| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Mycobacterium tuberculosis, susceptibility to | |
| | SP110, SP140 (S215fs +1 more) | Deletion (frameshift variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (Q20fs +1 more) | Deletion (frameshift variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
Click to view in NCBI Gene