ClinVar for MedGen (Select 414066) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068011	NM_138387.4(G6PC3):c.678-1G>T	G6PC3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely pathogenic
Select item 3065429	NM_138387.4(G6PC3):c.552G>A (p.Trp184Ter)	G6PC3 (A145T +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 3022675	NM_138387.4(G6PC3):c.753G>A (p.Leu251=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 3015535	NM_138387.4(G6PC3):c.24C>T (p.Gly8=)	G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 3012118	NM_138387.4(G6PC3):c.535+19G>A	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 3011254	NM_138387.4(G6PC3):c.218+9G>C	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 3003720	NM_138387.4(G6PC3):c.218+17del	G6PC3, LOC130060959	Deletion (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2998934	NM_138387.4(G6PC3):c.218+14G>C	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2998093	NM_138387.4(G6PC3):c.417-1G>A	G6PC3	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely pathogenic
Select item 2997208	NM_138387.4(G6PC3):c.535+14G>A	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2997128	NM_138387.4(G6PC3):c.957C>T (p.Leu319=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2991971	NM_138387.4(G6PC3):c.909C>G (p.Pro303=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2991635	NM_138387.4(G6PC3):c.417-9T>C	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2990742	NM_138387.4(G6PC3):c.108G>A (p.Lys36=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2989702	NM_138387.4(G6PC3):c.325+8G>A	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2988657	NM_138387.4(G6PC3):c.861T>C (p.Leu287=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2987576	NM_138387.4(G6PC3):c.234C>T (p.Asp78=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2981240	NM_138387.4(G6PC3):c.903C>T (p.Gly301=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2980113	NM_138387.4(G6PC3):c.792C>T (p.Ala264=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2979911	NM_138387.4(G6PC3):c.1014G>A (p.Gln338=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2978515	NM_138387.4(G6PC3):c.495A>G (p.Leu165=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2975906	NM_138387.4(G6PC3):c.684C>T (p.Ile228=)	G6PC3 (Q189*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2975238	NM_138387.4(G6PC3):c.768G>A (p.Gly256=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2974225	NM_138387.4(G6PC3):c.218+20C>T	G6PC3, LOC130060959	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2973091	NM_138387.4(G6PC3):c.601T>C (p.Leu201=)	G6PC3 (V161A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2967950	NM_138387.4(G6PC3):c.651C>T (p.Leu217=)	G6PC3 (L178F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2963894	NM_138387.4(G6PC3):c.171G>A (p.Val57=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2962699	NM_138387.4(G6PC3):c.420C>T (p.Arg140=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2962090	NM_138387.4(G6PC3):c.105C>A (p.Pro35=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2959481	NM_138387.4(G6PC3):c.168G>T (p.Ala56=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2955233	NM_138387.4(G6PC3):c.535+20G>C	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2920200	NM_138387.4(G6PC3):c.325+18T>C	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2918188	NM_138387.4(G6PC3):c.218+8A>G	G6PC3, LOC130060959	Single nucleotide variant (intron variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2913926	NM_138387.4(G6PC3):c.678-8C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2913534	NM_138387.4(G6PC3):c.417-11C>G	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2908525	NM_138387.4(G6PC3):c.867G>A (p.Leu289=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2907559	NM_138387.4(G6PC3):c.81C>G (p.Leu27=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2907382	NM_138387.4(G6PC3):c.417-13C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2902307	NM_138387.4(G6PC3):c.688C>T (p.Leu230=)	G6PC3 (P190L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2899299	NM_138387.4(G6PC3):c.393G>A (p.Ser131=)	G6PC3	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2899191	NM_138387.4(G6PC3):c.441C>T (p.Ser147=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2894342	NM_138387.4(G6PC3):c.993A>G (p.Ala331=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2892556	NM_138387.4(G6PC3):c.535+18C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2888681	NM_138387.4(G6PC3):c.672T>A (p.Leu224=)	G6PC3 (F185I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2887020	NM_138387.4(G6PC3):c.417-16C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2886821	NM_138387.4(G6PC3):c.417-15C>G	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2886486	NM_138387.4(G6PC3):c.141C>T (p.Tyr47=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2881806	NM_138387.4(G6PC3):c.219-12G>A	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2879879	NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys)	G6PC3 (G155E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 2877643	NM_138387.4(G6PC3):c.325+20del	G6PC3	Deletion (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2866976	NM_138387.4(G6PC3):c.585G>A (p.Glu195=)	G6PC3 (A156T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2859503	NM_138387.4(G6PC3):c.777G>A (p.Leu259=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2858133	NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)	G6PC3, LOC130060959 (W21*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2854417	NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro)	G6PC3 (R122P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 2853520	NM_138387.4(G6PC3):c.163del (p.Ile55fs)	G6PC3, LOC130060959 (I55fs)	Deletion (frameshift variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2848805	NM_138387.4(G6PC3):c.954C>T (p.Thr318=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2844936	NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile)	G6PC3 (T20I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 2841745	NM_138387.4(G6PC3):c.55C>T (p.Leu19=)	G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2840965	NM_138387.4(G6PC3):c.417-11C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2838727	NM_138387.4(G6PC3):c.416+1G>A	G6PC3	Single nucleotide variant (splice donor variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely pathogenic
Select item 2838564	NM_138387.4(G6PC3):c.575dup (p.Met192fs)	G6PC3 (G153fs +2 more)	Duplication (frameshift variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2837752	NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)	G6PC3 (M1I)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2836815	NM_138387.4(G6PC3):c.417-19T>G	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2834465	NM_138387.4(G6PC3):c.678-16C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2833534	NM_138387.4(G6PC3):c.326-20G>A	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2832417	NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)	G6PC3 (Y89*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GPathogenic
Select item 2830919	NM_138387.4(G6PC3):c.326-19C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2830799	NM_138387.4(G6PC3):c.456C>A (p.Thr152=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2829918	NM_138387.4(G6PC3):c.855C>T (p.Ala285=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2829710	NM_138387.4(G6PC3):c.327C>A (p.Gly109=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2828466	NM_138387.4(G6PC3):c.345C>T (p.Cys115=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2825237	NM_138387.4(G6PC3):c.865C>T (p.Leu289=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2823599	NM_138387.4(G6PC3):c.165C>T (p.Ile55=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2823201	NM_138387.4(G6PC3):c.417-18T>G	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2820905	NM_138387.4(G6PC3):c.891G>A (p.Leu297=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2817003	NM_138387.4(G6PC3):c.207C>T (p.Leu69=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2815359	NM_138387.4(G6PC3):c.765A>G (p.Ser255=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2806301	NM_138387.4(G6PC3):c.416+13C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2806096	NM_138387.4(G6PC3):c.57A>G (p.Leu19=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2806065	NM_138387.4(G6PC3):c.535+8A>G	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2805428	NM_138387.4(G6PC3):c.325+14A>G	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2802247	NM_138387.4(G6PC3):c.99C>A (p.Gly33=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2802130	NM_138387.4(G6PC3):c.870C>A (p.Ala290=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2801001	NM_138387.4(G6PC3):c.285C>A (p.Ala95=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2800769	NM_138387.4(G6PC3):c.12G>A (p.Thr4=)	G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2798760	NM_138387.4(G6PC3):c.536-14C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2798622	NM_138387.4(G6PC3):c.456C>T (p.Thr152=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2798534	NM_138387.4(G6PC3):c.27C>T (p.Ile9=)	G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2798102	NM_138387.4(G6PC3):c.528A>G (p.Leu176=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2795424	NM_138387.4(G6PC3):c.714T>C (p.Pro238=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2792355	NM_138387.4(G6PC3):c.470T>C (p.Val157Ala)	G6PC3 (V157A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GUncertain significance
Select item 2790838	NM_138387.4(G6PC3):c.544C>T (p.Leu182=)	G6PC3 (P142L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2788068	NM_138387.4(G6PC3):c.747C>T (p.Ala249=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2787220	NM_138387.4(G6PC3):c.30G>A (p.Val10=)	G6PC3	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2787015	NM_138387.4(G6PC3):c.945C>G (p.Leu315=)	G6PC3	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2786805	NM_138387.4(G6PC3):c.536-5C>T	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2785560	NM_138387.4(G6PC3):c.237G>A (p.Arg79=)	G6PC3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2785097	NM_138387.4(G6PC3):c.99C>T (p.Gly33=)	G6PC3, LOC130060959	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2782142	NM_138387.4(G6PC3):c.416+13C>A	G6PC3	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign
Select item 2781805	NM_138387.4(G6PC3):c.325+14_325+17del	G6PC3	Deletion (intron variant)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	GLikely benign

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