| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | |
Click to view in NCBI Gene