| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
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