| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant) | Legius syndrome | |
| | | Deletion (5 prime UTR variant) | Legius syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Legius syndrome | |
Click to view in NCBI Gene