| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Lumbar hyperlordosis +4 more | |
| | | Single nucleotide variant (nonsense +2 more) | Short stature-brachydactyly-obesity-global developmental delay syndrome +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Acanthosis nigricans +14 more | |
Click to view in NCBI Gene