"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "G6PC3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683425	NM_138387.4(G6PC3):c.160G>A (p.Gly54Ser)	G6PC3, LOC130060959 (G54S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 691994	NM_138387.4(G6PC3):c.199_218+1del	LOC130060959, G6PC3	Deletion (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic
Select item 691992	NM_138387.4(G6PC3):c.207dup (p.Ile70fs)	G6PC3, LOC130060959 (I70fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 1001236	NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln)	G6PC3 (R131Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 570187	NM_138387.4(G6PC3):c.800C>G (p.Ser267Cys)	G6PC3 (S267C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1163100	NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys)	G6PC3 (Y155C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GUncertain significance

ClinVar