| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Myelodysplastic syndrome | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +2 more | |
Click to view in NCBI Gene