| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Anemia, congenital dyserythropoietic, type 1a +2 more | |
| | | Single nucleotide variant (missense variant) | Anemia, congenital dyserythropoietic, type 1a | |
| | | Single nucleotide variant (missense variant) | Anemia, congenital dyserythropoietic, type 1a +3 more | |
| | CDAN1, LOC130056931 (P86S) | Single nucleotide variant (missense variant) | Anemia, congenital dyserythropoietic, type 1a +2 more | GConflicting classifications of pathogenicity |
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