| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SP110, SP140 (E240Q +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (Y110H +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome +2 more | |
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