| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Hip contracture +6 more | |
| | | Single nucleotide variant (missense variant) | Clinodactyly +4 more | |
| | | Copy number loss | Attention deficit hyperactivity disorder +3 more | |
| | | Copy number loss | Ear malformation +13 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
Click to view in NCBI Gene