| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GPHN, RDH12
+1 more (A269fs) | Deletion (frameshift variant) | RDH12-Related Disorders +3 more | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia +1 more | |
| | | Microsatellite (frameshift variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene