| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CBLB, LOC126806757 (N466D +6 more) | Single nucleotide variant (missense variant +1 more) | CBLB-related disorder | |
| | CBLB, LOC126806757 (M460V +6 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126806757, CBLB (C435Y +5 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
Click to view in NCBI Gene