| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (splice donor variant) | MHC class II deficiency | |
| | | Deletion (splice acceptor variant) | MHC class II deficiency 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | MHC class II deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene