| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC105369889, POC1B (T403fs +1 more) | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC130008356, POC1B
+1 more (K18*) | Single nucleotide variant (nonsense +3 more) | Cone-rod dystrophy 20 | |
Click to view in NCBI Gene