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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK8
Deletion
Combined immunodeficiency due to DOCK8 deficiency
GPathogenic
DOCK8
Deletion
(splice acceptor variant +1 more)
Combined immunodeficiency due to DOCK8 deficiency
GPathogenic
STAT3
(T588A +7 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
GPathogenic
STAT3
(M297V +2 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
GPathogenic
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