| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CEBPA, LOC130064183 (M36fs) | Deletion (5 prime UTR variant +1 more) | CEBPA-related disorder | |
| | CEBPA, LOC130064183 (R23S) | Single nucleotide variant (5 prime UTR variant +1 more) | Acute myeloid leukemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CEBPA-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CEBPA-related disorder | |
Click to view in NCBI Gene