| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | LOC130004599, NFKB2 (S333N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | NFKB2, LOC130004599 (P357L +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130004599, NFKB2 (G362R +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130004599, NFKB2 (R407L +1 more) | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene