| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (inframe_insertion) | Synpolydactyly type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly-syndactyly syndrome +1 more | |
| | | Deletion (frameshift variant) | Brachydactyly type E1 +3 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly type E1 +1 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene