| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP140, SP110 (R322* +2 more) | Single nucleotide variant (nonsense) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
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