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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SP110, SP140
Duplication
(splice donor variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
Gnot provided
SP110, SP140
(S215fs +1 more)
Deletion
(frameshift variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GPathogenic
SP110, SP140
(T125fs +1 more)
Deletion
(frameshift variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
Gnot provided
SP110, SP140
(S109fs +1 more)
Duplication
(frameshift variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
Gnot provided
SP110, SP140
(I27L +1 more)
Indel
(missense variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GPathogenic
SP110, SP140
(Q20fs +1 more)
Deletion
(frameshift variant)
Hepatic veno-occlusive disease-immunodeficiency syndrome
GPathogenic
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