Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Proteasome-associated autoinflammatory syndrome 2 +3 more | |
| | | Single nucleotide variant (intron variant) | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome +2 more | |
| | | Indel (frameshift variant) | Proteasome-associated autoinflammatory syndrome 2 | |
| | | Duplication (frameshift variant) | Proteasome-associated autoinflammatory syndrome 2 | |
| | | Deletion (frameshift variant) | Proteasome-associated autoinflammatory syndrome 2 +1 more | |
Click to view in NCBI Gene