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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELANE
(A73T)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 1, autosomal dominant
+4 more
GConflicting classifications of pathogenicity
ELANE
(P139L)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
+2 more
GPathogenic/Likely pathogenic
ELANE
(R144H)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 1, autosomal dominant
+2 more
GUncertain significance
ELANE
(V207L)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
+1 more
GUncertain significance
ELANE
(G221V)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 1, autosomal dominant
+1 more
GUncertain significance
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