| | GIGYF2, KCNJ13 (S105I +1 more) | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (Q139* +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (K86fs +2 more) | Deletion (frameshift variant +1 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (L144P +1 more) | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (R162Q +1 more) | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GIGYF2, KCNJ13 (M1T +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (missense variant +2 more) | Leber congenital amaurosis 16 +1 more | GConflicting classifications of pathogenicity |
| | GIGYF2, KCNJ13 (T175I +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Leber congenital amaurosis 16 +1 more | |
| | GIGYF2, KCNJ13 (G183D +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (S230N +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Leber congenital amaurosis 16 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leber congenital amaurosis 16 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (T153I +1 more) | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (I120T +1 more) | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (L241P +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (R166* +2 more) | Single nucleotide variant (missense variant +2 more) | Leber congenital amaurosis 16 | |