Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | Diamond-Blackfan anemia 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Diamond-Blackfan anemia 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 4 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Diamond-Blackfan anemia 4 | |
| | | Deletion | Diamond-Blackfan anemia 4 | |
| | | Microsatellite (frameshift variant +1 more) | Diamond-Blackfan anemia 4 | |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia | |
Click to view in NCBI Gene