GUSB

Mucopolysaccharidosis VII

Introduction

The GUSB gene has 12 exons spanning 21kb on chromosome 7q11.21-22 that encodes beta-glucuronidase (GUS), a lysosomal hydrolase.1,2 GUS is involved in the stepwise degradation of glucuronic acid-containing glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate (1, 3).

The 1,953-bp GUSB mRNA encodes a 651–amino acid enzyme precursor that undergoes cleavage of a 22– amino acid N-terminal signal peptide and glycosylation to produce a 78-kDa monomer (2, 4). The monomer is transported to lysosomes where it is further cleaved into the 60-kDa and 18-kDa subunits of the mature active enzyme (5).

Consistent with the multi-organ phenotypes observed in MPS VII, GUS is expressed in the connective tissue of multiple organs and tissues (1, 2). The mature and functional protein is a homotetramer with three domains, a jelly roll-like domain where the lysosomal targeting residues occur, a TIM barrel domain containing the active site, and an immunoglobulin region constant domain (6 , 7).

To date, 318 disease-associated variants have been identified in the GUSB gene and are represented in this database (8).

Variant List

To see more information, click on the variant in the table. 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	Phenotype	PMID	Location

GUSB_0001	c.-131-?_*213+?del	Deletion (Entire coding sequence)	GUSB	CNV	Deletion	Pathogenic	<5
GUSB_0002	c.-131-?_*213+?dup	Gain (Entire coding sequence)	GUSB			Uncertain Significance	5-10	Developmental abnormalities, Dysmorphic features, Gait abnormalities, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities
GUSB_0003	c.-20C>T	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			5' UTR
GUSB_0004	c.-19G>C	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			5' UTR
GUSB_0005	c.-10A>T	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			5' UTR
GUSB_0006	c.1A>C	p.Met1?	GUSB	SNV	Missense	Pathogenic	<5			Exon 1
GUSB_0008	c.1A>G	p.Met1?	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Growth abnormalities, Non-immune hydrops fetalis, Skeletal/muscle abnormalities, Vision		Exon 1
GUSB_0007	c.1-?_1391+?del	Deletion (Exons 1-8)	GUSB	CNV	Deletion	Pathogenic	<5
GUSB_0009	c.7C>T	p.Arg3Trp	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Normal characteristics, Skeletal/muscle abnormalities		Exon 1
GUSB_0010	c.10G>A	p.Gly4Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0012	c.11G>C	p.Gly4Ala	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0011	c.11G>A	p.Gly4Glu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0013	c.13T>C	p.Ser5Pro	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0014	c.14C>T	p.Ser5Leu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0015	c.17C>A	p.Ala6Glu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0016	c.22G>T	p.Ala8Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0017	c.24del	p.Trp9Glyfs*97	GUSB	Deletion	Frameshift	Pathogenic	<5			Exon 1
GUSB_0018	c.35T>C	p.Leu12Pro	GUSB	SNV	Missense	Uncertain Significance	<5	Non-immune hydrops fetalis	33027564	Exon 1
GUSB_0019	c.38G>A	p.Gly13Glu	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Gait abnormalities, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 1
GUSB_0020	c.45G>A	p.Leu15=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 1
GUSB_0021	c.50G>C	p.Trp17Ser	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Hepatosplenomegaly, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision	3, 468, 618, Show More >>	Exon 1
GUSB_0022	c.58_70del	p.Ala20Argfs*82	GUSB	Deletion	Frameshift	Likely Pathogenic	<5			Exon 1
GUSB_0023	c.88C>T	p.Pro30Ser	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Growth abnormalities, Hepatosplenomegaly, Respiratory abnormalities, Skeletal/muscle abnormalities		Exon 1
GUSB_0024	c.91C>A	p.Gln31Lys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0025	c.104C>A	p.Ser35*	GUSB	SNV	Nonsense	Likely Pathogenic	<5	Cardiac abnormalities, Growth abnormalities, Hearing abnormalities, Hepatospleno Show More >>	33897756, 34420841	Exon 1
GUSB_0026	c.107G>T	p.Arg36Leu	GUSB	SNV	Missense	Likely Pathogenic	<5	Non-immune hydrops fetalis	33598246	Exon 1
GUSB_0027	c.112T>G	p.Cys38Gly	GUSB	SNV	Missense	Uncertain Significance	<5	Skeletal/muscle abnormalities	9490302	Exon 1
GUSB_0028	c.112T>C	p.Cys38Arg	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Skeletal/muscle abnormalities		Exon 1
GUSB_0029	c.148G>T	p.Asp50Tyr	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Growth abnormalities, Hearing abnormalities, Non-immune hyd Show More >>	26908836	Exon 1
GUSB_0030	c.151T>A	p.Phe51Ile	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0031	c.155C>T	p.Ser52Phe	GUSB	SNV	Missense	Pathogenic	<5	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Gait ab Show More >>	21743015, 33045360, 9099834	Exon 1
GUSB_0032	c.157G>A	p.Asp53Asn	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 1
GUSB_0033	c.161A>G	p.Asn54Ser	GUSB	SNV	Missense	Pathogenic	<5	Cardiac abnormalities, Dysmorphic features, Growth abnormalities, Hearing abnorm Show More >>		Exon 1
GUSB_0034	c.163C>T	p.Arg55*	GUSB	SNV	Nonsense	Pathogenic	<5	Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 1
GUSB_0035	c.169C>G	p.Arg57Gly	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Neurological abnormalities, Skeletal/muscle abnormalities		Exon 1
GUSB_0036	c.170G>T	p.Arg57Leu	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Gait abnormalities, Growth abn Show More >>		Exon 1
GUSB_0038	c.185A>G	p.Gln62Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0037	c.185A>C	p.Gln62Pro	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Growth abnormalities, Skeletal/muscle abnormalities		Exon 1
GUSB_0040	c.?	p.Trp63*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 1
GUSB_0039	c.189G>A	p.Trp63*	GUSB	SNV	Nonsense	UNKNOWN	<5		29966168	Exon 1
GUSB_0041	c.190T>C	p.Tyr64His	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 1
GUSB_0042	c.196C>T	p.Arg66Trp	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Growth abnormalities, Skeletal/muscle abnormalities		Exon 1
GUSB_0043	c.200C>T	p.Pro67Leu	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Hearing abnormalities, Hepatosplenomegaly, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision	31732130	Exon 1
GUSB_0046	c.210+11G>C	Intronic	GUSB	SNV	Intronic	Uncertain Significance	<5			Intron 1
GUSB_0044	c.210+5G>A	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5	Skeletal/muscle abnormalities		Intron 1
GUSB_0045	c.210+1G>A	Intronic	GUSB	SNV	Splice donor	Pathogenic	<5	Non-immune hydrops fetalis	33027564	Intron 1
GUSB_0048	c.211_214del	p.Ser71Alafs*34	GUSB	Deletion	Frameshift	Pathogenic	<5	Developmental abnormalities, Growth abnormalities, Skeletal/muscle abnormalities	31603145	Exon 2
GUSB_0047	c.211-8C>G	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 1
GUSB_0049	c.229A>G	p.Met77Val	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0050	c.230T>G	p.Met77Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0051	c.238C>G	p.Pro80Ala	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0330	c.239C>T	p.Pro80Leu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0052	c.245G>A	p.Ser82Asn	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Growth abnormalities, Skeletal/muscle abnormalities		Exon 2
GUSB_0053	c.251A>G	p.Asn84Ser	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities		Exon 2
GUSB_0054	c.266A>G	p.Asp89Gly	GUSB	SNV	Missense	Uncertain Significance	<5	Hearing abnormalities	26908836	Exon 2
GUSB_0055	c.269G>C	p.Trp90Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0056	c.290G>C	p.Gly97Ala	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Growth abnormalities, Hepatosplenomegaly, Respiratory abnormalities, Skeletal/muscle abnormalities		Exon 2
GUSB_0057	c.295G>A	p.Val99Met	GUSB	SNV	Missense	Uncertain Significance	5-10	Developmental abnormalities, Dysmorphic features, Hearing abnormalities, Skeletal/muscle abnormalities, Vision	26908836, 30083803	Exon 2
GUSB_0058	c.307C>T	p.Arg103Trp	GUSB	SNV	Missense	Likely Pathogenic	<5	Non-immune hydrops fetalis	26036949, 31130284	Exon 2
GUSB_0059	c.323C>T	p.Pro108Leu	GUSB	SNV	Missense	Uncertain Significance	<5	Non-immune hydrops fetalis	33897756	Exon 2
GUSB_0060	c.324G>A	p.Pro108=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 2
GUSB_0061	c.328C>T	p.Arg110*	GUSB	SNV	Nonsense	Pathogenic	<5	Non-immune hydrops fetalis	9099834	Exon 2
GUSB_0062	c.338A>G	p.Gln113Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0063	c.347G>A	p.Arg116His	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0064	c.352A>G	p.Arg118Gly	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0065	c.?	p.Arg122Ser	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Hearing abnormalities, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision		Exon 2
GUSB_0066	c.366G>C	p.Arg122Ser	GUSB	SNV	Missense	Uncertain Significance	5-10			Exon 2
GUSB_0067	c.370G>C	p.Gly124Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0068	c.373A>C	p.Ser125Arg	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Growth abnormalities, Skeletal/muscle abnormalities		Exon 2
GUSB_0069	c.380A>G	p.His127Arg	GUSB	SNV	Missense	Uncertain Significance	5-10	Dysmorphic features, Hearing abnormalities, Hepatosplenomegaly, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision		Exon 2
GUSB_0070	c.383C>T	p.Ser128Phe	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Growth abnormalities, Skeletal/muscle abnormalities		Exon 2
GUSB_0071	c.388G>A	p.Ala130Thr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0072	c.394G>A	p.Val132Met	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 2
GUSB_0073	c.396+1G>A	Intronic	GUSB	SNV	Splice donor	Likely Pathogenic	<5	Dysmorphic features, Growth abnormalities, Neurological abnormalities, Skeletal/muscle abnormalities		Intron 2
GUSB_0074	c.398G>C	p.Trp133Ser	GUSB	SNV	Missense	Likely Pathogenic	<5	Non-immune hydrops fetalis	26036949	Exon 3
GUSB_0075	c.406G>A	p.Gly136Arg	GUSB	SNV	Missense	Likely Pathogenic	<5		8644704	Exon 3
GUSB_0076	c.409G>T	p.Val137Phe	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 3
GUSB_0078	c.422A>C	p.Glu141Ala	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Hearing abnormalities, Hepatosplenomegaly, Skeletal/muscle abnormalities	31661765	Exon 3
GUSB_0077	c.422_424delAGCinsCGT	p.Glu141_His142delinsAlaTyr	GUSB	Delins	Missense	UNKNOWN	<5			Exon 3
GUSB_0079	c.424C>T	p.His142Tyr	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Hearing abnormalities, Hepatosplenomegaly, Skeletal/muscle abnormalities	31661765	Exon 3
GUSB_0080	c.429G>T	p.Glu143Asp	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 3
GUSB_0081	c.430G>T	p.Gly144Trp	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 3
GUSB_0082	c.431G>C	p.Gly144Ala	GUSB	SNV	Missense	UNKNOWN	<5	Cardiac abnormalities, Dysmorphic features, Hearing abnormalities, Skeletal/muscle abnormalities		Exon 3
GUSB_0083	c.442C>T	p.Pro148Ser	GUSB	SNV	Missense	Pathogenic	<5	Hepatosplenomegaly, Respiratory abnormalities	7633414	Exon 3
GUSB_0084	c.448G>A	p.Glu150Lys	GUSB	SNV	Missense	Likely Pathogenic	<5		8644704	Exon 3
GUSB_0085	c.450G>C	p.Glu150Asp	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Gait abnormalities, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities, Vision		Exon 3
GUSB_0086	c.454G>A	p.Asp152Asn	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Skeletal/muscle abnormalities	9490302	Exon 3
GUSB_0087	c.455A>G	p.Asp152Gly	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 3
GUSB_0088	c.464_475del	p.Asn155_Val159delinsMet	GUSB	Deletion	Deletion	Uncertain Significance	<5			Exon 3
GUSB_0089	c.465C>G	p.Asn155Lys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 3
GUSB_0090	c.479_480delGG	p.Gly160Alafs*31	GUSB	Deletion	Frameshift	Likely Pathogenic	<5			Exon 3
GUSB_0091	c.?	p.Leu162fs	GUSB		Unknown	Likely Pathogenic	<5			Exon 3
GUSB_0092	c.493C>T	p.Arg165Trp	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Growth abnormalities, Neurolog Show More >>		Exon 3
GUSB_0093	c.499C>G	p.Arg167Gly	GUSB	SNV	Missense	UNKNOWN	<5	Dysmorphic features, Gait abnormalities, Skeletal/muscle abnormalities, Vision		Exon 3
GUSB_0094	c.499C>T	p.Arg167*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 3
GUSB_0095	c.518A>G	p.Asn173Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 3
GUSB_0096	c.526C>T	p.Leu176Phe	GUSB	SNV	Missense	Pathogenic	30+	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Gait ab Show More >>	12859417, 26908836, 29930972, Show More >>	Exon 3
GUSB_0097	c.530C>T	p.Thr177Ile	GUSB	SNV	Missense	Pathogenic	<5	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Gait ab Show More >>	34686181	Exon 3
GUSB_0098	c.531C>A	p.Thr177=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 3
GUSB_0099	c.532C>T	p.Pro178Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 3
GUSB_0100	c.532C>A	p.Pro178Thr	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 3
GUSB_0101	c.536C>T	p.Thr179Ile	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 3
GUSB_0102	c.553A>C	p.Thr185Pro	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Gait abnormalities, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 3
GUSB_0103	c.560_581+13del	Intronic	GUSB	Deletion	Deletion	Likely Pathogenic	<5	Dysmorphic features, Growth abnormalities, Normal characteristics		Exon 3, Intron 3
GUSB_0104	c.581+1G>A	Intronic	GUSB	SNV	Splice donor	Pathogenic	<5			Intron 3
GUSB_0106	c.582-3T>G	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 3
GUSB_0105	c.582-15G>A	Intronic	GUSB	SNV	Intronic	Uncertain Significance	<5			Intron 3
GUSB_0107	c.583T>C	p.Tyr195His	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 4
GUSB_0108	c.604C>T	p.Gln202*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 4
GUSB_0109	c.613T>C	p.Tyr205His	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 4
GUSB_0110	c.614A>G	p.Tyr205Cys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 4
GUSB_0111	c.625T>C	p.Phe209Leu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 4
GUSB_0112	c.634G>A	p.Ala212Thr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 4
GUSB_0113	c.646C>T	p.Arg216Trp	GUSB	SNV	Missense	Pathogenic	<5	Non-immune hydrops fetalis	8111412, 8644704, 9099834	Exon 4
GUSB_0114	c.647G>A	p.Arg216Gln	GUSB	SNV	Missense	Likely Pathogenic	<5	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision	30653816	Exon 4
GUSB_0115	c.658C>G	p.Leu220Val	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 4
GUSB_0116	c.694A>G	p.Thr232Ala	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Skeletal/muscle abnormalities		Exon 4
GUSB_0117	c.695C>G	p.Thr232Ser	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 4
GUSB_0118	c.695C>T	p.Thr232Ile	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 4
GUSB_0119	c.697G>A	p.Val233Ile	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 4
GUSB_0120	c.724+1G>T	Intronic	GUSB	SNV	Splice donor	Likely Pathogenic	<5			Intron 4
GUSB_0122	c.728T>C	p.Leu243Pro	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 5
GUSB_0121	c.728T>A	p.Leu243Gln	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 5
GUSB_0123	c.738C>G	p.Tyr246*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 5
GUSB_0124	c.739C>G	p.Gln247Glu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 5
GUSB_0125	c.741G>A	p.Gln247=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 5
GUSB_0126	c.760A>C	p.Asn254His	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Skeletal/muscle abnormalities		Exon 5
GUSB_0127	c.764T>A	p.Leu255Gln	GUSB	SNV	Missense	Uncertain Significance	5-10	Cardiac abnormalities, Dysmorphic features, Gait abnormalities, Growth abnormali Show More >>		Exon 5
GUSB_0128	c.766T>C	p.Phe256Leu	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Gait abnormalities, Neurological abnormalities, Skeletal/muscle abnormalities		Exon 5
GUSB_0129	c.781C>G	p.Arg261Gly	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 5
GUSB_0130	c.805G>C	p.Val269Leu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 5
GUSB_0131	c.808G>A	p.Val270Met	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 5
GUSB_0133	c.812C>T	p.Ala271Val	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Skeletal/muscle abnormalities		Exon 5
GUSB_0132	c.812C>A	p.Ala271Glu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 5
GUSB_0134	c.820_821delAC	p.Thr274Trpfs*7	GUSB	Deletion	Frameshift	Pathogenic	<5			Exon 5
GUSB_0135	c.863G>T	p.Trp288Leu	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Gait abnormalities, Growth abnormali Show More >>	25468648	Exon 5
GUSB_0136	c.866G>A	p.Trp289*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 5
GUSB_0138	c.?	p.Trp289*	GUSB	SNV	Nonsense	Pathogenic	<5	Developmental abnormalities, Hearing abnormalities	26908836	Exon 5
GUSB_0137	c.867G>A	p.Trp289*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 5
GUSB_0139	c.871T>A	p.Tyr291Asn	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 5
GUSB_0140	c.875T>C	p.Leu292Pro	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Gait abnormalities, Hepatosplenomegaly, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision		Exon 5
GUSB_0141	c.893C>T	p.Ala298Val	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 5
GUSB_0142	c.896A>G	p.Tyr299Cys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 5
GUSB_0143	c.898C>G	p.Leu300Val	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 5
GUSB_0144	c.918G>T	p.Gln306His	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Growth abnormalities, Neurological abnormalities, Skeletal/muscle abnormalities		Exon 6
GUSB_0145	c.932dup	p.Ser312Valfs*7	GUSB	Duplication	Frameshift	Pathogenic	<5			Exon 6
GUSB_0146	c.935C>A	p.Ser312*	GUSB	SNV	Nonsense	Pathogenic	<5	Non-immune hydrops fetalis	8644704	Exon 6
GUSB_0147	c.953A>G	p.Asp318Gly	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Skeletal/muscle abnormalities		Exon 6
GUSB_0148	c.955T>C	p.Phe319Leu	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Neurological abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 6
GUSB_0149	c.956T>C	p.Phe319Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 6
GUSB_0151	c.959A>G	p.Tyr320Cys	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 6
GUSB_0150	c.959A>C	p.Tyr320Ser	GUSB	SNV	Missense	Likely Pathogenic	<5	Cardiac abnormalities, Dysmorphic features, Hepatosplenomegaly	8644704	Exon 6
GUSB_0152	c.964C>T	p.Leu322Phe	GUSB	SNV	Missense	Uncertain Significance	5-10	Dysmorphic features, Hearing abnormalities, Hepatosplenomegaly, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision		Exon 6
GUSB_0153	c.970G>A	p.Val324Met	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Growth abnormalities, Neurological abnormalities, Skeletal/muscle abnormalities		Exon 6
GUSB_0156	c.?	p.Arg327*	GUSB	Delins	Nonsense	Likely Pathogenic	<5			Exon 6
GUSB_0154	c.979C>T	p.Arg327Cys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 6
GUSB_0155	c.980G>T	p.Arg327Leu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 6
GUSB_0157	c.988G>T	p.Ala330Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 6
GUSB_0158	c.1016A>G	p.Asn339Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 6
GUSB_0159	c.1024C>T	p.Pro342Ser	GUSB	SNV	Missense	Uncertain Significance	<5		29966168	Exon 6
GUSB_0331	c.1046A>G	p.Asn349Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 6
GUSB_0161	c.1050G>A	p.Lys350=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 6
GUSB_0160	c.1050G>C	p.Lys350Asn	GUSB	SNV	Missense	Pathogenic	<5			Exon 6
GUSB_0162	c.?	p.Lys350Asn	GUSB	SNV	Missense	Pathogenic	<5	Developmental abnormalities, Dysmorphic features, Gait abnormalities, Growth abn Show More >>	12522561	Exon 6
GUSB_0163	c.1051C>T	p.His351Tyr	GUSB	SNV	Missense	Pathogenic	<5	Cardiac abnormalities, Dysmorphic features, Hepatosplenomegaly, Skeletal/muscle abnormalities	8644704	Exon 6
GUSB_0164	c.1061C>T	p.Ala354Val	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Hepatosplenomegaly, Non-immune hydrops fetalis, Skeletal/muscle abnormalities	8111413	Exon 6
GUSB_0167	c.1065+4T>C	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 6
GUSB_0166	c.1065+1G>A	Intronic	GUSB	SNV	Splice donor	Pathogenic	<5			Intron 6
GUSB_0165	c.1065C>T	p.Asp355=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 6
GUSB_0168	c.1066-5C>T	Intronic	GUSB	SNV	Splice region	Conflict	<5			Intron 6
GUSB_0169	c.1069C>T	p.Arg357*	GUSB	SNV	Nonsense	Pathogenic	5-10	Cardiac abnormalities, Developmental abnormalities, Hepatosplenomegaly, Non-immu Show More >>	26036949, 7680524, 8644704, Show More >>	Exon 7
GUSB_0172	c.1084_1110del	p.Asp362_Phe370del	GUSB	Deletion	Deletion	Likely Pathogenic	<5	Non-immune hydrops fetalis	34974531, 9099834	Exon 7
GUSB_0171	c.1084G>C	p.Asp362His	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 7
GUSB_0170	c.1084G>A	p.Asp362Asn	GUSB	SNV	Missense	Pathogenic	<5	Hearing abnormalities, Non-immune hydrops fetalis	26908836, 33686258	Exon 7
GUSB_0173	c.1091C>T	p.Pro364Leu	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Non-immune hydrops fetalis, Normal characteristics, Skeletal/muscle abnormalities	33897756	Exon 7
GUSB_0174	c.1091C>G	p.Pro364Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 7
GUSB_0175	c.1120C>T	p.Arg374Cys	GUSB	SNV	Missense	Pathogenic	5-10	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Gait ab Show More >>	21743015, 28770119, 33045360, Show More >>	Exon 7
GUSB_0176	c.1121G>T	p.Arg374Leu	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 7
GUSB_0177	c.1121G>A	p.Arg374His	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities		Exon 7
GUSB_0332	c.1123T>C	p.Trp375Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 7
GUSB_0179	c.1135A>G	p.Asn379Asp	GUSB	SNV	Missense	Uncertain Significance	<5	Non-immune hydrops fetalis	28207930	Exon 7
GUSB_0178	c.1135A>T	p.Asn379Tyr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 7
GUSB_0180	c.1136A>G	p.Asn379Ser	GUSB	SNV	Missense	Pathogenic	<5	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Growth Show More >>		Exon 7
GUSB_0181	c.1138G>A	p.Ala380Thr	GUSB	SNV	Missense	Uncertain Significance	<5	Skeletal/muscle abnormalities		Exon 7
GUSB_0182	c.1144C>T	p.Arg382Cys	GUSB	SNV	Missense	Likely Pathogenic	5-10	Developmental abnormalities, Growth abnormalities, Hearing abnormalities, Non-immune hydrops fetalis, Skeletal/muscle abnormalities	1702266, 26036949, 26908836, Show More >>	Exon 7
GUSB_0183	c.1145G>A	p.Arg382His	GUSB	SNV	Missense	Likely Pathogenic	<5	Developmental abnormalities, Dysmorphic features, Gait abnormalities, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision	31497474, 8644704	Exon 7
GUSB_0184	c.1151G>A	p.Ser384Asn	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 7
GUSB_0185	c.1161C>G	p.Pro387=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 7
GUSB_0186	c.1169A>G	p.Glu390Gly	GUSB	SNV	Missense	Uncertain Significance	<5	Neurological abnormalities	29930972	Exon 7
GUSB_0187	c.1192C>T	p.Arg398Cys	GUSB	SNV	Missense	Uncertain Significance	<5	Non-immune hydrops fetalis	33897756	Exon 7
GUSB_0188	c.1193G>A	p.Arg398His	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 7
GUSB_0189	c.1213G>A	p.Asp405Asn	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 7
GUSB_0190	c.1216G>C	p.Glu406Gln	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 7
GUSB_0191	c.1219_1220insC	p.Cys407Serfs*30	GUSB	Insertion	Frameshift	Pathogenic	<5			Exon 7
GUSB_0192	c.1222C>T	p.Pro408Ser	GUSB	SNV	Missense	Pathogenic	<5	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Growth Show More >>	26908836	Exon 7
GUSB_0193	c.1232G>A	p.Gly411Asp	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 7
GUSB_0194	c.1238C>T	p.Ala413Val	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 7
GUSB_0195	c.1240C>T	p.Leu414=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 7
GUSB_0198	c.1244+3G>C	Intronic	GUSB	SNV	Splice region	UNKNOWN	<5	Dysmorphic features, Gait abnormalities, Skeletal/muscle abnormalities, Vision		Intron 7
GUSB_0196	c.1244+1G>A	Intronic	GUSB	SNV	Splice donor	Pathogenic	<5	Non-immune hydrops fetalis	9099834	Intron 7
GUSB_0197	c.1244C>T	p.Pro415Leu	GUSB	SNV	Missense	Pathogenic	<5	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Growth Show More >>	26908836	Exon 7
GUSB_0201	c.1245del	p.Gln416Serfs*14	GUSB	Deletion	Frameshift	Pathogenic	<5			Exon 8
GUSB_0200	c.1245-4G>A	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 7
GUSB_0199	c.1245-4G>T	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 7
GUSB_0202	c.1253T>G	p.Phe418Cys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0204	c.1270C>A	p.His424Asn	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Gait abnormalities, Growth abn Show More >>		Exon 8
GUSB_0203	c.1270C>T	p.His424Tyr	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Growth Show More >>	30653816, 31603145	Exon 8
GUSB_0205	c.1273C>A	p.His425Asn	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0206	c.1285G>A	p.Val429Met	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0207	c.1285G>T	p.Val429Leu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0208	c.1288A>C	p.Met430Leu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0209	c.1289T>C	p.Met430Thr	GUSB	SNV	Missense	Pathogenic	<5	Skeletal/muscle abnormalities		Exon 8
GUSB_0210	c.1291G>A	p.Glu431Lys	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Growth abnormalities, Neurolog Show More >>		Exon 8
GUSB_0211	c.1303C>T	p.Arg435Cys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0213	c.1304G>A	p.Arg435His	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0212	c.1304G>C	p.Arg435Pro	GUSB	SNV	Missense	Likely Pathogenic	<5	Non-immune hydrops fetalis	8644704	Exon 8
GUSB_0214	c.1324G>A	p.Ala442Thr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0215	c.1324_1325delinsTG	p.Ala442Trp	GUSB	Delins	Missense	Uncertain Significance	<5			Exon 8
GUSB_0216	c.1325C>T	p.Ala442Val	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Hearing abnormalities, Hepatosplenom Show More >>	31732130, 34686181, 30091163	Exon 8
GUSB_0217	c.1330G>C	p.Val444Leu	GUSB	SNV	Missense	UNKNOWN	<5	Non-immune hydrops fetalis	8644704	Exon 8
GUSB_0218	c.1330G>A	p.Val444Met	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Growth abnormalities, Neurological abnormalities, Skeletal/muscle abnormalities		Exon 8
GUSB_0219	c.1337G>A	p.Trp446*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 8
GUSB_0221	c.1338G>A	p.Trp446*	GUSB	SNV	Nonsense	Pathogenic	<5		9490302, 9921904	Exon 8
GUSB_0220	c.1338G>T	p.Trp446Cys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0222	c.?	p.Ser447Glu	GUSB	Delins	Missense	Uncertain Significance	<5			Exon 8
GUSB_0223	c.1349A>G	p.Asn450Ser	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 8
GUSB_0224	c.1358C>T	p.Ala453Val	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0225	c.1382A>T	p.Tyr461Phe	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 8
GUSB_0226	c.1387T>G	p.Leu463Val	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Hepatosplenomegaly	34686181	Exon 8
GUSB_0227	c.1391+5G>A	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 8
GUSB_0228	c.1391+618_1391+619del	Intronic	GUSB	Deletion	Intronic	Pathogenic	<5		9490302, 9921904	Intron 8
GUSB_0230	c.1392-?_1476+?del	Deletion (Exon 9)	GUSB	Copy Number Loss	Deletion	Pathogenic	<5	Non-immune hydrops fetalis	33027564	Exon 9
GUSB_0229	c.1392-181_1476+174del440	p.Met465Leufs*6	GUSB	Copy Number Loss	Deletion	UNKNOWN	<5			Exon 9, Intron 8-9
GUSB_0231	c.1412A>C	p.Lys471Thr	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Gait abnormalities, Growth abnormali Show More >>		Exon 9
GUSB_0232	c.1415C>A	p.Ser472Tyr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 9
GUSB_0233	c.1423C>A	p.Pro475Thr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 9
GUSB_0234	c.1429C>T	p.Arg477Trp	GUSB	SNV	Missense	Pathogenic	<5	Non-immune hydrops fetalis	8644704	Exon 9
GUSB_0235	c.1430G>A	p.Arg477Gln	GUSB	SNV	Missense	Uncertain Significance	<5	Skeletal/muscle abnormalities		Exon 9
GUSB_0236	c.1430G>C	p.Arg477Pro	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 9
GUSB_0238	c.1454C>T	p.Ser485Phe	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Gait abnormalities, Growth abnormali Show More >>	25468648, 34420841	Exon 9
GUSB_0237	c.1454_1455del	p.Ser485*	GUSB	Deletion	Frameshift	Pathogenic	<5			Exon 9
GUSB_0239	c.1457_1460del	p.Asn486Metfs*12	GUSB	Deletion	Frameshift	Pathogenic	<5			Exon 9
GUSB_0240	c.1461T>C	p.Tyr487=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 9
GUSB_0241	c.1468G>A	p.Asp490Asn	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 9
GUSB_0242	c.1469A>G	p.Asp490Gly	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 9
GUSB_0244	c.1476+3G>A	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 9
GUSB_0243	c.1476_1476+13del	Intronic	GUSB	Deletion	Deletion	Likely Pathogenic	<5			Exon 9, Intron 9
GUSB_0245	c.1477-5C>G	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5	Cardiac abnormalities, Developmental abnormalities, Growth abnormalities, Neurological abnormalities		Intron 9
GUSB_0246	c.1477-70C>T	Intronic	GUSB	SNV	Intronic	UNKNOWN	<5			Intron 9
GUSB_0247	c.1480_1484del	p.Pro494Cysfs*31	GUSB	Deletion	Frameshift	UNKNOWN	<5	Non-immune hydrops fetalis	9099834	Exon 10
GUSB_0248	c.1484A>G	p.Tyr495Cys	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Growth abnormalities, Hepatosplenomegaly, Normal characteristics, Respiratory abnormalities	7633414	Exon 10
GUSB_0249	c.1486G>T	p.Val496Leu	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Hepatosplenomegaly, Neurologic Show More >>	34686181	Exon 10
GUSB_0250	c.?	p.Asp497Glu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0251	c.1499G>T	p.Cys500Phe	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Neurological abnormalities, Skeletal/muscle abnormalities, Vision	35123515	Exon 10
GUSB_0253	c.?	p.Asn502Lys	GUSB	SNV	Missense	Uncertain Significance	<5	Cardiac abnormalities, Dysmorphic features, Hearing abnormalities, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision		Exon 10
GUSB_0252	c.1506C>A	p.Asn502Lys	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0254	c.?	p.Ser503Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0255	c.1516_1517delinsGG	p.Ser506Gly	GUSB	Delins	Missense	Uncertain Significance	<5			Exon 10
GUSB_0256	c.1520G>A	p.Trp507*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 10
GUSB_0257	c.1521G>A	p.Trp507*	GUSB	SNV	Nonsense	Pathogenic	<5	Dysmorphic features, Hepatosplenomegaly, Non-immune hydrops fetalis, Respiratory abnormalities, Skeletal/muscle abnormalities	7633414, 8644704	Exon 10
GUSB_0258	c.1523A>G	p.Tyr508Cys	GUSB	SNV	Missense	Likely Pathogenic	<5	Developmental abnormalities, Dysmorphic features, Gait abnormalities, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision	31497474, 8644704	Exon 10
GUSB_0259	c.1524T>C	p.Tyr508=	GUSB	SNV	Silent	Uncertain Significance	<5			Exon 10
GUSB_0260	c.1526A>C	p.His509Pro	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0261	c.1527C>A	p.His509Gln	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0262	c.1534G>A	p.Gly512Arg	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Growth abnormalities, Non-immune hydrops fetalis, Skeletal/muscle abnormalities, Vision		Exon 10
GUSB_0263	c.1537C>G	p.His513Asp	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0264	c.1561C>G	p.Leu521Val	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0265	c.1574T>C	p.Phe525Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0266	c.1583G>A	p.Trp528*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 10
GUSB_0267	c.1586A>G	p.Tyr529Cys	GUSB	SNV	Missense	Likely Pathogenic	<5	Non-immune hydrops fetalis	26036949	Exon 10
GUSB_0268	c.1610T>C	p.Ile537Thr	GUSB	SNV	Missense	Uncertain Significance	<5	Non-immune hydrops fetalis	33897756	Exon 10
GUSB_0269	c.1613A>T	p.Gln538Leu	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0270	c.1614G>C	p.Gln538His	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0271	c.1616G>C	p.Ser539Thr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 10
GUSB_0272	c.1617C>T	p.Ser539=	GUSB	SNV	Silent	Pathogenic	<5	Dysmorphic features, Growth abnormalities, Non-immune hydrops fetalis, Normal ch Show More >>	30442200	Exon 10
GUSB_0274	c.1618G>T	p.Glu540*	GUSB	SNV	Nonsense	Pathogenic	<5			Exon 10
GUSB_0273	c.1618G>A	p.Glu540Lys	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 10
GUSB_0275	c.1643_1680del	p.Gly548Valfs*35	GUSB	Copy Number Loss	Deletion	UNKNOWN	<5	Dysmorphic features, Hepatosplenomegaly, Respiratory abnormalities, Skeletal/muscle abnormalities	7633414	Exon 10-11, Intron 10
GUSB_0276	c.1651C>T	p.Gln551*	GUSB	SNV	Nonsense	Pathogenic	<5	Non-immune hydrops fetalis	34974531	Exon 10
GUSB_0277	c.1653+151A>G	Intronic	GUSB	SNV	Intronic	UNKNOWN	<5			Intron 10
GUSB_0278	c.1654-3T>C	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 10
GUSB_0279	c.1654-7A>G	Intronic	GUSB	SNV	Splice region	Uncertain Significance	<5			Intron 10
GUSB_0281	c.1693_1694delinsGC	p.Leu565Ala	GUSB	Delins	Missense	Uncertain Significance	<5			Exon 11
GUSB_0280	c.1693C>G	p.Leu565Val	GUSB	SNV	Missense	Uncertain Significance	<5	Hearing abnormalities	26908836	Exon 11
GUSB_0282	c.1703A>G	p.Gln568Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 11
GUSB_0283	c.1715G>A	p.Gly572Asp	GUSB	SNV	Missense	Likely Pathogenic	<5	Non-immune hydrops fetalis	8644704	Exon 11
GUSB_0284	c.1730G>T	p.Arg577Leu	GUSB	SNV	Missense	Pathogenic	<5	Developmental abnormalities, Dysmorphic features, Gait abnormalities, Growth abn Show More >>	12522561	Exon 11
GUSB_0285	c.1741G>A	p.Val581Met	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Neurological abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 11
GUSB_0286	c.1742T>C	p.Val581Ala	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 11
GUSB_0287	c.1747G>A	p.Gly583Arg	GUSB	SNV	Missense	Likely Pathogenic	<5	Non-immune hydrops fetalis, Skeletal/muscle abnormalities	33686258, 34686181	Exon 11
GUSB_0288	c.1760G>C	p.Trp587Ser	GUSB	SNV	Missense	Uncertain Significance	<5	Developmental abnormalities, Dysmorphic features, Hepatosplenomegaly, Neurologic Show More >>	34686181	Exon 11
GUSB_0289	c.1775T>A	p.Phe592Tyr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 11
GUSB_0290	c.1775del	p.Phe592Serfs*2	GUSB	Deletion	Frameshift	Pathogenic	<5		9490302	Exon 11
GUSB_0291	c.1780_1781delinsCT	p.Thr594Leu	GUSB	Delins	Missense	Uncertain Significance	<5			Exon 11
GUSB_0292	c.1783del	p.Glu595Asnfs*45	GUSB	Deletion	Frameshift	Likely Pathogenic	<5			Exon 11
GUSB_0293	c.1786del	p.Gln596Serfs*44	GUSB	Deletion	Frameshift	Uncertain Significance	<5			Exon 11
GUSB_0294	c.1790-2dup	Intronic	GUSB	Duplication	Splice region	Uncertain Significance	<5	Growth abnormalities, Skeletal/muscle abnormalities		Intron 11
GUSB_0295	c.1790-5dup	Intronic	GUSB	Duplication	Splice region	Uncertain Significance	<5			Intron 11
GUSB_0296	c.1792C>G	p.Pro598Ala	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 12
GUSB_0297	c.1796C>T	p.Thr599Met	GUSB	SNV	Missense	Uncertain Significance	<5	Gait abnormalities, Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 12
GUSB_0298	c.1811A>G	p.Asn604Ser	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 12
GUSB_0299	c.1816A>G	p.Lys606Glu	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Normal characteristics, Skeletal/muscle abnormalities		Exon 12
GUSB_0300	c.?	p.Lys606Phe	GUSB	Delins	Missense	Uncertain Significance	<5			Exon 12
GUSB_0301	c.1818G>C	p.Lys606Asn	GUSB	SNV	Missense	Likely Pathogenic	<5	Cardiac abnormalities, Dysmorphic features, Hearing abnormalities, Skeletal/muscle abnormalities, Vision	8644704	Exon 12
GUSB_0302	c.1820G>C	p.Gly607Ala	GUSB	SNV	Missense	Likely Pathogenic	<5	Developmental abnormalities, Dysmorphic features, Gait abnormalities, Growth abn Show More >>	36299251	Exon 12
GUSB_0303	c.1822dup	p.lle608Asnfs*25	GUSB	Duplication	Frameshift	Likely Pathogenic	<5			Exon 12
GUSB_0304	c.1824C>G	p.Ile608Met	GUSB	SNV	Missense	Pathogenic	<5	Dysmorphic features, Growth abnormalities, Non-immune hydrops fetalis, Respiratory abnormalities, Skeletal/muscle abnormalities, Vision		Exon 12
GUSB_0305	c.1829C>T	p.Thr610Ile	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 12
GUSB_0306	c.1831C>T	p.Arg611Trp	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Hepatosplenomegaly, Non-immune hydrops fetalis, Normal characteristics, Skeletal/muscle abnormalities	8111413	Exon 12
GUSB_0307	c.1832G>A	p.Arg611Gln	GUSB	SNV	Missense	Likely Pathogenic	<5			Exon 12
GUSB_0308	c.1834del	p.Gln612Argfs*28	GUSB	Deletion	Frameshift	Uncertain Significance	<5			Exon 12
GUSB_0309	c.1856C>T	p.Ala619Val	GUSB	SNV	Missense	Pathogenic	5-10	Cardiac abnormalities, Developmental abnormalities, Dysmorphic features, Gait ab Show More >>	1702266, 30653816, 9543069	Exon 12
GUSB_0310	c.1874_1875del	p.Arg625Ilefs*7	GUSB	Deletion	Frameshift	Pathogenic	<5	Non-immune hydrops fetalis	8644704	Exon 12
GUSB_0311	c.1876T>C	p.Tyr626His	GUSB	SNV	Missense	Likely Pathogenic	<5	Skeletal/muscle abnormalities	9490302	Exon 12
GUSB_0312	c.1877A>G	p.Tyr626Cys	GUSB	SNV	Missense	Uncertain Significance	<5	Dysmorphic features, Gait abnormalities, Growth abnormalities, Skeletal/muscle abnormalities		Exon 12
GUSB_0313	c.1880G>A	p.Trp627*	GUSB	SNV	Nonsense	Uncertain Significance	<5			Exon 12
GUSB_0314	c.1881G>T	p.Trp627Cys	GUSB	SNV	Missense	Pathogenic	<5	Cardiac abnormalities, Developmental abnormalities, Hepatosplenomegaly, Non-immu Show More >>	7680524, 8644704	Exon 12
GUSB_0315	c.1883A>C	p.Lys628Thr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 12
GUSB_0316	c.1886T>C	p.Ile629Thr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 12
GUSB_0317	c.1887T>G	p.Ile629Met	GUSB	SNV	Missense	Uncertain Significance	<5	Growth abnormalities, Skeletal/muscle abnormalities		Exon 12
GUSB_0318	c.1901G>C	p.Arg634Thr	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 12
GUSB_0319	c.1912T>C	p.Ser638Pro	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 12
GUSB_0320	c.1927C>T	p.Gln643*	GUSB	SNV	Nonsense	Uncertain Significance	<5			Exon 12
GUSB_0321	c.1942A>C	p.Ser648Arg	GUSB	SNV	Missense	Uncertain Significance	<5			Exon 12
GUSB_0322	c.1946T>C	p.Leu649Pro	GUSB	SNV	Missense	UNKNOWN	<5	Growth abnormalities, Skeletal/muscle abnormalities	1702266	Exon 12
GUSB_0323	c.*12A>G	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			Exon 12
GUSB_0324	c.*94A>G	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			Exon 12
GUSB_0325	c.*148A>G	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			Exon 12
GUSB_0326	c.*154G>A	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			Exon 12
GUSB_0327	c.*208T>C	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			Exon 12
GUSB_0328	c.*208T>G	Non-coding	GUSB	SNV	UTR	Uncertain Significance	<5			Exon 12
GUSB_0329	c.?	p.?	GUSB			UNKNOWN	<5	Dysmorphic features, Growth abnormalities, Non-immune hydrops fetalis	28770119, 8111412

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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_000181.3 and NM_000181.4 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:

OMIM Entry # 611499: https://www.omim.org/entry/611499
NCBI gene #2990: https://www.ncbi.nlm.nih.gov/gene/2990
Miller et al. Cloning and characterization of the human beta-glucuronidase gene. Genomics. 1990 Jun;7(2):280-3
Tomatsu et al. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009 Apr;30(4)
Oshima at al. Cloning sequencing and expression of cDNA for human β-glucuronidase. Proc Natl Acad Sci U S A. 1987 Feb; 84(3): 685–689.
Naz et al. Human β-glucuronidase: structure, function, and application in enzyme replacement therapy. (Review article) Rejuvenation Res. 2013 Oct;16(5):352-63.
UniProt entry P08236: https://www.uniprot.org/uniprotkb/P08236/
Daugherty et al. Mucopolysaccharidosis Type VII (MPS VII): A novel, online GUSB gene variant database. Abstract and poster presentation, ASHG 2024.

Mucopolysaccharidosis VII

Introduction

Variant List

Gene Structure

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