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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PC3, LOC130060959
(Y48*)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
+1 more
GPathogenic
G6PC3, LOC130060959
(F71fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic