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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT3
(V637M +7 more)
Single nucleotide variant
(missense variant)
STAT3 gain of function
+3 more
GPathogenic
STAT3
(V463del +5 more)
Microsatellite
(inframe_deletion)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+2 more
GPathogenic
STAT3
(R423Q +4 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+2 more
GPathogenic
STAT3
(R382Q +4 more)
Single nucleotide variant
(missense variant)
Inherited Immunodeficiency Diseases
+3 more
GPathogenic
STAT3
(R382W +4 more)
Single nucleotide variant
(missense variant)
STAT3 gain of function
+3 more
GPathogenic
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