| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | GPHN, RDH11 (W180* +1 more) | Single nucleotide variant (nonsense) | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis +1 more | |
| | GPHN, RDH12 +1 more (A269fs) | Deletion (frameshift variant) | Leber congenital amaurosis +4 more | |
Click to view in NCBI Gene