| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GPHN, RDH12
+1 more (R239L) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +2 more | GPathogenic/Likely pathogenic |
| | GPHN, RDH12
+1 more (F254fs) | Deletion (frameshift variant) | Leber congenital amaurosis 13 +1 more | GPathogenic/Likely pathogenic |
| | ZFYVE26, GPHN
+1 more (L274P) | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene