Rare Disease Genes

GUSB

Mucopolysaccharidosis VII

Variant List

To see more information, click on the Variant in the table. For more information on table headers, HGVS nomenclature, and ACMG classification please use the following links here.

Variant ID	Variant	Amino Acid Change	Gene Symbol	Effect Type	Display ACMG Call

GUSB_0001	c.-20C>T	Non-coding	GUSB	UTR	Uncertain Significance
GUSB_0002	c.-19G>C	Non-coding	GUSB	UTR	Uncertain Significance
GUSB_0003	c.-10A>T	Non-coding	GUSB	UTR	Uncertain Significance
GUSB_0004	c.?	Deletion (entire coding sequence)	GUSB	CNV	Pathogenic
GUSB_0005	c.?	Deletion (Exon 1-8)	GUSB	CNV	Pathogenic
GUSB_0006	c.-131-?_*213+?dup	Gain (Entire coding sequence)	GUSB	CNV	Uncertain Significance
GUSB_0007	c.1A>C	p.Met1?	GUSB	start lost	Pathogenic
GUSB_0008	c.1A>G	p.Met1?	GUSB	start lost	Pathogenic
GUSB_0009	c.7C>T	p.Arg3Trp	GUSB	missense	Uncertain Significance
GUSB_0010	c.10G>A	p.Gly4Arg	GUSB	missense	Uncertain Significance
GUSB_0011	c.11G>A	p.Gly4Glu	GUSB	missense	Uncertain Significance
GUSB_0012	c.11G>C	p.Gly4Ala	GUSB	missense	Uncertain Significance
GUSB_0013	c.13T>C	p.Ser5Pro	GUSB	missense	Uncertain Significance
GUSB_0014	c.14C>T	p.Ser5Leu	GUSB	missense	Uncertain Significance
GUSB_0015	c.17C>A	p.Ala6Glu	GUSB	missense	Uncertain Significance
GUSB_0016	c.22G>T	p.Ala8Ser	GUSB	missense	Uncertain Significance
GUSB_0017	c.24del	p.Trp9Glyfs*97	GUSB	frameshift	Pathogenic
GUSB_0018	c.35T>C	p.Leu12Pro	GUSB	missense	Uncertain Significance
GUSB_0019	c.38G>A	p.Gly13Glu	GUSB	missense	Uncertain Significance
GUSB_0020	c.45G>A	p.Leu15=	GUSB	synonymous	Uncertain Significance
GUSB_0021	c.50G>C	p.Trp17Ser	GUSB	missense	Uncertain Significance
GUSB_0022	c.58_70del	p.Ala20Argfs*82	GUSB	frameshift	Likely Pathogenic
GUSB_0023	c.88C>T	p.Pro30Ser	GUSB	missense	Pathogenic
GUSB_0024	c.91C>A	p.Gln31Lys	GUSB	missense	Uncertain Significance
GUSB_0025	c.104C>A	p.Ser35*	GUSB	nonsense	Likely Pathogenic
GUSB_0026	c.107G>T	p.Arg36Leu	GUSB	missense	Likely Pathogenic
GUSB_0027	c.112T>C	p.Cys38Arg	GUSB	missense	Uncertain Significance
GUSB_0028	c.112T>G	p.Cys38Gly	GUSB	missense	Uncertain Significance
GUSB_0029	c.148G>T	p.Asp50Tyr	GUSB	missense	Pathogenic
GUSB_0030	c.151T>A	p.Phe51Ile	GUSB	missense	Uncertain Significance
GUSB_0031	c.155C>T	p.Ser52Phe	GUSB	missense	Pathogenic
GUSB_0032	c.157G>A	p.Asp53Asn	GUSB	missense	Uncertain Significance
GUSB_0033	c.161A>G	p.Asn54Ser	GUSB	missense	Pathogenic
GUSB_0034	c.163C>T	p.Arg55*	GUSB	nonsense	Pathogenic
GUSB_0035	c.169C>G	p.Arg57Gly	GUSB	missense	Uncertain Significance
GUSB_0036	c.170G>T	p.Arg57Leu	GUSB	missense	Uncertain Significance
GUSB_0037	c.185A>C	p.Gln62Pro	GUSB	missense	Uncertain Significance
GUSB_0038	c.185A>G	p.Gln62Arg	GUSB	missense	Uncertain Significance
GUSB_0039	c.?	p.Trp63*	GUSB	nonsense	Pathogenic
GUSB_0040	c.190T>C	p.Tyr64His	GUSB	missense	Uncertain Significance
GUSB_0041	c.196C>T	p.Arg66Trp	GUSB	missense	Uncertain Significance
GUSB_0042	c.200C>T	p.Pro67Leu	GUSB	missense	Uncertain Significance
GUSB_0043	c.210+11G>C	Intronic	GUSB	intronic	Uncertain Significance
GUSB_0044	c.210+1G>A	Intronic	GUSB	splicing	Pathogenic
GUSB_0045	c.210+5G>A	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0046	c.211_214delTCAG	p.Ser71Alafs*34	GUSB	frameshift	Pathogenic
GUSB_0047	c.211-8C>G	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0048	c.229A>G	p.Met77Val	GUSB	missense	Uncertain Significance
GUSB_0049	c.230T>G	p.Met77Arg	GUSB	missense	Uncertain Significance
GUSB_0050	c.238C>G	p.Pro80Ala	GUSB	missense	Uncertain Significance
GUSB_0051	c.245G>A	p.Ser82Asn	GUSB	missense	Uncertain Significance
GUSB_0052	c.251A>G	p.Asn84Ser	GUSB	missense	Uncertain Significance
GUSB_0053	c.266A>G	p.Asp89Gly	GUSB	missense	Uncertain Significance
GUSB_0054	c.269G>C	p.Trp90Ser	GUSB	missense	Uncertain Significance
GUSB_0055	c.290G>C	p.Gly97Ala	GUSB	missense	Pathogenic
GUSB_0056	c.295G>A	p.Val99Met	GUSB	missense	Uncertain Significance
GUSB_0057	c.307C>T	p.Arg103Trp	GUSB	missense	Likely Pathogenic
GUSB_0058	c.323C>T	p.Pro108Leu	GUSB	missense	Uncertain Significance
GUSB_0059	c.324G>A	p.Pro108=	GUSB	synonymous	Uncertain Significance
GUSB_0060	c.328C>T	p.Arg110*	GUSB	nonsense	Pathogenic
GUSB_0061	c.338A>G	p.Gln113Arg	GUSB	missense	Uncertain Significance
GUSB_0062	c.347G>A	p.Arg116His	GUSB	missense	Uncertain Significance
GUSB_0063	c.352A>G	p.Arg118Gly	GUSB	missense	Uncertain Significance
GUSB_0064	c.366G>C	p.Arg122Ser	GUSB	missense	Uncertain Significance
GUSB_0065	c.370G>C	p.Gly124Arg	GUSB	missense	Uncertain Significance
GUSB_0066	c.373A>C	p.Ser125Arg	GUSB	missense	Uncertain Significance
GUSB_0067	c.380A>G	p.His127Arg	GUSB	missense	Uncertain Significance
GUSB_0068	c.383C>T	p.Ser128Phe	GUSB	missense	Uncertain Significance
GUSB_0069	c.388G>A	p.Ala130Thr	GUSB	missense	Uncertain Significance
GUSB_0070	c.394G>A	p.Val132Met	GUSB	missense	Uncertain Significance
GUSB_0071	c.396+1G>A	Intronic	GUSB	splicing	Likely Pathogenic
GUSB_0072	c.398G>C	p.Trp133Ser	GUSB	missense	Likely Pathogenic
GUSB_0073	c.406G>A	p.Gly136Arg	GUSB	missense	Likely Pathogenic
GUSB_0074	c.409G>T	p.Val137Phe	GUSB	missense	Uncertain Significance
GUSB_0075	c.422_424delAGCinsCGT	p.Glu141_His142delinsAlaTyr	GUSB	missense	Unknown
GUSB_0076	c.422A>C	p.Glu141Ala	GUSB	missense	Pathogenic
GUSB_0077	c.424C>T	p.His142Tyr	GUSB	missense	Pathogenic
GUSB_0078	c.429G>T	p.Glu143Asp	GUSB	missense	Uncertain Significance
GUSB_0079	c.430G>T	p.Gly144Trp	GUSB	missense	Uncertain Significance
GUSB_0080	c.442C>T	p.Pro148Ser	GUSB	missense	Pathogenic
GUSB_0081	c.448G>A	p.Glu150Lys	GUSB	missense	Likely Pathogenic
GUSB_0082	c.450G>C	p.Glu150Asp	GUSB	missense	Uncertain Significance
GUSB_0083	c.454G>A	p.Asp152Asn	GUSB	missense	Uncertain Significance
GUSB_0084	c.455A>G	p.Asp152Gly	GUSB	missense	Uncertain Significance
GUSB_0085	c.464_475del	p.Asn155_Val159delinsMet	GUSB	deletion	Uncertain Significance
GUSB_0086	c.465C>G	p.Asn155Lys	GUSB	missense	Uncertain Significance
GUSB_0087	c.479_480delGG	p.Gly160Alafs*31	GUSB	frameshift	Likely Pathogenic
GUSB_0088	c.?	p.Leu162fs	GUSB	frameshift	Likely Pathogenic
GUSB_0089	c.493C>T	p.Arg165Trp	GUSB	missense	Uncertain Significance
GUSB_0090	c.499C>T	p.Arg167*	GUSB	nonsense	Pathogenic
GUSB_0091	c.518A>G	p.Asn173Ser	GUSB	missense	Uncertain Significance
GUSB_0092	c.526C>T	p.Leu176Phe	GUSB	missense	Pathogenic
GUSB_0093	c.530C>T	p.Thr177Ile	GUSB	missense	Pathogenic
GUSB_0094	c.531C>A	p.Thr177=	GUSB	synonymous	Uncertain Significance
GUSB_0095	c.532C>A	p.Pro178Thr	GUSB	missense	Uncertain Significance
GUSB_0096	c.532C>T	p.Pro178Ser	GUSB	missense	Uncertain Significance
GUSB_0097	c.536C>T	p.Thr179Ile	GUSB	missense	Uncertain Significance
GUSB_0098	c.553A>C	p.Thr185Pro	GUSB	missense	Uncertain Significance
GUSB_0099	c.560_581+13del	Splice site	GUSB	splicing	Likely Pathogenic
GUSB_0100	c.581+1G>A	Intronic	GUSB	splicing	Pathogenic
GUSB_0101	c.582-15G>A	Intronic	GUSB	intronic	Uncertain Significance
GUSB_0102	c.582-3T>G	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0103	c.583T>C	p.Tyr195His	GUSB	missense	Uncertain Significance
GUSB_0104	c.604C>T	p.Gln202*	GUSB	nonsense	Pathogenic
GUSB_0105	c.613T>C	p.Tyr205His	GUSB	missense	Uncertain Significance
GUSB_0106	c.614A>G	p.Tyr205Cys	GUSB	missense	Uncertain Significance
GUSB_0107	c.634G>A	p.Ala212Thr	GUSB	missense	Uncertain Significance
GUSB_0108	c.646C>T	p.Arg216Trp	GUSB	missense	Pathogenic
GUSB_0109	c.647G>A	p.Arg216Gln	GUSB	missense	Likely Pathogenic
GUSB_0110	c.658C>G	p.Leu220Val	GUSB	missense	Uncertain Significance
GUSB_0111	c.694A>G	p.Thr232Ala	GUSB	missense	Uncertain Significance
GUSB_0112	c.695C>G	p.Thr232Ser	GUSB	missense	Uncertain Significance
GUSB_0113	c.695C>T	p.Thr232Ile	GUSB	missense	Uncertain Significance
GUSB_0114	c.697G>A	p.Val233Ile	GUSB	missense	Uncertain Significance
GUSB_0115	c.724+1G>T	Intronic	GUSB	splicing	Likely Pathogenic
GUSB_0116	c.728T>C	p.Leu243Pro	GUSB	missense	Likely Pathogenic
GUSB_0117	c.728T>A	p.Leu243Gln	GUSB	missense	Likely Pathogenic
GUSB_0118	c.738C>G	p.Tyr246*	GUSB	nonsense	Pathogenic
GUSB_0119	c.739C>G	p.Gln247Glu	GUSB	missense	Uncertain Significance
GUSB_0120	c.741G>A	p.Gln247=	GUSB	synonymous	Uncertain Significance
GUSB_0121	c.760A>C	p.Asn254His	GUSB	missense	Uncertain Significance
GUSB_0122	c.764T>A	p.Leu255Gln	GUSB	missense	Uncertain Significance
GUSB_0123	c.766T>C	p.Phe256Leu	GUSB	missense	Uncertain Significance
GUSB_0124	c.781C>G	p.Arg261Gly	GUSB	missense	Uncertain Significance
GUSB_0125	c.805G>C	p.Val269Leu	GUSB	missense	Uncertain Significance
GUSB_0126	c.808G>A	p.Val270Met	GUSB	missense	Uncertain Significance
GUSB_0127	c.812C>A	p.Ala271Glu	GUSB	missense	Uncertain Significance
GUSB_0128	c.812C>T	p.Ala271Val	GUSB	missense	Uncertain Significance
GUSB_0129	c.820_821delAC	p.Thr274Trpfs*7	GUSB	frameshift	Pathogenic
GUSB_0130	c.863G>T	p.Trp288Leu	GUSB	missense	Uncertain Significance
GUSB_0131	c.866G>A	p.Trp289*	GUSB	nonsense	Pathogenic
GUSB_0132	c.867G>A	p.Trp289*	GUSB	nonsense	Pathogenic
GUSB_0133	c.871T>A	p.Tyr291Asn	GUSB	missense	Uncertain Significance
GUSB_0134	c.875T>C	p.Leu292Pro	GUSB	missense	Uncertain Significance
GUSB_0135	c.893C>T	p.Ala298Val	GUSB	missense	Likely Pathogenic
GUSB_0136	c.896A>G	p.Tyr299Cys	GUSB	missense	Uncertain Significance
GUSB_0137	c.898C>G	p.Leu300Val	GUSB	missense	Uncertain Significance
GUSB_0138	c.912+632G>T	Intronic	GUSB	intronic	Uncertain Significance
GUSB_0139	c.912+659C>G	Intronic	GUSB	intronic	Uncertain Significance
GUSB_0140	c.912+659G>C	Intronic	GUSB	intronic	Uncertain Significance
GUSB_0141	c.918G>T	p.Gln306His	GUSB	missense	Uncertain Significance
GUSB_0142	c.932dup	p.Ser312Valfs*7	GUSB	frameshift	Pathogenic
GUSB_0143	c.935C>A	p.Ser312*	GUSB	nonsense	Pathogenic
GUSB_0144	c.953A>G	p.Asp318Gly	GUSB	missense	Uncertain Significance
GUSB_0145	c.955T>C	p.Phe319Leu	GUSB	missense	Uncertain Significance
GUSB_0146	c.956T>C	p.Phe319Ser	GUSB	missense	Uncertain Significance
GUSB_0147	c.959A>C	p.Tyr320Ser	GUSB	missense	Likely Pathogenic
GUSB_0148	c.959A>G	p.Tyr320Cys	GUSB	missense	Likely Pathogenic
GUSB_0149	c.964C>T	p.Leu322Phe	GUSB	missense	Uncertain Significance
GUSB_0150	c.970G>A	p.Val324Met	GUSB	missense	Uncertain Significance
GUSB_0151	c.979C>T	p.Arg327Cys	GUSB	missense	Uncertain Significance
GUSB_0152	c.980G>T	p.Arg327Leu	GUSB	missense	Uncertain Significance
GUSB_0153	c.?	p.Arg327*	GUSB	nonsense	Likely Pathogenic
GUSB_0154	c.988G>T	p.Ala330Ser	GUSB	missense	Uncertain Significance
GUSB_0155	c.1016A>G	p.Asn339Ser	GUSB	missense	Uncertain Significance
GUSB_0156	c.1024C>T	p.Pro342Ser	GUSB	missense	Uncertain Significance
GUSB_0157	c.1050G>A	p.Lys350=	GUSB	synonymous	Uncertain Significance
GUSB_0158	c.1050G>C	p.Lys350Asn	GUSB	missense	Pathogenic
GUSB_0159	c.1051C>T	p.His351Tyr	GUSB	missense	Pathogenic
GUSB_0160	c.1061C>T	p.Ala354Val	GUSB	missense	Pathogenic
GUSB_0161	c.1065+1G>A	Intronic	GUSB	splicing	Pathogenic
GUSB_0162	c.1065+4T>C	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0163	c.1065C>T	p.Asp355=	GUSB	synonymous	Uncertain Significance
GUSB_0164	c.1066-5C>T	Intronic	GUSB	splicing	Conflict
GUSB_0165	c.1069C>T	p.Arg357*	GUSB	nonsense	Pathogenic
GUSB_0166	c.1084_1110del	p.Asp362_Phe370del	GUSB	deletion	Likely Pathogenic
GUSB_0167	c.1084G>A	p.Asp362Asn	GUSB	missense	Pathogenic
GUSB_0168	c.1084G>C	p.Asp362His	GUSB	missense	Likely Pathogenic
GUSB_0169	c.1091C>G	p.Pro364Arg	GUSB	missense	Uncertain Significance
GUSB_0170	c.1091C>T	p.Pro364Leu	GUSB	missense	Uncertain Significance
GUSB_0171	c.1120C>T	p.Arg374Cys	GUSB	missense	Pathogenic
GUSB_0172	c.1121G>A	p.Arg374His	GUSB	missense	Uncertain Significance
GUSB_0173	c.1121G>T	p.Arg374Leu	GUSB	missense	Likely Pathogenic
GUSB_0174	c.1135A>G	p.Asn379Asp	GUSB	missense	Uncertain Significance
GUSB_0175	c.1135A>T	p.Asn379Tyr	GUSB	missense	Uncertain Significance
GUSB_0176	c.1136A>G	p.Asn379Ser	GUSB	missense	Pathogenic
GUSB_0177	c.1138G>A	p.Ala380Thr	GUSB	missense	Uncertain Significance
GUSB_0178	c.1144C>T	p.Arg382Cys	GUSB	missense	Likely Pathogenic
GUSB_0179	c.1145G>A	p.Arg382His	GUSB	missense	Likely Pathogenic
GUSB_0180	c.1151G>A	p.Ser384Asn	GUSB	missense	Uncertain Significance
GUSB_0181	c.1161C>G	p.Pro387=	GUSB	synonymous	Uncertain Significance
GUSB_0182	c.1169A>G	p.Glu390Gly	GUSB	missense	Uncertain Significance
GUSB_0183	c.1192C>T	p.Arg398Cys	GUSB	missense	Uncertain Significance
GUSB_0184	c.1193G>A	p.Arg398His	GUSB	missense	Uncertain Significance
GUSB_0185	c.1213G>A	p.Asp405Asn	GUSB	missense	Uncertain Significance
GUSB_0186	c.1216G>C	p.Glu406Gln	GUSB	missense	Uncertain Significance
GUSB_0187	c.1219_1220insC	p.Cys407Serfs*30	GUSB	insertion	Pathogenic
GUSB_0188	c.1222C>T	p.Pro408Ser	GUSB	missense	Pathogenic
GUSB_0189	c.1232G>A	p.Gly411Asp	GUSB	missense	Uncertain Significance
GUSB_0190	c.1238C>T	p.Ala413Val	GUSB	missense	Uncertain Significance
GUSB_0191	c.1240C>T	p.Leu414=	GUSB	synonymous	Uncertain Significance
GUSB_0192	c.1244+1G>A	Intronic	GUSB	splicing	Pathogenic
GUSB_0193	c.1244C>T	p.Pro415Leu	GUSB	missense	Pathogenic
GUSB_0194	c.1245-4G>A	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0195	c.1245-4G>T	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0196	c.1253T>G	p.Phe418Cys	GUSB	missense	Uncertain Significance
GUSB_0197	c.1270C>A	p.His424Asn	GUSB	missense	Uncertain Significance
GUSB_0198	c.1270C>T	p.His424Tyr	GUSB	missense	Uncertain Significance
GUSB_0199	c.1273C>A	p.His425Asn	GUSB	missense	Uncertain Significance
GUSB_0200	c.1285G>A	p.Val429Met	GUSB	missense	Uncertain Significance
GUSB_0201	c.1285G>T	p.Val429Leu	GUSB	missense	Uncertain Significance
GUSB_0202	c.1288A>C	p.Met430Leu	GUSB	missense	Uncertain Significance
GUSB_0203	c.1289T>C	p.Met430Thr	GUSB	missense	Pathogenic
GUSB_0204	c.1291G>A	p.Glu431Lys	GUSB	missense	Uncertain Significance
GUSB_0205	c.1303C>T	p.Arg435Cys	GUSB	missense	Uncertain Significance
GUSB_0206	c.1304G>C	p.Arg435Pro	GUSB	missense	Likely Pathogenic
GUSB_0207	c.1304G>A	p.Arg435His	GUSB	missense	Uncertain Significance
GUSB_0208	c.1324_1325delinsTG	p.Ala442Trp	GUSB	missense	Uncertain Significance
GUSB_0209	c.1324G>A	p.Ala442Thr	GUSB	missense	Uncertain Significance
GUSB_0210	c.1325C>T	p.Ala442Val	GUSB	missense	Uncertain Significance
GUSB_0211	c.1330G>A	p.Val444Met	GUSB	missense	Uncertain Significance
GUSB_0212	c.1337G>A	p.Trp446*	GUSB	nonsense	Pathogenic
GUSB_0213	c.1338G>A	p.Trp446*	GUSB	nonsense	Pathogenic
GUSB_0214	c.1338G>T	p.Trp446Cys	GUSB	missense	Uncertain Significance
GUSB_0215	c.?	p.Ser447Glu	GUSB	missense	Uncertain Significance
GUSB_0216	c.1349A>G	p.Asn450Ser	GUSB	missense	Uncertain Significance
GUSB_0217	c.1358C>T	p.Ala453Val	GUSB	missense	Uncertain Significance
GUSB_0218	c.1382A>T	p.Tyr461Phe	GUSB	missense	Uncertain Significance
GUSB_0219	c.1387T>G	p.Leu463Val	GUSB	missense	Uncertain Significance
GUSB_0220	c.1391+618_1391+619del	Intronic	GUSB	deletion	Pathogenic
GUSB_0221	c.1391+5G>A	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0222	c.1392-181_1476+174del440	p.Met465Leufs*6	GUSB	frameshift	Unknown
GUSB_0223	c.1412A>C	p.Lys471Thr	GUSB	missense	Uncertain Significance
GUSB_0224	c.1415C>A	p.Ser472Tyr	GUSB	missense	Uncertain Significance
GUSB_0225	c.?	Deletion (Exon 9)	GUSB	CNV	Pathogenic
GUSB_0226	c.?	Deletion (Exon 9)	GUSB	CNV	Pathogenic
GUSB_0227	c.?	Deletion (Exon 9)	GUSB	CNV	Pathogenic
GUSB_0228	c.1423C>A	p.Pro475Thr	GUSB	missense	Uncertain Significance
GUSB_0229	c.1429C>T	p.Arg477Trp	GUSB	missense	Pathogenic
GUSB_0230	c.1430G>A	p.Arg477Gln	GUSB	missense	Uncertain Significance
GUSB_0231	c.1430G>C	p.Arg477Pro	GUSB	missense	Likely Pathogenic
GUSB_0232	c.1454_1455del	p.Ser485*	GUSB	frameshift	Pathogenic
GUSB_0233	c.1454C>T	p.Ser485Phe	GUSB	missense	Uncertain Significance
GUSB_0234	c.1457_1460delACTA	p.Asn486Metfs*12	GUSB	frameshift	Pathogenic
GUSB_0235	c.1461T>C	p.Tyr487=	GUSB	synonymous	Uncertain Significance
GUSB_0236	c.1468G>A	p.Asp490Asn	GUSB	missense	Uncertain Significance
GUSB_0237	c.1469A>G	p.Asp490Gly	GUSB	missense	Likely Pathogenic
GUSB_0238	c.1476+3G>A	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0239	c.1476_1476+13del	Intronic	GUSB	splicing	Likely Pathogenic
GUSB_0240	c.1477-70C>T	Intronic	GUSB	intronic	Unknown
GUSB_0241	c.1484A>G	p.Tyr495Cys	GUSB	missense	Uncertain Significance
GUSB_0242	c.1486G>T	p.Val496Leu	GUSB	missense	Uncertain Significance
GUSB_0243	c.?	p.Asp497Glu	GUSB	missense	Uncertain Significance
GUSB_0244	c.1499G>T	p.Cys500Phe	GUSB	missense	Uncertain Significance
GUSB_0245	c.1506C>A	p.Asn502Lys	GUSB	missense	Uncertain Significance
GUSB_0246	c.?	p.Ser503Arg	GUSB	missense	Uncertain Significance
GUSB_0247	c.?	p.Ser506Gly	GUSB	missense	Uncertain Significance
GUSB_0248	c.1520G>A	p.Trp507*	GUSB	nonsense	Pathogenic
GUSB_0249	c.1521G>A	p.Trp507*	GUSB	nonsense	Pathogenic
GUSB_0250	c.1523A>G	p.Tyr508Cys	GUSB	missense	Likely Pathogenic
GUSB_0251	c.1524T>C	p.Tyr508=	GUSB	synonymous	Uncertain Significance
GUSB_0252	c.1526A>C	p.His509Pro	GUSB	missense	Uncertain Significance
GUSB_0253	c.1527C>A	p.His509Gln	GUSB	missense	Uncertain Significance
GUSB_0254	c.1534G>A	p.Gly512Arg	GUSB	missense	Pathogenic
GUSB_0255	c.1537C>G	p.His513Asp	GUSB	missense	Uncertain Significance
GUSB_0256	c.1561C>G	p.Leu521Val	GUSB	missense	Uncertain Significance
GUSB_0257	c.1574T>C	p.Phe525Ser	GUSB	missense	Uncertain Significance
GUSB_0258	c.1583G>A	p.Trp528*	GUSB	nonsense	Pathogenic
GUSB_0259	c.1586A>G	p.Tyr529Cys	GUSB	missense	Likely Pathogenic
GUSB_0260	c.1610T>C	p.Ile537Thr	GUSB	missense	Uncertain Significance
GUSB_0261	c.1613A>T	p.Gln538Leu	GUSB	missense	Uncertain Significance
GUSB_0262	c.1614G>C	p.Gln538His	GUSB	missense	Uncertain Significance
GUSB_0263	c.1616G>C	p.Ser539Thr	GUSB	missense	Uncertain Significance
GUSB_0264	c.1617C>T	p.Ser539=	GUSB	synonymous	Pathogenic
GUSB_0265	c.1618G>A	p.Glu540Lys	GUSB	missense	Likely Pathogenic
GUSB_0266	c.1618G>T	p.Glu540*	GUSB	nonsense	Pathogenic
GUSB_0267	c.1651C>T	p.Gln551*	GUSB	nonsense	Pathogenic
GUSB_0268	c.1653+151A>G	Intronic	GUSB	intronic	Unknown
GUSB_0269	c.1654-3T>C	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0270	c.1654-7A>G	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0271	c.1693C>G	p.Leu565Val	GUSB	missense	Uncertain Significance
GUSB_0272	c.?	p.Leu565Ala	GUSB	missense	Uncertain Significance
GUSB_0273	c.1703A>G	p.Gln568Arg	GUSB	missense	Uncertain Significance
GUSB_0274	c.1715G>A	p.Gly572Asp	GUSB	missense	Likely Pathogenic
GUSB_0275	c.1730G>T	p.Arg577Leu	GUSB	missense	Pathogenic
GUSB_0276	c.1741G>A	p.Val581Met	GUSB	missense	Uncertain Significance
GUSB_0277	c.1742T>C	p.Val581Ala	GUSB	missense	Uncertain Significance
GUSB_0278	c.1747G>A	p.Gly583Arg	GUSB	missense	Likely Pathogenic
GUSB_0279	c.1760G>C	p.Trp587Ser	GUSB	missense	Uncertain Significance
GUSB_0280	c.1775delT	p.Phe592Serfs*2	GUSB	frameshift	Pathogenic
GUSB_0281	c.1775T>A	p.Phe592Tyr	GUSB	missense	Uncertain Significance
GUSB_0282	c.?	p.Thr594Leu	GUSB	missense	Uncertain Significance
GUSB_0283	c.1783del	p.Glu595Asnfs*45	GUSB	frameshift	Likely Pathogenic
GUSB_0284	c.1786del	p.Gln596Serfs*44	GUSB	frameshift	Uncertain Significance
GUSB_0285	c.1790-2dup	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0286	c.1790-5dup	Intronic	GUSB	splicing	Uncertain Significance
GUSB_0287	c.1792C>G	p.Pro598Ala	GUSB	missense	Uncertain Significance
GUSB_0288	c.1796C>T	p.Thr599Met	GUSB	missense	Uncertain Significance
GUSB_0289	c.1811A>G	p.Asn604Ser	GUSB	missense	Uncertain Significance
GUSB_0290	c.1816A>G	p.Lys606Glu	GUSB	missense	Uncertain Significance
GUSB_0291	c.?	p.Lys606Phe	GUSB	missense	Uncertain Significance
GUSB_0292	c.1818G>C	p.Lys606Asn	GUSB	missense	Likely Pathogenic
GUSB_0293	c.1820G>C	p.Gly607Ala	GUSB	missense	Likely Pathogenic
GUSB_0294	c.1822dup	p.lle608Asnfs*25	GUSB	frameshift	Likely Pathogenic
GUSB_0295	c.1824C>G	p.Ile608Met	GUSB	missense	Pathogenic
GUSB_0296	c.1829C>T	p.Thr610Ile	GUSB	missense	Uncertain Significance
GUSB_0297	c.1831C>T	p.Arg611Trp	GUSB	missense	Uncertain Significance
GUSB_0298	c.1832G>A	p.Arg611Gln	GUSB	missense	Likely Pathogenic
GUSB_0299	c.1834del	p.Gln612Argfs*28	GUSB	frameshift	Uncertain Significance
GUSB_0300	c.1856C>T	p.Ala619Val	GUSB	missense	Pathogenic
GUSB_0301	c.1874_1875del	p.Arg625Ilefs*7	GUSB	frameshift	Pathogenic
GUSB_0302	c.1876T>C	p.Tyr626His	GUSB	missense	Likely Pathogenic
GUSB_0303	c.1877A>G	p.Tyr626Cys	GUSB	missense	Uncertain Significance
GUSB_0304	c.1880G>A	p.Trp627*	GUSB	nonsense	Uncertain Significance
GUSB_0305	c.1881G>T	p.Trp627Cys	GUSB	missense	Pathogenic
GUSB_0306	c.1883A>C	p.Lys628Thr	GUSB	missense	Uncertain Significance
GUSB_0307	c.1886T>C	p.Ile629Thr	GUSB	missense	Uncertain Significance
GUSB_0308	c.1887T>G	p.Ile629Met	GUSB	missense	Uncertain Significance
GUSB_0309	c.1901G>C	p.Arg634Thr	GUSB	missense	Uncertain Significance
GUSB_0310	c.1912T>C	p.Ser638Pro	GUSB	missense	Uncertain Significance
GUSB_0311	c.1927C>T	p.Gln643*	GUSB	nonsense	Uncertain Significance
GUSB_0312	c.1942A>C	p.Ser648Arg	GUSB	missense	Uncertain Significance
GUSB_0313	c.*12A>G	Non-coding	GUSB	UTR	Uncertain Significance
GUSB_0314	c.*148A>G	Non-coding	GUSB	UTR	Uncertain Significance
GUSB_0315	c.*154G>A	Non-coding	GUSB	UTR	Uncertain Significance
GUSB_0316	c.*208T>C	Non-coding	GUSB	UTR	Uncertain Significance
GUSB_0317	c.*208T>G	Non-coding	GUSB	UTR	Uncertain Significance
GUSB_0318	c.*94A>G	Non-coding	GUSB	UTR	Uncertain Significance

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.

Definition of acronyms:

"*": Referenced a stop codon insertion when listed under amino acid change.
ACMG: American College of Medical Genetics and Genomics
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

Variant List

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