| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GPHN, RDH12
+1 more (R295*) | Single nucleotide variant (nonsense) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 15 | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 15 | |
Click to view in NCBI Gene