| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC123477714, LOC123477715
+1267 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992561, LOC129992562
+1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital stationary night blindness autosomal dominant 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +3 more | |
| | PDE6B, PDE6B-AS1 (Q298* +1 more) | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +3 more | |
Click to view in NCBI Gene