| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Cohen syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Duplication (frameshift variant) | Cohen syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene