| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DOP1A, PGM3 (R424* +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 23 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 23 | |
Click to view in NCBI Gene