| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Congenital dyserythropoietic anemia type type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital dyserythropoietic anemia type type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital dyserythropoietic anemia type type 1B | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Copy number gain | not provided | |
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