Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (splice acceptor variant) | Diamond-Blackfan anemia 11 | |
| | | Deletion (5 prime UTR variant +1 more) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia +1 more | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Deletion (intron variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 11 | |
Click to view in NCBI Gene