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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Mucopolysaccharidoses (D009083)
..Starting node ..Mucopolysaccharidosis II (D016532)
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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7432

Name:

Mucopolysaccharidosis II

Definition:

Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.

Alternative IDs:

OMIM:309900

ParentIDs:

MESH:D009083|MESH:D038901

TreeNumbers:

C10.597.606.643.455.750 |C16.320.322.500.750 |C16.320.400.525.750 |C16.320.565.202.715.645 |C16.320.565.595.600.645 |C17.300.550.575.645 |C18.452.648.202.715.645 |C18.452.648.595.600.645

Synonyms:

Slim Mappings:

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

Reference:

MedGen: D016532
MeSH: D016532
OMIM: 309900;

Genes: IDS;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001654	Abnormal heart valve morphology
3	HP:0007703	Abnormality of retinal pigmentation
4	HP:0002099	Asthma
5	HP:0002341	Cervical cord compression
6	HP:0000280	Coarse facial features
7	HP:0001635	Congestive heart failure
8	HP:0000684	Delayed eruption of teeth
9	HP:0008301	Dermatan sulfate excretion in urine
10	HP:0002014	Diarrhea
11	HP:0000268	Dolichocephaly
12	HP:0000943	Dysostosis multiplex
13	HP:0001371	Flexion contracture
14	HP:0000365	Hearing impairment
15	HP:0002159	Heparan sulfate excretion in urine
16	HP:0002240	Hepatomegaly
17	HP:0001609	Hoarse voice
18	HP:0000238	Hydrocephalus
19	HP:0000998	Hypertrichosis
20	HP:0000023	Inguinal hernia
21	HP:0002187	Intellectual disability, profound
22	HP:0004389	Intestinal pseudo-obstruction
23	HP:0002808	Kyphosis
24	HP:0000256	Macrocephaly
25	HP:0000158	Macroglossia
26	HP:0003502	Mild short stature
27	HP:0002180	Neurodegeneration
28	HP:0002870	Obstructive sleep apnea
29	HP:0001085	Papilledema
30	HP:0001761	Pes cavus
31	HP:0000508	Ptosis
32	HP:0000403	Recurrent otitis media
33	HP:0030799	Scaphocephaly
34	HP:0001250	Seizure
35	HP:0003510	Severe short stature
36	HP:0000470	Short neck
37	HP:0001744	Splenomegaly
38	HP:0001171	Split hand
39	HP:0000179	Thick lower lip vermilion
40	HP:0002786	Tracheobronchomalacia
41	HP:0001537	Umbilical hernia
42	HP:0003541	Urinary glycosaminoglycan excretion
43	HP:0000687	Widely spaced teeth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000202.7(IDS):c.1508T>A (p.Val503Asp)	3423	IDS	Likely pathogenic	398123248	RCV000180470; RCV000078362;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148564422	148564422	NM_000202.7:c.1508T>A	NP_000193.1:p.Val503Asp		-	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.1505G>C (p.Trp502Ser)	3423	IDS	Pathogenic	199422228	RCV000011234;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564425	148564425	NM_000202.7:c.1505G>C	NP_000193.1:p.Trp502Ser	NC_000023.10:g.148564425C>G	OMIM Allelic Variant:300823.0003	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1466G>C (p.Gly489Ala)	3423	IDS	Pathogenic	104894863	RCV000011248;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564464	148564464	NM_000202.7:c.1466G>C	NP_000193.1:p.Gly489Ala	NC_000023.10:g.148564464C>G	OMIM Allelic Variant:300823.0017	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1464G>T (p.Met488Ile)	3423	IDS	Pathogenic	104894862	RCV000011248;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564466	148564466	NM_000202.7:c.1464G>T	NP_000193.1:p.Met488Ile	NC_000023.10:g.148564464C>G	OMIM Allelic Variant:300823.0017	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1463delT (p.Met488Argfs)	3423	IDS	Pathogenic	869025307	RCV000207439;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564467	148564467	NM_000202.7:c.1463delT	NP_000193.1:p.Met488Argfs	NC_000023.10:g.148564467delA	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1433A>G (p.Asp478Gly)	3423	IDS	Pathogenic	864622773	RCV000205679;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564497	148564497	NM_000202.7:c.1433A>G	NP_000193.1:p.Asp478Gly	NC_000023.10:g.148564497T>C	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1425G>A (p.Trp475Ter)	3423	IDS	Pathogenic	199422230	RCV000011241;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564505	148564505	NM_000202.7:c.1425G>A	NP_000193.1:p.Trp475Ter	NC_000023.10:g.148564505C>T	OMIM Allelic Variant:300823.0010	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1403G>A (p.Arg468Gln)	3423	IDS	Pathogenic	113993946	RCV000180473; RCV000011244; RCV000078360; RCV000204179;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:C0342841; MedGen:CN221809	X	148564527	148564527	NM_000202.7:c.1403G>A	NP_000193.1:p.Arg468Gln	NC_000023.10:g.148564527C>A,NC_000023.10:g.148564527C>G,NC_000023.10:g.148564527	HGMD:CM930422,OMIM Allelic Variant:300823.0013	C0026705 309900 Mucopolysaccharidosis, MPS-II; C0342841 Mucopolysaccharidosis, type II, severe form; CN221809 not provided
NM_000202.7(IDS):c.1403G>A (p.Arg468Gln)	3423	IDS	Pathogenic	113993946	RCV000180473; RCV000011244; RCV000078360; RCV000204179;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:C0342841; MedGen:CN221809	X	148564527	148564527	NM_000202.7:c.1403G>A	NP_000193.1:p.Arg468Gln	NC_000023.10:g.148564527C>A,NC_000023.10:g.148564527C>G,NC_000023.10:g.148564527	HGMD:CM930422,OMIM Allelic Variant:300823.0013	C0026705 309900 Mucopolysaccharidosis, MPS-II; C0342841 Mucopolysaccharidosis, type II, severe form; CN221809 not provided
NM_000202.7(IDS):c.1403G>C (p.Arg468Pro)	3423	IDS	Pathogenic	113993946	RCV000180472; RCV000078361;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148564527	148564527	NM_000202.7:c.1403G>C	NP_000193.1:p.Arg468Pro		HGMD:CM128959	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.1402C>T (p.Arg468Trp)	3423	IDS	Pathogenic	199422231	RCV000180471; RCV000011243;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:C0342842	X	148564528	148564528	NM_000202.7:c.1402C>T	NP_000193.1:p.Arg468Trp	NC_000023.10:g.148564528G>A	OMIM Allelic Variant:300823.0012	C0026705 309900 Mucopolysaccharidosis, MPS-II; C0342842 Mucopolysaccharidosis, type II, mild form
NM_000202.7(IDS):c.1394A>T (p.Gln465Leu)	3423	IDS	Pathogenic	113993951	RCV000204179;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564536	148564536	NM_000202.7:c.1394A>T	NP_000193.1:p.Gln465Leu	NC_000023.10:g.148564536T>A	-	C0026705 309900 Mucopolysaccharidosis, MPS-II; C0342841 Mucopolysaccharidosis, type II, severe form; CN221809 not provided
NM_000202.7(IDS):c.1393C>T (p.Gln465Ter)	3423	IDS	Pathogenic	864622772	RCV000205510;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564537	148564537	NM_000202.7:c.1393C>T	NP_000193.1:p.Gln465Ter	NC_000023.10:g.148564537G>A	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1327C>T (p.Arg443Ter)	3423	IDS	Pathogenic	199422227	RCV000011232;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564603	148564603	NM_000202.7:c.1327C>T	NP_000193.1:p.Arg443Ter	NC_000023.10:g.148564603G>A	OMIM Allelic Variant:300823.0001	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1264T>G (p.Cys422Gly)	3423	IDS	Pathogenic	199422229	RCV000011239;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564666	148564666	NM_000202.7:c.1264T>G	NP_000193.1:p.Cys422Gly	NC_000023.10:g.148564666A>C	OMIM Allelic Variant:300823.0008	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1181-1G>A	3423	IDS	Pathogenic	864622777	RCV000204452;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148564750	148564750	NM_000202.7:c.1181-1G>A		NC_000023.10:g.148564750C>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1148delC (p.Pro383Leufs)	3423	IDS	Pathogenic	797044502	RCV000180106; RCV000153374;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148568488	148568488	NM_000202.7:c.1148delC	NP_000193.1:p.Pro383Leufs		HGMD:CD991761	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.1132_1133delTT (p.Phe378Profs)	3423	IDS	Pathogenic	869025306	RCV000207401;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148568503	148568504	NM_000202.7:c.1132_1133delTT	NP_000193.1:p.Phe378Profs	NC_000023.10:g.148568503_148568504delAA	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1122C>T (p.Gly374=)	3423	IDS	Pathogenic	113993948	RCV000011237;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148568514	148568514	NM_000202.7:c.1122C>T	NP_000193.1:p.Gly374=	NC_000023.10:g.148568514G>A	OMIM Allelic Variant:300823.0006	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1033T>A (p.Trp345Arg)	3423	IDS	Pathogenic	193302906	RCV000204392;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148568603	148568603	NM_000202.7:c.1033T>A	NP_000193.1:p.Trp345Arg	NC_000023.10:g.148568603A>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1025A>C (p.His342Pro)	3423	IDS	Likely pathogenic	869025303	RCV000207405;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148568611	148568611	NM_000202.7:c.1025A>C	NP_000193.1:p.His342Pro	NC_000023.10:g.148568611T>G	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1016T>C (p.Leu339Pro)	3423	IDS	Pathogenic	864622771	RCV000206113;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148568620	148568620	NM_000202.7:c.1016T>C	NP_000193.1:p.Leu339Pro	NC_000023.10:g.148568620A>G	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1007-8T>G	3423	IDS	Pathogenic	797044782	RCV000180107;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148568637	148568637	NM_000202.7:c.1007-8T>G		NC_000023.10:g.148568637A>C	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1006+1G>T	3423	IDS	Pathogenic	869025308	RCV000207409;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148571844	148571844	NM_000202.7:c.1006+1G>T		NC_000023.10:g.148571844C>A	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.1003C>T (p.His335Tyr)	3423	IDS	Likely pathogenic	869025302	RCV000207368;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148571848	148571848	NM_000202.7:c.1003C>T	NP_000193.1:p.His335Tyr	NC_000023.10:g.148571848G>A	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.998C>T (p.Ser333Leu)	3423	IDS	Pathogenic	104894853	RCV000011233; RCV000078369;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148571853	148571853	NM_000202.7:c.998C>T	NP_000193.1:p.Ser333Leu	NC_000023.10:g.148571853G>A	HGMD:CM920367,OMIM Allelic Variant:300823.0002	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.935G>A (p.Gly312Asp)	3423	IDS	Pathogenic	193302912	RCV000205196;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148571916	148571916	NM_000202.7:c.935G>A	NP_000193.1:p.Gly312Asp	NC_000023.10:g.148571916C>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.908_909delCT (p.Ser303Cysfs)	3423	IDS	Pathogenic	193302913	RCV000205483;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148571942	148571943	NM_000202.7:c.908_909delCT	NP_000193.1:p.Ser303Cysfs	NC_000023.10:g.148571942_148571943delAG	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.884A>T (p.Lys295Ile)	3423	IDS	Pathogenic	113993953	RCV000203709;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148571967	148571967	NM_000202.7:c.884A>T	NP_000193.1:p.Lys295Ile	NC_000023.10:g.148571967T>A	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.832_833insATGTTTAAGGGAAG (p.Ala278Aspfs)	3423	IDS	Pathogenic	797044770	RCV000179274;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148577923	148577924	NM_000202.7:c.832_833insATGTTTAAGGGAAG	NP_000193.1:p.Ala278Aspfs	NC_000023.10:g.148577923_148577924insCTTCCCTTAAACAT	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.820G>T (p.Glu274Ter)	3423	IDS	Pathogenic	193302907	RCV000204905;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148577936	148577936	NM_000202.7:c.820G>T	NP_000193.1:p.Glu274Ter	NC_000023.10:g.148577936C>A	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.754_767delGATCCCGAGGTCCC (p.Asp252Terfs)	3423	IDS	Pathogenic	869025305	RCV000207366;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148577989	148578002	NM_000202.7:c.754_767delGATCCCGAGGTCCC	NP_000193.1:p.Asp252Terfs	NC_000023.10:g.148577989_148578002delGGGACCTCGGGATC	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.708+1G>A	3423	IDS	Pathogenic	864622778	RCV000204551;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579637	148579637	NM_000202.7:c.708+1G>A		NC_000023.10:g.148579637C>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.690_691insT (p.Pro231Serfs)	3423	IDS	Pathogenic	797044750	RCV000178732;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579655	148579656	NM_000202.7:c.690_691insT	NP_000193.1:p.Pro231Serfs	NC_000023.10:g.148579655_148579656insA	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.683C>A (p.Pro228Gln)	3423	IDS	Pathogenic	113993945	RCV000205838;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579663	148579663	NM_000202.7:c.683C>A	NP_000193.1:p.Pro228Gln	NC_000023.10:g.148579663G>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.641C>T (p.Thr214Met)	3423	IDS	Benign;Pathogenic	61736892	RCV000205107; RCV000078368;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN169374	X	148579705	148579705	NM_000202.7:c.641C>T	NP_000193.1:p.Thr214Met		-	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN169374 not specified
NM_000202.7(IDS):c.613G>C (p.Ala205Pro)	3423	IDS	Pathogenic	864622779	RCV000204533;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579733	148579733	NM_000202.7:c.613G>C	NP_000193.1:p.Ala205Pro	NC_000023.10:g.148579733C>G	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.597delA (p.Lys199Asnfs)	3423	IDS	Pathogenic	398123251	RCV000178731; RCV000078367;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148579749	148579749	NM_000202.7:c.597delA	NP_000193.1:p.Lys199Asnfs		-	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.592G>A (p.Asp198Asn)	3423	IDS	Pathogenic	193302904	RCV000204006;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579754	148579754	NM_000202.7:c.592G>A	NP_000193.1:p.Asp198Asn	NC_000023.10:g.148579754C>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.587T>C (p.Leu196Ser)	3423	IDS	Pathogenic	398123250	RCV000178730; RCV000078366;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148579759	148579759	NM_000202.7:c.587T>C	NP_000193.1:p.Leu196Ser		HGMD:CM981029	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.514C>T (p.Arg172Ter)	3423	IDS	Pathogenic	104894860	RCV000011236;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579832	148579832	NM_000202.7:c.514C>T	NP_000193.1:p.Arg172Ter	NC_000023.10:g.148579832G>A	OMIM Allelic Variant:300823.0005	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.509_510delCA (p.Thr170Metfs)	3423	IDS	Pathogenic	483352904	RCV000011242;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579836	148579837	NM_000202.7:c.509_510delCA	NP_000193.1:p.Thr170Metfs	NC_000023.10:g.148579836_148579837delTG	OMIM Allelic Variant:300823.0011	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.508-1G>A	3423	IDS	Pathogenic	113993947	RCV000206667;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579839	148579839	NM_000202.7:c.508-1G>A		NC_000023.10:g.148579839C>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.508-1G>C	3423	IDS	Pathogenic	113993947	RCV000207376;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148579839	148579839	NM_000202.7:c.508-1G>C			-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.479C>G (p.Pro160Arg)	3423	IDS	Pathogenic	104894856	RCV000011235;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148582508	148582508	NM_000202.7:c.479C>G	NP_000193.1:p.Pro160Arg	NC_000023.10:g.148582508G>C	OMIM Allelic Variant:300823.0004	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.469C>T (p.Pro157Ser)	3423	IDS	Pathogenic	864622774	RCV000205861;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148582518	148582518	NM_000202.7:c.469C>T	NP_000193.1:p.Pro157Ser	NC_000023.10:g.148582518G>A	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.463_464delTTinsCCGTATAGCTGG (p.Phe155Profs)	3423	IDS	Pathogenic	869025304	RCV000207427;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148582523	148582524	NM_000202.7:c.463_464delTTinsCCGTATAGCTGG	NP_000193.1:p.Phe155Profs	NC_000023.10:g.148582523_148582524delAAinsCCAGCTATACGG	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.438C>T (p.Thr146=)	3423	IDS	Benign	1141608	RCV000206047; RCV000078365;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN169374	X	148582549	148582549	NM_000202.7:c.438C>T	NP_000193.1:p.Thr146=		-	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN169374 not specified
NM_000202.7(IDS):c.425C>A (p.Ser142Tyr)	3423	IDS	Pathogenic	193302908	RCV000204759;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148582562	148582562	NM_000202.7:c.425C>A	NP_000193.1:p.Ser142Tyr	NC_000023.10:g.148582562G>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.411delT (p.His138Thrfs)	3423	IDS	Pathogenic	864622776	RCV000204366;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148584849	148584849	NM_000202.7:c.411delT	NP_000193.1:p.His138Thrfs	NC_000023.10:g.148584849delA	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.404A>G (p.Lys135Arg)	3423	IDS	Pathogenic	104894861	RCV000011240;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148584856	148584856	NM_000202.7:c.404A>G	NP_000193.1:p.Lys135Arg	NC_000023.10:g.148584856T>C	OMIM Allelic Variant:300823.0009	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.401G>A (p.Gly134Glu)	3423	IDS	Pathogenic	193302910	RCV000206848;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148584859	148584859	NM_000202.7:c.401G>A	NP_000193.1:p.Gly134Glu	NC_000023.10:g.148584859C>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.359C>A (p.Pro120His)	3423	IDS	Pathogenic	193302911	RCV000205759;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148584901	148584901	NM_000202.7:c.359C>A	NP_000193.1:p.Pro120His	NC_000023.10:g.148584901G>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.349_351delTCC (p.Ser117del)	3423	IDS	Pathogenic	483352905	RCV000011247;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148584909	148584911	NM_000202.7:c.349_351delTCC	NP_000193.1:p.Ser117del	NC_000023.10:g.148584909_148584911delGGA	OMIM Allelic Variant:300823.0016	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.317_318insTCAA (p.Ser107Glnfs)	3423	IDS	Pathogenic	797044703	RCV000177015;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148584942	148584943	NM_000202.7:c.317_318insTCAA	NP_000193.1:p.Ser107Glnfs	NC_000023.10:g.148584942_148584943insTTGA	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.262C>T (p.Arg88Cys)	3423	IDS	Pathogenic	398123249	RCV000177014; RCV000078364;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148584998	148584998	NM_000202.7:c.262C>T	NP_000193.1:p.Arg88Cys		HGMD:CM950661	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.253G>A (p.Ala85Thr)	3423	IDS	Pathogenic	113993949	RCV000177016; RCV000078363;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148585007	148585007	NM_000202.7:c.253G>A	NP_000193.1:p.Ala85Thr		HGMD:CM960855	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.241-5A>T	3423	IDS	Pathogenic	113993952	RCV000205544;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148585024	148585024	NM_000202.7:c.241-5A>T		NC_000023.10:g.148585024T>A	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.208dupC (p.His70Profs)	3423	IDS	Pathogenic	797044671	RCV000175548;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148585719	148585719	NM_000202.7:c.208dupC	NP_000193.1:p.His70Profs	NC_000023.10:g.148585719dupG	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.191T>A (p.Ile64Asn)	3423	IDS	Pathogenic	781997631	RCV000206626;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148585736	148585736	NM_000202.7:c.191T>A	NP_000193.1:p.Ile64Asn	NC_000023.10:g.148585736A>T	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.181T>C (p.Ser61Pro)	3423	IDS	Pathogenic	113993955	RCV000206790;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148585746	148585746	NM_000202.7:c.181T>C	NP_000193.1:p.Ser61Pro	NC_000023.10:g.148585746A>G	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.133G>C (p.Asp45His)	3423	IDS	Likely pathogenic	869025301	RCV000207419;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148585794	148585794	NM_000202.7:c.133G>C	NP_000193.1:p.Asp45His	NC_000023.10:g.148585794C>G	-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.103+1G>C	3423	IDS	Pathogenic	398123247	RCV000173081; RCV000078359;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009; MedGen:CN221809	X	148586564	148586564	NM_000202.7:c.103+1G>C			-	C0026705 309900 Mucopolysaccharidosis, MPS-II; CN221809 not provided
NM_000202.7(IDS):c.-217_103del320	3423	IDS	Pathogenic	-1	RCV000207434;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148586565	148586884	NM_000202.7:c.-217_103del320			-	C0026705 309900 Mucopolysaccharidosis, MPS-II
NM_000202.7(IDS):c.22_37del16 (p.Arg8Trpfs)	3423	IDS	Pathogenic	864622775	RCV000206485;	N	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	X	148586631	148586646	NM_000202.7:c.22_37del16	NP_000193.1:p.Arg8Trpfs	NC_000023.10:g.148586631_148586646del16	-	C0026705 309900 Mucopolysaccharidosis, MPS-II