| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Type A2 brachydactyly +3 more | |
| | | Duplication (non-coding transcript variant +1 more) | Acromesomelic dysplasia 2C, Hunter-Thompson type +9 more | |
Click to view in NCBI Gene