IDS (iduronate 2-sulfatase) - Rat Genome Database

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Gene: IDS (iduronate 2-sulfatase) Homo sapiens
Analyze
Symbol: IDS
Name: iduronate 2-sulfatase
RGD ID: 1351665
HGNC Page HGNC
Description: Exhibits calcium ion binding activity and iduronate-2-sulfatase activity. Involved in glycosaminoglycan catabolic process. Localizes to lysosome. Implicated in mucopolysaccharidosis II.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-L-iduronate sulfate sulfatase; ID2S; iduronate 2-sulfatase 14 kDa chain; iduronate 2-sulfatase 42 kDa chain; idursulfase; MPS2; SIDS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: IDSP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX149,476,988 - 149,521,096 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX149,477,104 - 149,540,926 (-)EnsemblGRCh38hg38GRCh38
GRCh38X149,476,988 - 149,505,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X148,558,519 - 148,586,836 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X148,368,206 - 148,394,698 (-)NCBINCBI36hg18NCBI36
Build 34X148,274,422 - 148,292,552NCBI
CeleraX148,909,049 - 148,935,639 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX137,513,419 - 137,540,564 (-)NCBIHuRef
CHM1_1X148,519,548 - 148,547,912 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal enzyme/coenzyme activity  (IAGP)
Abnormal foveal morphology  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal mitral valve morphology  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal tricuspid valve morphology  (IAGP)
Abnormal uvea morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Arrhythmia  (IAGP)
Arthritis  (IAGP)
Asthma  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiomyopathy  (IAGP)
Cervical cord compression  (IAGP)
Chronic diarrhea  (IAGP)
Coarse facial features  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Constrictive median neuropathy  (IAGP)
Corneal opacity  (IAGP)
Decreased light- and dark-adapted electroretinogram amplitude  (IAGP)
Delayed eruption of teeth  (IAGP)
Dermatan sulfate excretion in urine  (IAGP)
Developmental regression  (IAGP)
Diaphyseal thickening  (IAGP)
Diarrhea  (IAGP)
Dolichocephaly  (IAGP)
Dysostosis multiplex  (IAGP)
Enlarged tonsils  (IAGP)
Flexion contracture  (IAGP)
Full cheeks  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Heart murmur  (IAGP)
Heparan sulfate excretion in urine  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hip dysplasia  (IAGP)
Hoarse voice  (IAGP)
Hydrocephalus  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Impaired mastication  (IAGP)
Increased size of nasopharyngeal adenoids  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability, profound  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Kyphosis  (IAGP)
Limitation of joint mobility  (IAGP)
Localized skin lesion  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Mental deterioration  (IAGP)
Mild short stature  (IAGP)
Muscle weakness  (IAGP)
Neurodegeneration  (IAGP)
Nyctalopia  (IAGP)
Obstructive sleep apnea  (IAGP)
Optic atrophy  (IAGP)
Otosclerosis  (IAGP)
Papilledema  (IAGP)
Peripheral arterial stenosis  (IAGP)
Peripheral visual field loss  (IAGP)
Pes cavus  (IAGP)
Prominent supraorbital ridges  (IAGP)
Ptosis  (IAGP)
Recurrent ear infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinopathy  (IAGP)
Scaphocephaly  (IAGP)
Schizophrenia  (IAGP)
Scleral thickening  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Sleep apnea  (IAGP)
Spinal canal stenosis  (IAGP)
Spinal cord compression  (IAGP)
Splenomegaly  (IAGP)
Split hand  (IAGP)
Temporomandibular joint ankylosis  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Thickened ribs  (IAGP)
Tracheobronchomalacia  (IAGP)
Umbilical hernia  (IAGP)
Upper airway obstruction  (IAGP)
Urinary glycosaminoglycan excretion  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
Widely spaced teeth  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1284597   PMID:1303211   PMID:1355630   PMID:1639384   PMID:1901826   PMID:1906048   PMID:2122463   PMID:2222422   PMID:3104200   PMID:6418082   PMID:7581397   PMID:7599640  
PMID:7728156   PMID:7866405   PMID:7887413   PMID:7981716   PMID:8111411   PMID:8244397   PMID:8281149   PMID:8318991   PMID:8364592   PMID:8490623   PMID:8528670   PMID:8530090  
PMID:8566953   PMID:8664909   PMID:8717057   PMID:8830188   PMID:8940265   PMID:9147653   PMID:9222763   PMID:9266380   PMID:9337875   PMID:9375851   PMID:9501270   PMID:9660053  
PMID:9762601   PMID:9875019   PMID:9921913   PMID:9950361   PMID:10215411   PMID:10220152   PMID:10447264   PMID:10671065   PMID:10737977   PMID:10838181   PMID:11015461   PMID:11256614  
PMID:11462244   PMID:11683780   PMID:11731225   PMID:12477932   PMID:12655569   PMID:12794697   PMID:14702039   PMID:15146197   PMID:15146464   PMID:15500445   PMID:15614569   PMID:15772651  
PMID:15909065   PMID:16133661   PMID:16344560   PMID:16480701   PMID:16617305   PMID:16699754   PMID:16735228   PMID:17063374   PMID:17091340   PMID:17284421   PMID:17616540   PMID:17655837  
PMID:17657858   PMID:18500569   PMID:18546295   PMID:19602578   PMID:19913121   PMID:19933090   PMID:20104590   PMID:20125193   PMID:20301451   PMID:20628086   PMID:21062272   PMID:21108396  
PMID:21593745   PMID:21873635   PMID:22286622   PMID:22492741   PMID:22622771   PMID:22976768   PMID:22990955   PMID:23867855   PMID:24125893   PMID:24780617   PMID:25038527   PMID:26186194  
PMID:26762690   PMID:27246110   PMID:28186595   PMID:28298427   PMID:28514442   PMID:28543354   PMID:28593992   PMID:30639582   PMID:31029429   PMID:32070051  


Genomics

Comparative Map Data
IDS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX149,476,988 - 149,521,096 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX149,477,104 - 149,540,926 (-)EnsemblGRCh38hg38GRCh38
GRCh38X149,476,988 - 149,505,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X148,558,519 - 148,586,836 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X148,368,206 - 148,394,698 (-)NCBINCBI36hg18NCBI36
Build 34X148,274,422 - 148,292,552NCBI
CeleraX148,909,049 - 148,935,639 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX137,513,419 - 137,540,564 (-)NCBIHuRef
CHM1_1X148,519,548 - 148,547,912 (-)NCBICHM1_1
Ids
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X69,386,675 - 69,429,440 (-)NCBIGRCm39mm39
GRCm39 EnsemblX69,386,675 - 69,408,690 (-)Ensembl
GRCm38X70,343,069 - 70,385,834 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX70,343,069 - 70,365,084 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X67,596,244 - 67,618,260 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X66,603,734 - 66,625,640 (-)NCBImm8
CeleraX61,343,214 - 61,364,574 (-)NCBICelera
Cytogenetic MapXA7.2NCBI
cM MapX36.01NCBI
Ids
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X149,025,977 - 149,046,639 (-)NCBI
Rnor_6.0 Ensembl869,449,801 - 69,466,618 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0869,447,971 - 69,466,708 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0869,156,152 - 69,176,554 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X156,641,266 - 156,661,031 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1132,362,983 - 132,383,553 (+)NCBICelera
Cytogenetic Map8q24NCBI
Ids
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554981,863,002 - 1,886,720 (-)NCBIChiLan1.0ChiLan1.0
IDS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X148,919,692 - 148,946,441 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX148,912,475 - 148,946,441 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X138,493,117 - 138,520,017 (-)NCBIMhudiblu_PPA_v0panPan3
IDS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X117,490,749 - 117,515,566 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX117,491,548 - 117,515,496 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX103,387,036 - 103,407,466 (-)NCBI
ROS_Cfam_1.0X119,549,981 - 119,574,777 (-)NCBI
UMICH_Zoey_3.1X116,666,069 - 116,686,486 (-)NCBI
UNSW_CanFamBas_1.0X118,877,384 - 118,897,818 (-)NCBI
UU_Cfam_GSD_1.0X118,605,631 - 118,626,060 (-)NCBI
Ids
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X115,525,779 - 115,551,763 (-)NCBI
SpeTri2.0NW_00493651362,966 - 88,844 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IDS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X121,572,797 - 121,596,525 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X139,050,899 - 139,063,575 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IDS
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Ids
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248832,031,208 - 2,056,379 (-)NCBI

Position Markers
RH47309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,560,325 - 148,560,445UniSTSGRCh37
Build 36X148,368,231 - 148,368,351RGDNCBI36
CeleraX148,909,079 - 148,909,199RGD
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH MapX343.52UniSTS
NCBI RH MapX733.4UniSTS
RH47302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,560,325 - 148,560,469UniSTSGRCh37
Build 36X148,368,231 - 148,368,375RGDNCBI36
CeleraX148,909,079 - 148,909,223RGD
Cytogenetic MapXq28UniSTS
HuRefX137,513,449 - 137,513,593UniSTS
GeneMap99-GB4 RH MapX343.52UniSTS
NCBI RH MapX733.4UniSTS
DXS9739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,564,114 - 148,564,231UniSTSGRCh37
Build 36X148,372,019 - 148,372,136RGDNCBI36
CeleraX148,912,868 - 148,912,985RGD
Cytogenetic MapXq28UniSTS
HuRefX137,517,238 - 137,517,355UniSTS
TNG Radiation Hybrid MapX31641.0UniSTS
GeneMap99-G3 RH MapX4406.0UniSTS
DXS6981E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,562,297 - 148,562,387UniSTSGRCh37
Build 36X148,370,202 - 148,370,292RGDNCBI36
CeleraX148,911,051 - 148,911,141RGD
Cytogenetic MapXq28UniSTS
HuRefX137,515,421 - 137,515,511UniSTS
GDB:511278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,584,793 - 148,585,058UniSTSGRCh37
GRCh37X148,607,244 - 148,607,509UniSTSGRCh37
Build 36X148,392,698 - 148,392,963RGDNCBI36
CeleraX148,933,547 - 148,933,812RGD
Cytogenetic MapXq28UniSTS
Cytogenetic MapXq27.3-q28UniSTS
HuRefX137,560,474 - 137,560,739UniSTS
GDB:568794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,568,511 - 148,568,619UniSTSGRCh37
Build 36X148,376,416 - 148,376,524RGDNCBI36
CeleraX148,917,265 - 148,917,373RGD
Cytogenetic MapXq28UniSTS
HuRefX137,521,635 - 137,521,743UniSTS
GDB:568797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,563,928 - 148,564,798UniSTSGRCh37
Build 36X148,371,833 - 148,372,703RGDNCBI36
CeleraX148,912,682 - 148,913,552RGD
Cytogenetic MapXq28UniSTS
HuRefX137,517,052 - 137,517,922UniSTS
GDB:629946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,564,241 - 148,564,693UniSTSGRCh37
Build 36X148,372,146 - 148,372,598RGDNCBI36
CeleraX148,912,995 - 148,913,447RGD
Cytogenetic MapXq28UniSTS
HuRefX137,517,365 - 137,517,817UniSTS
GDB:629963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,586,530 - 148,586,712UniSTSGRCh37
Build 36X148,394,434 - 148,394,616RGDNCBI36
CeleraX148,935,284 - 148,935,466RGD
Cytogenetic MapXq28UniSTS
HuRefX137,540,210 - 137,540,392UniSTS
GDB:629977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,585,655 - 148,585,863UniSTSGRCh37
Build 36X148,393,559 - 148,393,767RGDNCBI36
CeleraX148,934,409 - 148,934,617RGD
Cytogenetic MapXq28UniSTS
GDB:629998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,584,806 - 148,585,060UniSTSGRCh37
GRCh37X148,607,242 - 148,607,496UniSTSGRCh37
Build 36X148,392,711 - 148,392,965RGDNCBI36
CeleraX148,933,560 - 148,933,814RGD
Cytogenetic MapXq28UniSTS
Cytogenetic MapXq27.3-q28UniSTS
HuRefX137,560,472 - 137,560,726UniSTS
GDB:630007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,577,845 - 148,578,091UniSTSGRCh37
Build 36X148,385,750 - 148,385,996RGDNCBI36
CeleraX148,926,599 - 148,926,845RGD
Cytogenetic MapXq28UniSTS
HuRefX137,531,158 - 137,531,404UniSTS
GDB:630010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,571,811 - 148,572,017UniSTSGRCh37
Build 36X148,379,716 - 148,379,922RGDNCBI36
CeleraX148,920,565 - 148,920,771RGD
Cytogenetic MapXq28UniSTS
HuRefX137,525,124 - 137,525,330UniSTS
GDB:631496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,568,417 - 148,568,686UniSTSGRCh37
Build 36X148,376,322 - 148,376,591RGDNCBI36
CeleraX148,917,171 - 148,917,440RGD
Cytogenetic MapXq28UniSTS
HuRefX137,521,541 - 137,521,810UniSTS
GDB:631572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,564,241 - 148,564,789UniSTSGRCh37
Build 36X148,372,146 - 148,372,694RGDNCBI36
CeleraX148,912,995 - 148,913,543RGD
Cytogenetic MapXq28UniSTS
HuRefX137,517,365 - 137,517,913UniSTS
GDB:631575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,564,449 - 148,564,789UniSTSGRCh37
Build 36X148,372,354 - 148,372,694RGDNCBI36
CeleraX148,913,203 - 148,913,543RGD
Cytogenetic MapXq28UniSTS
HuRefX137,517,573 - 137,517,913UniSTS
GDB:631578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,564,241 - 148,564,508UniSTSGRCh37
Build 36X148,372,146 - 148,372,413RGDNCBI36
CeleraX148,912,995 - 148,913,262RGD
Cytogenetic MapXq28UniSTS
HuRefX137,517,365 - 137,517,632UniSTS
SHGC-132567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,560,938 - 148,561,132UniSTSGRCh37
Build 36X148,368,843 - 148,369,037RGDNCBI36
CeleraX148,909,692 - 148,909,886RGD
Cytogenetic MapXq28UniSTS
HuRefX137,514,062 - 137,514,256UniSTS
TNG Radiation Hybrid MapX31631.0UniSTS
PMC24149P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,586,654 - 148,586,784UniSTSGRCh37
Build 36X148,394,558 - 148,394,688RGDNCBI36
CeleraX148,935,408 - 148,935,538RGD
Cytogenetic MapXq28UniSTS
HuRefX137,540,334 - 137,540,464UniSTS
STS-M58342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,564,129 - 148,564,256UniSTSGRCh37
Build 36X148,372,034 - 148,372,161RGDNCBI36
CeleraX148,912,883 - 148,913,010RGD
Cytogenetic MapXq28UniSTS
HuRefX137,517,253 - 137,517,380UniSTS
GeneMap99-GB4 RH MapX342.72UniSTS
NCBI RH MapX724.7UniSTS
STS-R15451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,561,101 - 148,561,368UniSTSGRCh37
Build 36X148,369,006 - 148,369,273RGDNCBI36
CeleraX148,909,855 - 148,910,122RGD
Cytogenetic MapXq28UniSTS
HuRefX137,514,225 - 137,514,492UniSTS
GeneMap99-GB4 RH MapX342.72UniSTS
RH67788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,560,324 - 148,560,498UniSTSGRCh37
Build 36X148,368,230 - 148,368,404RGDNCBI36
CeleraX148,909,078 - 148,909,252RGD
Cytogenetic MapXq28UniSTS
HuRefX137,513,448 - 137,513,622UniSTS
GeneMap99-GB4 RH MapX342.72UniSTS
NCBI RH MapX724.7UniSTS
G27404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,560,330 - 148,560,449UniSTSGRCh37
Build 36X148,368,236 - 148,368,355RGDNCBI36
CeleraX148,909,084 - 148,909,203RGD
Cytogenetic MapXq28UniSTS
HuRefX137,513,454 - 137,513,573UniSTS
RH69756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,562,484 - 148,562,616UniSTSGRCh37
Build 36X148,370,389 - 148,370,521RGDNCBI36
CeleraX148,911,238 - 148,911,370RGD
Cytogenetic MapXq28UniSTS
HuRefX137,515,608 - 137,515,740UniSTS
GeneMap99-GB4 RH MapX344.13UniSTS
SHGC-36026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,561,101 - 148,561,212UniSTSGRCh37
Build 36X148,369,006 - 148,369,117RGDNCBI36
CeleraX148,909,855 - 148,909,966RGD
Cytogenetic MapXq28UniSTS
HuRefX137,514,225 - 137,514,336UniSTS
Stanford-G3 RH MapX4250.0UniSTS
GeneMap99-G3 RH MapX4396.0UniSTS
RH78585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,561,554 - 148,561,676UniSTSGRCh37
Build 36X148,369,459 - 148,369,581RGDNCBI36
CeleraX148,910,308 - 148,910,430RGD
Cytogenetic MapXq28UniSTS
HuRefX137,514,678 - 137,514,800UniSTS
GeneMap99-GB4 RH MapX343.52UniSTS
NCBI RH MapX733.4UniSTS
DXS7018E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,560,950 - 148,561,030UniSTSGRCh37
Build 36X148,368,855 - 148,368,935RGDNCBI36
CeleraX148,909,704 - 148,909,784RGD
Cytogenetic MapXq28UniSTS
HuRefX137,514,074 - 137,514,154UniSTS
GeneMap99-GB4 RH MapX343.52UniSTS
NCBI RH MapX733.4UniSTS
PMC311008P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,584,861 - 148,585,739UniSTSGRCh37
GRCh37X148,606,563 - 148,607,441UniSTSGRCh37
Build 36X148,392,766 - 148,393,643RGDNCBI36
CeleraX148,933,615 - 148,934,493RGD
Cytogenetic MapXq28UniSTS
Cytogenetic MapXq27.3-q28UniSTS
HuRefX137,559,793 - 137,560,671UniSTS
IDS__6440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,563,567 - 148,564,484UniSTSGRCh37
Build 36X148,371,472 - 148,372,389RGDNCBI36
CeleraX148,912,321 - 148,913,238RGD
HuRefX137,516,691 - 137,517,608UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
GDB:629871  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:629939  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GDB:629943  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR181A2hsa-miR-181a-5pTarbaseexternal_infoMicroarrayPOSITIVE
MIR181A1hsa-miR-181a-5pTarbaseexternal_infoMicroarrayPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:8810
Count of miRNA genes:1603
Interacting mature miRNAs:2253
Transcripts:ENST00000340855, ENST00000370441, ENST00000370443, ENST00000412882, ENST00000422081, ENST00000427113, ENST00000428056, ENST00000431025, ENST00000437981, ENST00000441880, ENST00000464251, ENST00000466019, ENST00000466323, ENST00000490775, ENST00000521702, ENST00000523759, ENST00000537071, ENST00000541269
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4
Medium 2335 2842 1372 278 1876 121 4151 1916 3727 372 1291 1596 173 1 1201 2624 2
Low 245 175 529 469 518 471 338 338 132 222 405 317 10 3 166 6 2
Below cutoff 74 7 109 93 282 93 166 9 33 122 95 75 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC233288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF011889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF050145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH000819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI242974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY996633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK004173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN303532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA325538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA351886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB500211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF363095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC013507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT724868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY561588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY561589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M58342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF431729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R46390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340855   ⟹   ENSP00000339801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,476,988 - 149,505,306 (-)Ensembl
RefSeq Acc Id: ENST00000370441   ⟹   ENSP00000359470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,487,131 - 149,505,347 (-)Ensembl
RefSeq Acc Id: ENST00000422081   ⟹   ENSP00000477056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,482,543 - 149,533,935 (-)Ensembl
RefSeq Acc Id: ENST00000427113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,502,087 - 149,532,968 (-)Ensembl
RefSeq Acc Id: ENST00000428056   ⟹   ENSP00000390241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,502,660 - 149,505,280 (-)Ensembl
RefSeq Acc Id: ENST00000441880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,483,090 - 149,532,994 (-)Ensembl
RefSeq Acc Id: ENST00000464251   ⟹   ENSP00000428980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,487,287 - 149,504,219 (-)Ensembl
RefSeq Acc Id: ENST00000466019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,495,483 - 149,498,266 (-)Ensembl
RefSeq Acc Id: ENST00000466323   ⟹   ENSP00000418264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,487,131 - 149,505,347 (-)Ensembl
RefSeq Acc Id: ENST00000490775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,487,160 - 149,503,388 (-)Ensembl
RefSeq Acc Id: ENST00000521702   ⟹   ENSP00000429745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,503,471 - 149,521,096 (-)Ensembl
RefSeq Acc Id: ENST00000651111   ⟹   ENSP00000498395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,477,104 - 149,540,926 (-)Ensembl
RefSeq Acc Id: NM_000202   ⟹   NP_000193
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,476,988 - 149,505,306 (-)NCBI
GRCh37X148,560,295 - 148,586,884 (-)ENTREZGENE
Build 36X148,368,206 - 148,394,698 (-)NCBI Archive
HuRefX137,513,419 - 137,540,564 (-)ENTREZGENE
CHM1_1X148,519,548 - 148,547,912 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166550   ⟹   NP_001160022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,476,988 - 149,505,306 (-)NCBI
GRCh37X148,560,295 - 148,586,884 (-)ENTREZGENE
HuRefX137,513,419 - 137,540,564 (-)ENTREZGENE
CHM1_1X148,519,548 - 148,547,912 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006123   ⟹   NP_006114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,487,131 - 149,505,306 (-)NCBI
GRCh37X148,560,295 - 148,586,884 (-)ENTREZGENE
Build 36X148,376,569 - 148,394,698 (-)NCBI Archive
HuRefX137,513,419 - 137,540,564 (-)ENTREZGENE
CHM1_1X148,529,689 - 148,547,912 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104128
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,487,131 - 149,505,306 (-)NCBI
HuRefX137,513,419 - 137,540,564 (-)NCBI
CHM1_1X148,529,689 - 148,547,912 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001160022   ⟸   NM_001166550
- Peptide Label: isoform c
- UniProtKB: P22304 (UniProtKB/Swiss-Prot),   B4DGD7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000193   ⟸   NM_000202
- Peptide Label: isoform a preproprotein
- UniProtKB: P22304 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006114   ⟸   NM_006123
- Peptide Label: isoform b precursor
- UniProtKB: P22304 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359470   ⟸   ENST00000370441
RefSeq Acc Id: ENSP00000428980   ⟸   ENST00000464251
RefSeq Acc Id: ENSP00000418264   ⟸   ENST00000466323
RefSeq Acc Id: ENSP00000390241   ⟸   ENST00000428056
RefSeq Acc Id: ENSP00000498395   ⟸   ENST00000651111
RefSeq Acc Id: ENSP00000429745   ⟸   ENST00000521702
RefSeq Acc Id: ENSP00000339801   ⟸   ENST00000340855
RefSeq Acc Id: ENSP00000477056   ⟸   ENST00000422081
Protein Domains
Sulfatase

Promoters
RGD ID:6813806
Promoter ID:HG_ACW:85084
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:IDS.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X148,390,761 - 148,391,261 (-)MPROMDB
RGD ID:6808944
Promoter ID:HG_KWN:68364
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:OTTHUMT00000058682
Position:
Human AssemblyChrPosition (strand)Source
Build 36X148,393,484 - 148,393,984 (-)MPROMDB
RGD ID:6808941
Promoter ID:HG_KWN:68365
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000058681
Position:
Human AssemblyChrPosition (strand)Source
Build 36X148,393,681 - 148,394,181 (-)MPROMDB
RGD ID:6808948
Promoter ID:HG_KWN:68366
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370443,   NM_001166550,   OTTHUMT00000058677,   OTTHUMT00000058679,   OTTHUMT00000058680,   UC004FCV.2,   UC004FCY.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X148,394,466 - 148,394,966 (-)MPROMDB
RGD ID:13628302
Promoter ID:EPDNEW_H29426
Type:initiation region
Name:IDS_2
Description:iduronate 2-sulfatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29427  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,482,635 - 149,482,695EPDNEW
RGD ID:13628304
Promoter ID:EPDNEW_H29427
Type:initiation region
Name:IDS_1
Description:iduronate 2-sulfatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29426  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,505,306 - 149,505,366EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000548295] ChrX:149490314 [GRCh38]
ChrX:148571845 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291014] ChrX:149487071 [GRCh38]
ChrX:148568602 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del) deletion Mucopolysaccharidosis, MPS-II [RCV001291026] ChrX:149482962..149482973 [GRCh38]
ChrX:148564493..148564504 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291027] ChrX:149482957..149482961 [GRCh38]
ChrX:148564488..148564492 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.104-1_104delinsT indel Mucopolysaccharidosis, MPS-II [RCV001291029] ChrX:149504293..149504294 [GRCh38]
ChrX:148585823..148585824 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1006+2T>G single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291032] ChrX:149490312 [GRCh38]
ChrX:148571843 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000542235] ChrX:149496498 [GRCh38]
ChrX:148578029 [GRCh37]
ChrX:Xq28
benign
NC_000023.11:g.(?_149478764)_(149505354_?)del deletion Mucopolysaccharidosis, MPS-II [RCV000011238] ChrX:149478764..149505354 [GRCh38]
ChrX:Xq28
pathogenic
IDS, 78-BP INS insertion Mucopolysaccharidosis, type II, mild form [RCV000011245] ChrX:Xq28 pathogenic
NM_000202.8(IDS):c.1265G>T (p.Cys422Phe) single nucleotide variant not provided [RCV000727561] ChrX:149483134 [GRCh38]
ChrX:148564665 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.283A>T (p.Arg95Trp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001290995] ChrX:149503447 [GRCh38]
ChrX:148584977 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.305del (p.Leu102fs) deletion Mucopolysaccharidosis, MPS-II [RCV001290997] ChrX:149503425 [GRCh38]
ChrX:148584955 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.687del (p.His229fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291003] ChrX:149498128 [GRCh38]
ChrX:148579659 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.103G>C (p.Asp35His) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001290989] ChrX:149505035 [GRCh38]
ChrX:148586565 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001290999] ChrX:149498303 [GRCh38]
ChrX:148579834 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011232] ChrX:149483072 [GRCh38]
ChrX:148564603 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011233]|not provided [RCV000790725] ChrX:149490322 [GRCh38]
ChrX:148571853 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011234] ChrX:149482894 [GRCh38]
ChrX:148564425 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011235] ChrX:149500977 [GRCh38]
ChrX:148582508 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011236] ChrX:149498301 [GRCh38]
ChrX:148579832 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1122C>T (p.Gly374=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011237] ChrX:149486983 [GRCh38]
ChrX:148568514 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011239] ChrX:149483135 [GRCh38]
ChrX:148564666 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011240] ChrX:149503326 [GRCh38]
ChrX:148584856 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011241] ChrX:149482974 [GRCh38]
ChrX:148564505 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.509_510del (p.Thr170fs) deletion Mucopolysaccharidosis, MPS-II [RCV000011242] ChrX:149498305..149498306 [GRCh38]
ChrX:148579836..148579837 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000180471]|Mucopolysaccharidosis, type II, mild form [RCV000011243]|not provided [RCV000723439] ChrX:149482997 [GRCh38]
ChrX:148564528 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000180473]|Mucopolysaccharidosis, type II, severe form [RCV000011244]|not provided [RCV000790797] ChrX:149482996 [GRCh38]
ChrX:148564527 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu) single nucleotide variant Mucopolysaccharidosis, type II, severe form [RCV000011246] ChrX:149482996 [GRCh38]
ChrX:148564527 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.349_351del (p.Ser117del) deletion Mucopolysaccharidosis, MPS-II [RCV000011247] ChrX:149503379..149503381 [GRCh38]
ChrX:148584909..148584911 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000202.8(IDS):c.688A>T (p.Ile230Phe) single nucleotide variant not provided [RCV000520378] ChrX:149498127 [GRCh38]
ChrX:148579658 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq27.3-28(chrX:146896288-149621145)x1 copy number loss See cases [RCV000050631] ChrX:146896288..149621145 [GRCh38]
ChrX:145785498..148510629 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:149493233-149500929)x1 copy number loss See cases [RCV000051429] ChrX:149493233..149500929 [GRCh38]
ChrX:148382669..148390365 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1 copy number loss See cases [RCV000051748] ChrX:147151996..150364798 [GRCh38]
ChrX:146041206..149283723 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:149429424-149617725)x0 copy number loss See cases [RCV000051749] ChrX:149429424..149617725 [GRCh38]
ChrX:148318877..148507209 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149352525-149532248)x3 copy number gain See cases [RCV000054284] ChrX:149352525..149532248 [GRCh38]
ChrX:148241776..148421672 [NCBI36]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.103+1G>C single nucleotide variant not provided [RCV000173081] ChrX:149505034 [GRCh38]
ChrX:148586564 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro) single nucleotide variant not provided [RCV000180472] ChrX:149482996 [GRCh38]
ChrX:148564527 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) single nucleotide variant not provided [RCV000180470] ChrX:149482891 [GRCh38]
ChrX:148564422 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000177016]|not provided [RCV000790731] ChrX:149503477 [GRCh38]
ChrX:148585007 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000177014]|not provided [RCV000790676] ChrX:149503468 [GRCh38]
ChrX:148584998 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.438C>T (p.Thr146=) single nucleotide variant History of neurodevelopmental disorder [RCV000715264]|Mucopolysaccharidosis, MPS-II [RCV000206047]|not provided [RCV000589894]|not specified [RCV000078365] ChrX:149501018 [GRCh38]
ChrX:148582549 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.587T>C (p.Leu196Ser) single nucleotide variant not provided [RCV000178730] ChrX:149498228 [GRCh38]
ChrX:148579759 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.597del (p.Lys199fs) deletion not provided [RCV000178731] ChrX:149498218 [GRCh38]
ChrX:148579749 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.641C>T (p.Thr214Met) single nucleotide variant History of neurodevelopmental disorder [RCV000715966]|Mucopolysaccharidosis, MPS-II [RCV000205107]|not provided [RCV000587097]|not specified [RCV000078368] ChrX:149498174 [GRCh38]
ChrX:148579705 [GRCh37]
ChrX:Xq28
pathogenic|benign|conflicting interpretations of pathogenicity
NM_000202.8(IDS):c.829C>T (p.Gln277Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291010] ChrX:149496396 [GRCh38]
ChrX:148577927 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1191del (p.Met398fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291017] ChrX:149483208 [GRCh38]
ChrX:148564739 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.403A>G (p.Lys135Glu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001290996] ChrX:149503327 [GRCh38]
ChrX:148584857 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.590C>T (p.Pro197Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291000] ChrX:149498225 [GRCh38]
ChrX:148579756 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.613del (p.Ala205fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291001] ChrX:149498202 [GRCh38]
ChrX:148579733 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.801dup (p.Met268fs) duplication Mucopolysaccharidosis, MPS-II [RCV001291007] ChrX:149496423..149496424 [GRCh38]
ChrX:148577954..148577955 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.208dup (p.His70fs) duplication not provided [RCV000175548] ChrX:149504188..149504189 [GRCh38]
ChrX:148585718..148585719 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291013] ChrX:149487077 [GRCh38]
ChrX:148568608 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1221del (p.Thr409fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291019] ChrX:149483178 [GRCh38]
ChrX:148564709 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291020] ChrX:149483165 [GRCh38]
ChrX:148564696 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA insertion Mucopolysaccharidosis, MPS-II [RCV001291030] ChrX:149504154..149504155 [GRCh38]
ChrX:148585684..148585685 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291035] ChrX:149498132 [GRCh38]
ChrX:148579663 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.314_317dup (p.Ser107fs) duplication not provided [RCV000177015] ChrX:149503412..149503413 [GRCh38]
ChrX:148584942..148584943 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1007-8T>G single nucleotide variant not provided [RCV000180107] ChrX:149487106 [GRCh38]
ChrX:148568637 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.832_833insATGTTTAAGGGAAG (p.Ala278delinsAspValTer) insertion not provided [RCV000179274] ChrX:149496392..149496393 [GRCh38]
ChrX:148577923..148577924 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.690_691insT (p.Pro231fs) insertion not provided [RCV000178732] ChrX:149498124..149498125 [GRCh38]
ChrX:148579655..148579656 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.998C>A (p.Ser333Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291012] ChrX:149490322 [GRCh38]
ChrX:148571853 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1431del (p.Asp478fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291025] ChrX:149482968 [GRCh38]
ChrX:148564499 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.248del (p.Val83fs) deletion Mucopolysaccharidosis, MPS-II [RCV001290994] ChrX:149503482 [GRCh38]
ChrX:148585012 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001290998] ChrX:149503423 [GRCh38]
ChrX:148584953 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs) indel Mucopolysaccharidosis, MPS-II [RCV001291006] ChrX:149496438..149496439 [GRCh38]
ChrX:148577969..148577970 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.814C>T (p.Gln272Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291009] ChrX:149496411 [GRCh38]
ChrX:148577942 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291747] ChrX:149482831 [GRCh38]
ChrX:148564362 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.419-2A>G single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291938] ChrX:149501039 [GRCh38]
ChrX:148582570 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1006+1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291939] ChrX:149490313 [GRCh38]
ChrX:148571844 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del) microsatellite Mucopolysaccharidosis, MPS-II [RCV001291002] ChrX:149498188..149498190 [GRCh38]
ChrX:148579719..148579721 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291745] ChrX:149487058 [GRCh38]
ChrX:148568589 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.104-2A>C single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291941] ChrX:149504295 [GRCh38]
ChrX:148585825 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.257C>G (p.Pro86Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291743] ChrX:149503473 [GRCh38]
ChrX:148585003 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291748] ChrX:149498123 [GRCh38]
ChrX:148579654 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter) insertion Mucopolysaccharidosis, MPS-II [RCV001291016] ChrX:149486954..149486955 [GRCh38]
ChrX:148568485..148568486 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1129del (p.Leu377fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291015] ChrX:149486976 [GRCh38]
ChrX:148568507 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291023] ChrX:149483042..149483046 [GRCh38]
ChrX:148564573..148564577 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149209021-149681127)x3 copy number gain See cases [RCV000133756] ChrX:149209021..149681127 [GRCh38]
ChrX:148098221..148603548 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:149489477-149681127)x2 copy number gain See cases [RCV000136920] ChrX:149489477..149681127 [GRCh38]
ChrX:148378913..148603594 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:149474154-149506155)x0 copy number loss See cases [RCV000138291] ChrX:149474154..149506155 [GRCh38]
ChrX:148363589..148395590 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149383585-149599140)x2 copy number gain See cases [RCV000140479] ChrX:149383585..149599140 [GRCh38]
ChrX:148465115..148680802 [GRCh37]
ChrX:148272846..148488601 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149186314-149681127)x2 copy number gain See cases [RCV000141245] ChrX:149186314..149681127 [GRCh38]
ChrX:148075488..148603594 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq28(chrX:149176559-149746198)x2 copy number gain See cases [RCV000141986] ChrX:149176559..149746198 [GRCh38]
ChrX:148258089..148827859 [GRCh37]
ChrX:148065733..148635671 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1 copy number loss See cases [RCV000141518] ChrX:142602008..149482800 [GRCh38]
ChrX:141689794..147944759 [GRCh37]
ChrX:141517460..148372236 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:149467866-149746113)x2 copy number gain See cases [RCV000142042] ChrX:149467866..149746113 [GRCh38]
ChrX:148549397..148827774 [GRCh37]
ChrX:148357302..148635586 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:149489072-149650223)x3 copy number gain See cases [RCV000142043] ChrX:149489072..149650223 [GRCh38]
ChrX:148570603..148731892 [GRCh37]
ChrX:148378508..148539697 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:149176559-149745979)x3 copy number gain See cases [RCV000143669] ChrX:149176559..149745979 [GRCh38]
ChrX:148258089..148827640 [GRCh37]
ChrX:148065733..148635452 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:149045934-149690142)x2 copy number gain See cases [RCV000143564] ChrX:149045934..149690142 [GRCh38]
ChrX:148127464..148771802 [GRCh37]
ChrX:147935169..148570601 [NCBI36]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001081199]|not provided [RCV000675884] ChrX:149504293 [GRCh38]
ChrX:148585823 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.1148del (p.Pro383fs) deletion not provided [RCV000180106] ChrX:149486957 [GRCh38]
ChrX:148568488 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.419-16dup duplication not provided [RCV000178062] ChrX:149501042..149501043 [GRCh38]
ChrX:148582573..148582574 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000715643]|Mucopolysaccharidosis, MPS-II [RCV000990962]|not provided [RCV000675877]|not specified [RCV000179733] ChrX:149490395 [GRCh38]
ChrX:148571926 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_000202.8(IDS):c.1227G>A (p.Thr409=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001078787]|not provided [RCV000180474] ChrX:149483172 [GRCh38]
ChrX:148564703 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000202.8(IDS):c.396G>A (p.Ser132=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001085852]|not provided [RCV000177013] ChrX:149503334 [GRCh38]
ChrX:148584864 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000202.8(IDS):c.411del (p.His138fs) deletion Mucopolysaccharidosis, MPS-II [RCV000204366] ChrX:149503319 [GRCh38]
ChrX:148584849 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204392] ChrX:149487072 [GRCh38]
ChrX:148568603 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1181-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204452] ChrX:149483219 [GRCh38]
ChrX:148564750 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204533] ChrX:149498202 [GRCh38]
ChrX:148579733 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.708+1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204551] ChrX:149498106 [GRCh38]
ChrX:148579637 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204759] ChrX:149501031 [GRCh38]
ChrX:148582562 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204905] ChrX:149496405 [GRCh38]
ChrX:148577936 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205196] ChrX:149490385 [GRCh38]
ChrX:148571916 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.906_907CT[1] (p.Ser303fs) microsatellite Mucopolysaccharidosis, MPS-II [RCV000205483] ChrX:149490411..149490412 [GRCh38]
ChrX:148571942..148571943 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205510]|not provided [RCV001008649] ChrX:149483006 [GRCh38]
ChrX:148564537 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.241-5A>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205544] ChrX:149503494 [GRCh38]
ChrX:148585024 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205679] ChrX:149482966 [GRCh38]
ChrX:148564497 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.359C>A (p.Pro120His) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205759] ChrX:149503371 [GRCh38]
ChrX:148584901 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205838] ChrX:149498132 [GRCh38]
ChrX:148579663 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205861] ChrX:149500987 [GRCh38]
ChrX:148582518 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000206113] ChrX:149487089 [GRCh38]
ChrX:148568620 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.22_37del (p.Arg8fs) deletion Mucopolysaccharidosis, MPS-II [RCV000206485] ChrX:149505101..149505116 [GRCh38]
ChrX:148586631..148586646 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.191T>A (p.Ile64Asn) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000206626] ChrX:149504206 [GRCh38]
ChrX:148585736 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000203709] ChrX:149490436 [GRCh38]
ChrX:148571967 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.508-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000206667] ChrX:149498308 [GRCh38]
ChrX:148579839 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000206790]|not provided [RCV001092169] ChrX:149504216 [GRCh38]
ChrX:148585746 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.401G>A (p.Gly134Glu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000206848] ChrX:149503329 [GRCh38]
ChrX:148584859 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204006] ChrX:149498223 [GRCh38]
ChrX:148579754 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) deletion Mucopolysaccharidosis, MPS-II [RCV000207366] ChrX:149496458..149496471 [GRCh38]
ChrX:148577989..148578002 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207368] ChrX:149490317 [GRCh38]
ChrX:148571848 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.508-1G>C single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207376] ChrX:149498308 [GRCh38]
ChrX:148579839 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) deletion Mucopolysaccharidosis, MPS-II [RCV000207401] ChrX:149486972..149486973 [GRCh38]
ChrX:148568503..148568504 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1025A>C (p.His342Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207405] ChrX:149487080 [GRCh38]
ChrX:148568611 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1006+1G>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207409] ChrX:149490313 [GRCh38]
ChrX:148571844 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.133G>C (p.Asp45His) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207419] ChrX:149504264 [GRCh38]
ChrX:148585794 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) indel Mucopolysaccharidosis, MPS-II [RCV000207427] ChrX:149500992..149500993 [GRCh38]
ChrX:148582523..148582524 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1463del (p.Met488fs) deletion Mucopolysaccharidosis, MPS-II [RCV000207439] ChrX:149482936 [GRCh38]
ChrX:148564467 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.7(IDS):c.-217_103del320 deletion Mucopolysaccharidosis, MPS-II [RCV000207434] ChrX:149505035..149505354 [GRCh38]
ChrX:148586565..148586884 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000718790]|Mucopolysaccharidosis, MPS-II [RCV001081803]|not provided [RCV000675881] ChrX:149500991 [GRCh38]
ChrX:148582522 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000718814]|Mucopolysaccharidosis, MPS-II [RCV001081450]|not provided [RCV000487550] ChrX:149496471 [GRCh38]
ChrX:148578002 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001088215]|not provided [RCV000353621] ChrX:149503429 [GRCh38]
ChrX:148584959 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000202.8(IDS):c.806A>T (p.Asp269Val) single nucleotide variant not provided [RCV000489884] ChrX:149496419 [GRCh38]
ChrX:148577950 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000811810]|not provided [RCV000374453] ChrX:149483134 [GRCh38]
ChrX:148564665 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) single nucleotide variant not provided [RCV000359304] ChrX:149482808 [GRCh38]
ChrX:148564339 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.252C>A (p.Cys84Ter) single nucleotide variant not provided [RCV000593133] ChrX:149503478 [GRCh38]
ChrX:148585008 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.404_405del (p.Lys135fs) deletion not provided [RCV000597654] ChrX:149503325..149503326 [GRCh38]
ChrX:148584855..148584856 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.248T>G (p.Val83Gly) single nucleotide variant Global developmental delay [RCV000735294] ChrX:149503482 [GRCh38]
ChrX:148585012 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000718787]|Mucopolysaccharidosis, MPS-II [RCV001081804]|not provided [RCV000675880] ChrX:149500989 [GRCh38]
ChrX:148582520 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.126C>T (p.Ile42=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000875709]|not specified [RCV000731544] ChrX:149504271 [GRCh38]
ChrX:148585801 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.1013C>A (p.Ala338Asp) single nucleotide variant not provided [RCV000727560] ChrX:149487092 [GRCh38]
ChrX:148568623 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:148555685-148713231)x2 copy number gain See cases [RCV000449428] ChrX:148555685..148713231 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:148433778-148639974)x3 copy number gain See cases [RCV000447674] ChrX:148433778..148639974 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.667G>A (p.Val223Ile) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000914690]|not specified [RCV000424614] ChrX:149498148 [GRCh38]
ChrX:148579679 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.1393C>A (p.Gln465Lys) single nucleotide variant not provided [RCV000429619] ChrX:149483006 [GRCh38]
ChrX:148564537 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) single nucleotide variant not provided [RCV000481557]|not specified [RCV001293485] ChrX:149490386 [GRCh38]
ChrX:148571917 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn) single nucleotide variant not provided [RCV000478817] ChrX:149487059 [GRCh38]
ChrX:148568590 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000501829] ChrX:149487006 [GRCh38]
ChrX:148568537 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.473_475ATC[1] (p.His159del) microsatellite Mucopolysaccharidosis, MPS-II [RCV000499707] ChrX:149500978..149500980 [GRCh38]
ChrX:148582509..148582511 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:148257168-148830292)x3 copy number gain See cases [RCV000510581] ChrX:148257168..148830292 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1027G>A (p.Gly343Arg) single nucleotide variant not provided [RCV000498587] ChrX:149487078 [GRCh38]
ChrX:148568609 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:148015538-148827774)x2 copy number gain See cases [RCV000510949] ChrX:148015538..148827774 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000632181] ChrX:149503341 [GRCh38]
ChrX:148584871 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.419-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000632182] ChrX:149501038 [GRCh38]
ChrX:148582569 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000632180] ChrX:149503473 [GRCh38]
ChrX:148585003 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_148564257)_(148586687_?)del deletion Mucopolysaccharidosis, MPS-II [RCV000534923] ChrX:148564257..148586687 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_148564257)_(148586687_?)dup duplication Mucopolysaccharidosis, MPS-II [RCV000632183] ChrX:148564257..148586687 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000625940] ChrX:149504201 [GRCh38]
ChrX:148585731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_000202.8(IDS):c.479C>A (p.Pro160His) single nucleotide variant not provided [RCV000598044] ChrX:149500977 [GRCh38]
ChrX:148582508 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.709-680C>T single nucleotide variant not provided [RCV000675879] ChrX:149497196 [GRCh38]
ChrX:148578727 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.419-6del deletion not provided [RCV000675882] ChrX:149501043 [GRCh38]
ChrX:148582574 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter) single nucleotide variant not provided [RCV000675883] ChrX:149503421 [GRCh38]
ChrX:148584951 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000202.8(IDS):c.103+5C>T single nucleotide variant History of neurodevelopmental disorder [RCV000716351]|Mucopolysaccharidosis, MPS-II [RCV000893260] ChrX:149505030 [GRCh38]
ChrX:148586560 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.1181-13C>T single nucleotide variant not provided [RCV000675876] ChrX:149483231 [GRCh38]
ChrX:148564762 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.709-671dup duplication not provided [RCV000675878] ChrX:149497176..149497177 [GRCh38]
ChrX:148578707..148578708 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.542A>G (p.Asn181Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719615] ChrX:149498273 [GRCh38]
ChrX:148579804 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq28(chrX:147680249-149682911)x2 copy number gain not provided [RCV000684408] ChrX:147680249..149682911 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148566841-148875584)x3 copy number gain not provided [RCV000684410] ChrX:148566841..148875584 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:148581602-148827774)x2 copy number gain not provided [RCV000684411] ChrX:148581602..148827774 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000689901] ChrX:149486999 [GRCh38]
ChrX:148568530 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000691787] ChrX:149498113 [GRCh38]
ChrX:148579644 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1144G>C (p.Asp382His) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000688992] ChrX:149486961 [GRCh38]
ChrX:148568492 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.957C>T (p.Asp319=) single nucleotide variant History of neurodevelopmental disorder [RCV000718011]|Mucopolysaccharidosis, MPS-II [RCV000910706] ChrX:149490363 [GRCh38]
ChrX:148571894 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000719450]|Mucopolysaccharidosis, MPS-II [RCV000872965] ChrX:149496444 [GRCh38]
ChrX:148577975 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.753C>T (p.Pro251=) single nucleotide variant History of neurodevelopmental disorder [RCV000718617]|Mucopolysaccharidosis, MPS-II [RCV000871914] ChrX:149496472 [GRCh38]
ChrX:148578003 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.236C>T (p.Ala79Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717828] ChrX:149504161 [GRCh38]
ChrX:148585691 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.999G>A (p.Ser333=) single nucleotide variant History of neurodevelopmental disorder [RCV000718593] ChrX:149490321 [GRCh38]
ChrX:148571852 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.357C>T (p.Ile119=) single nucleotide variant History of neurodevelopmental disorder [RCV000719515] ChrX:149503373 [GRCh38]
ChrX:148584903 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1074C>G (p.Pro358=) single nucleotide variant History of neurodevelopmental disorder [RCV000720990]|Mucopolysaccharidosis, MPS-II [RCV000871468]|not provided [RCV001171648] ChrX:149487031 [GRCh38]
ChrX:148568562 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.1268C>T (p.Pro423Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000721088] ChrX:149483131 [GRCh38]
ChrX:148564662 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.123C>G (p.Leu41=) single nucleotide variant History of neurodevelopmental disorder [RCV000720937]|Mucopolysaccharidosis, MPS-II [RCV000875710]|not specified [RCV000731543] ChrX:149504274 [GRCh38]
ChrX:148585804 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.1269C>T (p.Pro423=) single nucleotide variant History of neurodevelopmental disorder [RCV000721087]|Mucopolysaccharidosis, MPS-II [RCV000872444] ChrX:149483130 [GRCh38]
ChrX:148564661 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:148581931-148762795)x3 copy number gain not provided [RCV000753879] ChrX:148581931..148762795 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001083047]|not provided [RCV000762676] ChrX:149501011 [GRCh38]
ChrX:148582542 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001007857] ChrX:149498202 [GRCh38]
ChrX:148579733 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790545] ChrX:149503371 [GRCh38]
ChrX:148584901 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.418+34G>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000990964] ChrX:149503278 [GRCh38]
ChrX:148584808 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001057510] ChrX:149490319 [GRCh38]
ChrX:148571850 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000202.8(IDS):c.449C>T (p.Pro150Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001057671] ChrX:149501007 [GRCh38]
ChrX:148582538 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000946036] ChrX:149490439 [GRCh38]
ChrX:148571970 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.684A>G (p.Pro228=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000899428] ChrX:149498131 [GRCh38]
ChrX:148579662 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.825C>T (p.Asp275=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000865485] ChrX:149496400 [GRCh38]
ChrX:148577931 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000924192] ChrX:149483027 [GRCh38]
ChrX:148564558 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.666C>T (p.Ala222=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000864901] ChrX:149498149 [GRCh38]
ChrX:148579680 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.450G>A (p.Pro150=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000879403] ChrX:149501006 [GRCh38]
ChrX:148582537 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu) single nucleotide variant not provided [RCV000950891] ChrX:149486993 [GRCh38]
ChrX:148568524 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000950974] ChrX:149490383 [GRCh38]
ChrX:148571914 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_148577857)_(148579858_?)del deletion Mucopolysaccharidosis, MPS-II [RCV001031156] ChrX:148577857..148579858 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000780348] ChrX:149504254 [GRCh38]
ChrX:148585784 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000781473] ChrX:149487061 [GRCh38]
ChrX:148568592 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790548] ChrX:149496414 [GRCh38]
ChrX:148577945 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790550] ChrX:149482999 [GRCh38]
ChrX:148564530 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790551] ChrX:149482921 [GRCh38]
ChrX:148564452 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.984del (p.Ile329fs) deletion Mucopolysaccharidosis, MPS-II [RCV000810354] ChrX:149490336 [GRCh38]
ChrX:148571867 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000781472] ChrX:149504159 [GRCh38]
ChrX:148585689 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_000202.8(IDS):c.419-10T>G single nucleotide variant not provided [RCV000926345] ChrX:149501047 [GRCh38]
ChrX:148582578 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.162T>C (p.Tyr54=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000880961] ChrX:149504235 [GRCh38]
ChrX:148585765 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1143C>T (p.Leu381=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000878341] ChrX:149486962 [GRCh38]
ChrX:148568493 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1293G>A (p.Leu431=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000944596] ChrX:149483106 [GRCh38]
ChrX:148564637 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.69C>T (p.Ala23=) single nucleotide variant not provided [RCV000979522] ChrX:149505069 [GRCh38]
ChrX:148586599 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.849G>C (p.Val283=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000908887] ChrX:149496376 [GRCh38]
ChrX:148577907 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000908901] ChrX:149482900 [GRCh38]
ChrX:148564431 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1500T>C (p.Thr500=) single nucleotide variant not provided [RCV000883194] ChrX:149482899 [GRCh38]
ChrX:148564430 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001279580]|not provided [RCV000872819] ChrX:149505041 [GRCh38]
ChrX:148586571 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.589_592del (p.Pro197fs) deletion Mucopolysaccharidosis, MPS-II [RCV000790546] ChrX:149498223..149498226 [GRCh38]
ChrX:148579754..148579757 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) insertion Mucopolysaccharidosis, MPS-II [RCV000818958] ChrX:149505049..149505050 [GRCh38]
ChrX:148586579..148586580 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.418+1G>C single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000823054] ChrX:149503311 [GRCh38]
ChrX:148584841 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_148578704)_(148586687_?)del deletion Mucopolysaccharidosis, MPS-II [RCV000804603] ChrX:148578704..148586687 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_148564267)_(148586894_?)del deletion Mucopolysaccharidosis, MPS-II [RCV000817273] ChrX:148564267..148586894 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:148087396-148604226)x3 copy number gain not provided [RCV000847770] ChrX:148087396..148604226 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790544] ChrX:149504210 [GRCh38]
ChrX:148585740 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_000202.8(IDS):c.708G>A (p.Lys236=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790547] ChrX:149498107 [GRCh38]
ChrX:148579638 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790549] ChrX:149483135 [GRCh38]
ChrX:148564666 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790552] ChrX:149482836 [GRCh38]
ChrX:148564367 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.419-133dup duplication not provided [RCV000843782] ChrX:149501168..149501169 [GRCh38]
ChrX:148582699..148582700 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_148579618)_(148586687_?)del deletion Mucopolysaccharidosis, MPS-II [RCV000799418] ChrX:148579618..148586687 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.331G>C (p.Val111Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000795807] ChrX:149503399 [GRCh38]
ChrX:148584929 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000941232] ChrX:149496465 [GRCh38]
ChrX:148577996 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.414C>T (p.His138=) single nucleotide variant not provided [RCV000980513] ChrX:149503316 [GRCh38]
ChrX:148584846 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:148570607-148827859)x2 copy number gain not provided [RCV000846614] ChrX:148570607..148827859 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148266957-148830292)x3 copy number gain not provided [RCV000849233] ChrX:148266957..148830292 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148266957-148884123)x2 copy number gain not provided [RCV000847530] ChrX:148266957..148884123 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148570603-148832908)x3 copy number gain not provided [RCV000848582] ChrX:148570603..148832908 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 copy number gain not provided [RCV000846424] ChrX:139513270..149234353 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000202.8(IDS):c.1024C>T (p.His342Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001216955] ChrX:149487081 [GRCh38]
ChrX:148568612 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.653_654del (p.Pro218fs) deletion Mucopolysaccharidosis, MPS-II [RCV001220532] ChrX:149498161..149498162 [GRCh38]
ChrX:148579692..148579693 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.596_599del (p.Lys199fs) deletion Mucopolysaccharidosis, MPS-II [RCV001243493] ChrX:149498216..149498219 [GRCh38]
ChrX:148579747..148579750 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.878A>G (p.Gln293Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001238380] ChrX:149496347 [GRCh38]
ChrX:148577878 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1270G>A (p.Val424Ile) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001242397] ChrX:149483129 [GRCh38]
ChrX:148564660 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000990963] ChrX:149501014 [GRCh38]
ChrX:148582545 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) single nucleotide variant not specified [RCV001193752] ChrX:149498145 [GRCh38]
ChrX:148579676 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1248G>A (p.Leu416=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000930847] ChrX:149483151 [GRCh38]
ChrX:148564682 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1006+8T>C single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000951585] ChrX:149490306 [GRCh38]
ChrX:148571837 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.696C>T (p.Phe232=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000955138] ChrX:149498119 [GRCh38]
ChrX:148579650 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000974684] ChrX:149490436 [GRCh38]
ChrX:148571967 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.336C>T (p.His112=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000974685] ChrX:149503394 [GRCh38]
ChrX:148584924 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1293G>C (p.Leu431=) single nucleotide variant not provided [RCV000932404] ChrX:149483106 [GRCh38]
ChrX:148564637 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1113G>T (p.Pro371=) single nucleotide variant not provided [RCV000945023] ChrX:149486992 [GRCh38]
ChrX:148568523 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000952305] ChrX:149482909 [GRCh38]
ChrX:148564440 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.234T>C (p.Phe78=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000879174] ChrX:149504163 [GRCh38]
ChrX:148585693 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.777A>T (p.Leu259=) single nucleotide variant not provided [RCV000928162] ChrX:149496448 [GRCh38]
ChrX:148577979 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.231C>T (p.Ala77=) single nucleotide variant not provided [RCV000975701] ChrX:149504166 [GRCh38]
ChrX:148585696 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000945872] ChrX:149486946 [GRCh38]
ChrX:148568477 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.237G>A (p.Ala79=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000915243] ChrX:149504160 [GRCh38]
ChrX:148585690 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000899427] ChrX:149496374 [GRCh38]
ChrX:148577905 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.103+7C>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000951903] ChrX:149505028 [GRCh38]
ChrX:148586558 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001244314] ChrX:149486982 [GRCh38]
ChrX:148568513 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.263G>A (p.Arg88His) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001222779] ChrX:149503467 [GRCh38]
ChrX:148584997 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1350del (p.Pro451fs) deletion Mucopolysaccharidosis, MPS-II [RCV001089581] ChrX:149483049 [GRCh38]
ChrX:148564580 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.610C>T (p.Gln204Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001089580] ChrX:149498205 [GRCh38]
ChrX:148579736 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1478G>A (p.Arg493His) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001243617] ChrX:149482921 [GRCh38]
ChrX:148564452 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1284C>T (p.His428=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000913612] ChrX:149483115 [GRCh38]
ChrX:148564646 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.507+6G>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000935202] ChrX:149500943 [GRCh38]
ChrX:148582474 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000934628] ChrX:149505115 [GRCh38]
ChrX:148586645 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001254818] ChrX:149482895 [GRCh38]
ChrX:148564426 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000202.8(IDS):c.1285G>A (p.Val429Ile) single nucleotide variant Epidermolysis bullosa simplex with nail dystrophy [RCV001089666] ChrX:149483114 [GRCh38]
ChrX:148564645 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148299875-148649433)x2 copy number gain not provided [RCV001007358] ChrX:148299875..148649433 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:148392776-148855992)x4 copy number gain not provided [RCV001007359] ChrX:148392776..148855992 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001003052] ChrX:149486963 [GRCh38]
ChrX:148568494 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.708+1G>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001059349] ChrX:149498106 [GRCh38]
ChrX:148579637 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.22C>T (p.Arg8Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001216081] ChrX:149505116 [GRCh38]
ChrX:148586646 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1452_1453TA[1] (p.Ile485fs) microsatellite Mucopolysaccharidosis, MPS-II [RCV001035366] ChrX:149482944..149482945 [GRCh38]
ChrX:148564475..148564476 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.826G>C (p.Val276Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001213072] ChrX:149496399 [GRCh38]
ChrX:148577930 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148267375-148827859)x3 copy number gain not provided [RCV001007357] ChrX:148267375..148827859 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.124A>G (p.Ile42Val) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001040147] ChrX:149504273 [GRCh38]
ChrX:148585803 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001041100] ChrX:149487065 [GRCh38]
ChrX:148568596 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.838_842del (p.Asn280fs) deletion Mucopolysaccharidosis, MPS-II [RCV001066509] ChrX:149496383..149496387 [GRCh38]
ChrX:148577914..148577918 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) single nucleotide variant Inborn genetic diseases [RCV001265724] ChrX:149482902 [GRCh38]
ChrX:148564433 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.147C>T (p.Pro49=) single nucleotide variant not provided [RCV001257181] ChrX:149504250 [GRCh38]
ChrX:148585780 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.776_777dup (p.Pro260fs) duplication Mucopolysaccharidosis, MPS-II [RCV001291005] ChrX:149496447..149496448 [GRCh38]
ChrX:148577978..148577979 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291744] ChrX:149503478 [GRCh38]
ChrX:148585008 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:148538098-148855992)x3 copy number gain not provided [RCV001260055] ChrX:148538098..148855992 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:148448248-148855992)x4 copy number gain not provided [RCV001260056] ChrX:148448248..148855992 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.958G>A (p.Asp320Asn) single nucleotide variant Inborn genetic diseases [RCV001265810] ChrX:149490362 [GRCh38]
ChrX:148571893 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000202.8(IDS):c.133del (p.Asp45fs) deletion Mucopolysaccharidosis, MPS-II [RCV001290991] ChrX:149504264 [GRCh38]
ChrX:148585794 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001290992] ChrX:149504261 [GRCh38]
ChrX:148585791 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.715_721del (p.Gln239fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291004] ChrX:149496504..149496510 [GRCh38]
ChrX:148578035..148578041 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.800_801del (p.Trp267fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291008] ChrX:149496424..149496425 [GRCh38]
ChrX:148577955..148577956 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291018] ChrX:149483179..149483185 [GRCh38]
ChrX:148564710..148564716 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291022] ChrX:149483059 [GRCh38]
ChrX:148564590 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.241-9C>G single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291031] ChrX:149503498 [GRCh38]
ChrX:148585028 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1259del (p.Pro420fs) deletion Mucopolysaccharidosis, MPS-II [RCV001293706] ChrX:149483140 [GRCh38]
ChrX:148564671 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001297916] ChrX:149490422 [GRCh38]
ChrX:148571953 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) microsatellite Mucopolysaccharidosis, MPS-II [RCV001290990] ChrX:149504275..149504277 [GRCh38]
ChrX:148585805..148585807 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.781C>T (p.Pro261Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001345881] ChrX:149496444 [GRCh38]
ChrX:148577975 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001326645] ChrX:149483102 [GRCh38]
ChrX:148564633 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.933C>T (p.Val311=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001278797] ChrX:149490387 [GRCh38]
ChrX:148571918 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_148579628)_(148579848_?)dup duplication Mucopolysaccharidosis, MPS-II [RCV001322169] ChrX:148579628..148579848 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs) insertion Mucopolysaccharidosis, MPS-II [RCV001291021] ChrX:149483159..149483160 [GRCh38]
ChrX:148564690..148564691 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) microsatellite Mucopolysaccharidosis, MPS-II [RCV001291028] ChrX:149482906..149482907 [GRCh38]
ChrX:148564437..148564438 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.223C>T (p.Gln75Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291749] ChrX:149504174 [GRCh38]
ChrX:148585704 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001329095] ChrX:149498290 [GRCh38]
ChrX:148579821 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.899_900del (p.Tyr300fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291011] ChrX:149490420..149490421 [GRCh38]
ChrX:148571951..148571952 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.275T>C (p.Leu92Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291036] ChrX:149503455 [GRCh38]
ChrX:148584985 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291746] ChrX:149504235 [GRCh38]
ChrX:148585765 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.709-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291940] ChrX:149496517 [GRCh38]
ChrX:148578048 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1181-1G>C single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291942] ChrX:149483219 [GRCh38]
ChrX:148564750 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.136G>A (p.Asp46Asn) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001290993] ChrX:149504261 [GRCh38]
ChrX:148585791 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001305978] ChrX:149483215 [GRCh38]
ChrX:148564746 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5389 AgrOrtholog
COSMIC IDS COSMIC
Ensembl Genes ENSG00000010404 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000241489 Ensembl, UniProtKB/TrEMBL
Ensembl Protein ENSP00000339801 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359470 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390241 UniProtKB/TrEMBL
  ENSP00000418264 UniProtKB/Swiss-Prot
  ENSP00000428980 UniProtKB/TrEMBL
  ENSP00000429745 UniProtKB/TrEMBL
  ENSP00000477056 UniProtKB/TrEMBL
  ENSP00000498395 UniProtKB/TrEMBL
Ensembl Transcript ENST00000340855 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370441 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000422081 UniProtKB/TrEMBL
  ENST00000428056 UniProtKB/TrEMBL
  ENST00000464251 UniProtKB/TrEMBL
  ENST00000466323 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521702 UniProtKB/TrEMBL
  ENST00000651111 UniProtKB/TrEMBL
Gene3D-CATH 3.40.720.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000010404 GTEx
  ENSG00000241489 GTEx
HGNC ID HGNC:5389 ENTREZGENE
Human Proteome Map IDS Human Proteome Map
InterPro Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IDS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3423 UniProtKB/Swiss-Prot
NCBI Gene 3423 ENTREZGENE
OMIM 300823 OMIM
  309900 OMIM
Pfam Sulfatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29636 PharmGKB
PROSITE SULFATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SULFATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A286RZ44_HUMAN UniProtKB/TrEMBL
  A0A286RZ48_HUMAN UniProtKB/TrEMBL
  A0A286S6N5_HUMAN UniProtKB/TrEMBL
  B3KWA1_HUMAN UniProtKB/TrEMBL
  B4DGD7 ENTREZGENE, UniProtKB/TrEMBL
  E5RHJ1_HUMAN UniProtKB/TrEMBL
  H0YB91_HUMAN UniProtKB/TrEMBL
  IDS_HUMAN UniProtKB/Swiss-Prot
  L8E9D7_HUMAN UniProtKB/TrEMBL
  O60597_HUMAN UniProtKB/TrEMBL
  P22304 ENTREZGENE
  Q14603_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DWT4 UniProtKB/Swiss-Prot
  Q14604 UniProtKB/Swiss-Prot
  Q9BRM3 UniProtKB/Swiss-Prot