Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806757, CBLB (C464W +5 more) | Single nucleotide variant (missense variant +2 more) | Autoimmune disease, multisystem, infantile-onset, 3 | |
| | LOC126806757, CBLB (R496* +6 more) | Single nucleotide variant (nonsense +1 more) | Autoimmune disease, multisystem, infantile-onset, 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune disease, multisystem, infantile-onset, 3 | |
Click to view in NCBI Gene