| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130058479, SOCS1 (R22W) | Single nucleotide variant (missense variant) | Systemic lupus erythematosus +1 more | GPathogenic/Likely pathogenic |
| | LOC130058479, SOCS1 (A9fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 53 | |
| | | Single nucleotide variant (missense variant) | Immunoskeletal dysplasia with neurodevelopmental abnormalities | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | TRAF3IP2, TRAF3IP2-AS1 (T536I +2 more) | Single nucleotide variant (missense variant) | Candidiasis, familial, 8 | |
| | | Single nucleotide variant (missense variant) | Acute megakaryoblastic leukemia in down syndrome +3 more | GPathogenic/Likely pathogenic |
| | PTPN22, AP4B1-AS1 (R620W +2 more) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CISH, LOC129936806
+1 more | Single nucleotide variant (5 prime UTR variant) | Malaria, susceptibility to +2 more | |
Click to view in NCBI Gene