| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130006095, SF3B2 (L828fs) | Duplication (frameshift variant) | Craniofacial microsomia 1 | |
| | LOC130006094, SF3B2 (A26S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | B-cell chronic lymphocytic leukemia +3 more | |
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