| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GIGYF2, KCNJ13 (Q139* +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 | |
| | GIGYF2, KCNJ13 (K86fs +2 more) | Deletion (frameshift variant +1 more) | Leber congenital amaurosis 16 | |
| | GIGYF2, KCNJ13 (S105I +1 more) | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 16 | |
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