| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | |
| | | Single nucleotide variant (nonsense) | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | |
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