Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | |
| | | Single nucleotide variant (nonsense) | Diamond-Blackfan anemia +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 | |
Click to view in NCBI Gene