| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | Diamond-Blackfan anemia 6 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Diamond-Blackfan anemia 6 | |
| | | Duplication (nonsense +2 more) | Diamond-Blackfan anemia 6 | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | Diamond-Blackfan anemia +1 more | |
| | | Microsatellite (frameshift variant +2 more) | Diamond-Blackfan anemia 6 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia 6 | |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia 6 | |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia 6 | GConflicting classifications of pathogenicity |
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