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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT3
(V413M +4 more)
Single nucleotide variant
(missense variant +1 more)
STAT3-related early-onset multisystem autoimmune disease
GUncertain significance
STAT3
(H437L)
Single nucleotide variant
(missense variant)
STAT3-related early-onset multisystem autoimmune disease
GLikely pathogenic
STAT3
(R382W +4 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+3 more
GPathogenic
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