| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | 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 | |
| | GIGYF2, KCNJ13 (I120T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Leber congenital amaurosis 16 | |
Click to view in NCBI Gene