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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELANE
(C71R)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 1, autosomal dominant
GPathogenic
ELANE
(S126L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic
ELANE
(P139L)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 1, autosomal dominant
+2 more
GPathogenic/Likely pathogenic
ELANE
(C151Y)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
+1 more
GPathogenic
ELANE
(G214R)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
Gnot provided
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