Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Duplication (intron variant) | Humerofemoral hypoplasia with radiotibial ray deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | Tetraamelia syndrome 2 | |
| | | Deletion (5 prime UTR variant +2 more) | Tetraamelia syndrome 2 | |
Click to view in NCBI Gene