| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (no sequence alteration +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | CIITA-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | MHC class II deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | MHC class II deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | MHC class II deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (splice donor variant) | MHC class II deficiency +1 more | GConflicting classifications of pathogenicity |
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