| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (nonsense) | Narrow chest +18 more | |
| | | Copy number gain | Vascular dilatation +8 more | |
| | | Copy number gain | Hypoplasia of scrotum +5 more | |
| | | Copy number gain | Severe global developmental delay +7 more | |
Click to view in NCBI Gene