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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, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: mucopolysaccharidosis type 1 (MONDO:0001586)
..Starting node ..Scheie syndrome ()
Child Nodes:
Sister Nodes:
..Hurler syndrome ()
..Hurler-Scheie syndrome ()
..Scheie syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11760

Name:

Scheie syndrome

Definition:

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

Alternative IDs:

607016

ParentIDs:

TreeNumbers:

Synonyms:

MPS I S; MPS V; MPS V, formerly; MPS1-S; MPS1S; MPS5, formerly; MPSIS; mucopolysaccharidosis Is; mucopolysaccharidosis type 1S; mucopolysaccharidosis type IS; mucopolysaccharidosis type V; mucopolysaccharidosis type V, formerly; Scheie syndrome

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 607016;
MSeqDR :
Genes: IDUA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001659	Aortic regurgitation
3	HP:0001650	Aortic valve stenosis
4	HP:0000283	Broad face
5	HP:0012185	Constrictive median neuropathy
6	HP:0007957	Corneal opacity
7	HP:0005280	Depressed nasal bridge
8	HP:0000943	Dysostosis multiplex	HP:0040283
9	HP:0000293	Full cheeks
10	HP:0002857	Genu valgum
11	HP:0000501	Glaucoma	HP:0040283
12	HP:0000303	Mandibular prognathia
13	HP:0002870	Obstructive sleep apnea
14	HP:0001761	Pes cavus
15	HP:0000546	Retinal degeneration	HP:0040283
16	HP:0000470	Short neck
17	HP:0000445	Wide nose

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	3425	IDUA	Pathogenic/Likely pathogenic	754966840	RCV000703774\|RCV001784344\|RCV002485752;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:CN517202\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen	4	981703	981703	NC_000004.11:g.981703C>T	-	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)	3425	IDUA	Pathogenic/Likely pathogenic	931627770	RCV001062380\|RCV001784619\|RCV002482062;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:CN517202\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen	4	996599	996599	4:g.996599C>A	-
NM_000203.5(IDUA):c.34_46del (p.Ala12fs)	3425	IDUA	Pathogenic	-1	RCV003237393;	N	MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474	4	980906	980918		-
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	3425	IDUA	Pathogenic	398123260	RCV000173083\|RCV000208599\|RCV001824122\|RCV003338408\|RCV003390774;	N	MedGen:C3661900\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|	4	980907	980918	NC_000004.11:g.980918_980929del	ClinGen:CA220509	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	3425	IDUA	Pathogenic	794726877	RCV000173082\|RCV000208594\|RCV000723421\|RCV002505243;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:C3661900\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:H	4	981024	981024	4:g.981024G>A	ClinGen:CA274902,UniProtKB:P35475#VAR_003351	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.590-7G>A	3425	IDUA	Pathogenic	762411583	RCV000012688\|RCV000208601\|RCV000669065\|RCV003137798;	N	MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MedGen:CN517202	4	995460	995460	NC_000004.11:g.995460G>A	ClinGen:CA356990,OMIM:252800.0004	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	3425	IDUA	Pathogenic	869025584	RCV000208593\|RCV000592964\|RCV000672514\|RCV002500671;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:H	4	995530	995530	NC_000004.11:g.995530T>C	ClinGen:CA356986,UniProtKB:P35475#VAR_003358	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.784del (p.His262fs)	3425	IDUA	Pathogenic	757928590	RCV001229775\|RCV001726458\|RCV002480753\|RCV003142193;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:	4	995660	995660	4:g.995660_995660del	-
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	3425	IDUA	Pathogenic	121965021	RCV000012685\|RCV000208595\|RCV000486848\|RCV000763533\|RCV001267070;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:C3661900\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:H	4	997206	997206	NC_000004.11:g.997206C>G	ClinGen:CA256112,UniProtKB:P35475#VAR_003378,OMIM:252800.0003
NM_000203.5(IDUA):c.1614del (p.His539fs)	3425	IDUA	Pathogenic	727503967	RCV000173986\|RCV000790661\|RCV001248893\|RCV002498729;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MedGen:CN517202\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:H	4	997222	997222	NC_000004.11:g.997222del	ClinGen:CA234129,OMIM:252800.0009	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)	3425	IDUA	Pathogenic	1456090810	RCV001193755\|RCV002497675;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:6	4	998096	998096	4:g.998096G>A	-
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)	3425	IDUA	Pathogenic	886043347	RCV000672407\|RCV001380047\|RCV002499181;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:	4	998117	998117	NC_000004.11:g.998117C>T	-	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.1190-2A>T	3425	IDUA	Likely pathogenic	994902207	RCV000672521\|RCV002493112;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014,Orphane	4	996518	996518	4:g.996518A>T	-	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)	3425	IDUA	Likely pathogenic	121965026	RCV000012693\|RCV001781252\|RCV001851808;	N	MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MedGen:CN517202\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579	4	996896	996896	4:g.996896G>C	ClinGen:CA256120,UniProtKB:P35475#VAR_003375,OMIM:252800.0011	C0026708 607016 Mucopolysaccharidosis, MPS-I-S;
NM_000203.5(IDUA):c.-71C>T	3425	IDUA	Uncertain significance	886059748	RCV000285802\|RCV002488770;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:6	4	980802	980802	NC_000004.11:g.980802C>T	ClinGen:CA10619665	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.90C>G (p.His30Gln)	3425	IDUA	Uncertain significance	553425887	RCV001936986\|RCV002484713;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:6	4	980962	980962	980962	-
NM_000203.5(IDUA):c.99T>G (p.His33Gln)	3425	IDUA	Benign	10794537	RCV000078401\|RCV000337407\|RCV000675598\|RCV001544425\|RCV001544423\|RCV001544424;	N	MedGen:CN169374\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:C3661900\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MOND	4	980971	980971	4:g.980971T>G	ClinGen:CA145894,UniProtKB:P35475#VAR_003350	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)	3425	IDUA	Uncertain significance	950667822	RCV001957837\|RCV002497809;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:6	4	980984	980984	980984	-
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)	3425	IDUA	Uncertain significance	1421520718	RCV000669885\|RCV002507168;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476; Human Phenotype Ontology:HP:	4	981028	981028	4:g.981028C>G	-	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)	3425	IDUA	Benign	3755955	RCV000078391\|RCV000289071\|RCV000590281\|RCV001543713\|RCV001543715\|RCV001543714;	N	MedGen:CN169374\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MOND	4	994414	994414	4:g.994414G>A	ClinGen:CA145881,UniProtKB:P35475#VAR_003356	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)	3425	IDUA	Uncertain significance	372934646	RCV002047116\|RCV002506879;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:6	4	994440	994440	994440	-
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)	3425	IDUA	Uncertain significance	150763745	RCV001247276\|RCV002480846;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:6	4	995256	995256	4:g.995256G>A	-
NM_000203.5(IDUA):c.543T>C (p.Asn181=)	3425	IDUA	Benign	6815946	RCV000078395\|RCV000340349\|RCV000675602\|RCV001543816\|RCV001543815\|RCV001543814;	N	MedGen:CN169374\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:C3661900\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476\|Human Phenotype Ontology:HP:0000943,MONDO:MOND	4	995305	995305	4:g.995305T>C	ClinGen:CA145885	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.590-45G>C	3425	IDUA	Benign	6829789	RCV000241615\|RCV001543817\|RCV001543819\|RCV001543818\|RCV001689782\|RCV001833262;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476\|MedGen:C3661	4	995422	995422	4:g.995422G>C	ClinGen:CA2802015	CN169374 not specified;
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)	3425	IDUA	Uncertain significance	763375487	RCV001948373\|RCV002507611;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:6	4	995477	995477	995477	-
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)	3425	IDUA	Conflicting interpretations of pathogenicity	201826605	RCV000553823\|RCV001329096\|RCV001509227;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MedGen:C3661900	4	995578	995578	NC_000004.11:g.995578G>C	ClinGen:CA2802058	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.891C>T (p.Asn297=)	3425	IDUA	Benign/Likely benign	114806891	RCV000078399\|RCV000262223\|RCV000675605\|RCV001543823\|RCV001543825\|RCV001543824\|RCV002371925;	N	MedGen:CN169374\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MOND	4	995868	995868	4:g.995868C>T	ClinGen:CA145890	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.972+48A>G	3425	IDUA	Benign	6811373	RCV000246906\|RCV001543876\|RCV001543875\|RCV001658160\|RCV001543877\|RCV001833263;	N	MedGen:CN169374\|MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MedGen:C3661900\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93	4	995997	995997	NC_000004.11:g.995997A>G	ClinGen:CA2802139	CN169374 not specified;
NM_000203.5(IDUA):c.973-45G>C	3425	IDUA	Benign	6831021	RCV000252067\|RCV001543878\|RCV001543879\|RCV001543880\|RCV001828132\|RCV001682962;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MONDO:	4	996012	996012	NC_000004.11:g.996012G>C	ClinGen:CA2802147	CN169374 not specified;
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser)	3425	IDUA	Uncertain significance	1577541140	RCV000790382;	N	MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474	4	996133	996133	4:g.996133A>G	-
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	3425	IDUA	Conflicting interpretations of pathogenicity	121965019	RCV000012683\|RCV000078374\|RCV000384297\|RCV000477890\|RCV001004934\|RCV002227032\|RCV002251896\|RCV002512986\|RCV003398488;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MedGen:C3661900\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:H	4	996535	996535	4:g.996535G>A	ClinGen:CA220498,OMIM:252800.0001	C0086795 607014 Dysostosis multiplex;
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)	3425	IDUA	Uncertain significance	752725918	RCV001152715\|RCV002491443;	N	MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen:C0086431,OMIM:6	4	996600	996600	4:g.996600G>A	-
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)	3425	IDUA	Benign	73066479	RCV000078378\|RCV000390914\|RCV000675611\|RCV001543881\|RCV001543883\|RCV001543882;	N	MedGen:CN169374\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MOND	4	996690	996690	4:g.996690G>A	ClinGen:CA145872,UniProtKB:P35475#VAR_003372	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.1402+36T>C	3425	IDUA	Benign	115134980	RCV000248587\|RCV001543885\|RCV001543886\|RCV001543884\|RCV001618373\|RCV001828131;	N	MedGen:CN169374\|MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MedGen:C3661	4	996768	996768	NC_000004.11:g.996768T>C	ClinGen:CA2802238	CN169374 not specified;
NM_000203.5(IDUA):c.1727+72T>G	3425	IDUA	Benign	2305488	RCV001543887\|RCV001543888\|RCV001543952\|RCV001673169;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MedGen:C3661900	4	997485	997485	997485	-
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	3425	IDUA	Uncertain significance	121965025	RCV000513529\|RCV000696467\|RCV002481653;	N	MedGen:C3661900\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474; Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473; MONDO:MONDO:0011759,MedGen	4	998080	998080	4:g.998080C>G	ClinGen:CA2802458	C0023786 Mucopolysaccharidosis type I;
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	-1	IDUA;SLC26A1	Pathogenic	121965020	RCV000012684\|RCV000185562\|RCV000185563\|RCV000276574\|RCV000763532\|RCV000790700\|RCV001526587\|RCV003390671;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MONDO:0001586,MedGen:C	4	981646	981646	NC_000004.11:g.981646C>T	ClinGen:CA204563,OMIM:252800.0002	C0086795 607014 Dysostosis multiplex;
NM_022042.4(SLC26A1):c.-27-209T>C	-1	IDUA;SLC26A1	Benign	3822020	RCV001544426\|RCV001544428\|RCV001544427\|RCV001709736;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MONDO:MONDO:0011760,MedGen:C0026708,OMIM:607016, Orphanet:93474\|MONDO:MONDO:0011759,MedGen:C0086431,OMIM:607015, Orphanet:93476\|MedGen:C3661900	4	985727	985727		-

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