| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | LOC126862987, SEC23B (A128T +1 more) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (splice donor variant) | Congenital dyserythropoietic anemia, type II +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene