| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | PSMB8-AS1, TAP1 (G516* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | MHC class I deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class I deficiency | |
| | | Single nucleotide variant (nonsense) | MHC class I deficiency | |
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