| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | HECW2-related disorder +2 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene