| | LOC126806252, LOC126806253 +2457 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Doyne honeycomb retinal dystrophy | |
| | | Deletion (3 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma of childhood | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Doyne honeycomb retinal dystrophy +1 more | |
| | | 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 (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Doyne honeycomb retinal dystrophy | |
| | | 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) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense 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 | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | 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 (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 +1 more | |
| | | Single nucleotide variant (nonsense) | Cutis laxa | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Night blindness +4 more | |
| | | Single nucleotide variant (missense 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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 (missense variant) | Doyne honeycomb retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Doyne honeycomb retinal dystrophy +1 more | |