| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Wiedemann-Steiner syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Wiedemann-Steiner syndrome +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Wiedemann-Steiner syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
Click to view in NCBI Gene