| | LOC129456123, LOC130065248 +833 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC613266, MACROD2 +950 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065583, LOC130065584 +45 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Deletion (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | VSX1-related disorder | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | VSX1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Keratoconus 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Posterior polymorphous corneal dystrophy +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Posterior polymorphous corneal dystrophy +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Craniofacial anomalies and anterior segment dysgenesis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Posterior polymorphous corneal dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Posterior polymorphous corneal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |