| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | DHCR7-related disorder +7 more | GPathogenic/Likely pathogenic |
| | RPL17, RPL17-C18orf32 (T113fs +3 more) | Deletion (frameshift variant) | Autism +9 more | |
Click to view in NCBI Gene