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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELANE
(G4S)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
+1 more
GUncertain significance
ELANE
(C151Y)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 1, autosomal dominant
+1 more
GPathogenic
ELANE
(G214R)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 1, autosomal dominant
+2 more
GPathogenic
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