"GeneReviews"[submitter] AND "G6PC3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189781	NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)	G6PC3, LOC130060959 (P44S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 189782	NM_138387.4(G6PC3):c.210del (p.Phe71fs)	G6PC3, LOC130060959 (F71fs)	Deletion (frameshift variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GPathogenic
Select item 1037	NM_138387.4(G6PC3):c.758G>A (p.Arg253His)	G6PC3 (R253H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 30874	NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)	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
Select item 189783	NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)	G6PC3 (Q277* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 189784	NM_138387.4(G6PC3):c.935dup (p.Asn313fs)	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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