| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +2 more | GConflicting classifications of pathogenicity |
| | SEC23B, LOC126862987 (R123*) | Single nucleotide variant (nonsense +1 more) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene