| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene