"PreventionGenetics, part of Exact Sciences"[submitter] AND "G6PC3"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032986	NM_138387.4(G6PC3):c.-4C>T	G6PC3	Single nucleotide variant (intron variant +1 more)	G6PC3-related condition	GLikely benign
Select item 790915	NM_138387.4(G6PC3):c.59C>T (p.Ala20Val)	G6PC3, LOC130060959 (A20V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GBenign/Likely benign
Select item 738941	NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu)	G6PC3, LOC130060959 (I63L)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 730066	NM_138387.4(G6PC3):c.189C>T (p.Ile63=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	G6PC3-related condition +2 more	GBenign/Likely benign
Select item 262365	NM_138387.4(G6PC3):c.219-50C>G	G6PC3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 262366	NM_138387.4(G6PC3):c.381G>A (p.Thr127=)	G6PC3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 262367	NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln)	G6PC3 (R189Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1338095	NM_138387.4(G6PC3):c.849G>A (p.Lys283=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	G6PC3-related condition +2 more	GLikely benign
Select item 1337914	NM_138387.4(G6PC3):c.850A>G (p.Ile284Val)	G6PC3 (I169V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 537189	NM_138387.4(G6PC3):c.879G>A (p.Leu293=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GLikely benign
Select item 211056	NM_138387.4(G6PC3):c.*2T>C	G6PC3	Single nucleotide variant (3 prime UTR variant)	G6PC3-related condition +3 more	GBenign