A1 (R1327* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Cataract +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Cataract +6 more | |
| | | Single nucleotide variant (synonymous variant) | Cataract +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +6 more | |
| | | Microsatellite (3 prime UTR variant) | Cataract +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cataract +6 more | |
| | | Deletion (3 prime UTR variant) | Cataract | |
| | | Single nucleotide variant (missense variant) | not provided +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Cataract | |
| | | Single nucleotide variant | Cataract | |
| | | Duplication | Cataract | |
| | | Deletion (3 prime UTR variant) | Cataract | |
| | | Microsatellite (frameshift variant) | Cataract | |
| | | Deletion (3 prime UTR variant) | Cataract | |
| | | Duplication (3 prime UTR variant) | Cataract +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Cataract +1 more | |
| | | Deletion (3 prime UTR variant) | Cataract | |
| | | Microsatellite (3 prime UTR variant) | Cataract | |
| | | Duplication (3 prime UTR variant) | Cataract | |
| | | Duplication (3 prime UTR variant) | Cataract | |
| | | Duplication (3 prime UTR variant) | Cataract | |
| | | Single nucleotide variant (missense variant) | Cataract +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Axenfeld-Rieger syndrome type 1 +9 more | GConflicting classifications of pathogenicity |
| | | Inversion | Ambiguous genitalia +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +9 more | |
| | | Single nucleotide variant (missense variant) | Cataract +9 more | |
| | | Single nucleotide variant (intron variant) | Hypoplasia of the iris +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Anterior segment dysgenesis 1 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Anterior segment dysgenesis 1 +8 more | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | partial sensorineural deafness +4 more | |