| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Duplication (frameshift variant) | Agnathia-otocephaly complex | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Agnathia-otocephaly complex | |
| | | Single nucleotide variant (missense variant) | Agnathia-otocephaly complex | |
Click to view in NCBI Gene