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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Mucopolysaccharidoses (D009083)
..Starting node ..Mucopolysaccharidosis VII (D016538)
Child Nodes:
Sister Nodes:
..Hyaluronidase Deficiency (C563209)
..Mucopolysaccharidoses, Unclassified Types (C562442)
..Mucopolysaccharidosis I (D008059)
..Mucopolysaccharidosis II (D016532)
..Mucopolysaccharidosis III (D009084)
..Mucopolysaccharidosis IV (D009085) 1
..Mucopolysaccharidosis Type VIII (C563094)
..Mucopolysaccharidosis VI (D009087)
..Mucopolysaccharidosis VII (D016538)
..MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8228

Name:

Mucopolysaccharidosis VII

Definition:

Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

Alternative IDs:

DO:DOID:12803|OMIM:253220

ParentIDs:

MESH:D009083

TreeNumbers:

C16.320.565.202.715.675 |C16.320.565.595.600.675 |C17.300.550.575.675 |C18.452.648.202.715.675 |C18.452.648.595.600.675

Synonyms:

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D016538
MeSH: D016538
OMIM: 253220;
MSeqDR :
Genes: GUSB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001654	Abnormal heart valve morphology
3	HP:0008807	Acetabular dysplasia
4	HP:0004607	Anterior beaking of lower thoracic vertebrae
5	HP:0008430	Anterior beaking of lumbar vertebrae
6	HP:0000280	Coarse facial features
7	HP:0007957	Corneal opacity
8	HP:0008301	Dermatan sulfate excretion in urine
9	HP:0000943	Dysostosis multiplex
10	HP:0001371	Flexion contracture
11	HP:0000365	Hearing impairment
12	HP:0002240	Hepatomegaly
13	HP:0001007	Hirsutism
14	HP:0000238	Hydrocephalus
15	HP:0001789	Hydrops fetalis
16	HP:0003311	Hypoplasia of the odontoid process
17	HP:0000023	Inguinal hernia
18	HP:0001249	Intellectual disability
19	HP:0002680	J-shaped sella turcica
20	HP:0000256	Macrocephaly
21	HP:0001840	Metatarsus adductus
22	HP:0003375	Narrow greater sacrosciatic notches
23	HP:0002180	Neurodegeneration
24	HP:0000768	Pectus carinatum
25	HP:0000926	Platyspondyly
26	HP:0008897	Postnatal growth retardation
27	HP:0006119	Proximal tapering of metacarpals
28	HP:0000470	Short neck
29	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
30	HP:0001744	Splenomegaly
31	HP:0005619	Thoracolumbar kyphosis
32	HP:0001537	Umbilical hernia
33	HP:0003541	Urinary glycosaminoglycan excretion

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000007.14:g.(?_65960877)_(66092932_?)del	-1	ASL;GUSB	Pathogenic	-1	RCV001033496\|RCV001382802;	N	Human Phenotype Ontology:HP:0025630,MONDO:MONDO:0008815,MedGen:C0268547,OMIM:207900, Orphanet:23\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425864	65557919	-1	-
NM_000181.4(GUSB):c.*208T>C	2990	GUSB	Uncertain significance	190201470	RCV000315120;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425676	65425676	NC_000007.13:g.65425676A>G	ClinGen:CA10624158	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.*208T>G	2990	GUSB	Uncertain significance	190201470	RCV001160748;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425676	65425676	7:g.65425676A>C	-
NM_000181.4(GUSB):c.*172A>G	2990	GUSB	Benign	77293332	RCV001162368;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425712	65425712	7:g.65425712T>C	-
NM_000181.4(GUSB):c.*154G>A	2990	GUSB	Uncertain significance	1790427973	RCV001162369;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425730	65425730	7:g.65425730C>T	-
NM_000181.4(GUSB):c.*148A>G	2990	GUSB	Uncertain significance	568655640	RCV001162370;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425736	65425736	7:g.65425736T>C	-
NM_000181.4(GUSB):c.*94A>G	2990	GUSB	Uncertain significance	536903750	RCV001162371;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425790	65425790	7:g.65425790T>C	-
NM_000181.4(GUSB):c.*55C>T	2990	GUSB	Benign	372605666	RCV000334892;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425829	65425829	NC_000007.13:g.65425829G>A	ClinGen:CA10626283	C0085132 253220 Mucopolysaccharidosis type VII;
NC_000007.14:g.(?_65960877)_(65982203_?)dup	2990	GUSB	Uncertain significance	-1	RCV001031371;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425864	65447190	-1	-
NM_000181.4(GUSB):c.*12A>G	2990	GUSB	Uncertain significance	769514976	RCV001162372;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425872	65425872	7:g.65425872T>C	-
NC_000007.13:g.(?_65425884)_(65447170_?)dup	2990	GUSB	Uncertain significance	-1	RCV001373888;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425884	65447170	-1	-
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)	2990	GUSB	Benign	9530	RCV000078327\|RCV000394365\|RCV000675829;	N	MedGen:CN169374\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900	7	65425894	65425894	7:g.65425894A>G	ClinGen:CA145853,UniProtKB:P08236#VAR_016179	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1945C>T (p.Leu649=)	2990	GUSB	Likely benign	-1	RCV002971983;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425895	65425895		-
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg)	2990	GUSB	Uncertain significance	776024156	RCV000817695;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425898	65425898	7:g.65425898T>G	-
NM_000181.4(GUSB):c.1929A>G (p.Gln643=)	2990	GUSB	Likely benign	764493374	RCV001391965;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425911	65425911	65425911	-
NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter)	2990	GUSB	Uncertain significance	-1	RCV002726022;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425913	65425913	NC_000007.13:g.65425913G>A	-
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)	2990	GUSB	Likely benign	770237165	RCV000722000;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425921	65425922	NC_000007.13:g.65425924_65425926dup	-
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)	2990	GUSB	Uncertain significance	1790444883	RCV001164418;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425928	65425928	7:g.65425928A>G	-
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=)	2990	GUSB	Likely benign	-1	RCV003031304;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425935	65425935		-
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)	2990	GUSB	Uncertain significance	756035101	RCV001359710;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425953	65425953	65425953	-
NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr)	2990	GUSB	Uncertain significance	-1	RCV003085155;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425954	65425954	NC_000007.13:g.65425954A>G	-
NM_000181.4(GUSB):c.1883A>C (p.Lys628Thr)	2990	GUSB	Uncertain significance	-1	RCV003135499;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425957	65425957	NC_000007.13:g.65425957T>G	-
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)	2990	GUSB	Likely pathogenic	121918184	RCV000000955\|RCV003328549\|RCV003398406;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900\|	7	65425959	65425959	7:g.65425959C>A	ClinGen:CA339854,UniProtKB:P08236#VAR_003201,OMIM:611499.0015	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)	2990	GUSB	Pathogenic	1236992554	RCV001205414;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425960	65425960	7:g.65425960C>T	-
NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys)	2990	GUSB	Uncertain significance	-1	RCV003031632;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425963	65425963	NC_000007.13:g.65425963T>C	-
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs)	2990	GUSB	Pathogenic	935464108	RCV000781445;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425965	65425966	7:g.65425965_65425966del	-
NM_000181.4(GUSB):c.1857G>A (p.Ala619=)	2990	GUSB	Likely benign	779147312	RCV001463949;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425983	65425983	65425983	-
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)	2990	GUSB	Pathogenic	121918172	RCV000000941;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65425984	65425984	7:g.65425984G>A	UniProtKB:P08236#VAR_003200,OMIM:611499.0001,ClinGen:CA339838	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1834del (p.Gln612fs)	2990	GUSB	Uncertain significance	1085307069	RCV000490365;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426006	65426006	7:g.65426006_65426006del	ClinGen:CA645294043	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln)	2990	GUSB	Likely pathogenic	1583879945	RCV001824225;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426008	65426008	65426008	-
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)	2990	GUSB	Uncertain significance	121918176	RCV000000945;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426009	65426009	7:g.65426009G>A	ClinGen:CA339841,UniProtKB:P08236#VAR_003199,OMIM:611499.0005	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile)	2990	GUSB	Uncertain significance	-1	RCV002971617;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426011	65426011	NC_000007.13:g.65426011G>A	-
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)	2990	GUSB	Uncertain significance	-1	RCV003060116;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426020	65426020	NC_000007.13:g.65426020C>G	-
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)	2990	GUSB	Uncertain significance	1325465494	RCV001312324\|RCV002543594;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65426024	65426024	65426024	-
NM_000181.4(GUSB):c.1797G>A (p.Thr599=)	2990	GUSB	Likely benign	-1	RCV002735849;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426043	65426043		-
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)	2990	GUSB	Uncertain significance	765983374	RCV001984237\|RCV003264376;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65426044	65426044	65426044	-
NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala)	2990	GUSB	Uncertain significance	-1	RCV002629959;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426048	65426048	NC_000007.13:g.65426048G>C	-
NM_000181.4(GUSB):c.1791A>G (p.Ser597=)	2990	GUSB	Likely benign	767115386	RCV002123646;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426049	65426049	65426049	-
NM_000181.4(GUSB):c.1790-2dup	2990	GUSB	Uncertain significance	764071830	RCV001312376\|RCV002469373;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:CN169374	7	65426051	65426052	65426051	-
NM_000181.4(GUSB):c.1790-18dup	2990	GUSB	Uncertain significance	750022485	RCV000299982\|RCV001573814\|RCV001529104;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:CN517202\|MedGen:CN169374	7	65426054	65426055	7:g.65426054_65426055insA	ClinGen:CA4276168	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1790-4G>T	2990	GUSB	Likely benign	879010457	RCV001430924;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426054	65426054	7:g.65426054C>A	ClinGen:CA4276169	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1790-5del	2990	GUSB	Benign	750022485	RCV000873537\|RCV001727815\|RCV001573011;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:CN169374\|MedGen:CN517202	7	65426055	65426055	7:g.65426055_65426055del	-
NM_000181.4(GUSB):c.1790-11T>C	2990	GUSB	Likely benign	-1	RCV003052157;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65426061	65426061	NC_000007.13:g.65426061A>G	-
NM_000181.4(GUSB):c.1789+9C>T	2990	GUSB	Likely benign	545446158	RCV001399702;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429301	65429301	7:g.65429301G>A	-
NM_000181.4(GUSB):c.1783del (p.Glu595fs)	2990	GUSB	Likely pathogenic	-1	RCV003145936;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429316	65429316	NC_000007.13:g.65429316del	-
NM_000181.4(GUSB):c.1770C>T (p.Ala590=)	2990	GUSB	Likely benign	-1	RCV002629271;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429329	65429329		-
NM_000181.4(GUSB):c.1752G>A (p.Glu584=)	2990	GUSB	Benign	141430018	RCV000633323;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429347	65429347	NC_000007.13:g.65429347C>T	ClinGen:CA4276194	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg)	2990	GUSB	Uncertain significance	757015172	RCV002226628;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429352	65429352	65429352	-
NM_000181.4(GUSB):c.1742T>C (p.Val581Ala)	2990	GUSB	Uncertain significance	-1	RCV003131093;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429357	65429357	NC_000007.13:g.65429357A>G	-
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)	2990	GUSB	Uncertain significance	150304382	RCV001317651;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429358	65429358	65429358	-
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)	2990	GUSB	Benign	1061361	RCV000078326\|RCV000357138\|RCV000675830;	N	MedGen:CN169374\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900	7	65429359	65429359	7:g.65429359G>A	ClinGen:CA145851	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu)	2990	GUSB	Pathogenic	121918183	RCV000000950;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429369	65429369	7:g.65429369C>A	ClinGen:CA339849,UniProtKB:P08236#VAR_037934,OMIM:611499.0014	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)	2990	GUSB	Uncertain significance	-1	RCV002570928;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429370	65429370	NC_000007.13:g.65429370G>A	-
NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg)	2990	GUSB	Uncertain significance	-1	RCV003009495;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429396	65429396	NC_000007.13:g.65429396T>C	-
NM_000181.4(GUSB):c.1654-3T>C	2990	GUSB	Uncertain significance	-1	RCV002638652;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429448	65429448	NC_000007.13:g.65429448A>G	-
NM_000181.4(GUSB):c.1654-4C>T	2990	GUSB	Likely benign	563449417	RCV002003688;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429449	65429449	65429449	-
NM_000181.4(GUSB):c.1654-7A>G	2990	GUSB	Uncertain significance	-1	RCV002671812;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429452	65429452	NC_000007.13:g.65429452T>C	-
NM_000181.4(GUSB):c.1654-9G>A	2990	GUSB	Likely benign	-1	RCV002928754;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429454	65429454	NC_000007.13:g.65429454C>T	-
NM_000181.4(GUSB):c.1654-14G>T	2990	GUSB	Likely benign	-1	RCV002638218;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65429459	65429459	NC_000007.13:g.65429459C>A	-
NM_000181.4(GUSB):c.1653+151A>G	2990	GUSB	Benign	1880555	RCV000675831\|RCV001082998;	N	MedGen:C3661900\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432567	65432567	7:g.65432567T>C	ClinGen:CA12509667	C0085132 253220 Mucopolysaccharidosis type VII;
NC_000007.14:g.(?_65967711)_(65970386_?)del	2990	GUSB	Pathogenic	-1	RCV001033213;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432698	65435373	-1	-
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter)	2990	GUSB	Pathogenic	1344332366	RCV001644997;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432720	65432720	65432720	-
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)	2990	GUSB	Pathogenic/Likely pathogenic	377519272	RCV000000949;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432754	65432754	7:g.65432754G>A	ClinGen:CA339847,dbVar:nssv3761630,OMIM:611499.0009	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1614G>C (p.Gln538His)	2990	GUSB	Uncertain significance	-1	RCV003131094;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432757	65432757	NC_000007.13:g.65432757C>G	-
NM_000181.4(GUSB):c.1581C>T (p.Asn527=)	2990	GUSB	Likely benign	-1	RCV002628169;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432790	65432790		-
NM_000181.4(GUSB):c.1574T>C (p.Phe525Ser)	2990	GUSB	Uncertain significance	-1	RCV002471890;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432797	65432797	NC_000007.13:g.65432797A>G	-
NM_000181.4(GUSB):c.1536G>A (p.Gly512=)	2990	GUSB	Likely benign	1282778009	RCV002165615;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432835	65432835	65432835	-
NM_000181.4(GUSB):c.1533C>T (p.Tyr511=)	2990	GUSB	Likely benign	-1	RCV002918088;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432838	65432838		-
NM_000181.4(GUSB):c.1527C>T (p.His509=)	2990	GUSB	Likely benign	201928248	RCV002132668;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432844	65432844	65432844	-
NM_000181.4(GUSB):c.1527C>A (p.His509Gln)	2990	GUSB	Uncertain significance	-1	RCV002966801\|RCV002966800\|RCV003108137;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900	7	65432844	65432844	NC_000007.13:g.65432844G>T	-
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)	2990	GUSB	Pathogenic	121918179	RCV000000948;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432850	65432850	7:g.65432850C>T	ClinGen:CA339844,OMIM:611499.0008	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1509C>T (p.Ser503=)	2990	GUSB	Likely benign	-1	RCV003064056;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432862	65432862		-
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys)	2990	GUSB	Uncertain significance	1159683641	RCV000987891;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432865	65432865	7:g.65432865G>T	-
NM_000181.4(GUSB):c.1485T>C (p.Tyr495=)	2990	GUSB	Likely benign	1333588701	RCV001908720;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432886	65432886	65432886	-
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)	2990	GUSB	Uncertain significance	121918178	RCV000000947;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432887	65432887	7:g.65432887T>C	ClinGen:CA339843,UniProtKB:P08236#VAR_037931,OMIM:611499.0007	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1482G>A (p.Pro494=)	2990	GUSB	Benign/Likely benign	548880426	RCV000878954;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65432889	65432889	7:g.65432889C>T	-
NC_000007.14:g.(?_65970262)_(65970386_?)del	2990	GUSB	Pathogenic	-1	RCV001033214;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435249	65435373	-1	-
NM_000181.4(GUSB):c.1476+13del	2990	GUSB	Benign	2115900599	RCV002096223;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435256	65435256	65435255	-
NM_000181.4(GUSB):c.1476+13G>T	2990	GUSB	Likely benign	-1	RCV002957342;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435256	65435256	NC_000007.13:g.65435256C>A	-
NM_000181.4(GUSB):c.1476_1476+13del	2990	GUSB	Likely pathogenic	-1	RCV003145946;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435256	65435269	NC_000007.13:g.65435259_65435272del	-
NM_000181.4(GUSB):c.1476+3G>A	2990	GUSB	Uncertain significance	886042522	RCV000675832\|RCV001855110;	N	MedGen:CN517202\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435266	65435266	7:g.65435266C>T	ClinGen:CA10604346	CN517202 not provided;
NM_000181.4(GUSB):c.1470C>T (p.Asp490=)	2990	GUSB	Likely benign	143084006	RCV002200038;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435275	65435275	65435275	-
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly)	2990	GUSB	Likely pathogenic	2115900875	RCV002254378;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435276	65435276	65435276	-
NM_000181.4(GUSB):c.1468G>A (p.Asp490Asn)	2990	GUSB	Uncertain significance	-1	RCV003135502;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435277	65435277	NC_000007.13:g.65435277C>T	-
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)	2990	GUSB	Conflicting interpretations of pathogenicity	200831987	RCV001164419;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435284	65435284	7:g.65435284A>G	-
NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln)	2990	GUSB	Uncertain significance	-1	RCV002647661;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435315	65435315	NC_000007.13:g.65435315C>T	-
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)	2990	GUSB	Conflicting interpretations of pathogenicity	774393243	RCV000735425;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435316	65435316	NC_000007.13:g.65435316G>A	-
NM_000181.4(GUSB):c.1425C>T (p.Pro475=)	2990	GUSB	Likely benign	1791109537	RCV002210532;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435320	65435320	65435320	-
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr)	2990	GUSB	Uncertain significance	-1	RCV002512475;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435322	65435322	NC_000007.13:g.65435322G>T	-
NM_000181.4(GUSB):c.1415C>A (p.Ser472Tyr)	2990	GUSB	Uncertain significance	-1	RCV003142568;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435330	65435330	NC_000007.13:g.65435330G>T	-
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)	2990	GUSB	Uncertain significance	1302470051	RCV000688513\|RCV003424279;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|	7	65435333	65435333	7:g.65435333T>G	-	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr)	2990	GUSB	Likely benign	752854143	RCV001440769;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435343	65435343	7:g.65435343C>T	-
NM_000181.4(GUSB):c.1401C>A (p.Ile467=)	2990	GUSB	Likely benign	-1	RCV002638836;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435344	65435344		-
NM_000181.4(GUSB):c.1401C>T (p.Ile467=)	2990	GUSB	Likely benign	-1	RCV003038303;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65435344	65435344		-
NM_000181.4(GUSB):c.1391+618_1391+619del	2990	GUSB	Pathogenic	786200863	RCV000000951;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65438663	65438664	7:g.65438663_65438664del	ClinGen:CA339850,OMIM:611499.0010	C0085132 253220 Mucopolysaccharidosis type VII;
NC_000007.14:g.(?_65974275)_(65982203_?)del	2990	GUSB	Pathogenic	-1	RCV000708128;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439262	65447190		-	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1391+5G>A	2990	GUSB	Uncertain significance	-1	RCV002912953;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439277	65439277	NC_000007.13:g.65439277C>T	-
NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe)	2990	GUSB	Uncertain significance	-1	RCV003027453;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439291	65439291	NC_000007.13:g.65439291T>A	-
NM_000181.4(GUSB):c.1359G>A (p.Ala453=)	2990	GUSB	Benign	118066970	RCV000871250;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439314	65439314	7:g.65439314C>T	-
NM_000181.4(GUSB):c.1358C>T (p.Ala453Val)	2990	GUSB	Uncertain significance	912985278	RCV001920452;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439315	65439315	65439315	-
NM_000181.4(GUSB):c.1350C>T (p.Asn450=)	2990	GUSB	Likely benign	-1	RCV002932160\|RCV003458157;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900	7	65439323	65439323		-
NM_000181.4(GUSB):c.1349A>G (p.Asn450Ser)	2990	GUSB	Uncertain significance	2115949680	RCV002026421;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439324	65439324	65439324	-
NM_000181.4(GUSB):c.1341T>C (p.Ser447=)	2990	GUSB	Likely benign	-1	RCV002890506;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439332	65439332		-
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter)	2990	GUSB	Pathogenic	121918180	RCV000000952;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439335	65439335	7:g.65439335C>T	ClinGen:CA339851,OMIM:611499.0011	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)	2990	GUSB	Pathogenic	1434169374	RCV000590006\|RCV001206155;	N	MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200, Orphanet:583\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439336	65439336	7:g.65439336C>T	ClinGen:CA367643462	C0026709 253200 Mucopolysaccharidosis type VI;
NM_000181.4(GUSB):c.1330G>A (p.Val444Met)	2990	GUSB	Uncertain significance	-1	RCV002637093;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439343	65439343	NC_000007.13:g.65439343C>T	-
NM_000181.4(GUSB):c.1329C>T (p.Val443=)	2990	GUSB	Benign/Likely benign	139776224	RCV000877721\|RCV003432855;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900	7	65439344	65439344	7:g.65439344G>A	-
NM_000181.4(GUSB):c.1326G>A (p.Ala442=)	2990	GUSB	Likely benign	1226319325	RCV002132777;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439347	65439347	65439347	-
NM_000181.4(GUSB):c.1325C>T (p.Ala442Val)	2990	GUSB	Uncertain significance	763845326	RCV002033698\|RCV002272555;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900	7	65439348	65439348	65439348	-
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)	2990	GUSB	Uncertain significance	143040697	RCV001044941;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439382	65439382	7:g.65439382C>T	-
NM_000181.4(GUSB):c.1288A>C (p.Met430Leu)	2990	GUSB	Uncertain significance	768428238	RCV001892735;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439385	65439385	65439385	-
NM_000181.4(GUSB):c.1285G>T (p.Val429Leu)	2990	GUSB	Uncertain significance	-1	RCV002298031\|RCV003308119;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65439388	65439388	65439388	-
NM_000181.4(GUSB):c.1285G>A (p.Val429Met)	2990	GUSB	Uncertain significance	-1	RCV003135500;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439388	65439388	NC_000007.13:g.65439388C>T	-
NM_000181.4(GUSB):c.1273C>A (p.His425Asn)	2990	GUSB	Uncertain significance	-1	RCV002991629;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439400	65439400	NC_000007.13:g.65439400G>T	-
NM_000181.4(GUSB):c.1270C>A (p.His424Asn)	2990	GUSB	Uncertain significance	866996794	RCV001896460;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439403	65439403	65439403	-
NM_000181.4(GUSB):c.1245-4G>T	2990	GUSB	Uncertain significance	548368848	RCV001164420;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439432	65439432	7:g.65439432C>A	-
NM_000181.4(GUSB):c.1245-4G>A	2990	GUSB	Uncertain significance	548368848	RCV001164421;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439432	65439432	7:g.65439432C>T	-
NM_000181.4(GUSB):c.1245-5C>T	2990	GUSB	Likely benign	-1	RCV002755107;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439433	65439433	NC_000007.13:g.65439433G>A	-
NM_000181.4(GUSB):c.1245-15C>T	2990	GUSB	Benign/Likely benign	62470935	RCV000675833\|RCV001159484;	N	MedGen:C3661900\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439443	65439443	7:g.65439443G>A	-	CN517202 not provided;
NM_000181.4(GUSB):c.1245-19C>T	2990	GUSB	Likely benign	995961802	RCV002077972;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439447	65439447	65439447	-
NM_000181.4(GUSB):c.1245-19C>A	2990	GUSB	Likely benign	-1	RCV002922192;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439447	65439447	NC_000007.13:g.65439447G>T	-
NM_000181.4(GUSB):c.1244+19C>T	2990	GUSB	Likely benign	-1	RCV002962306;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439494	65439494	NC_000007.13:g.65439494G>A	-
NM_000181.4(GUSB):c.1244+17C>T	2990	GUSB	Likely benign	199587731	RCV002142378;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439496	65439496	65439496	-
NM_000181.4(GUSB):c.1244+1G>A	2990	GUSB	Pathogenic	765969571	RCV001251384;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439512	65439512	7:g.65439512C>T	-
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)	2990	GUSB	Uncertain significance	751025746	RCV001782242\|RCV003331203;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:CN169374	7	65439513	65439513	65439513	-
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)	2990	GUSB	Conflicting interpretations of pathogenicity	150686327	RCV000264749;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439517	65439517	7:g.65439517G>A	ClinGen:CA4276347	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)	2990	GUSB	Uncertain significance	752523400	RCV001159485\|RCV001357319;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:CN517202	7	65439519	65439519	7:g.65439519G>A	-
NM_000181.4(GUSB):c.1232G>A (p.Gly411Asp)	2990	GUSB	Uncertain significance	-1	RCV003131091;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439525	65439525	NC_000007.13:g.65439525C>T	-
NM_000181.4(GUSB):c.1227C>T (p.Gly409=)	2990	GUSB	Likely benign	-1	RCV002994270;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439530	65439530		-
NM_000181.4(GUSB):c.1224C>T (p.Pro408=)	2990	GUSB	Likely benign	757418833	RCV002089600;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439533	65439533	65439533	-
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser)	2990	GUSB	Uncertain significance	779091113	RCV001782240\|RCV003388046;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:CN169374	7	65439535	65439535	65439535	-
NM_000181.4(GUSB):c.1213G>A (p.Asp405Asn)	2990	GUSB	Uncertain significance	200149500	RCV001983279;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439544	65439544	65439544	-
NM_000181.4(GUSB):c.1212C>T (p.Ile404=)	2990	GUSB	Likely benign	375214425	RCV002158476;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439545	65439545	65439545	-
NM_000181.4(GUSB):c.1193G>A (p.Arg398His)	2990	GUSB	Uncertain significance	776843811	RCV000303569;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439564	65439564	7:g.65439564C>T	ClinGen:CA4276361	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)	2990	GUSB	Conflicting interpretations of pathogenicity	-1	RCV003135501;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439565	65439565	NC_000007.13:g.65439565G>A	-
NM_000181.4(GUSB):c.1167A>C (p.Ala389=)	2990	GUSB	Likely benign	-1	RCV003018539;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439590	65439590		-
NM_000181.4(GUSB):c.1161C>G (p.Pro387=)	2990	GUSB	Likely benign	1791437300	RCV001980288;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439596	65439596	65439596	-
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)	2990	GUSB	Pathogenic/Likely pathogenic	764018631	RCV001825115;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439612	65439612	65439612	-
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)	2990	GUSB	Pathogenic/Likely pathogenic	121918173	RCV000000942\|RCV000170573;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750, Orphanet:363999	7	65439613	65439613	7:g.65439613G>A	ClinGen:CA199699,UniProtKB:P08236#VAR_003198,OMIM:611499.0002	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)	2990	GUSB	Uncertain significance	377615121	RCV001371646;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439619	65439619	65439619	-
NM_000181.4(GUSB):c.1137C>T (p.Asn379=)	2990	GUSB	Likely benign	371271170	RCV001503142;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439620	65439620	65439620	-
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)	2990	GUSB	Uncertain significance	1289930946	RCV001040144;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439621	65439621	7:g.65439621T>C	-
NM_000181.4(GUSB):c.1135A>T (p.Asn379Tyr)	2990	GUSB	Uncertain significance	1207640167	RCV002033808;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439622	65439622	65439622	-
NM_000181.4(GUSB):c.1121G>A (p.Arg374His)	2990	GUSB	Uncertain significance	780716481	RCV001933676;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439636	65439636	65439636	-
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del)	2990	GUSB	Likely pathogenic	1791443181	RCV001644996;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439647	65439673	65439646	-
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)	2990	GUSB	Uncertain significance	771629102	RCV001341239\|RCV003226461;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:CN169374	7	65439666	65439666	65439666	-
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)	2990	GUSB	Conflicting interpretations of pathogenicity	398123234	RCV000179731\|RCV003129771;	N	MedGen:C3661900\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439673	65439673	7:g.65439673C>T	ClinGen:CA220459,UniProtKB:P08236#VAR_058516	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)	2990	GUSB	Pathogenic/Likely pathogenic	121918185	RCV000000956\|RCV000170582\|RCV001528837;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750, Orphanet:363999\|MedGen:C3661900	7	65439688	65439688	7:g.65439688G>A	ClinGen:CA199717,OMIM:611499.0016	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1066-5C>T	2990	GUSB	Conflicting interpretations of pathogenicity	376501876	RCV000968435\|RCV002548328;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65439696	65439696	7:g.65439696G>A	-
NM_000181.4(GUSB):c.1066-16C>T	2990	GUSB	Likely benign	758677498	RCV002194438;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439707	65439707	65439707	-
NM_000181.4(GUSB):c.1065+27C>G	2990	GUSB	Benign	781143	RCV000078322\|RCV000675834\|RCV001701655;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439879	65439879	7:g.65439879G>C	ClinGen:CA145848	CN517202 not provided;
NM_000181.4(GUSB):c.1065+18G>A	2990	GUSB	Likely benign	-1	RCV002725952;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439888	65439888	NC_000007.13:g.65439888C>T	-
NM_000181.4(GUSB):c.1065+4T>C	2990	GUSB	Uncertain significance	778151820	RCV001878953;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439902	65439902	65439902	-
NM_000181.4(GUSB):c.1065C>T (p.Asp355=)	2990	GUSB	Uncertain significance	758070679	RCV001052161;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439906	65439906	7:g.65439906G>A	-
NM_000181.4(GUSB):c.1062G>A (p.Ala354=)	2990	GUSB	Likely benign	554759648	RCV000960628;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439909	65439909	7:g.65439909C>T	-
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)	2990	GUSB	Uncertain significance	121918175	RCV000000944;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439910	65439910	7:g.65439910G>A	OMIM:611499.0004,ClinGen:CA339840,UniProtKB:P08236#VAR_003197	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn)	2990	GUSB	Pathogenic	121918182	RCV000000954;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439921	65439921	7:g.65439921C>G	ClinGen:CA339853,UniProtKB:P08236#VAR_037923,OMIM:611499.0013	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)	2990	GUSB	Conflicting interpretations of pathogenicity	121918182	RCV001159486;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439921	65439921	7:g.65439921C>T	-
NM_000181.4(GUSB):c.1044C>T (p.Val348=)	2990	GUSB	Likely benign	-1	RCV002754992;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439927	65439927		-
NM_000181.4(GUSB):c.1041T>C (p.Gly347=)	2990	GUSB	Benign	141303888	RCV000871251;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439930	65439930	7:g.65439930A>G	-
NM_000181.4(GUSB):c.1023A>G (p.Lys341=)	2990	GUSB	Likely benign	774381911	RCV001428369;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439948	65439948	7:g.65439948T>C	-
NM_000181.4(GUSB):c.1020G>A (p.Gly340=)	2990	GUSB	Likely benign	372851133	RCV000873622;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439951	65439951	7:g.65439951C>T	-
NM_000181.4(GUSB):c.1002C>T (p.Ser334=)	2990	GUSB	Likely benign	1166045525	RCV002100731;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439969	65439969	65439969	-
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)	2990	GUSB	Conflicting interpretations of pathogenicity	561880652	RCV000360113;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439983	65439983	7:g.65439983C>A	ClinGen:CA4276429	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu)	2990	GUSB	Uncertain significance	1583924426	RCV000790915;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439991	65439991	7:g.65439991C>A	-
NM_000181.4(GUSB):c.979C>T (p.Arg327Cys)	2990	GUSB	Uncertain significance	-1	RCV002976110;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65439992	65439992	NC_000007.13:g.65439992G>A	-
NM_000181.4(GUSB):c.970G>A (p.Val324Met)	2990	GUSB	Uncertain significance	-1	RCV003045592;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65440001	65440001	NC_000007.13:g.65440001C>T	-
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser)	2990	GUSB	Conflicting interpretations of pathogenicity	886044680	RCV000359374\|RCV002518164;	N	MedGen:CN517202\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65440012	65440012	7:g.65440012T>G	ClinGen:CA10607051,UniProtKB:P08236#VAR_037922	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.955T>C (p.Phe319Leu)	2990	GUSB	Uncertain significance	757549474	RCV001897566;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65440016	65440016	65440016	-
NM_000181.4(GUSB):c.953A>G (p.Asp318Gly)	2990	GUSB	Uncertain significance	-1	RCV002996707;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65440018	65440018	NC_000007.13:g.65440018T>C	-
NM_000181.4(GUSB):c.933G>A (p.Thr311=)	2990	GUSB	Likely benign	188921177	RCV001475021;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65440038	65440038	65440038	-
NM_000181.4(GUSB):c.932dup (p.Ser312fs)	2990	GUSB	Pathogenic	-1	RCV003007803;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65440038	65440039	NC_000007.13:g.65440039dup	-
NM_000181.4(GUSB):c.918G>T (p.Gln306His)	2990	GUSB	Uncertain significance	375828604	RCV000697725\|RCV003163221;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65440053	65440053	NC_000007.13:g.65440053C>A	-	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.913-16G>A	2990	GUSB	Likely benign	2115962921	RCV002186530;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65440074	65440074	65440074	-
NM_000181.4(GUSB):c.912+18C>G	2990	GUSB	Likely benign	-1	RCV002711070;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65440984	65440984	NC_000007.13:g.65440984G>C	-
NM_000181.4(GUSB):c.893C>T (p.Ala298Val)	2990	GUSB	Likely pathogenic	1451709678	RCV000758004;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441021	65441021	NC_000007.13:g.65441021G>A	-
NM_000181.4(GUSB):c.882C>T (p.His294=)	2990	GUSB	Likely benign	766837276	RCV002100470;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441032	65441032	65441032	-
NM_000181.4(GUSB):c.875T>C (p.Leu292Pro)	2990	GUSB	Uncertain significance	-1	RCV003135505;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441039	65441039	NC_000007.13:g.65441039A>G	-
NM_000181.4(GUSB):c.871T>A (p.Tyr291Asn)	2990	GUSB	Uncertain significance	760452541	RCV001867361;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441043	65441043	65441043	-
NM_000181.4(GUSB):c.870G>A (p.Pro290=)	2990	GUSB	Likely benign	377665214	RCV001939408;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441044	65441044	65441044	-
NM_000181.4(GUSB):c.861C>T (p.Leu287=)	2990	GUSB	Likely benign	753430922	RCV002078550;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441053	65441053	65441053	-
NM_000181.4(GUSB):c.828C>T (p.Thr276=)	2990	GUSB	Likely benign	-1	RCV003085478;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441086	65441086		-
NM_000181.4(GUSB):c.813G>A (p.Ala271=)	2990	GUSB	Likely benign	150999162	RCV002149382;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441101	65441101	65441101	-
NM_000181.4(GUSB):c.812C>A (p.Ala271Glu)	2990	GUSB	Uncertain significance	-1	RCV002938731;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441102	65441102	NC_000007.13:g.65441102G>T	-
NM_000181.4(GUSB):c.812C>T (p.Ala271Val)	2990	GUSB	Uncertain significance	-1	RCV002949246;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441102	65441102	NC_000007.13:g.65441102G>A	-
NM_000181.4(GUSB):c.808G>A (p.Val270Met)	2990	GUSB	Uncertain significance	-1	RCV002942415;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441106	65441106	NC_000007.13:g.65441106C>T	-
NM_000181.4(GUSB):c.807C>T (p.Val269=)	2990	GUSB	Likely benign	571704452	RCV001415248;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441107	65441107	7:g.65441107G>A	-
NM_000181.4(GUSB):c.805G>C (p.Val269Leu)	2990	GUSB	Uncertain significance	755211573	RCV001995216;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441109	65441109	65441109	-
NM_000181.4(GUSB):c.781C>G (p.Arg261Gly)	2990	GUSB	Uncertain significance	-1	RCV003031696;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441133	65441133	NC_000007.13:g.65441133G>C	-
NM_000181.4(GUSB):c.766T>C (p.Phe256Leu)	2990	GUSB	Uncertain significance	200941434	RCV001977754;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441148	65441148	65441148	-
NM_000181.4(GUSB):c.765G>T (p.Leu255=)	2990	GUSB	Likely benign	2115977392	RCV002201618;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441149	65441149	65441149	-
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)	2990	GUSB	Uncertain significance	140709901	RCV001352158;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441150	65441150	65441150	-
NM_000181.4(GUSB):c.760A>C (p.Asn254His)	2990	GUSB	Uncertain significance	150086524	RCV001953950;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441154	65441154	65441154	-
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)	2990	GUSB	Pathogenic	-1	RCV002908998;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441176	65441176	NC_000007.13:g.65441176G>C	-
NM_000181.4(GUSB):c.725-8dup	2990	GUSB	Likely benign	768444459	RCV002216395;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441196	65441197	65441196	-
NM_000181.4(GUSB):c.725-11G>A	2990	GUSB	Likely benign	-1	RCV003092857;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441200	65441200	NC_000007.13:g.65441200C>T	-
NM_000181.4(GUSB):c.725-18CT[2]	2990	GUSB	Likely benign	1173385478	RCV002107989;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441202	65441203	65441201	-
NM_000181.4(GUSB):c.725-16C>T	2990	GUSB	Benign/Likely benign	62470936	RCV001512342;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441205	65441205	65441205	-
NM_000181.4(GUSB):c.725-18C>G	2990	GUSB	Likely benign	754699640	RCV002209390;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441207	65441207	65441207	-
NM_000181.4(GUSB):c.725-18C>A	2990	GUSB	Likely benign	-1	RCV002627171;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65441207	65441207	NC_000007.13:g.65441207G>T	-
NM_000181.4(GUSB):c.724+23TC[3]	2990	GUSB	Benign	3830444	RCV000078331\|RCV000675836\|RCV001701491;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444359	65444360	7:g.65444359_65444360insGA	ClinGen:CA145855	CN517202 not provided;
NM_000181.4(GUSB):c.724+17G>C	2990	GUSB	Likely benign	2116026712	RCV002179901;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444369	65444369	65444369	-
NM_000181.4(GUSB):c.724+1G>T	2990	GUSB	Likely pathogenic	2116026958	RCV003226648;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444385	65444385		-
NM_000181.4(GUSB):c.697G>A (p.Val233Ile)	2990	GUSB	Uncertain significance	202210104	RCV000792315\|RCV003380712;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65444413	65444413	7:g.65444413C>T	-
NM_000181.4(GUSB):c.696C>T (p.Thr232=)	2990	GUSB	Likely benign	-1	RCV002573900;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444414	65444414		-
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)	2990	GUSB	Uncertain significance	138618819	RCV001159487;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444415	65444415	7:g.65444415G>C	-
NM_000181.4(GUSB):c.695C>T (p.Thr232Ile)	2990	GUSB	Uncertain significance	-1	RCV002611682;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444415	65444415	NC_000007.13:g.65444415G>A	-
NM_000181.4(GUSB):c.694A>G (p.Thr232Ala)	2990	GUSB	Uncertain significance	1332406445	RCV001948699\|RCV003355677;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65444416	65444416	65444416	-
NM_000181.4(GUSB):c.684C>A (p.Ile228=)	2990	GUSB	Likely benign	375590538	RCV000876677;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444426	65444426	7:g.65444426G>T	-
NM_000181.4(GUSB):c.684C>T (p.Ile228=)	2990	GUSB	Likely benign	375590538	RCV001435832;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444426	65444426	65444426	-
NM_000181.4(GUSB):c.681C>T (p.Tyr227=)	2990	GUSB	Likely benign	1791831745	RCV002150160;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444429	65444429	65444429	-
NM_000181.4(GUSB):c.678C>T (p.Thr226=)	2990	GUSB	Benign	537957979	RCV000178059\|RCV000267693;	N	MedGen:CN169374\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444432	65444432	7:g.65444432G>A	ClinGen:CA202702	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.669A>T (p.Thr223=)	2990	GUSB	Likely benign	201178083	RCV001444420;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444441	65444441	7:g.65444441T>A	-
NM_000181.4(GUSB):c.666G>A (p.Thr222=)	2990	GUSB	Likely benign	773822519	RCV002071690;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444444	65444444	65444444	-
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)	2990	GUSB	Uncertain significance	760324067	RCV001362931;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444452	65444452	65444452	-
NM_000181.4(GUSB):c.657T>G (p.Leu219=)	2990	GUSB	Likely benign	764393614	RCV002167670;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444453	65444453	65444453	-
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln)	2990	GUSB	Likely pathogenic	1791836120	RCV001548754;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444463	65444463	65444463	-
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)	2990	GUSB	Pathogenic/Likely pathogenic	121918174	RCV000000943;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444464	65444464	7:g.65444464G>A	ClinGen:CA339839,UniProtKB:P08236#VAR_003196,OMIM:611499.0003	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.633C>T (p.Tyr211=)	2990	GUSB	Benign	140278510	RCV002119617;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444477	65444477	65444477	-
NM_000181.4(GUSB):c.614A>G (p.Tyr205Cys)	2990	GUSB	Uncertain significance	2116029247	RCV001973973;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444496	65444496	65444496	-
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)	2990	GUSB	Uncertain significance	367989163	RCV001298217\|RCV002541856;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65444497	65444497	65444497	-
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)	2990	GUSB	Pathogenic	-1	RCV003039047;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444506	65444506	NC_000007.13:g.65444506G>A	-
NM_000181.4(GUSB):c.582-3T>G	2990	GUSB	Uncertain significance	-1	RCV003131090;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444531	65444531	NC_000007.13:g.65444531A>C	-
NM_000181.4(GUSB):c.582-7A>C	2990	GUSB	Likely benign	-1	RCV003040551;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444535	65444535	NC_000007.13:g.65444535T>G	-
NM_000181.4(GUSB):c.582-9C>T	2990	GUSB	Likely benign	-1	RCV002755875;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444537	65444537	NC_000007.13:g.65444537G>A	-
NM_000181.4(GUSB):c.582-15G>A	2990	GUSB	Likely benign	-1	RCV003021174;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444543	65444543	NC_000007.13:g.65444543C>T	-
NM_000181.4(GUSB):c.582-17C>T	2990	GUSB	Likely benign	760650363	RCV002094544;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444545	65444545	65444545	-
NM_000181.4(GUSB):c.582-19C>G	2990	GUSB	Likely benign	-1	RCV002800084;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444547	65444547	NC_000007.13:g.65444547G>C	-
NM_000181.4(GUSB):c.581+16C>T	2990	GUSB	Likely benign	768612200	RCV002129374;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444698	65444698	65444698	-
NM_000181.4(GUSB):c.560_581+13del	2990	GUSB	Likely pathogenic	-1	RCV003016456;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444701	65444735	NC_000007.13:g.65444708_65444742del	-
NM_000181.4(GUSB):c.581+10A>G	2990	GUSB	Likely benign	1233559582	RCV002147038;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444704	65444704	65444704	-
NM_000181.4(GUSB):c.581+8C>T	2990	GUSB	Likely benign	527730129	RCV002186155;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444706	65444706	65444706	-
NM_000181.4(GUSB):c.570T>C (p.Thr190=)	2990	GUSB	Likely benign	-1	RCV002770900;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444725	65444725		-
NM_000181.4(GUSB):c.561A>G (p.Gln187=)	2990	GUSB	Benign	74430256	RCV000675837\|RCV001080070;	N	MedGen:C3661900\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444734	65444734	NC_000007.13:g.65444734T>C	-	CN517202 not provided;
NM_000181.4(GUSB):c.553A>C (p.Thr185Pro)	2990	GUSB	Uncertain significance	755465262	RCV001883033;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444742	65444742	65444742	-
NM_000181.4(GUSB):c.552G>A (p.Gly184=)	2990	GUSB	Likely benign	768029322	RCV001407783;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444743	65444743	65444743	-
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)	2990	GUSB	Uncertain significance	1427132394	RCV001216187;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444759	65444759	7:g.65444759G>A	-
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)	2990	GUSB	Uncertain significance	11559281	RCV001160849;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444763	65444763	7:g.65444763G>T	-
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser)	2990	GUSB	Uncertain significance	11559281	RCV001216186;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444763	65444763	7:g.65444763G>A	-
NM_000181.4(GUSB):c.531C>A (p.Thr177=)	2990	GUSB	Uncertain significance	1392513223	RCV001160850;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444764	65444764	7:g.65444764G>T	-
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile)	2990	GUSB	Pathogenic	587779400	RCV000087087;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444765	65444765	7:g.65444765G>A	ClinGen:CA345453	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)	2990	GUSB	Pathogenic	121918181	RCV000000953\|RCV000586449\|RCV000790722;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200, Orphanet:583\|MedGen:C3661900	7	65444769	65444769	NC_000007.13:g.65444769G>A	ClinGen:CA220466,UniProtKB:P08236#VAR_037920,OMIM:611499.0012	C0026709 253200 Mucopolysaccharidosis type VI;
NM_000181.4(GUSB):c.510C>T (p.Ile170=)	2990	GUSB	Likely benign	752674900	RCV001500098;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444785	65444785	7:g.65444785G>A	-
NM_000181.4(GUSB):c.493C>T (p.Arg165Trp)	2990	GUSB	Uncertain significance	771137253	RCV001942769;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444802	65444802	65444802	-
NM_000181.4(GUSB):c.492C>T (p.Ser164=)	2990	GUSB	Likely benign	-1	RCV002630449;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444803	65444803		-
NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet)	2990	GUSB	Uncertain significance	-1	RCV002910025;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444820	65444831	NC_000007.13:g.65444820_65444831del	-
NM_000181.4(GUSB):c.466C>T (p.Leu156=)	2990	GUSB	Likely benign	1410086265	RCV001480317;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444829	65444829	65444829	-
NM_000181.4(GUSB):c.465C>G (p.Asn155Lys)	2990	GUSB	Uncertain significance	-1	RCV002838196;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444830	65444830	NC_000007.13:g.65444830G>C	-
NM_000181.4(GUSB):c.456C>T (p.Asp152=)	2990	GUSB	Likely benign	1420034681	RCV001430334;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444839	65444839	65444839	-
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)	2990	GUSB	Conflicting interpretations of pathogenicity; other	149606212	RCV000550006\|RCV001252504\|RCV001726216;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenot	7	65444841	65444841	7:g.65444841C>T	ClinGen:CA4276629	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.453C>G (p.Ala151=)	2990	GUSB	Likely benign	144397476	RCV001488413;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444842	65444842	7:g.65444842G>C	-
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)	2990	GUSB	Uncertain significance	764486500	RCV001347158;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444845	65444845	65444845	-
NM_000181.4(GUSB):c.447C>T (p.Phe149=)	2990	GUSB	Likely benign	148364905	RCV001498833;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444848	65444848	65444848	-
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser)	2990	GUSB	Pathogenic	121918177	RCV000000946;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444853	65444853	7:g.65444853G>A	ClinGen:CA339842,UniProtKB:P08236#VAR_037917,OMIM:611499.0006	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.430G>T (p.Gly144Trp)	2990	GUSB	Uncertain significance	-1	RCV003131092;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444865	65444865	NC_000007.13:g.65444865C>A	-
NM_000181.4(GUSB):c.429G>T (p.Glu143Asp)	2990	GUSB	Uncertain significance	-1	RCV002948485;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444866	65444866	NC_000007.13:g.65444866C>A	-
NM_000181.4(GUSB):c.420A>C (p.Leu140=)	2990	GUSB	Likely benign	-1	RCV003056139;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444875	65444875		-
NM_000181.4(GUSB):c.417G>A (p.Thr139=)	2990	GUSB	Likely benign	-1	RCV002890983;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444878	65444878		-
NM_000181.4(GUSB):c.414C>T (p.Asp138=)	2990	GUSB	Likely benign	1444763456	RCV002181192;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444881	65444881	65444881	-
NM_000181.4(GUSB):c.411C>T (p.Val137=)	2990	GUSB	Likely benign	-1	RCV002949384;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444884	65444884		-
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)	2990	GUSB	Likely pathogenic	-1	RCV002510326;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444889	65444889	NC_000007.13:g.65444889C>T	-
NM_000181.4(GUSB):c.397-10G>C	2990	GUSB	Likely benign	-1	RCV003039501;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444908	65444908	NC_000007.13:g.65444908C>G	-
NM_000181.4(GUSB):c.397-20dup	2990	GUSB	Benign	765594686	RCV002207839;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444917	65444918	65444917	-
NM_000181.4(GUSB):c.397-19G>A	2990	GUSB	Likely benign	759668020	RCV002110485;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65444917	65444917	65444917	-
NM_000181.4(GUSB):c.396+17G>A	2990	GUSB	Likely benign	-1	RCV002701160;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445194	65445194	NC_000007.13:g.65445194C>T	-
NM_000181.4(GUSB):c.396+15G>T	2990	GUSB	Likely benign	757135258	RCV002117510;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445196	65445196	65445196	-
NM_000181.4(GUSB):c.396+8C>T	2990	GUSB	Likely benign	-1	RCV003009216;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445203	65445203	NC_000007.13:g.65445203G>A	-
NM_000181.4(GUSB):c.396+1G>A	2990	GUSB	Likely pathogenic	-1	RCV002637839;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445210	65445210	NC_000007.13:g.65445210C>T	-
NM_000181.4(GUSB):c.394G>A (p.Val132Met)	2990	GUSB	Uncertain significance	769151272	RCV002000539;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445213	65445213	65445213	-
NM_000181.4(GUSB):c.393C>T (p.Ile131=)	2990	GUSB	Likely benign	-1	RCV002624511;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445214	65445214		-
NM_000181.4(GUSB):c.388G>A (p.Ala130Thr)	2990	GUSB	Uncertain significance	-1	RCV003135503;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445219	65445219	NC_000007.13:g.65445219C>T	-
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)	2990	GUSB	Uncertain significance	-1	RCV002790779;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445224	65445224	NC_000007.13:g.65445224G>A	-
NM_000181.4(GUSB):c.380A>G (p.His127Arg)	2990	GUSB	Uncertain significance	765699404	RCV002247880\|RCV002488626;	N	MedGen:CN169374\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445227	65445227	65445227	-
NM_000181.4(GUSB):c.373A>C (p.Ser125Arg)	2990	GUSB	Uncertain significance	2116040590	RCV002037080;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445234	65445234	65445234	-
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser)	2990	GUSB	Uncertain significance	1583946993	RCV000987892;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445241	65445241	7:g.65445241C>G	-
NM_000181.4(GUSB):c.366G>A (p.Arg122=)	2990	GUSB	Likely benign	-1	RCV002760668;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445241	65445241		-
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly)	2990	GUSB	Uncertain significance	767239546	RCV001160851;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445255	65445255	7:g.65445255T>C	-
NM_000181.4(GUSB):c.347G>A (p.Arg116His)	2990	GUSB	Uncertain significance	538431094	RCV001160852;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445260	65445260	7:g.65445260C>T	-
NM_000181.4(GUSB):c.338A>G (p.Gln113Arg)	2990	GUSB	Uncertain significance	1791915416	RCV002005771;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445269	65445269	65445269	-
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)	2990	GUSB	Pathogenic	1053785648	RCV000594255\|RCV001783100;	N	MedGen:CN517202\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445279	65445279	7:g.65445279G>A	ClinGen:CA159910371	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.324G>A (p.Pro108=)	2990	GUSB	Conflicting interpretations of pathogenicity	546131174	RCV001160853;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445283	65445283	7:g.65445283C>T	-
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu)	2990	GUSB	Uncertain significance	1268678201	RCV001195843;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445284	65445284	7:g.65445284G>A	-
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)	2990	GUSB	Conflicting interpretations of pathogenicity	786205673	RCV000170584\|RCV001283824;	N	Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750, Orphanet:363999\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445300	65445300	7:g.65445300G>A	ClinGen:CA199721	C0455988 236750 Non-immune hydrops fetalis;
NM_000181.4(GUSB):c.306A>G (p.Glu102=)	2990	GUSB	Likely benign	2116042007	RCV002103130;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445301	65445301	65445301	-
NM_000181.4(GUSB):c.303C>T (p.Tyr101=)	2990	GUSB	Likely benign	-1	RCV002994916;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445304	65445304		-
NM_000181.4(GUSB):c.251A>G (p.Asn84Ser)	2990	GUSB	Uncertain significance	-1	RCV002891073;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445356	65445356	NC_000007.13:g.65445356T>C	-
NM_000181.4(GUSB):c.245G>A (p.Ser82Asn)	2990	GUSB	Uncertain significance	-1	RCV002903167;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445362	65445362	NC_000007.13:g.65445362C>T	-
NM_000181.4(GUSB):c.238C>G (p.Pro80Ala)	2990	GUSB	Uncertain significance	-1	RCV003017416;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445369	65445369	NC_000007.13:g.65445369G>C	-
NM_000181.4(GUSB):c.230T>G (p.Met77Arg)	2990	GUSB	Uncertain significance	751845855	RCV001903506;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445377	65445377	65445377	-
NM_000181.4(GUSB):c.229A>G (p.Met77Val)	2990	GUSB	Uncertain significance	-1	RCV003135504;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445378	65445378	NC_000007.13:g.65445378T>C	-
NM_000181.4(GUSB):c.222C>T (p.Thr74=)	2990	GUSB	Benign/Likely benign	140016611	RCV000633324;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445385	65445385	NC_000007.13:g.65445385G>A	ClinGen:CA4276705	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.216C>T (p.Gly72=)	2990	GUSB	Benign	77774169	RCV000325110;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445391	65445391	7:g.65445391G>A	ClinGen:CA4276708	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.211-7T>C	2990	GUSB	Likely benign	1299733589	RCV001497580;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445403	65445403	65445403	-
NM_000181.4(GUSB):c.211-8C>G	2990	GUSB	Conflicting interpretations of pathogenicity	2293340	RCV000382002;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445404	65445404	7:g.65445404G>C	ClinGen:CA4276709	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.211-17G>C	2990	GUSB	Likely benign	749802416	RCV002193698;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445413	65445413	65445413	-
NM_000181.4(GUSB):c.211-18C>T	2990	GUSB	Likely benign	774828816	RCV002154174;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65445414	65445414	65445414	-
NM_000181.4(GUSB):c.210+13G>A	2990	GUSB	Likely benign	-1	RCV002746144;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446948	65446948	NC_000007.13:g.65446948C>T	-
NM_000181.4(GUSB):c.210+11G>C	2990	GUSB	Uncertain significance	886062403	RCV000271073;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446950	65446950	7:g.65446950C>G	ClinGen:CA10629335	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.210+5G>C	2990	GUSB	Uncertain significance	-1	RCV002918525;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446956	65446956	NC_000007.13:g.65446956C>G	-
NM_000181.4(GUSB):c.210+5G>A	2990	GUSB	Uncertain significance	-1	RCV003020374;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446956	65446956	NC_000007.13:g.65446956C>T	-
NM_000181.4(GUSB):c.202C>T (p.Leu68=)	2990	GUSB	Likely benign	746199104	RCV002547176;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446969	65446969	7:g.65446969G>A	-
NM_000181.4(GUSB):c.201G>T (p.Pro67=)	2990	GUSB	Likely benign	-1	RCV002721510;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446970	65446970		-
NM_000181.4(GUSB):c.200C>T (p.Pro67Leu)	2990	GUSB	Uncertain significance	948834547	RCV001874614;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446971	65446971	65446971	-
NM_000181.4(GUSB):c.196C>T (p.Arg66Trp)	2990	GUSB	Uncertain significance	776085845	RCV001954089;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446975	65446975	65446975	-
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)	2990	GUSB	Uncertain significance	571736757	RCV001347325;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446986	65446986	65446986	-
NM_000181.4(GUSB):c.185A>C (p.Gln62Pro)	2990	GUSB	Uncertain significance	-1	RCV002953154;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65446986	65446986	NC_000007.13:g.65446986T>G	-
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu)	2990	GUSB	Uncertain significance	769252159	RCV000675838\|RCV001309357;	N	MedGen:CN517202\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447001	65447001	7:g.65447001C>A	-	CN517202 not provided;
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)	2990	GUSB	Uncertain significance	772676579	RCV001341594\|RCV002546935;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65447002	65447002	65447002	-
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)	2990	GUSB	Pathogenic	1210475838	RCV001388397;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447008	65447008	65447008	-
NM_000181.4(GUSB):c.162C>T (p.Asn54=)	2990	GUSB	Benign	74975849	RCV000078325\|RCV000328521\|RCV000675839;	N	MedGen:CN169374\|MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900	7	65447009	65447009	7:g.65447009G>A	ClinGen:CA145849	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)	2990	GUSB	Uncertain significance	371314015	RCV001350748;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447014	65447014	65447014	-
NM_000181.4(GUSB):c.147C>T (p.Ala49=)	2990	GUSB	Likely benign	375940373	RCV001470989;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447024	65447024	65447024	-
NM_000181.4(GUSB):c.112T>C (p.Cys38Arg)	2990	GUSB	Uncertain significance	-1	RCV002904858;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447059	65447059	NC_000007.13:g.65447059A>G	-
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu)	2990	GUSB	Likely pathogenic	1264172545	RCV000855534;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447064	65447064	7:g.65447064C>A	-
NM_000181.4(GUSB):c.105G>C (p.Ser35=)	2990	GUSB	Likely benign	758743865	RCV001448987;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447066	65447066	65447066	-
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter)	2990	GUSB	Likely pathogenic	1238361161	RCV000721977;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447067	65447067	NC_000007.13:g.65447067G>T	-
NM_000181.4(GUSB):c.99C>T (p.Ser33=)	2990	GUSB	Likely benign	-1	RCV002700115;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447072	65447072		-
NM_000181.4(GUSB):c.78G>T (p.Gly26=)	2990	GUSB	Likely benign	-1	RCV002833886;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447093	65447093		-
NM_000181.4(GUSB):c.66G>T (p.Gly22=)	2990	GUSB	Likely benign	-1	RCV002583375;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447105	65447105		-
NM_000181.4(GUSB):c.57C>T (p.Cys19=)	2990	GUSB	Likely benign	573989102	RCV002084395;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447114	65447114	65447114	-
NM_000181.4(GUSB):c.54C>T (p.Gly18=)	2990	GUSB	Likely benign	759514074	RCV001474159;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447117	65447117	7:g.65447117G>A	-
NM_000181.4(GUSB):c.45G>A (p.Leu15=)	2990	GUSB	Uncertain significance	886062404	RCV000385298;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447126	65447126	7:g.65447126C>T	ClinGen:CA10626297	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu)	2990	GUSB	Uncertain significance	1237078772	RCV001880969;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447133	65447133	65447133	-
NM_000181.4(GUSB):c.24del (p.Trp9fs)	2990	GUSB	Pathogenic	-1	RCV003045972;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447147	65447147	NC_000007.13:g.65447148del	-
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)	2990	GUSB	Uncertain significance	376505707	RCV001374264\|RCV002550191;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MeSH:D030342,MedGen:C0950123	7	65447149	65447149	65447149	-
NM_000181.4(GUSB):c.17C>A (p.Ala6Glu)	2990	GUSB	Uncertain significance	-1	RCV002624460;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447154	65447154	NC_000007.13:g.65447154G>T	-
NM_000181.4(GUSB):c.14C>T (p.Ser5Leu)	2990	GUSB	Uncertain significance	-1	RCV002917612;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447157	65447157	NC_000007.13:g.65447157G>A	-
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)	2990	GUSB	Conflicting interpretations of pathogenicity	190496263	RCV000293404;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447158	65447158	NC_000007.13:g.65447158A>G	ClinGen:CA4276760	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.12G>A (p.Gly4=)	2990	GUSB	Likely benign	-1	RCV003113039;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447159	65447159		-
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala)	2990	GUSB	Uncertain significance	1355624664	RCV001162471;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447160	65447160	7:g.65447160C>G	-
NM_000181.4(GUSB):c.10G>A (p.Gly4Arg)	2990	GUSB	Uncertain significance	-1	RCV002886124;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447161	65447161	NC_000007.13:g.65447161C>T	-
NM_000181.4(GUSB):c.7C>T (p.Arg3Trp)	2990	GUSB	Uncertain significance	750955623	RCV001981007;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447164	65447164	65447164	-
NM_000181.4(GUSB):c.6C>G (p.Ala2=)	2990	GUSB	Likely benign	-1	RCV002908992;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447165	65447165		-
NM_000181.4(GUSB):c.2T>G (p.Met1Arg)	2990	GUSB	Likely pathogenic	-1	RCV003448854;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447169	65447169		-
NM_000181.4(GUSB):c.-10A>T	2990	GUSB	Uncertain significance	540793200	RCV001162472;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447180	65447180	7:g.65447180T>A	-
NM_000181.4(GUSB):c.-12G>A	2990	GUSB	Benign	2279903	RCV000351041\|RCV000675840\|RCV000731542;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584\|MedGen:C3661900\|MedGen:CN169374	7	65447182	65447182	NC_000007.13:g.65447182C>T	ClinGen:CA4276771	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.-19G>C	2990	GUSB	Uncertain significance	771999951	RCV000389246;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447189	65447189	NC_000007.13:g.65447189C>G	ClinGen:CA4276774	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.4(GUSB):c.-20C>T	2990	GUSB	Uncertain significance	577269089	RCV000278558;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447190	65447190	NC_000007.13:g.65447190G>A	ClinGen:CA10626303	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.3(GUSB):c.-50C>T	2990	GUSB	Likely benign	201504866	RCV000335983;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447220	65447220	NC_000007.13:g.65447220G>A	ClinGen:CA4276777	C0085132 253220 Mucopolysaccharidosis type VII;
NM_000181.3(GUSB):c.-72G>T	2990	GUSB	Likely benign	2279904	RCV000390830;	N	MONDO:MONDO:0009662,MedGen:C0085132,OMIM:253220, Orphanet:584	7	65447242	65447242	NC_000007.13:g.65447242C>A	ClinGen:CA10624162	C0085132 253220 Mucopolysaccharidosis type VII;

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