| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more | |
| | | Insertion (inframe_insertion +1 more) | Retinal dystrophy +2 more | |
Click to view in NCBI Gene