| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GPHN, RDH12
+1 more (V233L) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | GPathogenic/Likely pathogenic |
| | GPHN, RDH12
+1 more (A269G) | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Spastic paraplegia +1 more | |
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