| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Severe combined immunodeficiency disease | |
| | PGM3, DOP1A (R520* +3 more) | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 23 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene