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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PC3, LOC130060959
(P44S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
G6PC3, LOC130060959
(F71fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
G6PC3
(R253H +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic
G6PC3
(G260R +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic
G6PC3
(Q277* +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
GPathogenic
G6PC3
(N313fs +1 more)
Duplication
(3 prime UTR variant +1 more)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
GPathogenic
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