| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Microcephalic primordial dwarfism due to ZNF335 deficiency | |
| | | Microsatellite (frameshift variant) | Microcephalic primordial dwarfism due to ZNF335 deficiency | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene