G6PC1

Glycogen Storage Disease Ia

Introduction

The G6PC1 gene (previously known as G6PC, OMIM *613742) has 5 exons spanning approximately 12.5 kb on chromosome 17q21.31 and encodes a 357 amino acid protein, glucose-6-phosphatase-α (G6Pase-α), and is primarily expressed in the liver, kidneys, and intestines (1-4).

More than 300 variants have been characterized for the G6PC1 gene (5). Missense, nonsense, insertion/deletion, and splicing variants that lead to GSDIa have all been isolated for G6PC1 (6). Higher concentrations of specific G6PC1 variants have also been identified in populations from Thailand, Korea, France, Tunisia, and Japan, as well as in the Ashkenazi Jewish and Amish populations, suggestive of founder effects in these groups (7-13).

Variant List

To see more information, click on the variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and Laboratory Variant Classification, please use the following links here.

Gene Structure

Variant ID	Variant	Amino Acid Change	Gene Symbol	Variant Type	Effect Type	Display Variant Classification	Times Observed	PMID	Location	Present in ClinVar

G6PC1_0001	c.-77G>A	UTR	G6PC1	SNV	UTR	Likely Benign	<5	15918042, 17354259	5' UTR	Yes
G6PC1_0002	c.14T>G	p.Met5Arg	G6PC1	SNV	Missense	Pathogenic	<5	11058903, 11739393, 12373566, Show More >>	Exon 1	Yes
G6PC1_0003	c.18T>C	p.Asn6=	G6PC1	SNV	Silent	Uncertain Significance	<5	28360385	Exon 1	Yes
G6PC1_0004	c.18_19insTGAA	p.Val7*	G6PC1	Insertion	Nonsense	Pathogenic	<5	10070617, 10834516, 11386847, Show More >>	Exon 1	No
G6PC1_0005	c.25_26delinsGC	p.His9Ala	G6PC1	Delins	Missense	Likely Pathogenic	<5	12093795, 7744838	Exon 1	No
G6PC1_0006	c.34G>C	p.Gly12Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	31844626	Exon 1	No
G6PC1_0007	c.38T>A	p.Ile13Asn	G6PC1	SNV	Missense	Uncertain Significance	<5	11890686	Exon 1	No
G6PC1_0008	c.46A>G	p.Thr16Ala	G6PC1	SNV	Missense	Likely Pathogenic	<5	10738005, 11739393, 12373566, Show More >>	Exon 1	Yes
G6PC1_0009	c.47C>T	p.Thr16Ile	G6PC1	SNV	Missense	Likely Pathogenic	<5	16012821	Exon 1	No
G6PC1_0010	c.47C>G	p.Thr16Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	15542400, 18449899, 20532819, Show More >>	Exon 1	Yes
G6PC1_0011	c.59A>G	p.Gln20Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	10612834, 10834516, 11386847, Show More >>	Exon 1	Yes
G6PC1_0012	c.70C>T	p.Gln24*	G6PC1	SNV	Nonsense	Pathogenic	<5	11058918, 18449899, 31508908	Exon 1	Yes
G6PC1_0013	c.79C>T	p.Gln27*	G6PC1	SNV	Nonsense	Pathogenic	<5	28397058, 34258141	Exon 1	Yes
G6PC1_0014	c.79del	p.Gln27Argfs*9	G6PC1	Deletion	Frameshift	Pathogenic	<5	10874313, 11386847, 15542400, Show More >>	Exon 1	Yes
G6PC1_0015	c.84C>T	p.Asp28=	G6PC1	SNV	Silent	Uncertain Significance	<5	28360385	Exon 1	No
G6PC1_0016	c.96G>T	p.Leu32Phe	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 1	No
G6PC1_0017	c.96_97del	p.Leu32Phefs*28	G6PC1	Deletion	Frameshift	Pathogenic	<5	10094563, 10834516, 18449899	Exon 1	No
G6PC1_0018	c.101C>T	p.Ser34Phe	G6PC1	SNV	Missense	Uncertain Significance	<5	34954144	Exon 1	No
G6PC1_0019	c.?	p.Val35Phe	G6PC1		Missense	Uncertain Significance	<5	34035281	Exon 1	Unknown
G6PC1_0020	c.113A>T	p.Asp38Val	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10322403, 10612834, Show More >>	Exon 1	Yes
G6PC1_0021	c.118A>G	p.Arg40Gly	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 1	No
G6PC1_0022	c.?	p.Asn41Lys	G6PC1		Missense	Uncertain Significance	<5	28008009	Exon 1	Unknown
G6PC1_0023	c.131A>T	p.Tyr44Phe	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 1	No
G6PC1_0024	c.132C>T	p.Tyr44=	G6PC1	SNV	Silent	Uncertain Significance	<5	34258141	Exon 1	Yes
G6PC1_0025	c.136del	p.Leu46Serfs*19	G6PC1	Deletion	Frameshift	Likely Pathogenic	<5	34258141	Exon 1	Yes
G6PC1_0026	c.137T>G	p.Leu46Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	30984526	Exon 1	No
G6PC1_0027	c.137T>C	p.Leu46Pro	G6PC1	SNV	Missense	Uncertain Significance	<5	31844626	Exon 1	No
G6PC1_0028	c.149G>A	p.Trp50*	G6PC1	SNV	Nonsense	Pathogenic	<5	10612834, 10834516, 11386847, Show More >>	Exon 1	No
G6PC1_0029	c.150_151del	p.Trp50Cysfs*10	G6PC1	Deletion	Frameshift	Pathogenic	<5	11596659, 18449899, 22080625, Show More >>	Exon 1	Yes
G6PC1_0030	c.152T>C	p.Phe51Ser	G6PC1	SNV	Missense	Uncertain Significance	<5	32046761	Exon 1	No
G6PC1_0031	c.154_155delinsGC	p.His52Ala	G6PC1	Delins	Missense	Uncertain Significance	<5	12093795	Exon 1	No
G6PC1_0032	c.155A>T	p.His52Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	36160031	Exon 1	Yes
G6PC1_0033	c.161A>C	p.Gln54Pro	G6PC1	SNV	Missense	Pathogenic	<5	10447271, 11058903, 11739393, Show More >>	Exon 1	Yes
G6PC1_0034	c.?	p.Gln54Asn	G6PC1		Missense	Likely Pathogenic	<5	16012821	Exon 1	Unknown
G6PC1_0035	c.163G>A	p.Glu55Lys	G6PC1	SNV	Missense	Uncertain Significance	<5	21461791	Exon 1	No
G6PC1_0036	c.172_173del	p.Gly58Hisfs*2	G6PC1	Deletion	Frameshift	Pathogenic	<5	28397058	Exon 1	No
G6PC1_0037	c.?	p.Ile59*	G6PC1		Nonsense	Pathogenic	<5	35811762	Exon 1	Unknown
G6PC1_0038	c.184C>A	p.Leu62Ile	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 1	No
G6PC1_0039	c.187T>C	p.Trp63Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10834516, 11386847, Show More >>	Exon 1	No
G6PC1_0040	c.189G>C	p.Trp63Cys	G6PC1	SNV	Missense	Likely Pathogenic	<5	31508908, 34082801	Exon 1	Yes
G6PC1_0041	c.189G>A	p.Trp63*	G6PC1	SNV	Nonsense	Pathogenic	<5	10094563, 10322403, 10612834, Show More >>	Exon 1	Yes
G6PC1_0042	c.190G>T	p.Val64Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	27139513	Exon 1	No
G6PC1_0043	c.191T>G	p.Val64Gly	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 1	No
G6PC1_0044	c.193G>T	p.Ala65Ser	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 1	Yes
G6PC1_0045	c.193G>C	p.Ala65Pro	G6PC1	SNV	Missense	Uncertain Significance	<5	12373566, 17994282, 18449899, Show More >>	Exon 1	Yes
G6PC1_0046	c.202G>A	p.Gly68Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	10318794, 10834516, 10940311, Show More >>	Exon 1	Yes
G6PC1_0047	c.202_203delinsAA	p.Gly68Lys	G6PC1	Delins	Missense	Likely Pathogenic	<5	18996862, 28612263	Exon 1	No
G6PC1_0048	c.208T>C	p.Trp70Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	23046672	Exon 1	No
G6PC1_0049	c.208del	p.Trp70Glyfs*32	G6PC1	Deletion	Frameshift	Pathogenic	<5	35834487	Exon 1	Yes
G6PC1_0050	c.209G>A	p.Trp70*	G6PC1	SNV	Nonsense	Pathogenic	<5	10447271, 10612834, 10834516, Show More >>	Exon 1	Yes
G6PC1_0051	c.209del	p.Trp70Glyfs*32	G6PC1	Deletion	Frameshift	Pathogenic	<5	35834487	Exon 1	No
G6PC1_0052	c.?	p.Val74Ser	G6PC1		Missense	Uncertain Significance	<5	11890686	Exon 1	Unknown
G6PC1_0053	c.226A>T	p.Lys76*	G6PC1	SNV	Nonsense	Pathogenic	<5	36160031	Exon 1	No
G6PC1_0054	c.227A>T	p.Lys76Met	G6PC1	SNV	Missense	Likely Pathogenic	<5	35834487	Exon 1	No
G6PC1_0055	c.228G>C	p.Lys76Asn	G6PC1	SNV	Missense	Pathogenic	<5	10874313, 11386847, 11739393, Show More >>	Exon 1	Yes
G6PC1_0056	c.229T>G	p.Trp77Gly	G6PC1	SNV	Missense	Likely Pathogenic	<5	31415093	Exon 1	No
G6PC1_0057	c.229T>C	p.Trp77Arg	G6PC1	SNV	Missense	Pathogenic	<5	10322403, 10738525, 10834516, Show More >>	Exon 1	Yes
G6PC1_0058	c.230+1G>A	Intronic	G6PC1	SNV	Splice donor	Pathogenic	<5	10482875, 11386847	Intron 1	No
G6PC1_0059	c.230+4A>G	Intronic	G6PC1	SNV	Splice region	Uncertain Significance	<5	12373566, 18449899, 29576889, Show More >>	Intron 1	Yes
G6PC1_0060	c.230+1G>T	Intronic	G6PC1	SNV	Splice donor	Pathogenic	<5	11386847, 32772503	Intron 1	Yes
G6PC1_0061	c.230+1G>C	Intronic	G6PC1	SNV	Splice donor	Pathogenic	<5	31415093	Intron 1	Yes
G6PC1_0062	c.231-1G>A	Intronic	G6PC1	SNV	Splice acceptor	Pathogenic	<5	10748407, 12373566, 18449899, Show More >>	Intron 1	Yes
G6PC1_0063	c.231-2A>T	Intronic	G6PC1	SNV	Splice acceptor	Pathogenic	<5	30890478	Intron 1	No
G6PC1_0064	c.231-2A>C	Intronic	G6PC1	SNV	Splice acceptor	Pathogenic	<5	11386847, 9856496	Intron 1	No
G6PC1_0065	c.238T>A	p.Phe80Ile	G6PC1	SNV	Missense	Uncertain Significance	<5	24980439, 30956637, 33344388	Exon 2	Yes
G6PC1_0066	c.239T>C	p.Phe80Ser	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 2	Yes
G6PC1_0067	c.241G>C	p.Gly81Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	10612834, 10834516, 11386847, Show More >>	Exon 2	No
G6PC1_0068	c.247C>T	p.Arg83Cys	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10094563, 10612834, Show More >>	Exon 2	Yes
G6PC1_0069	c.247_248delinsAT	p.Arg83Ile	G6PC1	Delins	Missense	Likely Pathogenic	<5	10070617, 7655466	Exon 2	No
G6PC1_0070	c.247_248delinsAA	p.Arg83Asn	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 2	No
G6PC1_0071	c.247_248delinsAC	p.Arg83Thr	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 2	No
G6PC1_0072	c.247_249delinsATG	p.Arg83Met	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 2	No
G6PC1_0073	c.247C>A	p.Arg83Ser	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 2	Yes
G6PC1_0074	c.248G>A	p.Arg83His	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10094563, 10322403, Show More >>	Exon 2	Yes
G6PC1_0075	c.248G>T	p.Arg83Leu	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 36160031, 7744838	Exon 2	No
G6PC1_0076	c.?	p.Arg83=	G6PC1		Silent	Uncertain Significance	<5	31508908	Exon 2	Unknown
G6PC1_0077	c.?	p.Arg83Gln	G6PC1		Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 2	Unknown
G6PC1_0078	c.?	p.Arg83Lys	G6PC1		Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 2	Unknown
G6PC1_0079	c.?	p.Arg83Glu	G6PC1		Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 2	Unknown
G6PC1_0080	c.255C>A	p.Tyr85*	G6PC1	SNV	Nonsense	Pathogenic	<5	28360385, 30956637	Exon 2	Yes
G6PC1_0081	c.262del	p.Val88Phefs*14	G6PC1	Deletion	Frameshift	Pathogenic	<5	10322403, 10604148, 10944847, Show More >>	Exon 2	Yes
G6PC1_0082	c.262G>T	p.Val88Phe	G6PC1	SNV	Missense	Uncertain Significance	<5	24821770	Exon 2	No
G6PC1_0083	c.?	p.Leu89His	G6PC1		Missense	Uncertain Significance	<5	34035281	Exon 2	Unknown
G6PC1_0084	c.268G>T	p.Asp90Tyr	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 2	No
G6PC1_0085	c.279C>A	p.Tyr93*	G6PC1	SNV	Nonsense	Pathogenic	<5	20509832, 30956637	Exon 2	Yes
G6PC1_0086	c.286A>G	p.Asn96Asp	G6PC1	SNV	Missense	Uncertain Significance	<5	11890686	Exon 2	No
G6PC1_0087	c.286_287delinsGC	p.Asn96Ala	G6PC1	Delins	Missense	Likely Pathogenic	<5	34952005, 9705299	Exon 2	No
G6PC1_0088	c.294del	p.Val99Cysfs*3	G6PC1	Deletion	Frameshift	Pathogenic	<5	30890478	Exon 2	No
G6PC1_0089	c.310C>T	p.Gln104*	G6PC1	SNV	Nonsense	Pathogenic	<5	11161844, 12373566, 14765536, Show More >>	Exon 2	Yes
G6PC1_0090	c.311A>T	p.Gln104Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	23000067, 35783312	Exon 2	Yes
G6PC1_0091	c.323C>T	p.Thr108Ile	G6PC1	SNV	Missense	Likely Pathogenic	<5	10447271, 11058903, 11386847, Show More >>	Exon 2	Yes
G6PC1_0092	c.325T>C	p.Cys109Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	36160031	Exon 2	Yes
G6PC1_0093	c.326G>A	p.Cys109Tyr	G6PC1	SNV	Missense	Uncertain Significance	<5	30279644, 34258141, 34327338, Show More >>	Exon 2	Yes
G6PC1_0094	c.328G>C	p.Glu110Gln	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 10738525, 10834516, Show More >>	Exon 2	No
G6PC1_0095	c.328G>A	p.Glu110Lys	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10322403, 10834516, Show More >>	Exon 2	Yes
G6PC1_0096	c.332C>T	p.Thr111Ile	G6PC1	SNV	Missense	Likely Pathogenic	<5	11058903, 11739393, 12373566, Show More >>	Exon 2	No
G6PC1_0097	c.?	p.Thr111Arg	G6PC1		Missense	Uncertain Significance	<5	34954144	Exon 2	Unknown
G6PC1_0098	c.?	p.Gly112Arg	G6PC1		Missense	Uncertain Significance	<5	28008009	Exon 2	Unknown
G6PC1_0099	c.338C>T	p.Pro113Leu	G6PC1	SNV	Missense	Likely Pathogenic	<5	10612834, 10834516, 11386847, Show More >>	Exon 2	Yes
G6PC1_0100	c.341G>A	p.Gly114Glu	G6PC1	SNV	Missense	Uncertain Significance	<5	23046672	Exon 3	Yes
G6PC1_0101	c.347C>T	p.Pro116Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	22907477	Exon 3	No
G6PC1_0102	c.352G>A	p.Gly118Ser	G6PC1	SNV	Missense	Likely Pathogenic	<5	25308557, 31415093	Exon 3	Yes
G6PC1_0103	c.353G>A	p.Gly118Asp	G6PC1	SNV	Missense	Likely Pathogenic	<5	24980439, 27391121, 30890478, Show More >>	Exon 3	No
G6PC1_0104	c.355_356delinsAC	p.His119Thr	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 3	No
G6PC1_0105	c.355C>G	p.His119Asp	G6PC1	SNV	Missense	Likely Pathogenic	<5	22080625, 28502559, 30890478, Show More >>	Exon 3	Yes
G6PC1_0106	c.355C>A	p.His119Asn	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 3	No
G6PC1_0107	c.355_356delinsGC	p.His119Ala	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 12093795, 21461791, Show More >>	Exon 3	No
G6PC1_0108	c.355_356delinsAT	p.His119Ile	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 3	No
G6PC1_0109	c.355_357inv	p.His119Met	G6PC1	Inversion	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 3	No
G6PC1_0110	c.356A>T	p.His119Leu	G6PC1	SNV	Missense	Likely Pathogenic	<5	11058910, 11161844, 11739393, Show More >>	Exon 3	Yes
G6PC1_0111	c.356A>G	p.His119Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 3	Yes
G6PC1_0112	c.?	p.His119Lys	G6PC1		Missense	Likely Pathogenic	<5	10322403, 7744838	Exon 3	Unknown
G6PC1_0113	c.361A>G	p.Met121Val	G6PC1	SNV	Missense	Uncertain Significance	<5	22909800, 24355556, 27139513	Exon 3	Yes
G6PC1_0114	c.?	p.Met121Ile	G6PC1		Missense	Uncertain Significance	<5	10322403, 17430128, 18449899, Show More >>	Exon 3	Unknown
G6PC1_0115	c.365G>A	p.Gly122Asp	G6PC1	SNV	Missense	Likely Pathogenic	<5	10748407, 11739393, 12373566, Show More >>	Exon 3	Yes
G6PC1_0116	c.367A>T	p.Thr123Ser	G6PC1	SNV	Missense	Likely Pathogenic	<5	11386847, 12444104, 18835800, Show More >>	Exon 3	No
G6PC1_0117	c.370G>T	p.Ala124Ser	G6PC1	SNV	Missense	Likely Pathogenic	<5	16012821	Exon 3	No
G6PC1_0118	c.370G>A	p.Ala124Thr	G6PC1	SNV	Missense	Pathogenic	<5	10322403, 10738525, 10834516, Show More >>	Exon 3	Yes
G6PC1_0119	c.371C>A	p.Ala124Glu	G6PC1	SNV	Missense	Likely Pathogenic	<5	24201678	Exon 3	No
G6PC1_0120	c.373G>C	p.Gly125Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	30890478	Exon 3	No
G6PC1_0121	c.379_380dup	p.Tyr128Thrfs*3	G6PC1	Duplication	Frameshift	Pathogenic	<5	10834516, 18449899, 19541498, Show More >>	Exon 3	Yes
G6PC1_0122	c.381dup	p.Tyr128Thrfs*3	G6PC1	Duplication	Frameshift	Pathogenic	<5	10834516, 18449899, 19541498, Show More >>	Exon 3	No
G6PC1_0123	c.384C>A	p.Tyr128*	G6PC1	SNV	Nonsense	Pathogenic	<5	15151508, 18449899, 30956637, Show More >>	Exon 3	No
G6PC1_0124	c.403_404del	p.Leu135Phefs*68	G6PC1	Deletion	Frameshift	Pathogenic	<5	31508908	Exon 3	Yes
G6PC1_0125	c.416A>G	p.Gln139Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 3	No
G6PC1_0126	c.425T>A	p.Ile142Lys	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 3	No
G6PC1_0127	c.432G>A	p.Pro144=	G6PC1	SNV	Silent	Benign	<5	24385852, 34258141	Exon 3	Yes
G6PC1_0128	c.438_439insT	p.Arg147*	G6PC1	Insertion	Frameshift	Pathogenic	<5	18449899, 31508908	Exon 3	No
G6PC1_0129	c.439A>T	p.Arg147*	G6PC1	SNV	Nonsense	Pathogenic	<5	18449899, 31508908	Exon 3	No
G6PC1_0130	c.?	p.Arg147fs	G6PC1		Frameshift	Pathogenic	<5	10070617, 10834516, 12373566, Show More >>	Exon 3	Unknown
G6PC1_0131	c.?	p.Phe148Leu	G6PC1		Missense	Uncertain Significance	<5	21461791	Exon 3	Unknown
G6PC1_0132	c.446+42G>A	Intronic	G6PC1	SNV	Intronic	Uncertain Significance	<5	30890478	Intron 3	No
G6PC1_0133	c.446+39G>A	Intronic	G6PC1	SNV	Intronic	Uncertain Significance	<5	30890478	Intron 3	No
G6PC1_0134	c.446G>A	p.Arg149Gln	G6PC1	SNV	Missense	Likely Pathogenic	<5	30890478	Exon 3	Yes
G6PC1_0135	c.447-1G>A	Intronic	G6PC1	SNV	Splice acceptor	Pathogenic	<5	31415093	Intron 3	Yes
G6PC1_0136	c.447-58T>A	Intronic	G6PC1	SNV	Intronic	Benign	<5	11310582	Intron 3	Yes
G6PC1_0137	c.462_466del	p.Ile154Metfs*48	G6PC1	Deletion	Frameshift	Pathogenic	<5	10874313, 12373566, 18449899, Show More >>	Exon 4	Yes
G6PC1_0138	c.467G>A	p.Trp156*	G6PC1	SNV	Nonsense	Pathogenic	<5	35834487	Exon 4	No
G6PC1_0139	c.467G>T	p.Trp156Leu	G6PC1	SNV	Missense	Pathogenic	<5	10612834, 11386847, 11739393, Show More >>	Exon 4	Yes
G6PC1_0140	c.468G>A	p.Trp156*	G6PC1	SNV	Nonsense	Pathogenic	<5	35834487	Exon 4	Yes
G6PC1_0141	c.?	p.Trp160*	G6PC1		Nonsense	Pathogenic	<5	20509832, 30956637	Exon 4	Unknown
G6PC1_0142	c.481G>C	p.Ala161Pro	G6PC1	SNV	Missense	Uncertain Significance	<5	12560945	Exon 4	No
G6PC1_0143	c.481G>A	p.Ala161Thr	G6PC1	SNV	Missense	Uncertain Significance	<5	12560945, 33280276	Exon 4	No
G6PC1_0144	c.487C>A	p.Gln163Lys	G6PC1	SNV	Missense	Uncertain Significance	<5	33436392	Exon 4	No
G6PC1_0145	c.493_494delinsTG	p.Asn165Cys	G6PC1	Delins	Missense	Uncertain Significance	<5	34035281	Exon 4	No
G6PC1_0146	c.497T>C	p.Val166Ala	G6PC1	SNV	Missense	Likely Pathogenic	<5	10834516, 10874313, 11739393, Show More >>	Exon 4	Yes
G6PC1_0147	c.497T>G	p.Val166Gly	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10234610, 10322403, Show More >>	Exon 4	Yes
G6PC1_0148	c.500G>A	p.Cys167Tyr	G6PC1	SNV	Missense	Uncertain Significance	<5	17994282, 28008009, 31415093	Exon 4	Yes
G6PC1_0149	c.508C>T	p.Arg170*	G6PC1	SNV	Nonsense	Pathogenic	<5	10094563, 10385064, 10612834, Show More >>	Exon 4	Yes
G6PC1_0150	c.509G>A	p.Arg170Gln	G6PC1	SNV	Missense	Likely Pathogenic	<5	11739393, 12093795, 12373566, Show More >>	Exon 4	Yes
G6PC1_0151	c.515A>T	p.Tyr172Phe	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 4	No
G6PC1_0152	c.516C>A	p.Tyr172*	G6PC1	SNV	Nonsense	Pathogenic	<5	10070617, 10834516, 11386847, Show More >>	Exon 4	Yes
G6PC1_0153	c.518T>C	p.Leu173Pro	G6PC1	SNV	Missense	Uncertain Significance	<5	17607665, 18449899, 20509832, Show More >>	Exon 4	Yes
G6PC1_0154	c.526_527delinsGC	p.His176Ala	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 12093795, 18337460, Show More >>	Exon 4	No
G6PC1_0155	c.526C>A	p.His176Asn	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 18449899, 9497333	Exon 4	No
G6PC1_0156	c.526_528inv	p.His176Met	G6PC1	Inversion	Missense	Likely Pathogenic	<5	10322403, 18449899, 9497333	Exon 4	No
G6PC1_0157	c.526_527delinsAT	p.His176Ile	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 18449899, 9497333	Exon 4	No
G6PC1_0158	c.527A>G	p.His176Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 18449899, 32154055, Show More >>	Exon 4	No
G6PC1_0159	c.?	p.His176Ser	G6PC1		Missense	Likely Pathogenic	<5	10322403, 18449899, 9497333	Exon 4	Unknown
G6PC1_0160	c.?	p.His176Lys	G6PC1		Missense	Likely Pathogenic	<5	10322403, 18449899, 9497333	Exon 4	Unknown
G6PC1_0161	c.530T>G	p.Phe177Cys	G6PC1	SNV	Missense	Uncertain Significance	<5	12373566, 18449899, 24565827, Show More >>	Exon 4	No
G6PC1_0162	c.532C>T	p.Pro178Ser	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 10834516, 11386847, Show More >>	Exon 4	Yes
G6PC1_0163	c.532C>G	p.Pro178Ala	G6PC1	SNV	Missense	Likely Pathogenic	<5	15151508, 18449899, 22899091, Show More >>	Exon 4	Yes
G6PC1_0164	c.533C>T	p.Pro178Leu	G6PC1	SNV	Missense	Likely Pathogenic	<5	22899091	Exon 4	Yes
G6PC1_0165	c.535_536delinsAC	p.His179Thr	G6PC1	Delins	Missense	Uncertain Significance	<5	12093795	Exon 4	No
G6PC1_0166	c.535_536delinsGC	p.His179Ala	G6PC1	Delins	Missense	Likely Pathogenic	<5	12093795	Exon 4	No
G6PC1_0167	c.536A>C	p.His179Pro	G6PC1	SNV	Missense	Likely Pathogenic	<5	10748407, 11161844, 11739393, Show More >>	Exon 4	No
G6PC1_0168	c.540A>G	p.Gln180=	G6PC1	SNV	Silent	Uncertain Significance	<5	28008009	Exon 4	No
G6PC1_0169	c.550G>T	p.Gly184*	G6PC1	SNV	Nonsense	Pathogenic	<5	35834487	Exon 4	Yes
G6PC1_0170	c.550G>A	p.Gly184Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	21983240, 32772503	Exon 4	No
G6PC1_0171	c.551G>A	p.Gly184Glu	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 10738525, 10834516, Show More >>	Exon 4	Yes
G6PC1_0172	c.551G>T	p.Gly184Val	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10834516, 11386847, Show More >>	Exon 4	Yes
G6PC1_0173	c.562+85G>T	Intronic	G6PC1	SNV	Intronic	Uncertain Significance	<5	30890478	Intron 4	No
G6PC1_0174	c.562G>A	p.Gly188Ser	G6PC1	SNV	Missense	Pathogenic	<5	10322403, 10834516, 11386847, Show More >>	Exon 4	Yes
G6PC1_0175	c.562G>C	p.Gly188Arg	G6PC1	SNV	Missense	Pathogenic	<5	10070617, 10094563, 10322403, Show More >>	Exon 4	Yes
G6PC1_0176	c.562+1G>A	Intronic	G6PC1	SNV	Splice donor	Pathogenic	<5	30890478, 34946936	Intron 4	No
G6PC1_0177	c.562+10G>A	Intronic	G6PC1	SNV	Intronic	Uncertain Significance	<5	11310582, 35811762	Intron 4	Yes
G6PC1_0178	c.563G>T	p.Gly188Val	G6PC1	SNV	Missense	Likely Pathogenic	<5	18449899, 23352793	Exon 5	No
G6PC1_0179	c.563G>A	p.Gly188Asp	G6PC1	SNV	Missense	Pathogenic	<5	10612834, 11386847, 11739393, Show More >>	Exon 5	Yes
G6PC1_0180	c.563-3C>G	Intronic	G6PC1	SNV	Splice region	Uncertain Significance	<5	19762333, 23738826, 29576889, Show More >>	Intron 4	Yes
G6PC1_0181	c.567T>G	p.Ile189Met	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 5	No
G6PC1_0182	c.?	p.Ala190=	G6PC1		Silent	Uncertain Significance	<5	28008009	Exon 5	Unknown
G6PC1_0183	c.572T>C	p.Val191Ala	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 5	No
G6PC1_0184	c.575C>T	p.Ala192Val	G6PC1	SNV	Missense	Uncertain Significance	<5	20447711, 35811762	Exon 5	Yes
G6PC1_0185	c.577G>C	p.Glu193Gln	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009, 34258141	Exon 5	Yes
G6PC1_0186	c.?	p.Ser196Gln	G6PC1		Missense	Uncertain Significance	<5	34035281	Exon 5	Unknown
G6PC1_0187	c.589_590delinsAC	p.His197Thr	G6PC1	Delins	Missense	Uncertain Significance	<5	12093795	Exon 5	No
G6PC1_0188	c.592_593del	p.Ile198Profs*5	G6PC1	Deletion	Frameshift	Pathogenic	<5	25085675	Exon 5	Yes
G6PC1_0189	c.596A>G	p.His199Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	17994282, 26109257	Exon 5	No
G6PC1_0190	c.607A>G	p.Asn203Asp	G6PC1	SNV	Missense	Uncertain Significance	<5	11890686	Exon 5	No
G6PC1_0191	c.607_608delinsGC	p.Asn203Ala	G6PC1	Delins	Missense	Likely Pathogenic	<5	9705299	Exon 5	No
G6PC1_0192	c.626A>C	p.Tyr209Ser	G6PC1	SNV	Missense	Uncertain Significance	<5	34954144	Exon 5	No
G6PC1_0193	c.626A>G	p.Tyr209Cys	G6PC1	SNV	Missense	Likely Pathogenic	<5	15542400, 18449899, 20532819	Exon 5	Yes
G6PC1_0194	c.632T>C	p.Leu211Pro	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 10738525, 10834516, Show More >>	Exon 5	No
G6PC1_0195	c.?	p.Leu211Lys	G6PC1		Missense	Likely Pathogenic	<5	16012821	Exon 5	Unknown
G6PC1_0196	c.638C>T	p.Thr213Ile	G6PC1	SNV	Missense	Uncertain Significance	<5	34258141	Exon 5	Yes
G6PC1_0197	c.648G>T	p.Leu216=	G6PC1	SNV	Silent	Pathogenic	<5	10612834, 11058910, 12373566, Show More >>	Exon 5	Yes
G6PC1_0198	c.648G>A	p.Leu216=	G6PC1	SNV	Silent	Pathogenic	<5	10612834, 11058910, 12373566, Show More >>	Exon 5	No
G6PC1_0199	c.664_665delinsCA	p.Gly222Gln	G6PC1	Delins	Missense	Uncertain Significance	<5	7744838	Exon 5	No
G6PC1_0200	c.664_665delinsTC	p.Gly222Ser	G6PC1	Delins	Missense	Uncertain Significance	<5	7744838	Exon 5	No
G6PC1_0201	c.664_665delinsAA	p.Gly222Lys	G6PC1	Delins	Missense	Uncertain Significance	<5	7744838	Exon 5	No
G6PC1_0202	c.664_665delinsAC	p.Gly222Thr	G6PC1	Delins	Missense	Uncertain Significance	<5	7744838	Exon 5	No
G6PC1_0203	c.664G>A	p.Gly222Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10322403, 10738525, Show More >>	Exon 5	Yes
G6PC1_0204	c.664_666delinsATG	p.Gly222Met	G6PC1	Delins	Missense	Uncertain Significance	<5	7744838	Exon 5	No
G6PC1_0205	c.665G>C	p.Gly222Ala	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009, 34258141	Exon 5	Yes
G6PC1_0206	c.665G>T	p.Gly222Val	G6PC1	SNV	Missense	Uncertain Significance	<5	7744838	Exon 5	No
G6PC1_0207	c.?	p.Gly222Asp	G6PC1		Missense	Uncertain Significance	<5	7744838	Exon 5	Unknown
G6PC1_0208	c.?	p.Gly222Asn	G6PC1		Missense	Uncertain Significance	<5	7744838	Exon 5	Unknown
G6PC1_0209	c.?	p.Gly222Leu	G6PC1		Missense	Uncertain Significance	<5	7744838	Exon 5	Unknown
G6PC1_0210	c.?	p.Gly222Tyr	G6PC1		Missense	Uncertain Significance	<5	7744838	Exon 5	Unknown
G6PC1_0211	c.674T>C	p.Leu225Pro	G6PC1	SNV	Missense	Uncertain Significance	<5	20509832, 30956637, 36167523	Exon 5	Yes
G6PC1_0212	c.706T>A	p.Trp236Arg	G6PC1	SNV	Missense	Pathogenic	<5	10322403, 10738525, 10797430, Show More >>	Exon 5	Yes
G6PC1_0213	c.715del	p.Glu239Argfs*62	G6PC1	Deletion	Frameshift	Pathogenic	<5	11058903, 18449899	Exon 5	No
G6PC1_0214	c.719A>G	p.Lys240Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	19008136, 24745989	Exon 5	No
G6PC1_0215	c.?	p.Lys240Cys	G6PC1		Missense	Uncertain Significance	<5	19008136, 24745989	Exon 5	Unknown
G6PC1_0216	c.721G>A	p.Ala241Thr	G6PC1	SNV	Missense	Likely Pathogenic	<5	11058903, 11739393, 12373566, Show More >>	Exon 5	No
G6PC1_0217	c.724C>T	p.Gln242*	G6PC1	SNV	Nonsense	Pathogenic	<5	10322403, 10612834, 10834516, Show More >>	Exon 5	Yes
G6PC1_0218	c.733T>C	p.Cys245Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 5	No
G6PC1_0219	c.735_742delinsGCGAGCAG	p.Cys245_Pro248delinsTrpArgAlaAla	G6PC1	Delins	Missense	Likely Pathogenic	<5	10322403, 10834516, 11386847, Show More >>	Exon 5	No
G6PC1_0220	c.740A>G	p.Gln247Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 5	No
G6PC1_0221	c.746A>T	p.Glu249Val	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 5	No
G6PC1_0222	c.754_755delinsGC	p.His252Ala	G6PC1	Delins	Missense	Uncertain Significance	<5	12093795, 7744838	Exon 5	No
G6PC1_0223	c.757del	p.Ile253Leufs*48	G6PC1	Deletion	Frameshift	Pathogenic	<5	11739393, 18449899, 31415093	Exon 5	Yes
G6PC1_0224	c.764_765delinsTG	p.Thr255Met	G6PC1	Delins	Missense	Likely Pathogenic	<5	12373566	Exon 5	No
G6PC1_0225	c.764C>T	p.Thr255Ile	G6PC1	SNV	Missense	Likely Pathogenic	<5	11739393, 12373573, 15151508, Show More >>	Exon 5	Yes
G6PC1_0226	c.769C>A	p.Pro257Thr	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 5	Yes
G6PC1_0227	c.770C>T	p.Pro257Leu	G6PC1	SNV	Missense	Likely Pathogenic	<5	10385064, 10748407, 10797430, Show More >>	Exon 5	No
G6PC1_0228	c.772T>C	p.Phe258Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 5	Yes
G6PC1_0229	c.788del	p.Lys263Argfs*38	G6PC1	Deletion	Frameshift	Pathogenic	<5	10834516, 18449899, 35811762	Exon 5	Yes
G6PC1_0230	c.788A>G	p.Lys263Arg	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 5	No
G6PC1_0231	c.792C>A	p.Asn264Lys	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10322403, 10834516, Show More >>	Exon 5	Yes
G6PC1_0232	c.794T>C	p.Leu265Pro	G6PC1	SNV	Missense	Likely Pathogenic	<5	10612834, 10834516, 11386847, Show More >>	Exon 5	No
G6PC1_0233	c.797G>T	p.Gly266Val	G6PC1	SNV	Missense	Likely Pathogenic	<5	10094563, 10737986, 10834516, Show More >>	Exon 5	No
G6PC1_0234	c.800C>T	p.Thr267Met	G6PC1	SNV	Missense	Uncertain Significance	<5	34573280	Exon 5	Yes
G6PC1_0235	c.806_807del	p.Phe269Trpfs*41	G6PC1	Deletion	Frameshift	Pathogenic	<5	20532819	Exon 5	No
G6PC1_0236	c.808G>C	p.Gly270Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	11739393, 18449899, 25492228	Exon 5	Yes
G6PC1_0237	c.809G>T	p.Gly270Val	G6PC1	SNV	Missense	Pathogenic	<5	10070617, 10094563, 10234610, Show More >>	Exon 5	Yes
G6PC1_0238	c.814G>T	p.Gly272Trp	G6PC1	SNV	Missense	Uncertain Significance	<5	20509832, 30956637	Exon 5	No
G6PC1_0239	c.820G>A	p.Ala274Thr	G6PC1	SNV	Missense	Uncertain Significance	<5	29374762, 34082801	Exon 5	Yes
G6PC1_0240	c.821C>T	p.Ala274Val	G6PC1	SNV	Missense	Uncertain Significance	<5	24980439, 30956637, 33344388	Exon 5	Yes
G6PC1_0241	c.826_827delinsGC	p.Asn276Ala	G6PC1	Delins	Missense	Likely Pathogenic	<5	9705299	Exon 5	No
G6PC1_0242	c.826A>G	p.Asn276Asp	G6PC1	SNV	Missense	Uncertain Significance	<5	11890686	Exon 5	No
G6PC1_0243	c.853_854dup	p.Gly286Argfs*16	G6PC1	Duplication	Frameshift	Pathogenic	<5	10944847, 11161844, 18449899	Exon 5	No
G6PC1_0244	c.866G>A	p.Ser289Asn	G6PC1	SNV	Missense	Uncertain Significance	<5	35786777, 35811762	Exon 5	No
G6PC1_0245	c.?	p.Lys290fs	G6PC1		Frameshift	Likely Pathogenic	<5	28008009	Exon 5	Unknown
G6PC1_0246	c.877C>T	p.Pro293Ser	G6PC1	SNV	Missense	Likely Pathogenic	<5	16012821	Exon 5	No
G6PC1_0247	c.882C>A	p.Phe294Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	34258141	Exon 5	Yes
G6PC1_0248	c.883C>T	p.Arg295Cys	G6PC1	SNV	Missense	Likely Pathogenic	<5	10070617, 10322403, 10834516, Show More >>	Exon 5	Yes
G6PC1_0249	c.883C>A	p.Arg295Ser	G6PC1	SNV	Missense	Likely Pathogenic	<5	7744838	Exon 5	No
G6PC1_0250	c.883_884delinsTA	p.Arg295Tyr	G6PC1	Delins	Missense	Likely Pathogenic	<5	7744838	Exon 5	No
G6PC1_0251	c.883_884delinsAT	p.Arg295Ile	G6PC1	Delins	Missense	Likely Pathogenic	<5	7744838	Exon 5	No
G6PC1_0252	c.883_884delinsAA	p.Arg295Asn	G6PC1	Delins	Missense	Likely Pathogenic	<5	7744838	Exon 5	No
G6PC1_0253	c.883_885delinsATG	p.Arg295Met	G6PC1	Delins	Missense	Likely Pathogenic	<5	7744838	Exon 5	No
G6PC1_0254	c.884G>A	p.Arg295His	G6PC1	SNV	Missense	Likely Pathogenic	<5	35811762, 7744838	Exon 5	Yes
G6PC1_0255	c.884G>C	p.Arg295Pro	G6PC1	SNV	Missense	Likely Pathogenic	<5	7744838	Exon 5	No
G6PC1_0256	c.?	p.Arg295Glu	G6PC1		Missense	Likely Pathogenic	<5	7744838	Exon 5	Unknown
G6PC1_0257	c.?	p.Arg295Lys	G6PC1		Missense	Uncertain Significance	<5	7744838	Exon 5	Unknown
G6PC1_0258	c.?	p.Arg295Gln	G6PC1		Missense	Likely Pathogenic	<5	7744838	Exon 5	Unknown
G6PC1_0259	c.892T>C	p.Ser298Pro	G6PC1	SNV	Missense	Pathogenic	<5	10070617, 10834516, 11386847, Show More >>	Exon 5	Yes
G6PC1_0260	c.893C>G	p.Ser298Cys	G6PC1	SNV	Missense	Uncertain Significance	<5	30714174, 34035281, 35243655	Exon 5	No
G6PC1_0261	c.900del	p.Ala301Profs*12	G6PC1	Deletion	Frameshift	Pathogenic	<5	28397058	Exon 5	No
G6PC1_0262	c.902C>T	p.Ala301Val	G6PC1	SNV	Missense	Uncertain Significance	<5	30714174	Exon 5	No
G6PC1_0263	c.910G>A	p.Val304Ile	G6PC1	SNV	Missense	Uncertain Significance	<5	34258141	Exon 5	Yes
G6PC1_0264	c.919_920delinsGC	p.His307Ala	G6PC1	Delins	Missense	Uncertain Significance	<5	12093795	Exon 5	No
G6PC1_0265	c.922G>C	p.Val308Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 5	No
G6PC1_0266	c.922G>A	p.Val308Ile	G6PC1	SNV	Missense	Uncertain Significance	<5	34258141	Exon 5	Yes
G6PC1_0267	c.?	p.Leu312Phe	G6PC1		Missense	Uncertain Significance	<5	34035281	Exon 5	Unknown
G6PC1_0268	c.943C>G	p.Pro315Ala	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 5	Yes
G6PC1_0269	c.961G>C	p.Val321Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 5	No
G6PC1_0270	c.964T>C	p.Phe322Leu	G6PC1	SNV	Missense	Likely Pathogenic	<5	11058903, 11739393, 12373566, Show More >>	Exon 5	Yes
G6PC1_0271	c.965del	p.Phe322Serfs*11	G6PC1	Deletion	Frameshift	Pathogenic	<5	20509832	Exon 5	No
G6PC1_0272	c.966C>A	p.Phe322Leu	G6PC1	SNV	Missense	Likely Pathogenic	<5	11058903, 11739393, 12373566, Show More >>	Exon 5	Yes
G6PC1_0273	c.969C>G	p.Tyr323*	G6PC1	SNV	Nonsense	Pathogenic	<5	23046672, 28008009, 31508908, Show More >>	Exon 5	No
G6PC1_0274	c.969C>A	p.Tyr323*	G6PC1	SNV	Nonsense	Pathogenic	<5	23046672, 28008009, 31508908, Show More >>	Exon 5	Yes
G6PC1_0275	c.976T>C	p.Ser326Pro	G6PC1	SNV	Missense	Uncertain Significance	<5	20509832, 30956637, 32046761	Exon 5	No
G6PC1_0276	c.977C>G	p.Ser326Cys	G6PC1	SNV	Missense	Uncertain Significance	<5	28008009	Exon 5	Yes
G6PC1_0277	c.979_980del	p.Phe327Leufs*48	G6PC1	Deletion	Frameshift	Pathogenic	<5	19762333	Exon 5	No
G6PC1_0278	c.980_982del	p.Phe327del	G6PC1	Deletion	Deletion	Pathogenic	<5	10094563, 10322403, 10612834, Show More >>	Exon 5	Yes
G6PC1_0279	c.986A>T	p.Lys329Met	G6PC1	SNV	Missense	Uncertain Significance	<5	33080702, 35811762	Exon 5	No
G6PC1_0280	c.992C>T	p.Ala331Val	G6PC1	SNV	Missense	Uncertain Significance	<5	28502559, 30890478	Exon 5	Yes
G6PC1_0281	c.993G>C	p.Ala331=	G6PC1	SNV	Silent	Uncertain Significance	<5	34258141	Exon 5	Yes
G6PC1_0282	c.995T>C	p.Val332Ala	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 5	Yes
G6PC1_0283	c.1012G>T	p.Val338Phe	G6PC1	SNV	Missense	Pathogenic	<5	10070617, 10094563, 10737986, Show More >>	Exon 5	Yes
G6PC1_0284	c.1018G>C	p.Val340Leu	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 5	No
G6PC1_0285	c.1022T>A	p.Ile341Asn	G6PC1	SNV	Missense	Pathogenic	<5	10070617, 10322403, 10834516, Show More >>	Exon 5	Yes
G6PC1_0286	c.1034T>G	p.Leu345Arg	G6PC1	SNV	Missense	Likely Pathogenic	<5	10322403, 10738525, 10834516, Show More >>	Exon 5	No
G6PC1_0287	c.1036G>A	p.Ala346Thr	G6PC1	SNV	Missense	Uncertain Significance	<5	31413085	Exon 5	Yes
G6PC1_0288	c.1039C>T	p.Gln347*	G6PC1	SNV	Nonsense	Pathogenic	<5	10070617, 10094563, 10385064, Show More >>	Exon 5	Yes
G6PC1_0289	c.?	p.Gln347Cys	G6PC1		Missense	Uncertain Significance	<5	19815695	Exon 5	Unknown
G6PC1_0290	c.?	p.Leu349*	G6PC1		Nonsense	Pathogenic	<5	18449899, 7744838	Exon 5	Unknown
G6PC1_0291	c.?	p.Gly350*	G6PC1		Nonsense	Likely Pathogenic	<5	18449899, 7744838	Exon 5	Unknown
G6PC1_0292	c.1051C>T	p.Gln351*	G6PC1	SNV	Nonsense	Pathogenic	<5	18449899, 32313153, 7744838	Exon 5	Yes
G6PC1_0293	c.1055C>A	p.Pro352Gln	G6PC1	SNV	Missense	Uncertain Significance	<5	34035281	Exon 5	No
G6PC1_0294	c.1057_1058delinsGC	p.His353Ala	G6PC1	Delins	Missense	Uncertain Significance	<5	12093795, 7744838	Exon 5	No
G6PC1_0295	c.?	p.His353*	G6PC1		Nonsense	Likely Pathogenic	<5	18449899, 7744838	Exon 5	Unknown
G6PC1_0296	c.1063A>T	p.Lys355*	G6PC1	SNV	Nonsense	Likely Pathogenic	<5	18449899, 7744838, 8182131	Exon 5	No
G6PC1_0297	c.1072T>C	p.358Glnext43	G6PC1	SNV	Extension	Uncertain Significance	<5	24355556, 25288127, 29576889	Exon 5	No
G6PC1_0298	c.1074A>C	p.358Tyrext43	G6PC1	SNV	Extension	Uncertain Significance	<5	24355556, 25288127, 29576889	Exon 5	No
G6PC1_0299	c.*23T>C	UTR	G6PC1	SNV	UTR	Benign	<5	24355556, 24677618, 28360385, Show More >>	3' UTR	Yes

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Column Name	Table View	Detail View
Variant ID
Variant
Amino Acid Change
Gene Symbol
Times Observed
Variant Type
Effect Type
Display Variant Classification
Variant Classification Evidence Codes
Phenotype
PMID
Location
Article Count
Protein Domain
Laboratory Classification Last Revised Date
GRCh38
Record Last Revised Date
Present in ClinVar
Laboratory Classification
Predicted Variant Classification
Associated Geography
Variants Seen With

Notes:

Click the PMID number to go to the corresponding publication.
All variants are referencing NM_000151.3 and NM_000151.4 and there is no change between these versions with respect to the coding sequence.
Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.
Don’t see a variant of interest? Contribute data through the Register Variant form.
Explore considerations about Variants of Uncertain Significance (VUS)

Definition of acronyms:

"*": Referenced a stop codon insertion when listed under amino acid change.
CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
SNV: Single DNA nucleotide variant
del: Deletion
dup: Duplication
fs: Frameshift
ins: Insertion

References:

Bali, D.S., et al., Glycogen Storage Disease Type I, in GeneReviews((R)), M.P. Adam, et al., Editors. 1993: Seattle (WA).
Chou, J.Y., H.S. Jun, and B.C. Mansfield, Glycogen storage disease type I and G6Pase-beta deficiency: etiology and therapy. Nat Rev Endocrinol, 2010. 6(12): p. 676-88.
Pan, C.J., et al., Transmembrane topology of glucose-6-phosphatase. J Biol Chem, 1998. 273(11): p. 6144-8.
Lei, K.J., et al., Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science, 1993. 262(5133): p. 580-3.
https://marrvel.org/human/gene/2538 accessed 27 March 2025.
Chou, J.Y. and B.C. Mansfield, Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat, 2008. 29(7): p. 921-30.
Kamolsilp, M. and M. Okubo, G6PC mutations in two patients with glycogen storage disease type Ia in Thailand. Acta Paediatr, 2010. 99(2): p. 164.
Ki, C.S., et al., Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. Clin Genet, 2004. 65(6): p. 487-9.
Trioche, P., et al., Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. Hum Mutat, 2000. 16(5): p. 444.
Barkaoui, E., et al., Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis. J Inherit Metab Dis, 2007. 30(6): p. 989.
Ekstein, J., et al., Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A, 2004. 129A(2): p. 162-4.
Akanuma, J., et al., Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am J Med Genet, 2000. 91(2): p. 107-12.
Scott, E.M., et al., Glycogen storage disease type 1a in the Ohio Amish. JIMD Rep, 2022. 63(5): p. 453-461.

Glycogen Storage Disease Ia

Introduction

Variant List

Gene Structure

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