Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Proteasome-associated autoinflammatory syndrome 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Proteasome-associated autoinflammatory syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Proteasome-associated autoinflammatory syndrome 4 | |
Click to view in NCBI Gene