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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PC3
(R189Q +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
G6PC3
(P190S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
GConflicting classifications of pathogenicity
G6PC3
(G260R +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
+1 more
GPathogenic
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