| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Floating-Harbor syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (nonsense) | Floating-Harbor syndrome +5 more | |
| | | Single nucleotide variant (nonsense) | Floating-Harbor syndrome | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene