NAGLU (N-acetyl-alpha-glucosaminidase) - Rat Genome Database

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Gene: NAGLU (N-acetyl-alpha-glucosaminidase) Homo sapiens
Analyze
Symbol: NAGLU
Name: N-acetyl-alpha-glucosaminidase
RGD ID: 1351904
HGNC Page HGNC:7632
Description: Predicted to enable alpha-N-acetylglucosaminidase activity. Predicted to be involved in heparan sulfate proteoglycan catabolic process and nervous system development. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; circulatory system development; and nervous system development. Located in extracellular exosome. Implicated in Charcot-Marie-Tooth disease axonal type 2V; mucopolysaccharidosis III; and mucopolysaccharidosis type IIIB. Biomarker of mucopolysaccharidosis III.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-N-acetylglucosaminidase; CMT2V; MPS-IIIB; MPS3B; N-acetylglucosaminidase, alpha; NAG; testicular tissue protein Li 18; UFHSD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381742,536,241 - 42,544,449 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1742,536,241 - 42,544,449 (+)EnsemblGRCh38hg38GRCh38
GRCh371740,688,259 - 40,696,467 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,941,477 - 37,949,993 (+)NCBINCBI36Build 36hg18NCBI36
Build 341737,941,476 - 37,949,992NCBI
Celera1737,343,885 - 37,352,401 (+)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1736,452,897 - 36,461,477 (+)NCBIHuRef
CHM1_11740,923,793 - 40,932,309 (+)NCBICHM1_1
T2T-CHM13v2.01743,393,428 - 43,401,636 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (EXP)
diarsenic trioxide  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (ISO)
menadione  (EXP)
metformin  (ISO)
mifepristone  (ISO)
myo-inositol hexakisphosphate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
ozone  (ISO)
pentachlorophenol  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sodium cholate  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult behavior  (IEA,ISO)
amyloid precursor protein metabolic process  (IEA,ISO)
aorta development  (IEA,ISO)
aorta morphogenesis  (IEA,ISO)
astrocyte activation  (IEA,ISO)
astrocyte differentiation  (IEA,ISO)
autophagy  (IEA,ISO)
carbohydrate derivative metabolic process  (IEA)
cardiac muscle cell development  (IEA,ISO)
cell surface receptor signaling pathway via STAT  (IEA,ISO)
cellular response to organic cyclic compound  (IEA,ISO)
cellular response to oxidative stress  (IEA,ISO)
cerebellar Purkinje cell layer development  (IEA,ISO)
collagen metabolic process  (IEA,ISO)
cone retinal bipolar cell differentiation  (IEA,ISO)
cytoplasm organization  (IEA,ISO)
determination of adult lifespan  (IEA,ISO)
endothelium development  (IEA,ISO)
exploration behavior  (IEA,ISO)
ganglioside metabolic process  (IEA,ISO)
gene expression  (IEA,ISO)
glycoprotein metabolic process  (IEA,ISO)
glycosaminoglycan metabolic process  (IEA,ISO)
Golgi organization  (IEA,ISO)
hair follicle morphogenesis  (IEA,ISO)
heart development  (IEA,ISO)
heart valve development  (IEA,ISO)
heparan sulfate proteoglycan catabolic process  (IEA,TAS)
heparan sulfate proteoglycan metabolic process  (IEA,ISO)
heparin metabolic process  (IEA,ISO)
hormone metabolic process  (IEA,ISO)
inflammatory response  (IEA,ISO)
inner ear receptor cell development  (IEA,ISO)
left ventricular cardiac muscle tissue morphogenesis  (IEA,ISO)
limb development  (IEA,ISO)
lipid catabolic process  (ISO)
liver development  (IEA,ISO)
locomotor rhythm  (IEA,ISO)
locomotory behavior  (IEA,ISO)
lysosome organization  (IEA,ISO)
maintenance of blood-brain barrier  (IEA,ISO)
microglia differentiation  (IEA,ISO)
microglial cell activation  (IEA,ISO)
middle ear morphogenesis  (IEA,ISO)
mitral valve morphogenesis  (IEA,ISO)
motor behavior  (IEA,ISO)
multicellular organismal-level iron ion homeostasis  (IEA,ISO)
nerve development  (IEA,ISO)
nervous system development  (TAS)
neurogenesis  (IEA,ISO)
neuroinflammatory response  (IEA,ISO)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IEA,ISO)
protein oxidation  (ISO)
protein processing  (IEA,ISO)
proteoglycan metabolic process  (IEA,ISO)
response to disaccharide  (IEA,ISO)
response to lipopolysaccharide  (IEA,ISO)
response to wounding  (IEA,ISO)
retina development in camera-type eye  (IEA,ISO)
retinal rod cell development  (IEA,ISO)
rod bipolar cell differentiation  (IEA,ISO)
sequestering of iron ion  (IEA,ISO)
superoxide metabolic process  (IEA,ISO)
toll-like receptor 4 signaling pathway  (IEA,ISO)
vacuole organization  (IEA,ISO)
vasculature development  (IEA,ISO)
vesicle tethering  (IEA,ISO)

Cellular Component
extracellular exosome  (HDA,IDA)
lysosomal lumen  (IEA,ISO,TAS)
lysosome  (IEA,TAS)
membrane  (IEA)
vacuole  (IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Li HH, etal., Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14505-10.
3. Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients. O'Brien JS Proc Natl Acad Sci U S A. 1972 Jul;69(7):1720-2.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Neuroinflammation after neonatal hypoxia-ischemia is associated with alterations in the purinergic system: adenosine deaminase 1 isoenzyme is the most predominant after insult. Pimentel VC, etal., Mol Cell Biochem. 2015 May;403(1-2):169-77. doi: 10.1007/s11010-015-2347-9. Epub 2015 Feb 27.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Weber B, etal., Eur J Hum Genet. 1999 Jan;7(1):34-44.
10. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Yogalingam G and Hopwood JJ, Hum Mutat. 2001 Oct;18(4):264-81.
11. Short-term enzyme replacement in the murine model of Sanfilippo syndrome type B. Yu WH, etal., Mol Genet Metab. 2000 Dec;71(4):573-80.
Additional References at PubMed
PMID:1783617   PMID:6781343   PMID:8650226   PMID:8703123   PMID:8776591   PMID:9443878   PMID:9950362   PMID:10833408   PMID:10857861   PMID:11068184   PMID:11237686   PMID:11793481  
PMID:12202988   PMID:12477932   PMID:12709672   PMID:14671302   PMID:15489334   PMID:15933803   PMID:18218046   PMID:19056867   PMID:20138557   PMID:20301462   PMID:21082674   PMID:22102531  
PMID:22268729   PMID:22935351   PMID:23376485   PMID:23380547   PMID:23533145   PMID:24266751   PMID:25040106   PMID:25466957   PMID:25818867   PMID:26186194   PMID:26344197   PMID:27590925  
PMID:27880917   PMID:27907168   PMID:28306536   PMID:28514442   PMID:28751108   PMID:29568061   PMID:29606097   PMID:29676528   PMID:29955133   PMID:30802506   PMID:31536183   PMID:31825816  
PMID:32409323   PMID:33060197   PMID:33961781   PMID:35241468   PMID:35271311   PMID:35696571   PMID:35748872   PMID:36215168  


Genomics

Comparative Map Data
NAGLU
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381742,536,241 - 42,544,449 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1742,536,241 - 42,544,449 (+)EnsemblGRCh38hg38GRCh38
GRCh371740,688,259 - 40,696,467 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,941,477 - 37,949,993 (+)NCBINCBI36Build 36hg18NCBI36
Build 341737,941,476 - 37,949,992NCBI
Celera1737,343,885 - 37,352,401 (+)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1736,452,897 - 36,461,477 (+)NCBIHuRef
CHM1_11740,923,793 - 40,932,309 (+)NCBICHM1_1
T2T-CHM13v2.01743,393,428 - 43,401,636 (+)NCBIT2T-CHM13v2.0
Naglu
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911100,960,918 - 100,968,483 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11100,960,838 - 100,968,498 (+)EnsemblGRCm39 Ensembl
GRCm3811101,070,090 - 101,077,672 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11101,070,012 - 101,077,672 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711100,931,408 - 100,938,986 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611100,886,215 - 100,893,742 (+)NCBIMGSCv36mm8
Celera11112,366,211 - 112,373,780 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1164.15NCBI
Naglu
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81086,501,864 - 86,509,333 (+)NCBIGRCr8
mRatBN7.21086,001,545 - 86,009,049 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1086,001,566 - 86,008,972 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01088,979,363 - 88,986,879 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1088,979,383 - 88,986,867 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01088,777,870 - 88,785,375 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41090,085,836 - 90,093,926 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1084,719,246 - 84,726,764 (+)NCBICelera
Cytogenetic Map10q31NCBI
Naglu
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545116,445,338 - 16,450,062 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545116,445,338 - 16,449,243 (+)NCBIChiLan1.0ChiLan1.0
NAGLU
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21922,440,123 - 22,448,164 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11724,330,125 - 24,338,167 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01714,772,054 - 14,780,398 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11714,996,420 - 15,004,124 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1714,996,420 - 15,004,242 (-)Ensemblpanpan1.1panPan2
NAGLU
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1920,407,296 - 20,414,094 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl920,407,281 - 20,414,056 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha919,869,143 - 19,875,907 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0921,126,245 - 21,133,008 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl921,126,249 - 21,133,008 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1919,912,074 - 19,918,837 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0920,177,305 - 20,184,070 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0920,281,366 - 20,288,130 (-)NCBIUU_Cfam_GSD_1.0
Naglu
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560219,762,972 - 19,769,861 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649017,304,586 - 17,314,521 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649017,305,033 - 17,312,167 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAGLU
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11663,735,411 - 63,744,365 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607734,531,080 - 34,540,643 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Naglu
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247951,553,037 - 1,558,197 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247951,553,582 - 1,558,110 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NAGLU
1104 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000263.4(NAGLU):c.1638T>C (p.Ser546=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001494639] Chr17:42543644 [GRCh38]
Chr17:40695662 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000543925]|Mucopolysaccharidosis, MPS-III-B [RCV001276830]|not provided [RCV004710138] Chr17:42543989 [GRCh38]
Chr17:40696007 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000023780]|Mucopolysaccharidosis, MPS-III-B [RCV001043861]|Sanfilippo syndrome [RCV000590258]|not provided [RCV000433629] Chr17:42543700 [GRCh38]
Chr17:40695718 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001626]|Mucopolysaccharidosis, MPS-III-B [RCV000817080]|not provided [RCV000078455] Chr17:42544027 [GRCh38]
Chr17:40696045 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001627]|Mucopolysaccharidosis, MPS-III-B [RCV000802847]|not provided [RCV000153533] Chr17:42543882 [GRCh38]
Chr17:40695900 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) single nucleotide variant Mucopolysaccharidosis [RCV001030805]|Mucopolysaccharidosis, MPS-III-B [RCV000001628]|Mucopolysaccharidosis, MPS-III-B [RCV001041784]|not provided [RCV000485168] Chr17:42541074 [GRCh38]
Chr17:40693092 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001629]|Mucopolysaccharidosis, MPS-III-B [RCV001227283] Chr17:42543934 [GRCh38]
Chr17:40695952 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) single nucleotide variant Mucopolysaccharidosis [RCV001030808]|Mucopolysaccharidosis, MPS-III-B [RCV000001631]|Mucopolysaccharidosis, MPS-III-B [RCV001214750]|not provided [RCV001579503] Chr17:42543933 [GRCh38]
Chr17:40695951 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|not provided
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) single nucleotide variant Mucopolysaccharidosis [RCV001030807]|Mucopolysaccharidosis, MPS-III-B [RCV000001632]|Mucopolysaccharidosis, MPS-III-B [RCV001043674]|not provided [RCV001729332] Chr17:42543568 [GRCh38]
Chr17:40695586 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001633]|Mucopolysaccharidosis, MPS-III-B [RCV001223228]|not provided [RCV002269255] Chr17:42543699 [GRCh38]
Chr17:40695717 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001634]|Mucopolysaccharidosis, MPS-III-B [RCV001851558] Chr17:42543700 [GRCh38]
Chr17:40695718 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001635]|Mucopolysaccharidosis, MPS-III-B [RCV002512655] Chr17:42536414 [GRCh38]
Chr17:40688432 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001636]|Mucopolysaccharidosis, MPS-III-B [RCV001851559]|NAGLU-related disorder [RCV003894784] Chr17:42541127 [GRCh38]
Chr17:40693145 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001637]|Mucopolysaccharidosis, MPS-III-B [RCV001214384] Chr17:42543450 [GRCh38]
Chr17:40695468 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000001638]|Mucopolysaccharidosis, MPS-III-B [RCV001203422] Chr17:42538691 [GRCh38]
Chr17:40690709 [GRCh37]
Chr17:17q21.2
pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_000263.4(NAGLU):c.1355A>C (p.Glu452Ala) single nucleotide variant Tip-toe gait [RCV003319284] Chr17:42543361 [GRCh38]
Chr17:40695379 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.813T>C (p.Phe271=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001494431]|not specified [RCV004587166] Chr17:42540998 [GRCh38]
Chr17:40693016 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001495020] Chr17:42543749 [GRCh38]
Chr17:40695767 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000132721]|Mucopolysaccharidosis, MPS-III-B [RCV001378699] Chr17:42543952 [GRCh38]
Chr17:40695970 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000132722]|Mucopolysaccharidosis, MPS-III-B [RCV001036826] Chr17:42543955 [GRCh38]
Chr17:40695973 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) deletion Hypertrichosis [RCV000626637]|Mucopolysaccharidosis, MPS-III-B [RCV000001630]|Mucopolysaccharidosis, MPS-III-B [RCV001047802]|not provided [RCV001588794] Chr17:42537517..42537526 [GRCh38]
Chr17:40689535..40689544 [GRCh37]
Chr17:17q21.2
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001854380]|not provided [RCV000078454] Chr17:42543370 [GRCh38]
Chr17:40695388 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000604099]|Mucopolysaccharidosis, MPS-III-B [RCV001516235]|not provided [RCV000675734]|not specified [RCV000078456] Chr17:42544215 [GRCh38]
Chr17:40696233 [GRCh37]
Chr17:17q21.2
benign|likely benign|uncertain significance
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2V [RCV001778706]|Mucopolysaccharidosis, MPS-III-B [RCV000609064]|Mucopolysaccharidosis, MPS-III-B [RCV001523208]|not provided [RCV000588373]|not specified [RCV000078457] Chr17:42544215 [GRCh38]
Chr17:42544215..42544216 [GRCh38]
Chr17:40696233 [GRCh37]
Chr17:40696233..40696234 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2V [RCV001543038]|Mucopolysaccharidosis, MPS-III-B [RCV000613241]|Mucopolysaccharidosis, MPS-III-B [RCV001523207]|NAGLU-related disorder [RCV003891532]|not provided [RCV000587380]|not specified [RCV000078458] Chr17:42537437 [GRCh38]
Chr17:40689455 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000664563]|Mucopolysaccharidosis, MPS-III-B [RCV002514378]|not provided [RCV000078459] Chr17:42537517 [GRCh38]
Chr17:40689535 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.830_832del (p.Cys277del) deletion Mucopolysaccharidosis, MPS-III-B [RCV001854381]|not provided [RCV000078460] Chr17:42541013..42541015 [GRCh38]
Chr17:40693031..40693033 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000963953]|Mucopolysaccharidosis, MPS-III-B [RCV001123008]|not provided [RCV001698752]|not specified [RCV000078461] Chr17:42541118 [GRCh38]
Chr17:40693136 [GRCh37]
Chr17:17q21.2
benign|likely benign|uncertain significance
NM_000263.4(NAGLU):c.531+50G>C single nucleotide variant Charcot-Marie-Tooth disease axonal type 2V [RCV001543039]|Mucopolysaccharidosis, MPS-III-B [RCV001543040]|not provided [RCV001711972]|not specified [RCV000175569] Chr17:42537595 [GRCh38]
Chr17:40689613 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.944dup (p.Asn315fs) duplication not provided [RCV000178741] Chr17:42541127..42541128 [GRCh38]
Chr17:40693145..40693146 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.29T>G (p.Val10Gly) single nucleotide variant not provided [RCV000173091] Chr17:42536301 [GRCh38]
Chr17:40688319 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.154G>A (p.Val52Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003765083]|not provided [RCV000173092] Chr17:42536426 [GRCh38]
Chr17:40688444 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_000263.4(NAGLU):c.480del (p.Asn160fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000256392]|Mucopolysaccharidosis, MPS-III-B [RCV003765570] Chr17:42537494 [GRCh38]
Chr17:40689512 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV000256406] Chr17:42543949..42543950 [GRCh38]
Chr17:40695967..40695968 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.383+1G>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000672966]|Mucopolysaccharidosis, MPS-III-B [RCV001850099]|not provided [RCV000153531] Chr17:42536656 [GRCh38]
Chr17:40688674 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001083792]|Mucopolysaccharidosis, MPS-III-B [RCV001831957]|NAGLU-related disorder [RCV003965144]|not provided [RCV000153532] Chr17:42543328 [GRCh38]
Chr17:40695346 [GRCh37]
Chr17:17q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2V [RCV000186582]|Mucopolysaccharidosis, MPS-III-B [RCV001852433]|Mucopolysaccharidosis, MPS-III-B [RCV003479050]|not provided [RCV000423370] Chr17:42543214 [GRCh38]
Chr17:40695232 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001382879]|not provided [RCV000186583] Chr17:42536639 [GRCh38]
Chr17:40688657 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV000669838]|Mucopolysaccharidosis, MPS-III-B [RCV003767979]|not provided [RCV003319393] Chr17:42536491..42536492 [GRCh38]
Chr17:40688509..40688510 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV000669256]|Mucopolysaccharidosis, MPS-III-B [RCV001855517]|not provided [RCV003133495] Chr17:42544188..42544190 [GRCh38]
Chr17:40696206..40696208 [GRCh37]
Chr17:17q21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000670584]|Mucopolysaccharidosis, MPS-III-B [RCV001861796] Chr17:42536484..42536502 [GRCh38]
Chr17:40688502..40688520 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000382533]|Mucopolysaccharidosis, MPS-III-B [RCV001081797]|not provided [RCV000224285] Chr17:42537435 [GRCh38]
Chr17:40689453 [GRCh37]
Chr17:17q21.2
benign|likely benign
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000669643] Chr17:42543857 [GRCh38]
Chr17:40695875 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1A>G (p.Met1Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003767252]|not provided [RCV000578605] Chr17:42536273 [GRCh38]
Chr17:40688291 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) single nucleotide variant Inborn genetic diseases [RCV000622512]|Mucopolysaccharidosis, MPS-III-B [RCV002285379]|Mucopolysaccharidosis, MPS-III-B [RCV002531908] Chr17:42543997 [GRCh38]
Chr17:40696015 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001494398] Chr17:42543284 [GRCh38]
Chr17:40695302 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) single nucleotide variant Inborn genetic diseases [RCV002521108]|Mucopolysaccharidosis, MPS-III-B [RCV000291577]|Mucopolysaccharidosis, MPS-III-B [RCV000823550]|not provided [RCV001699452] Chr17:42536442 [GRCh38]
Chr17:40688460 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000294218]|Mucopolysaccharidosis, MPS-III-B [RCV002522962]|not provided [RCV004725166] Chr17:42540973 [GRCh38]
Chr17:40692991 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.3(NAGLU):c.-167G>T single nucleotide variant Sanfilippo syndrome [RCV000259543]|not provided [RCV003422285] Chr17:42536106 [GRCh38]
Chr17:40688124 [GRCh37]
Chr17:17q21.2
benign|uncertain significance
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000297983]|Mucopolysaccharidosis, MPS-III-B [RCV000910730] Chr17:42543278 [GRCh38]
Chr17:40695296 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000269629]|Mucopolysaccharidosis, MPS-III-B [RCV000957709]|NAGLU-related disorder [RCV004751464] Chr17:42544163 [GRCh38]
Chr17:40696181 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.3(NAGLU):c.-200G>C single nucleotide variant Sanfilippo syndrome [RCV000356572]|not provided [RCV001574709] Chr17:42536073 [GRCh38]
Chr17:40688091 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.3(NAGLU):c.-81C>T single nucleotide variant Sanfilippo syndrome [RCV000322151] Chr17:42536192 [GRCh38]
Chr17:40688210 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.3(NAGLU):c.-138A>G single nucleotide variant Sanfilippo syndrome [RCV000361769]|not provided [RCV001690070] Chr17:42536135 [GRCh38]
Chr17:40688153 [GRCh37]
Chr17:17q21.2
benign|likely benign
NM_000263.3(NAGLU):c.-228C>G single nucleotide variant Sanfilippo syndrome [RCV000396247] Chr17:42536045 [GRCh38]
Chr17:40688063 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.3(NAGLU):c.-275T>C single nucleotide variant Sanfilippo syndrome [RCV000314444] Chr17:42535998 [GRCh38]
Chr17:40688016 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.3(NAGLU):c.-271A>G single nucleotide variant Sanfilippo syndrome [RCV000366880] Chr17:42536002 [GRCh38]
Chr17:40688020 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000365725]|Mucopolysaccharidosis, MPS-III-B [RCV002522964] Chr17:42543912 [GRCh38]
Chr17:40695930 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000325498]|Mucopolysaccharidosis, MPS-III-B [RCV000915198] Chr17:42536620 [GRCh38]
Chr17:40688638 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000398123]|Mucopolysaccharidosis, MPS-III-B [RCV000915612]|not provided [RCV003884470] Chr17:42543509 [GRCh38]
Chr17:40695527 [GRCh37]
Chr17:17q21.2
benign|likely benign|uncertain significance
NM_000263.3(NAGLU):c.-144G>A single nucleotide variant Sanfilippo syndrome [RCV000317108] Chr17:42536129 [GRCh38]
Chr17:40688147 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV002521987]|not provided [RCV000327069] Chr17:42538449..42538450 [GRCh38]
Chr17:40690467..40690468 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002518010]|not provided [RCV000314943] Chr17:42543750 [GRCh38]
Chr17:40695768 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000984288]|Mucopolysaccharidosis, MPS-III-B [RCV001068161]|not provided [RCV000332868] Chr17:42538685 [GRCh38]
Chr17:40690703 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000308705]|Mucopolysaccharidosis, MPS-III-B [RCV000652884]|not provided [RCV001699316]|not specified [RCV001699453] Chr17:42543866 [GRCh38]
Chr17:40695884 [GRCh37]
Chr17:17q21.2
benign|likely benign|uncertain significance
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003765584]|Mucopolysaccharidosistype IIIB [RCV001250255]|not provided [RCV000341295] Chr17:42538692 [GRCh38]
Chr17:40690710 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) single nucleotide variant Intellectual disability [RCV001252583]|Mucopolysaccharidosis, MPS-III-B [RCV000765355]|Mucopolysaccharidosis, MPS-III-B [RCV001124069]|not provided [RCV000284729] Chr17:42543444 [GRCh38]
Chr17:40695462 [GRCh37]
Chr17:17q21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000403536]|Mucopolysaccharidosis, MPS-III-B [RCV001085002]|not provided [RCV000675731] Chr17:42543125 [GRCh38]
Chr17:40695143 [GRCh37]
Chr17:17q21.2
benign|likely benign|uncertain significance
NM_000263.3(NAGLU):c.-82T>C single nucleotide variant Sanfilippo syndrome [RCV000264792] Chr17:42536191 [GRCh38]
Chr17:40688209 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp) single nucleotide variant Inborn genetic diseases [RCV004021703]|Mucopolysaccharidosis, MPS-III-B [RCV000336458]|Mucopolysaccharidosis, MPS-III-B [RCV002522963] Chr17:42543501 [GRCh38]
Chr17:40695519 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.*198del deletion Sanfilippo syndrome [RCV000277722] Chr17:42544433 [GRCh38]
Chr17:40696451 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.3(NAGLU):c.-212G>C single nucleotide variant Sanfilippo syndrome [RCV000299355] Chr17:42536061 [GRCh38]
Chr17:40688079 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000609923]|Mucopolysaccharidosis, MPS-III-B [RCV001082045]|not provided [RCV000675732] Chr17:42543521 [GRCh38]
Chr17:40695539 [GRCh37]
Chr17:17q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000386340]|Mucopolysaccharidosis, MPS-III-B [RCV002522961]|not provided [RCV003480601] Chr17:42538674 [GRCh38]
Chr17:40690692 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000652883]|Mucopolysaccharidosis, MPS-III-B [RCV001126735]|not provided [RCV001532303]|not specified [RCV000365807] Chr17:42543794 [GRCh38]
Chr17:40695812 [GRCh37]
Chr17:17q21.2
benign|likely benign
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000673237]|not provided [RCV000403650] Chr17:42537436 [GRCh38]
Chr17:40689454 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1322C>G (p.Thr441Arg) single nucleotide variant not provided [RCV000265107] Chr17:42543328 [GRCh38]
Chr17:40695346 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000305124]|Mucopolysaccharidosis, MPS-III-B [RCV000907143]|NAGLU-related disorder [RCV003922370] Chr17:42543668 [GRCh38]
Chr17:40695686 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000352741]|Mucopolysaccharidosis, MPS-III-B [RCV000974680]|NAGLU-related disorder [RCV004751463]|not provided [RCV001564877] Chr17:42538482 [GRCh38]
Chr17:40690500 [GRCh37]
Chr17:17q21.2
benign|likely benign|uncertain significance
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro) single nucleotide variant not provided [RCV001573044]|not specified [RCV003323906] Chr17:42538727 [GRCh38]
Chr17:40690745 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.3(NAGLU):c.-78C>G single nucleotide variant Sanfilippo syndrome [RCV000383762] Chr17:42536195 [GRCh38]
Chr17:40688213 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000357538] Chr17:42543787 [GRCh38]
Chr17:40695805 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) single nucleotide variant Mucopolysaccharidosis [RCV001030809]|Mucopolysaccharidosis, MPS-III-B [RCV000625994]|Mucopolysaccharidosis, MPS-III-B [RCV000686454]|not provided [RCV001268050] Chr17:42543840 [GRCh38]
Chr17:40695858 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|not provided
NM_000263.4(NAGLU):c.886del (p.Leu296fs) deletion Inborn genetic diseases [RCV000623224]|Mucopolysaccharidosis, MPS-III-B [RCV002531909] Chr17:42541070 [GRCh38]
Chr17:40693088 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000652882]|Mucopolysaccharidosis, MPS-III-B [RCV001829637]|not provided [RCV000592453] Chr17:42543493 [GRCh38]
Chr17:40695511 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) single nucleotide variant Inborn genetic diseases [RCV002530901]|Mucopolysaccharidosis, MPS-III-B [RCV000761492]|Mucopolysaccharidosis, MPS-III-B [RCV001238278]|Sanfilippo syndrome [RCV000589472]|not provided [RCV001783091] Chr17:42543603 [GRCh38]
Chr17:40695621 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) single nucleotide variant Hypertrichosis [RCV000626636]|Mucopolysaccharidosis, MPS-III-B [RCV000409594]|Mucopolysaccharidosis, MPS-III-B [RCV000705481]|not provided [RCV002275001] Chr17:42537433 [GRCh38]
Chr17:40689451 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000411961]|Mucopolysaccharidosis, MPS-III-B [RCV003766125] Chr17:42541191 [GRCh38]
Chr17:40693209 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
GRCh37/hg19 17q21.2(chr17:40690377-40705781)x3 copy number gain See cases [RCV000448718] Chr17:40690377..40705781 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) single nucleotide variant Inborn genetic diseases [RCV000624490]|Mucopolysaccharidosis, MPS-III-B [RCV000501703]|Mucopolysaccharidosis, MPS-III-B [RCV001865629]|Tip-toe gait [RCV003319203]|not provided [RCV001591146] Chr17:42541119 [GRCh38]
Chr17:40693137 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668984]|Mucopolysaccharidosis, MPS-III-B [RCV001868227]|not provided [RCV000675733] Chr17:42543564 [GRCh38]
Chr17:40695582 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000669494]|Mucopolysaccharidosis, MPS-III-B [RCV001855520]|not provided [RCV003227824] Chr17:42543451 [GRCh38]
Chr17:40695469 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000263.4(NAGLU):c.809del (p.His270fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000668905] Chr17:42540994 [GRCh38]
Chr17:40693012 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.764+19C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001515738]|not provided [RCV000675730]|not specified [RCV000596837] Chr17:42538774 [GRCh38]
Chr17:40690792 [GRCh37]
Chr17:17q21.2
benign|likely benign
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV000672345]|Mucopolysaccharidosis, MPS-III-B [RCV001855578]|not provided [RCV001579932] Chr17:42536480..42536481 [GRCh38]
Chr17:40688498..40688499 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV000652885]|Mucopolysaccharidosis, MPS-III-B [RCV001331106]|NAGLU-related disorder [RCV003937989]|not provided [RCV001090844]|not specified [RCV001824856] Chr17:42536277..42536278 [GRCh38]
Chr17:40688295..40688296 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000625993]|not provided [RCV001784182] Chr17:42543921 [GRCh38]
Chr17:40695939 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) single nucleotide variant Intellectual disability [RCV001252580]|Mucopolysaccharidosis, MPS-III-B [RCV000668973]|Mucopolysaccharidosis, MPS-III-B [RCV003767970]|not provided [RCV004768533] Chr17:42536615 [GRCh38]
Chr17:40688633 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|likely benign
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000625281]|Mucopolysaccharidosis, MPS-III-B [RCV001080068]|NAGLU-related disorder [RCV003935737]|not provided [RCV000761954]|not specified [RCV001701131] Chr17:42543452 [GRCh38]
Chr17:40695470 [GRCh37]
Chr17:17q21.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003790922] Chr17:42543140 [GRCh38]
Chr17:40695158 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000673096]|Mucopolysaccharidosis, MPS-III-B [RCV001070181]|not provided [RCV003489793] Chr17:42543700 [GRCh38]
Chr17:40695718 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000673123] Chr17:42543938 [GRCh38]
Chr17:40695956 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000673135]|Mucopolysaccharidosis, MPS-III-B [RCV001855591]|not provided [RCV002245569] Chr17:42541189 [GRCh38]
Chr17:40693207 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) single nucleotide variant Intellectual disability [RCV001252576]|Mucopolysaccharidosis, MPS-III-B [RCV000664504]|Mucopolysaccharidosis, MPS-III-B [RCV002530629] Chr17:42541030 [GRCh38]
Chr17:40693048 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000672689]|Mucopolysaccharidosis, MPS-III-B [RCV003767998] Chr17:42544068 [GRCh38]
Chr17:40696086 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.867del (p.Ile290fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000673342] Chr17:42541049 [GRCh38]
Chr17:40693067 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2V [RCV000662124]|Mucopolysaccharidosis, MPS-III-B [RCV000662123]|Mucopolysaccharidosis, MPS-III-B [RCV000765354] Chr17:42543310 [GRCh38]
Chr17:40695328 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg) single nucleotide variant not provided [RCV000658258] Chr17:42541113 [GRCh38]
Chr17:40693131 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000669295]|Mucopolysaccharidosis, MPS-III-B [RCV002532086] Chr17:42544164 [GRCh38]
Chr17:40696182 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000669309] Chr17:42543444..42543453 [GRCh38]
Chr17:40695462..40695471 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) duplication Mucopolysaccharidosis, MPS-III-B [RCV000669799]|Mucopolysaccharidosis, MPS-III-B [RCV001861782] Chr17:42536283..42536284 [GRCh38]
Chr17:40688301..40688302 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000671657]|Mucopolysaccharidosis, MPS-III-B [RCV001868256]|not provided [RCV004721541] Chr17:42536416 [GRCh38]
Chr17:40688434 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000673658]|not provided [RCV001268871] Chr17:42543711 [GRCh38]
Chr17:40695729 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000670027]|Mucopolysaccharidosis, MPS-III-B [RCV001855534]|not provided [RCV001532304] Chr17:42543817 [GRCh38]
Chr17:40695835 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668870]|Mucopolysaccharidosis, MPS-III-B [RCV003767969]|Mucopolysaccharidosistype IIIB [RCV001250253] Chr17:42543342 [GRCh38]
Chr17:40695360 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance|no classifications from unflagged records
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000670156]|Mucopolysaccharidosis, MPS-III-B [RCV002485551] Chr17:42543627 [GRCh38]
Chr17:40695645 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000673872] Chr17:42536480 [GRCh38]
Chr17:40688498 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000667938]|Mucopolysaccharidosis, MPS-III-B [RCV001214720] Chr17:42536630 [GRCh38]
Chr17:40688648 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000673953]|Mucopolysaccharidosis, MPS-III-B [RCV001861828] Chr17:42543068 [GRCh38]
Chr17:40695086 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.531+46_531+75del deletion Mucopolysaccharidosis, MPS-III-B [RCV000671529] Chr17:42537588..42537617 [GRCh38]
Chr17:40689606..40689635 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV000674184] Chr17:42543466..42543467 [GRCh38]
Chr17:40695484..40695485 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) single nucleotide variant Mucopolysaccharidosis [RCV001030806]|Mucopolysaccharidosis, MPS-III-B [RCV000668600]|Mucopolysaccharidosis, MPS-III-B [RCV001378697] Chr17:42541185 [GRCh38]
Chr17:40693203 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668667]|Mucopolysaccharidosis, MPS-III-B [RCV001060496]|NAGLU-related disorder [RCV003403552] Chr17:42544122 [GRCh38]
Chr17:40696140 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000721982]|Mucopolysaccharidosis, MPS-III-B [RCV003768167] Chr17:42536581 [GRCh38]
Chr17:40688599 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000672379]|Mucopolysaccharidosis, MPS-III-B [RCV001855579]|not specified [RCV002265852] Chr17:42543235 [GRCh38]
Chr17:40695253 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000790380] Chr17:42543552 [GRCh38]
Chr17:40695570 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000674393] Chr17:42544059..42544060 [GRCh38]
Chr17:40696077..40696078 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000666920]|Mucopolysaccharidosis, MPS-III-B [RCV002530702] Chr17:42543869 [GRCh38]
Chr17:40695887 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000674604]|Mucopolysaccharidosis, MPS-III-B [RCV001861844] Chr17:42537475 [GRCh38]
Chr17:40689493 [GRCh37]
Chr17:17q21.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla) insertion Mucopolysaccharidosis, MPS-III-B [RCV000667105]|Mucopolysaccharidosis, MPS-III-B [RCV001240804] Chr17:42536473..42536474 [GRCh38]
Chr17:40688491..40688492 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV000673362] Chr17:42537526..42537528 [GRCh38]
Chr17:40689544..40689546 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000673421] Chr17:42536284..42536287 [GRCh38]
Chr17:40688302..40688305 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup) duplication Mucopolysaccharidosis, MPS-III-B [RCV000669698] Chr17:42536274..42536275 [GRCh38]
Chr17:40688292..40688293 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) deletion Mucopolysaccharidosis, MPS-III-B [RCV000667347]|Mucopolysaccharidosis, MPS-III-B [RCV002532063] Chr17:42537437..42537439 [GRCh38]
Chr17:40689455..40689457 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000670297]|Mucopolysaccharidosis, MPS-III-B [RCV001861790] Chr17:42544119 [GRCh38]
Chr17:40696137 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000670847] Chr17:42543427 [GRCh38]
Chr17:40695445 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV000673858] Chr17:42541017..42541020 [GRCh38]
Chr17:40693035..40693038 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000671324] Chr17:42536465 [GRCh38]
Chr17:40688483 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) deletion Mucopolysaccharidosis, MPS-III-B [RCV000671351] Chr17:42543400..42543402 [GRCh38]
Chr17:40695418..40695420 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) deletion Mucopolysaccharidosis, MPS-III-B [RCV000671623] Chr17:42537479..42537481 [GRCh38]
Chr17:40689497..40689499 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000674208]|Mucopolysaccharidosis, MPS-III-B [RCV001861836]|not provided [RCV003133502] Chr17:42544235 [GRCh38]
Chr17:40696253 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000667678] Chr17:42543714 [GRCh38]
Chr17:40695732 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000672859]|Mucopolysaccharidosis, MPS-III-B [RCV001855587] Chr17:42543206 [GRCh38]
Chr17:40695224 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000672989]|Mucopolysaccharidosis, MPS-III-B [RCV001861816] Chr17:42536546 [GRCh38]
Chr17:40688564 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.82del (p.Glu28fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000674339] Chr17:42536352 [GRCh38]
Chr17:40688370 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000665801]|Mucopolysaccharidosis, MPS-III-B [RCV001386358] Chr17:42543431 [GRCh38]
Chr17:40695449 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000674368] Chr17:42543998 [GRCh38]
Chr17:40696016 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000674403]|Mucopolysaccharidosis, MPS-III-B [RCV001855608]|not provided [RCV004768546]|not specified [RCV001193369] Chr17:42543778 [GRCh38]
Chr17:40695796 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.384-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668095]|Mucopolysaccharidosis, MPS-III-B [RCV002530736] Chr17:42537397 [GRCh38]
Chr17:40689415 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668171]|Mucopolysaccharidosis, MPS-III-B [RCV000819008]|not provided [RCV003117471] Chr17:42543247 [GRCh38]
Chr17:40695265 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) deletion Mucopolysaccharidosis, MPS-III-B [RCV000668177] Chr17:42536641..42536646 [GRCh38]
Chr17:40688659..40688664 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668224]|not provided [RCV000996550] Chr17:42538671 [GRCh38]
Chr17:40690689 [GRCh37]
Chr17:17q21.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000673665]|Mucopolysaccharidosis, MPS-III-B [RCV001218806]|not provided [RCV001784286] Chr17:42543099 [GRCh38]
Chr17:40695117 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000674733]|Mucopolysaccharidosis, MPS-III-B [RCV003768013] Chr17:42543680 [GRCh38]
Chr17:40695698 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668270]|Mucopolysaccharidosis, MPS-III-B [RCV001206756] Chr17:42543396 [GRCh38]
Chr17:40695414 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668384]|Mucopolysaccharidosis, MPS-III-B [RCV001855498]|NAGLU-related disorder [RCV004751657] Chr17:42541059 [GRCh38]
Chr17:40693077 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668435]|Mucopolysaccharidosis, MPS-III-B [RCV001248721]|Tip-toe gait [RCV001838091]|not provided [RCV003140063] Chr17:42544026 [GRCh38]
Chr17:40696044 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV000674044]|Mucopolysaccharidosis, MPS-III-B [RCV001868276] Chr17:42536473..42536474 [GRCh38]
Chr17:40688491..40688492 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000668625]|Mucopolysaccharidosis, MPS-III-B [RCV003767964] Chr17:42536274 [GRCh38]
Chr17:40688292 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000672754] Chr17:42540979..42540986 [GRCh38]
Chr17:40692997..40693004 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup) duplication Mucopolysaccharidosis, MPS-III-B [RCV000666519] Chr17:42536527..42536528 [GRCh38]
Chr17:40688545..40688546 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) deletion Mucopolysaccharidosis, MPS-III-B [RCV000674675] Chr17:42543167..42543181 [GRCh38]
Chr17:40695185..40695199 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000666363]|Mucopolysaccharidosis, MPS-III-B [RCV001043279] Chr17:42543217 [GRCh38]
Chr17:40695235 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000673016]|Mucopolysaccharidosis, MPS-III-B [RCV002532140] Chr17:42544238 [GRCh38]
Chr17:40696256 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000666575] Chr17:42543898..42543908 [GRCh38]
Chr17:40695916..40695926 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV000674055]|Mucopolysaccharidosis, MPS-III-B [RCV001243748] Chr17:42543452..42543453 [GRCh38]
Chr17:40695470..40695471 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del) deletion Mucopolysaccharidosis, MPS-III-B [RCV000673248] Chr17:42536296..42536301 [GRCh38]
Chr17:40688314..40688319 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1112del (p.Gly371fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV000674791] Chr17:42543116 [GRCh38]
Chr17:40695134 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000666674]|Mucopolysaccharidosis, MPS-III-B [RCV001855464] Chr17:42536276 [GRCh38]
Chr17:40688294 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
GRCh37/hg19 17q21.2(chr17:40570771-40797461)x3 copy number gain not provided [RCV000683935] Chr17:40570771..40797461 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000685743] Chr17:42543096 [GRCh38]
Chr17:40695114 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000699966]|Mucopolysaccharidosis, MPS-III-B [RCV001276828]|NAGLU-related disorder [RCV003411631] Chr17:42538376 [GRCh38]
Chr17:40690394 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV000714793] Chr17:42538339..42538340 [GRCh38]
Chr17:40690357..40690358 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000693826] Chr17:42543979 [GRCh38]
Chr17:40695997 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) deletion Mucopolysaccharidosis, MPS-III-B [RCV000696910] Chr17:42536481..42536504 [GRCh38]
Chr17:40688499..40688522 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1022-147G>A single nucleotide variant not provided [RCV001609134] Chr17:42542881 [GRCh38]
Chr17:40694899 [GRCh37]
Chr17:17q21.2
benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000263.4(NAGLU):c.159G>A (p.Glu53=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001467150] Chr17:42536431 [GRCh38]
Chr17:40688449 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.531+157G>A single nucleotide variant not provided [RCV001584748] Chr17:42537702 [GRCh38]
Chr17:40689720 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1376C>T (p.Ala459Val) single nucleotide variant Spastic ataxia [RCV001647224] Chr17:42543382 [GRCh38]
Chr17:40695400 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000979555] Chr17:42543341 [GRCh38]
Chr17:40695359 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.81G>C (p.Arg27=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001455636] Chr17:42536353 [GRCh38]
Chr17:40688371 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000761448] Chr17:42543319 [GRCh38]
Chr17:40695337 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001855946]|Tip-toe gait [RCV001580139]|not provided [RCV000761953] Chr17:42541185 [GRCh38]
Chr17:40693203 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003768294]|not provided [RCV000761955] Chr17:42544050 [GRCh38]
Chr17:40696068 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000989852]|Mucopolysaccharidosis, MPS-III-B [RCV002549732] Chr17:42541096 [GRCh38]
Chr17:40693114 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001065857] Chr17:42538692 [GRCh38]
Chr17:40690710 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000790558]|Mucopolysaccharidosis, MPS-III-B [RCV001856244] Chr17:42536502 [GRCh38]
Chr17:40688520 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) single nucleotide variant Mucopolysaccharidosis [RCV001030812] Chr17:42537543 [GRCh38]
Chr17:40689561 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000902719]|Mucopolysaccharidosis, MPS-III-B [RCV001274195] Chr17:42543905 [GRCh38]
Chr17:40695923 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001274194]|Mucopolysaccharidosis, MPS-III-B [RCV001466353]|not provided [RCV004705992] Chr17:42543827 [GRCh38]
Chr17:40695845 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000945155] Chr17:42543038 [GRCh38]
Chr17:40695056 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000899423]|Mucopolysaccharidosis, MPS-III-B [RCV001126733]|NAGLU-related disorder [RCV003950536] Chr17:42543563 [GRCh38]
Chr17:40695581 [GRCh37]
Chr17:17q21.2
benign|likely benign|uncertain significance
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000967703]|Mucopolysaccharidosis, MPS-III-B [RCV001274191]|NAGLU-related disorder [RCV003916241]|not provided [RCV004710223] Chr17:42543569 [GRCh38]
Chr17:40695587 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000947824]|Mucopolysaccharidosis, MPS-III-B [RCV001274193] Chr17:42543803 [GRCh38]
Chr17:40695821 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.383+7C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000884338]|Mucopolysaccharidosis, MPS-III-B [RCV001274188] Chr17:42536662 [GRCh38]
Chr17:40688680 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000966476]|Mucopolysaccharidosis, MPS-III-B [RCV001276829] Chr17:42543352 [GRCh38]
Chr17:40695370 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.18G>A (p.Val6=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001458335] Chr17:42536290 [GRCh38]
Chr17:40688308 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000929030]|Mucopolysaccharidosis, MPS-III-B [RCV001123006] Chr17:42537524 [GRCh38]
Chr17:40689542 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.771C>T (p.Phe257=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001423911] Chr17:42540956 [GRCh38]
Chr17:40692974 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.963C>A (p.Ser321=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003769281] Chr17:42541148 [GRCh38]
Chr17:40693166 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000981298] Chr17:42541112 [GRCh38]
Chr17:40693130 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2132G>A (p.Ser711Asn) single nucleotide variant not provided [RCV001810622] Chr17:42544138 [GRCh38]
Chr17:40696156 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.531+1G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001059597]|Mucopolysaccharidosis, MPS-III-B [RCV001832535] Chr17:42537546 [GRCh38]
Chr17:40689564 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) single nucleotide variant Mucopolysaccharidosis [RCV001030810]|Mucopolysaccharidosis, MPS-III-B [RCV000779220]|Mucopolysaccharidosis, MPS-III-B [RCV000806351]|NAGLU-related disorder [RCV003396352] Chr17:42543906 [GRCh38]
Chr17:40695924 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000778497]|Mucopolysaccharidosis, MPS-III-B [RCV001305250]|not specified [RCV001805845] Chr17:42543079 [GRCh38]
Chr17:40695097 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.996T>C (p.Thr332=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001504222] Chr17:42541181 [GRCh38]
Chr17:40693199 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+10C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000908276] Chr17:42538765 [GRCh38]
Chr17:40690783 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000914489] Chr17:42543494 [GRCh38]
Chr17:40695512 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.969G>A (p.Glu323=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001472008] Chr17:42541154 [GRCh38]
Chr17:40693172 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000942136] Chr17:42543683 [GRCh38]
Chr17:40695701 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000983417] Chr17:42536320 [GRCh38]
Chr17:40688338 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.786C>T (p.Val262=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001464977] Chr17:42540971 [GRCh38]
Chr17:40692989 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000938787]|Mucopolysaccharidosis, MPS-III-B [RCV001127138] Chr17:42544049 [GRCh38]
Chr17:40696067 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1941C>A (p.Thr647=) single nucleotide variant not provided [RCV000980278] Chr17:42543947 [GRCh38]
Chr17:40695965 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000893221]|Mucopolysaccharidosis, MPS-III-B [RCV001124068] Chr17:42543407 [GRCh38]
Chr17:40695425 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000976707]|Mucopolysaccharidosis, MPS-III-B [RCV001827077] Chr17:42543485 [GRCh38]
Chr17:40695503 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000817898] Chr17:42543952 [GRCh38]
Chr17:40695970 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1021+120C>T single nucleotide variant not provided [RCV000842787] Chr17:42541326 [GRCh38]
Chr17:40693344 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000801797]|Mucopolysaccharidosis, MPS-III-B [RCV001830727] Chr17:42537469 [GRCh38]
Chr17:40689487 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) single nucleotide variant Inborn genetic diseases [RCV004649364]|Mucopolysaccharidosis, MPS-III-B [RCV000893474]|Mucopolysaccharidosis, MPS-III-B [RCV001124071] Chr17:42543473 [GRCh38]
Chr17:40695491 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000989853]|Mucopolysaccharidosis, MPS-III-B [RCV002549733] Chr17:42541189 [GRCh38]
Chr17:40693207 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000796856]|not specified [RCV004526026] Chr17:42543283 [GRCh38]
Chr17:40695301 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000792982] Chr17:42538692 [GRCh38]
Chr17:40690710 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000790381] Chr17:42543975 [GRCh38]
Chr17:40695993 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000816215] Chr17:42544048 [GRCh38]
Chr17:40696066 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000790559]|Mucopolysaccharidosis, MPS-III-B [RCV003768478] Chr17:42543150 [GRCh38]
Chr17:40695168 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.532-239G>C single nucleotide variant not provided [RCV000842786] Chr17:42538100 [GRCh38]
Chr17:40690118 [GRCh37]
Chr17:17q21.2
benign
GRCh37/hg19 17q21.2(chr17:40595473-40785031)x3 copy number gain not provided [RCV000847110] Chr17:40595473..40785031 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.873C>T (p.Ile291=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000914878] Chr17:42541058 [GRCh38]
Chr17:40693076 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000989851] Chr17:42536517 [GRCh38]
Chr17:40688535 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001043921]|Mucopolysaccharidosis, MPS-III-B [RCV003155343] Chr17:42541111 [GRCh38]
Chr17:40693129 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001211634] Chr17:42541012 [GRCh38]
Chr17:40693030 [GRCh37]
Chr17:17q21.2
uncertain significance
GRCh37/hg19 17q21.2(chr17:40583927-40778487)x3 copy number gain not provided [RCV000846911] Chr17:40583927..40778487 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.753G>A (p.Glu251=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001240225]|Mucopolysaccharidosis, MPS-III-B [RCV001834117] Chr17:42538744 [GRCh38]
Chr17:40690762 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV001205178] Chr17:42536320..42536321 [GRCh38]
Chr17:40688338..40688339 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001226134]|Mucopolysaccharidosis, MPS-III-B [RCV001828803] Chr17:42543571 [GRCh38]
Chr17:40695589 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001211593] Chr17:42536585 [GRCh38]
Chr17:40688603 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly) indel Mucopolysaccharidosis, MPS-III-B [RCV001247516] Chr17:42544214..42544215 [GRCh38]
Chr17:40696232..40696233 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002068728]|NAGLU-related disorder [RCV003411940]|not provided [RCV000996549] Chr17:42538438 [GRCh38]
Chr17:40690456 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001869393]|not provided [RCV000996551] Chr17:42543273 [GRCh38]
Chr17:40695291 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001450300]|Mucopolysaccharidosis, MPS-III-B [RCV001832314]|NAGLU-related disorder [RCV003928646]|not provided [RCV000996552] Chr17:42543629 [GRCh38]
Chr17:40695647 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.2150G>C (p.Ser717Thr) single nucleotide variant not provided [RCV000996553] Chr17:42544156 [GRCh38]
Chr17:40696174 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001127139] Chr17:42544152 [GRCh38]
Chr17:40696170 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003388937]|Mucopolysaccharidosis, MPS-III-B [RCV003770292]|Mucopolysaccharidosistype IIIB [RCV001250254] Chr17:42536563 [GRCh38]
Chr17:40688581 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001068784] Chr17:42543294..42543295 [GRCh38]
Chr17:40695312..40695313 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001377261]|not provided [RCV001090845] Chr17:42543360 [GRCh38]
Chr17:40695378 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001126734]|Mucopolysaccharidosis, MPS-III-B [RCV001450753]|NAGLU-related disorder [RCV003898127]|not provided [RCV004546605] Chr17:42543629 [GRCh38]
Chr17:40695647 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003779841]|not specified [RCV003230900] Chr17:42537475 [GRCh38]
Chr17:40689493 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NC_000017.11:g.42535722G>T single nucleotide variant not provided [RCV001563146] Chr17:42535722 [GRCh38]
Chr17:40687740 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001865986]|See cases [RCV003156140]|not provided [RCV001563235] Chr17:42543218 [GRCh38]
Chr17:40695236 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1022-338C>T single nucleotide variant not provided [RCV001616371] Chr17:42542690 [GRCh38]
Chr17:40694708 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.942del (p.Phe314fs) deletion not provided [RCV001532302] Chr17:42541127 [GRCh38]
Chr17:40693145 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1021+100C>T single nucleotide variant not provided [RCV001716684] Chr17:42541306 [GRCh38]
Chr17:40693324 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001826393]|Mucopolysaccharidosis, MPS-III-B [RCV002570675]|not provided [RCV001547422] Chr17:42543441 [GRCh38]
Chr17:40695459 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2V [RCV001578638]|Mucopolysaccharidosis, MPS-III-B [RCV001578684]|Mucopolysaccharidosis, MPS-III-B [RCV001866081] Chr17:42543337 [GRCh38]
Chr17:40695355 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000929583] Chr17:42536554 [GRCh38]
Chr17:40688572 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000896477]|Mucopolysaccharidosis, MPS-III-B [RCV001274190] Chr17:42543092 [GRCh38]
Chr17:40695110 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000931100] Chr17:42543119 [GRCh38]
Chr17:40695137 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.780C>T (p.Val260=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000929839] Chr17:42540965 [GRCh38]
Chr17:40692983 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000941397]|Mucopolysaccharidosis, MPS-III-B [RCV001832157] Chr17:42543359 [GRCh38]
Chr17:40695377 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001487145] Chr17:42541190 [GRCh38]
Chr17:40693208 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000962592]|Mucopolysaccharidosis, MPS-III-B [RCV001124070] Chr17:42543470 [GRCh38]
Chr17:40695488 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000887020]|Mucopolysaccharidosis, MPS-III-B [RCV001274192] Chr17:42543623 [GRCh38]
Chr17:40695641 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.351G>T (p.Val117=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000930765] Chr17:42536623 [GRCh38]
Chr17:40688641 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000932154] Chr17:42538699 [GRCh38]
Chr17:40690717 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.723G>A (p.Val241=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000920662]|Mucopolysaccharidosis, MPS-III-B [RCV001274189]|not provided [RCV001726371] Chr17:42538714 [GRCh38]
Chr17:40690732 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV000930152]|Mucopolysaccharidosis, MPS-III-B [RCV001832113] Chr17:42541056 [GRCh38]
Chr17:40693074 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001127039] Chr17:42536331 [GRCh38]
Chr17:40688349 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001127136]|Mucopolysaccharidosis, MPS-III-B [RCV001856658] Chr17:42544032 [GRCh38]
Chr17:40696050 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.408C>T (p.Cys136=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001243142]|Mucopolysaccharidosis, MPS-III-B [RCV001835155] Chr17:42537422 [GRCh38]
Chr17:40689440 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001243909]|Mucopolysaccharidosis, MPS-III-B [RCV001835187] Chr17:42536331 [GRCh38]
Chr17:40688349 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1552del (p.Val518fs) deletion not provided [RCV001090846] Chr17:42543557 [GRCh38]
Chr17:40695575 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter) duplication Mucopolysaccharidosis, MPS-III-B [RCV001241282] Chr17:42544206..42544207 [GRCh38]
Chr17:40696224..40696225 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001244118]|Mucopolysaccharidosis, MPS-III-B [RCV001835196] Chr17:42536513 [GRCh38]
Chr17:40688531 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.765-238del deletion not provided [RCV001567124] Chr17:42540696 [GRCh38]
Chr17:40692714 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-284A>C single nucleotide variant not provided [RCV001563544] Chr17:42537114 [GRCh38]
Chr17:40689132 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) single nucleotide variant Intellectual disability [RCV001263373]|Mucopolysaccharidosis, MPS-III-B [RCV001371823]|Mucopolysaccharidosis, MPS-III-B [RCV001835354] Chr17:42536625 [GRCh38]
Chr17:40688643 [GRCh37]
Chr17:17q21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000263.4(NAGLU):c.1021+274G>A single nucleotide variant not provided [RCV001659332] Chr17:42541480 [GRCh38]
Chr17:40693498 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.765-330T>C single nucleotide variant not provided [RCV001719671] Chr17:42540620 [GRCh38]
Chr17:40692638 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.750C>T (p.Pro250=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001123007]|Mucopolysaccharidosis, MPS-III-B [RCV001451145] Chr17:42538741 [GRCh38]
Chr17:40690759 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001123089]|Mucopolysaccharidosis, MPS-III-B [RCV002558218] Chr17:42544191 [GRCh38]
Chr17:40696209 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.*174A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001123090] Chr17:42544412 [GRCh38]
Chr17:40696430 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.817T>C (p.Cys273Arg) single nucleotide variant Intellectual disability [RCV001252578] Chr17:42541002 [GRCh38]
Chr17:40693020 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1892G>T (p.Ser631Ile) single nucleotide variant Intellectual disability [RCV001252582] Chr17:42543898 [GRCh38]
Chr17:40695916 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001127040] Chr17:42536627 [GRCh38]
Chr17:40688645 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001127134]|Mucopolysaccharidosis, MPS-III-B [RCV002556778] Chr17:42543883 [GRCh38]
Chr17:40695901 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) single nucleotide variant Mucopolysaccharidosis [RCV001030811]|Mucopolysaccharidosis, MPS-III-B [RCV001862440] Chr17:42543495 [GRCh38]
Chr17:40695513 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|not provided
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001127135]|Mucopolysaccharidosis, MPS-III-B [RCV001434962]|NAGLU-related disorder [RCV003918717] Chr17:42543920 [GRCh38]
Chr17:40695938 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1291dup (p.Arg431fs) duplication not provided [RCV001171794] Chr17:42543294..42543295 [GRCh38]
Chr17:40695312..40695313 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NC_000017.11:g.42535761C>T single nucleotide variant not provided [RCV001651391] Chr17:42535761 [GRCh38]
Chr17:40687779 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.1021+174T>C single nucleotide variant not provided [RCV001707943] Chr17:42541380 [GRCh38]
Chr17:40693398 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del) deletion Mucopolysaccharidosis, MPS-III-B [RCV001236855] Chr17:42536347..42536379 [GRCh38]
Chr17:40688365..40688397 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001250668] Chr17:42538394 [GRCh38]
Chr17:40690412 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) single nucleotide variant Inborn genetic diseases [RCV002551385]|Mucopolysaccharidosis, MPS-III-B [RCV001037469]|Mucopolysaccharidosis, MPS-III-B [RCV001593198] Chr17:42544165 [GRCh38]
Chr17:40696183 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV001054291] Chr17:42543164..42543165 [GRCh38]
Chr17:40695182..40695183 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001206725] Chr17:42541086..42541087 [GRCh38]
Chr17:40693104..40693105 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001126736]|Mucopolysaccharidosis, MPS-III-B [RCV002556760]|not provided [RCV004694790] Chr17:42543795 [GRCh38]
Chr17:40695813 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001127137]|Mucopolysaccharidosis, MPS-III-B [RCV001873512] Chr17:42544033 [GRCh38]
Chr17:40696051 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001056397] Chr17:42543436 [GRCh38]
Chr17:40695454 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.76G>T (p.Ala26Ser) single nucleotide variant Intellectual disability [RCV001252577] Chr17:42536348 [GRCh38]
Chr17:40688366 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.268C>A (p.His90Asn) single nucleotide variant Intellectual disability [RCV001252581] Chr17:42536540 [GRCh38]
Chr17:40688558 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) single nucleotide variant Intellectual disability [RCV001252579]|Mucopolysaccharidosis, MPS-III-B [RCV001879859] Chr17:42543849 [GRCh38]
Chr17:40695867 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001295061] Chr17:42537473 [GRCh38]
Chr17:40689491 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.135G>C (p.Ala45=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001278489]|Mucopolysaccharidosis, MPS-III-B [RCV003770422] Chr17:42536407 [GRCh38]
Chr17:40688425 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001264000] Chr17:42538363 [GRCh38]
Chr17:40690381 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001264001] Chr17:42538436 [GRCh38]
Chr17:40690454 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001263999] Chr17:42537448 [GRCh38]
Chr17:40689466 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001301646] Chr17:42537516 [GRCh38]
Chr17:40689534 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001305508] Chr17:42536376 [GRCh38]
Chr17:40688394 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001331107]|not specified [RCV003317478] Chr17:42538415 [GRCh38]
Chr17:40690433 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001351731]|Mucopolysaccharidosis, MPS-III-B [RCV001831175] Chr17:42544089 [GRCh38]
Chr17:40696107 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001308591] Chr17:42536511 [GRCh38]
Chr17:40688529 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001331103] Chr17:42536372 [GRCh38]
Chr17:40688390 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001422137] Chr17:42543800 [GRCh38]
Chr17:40695818 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.366C>G (p.Thr122=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001397174] Chr17:42536638 [GRCh38]
Chr17:40688656 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001414975] Chr17:42543630 [GRCh38]
Chr17:40695648 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.720A>C (p.Pro240=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001423226] Chr17:42538711 [GRCh38]
Chr17:40690729 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001414486] Chr17:42543182 [GRCh38]
Chr17:40695200 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.30_31insATCATATT (p.Gly11fs) insertion not provided [RCV001280777] Chr17:42536302..42536303 [GRCh38]
Chr17:40688320..40688321 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001412835] Chr17:42543350 [GRCh38]
Chr17:40695368 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.702C>T (p.Arg234=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001422165] Chr17:42538693 [GRCh38]
Chr17:40690711 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.417C>T (p.Ser139=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001421210] Chr17:42537431 [GRCh38]
Chr17:40689449 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001414510] Chr17:42543413 [GRCh38]
Chr17:40695431 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001396757]|NAGLU-related disorder [RCV003928881] Chr17:42543332 [GRCh38]
Chr17:40695350 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1068C>T (p.His356=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001391951] Chr17:42543074 [GRCh38]
Chr17:40695092 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001382928] Chr17:42537468 [GRCh38]
Chr17:40689486 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.114G>C (p.Arg38=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001397547] Chr17:42536386 [GRCh38]
Chr17:40688404 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001397550] Chr17:42543080 [GRCh38]
Chr17:40695098 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001396465] Chr17:42543627 [GRCh38]
Chr17:40695645 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001338536] Chr17:42536319 [GRCh38]
Chr17:40688337 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001360964] Chr17:42536549 [GRCh38]
Chr17:40688567 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001278491]|Mucopolysaccharidosis, MPS-III-B [RCV002537798] Chr17:42543448 [GRCh38]
Chr17:40695466 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001314839]|not provided [RCV004692476] Chr17:42543894 [GRCh38]
Chr17:40695912 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu) single nucleotide variant Inborn genetic diseases [RCV004639538]|Mucopolysaccharidosis, MPS-III-B [RCV001278492] Chr17:42543924 [GRCh38]
Chr17:40695942 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.28G>A (p.Val10Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001320853] Chr17:42536300 [GRCh38]
Chr17:40688318 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.145_147del (p.Ser49del) deletion Mucopolysaccharidosis, MPS-III-B [RCV001313448] Chr17:42536416..42536418 [GRCh38]
Chr17:40688434..40688436 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001361952]|Mucopolysaccharidosis, MPS-III-B [RCV001826014]|not provided [RCV004770101] Chr17:42543507 [GRCh38]
Chr17:40695525 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1980C>A (p.Asn660Lys) single nucleotide variant not provided [RCV001356528] Chr17:42543986 [GRCh38]
Chr17:40696004 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003770635]|not provided [RCV001311889] Chr17:42538691 [GRCh38]
Chr17:40690709 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001370030]|Mucopolysaccharidosis, MPS-III-B [RCV001831295] Chr17:42536495 [GRCh38]
Chr17:40688513 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001421799] Chr17:42543986 [GRCh38]
Chr17:40696004 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.678+4A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001278490]|Mucopolysaccharidosis, MPS-III-B [RCV001880265] Chr17:42538489 [GRCh38]
Chr17:40690507 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001327591] Chr17:42541033 [GRCh38]
Chr17:40693051 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001331104] Chr17:42543320 [GRCh38]
Chr17:40695338 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001331105] Chr17:42536286 [GRCh38]
Chr17:40688304 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001472915] Chr17:42544022 [GRCh38]
Chr17:40696040 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1107G>T (p.Val369=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001435519] Chr17:42543113 [GRCh38]
Chr17:40695131 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-5T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001424600] Chr17:42538665 [GRCh38]
Chr17:40690683 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001502459] Chr17:42543662 [GRCh38]
Chr17:40695680 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.543C>T (p.Ala181=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001469936] Chr17:42538350 [GRCh38]
Chr17:40690368 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.783T>C (p.Asn261=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001458322] Chr17:42540968 [GRCh38]
Chr17:40692986 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2103C>T (p.Val701=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001487728] Chr17:42544109 [GRCh38]
Chr17:40696127 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001441582] Chr17:42543296 [GRCh38]
Chr17:40695314 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001491138] Chr17:42543545 [GRCh38]
Chr17:40695563 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.732A>G (p.Ala244=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001496531]|not provided [RCV003416364] Chr17:42538723 [GRCh38]
Chr17:40690741 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.15G>T (p.Ala5=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001506417] Chr17:42536287 [GRCh38]
Chr17:40688305 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.729T>G (p.Pro243=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001451642] Chr17:42538720 [GRCh38]
Chr17:40690738 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001515196] Chr17:42543356 [GRCh38]
Chr17:40695374 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.30G>T (p.Val10=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001452100] Chr17:42536302 [GRCh38]
Chr17:40688320 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.348C>G (p.Ala116=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001480216] Chr17:42536620 [GRCh38]
Chr17:40688638 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.153G>C (p.Ser51=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001405380] Chr17:42536425 [GRCh38]
Chr17:40688443 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.265C>T (p.Leu89=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001417668] Chr17:42536537 [GRCh38]
Chr17:40688555 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.627C>G (p.Thr209=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001492841] Chr17:42538434 [GRCh38]
Chr17:40690452 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.750C>G (p.Pro250=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001431248] Chr17:42538741 [GRCh38]
Chr17:40690759 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.199C>T (p.Leu67=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001486784] Chr17:42536471 [GRCh38]
Chr17:40688489 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.777G>A (p.Gln259=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001503423] Chr17:42540962 [GRCh38]
Chr17:40692980 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001491663] Chr17:42543554 [GRCh38]
Chr17:40695572 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.141C>T (p.Asp47=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001491699] Chr17:42536413 [GRCh38]
Chr17:40688431 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.153G>T (p.Ser51=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001481140] Chr17:42536425 [GRCh38]
Chr17:40688443 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001440083] Chr17:42543692 [GRCh38]
Chr17:40695710 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.108G>T (p.Val36=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001485817] Chr17:42536380 [GRCh38]
Chr17:40688398 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.136del (p.Ala46fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001383917] Chr17:42536407 [GRCh38]
Chr17:40688425 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.732A>C (p.Ala244=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001501004] Chr17:42538723 [GRCh38]
Chr17:40690741 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001463569] Chr17:42543890 [GRCh38]
Chr17:40695908 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.27G>T (p.Ala9=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001493640] Chr17:42536299 [GRCh38]
Chr17:40688317 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=) single nucleotide variant Inborn genetic diseases [RCV004038235]|Mucopolysaccharidosis, MPS-III-B [RCV001426151] Chr17:42544130 [GRCh38]
Chr17:40696148 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.270C>T (p.His90=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001438652] Chr17:42536542 [GRCh38]
Chr17:40688560 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1453dup (p.Val485fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV001380522] Chr17:42543455..42543456 [GRCh38]
Chr17:40695473..40695474 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001394278] Chr17:42543206 [GRCh38]
Chr17:40695224 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001409641] Chr17:42543548 [GRCh38]
Chr17:40695566 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.957A>T (p.Pro319=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001425375] Chr17:42541142 [GRCh38]
Chr17:40693160 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.123G>T (p.Gly41=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001404864] Chr17:42536395 [GRCh38]
Chr17:40688413 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001418639] Chr17:42543155 [GRCh38]
Chr17:40695173 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001409735] Chr17:42543305 [GRCh38]
Chr17:40695323 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001446643] Chr17:42543314 [GRCh38]
Chr17:40695332 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1224C>T (p.His408=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001446439] Chr17:42543230 [GRCh38]
Chr17:40695248 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.345A>G (p.Pro115=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001410131] Chr17:42536617 [GRCh38]
Chr17:40688635 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001439797] Chr17:42543707 [GRCh38]
Chr17:40695725 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.18G>C (p.Val6=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001418123] Chr17:42536290 [GRCh38]
Chr17:40688308 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001444288] Chr17:42543794 [GRCh38]
Chr17:40695812 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001425058] Chr17:42543650 [GRCh38]
Chr17:40695668 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001430653] Chr17:42543956 [GRCh38]
Chr17:40695974 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-8G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001449460] Chr17:42537390 [GRCh38]
Chr17:40689408 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001444523] Chr17:42543311 [GRCh38]
Chr17:40695329 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001383909] Chr17:42537446 [GRCh38]
Chr17:40689464 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.474G>T (p.Ala158=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001408370] Chr17:42537488 [GRCh38]
Chr17:40689506 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001542299] Chr17:42543312 [GRCh38]
Chr17:40695330 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001390366] Chr17:42538410 [GRCh38]
Chr17:40690428 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.255C>T (p.Ala85=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001423993] Chr17:42536527 [GRCh38]
Chr17:40688545 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.648C>G (p.Pro216=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001434608] Chr17:42538455 [GRCh38]
Chr17:40690473 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.78C>G (p.Ala26=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001431652] Chr17:42536350 [GRCh38]
Chr17:40688368 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001436614] Chr17:42543834 [GRCh38]
Chr17:40695852 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.801T>C (p.Ser267=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001427153] Chr17:42540986 [GRCh38]
Chr17:40693004 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001408729] Chr17:42544226 [GRCh38]
Chr17:40696244 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.459G>A (p.Glu153=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001393678] Chr17:42537473 [GRCh38]
Chr17:40689491 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001378698] Chr17:42543087 [GRCh38]
Chr17:40695105 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001429833] Chr17:42543776 [GRCh38]
Chr17:40695794 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.984C>T (p.Ala328=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001403016] Chr17:42541169 [GRCh38]
Chr17:40693187 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.366C>A (p.Thr122=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001394237] Chr17:42536638 [GRCh38]
Chr17:40688656 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.273C>T (p.Arg91=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001485527] Chr17:42536545 [GRCh38]
Chr17:40688563 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001499055] Chr17:42543353 [GRCh38]
Chr17:40695371 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-10C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001450502] Chr17:42537388 [GRCh38]
Chr17:40689406 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001450561] Chr17:42543095 [GRCh38]
Chr17:40695113 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001450785] Chr17:42543611 [GRCh38]
Chr17:40695629 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.531+76A>G single nucleotide variant not provided [RCV001541265] Chr17:42537621 [GRCh38]
Chr17:40689639 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002564261]|not provided [RCV001508802]|not specified [RCV004587172] Chr17:42543088 [GRCh38]
Chr17:40695106 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001454471] Chr17:42543638 [GRCh38]
Chr17:40695656 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-78G>C single nucleotide variant not provided [RCV001684379] Chr17:42538592 [GRCh38]
Chr17:40690610 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.789G>A (p.Thr263=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001458439] Chr17:42540974 [GRCh38]
Chr17:40692992 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.228G>A (p.Arg76=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001454907] Chr17:42536500 [GRCh38]
Chr17:40688518 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001499813] Chr17:42536548 [GRCh38]
Chr17:40688566 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-21C>T single nucleotide variant not provided [RCV001649462] Chr17:42538649 [GRCh38]
Chr17:40690667 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001451927] Chr17:42543338 [GRCh38]
Chr17:40695356 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.897G>T (p.Leu299=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001477519] Chr17:42541082 [GRCh38]
Chr17:40693100 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001470843] Chr17:42543728 [GRCh38]
Chr17:40695746 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001456526]|Mucopolysaccharidosis, MPS-III-B [RCV001826281] Chr17:42543443 [GRCh38]
Chr17:40695461 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-184G>C single nucleotide variant not provided [RCV001654265] Chr17:42537214 [GRCh38]
Chr17:40689232 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.532-96A>G single nucleotide variant not provided [RCV001687431] Chr17:42538243 [GRCh38]
Chr17:40690261 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.147C>T (p.Ser49=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001498477] Chr17:42536419 [GRCh38]
Chr17:40688437 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.933C>T (p.Ala311=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001501508] Chr17:42541118 [GRCh38]
Chr17:40693136 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001481335] Chr17:42543998 [GRCh38]
Chr17:40696016 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001390490] Chr17:42536338..42536354 [GRCh38]
Chr17:40688356..40688372 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.894G>A (p.Glu298=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001495558] Chr17:42541079 [GRCh38]
Chr17:40693097 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.831C>T (p.Cys277=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001497859] Chr17:42541016 [GRCh38]
Chr17:40693034 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001425197]|NAGLU-related disorder [RCV003920923] Chr17:42543845 [GRCh38]
Chr17:40695863 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.198C>T (p.Ser66=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001459548] Chr17:42536470 [GRCh38]
Chr17:40688488 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1021+15T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001510097] Chr17:42541221 [GRCh38]
Chr17:40693239 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.69C>G (p.Gly23=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001457620] Chr17:42536341 [GRCh38]
Chr17:40688359 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.105C>T (p.Leu35=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001454216] Chr17:42536377 [GRCh38]
Chr17:40688395 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.120G>T (p.Leu40=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001498254] Chr17:42536392 [GRCh38]
Chr17:40688410 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.340C>T (p.Leu114=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001471355] Chr17:42536612 [GRCh38]
Chr17:40688630 [GRCh37]
Chr17:17q21.2
likely benign
NC_000017.10:g.(?_40690347)_(40690783_?)del deletion Mucopolysaccharidosis, MPS-III-B [RCV001381800] Chr17:40690347..40690783 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001481928] Chr17:42543215 [GRCh38]
Chr17:40695233 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.909T>C (p.Phe303=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001440425]|not provided [RCV001532301] Chr17:42541094 [GRCh38]
Chr17:40693112 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001378696]|Mucopolysaccharidosis, MPS-III-B [RCV001831358] Chr17:42537471 [GRCh38]
Chr17:40689489 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001419568] Chr17:42543329 [GRCh38]
Chr17:40695347 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001389201] Chr17:42543168 [GRCh38]
Chr17:40695186 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001440791] Chr17:42543239 [GRCh38]
Chr17:40695257 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001434560]|not provided [RCV004704554] Chr17:42543458 [GRCh38]
Chr17:40695476 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV001380076] Chr17:42536320..42536321 [GRCh38]
Chr17:40688338..40688339 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1021+8G>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001443687] Chr17:42541214 [GRCh38]
Chr17:40693232 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001441061] Chr17:42543392 [GRCh38]
Chr17:40695410 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.532-1G>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001379037] Chr17:42538338 [GRCh38]
Chr17:40690356 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup) duplication Mucopolysaccharidosis, MPS-III-B [RCV001377344]|NAGLU-related disorder [RCV003416297] Chr17:42536480..42536481 [GRCh38]
Chr17:40688498..40688499 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1890C>G (p.Val630=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001438805] Chr17:42543896 [GRCh38]
Chr17:40695914 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.219G>A (p.Ala73=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001393642] Chr17:42536491 [GRCh38]
Chr17:40688509 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001394032]|not provided [RCV001700738] Chr17:42543911 [GRCh38]
Chr17:40695929 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.735C>T (p.Phe245=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001462277] Chr17:42538726 [GRCh38]
Chr17:40690744 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-5C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001427084] Chr17:42537393 [GRCh38]
Chr17:40689411 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.222_223del (p.Val75fs) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV001380662] Chr17:42536489..42536490 [GRCh38]
Chr17:40688507..40688508 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001428396]|not specified [RCV004699378] Chr17:42543130 [GRCh38]
Chr17:40695148 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+10C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001482542] Chr17:42536665 [GRCh38]
Chr17:40688683 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001466909]|not provided [RCV003883656] Chr17:42544061 [GRCh38]
Chr17:40696079 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.183C>G (p.Gly61=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001417296] Chr17:42536455 [GRCh38]
Chr17:40688473 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.678+1G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002238562] Chr17:42538486 [GRCh38]
Chr17:40690504 [GRCh37]
Chr17:17q21.2
pathogenic
NC_000017.10:g.(?_40689396)_(40690793_?)del deletion Mucopolysaccharidosis, MPS-III-B [RCV003109257] Chr17:40689396..40690793 [GRCh37]
Chr17:17q21.2
pathogenic
NC_000017.10:g.(?_40688291)_(40729741_?)dup duplication Mucopolysaccharidosis, MPS-III-B [RCV003109258] Chr17:40688291..40729741 [GRCh37]
Chr17:17q21.2
uncertain significance
NC_000017.10:g.(?_40690337)_(40690793_?)del deletion Mucopolysaccharidosis, MPS-III-B [RCV003109259] Chr17:40690337..40690793 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.384-10C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001882851]|not provided [RCV001754503] Chr17:42537388 [GRCh38]
Chr17:40689406 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001885164]|not provided [RCV001784706] Chr17:42544051 [GRCh38]
Chr17:40696069 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001868420]|not provided [RCV001763492] Chr17:42538400 [GRCh38]
Chr17:40690418 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002227558]|not provided [RCV001782496] Chr17:42543681 [GRCh38]
Chr17:40695699 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.203GCG[3] (p.Gly71del) microsatellite not specified [RCV001797874] Chr17:42536474..42536476 [GRCh38]
Chr17:40688492..40688494 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.765-1G>C single nucleotide variant not provided [RCV001784704] Chr17:42540949 [GRCh38]
Chr17:40692967 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1738_1744dup (p.Ala582fs) duplication Abnormality of metabolism/homeostasis [RCV001814558] Chr17:42543743..42543744 [GRCh38]
Chr17:40695761..40695762 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.384-3C>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001806383]|Mucopolysaccharidosis, MPS-III-B [RCV001869568]|not provided [RCV003136165] Chr17:42537395 [GRCh38]
Chr17:40689413 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001950013] Chr17:42543898 [GRCh38]
Chr17:40695916 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002021444] Chr17:42536349 [GRCh38]
Chr17:40688367 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001930105] Chr17:42543649 [GRCh38]
Chr17:40695667 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001915561] Chr17:42536448 [GRCh38]
Chr17:40688466 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002025052] Chr17:42537432 [GRCh38]
Chr17:40689450 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001971750] Chr17:42538433 [GRCh38]
Chr17:40690451 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002044724] Chr17:42543795 [GRCh38]
Chr17:40695813 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001908116] Chr17:42543335 [GRCh38]
Chr17:40695353 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002025306] Chr17:42541009 [GRCh38]
Chr17:40693027 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002002717] Chr17:42544130 [GRCh38]
Chr17:40696148 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001970854] Chr17:42541110 [GRCh38]
Chr17:40693128 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001896670] Chr17:42543138 [GRCh38]
Chr17:40695156 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001988254] Chr17:42537451 [GRCh38]
Chr17:40689469 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.713del (p.Met238fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001895807] Chr17:42538704 [GRCh38]
Chr17:40690722 [GRCh37]
Chr17:17q21.2
pathogenic
NC_000017.10:g.(?_40688291)_(40690793_?)dup duplication Mucopolysaccharidosis, MPS-III-B [RCV001871488] Chr17:40688291..40690793 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002042267] Chr17:42538700 [GRCh38]
Chr17:40690718 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.222C>G (p.Arg74=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001947169] Chr17:42536494 [GRCh38]
Chr17:40688512 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002022951] Chr17:42543607 [GRCh38]
Chr17:40695625 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001912744] Chr17:42538728 [GRCh38]
Chr17:40690746 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001983523] Chr17:42543190 [GRCh38]
Chr17:40695208 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001891611] Chr17:42543135 [GRCh38]
Chr17:40695153 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp) single nucleotide variant Inborn genetic diseases [RCV002579529]|Mucopolysaccharidosis, MPS-III-B [RCV002021965] Chr17:42538673 [GRCh38]
Chr17:40690691 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2V [RCV002221635]|Mucopolysaccharidosis, MPS-III-B [RCV001861029] Chr17:42537544 [GRCh38]
Chr17:40689562 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001985419] Chr17:42543515 [GRCh38]
Chr17:40695533 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001844476] Chr17:42537421..42537424 [GRCh38]
Chr17:40689439..40689442 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001984195] Chr17:42536583 [GRCh38]
Chr17:40688601 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.379A>C (p.Asn127His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001967509] Chr17:42536651 [GRCh38]
Chr17:40688669 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001894535] Chr17:42536448 [GRCh38]
Chr17:40688466 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001890960] Chr17:42538674 [GRCh38]
Chr17:40690692 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002005475] Chr17:42543283 [GRCh38]
Chr17:40695301 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001969925] Chr17:42537517 [GRCh38]
Chr17:40689535 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001969946] Chr17:42543565 [GRCh38]
Chr17:40695583 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001908440] Chr17:42543112 [GRCh38]
Chr17:40695130 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001914104] Chr17:42543688 [GRCh38]
Chr17:40695706 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.115_122del (p.Leu39fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001946248] Chr17:42536385..42536392 [GRCh38]
Chr17:40688403..40688410 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001928664] Chr17:42543184 [GRCh38]
Chr17:40695202 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.326G>A (p.Arg109His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001895477] Chr17:42536598 [GRCh38]
Chr17:40688616 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001913835] Chr17:42543576 [GRCh38]
Chr17:40695594 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002043424] Chr17:42541060 [GRCh38]
Chr17:40693078 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV002007460] Chr17:42543819..42543820 [GRCh38]
Chr17:40695837..40695838 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2V [RCV003319997]|Mucopolysaccharidosis, MPS-III-B [RCV001985079] Chr17:42543310 [GRCh38]
Chr17:40695328 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001837210] Chr17:42544059 [GRCh38]
Chr17:40696077 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1021+1G>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001825122] Chr17:42541207 [GRCh38]
Chr17:40693225 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002543298]|not specified [RCV001844477] Chr17:42538748 [GRCh38]
Chr17:40690766 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002005580] Chr17:42543491 [GRCh38]
Chr17:40695509 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001986356] Chr17:42538694 [GRCh38]
Chr17:40690712 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001985221] Chr17:42544021 [GRCh38]
Chr17:40696039 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001893693] Chr17:42536616 [GRCh38]
Chr17:40688634 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002022742] Chr17:42543688 [GRCh38]
Chr17:40695706 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001948572] Chr17:42536349 [GRCh38]
Chr17:40688367 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002021355] Chr17:42543919 [GRCh38]
Chr17:40695937 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.610A>G (p.Met204Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001965404] Chr17:42538417 [GRCh38]
Chr17:40690435 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001967204] Chr17:42537455 [GRCh38]
Chr17:40689473 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002037580]|not specified [RCV004690144] Chr17:42541126 [GRCh38]
Chr17:40693144 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del) deletion Mucopolysaccharidosis, MPS-III-B [RCV001962390] Chr17:42538678..42538683 [GRCh38]
Chr17:40690696..40690701 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.383+5C>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001887214] Chr17:42536660 [GRCh38]
Chr17:40688678 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001906752] Chr17:42537401 [GRCh38]
Chr17:40689419 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001962851] Chr17:42543469 [GRCh38]
Chr17:40695487 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001944646] Chr17:42544228 [GRCh38]
Chr17:40696246 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.59dup (p.Ala21fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV001922252] Chr17:42536326..42536327 [GRCh38]
Chr17:40688344..40688345 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.532-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002001268] Chr17:42538338 [GRCh38]
Chr17:40690356 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001939409] Chr17:42536521..42536534 [GRCh38]
Chr17:40688539..40688552 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001944084] Chr17:42537539 [GRCh38]
Chr17:40689557 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001924339] Chr17:42541131 [GRCh38]
Chr17:40693149 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.222_247del (p.Val75fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001953475] Chr17:42536491..42536516 [GRCh38]
Chr17:40688509..40688534 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001888685] Chr17:42543496 [GRCh38]
Chr17:40695514 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1896G>A (p.Glu632=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001888717] Chr17:42543902 [GRCh38]
Chr17:40695920 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.192del (p.Tyr65fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001963100] Chr17:42536463 [GRCh38]
Chr17:40688481 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001888772] Chr17:42544197 [GRCh38]
Chr17:40696215 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV001904871] Chr17:42543178..42543179 [GRCh38]
Chr17:40695196..40695197 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer) deletion Mucopolysaccharidosis, MPS-III-B [RCV001888331] Chr17:42543779 [GRCh38]
Chr17:40695797 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.648del (p.Ser217fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV002000089] Chr17:42538450 [GRCh38]
Chr17:40690468 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001982591] Chr17:42544038 [GRCh38]
Chr17:40696056 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.820del (p.Ser274fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001885892] Chr17:42541004 [GRCh38]
Chr17:40693022 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001992328] Chr17:42543828 [GRCh38]
Chr17:40695846 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met) indel Mucopolysaccharidosis, MPS-III-B [RCV001993707] Chr17:42537488..42537489 [GRCh38]
Chr17:40689506..40689507 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002016191] Chr17:42543936 [GRCh38]
Chr17:40695954 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.383+5C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001916570] Chr17:42536660 [GRCh38]
Chr17:40688678 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001919448] Chr17:42543789 [GRCh38]
Chr17:40695807 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001994441] Chr17:42536486 [GRCh38]
Chr17:40688504 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001955994]|not specified [RCV004526886] Chr17:42543859 [GRCh38]
Chr17:40695877 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001937130] Chr17:42543467 [GRCh38]
Chr17:40695485 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002050864] Chr17:42543136 [GRCh38]
Chr17:40695154 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002012023] Chr17:42538736 [GRCh38]
Chr17:40690754 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001915609] Chr17:42536534 [GRCh38]
Chr17:40688552 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001881795] Chr17:42538354 [GRCh38]
Chr17:40690372 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.640dup (p.Leu214fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV001876710] Chr17:42538442..42538443 [GRCh38]
Chr17:40690460..40690461 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001935470] Chr17:42537522 [GRCh38]
Chr17:40689540 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001899750] Chr17:42543459 [GRCh38]
Chr17:40695477 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002011022] Chr17:42543148 [GRCh38]
Chr17:40695166 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001951172] Chr17:42541138..42541142 [GRCh38]
Chr17:40693156..40693160 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1460dup (p.His487fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV001934592] Chr17:42543465..42543466 [GRCh38]
Chr17:40695483..40695484 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001993306] Chr17:42536586..42536592 [GRCh38]
Chr17:40688604..40688610 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001921559] Chr17:42536460 [GRCh38]
Chr17:40688478 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001993097] Chr17:42536304 [GRCh38]
Chr17:40688322 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2004C>T (p.Ala668=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001951274] Chr17:42544010 [GRCh38]
Chr17:40696028 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001990693]|not provided [RCV003490982] Chr17:42543034 [GRCh38]
Chr17:40695052 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002012718] Chr17:42544082 [GRCh38]
Chr17:40696100 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001921053] Chr17:42536549 [GRCh38]
Chr17:40688567 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1336del (p.Glu446fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV001972426] Chr17:42543342 [GRCh38]
Chr17:40695360 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002051340] Chr17:42543954 [GRCh38]
Chr17:40695972 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002049012] Chr17:42536484 [GRCh38]
Chr17:40688502 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001917729] Chr17:42543666 [GRCh38]
Chr17:40695684 [GRCh37]
Chr17:17q21.2
uncertain significance
NC_000017.10:g.(?_40688281)_(40693234_?)del deletion Mucopolysaccharidosis, MPS-III-B [RCV001975237] Chr17:40688281..40693234 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp) single nucleotide variant Inborn genetic diseases [RCV002561369]|Mucopolysaccharidosis, MPS-III-B [RCV001931226] Chr17:42536475 [GRCh38]
Chr17:40688493 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001919272]|not provided [RCV002221691]|not specified [RCV003317549] Chr17:42543447 [GRCh38]
Chr17:40695465 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001976725] Chr17:42536465 [GRCh38]
Chr17:40688483 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001922586] Chr17:42541075 [GRCh38]
Chr17:40693093 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001996513] Chr17:42544074 [GRCh38]
Chr17:40696092 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001906421] Chr17:42543750 [GRCh38]
Chr17:40695768 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001880459] Chr17:42543864 [GRCh38]
Chr17:40695882 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr) single nucleotide variant Inborn genetic diseases [RCV002561385]|Mucopolysaccharidosis, MPS-III-B [RCV001936171] Chr17:42543480 [GRCh38]
Chr17:40695498 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001937969] Chr17:42543716 [GRCh38]
Chr17:40695734 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002051116] Chr17:42543198 [GRCh38]
Chr17:40695216 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001936315] Chr17:42538454 [GRCh38]
Chr17:40690472 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001900931] Chr17:42544137 [GRCh38]
Chr17:40696155 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001937343] Chr17:42536280 [GRCh38]
Chr17:40688298 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001883427] Chr17:42543291 [GRCh38]
Chr17:40695309 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001988942] Chr17:42543784 [GRCh38]
Chr17:40695802 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV002030058] Chr17:42544175..42544176 [GRCh38]
Chr17:40696193..40696194 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002032121] Chr17:42540972 [GRCh38]
Chr17:40692990 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001974674] Chr17:42544115 [GRCh38]
Chr17:40696133 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001951137] Chr17:42536580 [GRCh38]
Chr17:40688598 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.60C>T (p.Gly20=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001898662] Chr17:42536332 [GRCh38]
Chr17:40688350 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser) single nucleotide variant Inborn genetic diseases [RCV002547945]|Mucopolysaccharidosis, MPS-III-B [RCV001878270] Chr17:42538424 [GRCh38]
Chr17:40690442 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002011260] Chr17:42544170 [GRCh38]
Chr17:40696188 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001934610] Chr17:42544091 [GRCh38]
Chr17:40696109 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002014991] Chr17:42538383 [GRCh38]
Chr17:40690401 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001897479] Chr17:42538755 [GRCh38]
Chr17:40690773 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001959575] Chr17:42537469 [GRCh38]
Chr17:40689487 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001939506] Chr17:42538414 [GRCh38]
Chr17:40690432 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001975040] Chr17:42536275 [GRCh38]
Chr17:40688293 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001978319] Chr17:42543886 [GRCh38]
Chr17:40695904 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002017549] Chr17:42543705 [GRCh38]
Chr17:40695723 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser) single nucleotide variant Inborn genetic diseases [RCV003382733]|Mucopolysaccharidosis, MPS-III-B [RCV001957451] Chr17:42536279 [GRCh38]
Chr17:40688297 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001978497]|not specified [RCV004770352] Chr17:42536375 [GRCh38]
Chr17:40688393 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.642dup (p.Pro215fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV001953487] Chr17:42538448..42538449 [GRCh38]
Chr17:40690466..40690467 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001883851]|not specified [RCV004587234] Chr17:42537406 [GRCh38]
Chr17:40689424 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001991581] Chr17:42543537 [GRCh38]
Chr17:40695555 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu) single nucleotide variant Inborn genetic diseases [RCV004651767]|Mucopolysaccharidosis, MPS-III-B [RCV001900588] Chr17:42543667 [GRCh38]
Chr17:40695685 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002036329] Chr17:42544227 [GRCh38]
Chr17:40696245 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001979726] Chr17:42536298 [GRCh38]
Chr17:40688316 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002017278] Chr17:42536604 [GRCh38]
Chr17:40688622 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002018528] Chr17:42541111 [GRCh38]
Chr17:40693129 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001925056] Chr17:42538411 [GRCh38]
Chr17:40690429 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001925992] Chr17:42543792 [GRCh38]
Chr17:40695810 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001877206] Chr17:42541044 [GRCh38]
Chr17:40693062 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001932143] Chr17:42543973 [GRCh38]
Chr17:40695991 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001993530] Chr17:42544215 [GRCh38]
Chr17:40696233 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001897232] Chr17:42543411 [GRCh38]
Chr17:40695429 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002015294] Chr17:42541125 [GRCh38]
Chr17:40693143 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002046180] Chr17:42544098 [GRCh38]
Chr17:40696116 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001934186] Chr17:42544207 [GRCh38]
Chr17:40696225 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001936239] Chr17:42536381 [GRCh38]
Chr17:40688399 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001976885] Chr17:42543324 [GRCh38]
Chr17:40695342 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001903169] Chr17:42543709 [GRCh38]
Chr17:40695727 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV001951307] Chr17:42538428..42538429 [GRCh38]
Chr17:40690446..40690447 [GRCh37]
Chr17:17q21.2
pathogenic
NC_000017.10:g.(?_40690337)_(40690793_?)dup duplication Mucopolysaccharidosis, MPS-III-B [RCV001989374] Chr17:40690337..40690793 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV001917246] Chr17:42536473..42536474 [GRCh38]
Chr17:40688491..40688492 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV001978320]|not specified [RCV004526169] Chr17:42543816 [GRCh38]
Chr17:40695834 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.843G>C (p.Leu281=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002075490] Chr17:42541028 [GRCh38]
Chr17:40693046 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.999C>T (p.Ala333=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002169908] Chr17:42541184 [GRCh38]
Chr17:40693202 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.261G>C (p.Ala87=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002085694] Chr17:42536533 [GRCh38]
Chr17:40688551 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.642G>A (p.Leu214=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002205848] Chr17:42538449 [GRCh38]
Chr17:40690467 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1021+15T>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002168790] Chr17:42541221 [GRCh38]
Chr17:40693239 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002085778] Chr17:42541202 [GRCh38]
Chr17:40693220 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.180G>C (p.Pro60=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002087531] Chr17:42536452 [GRCh38]
Chr17:40688470 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.231G>C (p.Val77=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002168985] Chr17:42536503 [GRCh38]
Chr17:40688521 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.531+9C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002188040] Chr17:42537554 [GRCh38]
Chr17:40689572 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.531+10C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002111301] Chr17:42537555 [GRCh38]
Chr17:40689573 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.489C>T (p.Asn163=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002165603] Chr17:42537503 [GRCh38]
Chr17:40689521 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.888G>A (p.Leu296=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002191660] Chr17:42541073 [GRCh38]
Chr17:40693091 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.657C>T (p.His219=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002206665] Chr17:42538464 [GRCh38]
Chr17:40690482 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1890C>T (p.Val630=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002207111] Chr17:42543896 [GRCh38]
Chr17:40695914 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.765-4C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002112323] Chr17:42540946 [GRCh38]
Chr17:40692964 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1797C>T (p.Ala599=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002192569] Chr17:42543803 [GRCh38]
Chr17:40695821 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-15C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002108566] Chr17:42538655 [GRCh38]
Chr17:40690673 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+12C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002090607] Chr17:42538767 [GRCh38]
Chr17:40690785 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002187000] Chr17:42543506 [GRCh38]
Chr17:40695524 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002190790] Chr17:42543263 [GRCh38]
Chr17:40695281 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1022-20C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002105775] Chr17:42543008 [GRCh38]
Chr17:40695026 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002105865] Chr17:42543752 [GRCh38]
Chr17:40695770 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1779G>A (p.Arg593=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002207649] Chr17:42543785 [GRCh38]
Chr17:40695803 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.807C>T (p.Gly269=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002108106] Chr17:42540992 [GRCh38]
Chr17:40693010 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.87G>A (p.Ala29=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002209492] Chr17:42536359 [GRCh38]
Chr17:40688377 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1269G>A (p.Val423=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002167088] Chr17:42543275 [GRCh38]
Chr17:40695293 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+11G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002147233] Chr17:42536666 [GRCh38]
Chr17:40688684 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1022-10C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002107712] Chr17:42543018 [GRCh38]
Chr17:40695036 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.201G>A (p.Leu67=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002144859] Chr17:42536473 [GRCh38]
Chr17:40688491 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.147C>G (p.Ser49=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002209956] Chr17:42536419 [GRCh38]
Chr17:40688437 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2157G>T (p.Pro719=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002185742] Chr17:42544163 [GRCh38]
Chr17:40696181 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.258C>G (p.Ala86=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002086226] Chr17:42536530 [GRCh38]
Chr17:40688548 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.354G>C (p.Pro118=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002188812] Chr17:42536626 [GRCh38]
Chr17:40688644 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.531+12C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002148623] Chr17:42537557 [GRCh38]
Chr17:40689575 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.267G>A (p.Leu89=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002196097] Chr17:42536539 [GRCh38]
Chr17:40688557 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.768G>A (p.Val256=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002165398] Chr17:42540953 [GRCh38]
Chr17:40692971 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-16A>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002117039] Chr17:42537382 [GRCh38]
Chr17:40689400 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1287T>G (p.Ala429=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002195020] Chr17:42543293 [GRCh38]
Chr17:40695311 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.315C>G (p.Gly105=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002215373] Chr17:42536587 [GRCh38]
Chr17:40688605 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1771C>T (p.Leu591=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002104362] Chr17:42543777 [GRCh38]
Chr17:40695795 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2043G>T (p.Ala681=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002165590] Chr17:42544049 [GRCh38]
Chr17:40696067 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002170307] Chr17:42543686 [GRCh38]
Chr17:40695704 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.138C>A (p.Ala46=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002194798] Chr17:42536410 [GRCh38]
Chr17:40688428 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+15A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002211924] Chr17:42538770 [GRCh38]
Chr17:40690788 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.756T>G (p.Ala252=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002088122] Chr17:42538747 [GRCh38]
Chr17:40690765 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.177G>A (p.Lys59=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002132613] Chr17:42536449 [GRCh38]
Chr17:40688467 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.321G>A (p.Gln107=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002076950] Chr17:42536593 [GRCh38]
Chr17:40688611 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+19C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002131017] Chr17:42538774 [GRCh38]
Chr17:40690792 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.54C>G (p.Ala18=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002134709] Chr17:42536326 [GRCh38]
Chr17:40688344 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1047C>A (p.Leu349=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002194075] Chr17:42543053 [GRCh38]
Chr17:40695071 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.115C>T (p.Leu39=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002149751] Chr17:42536387 [GRCh38]
Chr17:40688405 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.90G>A (p.Ala30=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002133150] Chr17:42536362 [GRCh38]
Chr17:40688380 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1996T>C (p.Leu666=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002185504] Chr17:42544002 [GRCh38]
Chr17:40696020 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002080843] Chr17:42543812 [GRCh38]
Chr17:40695830 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.99G>A (p.Arg33=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002073871] Chr17:42536371 [GRCh38]
Chr17:40688389 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1089C>G (p.Pro363=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002210863] Chr17:42543095 [GRCh38]
Chr17:40695113 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2013C>T (p.Tyr671=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002107365] Chr17:42544019 [GRCh38]
Chr17:40696037 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.132C>G (p.Pro44=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002097272] Chr17:42536404 [GRCh38]
Chr17:40688422 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.411G>A (p.Thr137=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002117177] Chr17:42537425 [GRCh38]
Chr17:40689443 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1533C>T (p.Gly511=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002089160] Chr17:42543539 [GRCh38]
Chr17:40695557 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002149249] Chr17:42543680 [GRCh38]
Chr17:40695698 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+19C>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002112881] Chr17:42538774 [GRCh38]
Chr17:40690792 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.9G>A (p.Ala3=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002205694] Chr17:42536281 [GRCh38]
Chr17:40688299 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.294C>T (p.Gly98=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002133900] Chr17:42536566 [GRCh38]
Chr17:40688584 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.792G>A (p.Lys264=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002166299] Chr17:42540977 [GRCh38]
Chr17:40692995 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1023G>T (p.Val341=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002088701] Chr17:42543029 [GRCh38]
Chr17:40695047 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.126A>G (p.Pro42=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002079725] Chr17:42536398 [GRCh38]
Chr17:40688416 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.339A>T (p.Pro113=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002151998] Chr17:42536611 [GRCh38]
Chr17:40688629 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.741G>C (p.Gly247=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002095005] Chr17:42538732 [GRCh38]
Chr17:40690750 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2218G>C (p.Ala740Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002127141] Chr17:42544224 [GRCh38]
Chr17:40696242 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.720A>T (p.Pro240=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002194547] Chr17:42538711 [GRCh38]
Chr17:40690729 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002138905] Chr17:42543887 [GRCh38]
Chr17:40695905 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.168G>C (p.Leu56=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002201126] Chr17:42536440 [GRCh38]
Chr17:40688458 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.282C>G (p.Arg94=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002101726] Chr17:42536554 [GRCh38]
Chr17:40688572 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2106C>T (p.Phe702=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002159465] Chr17:42544112 [GRCh38]
Chr17:40696130 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.144C>T (p.Phe48=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002155574] Chr17:42536416 [GRCh38]
Chr17:40688434 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.381C>T (p.Asn127=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002154663] Chr17:42536653 [GRCh38]
Chr17:40688671 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1110G>A (p.Leu370=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002156683] Chr17:42543116 [GRCh38]
Chr17:40695134 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1965C>A (p.Ile655=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002160391] Chr17:42543971 [GRCh38]
Chr17:40695989 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002136265] Chr17:42543377 [GRCh38]
Chr17:40695395 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.51G>A (p.Gly17=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002160575] Chr17:42536323 [GRCh38]
Chr17:40688341 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002156810] Chr17:42543317 [GRCh38]
Chr17:40695335 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002219601] Chr17:42544028 [GRCh38]
Chr17:40696046 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.342G>A (p.Leu114=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002178147] Chr17:42536614 [GRCh38]
Chr17:40688632 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-8G>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002199119] Chr17:42537390 [GRCh38]
Chr17:40689408 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.645C>T (p.Pro215=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002218211] Chr17:42538452 [GRCh38]
Chr17:40690470 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.618C>T (p.Asn206=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002140938] Chr17:42538425 [GRCh38]
Chr17:40690443 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.532-11T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002197736] Chr17:42538328 [GRCh38]
Chr17:40690346 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002083425] Chr17:42543518 [GRCh38]
Chr17:40695536 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2169T>C (p.Thr723=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002218939] Chr17:42544175 [GRCh38]
Chr17:40696193 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-4G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002163768] Chr17:42537394 [GRCh38]
Chr17:40689412 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+10C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002163794] Chr17:42536665 [GRCh38]
Chr17:40688683 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.678+8G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002154900] Chr17:42538493 [GRCh38]
Chr17:40690511 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.57G>A (p.Gly19=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002160815] Chr17:42536329 [GRCh38]
Chr17:40688347 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1368C>T (p.Ser456=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002156897] Chr17:42543374 [GRCh38]
Chr17:40695392 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.619C>T (p.Leu207=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002164331] Chr17:42538426 [GRCh38]
Chr17:40690444 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002099623] Chr17:42544202 [GRCh38]
Chr17:40696220 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+20C>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002140458] Chr17:42536675 [GRCh38]
Chr17:40688693 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002184737] Chr17:42543443 [GRCh38]
Chr17:40695461 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.288C>T (p.Phe96=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002098430] Chr17:42536560 [GRCh38]
Chr17:40688578 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+11G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002103845] Chr17:42538766 [GRCh38]
Chr17:40690784 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.111C>G (p.Ala37=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002183020] Chr17:42536383 [GRCh38]
Chr17:40688401 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.387C>T (p.Tyr129=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002104069] Chr17:42537401 [GRCh38]
Chr17:40689419 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.987A>G (p.Ala329=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002198949] Chr17:42541172 [GRCh38]
Chr17:40693190 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+8T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002181624] Chr17:42538763 [GRCh38]
Chr17:40690781 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.180G>A (p.Pro60=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002138602] Chr17:42536452 [GRCh38]
Chr17:40688470 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1022-8G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002180684] Chr17:42543020 [GRCh38]
Chr17:40695038 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002161492] Chr17:42543495 [GRCh38]
Chr17:40695513 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.765-16T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002197905] Chr17:42540934 [GRCh38]
Chr17:40692952 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1188C>T (p.Ser396=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002203209] Chr17:42543194 [GRCh38]
Chr17:40695212 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1022-4A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002183169] Chr17:42543024 [GRCh38]
Chr17:40695042 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.327C>T (p.Arg109=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002158066] Chr17:42536599 [GRCh38]
Chr17:40688617 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1767C>T (p.Ala589=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002183664] Chr17:42543773 [GRCh38]
Chr17:40695791 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1671C>A (p.Arg557=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002136137] Chr17:42543677 [GRCh38]
Chr17:40695695 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.542C>A (p.Ala181Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002098819] Chr17:42538349 [GRCh38]
Chr17:40690367 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1044G>T (p.Leu348=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002156676] Chr17:42543050 [GRCh38]
Chr17:40695068 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003115546] Chr17:42543279 [GRCh38]
Chr17:40695297 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003115663]|not provided [RCV004763594] Chr17:42537432 [GRCh38]
Chr17:40689450 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1182del (p.Ala395fs) deletion not provided [RCV003130972] Chr17:42543188 [GRCh38]
Chr17:40695206 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.229_236del (p.Val77fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV002271923] Chr17:42536497..42536504 [GRCh38]
Chr17:40688515..40688522 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.2038_2050del (p.Glu680fs) deletion not provided [RCV003130974] Chr17:42544042..42544054 [GRCh38]
Chr17:40696060..40696072 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.2128C>G (p.Leu710Val) single nucleotide variant not provided [RCV002261568] Chr17:42544134 [GRCh38]
Chr17:40696152 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002291493] Chr17:42536653 [GRCh38]
Chr17:40688671 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.111_120delinsAGCC (p.Arg38_Leu40delinsAla) indel Mucopolysaccharidosis, MPS-III-B [RCV002274859] Chr17:42536383..42536392 [GRCh38]
Chr17:40688401..40688410 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003774977]|not provided [RCV002292954] Chr17:42543620 [GRCh38]
Chr17:40695638 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002291517] Chr17:42538730 [GRCh38]
Chr17:40690748 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.814_820dup (p.Ser274Ter) duplication Mucopolysaccharidosis, MPS-III-B [RCV002291518] Chr17:42540996..42540997 [GRCh38]
Chr17:40693014..40693015 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1181C>T (p.Thr394Ile) single nucleotide variant not provided [RCV002466994] Chr17:42543187 [GRCh38]
Chr17:40695205 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002295261] Chr17:42541136 [GRCh38]
Chr17:40693154 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002299463] Chr17:42543490 [GRCh38]
Chr17:40695508 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs) indel Mucopolysaccharidosis, MPS-III-B [RCV002308200] Chr17:42536354..42536359 [GRCh38]
Chr17:40688372..40688377 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002295625] Chr17:42543946 [GRCh38]
Chr17:40695964 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002295663] Chr17:42536300 [GRCh38]
Chr17:40688318 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002306795] Chr17:42537445 [GRCh38]
Chr17:40689463 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002299294] Chr17:42536586 [GRCh38]
Chr17:40688604 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002301515] Chr17:42541156 [GRCh38]
Chr17:40693174 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002303367] Chr17:42541136 [GRCh38]
Chr17:40693154 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002304419] Chr17:42536364 [GRCh38]
Chr17:40688382 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002307903]|Mucopolysaccharidosis, MPS-III-B [RCV003775027] Chr17:42538483 [GRCh38]
Chr17:40690501 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.397del (p.Gln133fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV002308304] Chr17:42537410 [GRCh38]
Chr17:40689428 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.949A>G (p.Met317Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002300288] Chr17:42541134 [GRCh38]
Chr17:40693152 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.234C>T (p.Arg78=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002971503] Chr17:42536506 [GRCh38]
Chr17:40688524 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+5G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002726642] Chr17:42538760 [GRCh38]
Chr17:40690778 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002615528] Chr17:42543415 [GRCh38]
Chr17:40695433 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002776382] Chr17:42543921 [GRCh38]
Chr17:40695939 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.966A>C (p.Ser322=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002862718] Chr17:42541151 [GRCh38]
Chr17:40693169 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2225C>G (p.Ser742Cys) single nucleotide variant Inborn genetic diseases [RCV002731918] Chr17:42544231 [GRCh38]
Chr17:40696249 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003013306] Chr17:42538348 [GRCh38]
Chr17:40690366 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002731128] Chr17:42538709 [GRCh38]
Chr17:40690727 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002613998] Chr17:42540957 [GRCh38]
Chr17:40692975 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002993634] Chr17:42543948 [GRCh38]
Chr17:40695966 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003076111] Chr17:42536298 [GRCh38]
Chr17:40688316 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003076976]|not specified [RCV004526223] Chr17:42538450 [GRCh38]
Chr17:40690468 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1959C>T (p.Gly653=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002995281] Chr17:42543965 [GRCh38]
Chr17:40695983 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002903429] Chr17:42543530 [GRCh38]
Chr17:40695548 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002971984] Chr17:42543334 [GRCh38]
Chr17:40695352 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer) duplication Mucopolysaccharidosis, MPS-III-B [RCV002839411] Chr17:42538699..42538700 [GRCh38]
Chr17:40690717..40690718 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002843412] Chr17:42536303 [GRCh38]
Chr17:40688321 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002837781] Chr17:42541003 [GRCh38]
Chr17:40693021 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1022-10C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002991520] Chr17:42543018 [GRCh38]
Chr17:40695036 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002995586] Chr17:42543544 [GRCh38]
Chr17:40695562 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003076910] Chr17:42543894 [GRCh38]
Chr17:40695912 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.24G>T (p.Ala8=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002909058] Chr17:42536296 [GRCh38]
Chr17:40688314 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003076693] Chr17:42536277 [GRCh38]
Chr17:40688295 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002843733] Chr17:42544065 [GRCh38]
Chr17:40696083 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003016589] Chr17:42538754 [GRCh38]
Chr17:40690772 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.490C>T (p.Leu164=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003014522] Chr17:42537504 [GRCh38]
Chr17:40689522 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003013140] Chr17:42543483 [GRCh38]
Chr17:40695501 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.384-15T>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002815257] Chr17:42537383 [GRCh38]
Chr17:40689401 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002775326] Chr17:42543935 [GRCh38]
Chr17:40695953 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002512509] Chr17:42543984 [GRCh38]
Chr17:40696002 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.132C>A (p.Pro44=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003014451] Chr17:42536404 [GRCh38]
Chr17:40688422 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.507C>T (p.Ser169=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002751421] Chr17:42537521 [GRCh38]
Chr17:40689539 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003013236] Chr17:42543863 [GRCh38]
Chr17:40695881 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002837639] Chr17:42543047 [GRCh38]
Chr17:40695065 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002815607] Chr17:42543185 [GRCh38]
Chr17:40695203 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003012434] Chr17:42543063 [GRCh38]
Chr17:40695081 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2044C>T (p.Leu682=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002755055] Chr17:42544050 [GRCh38]
Chr17:40696068 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.882C>T (p.Leu294=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002727075] Chr17:42541067 [GRCh38]
Chr17:40693085 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002970736] Chr17:42536469 [GRCh38]
Chr17:40688487 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002971280] Chr17:42543294 [GRCh38]
Chr17:40695312 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002686272] Chr17:42544059 [GRCh38]
Chr17:40696077 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003033877] Chr17:42543909 [GRCh38]
Chr17:40695927 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.934G>C (p.Asp312His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002862745] Chr17:42541119 [GRCh38]
Chr17:40693137 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002842521] Chr17:42543717 [GRCh38]
Chr17:40695735 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003076683] Chr17:42544131 [GRCh38]
Chr17:40696149 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.990C>T (p.Ala330=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002750272] Chr17:42541175 [GRCh38]
Chr17:40693193 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1190T>G (p.Phe397Cys) single nucleotide variant Inborn genetic diseases [RCV002864263] Chr17:42543196 [GRCh38]
Chr17:40695214 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002908394] Chr17:42536462 [GRCh38]
Chr17:40688480 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003016656] Chr17:42543528 [GRCh38]
Chr17:40695546 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.383+14G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002880341] Chr17:42536669 [GRCh38]
Chr17:40688687 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002843129] Chr17:42543205 [GRCh38]
Chr17:40695223 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.744T>C (p.His248=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002880401] Chr17:42538735 [GRCh38]
Chr17:40690753 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.81G>T (p.Arg27=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002842564] Chr17:42536353 [GRCh38]
Chr17:40688371 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV003034459] Chr17:42544142..42544143 [GRCh38]
Chr17:40696160..40696161 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003014950] Chr17:42538421 [GRCh38]
Chr17:40690439 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.531+16C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002593360] Chr17:42537561 [GRCh38]
Chr17:40689579 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.763A>C (p.Arg255=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002797192] Chr17:42538754 [GRCh38]
Chr17:40690772 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002927882] Chr17:42543195 [GRCh38]
Chr17:40695213 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.306C>G (p.Ala102=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002866544] Chr17:42536578 [GRCh38]
Chr17:40688596 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1782T>A (p.Ala594=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002662956] Chr17:42543788 [GRCh38]
Chr17:40695806 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.576C>T (p.Phe192=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002953786] Chr17:42538383 [GRCh38]
Chr17:40690401 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002796304] Chr17:42543140 [GRCh38]
Chr17:40695158 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1610T>C (p.Phe537Ser) single nucleotide variant not provided [RCV003036948] Chr17:42543616 [GRCh38]
Chr17:40695634 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.249G>A (p.Val83=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002760696] Chr17:42536521 [GRCh38]
Chr17:40688539 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002785498] Chr17:42544213 [GRCh38]
Chr17:40696231 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.663G>A (p.Lys221=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003036534] Chr17:42538470 [GRCh38]
Chr17:40690488 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003053664] Chr17:42536312 [GRCh38]
Chr17:40688330 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003038048] Chr17:42543656 [GRCh38]
Chr17:40695674 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003021049] Chr17:42543562 [GRCh38]
Chr17:40695580 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003003082] Chr17:42536550 [GRCh38]
Chr17:40688568 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003055622]|Mucopolysaccharidosis, MPS-III-B [RCV004763517] Chr17:42541071 [GRCh38]
Chr17:40693089 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002800128] Chr17:42543818 [GRCh38]
Chr17:40695836 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002696199] Chr17:42544216 [GRCh38]
Chr17:40696234 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002825334] Chr17:42543050 [GRCh38]
Chr17:40695068 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002740394] Chr17:42543058 [GRCh38]
Chr17:40695076 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.252G>A (p.Ala84=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003039549] Chr17:42536524 [GRCh38]
Chr17:40688542 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003003160] Chr17:42543929 [GRCh38]
Chr17:40695947 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003038849] Chr17:42543972 [GRCh38]
Chr17:40695990 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002910102] Chr17:42538426 [GRCh38]
Chr17:40690444 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002909476] Chr17:42541120 [GRCh38]
Chr17:40693138 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003019452] Chr17:42543147 [GRCh38]
Chr17:40695165 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002846657] Chr17:42536598 [GRCh38]
Chr17:40688616 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003020633] Chr17:42543810 [GRCh38]
Chr17:40695828 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003100650] Chr17:42543924 [GRCh38]
Chr17:40695942 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003079446] Chr17:42543260 [GRCh38]
Chr17:40695278 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002847702]|Mucopolysaccharidosis, MPS-III-B [RCV003340543] Chr17:42543069 [GRCh38]
Chr17:40695087 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002636764] Chr17:42543183 [GRCh38]
Chr17:40695201 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.741del (p.His248fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV002797040] Chr17:42538729 [GRCh38]
Chr17:40690747 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003037918] Chr17:42537460 [GRCh38]
Chr17:40689478 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003020151] Chr17:42543885 [GRCh38]
Chr17:40695903 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.225G>T (p.Val75=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003020427] Chr17:42536497 [GRCh38]
Chr17:40688515 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002979073] Chr17:42543889 [GRCh38]
Chr17:40695907 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.975C>A (p.Ser325=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002999845] Chr17:42541160 [GRCh38]
Chr17:40693178 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-19C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002659696] Chr17:42537379 [GRCh38]
Chr17:40689397 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002637951] Chr17:42543096 [GRCh38]
Chr17:40695114 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002953028] Chr17:42541042 [GRCh38]
Chr17:40693060 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003053801] Chr17:42543572 [GRCh38]
Chr17:40695590 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002636839] Chr17:42536420 [GRCh38]
Chr17:40688438 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His) single nucleotide variant Inborn genetic diseases [RCV003052827]|Mucopolysaccharidosis, MPS-III-B [RCV003052826] Chr17:42543547 [GRCh38]
Chr17:40695565 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003078436]|not provided [RCV003134640] Chr17:42537460 [GRCh38]
Chr17:40689478 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003002579] Chr17:42543251 [GRCh38]
Chr17:40695269 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002640090] Chr17:42544052 [GRCh38]
Chr17:40696070 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.588T>G (p.Pro196=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003036271] Chr17:42538395 [GRCh38]
Chr17:40690413 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003078214] Chr17:42536621 [GRCh38]
Chr17:40688639 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1021+9C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002638106] Chr17:42541215 [GRCh38]
Chr17:40693233 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003036011] Chr17:42543227 [GRCh38]
Chr17:40695245 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002761573] Chr17:42536444 [GRCh38]
Chr17:40688462 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003054238] Chr17:42543915 [GRCh38]
Chr17:40695933 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002636551] Chr17:42541141 [GRCh38]
Chr17:40693159 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.641del (p.Leu214fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV002847846] Chr17:42538448 [GRCh38]
Chr17:40690466 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002570974] Chr17:42544048 [GRCh38]
Chr17:40696066 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.82dup (p.Glu28fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV003054861] Chr17:42536351..42536352 [GRCh38]
Chr17:40688369..40688370 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV002923656]|not provided [RCV003130783] Chr17:42543494..42543513 [GRCh38]
Chr17:40695512..40695531 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002620025] Chr17:42536652 [GRCh38]
Chr17:40688670 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.678+8del deletion Mucopolysaccharidosis, MPS-III-B [RCV002824359] Chr17:42538492 [GRCh38]
Chr17:40690510 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly) duplication Mucopolysaccharidosis, MPS-III-B [RCV002847923] Chr17:42536351..42536352 [GRCh38]
Chr17:40688369..40688370 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.446del (p.Arg149fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003055225] Chr17:42537460 [GRCh38]
Chr17:40689478 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003019275] Chr17:42543870 [GRCh38]
Chr17:40695888 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.54C>A (p.Ala18=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002620743] Chr17:42536326 [GRCh38]
Chr17:40688344 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.531+10C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002913632] Chr17:42537555 [GRCh38]
Chr17:40689573 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002690597] Chr17:42541063 [GRCh38]
Chr17:40693081 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002760999] Chr17:42544027 [GRCh38]
Chr17:40696045 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu) single nucleotide variant Inborn genetic diseases [RCV003077907]|Mucopolysaccharidosis, MPS-III-B [RCV003077908] Chr17:42543354 [GRCh38]
Chr17:40695372 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003079051] Chr17:42543895 [GRCh38]
Chr17:40695913 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003019342] Chr17:42538698 [GRCh38]
Chr17:40690716 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.886C>T (p.Leu296=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002851363] Chr17:42541071 [GRCh38]
Chr17:40693089 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002958370] Chr17:42543713 [GRCh38]
Chr17:40695731 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002786416] Chr17:42543078 [GRCh38]
Chr17:40695096 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002663964] Chr17:42543445 [GRCh38]
Chr17:40695463 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.531+15T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002851437] Chr17:42537560 [GRCh38]
Chr17:40689578 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.555C>G (p.Thr185=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002959059] Chr17:42538362 [GRCh38]
Chr17:40690380 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1488A>C (p.Leu496=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003056663] Chr17:42543494 [GRCh38]
Chr17:40695512 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002801413] Chr17:42536472 [GRCh38]
Chr17:40688490 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002710887] Chr17:42544067 [GRCh38]
Chr17:40696085 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002766269] Chr17:42536304 [GRCh38]
Chr17:40688322 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003084910] Chr17:42537486 [GRCh38]
Chr17:40689504 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003084911] Chr17:42541164 [GRCh38]
Chr17:40693182 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002918429] Chr17:42541039 [GRCh38]
Chr17:40693057 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.93C>T (p.Ala31=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002805726] Chr17:42536365 [GRCh38]
Chr17:40688383 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002918584] Chr17:42543297 [GRCh38]
Chr17:40695315 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002624854]|not provided [RCV004697254] Chr17:42543397 [GRCh38]
Chr17:40695415 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.717C>T (p.Thr239=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003025866] Chr17:42538708 [GRCh38]
Chr17:40690726 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002957563] Chr17:42536474 [GRCh38]
Chr17:40688492 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002791298] Chr17:42536631 [GRCh38]
Chr17:40688649 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003084565]|not specified [RCV004700945] Chr17:42536444 [GRCh38]
Chr17:40688462 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002597024] Chr17:42544224 [GRCh38]
Chr17:40696242 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002711638] Chr17:42543478 [GRCh38]
Chr17:40695496 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.474G>A (p.Ala158=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002828648] Chr17:42537488 [GRCh38]
Chr17:40689506 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002890843] Chr17:42536391 [GRCh38]
Chr17:40688409 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003022820] Chr17:42538445 [GRCh38]
Chr17:40690463 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002800927] Chr17:42536514 [GRCh38]
Chr17:40688532 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.327C>A (p.Arg109=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002851130] Chr17:42536599 [GRCh38]
Chr17:40688617 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003041306] Chr17:42537471 [GRCh38]
Chr17:40689489 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003005516] Chr17:42538461 [GRCh38]
Chr17:40690479 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.248T>G (p.Val83Gly) single nucleotide variant Inborn genetic diseases [RCV002981811] Chr17:42536520 [GRCh38]
Chr17:40688538 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser) single nucleotide variant Inborn genetic diseases [RCV002953922]|Mucopolysaccharidosis, MPS-III-B [RCV002953923] Chr17:42536531 [GRCh38]
Chr17:40688549 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.329dup (p.Pro111fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV002829468] Chr17:42536600..42536601 [GRCh38]
Chr17:40688618..40688619 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002667880] Chr17:42537540 [GRCh38]
Chr17:40689558 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002624461] Chr17:42538419 [GRCh38]
Chr17:40690437 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1022-18C>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002623673] Chr17:42543010 [GRCh38]
Chr17:40695028 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003057465] Chr17:42536328 [GRCh38]
Chr17:40688346 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1712T>C (p.Leu571Pro) single nucleotide variant Inborn genetic diseases [RCV002763176] Chr17:42543718 [GRCh38]
Chr17:40695736 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002701154] Chr17:42536346 [GRCh38]
Chr17:40688364 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.679-19C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002597028] Chr17:42538651 [GRCh38]
Chr17:40690669 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002919242] Chr17:42544105 [GRCh38]
Chr17:40696123 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002790813] Chr17:42543591 [GRCh38]
Chr17:40695609 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.384-11A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002663401] Chr17:42537387 [GRCh38]
Chr17:40689405 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.444C>T (p.Ala148=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002712082] Chr17:42537458 [GRCh38]
Chr17:40689476 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.780C>A (p.Val260=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003040422] Chr17:42540965 [GRCh38]
Chr17:40692983 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002801607] Chr17:42543503 [GRCh38]
Chr17:40695521 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro) single nucleotide variant Inborn genetic diseases [RCV004636660]|Mucopolysaccharidosis, MPS-III-B [RCV003084956]|Mucopolysaccharidosis, MPS-III-B [RCV003138513] Chr17:42536634 [GRCh38]
Chr17:40688652 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002875856] Chr17:42541069 [GRCh38]
Chr17:40693087 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002642882] Chr17:42543449 [GRCh38]
Chr17:40695467 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003006013] Chr17:42543944 [GRCh38]
Chr17:40695962 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003041307] Chr17:42538716 [GRCh38]
Chr17:40690734 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.39T>G (p.Leu13=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002595485] Chr17:42536311 [GRCh38]
Chr17:40688329 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002982207] Chr17:42543772 [GRCh38]
Chr17:40695790 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002790715] Chr17:42544074 [GRCh38]
Chr17:40696092 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1683G>A (p.Leu561=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002828461] Chr17:42543689 [GRCh38]
Chr17:40695707 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.318T>G (p.Ser106=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002853316] Chr17:42536590 [GRCh38]
Chr17:40688608 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002595192] Chr17:42537541 [GRCh38]
Chr17:40689559 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003057323] Chr17:42536576 [GRCh38]
Chr17:40688594 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.192C>T (p.Thr64=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003081835] Chr17:42536464 [GRCh38]
Chr17:40688482 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+5C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002628523] Chr17:42536660 [GRCh38]
Chr17:40688678 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.498G>T (p.Leu166=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003029905] Chr17:42537512 [GRCh38]
Chr17:40689530 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-11T>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003049109] Chr17:42538659 [GRCh38]
Chr17:40690677 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.348C>A (p.Ala116=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002630092] Chr17:42536620 [GRCh38]
Chr17:40688638 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003028907] Chr17:42543184 [GRCh38]
Chr17:40695202 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.384-4G>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002632949] Chr17:42537394 [GRCh38]
Chr17:40689412 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003049425] Chr17:42543341 [GRCh38]
Chr17:40695359 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.351G>A (p.Val117=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002938645] Chr17:42536623 [GRCh38]
Chr17:40688641 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met) single nucleotide variant Inborn genetic diseases [RCV004070238]|Mucopolysaccharidosis, MPS-III-B [RCV003060249] Chr17:42544221 [GRCh38]
Chr17:40696239 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.54C>T (p.Ala18=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002578328] Chr17:42536326 [GRCh38]
Chr17:40688344 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys) single nucleotide variant Inborn genetic diseases [RCV003091451]|Mucopolysaccharidosis, MPS-III-B [RCV003070421] Chr17:42543546 [GRCh38]
Chr17:40695564 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.223G>A (p.Val75Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002675623] Chr17:42536495 [GRCh38]
Chr17:40688513 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003063102] Chr17:42537467 [GRCh38]
Chr17:40689485 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1021+16G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003030276] Chr17:42541222 [GRCh38]
Chr17:40693240 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002962463] Chr17:42543645 [GRCh38]
Chr17:40695663 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003031773] Chr17:42543278 [GRCh38]
Chr17:40695296 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002770890] Chr17:42541144 [GRCh38]
Chr17:40693162 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002899512] Chr17:42543302 [GRCh38]
Chr17:40695320 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.684G>A (p.Arg228=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002632381] Chr17:42538675 [GRCh38]
Chr17:40690693 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002629719] Chr17:42538710 [GRCh38]
Chr17:40690728 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002651183]|not provided [RCV003134674] Chr17:42541084 [GRCh38]
Chr17:40693102 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.34dup (p.Val12fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV003088440] Chr17:42536301..42536302 [GRCh38]
Chr17:40688319..40688320 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003064443]|not provided [RCV004721102] Chr17:42536507 [GRCh38]
Chr17:40688525 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003091293] Chr17:42540967 [GRCh38]
Chr17:40692985 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003065808] Chr17:42541147 [GRCh38]
Chr17:40693165 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002720491] Chr17:42541201 [GRCh38]
Chr17:40693219 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003026368] Chr17:42543741 [GRCh38]
Chr17:40695759 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002649668] Chr17:42543650 [GRCh38]
Chr17:40695668 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.930G>A (p.Gly310=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002832909] Chr17:42541115 [GRCh38]
Chr17:40693133 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002899381] Chr17:42543839 [GRCh38]
Chr17:40695857 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003089478] Chr17:42537424 [GRCh38]
Chr17:40689442 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002770747] Chr17:42543704 [GRCh38]
Chr17:40695722 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003089295] Chr17:42541179 [GRCh38]
Chr17:40693197 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.738G>C (p.Ala246=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003061446] Chr17:42538729 [GRCh38]
Chr17:40690747 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003029393] Chr17:42544086 [GRCh38]
Chr17:40696104 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.120G>A (p.Leu40=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003044916] Chr17:42536392 [GRCh38]
Chr17:40688410 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002899460] Chr17:42543731 [GRCh38]
Chr17:40695749 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002833649] Chr17:42543213 [GRCh38]
Chr17:40695231 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002599703] Chr17:42543311 [GRCh38]
Chr17:40695329 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002857746] Chr17:42536508 [GRCh38]
Chr17:40688526 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV002791925] Chr17:42541181..42541197 [GRCh38]
Chr17:40693199..40693215 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003030895] Chr17:42544145 [GRCh38]
Chr17:40696163 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002933550] Chr17:42538353 [GRCh38]
Chr17:40690371 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.621G>A (p.Leu207=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002578687] Chr17:42538428 [GRCh38]
Chr17:40690446 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003090729] Chr17:42541170 [GRCh38]
Chr17:40693188 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003087762] Chr17:42538752 [GRCh38]
Chr17:40690770 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002599354] Chr17:42543502 [GRCh38]
Chr17:40695520 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003028286] Chr17:42543549 [GRCh38]
Chr17:40695567 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003043925] Chr17:42537463 [GRCh38]
Chr17:40689481 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp) single nucleotide variant Inborn genetic diseases [RCV003050470]|Mucopolysaccharidosis, MPS-III-B [RCV003064442]|not provided [RCV003126267] Chr17:42536384 [GRCh38]
Chr17:40688402 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del) microsatellite Mucopolysaccharidosis, MPS-III-B [RCV003061973] Chr17:42543743..42543745 [GRCh38]
Chr17:40695761..40695763 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.36C>T (p.Val12=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002938222] Chr17:42536308 [GRCh38]
Chr17:40688326 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2001G>A (p.Val667=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002746666] Chr17:42544007 [GRCh38]
Chr17:40696025 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002581033] Chr17:42543818 [GRCh38]
Chr17:40695836 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+6G>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002646361] Chr17:42536661 [GRCh38]
Chr17:40688679 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003065683] Chr17:42543676 [GRCh38]
Chr17:40695694 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1704G>A (p.Val568=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003060639] Chr17:42543710 [GRCh38]
Chr17:40695728 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003046951] Chr17:42543702 [GRCh38]
Chr17:40695720 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002834219] Chr17:42544211 [GRCh38]
Chr17:40696229 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1764G>A (p.Leu588=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002811771] Chr17:42543770 [GRCh38]
Chr17:40695788 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.147del (p.Val50fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003049183] Chr17:42536418 [GRCh38]
Chr17:40688436 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.21C>G (p.Ala7=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002967135] Chr17:42536293 [GRCh38]
Chr17:40688311 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002601039] Chr17:42536589 [GRCh38]
Chr17:40688607 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002810951] Chr17:42543397 [GRCh38]
Chr17:40695415 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002628221] Chr17:42543628 [GRCh38]
Chr17:40695646 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002650495] Chr17:42543270 [GRCh38]
Chr17:40695288 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1022-2A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003064444] Chr17:42543026 [GRCh38]
Chr17:40695044 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002806367] Chr17:42543927 [GRCh38]
Chr17:40695945 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002937854] Chr17:42536418 [GRCh38]
Chr17:40688436 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.764+17C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002650567] Chr17:42538772 [GRCh38]
Chr17:40690790 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.678+10T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002962104] Chr17:42538495 [GRCh38]
Chr17:40690513 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-9T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002857567] Chr17:42537389 [GRCh38]
Chr17:40689407 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003045949] Chr17:42543118 [GRCh38]
Chr17:40695136 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser) single nucleotide variant Inborn genetic diseases [RCV004071763]|Mucopolysaccharidosis, MPS-III-B [RCV003069089] Chr17:42536507 [GRCh38]
Chr17:40688525 [GRCh37]
Chr17:17q21.2
likely pathogenic|uncertain significance
NM_000263.4(NAGLU):c.762C>A (p.Thr254=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002653106] Chr17:42538753 [GRCh38]
Chr17:40690771 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002654163] Chr17:42536345 [GRCh38]
Chr17:40688363 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003051413] Chr17:42536316 [GRCh38]
Chr17:40688334 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002584661] Chr17:42538712 [GRCh38]
Chr17:40690730 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003069332] Chr17:42543670 [GRCh38]
Chr17:40695688 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.849G>A (p.Pro283=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003050965] Chr17:42541034 [GRCh38]
Chr17:40693052 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003092601] Chr17:42543604 [GRCh38]
Chr17:40695622 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003093220] Chr17:42536435 [GRCh38]
Chr17:40688453 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly) single nucleotide variant Inborn genetic diseases [RCV003092654]|Mucopolysaccharidosis, MPS-III-B [RCV003073506] Chr17:42543723 [GRCh38]
Chr17:40695741 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003050473] Chr17:42543488 [GRCh38]
Chr17:40695506 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002589954] Chr17:42543917 [GRCh38]
Chr17:40695935 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.258C>T (p.Ala86=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002585344]|not provided [RCV003420353] Chr17:42536530 [GRCh38]
Chr17:40688548 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.647C>A (p.Pro216His) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002606982] Chr17:42538454 [GRCh38]
Chr17:40690472 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003068067] Chr17:42538728 [GRCh38]
Chr17:40690746 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003068132] Chr17:42543669 [GRCh38]
Chr17:40695687 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.759C>T (p.Val253=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003071174] Chr17:42538750 [GRCh38]
Chr17:40690768 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002814470] Chr17:42543725 [GRCh38]
Chr17:40695743 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002814518] Chr17:42543618 [GRCh38]
Chr17:40695636 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.383+3A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003092822] Chr17:42536658 [GRCh38]
Chr17:40688676 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002633824] Chr17:42536489 [GRCh38]
Chr17:40688507 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002611292] Chr17:42543828 [GRCh38]
Chr17:40695846 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1293C>T (p.Arg431=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002814758] Chr17:42543299 [GRCh38]
Chr17:40695317 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002654411] Chr17:42543490 [GRCh38]
Chr17:40695508 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1140T>A (p.Val380=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002611511] Chr17:42543146 [GRCh38]
Chr17:40695164 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002944117] Chr17:42543661 [GRCh38]
Chr17:40695679 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.465C>T (p.Asp155=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003050287] Chr17:42537479 [GRCh38]
Chr17:40689497 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.738G>A (p.Ala246=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002609717] Chr17:42538729 [GRCh38]
Chr17:40690747 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002611763] Chr17:42543129 [GRCh38]
Chr17:40695147 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.764+16C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003068380] Chr17:42538771 [GRCh38]
Chr17:40690789 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003050471] Chr17:42536416 [GRCh38]
Chr17:40688434 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003068709] Chr17:42544060 [GRCh38]
Chr17:40696078 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003067451]|not provided [RCV004775286] Chr17:42543514 [GRCh38]
Chr17:40695532 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003071005] Chr17:42543921 [GRCh38]
Chr17:40695939 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV002610563] Chr17:42536309 [GRCh38]
Chr17:40688327 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.384-32_384-20dup duplication not specified [RCV003155735] Chr17:42537363..42537364 [GRCh38]
Chr17:40689381..40689382 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
NM_000263.4(NAGLU):c.2054G>T (p.Ser685Ile) single nucleotide variant not provided [RCV003131681] Chr17:42544060 [GRCh38]
Chr17:40696078 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro) single nucleotide variant not specified [RCV003226657] Chr17:42543499 [GRCh38]
Chr17:40695517 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003779829]|not provided [RCV003229294] Chr17:42543655 [GRCh38]
Chr17:40695673 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1915delinsTT (p.Glu639fs) indel not provided [RCV003135306] Chr17:42543921 [GRCh38]
Chr17:40695939 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.765-782A>G single nucleotide variant not provided [RCV003142643] Chr17:42540168 [GRCh38]
Chr17:40692186 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter) single nucleotide variant not specified [RCV003226656] Chr17:42544220 [GRCh38]
Chr17:40696238 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.445C>T (p.Arg149Cys) single nucleotide variant not provided [RCV004598612] Chr17:42537459 [GRCh38]
Chr17:40689477 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1744G>T (p.Ala582Ser) single nucleotide variant Tip-toe gait [RCV003319156] Chr17:42543750 [GRCh38]
Chr17:40695768 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.2123_2205del (p.Phe708fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003338226] Chr17:42544129..42544211 [GRCh38]
Chr17:40696147..40696229 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.430TGG[1] (p.Trp145del) microsatellite NAGLU-related disorder [RCV003421149] Chr17:42537443..42537445 [GRCh38]
Chr17:40689461..40689463 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.679-7C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003781526] Chr17:42538663 [GRCh38]
Chr17:40690681 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003791716] Chr17:42543555 [GRCh38]
Chr17:40695573 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003781848] Chr17:42541018 [GRCh38]
Chr17:40693036 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1540C>G (p.Arg514Gly) single nucleotide variant not provided [RCV003428281] Chr17:42543546 [GRCh38]
Chr17:40695564 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.383+16T>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003791565] Chr17:42536671 [GRCh38]
Chr17:40688689 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.95T>C (p.Val32Ala) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003389026] Chr17:42536367 [GRCh38]
Chr17:40688385 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.397C>T (p.Gln133Ter) single nucleotide variant NAGLU-related disorder [RCV003412165] Chr17:42537411 [GRCh38]
Chr17:40689429 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.268C>T (p.His90Tyr) single nucleotide variant not provided [RCV003413236] Chr17:42536540 [GRCh38]
Chr17:40688558 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.402T>C (p.Asn134=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003808034] Chr17:42537416 [GRCh38]
Chr17:40689434 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.196A>T (p.Ser66Cys) single nucleotide variant not provided [RCV003489553] Chr17:42536468 [GRCh38]
Chr17:40688486 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003807525] Chr17:42543317 [GRCh38]
Chr17:40695335 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.532-14C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003797711] Chr17:42538325 [GRCh38]
Chr17:40690343 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.765-12G>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003786923] Chr17:42540938 [GRCh38]
Chr17:40692956 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.855C>T (p.Asp285=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003807840] Chr17:42541040 [GRCh38]
Chr17:40693058 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+8C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003797730] Chr17:42536663 [GRCh38]
Chr17:40688681 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2099del (p.Asn700fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003783716] Chr17:42544101 [GRCh38]
Chr17:40696119 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.213C>T (p.Gly71=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003788657] Chr17:42536485 [GRCh38]
Chr17:40688503 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003795438] Chr17:42543512 [GRCh38]
Chr17:40695530 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.606G>A (p.Gly202=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003791176] Chr17:42538413 [GRCh38]
Chr17:40690431 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003783715] Chr17:42543178 [GRCh38]
Chr17:40695196 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.762C>T (p.Thr254=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003791286] Chr17:42538753 [GRCh38]
Chr17:40690771 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003787375] Chr17:42544016 [GRCh38]
Chr17:40696034 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.516G>A (p.Glu172=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003794051] Chr17:42537530 [GRCh38]
Chr17:40689548 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1623G>T (p.Arg541=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003807719] Chr17:42543629 [GRCh38]
Chr17:40695647 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1101_1112dup (p.Val373_Pro374insLeuGlyAlaVal) duplication not provided [RCV003488105] Chr17:42543105..42543106 [GRCh38]
Chr17:40695123..40695124 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.306C>T (p.Ala102=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003792859] Chr17:42536578 [GRCh38]
Chr17:40688596 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.532-19G>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003806747] Chr17:42538320 [GRCh38]
Chr17:40690338 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.184T>C (p.Leu62=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003805952] Chr17:42536456 [GRCh38]
Chr17:40688474 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.24G>A (p.Ala8=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003785477] Chr17:42536296 [GRCh38]
Chr17:40688314 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003806897] Chr17:42543693..42543696 [GRCh38]
Chr17:40695711..40695714 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003782820] Chr17:42543773 [GRCh38]
Chr17:40695791 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003796949] Chr17:42543047 [GRCh38]
Chr17:40695065 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.660C>A (p.Ile220=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003789300] Chr17:42538467 [GRCh38]
Chr17:40690485 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV003782929] Chr17:42543092..42543093 [GRCh38]
Chr17:40695110..40695111 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003808010]|NAGLU-related disorder [RCV003893413] Chr17:42544004 [GRCh38]
Chr17:40696022 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003806041] Chr17:42543575 [GRCh38]
Chr17:40695593 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.322C>T (p.Leu108=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003784408] Chr17:42536594 [GRCh38]
Chr17:40688612 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.765-14T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003807450] Chr17:42540936 [GRCh38]
Chr17:40692954 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.615C>T (p.Gly205=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003808023] Chr17:42538422 [GRCh38]
Chr17:40690440 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.993C>G (p.Thr331=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003789511] Chr17:42541178 [GRCh38]
Chr17:40693196 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003785577] Chr17:42544010 [GRCh38]
Chr17:40696028 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003794776] Chr17:42543858 [GRCh38]
Chr17:40695876 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003806330] Chr17:42543578 [GRCh38]
Chr17:40695596 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003807454] Chr17:42543875 [GRCh38]
Chr17:40695893 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.243G>T (p.Thr81=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003785528] Chr17:42536515 [GRCh38]
Chr17:40688533 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.594C>T (p.Phe198=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003806342] Chr17:42538401 [GRCh38]
Chr17:40690419 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.532-11T>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003781761] Chr17:42538328 [GRCh38]
Chr17:40690346 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1238del (p.Asn413fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003779413] Chr17:42543242 [GRCh38]
Chr17:40695260 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003781850] Chr17:42543952 [GRCh38]
Chr17:40695970 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1977C>T (p.Ala659=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003806579] Chr17:42543983 [GRCh38]
Chr17:40696001 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003784786] Chr17:42543476 [GRCh38]
Chr17:40695494 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003794451] Chr17:42543354 [GRCh38]
Chr17:40695372 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.532-18T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003786099] Chr17:42538321 [GRCh38]
Chr17:40690339 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-6C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003795197] Chr17:42538664 [GRCh38]
Chr17:40690682 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV003804186] Chr17:42536505..42536506 [GRCh38]
Chr17:40688523..40688524 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003794567] Chr17:42544082 [GRCh38]
Chr17:40696100 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003783712] Chr17:42537402 [GRCh38]
Chr17:40689420 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.764+20del deletion Mucopolysaccharidosis, MPS-III-B [RCV003794525] Chr17:42538771 [GRCh38]
Chr17:40690789 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.390C>G (p.Arg130=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003806369] Chr17:42537404 [GRCh38]
Chr17:40689422 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1359G>A (p.Val453=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003791754] Chr17:42543365 [GRCh38]
Chr17:40695383 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003788681] Chr17:42543830 [GRCh38]
Chr17:40695848 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1025del (p.Asp342fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003791786] Chr17:42543031 [GRCh38]
Chr17:40695049 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003781491] Chr17:42543681 [GRCh38]
Chr17:40695699 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.496C>T (p.Leu166=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003796040] Chr17:42537510 [GRCh38]
Chr17:40689528 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.531+8C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003794184] Chr17:42537553 [GRCh38]
Chr17:40689571 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+13A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003792588] Chr17:42536668 [GRCh38]
Chr17:40688686 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003805705] Chr17:42543497 [GRCh38]
Chr17:40695515 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1177del (p.Arg393fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003805711] Chr17:42543181 [GRCh38]
Chr17:40695199 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.519C>T (p.Ala173=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003780063] Chr17:42537533 [GRCh38]
Chr17:40689551 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003789454] Chr17:42536274 [GRCh38]
Chr17:40688292 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003796048] Chr17:42543848 [GRCh38]
Chr17:40695866 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+17T>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003786463] Chr17:42536672 [GRCh38]
Chr17:40688690 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.765-17C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003792982] Chr17:42540933 [GRCh38]
Chr17:40692951 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+15C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003805369] Chr17:42536670 [GRCh38]
Chr17:40688688 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.261G>T (p.Ala87=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003791231] Chr17:42536533 [GRCh38]
Chr17:40688551 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003785373] Chr17:42543269 [GRCh38]
Chr17:40695287 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003807077] Chr17:42544076 [GRCh38]
Chr17:40696094 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.531+17C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003793258] Chr17:42537562 [GRCh38]
Chr17:40689580 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003779414] Chr17:42543343 [GRCh38]
Chr17:40695361 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.679-16C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003784446] Chr17:42538654 [GRCh38]
Chr17:40690672 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.207C>T (p.Gly69=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003805961] Chr17:42536479 [GRCh38]
Chr17:40688497 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1022-14C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003780928] Chr17:42543014 [GRCh38]
Chr17:40695032 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003793604] Chr17:42543638 [GRCh38]
Chr17:40695656 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003789808] Chr17:42543386 [GRCh38]
Chr17:40695404 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+2T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003805088] Chr17:42538757 [GRCh38]
Chr17:40690775 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003786334] Chr17:42543831 [GRCh38]
Chr17:40695849 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.543C>G (p.Ala181=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003806852] Chr17:42538350 [GRCh38]
Chr17:40690368 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.63G>A (p.Ala21=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003792265] Chr17:42536335 [GRCh38]
Chr17:40688353 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1803G>A (p.Glu601=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003784168] Chr17:42543809 [GRCh38]
Chr17:40695827 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003795463] Chr17:42538344 [GRCh38]
Chr17:40690362 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1021+11T>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003792048] Chr17:42541217 [GRCh38]
Chr17:40693235 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003791346] Chr17:42543056 [GRCh38]
Chr17:40695074 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003781849] Chr17:42543370 [GRCh38]
Chr17:40695388 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.384-12C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003792860] Chr17:42537386 [GRCh38]
Chr17:40689404 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1097T>A (p.Ile366Asn) single nucleotide variant not provided [RCV003488106] Chr17:42543103 [GRCh38]
Chr17:40695121 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003787398] Chr17:42538724 [GRCh38]
Chr17:40690742 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.354G>A (p.Pro118=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003782173] Chr17:42536626 [GRCh38]
Chr17:40688644 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003792438] Chr17:42543698 [GRCh38]
Chr17:40695716 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.648C>A (p.Pro216=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003793844] Chr17:42538455 [GRCh38]
Chr17:40690473 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1203C>G (p.Pro401=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003783848] Chr17:42543209 [GRCh38]
Chr17:40695227 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+20C>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003791651] Chr17:42538775 [GRCh38]
Chr17:40690793 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003782208] Chr17:42544211 [GRCh38]
Chr17:40696229 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1021+13G>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003804305] Chr17:42541219 [GRCh38]
Chr17:40693237 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-15_679-12del microsatellite Mucopolysaccharidosis, MPS-III-B [RCV003793015] Chr17:42538650..42538653 [GRCh38]
Chr17:40690668..40690671 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003782766] Chr17:42543122 [GRCh38]
Chr17:40695140 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.678+7G>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003804166] Chr17:42538492 [GRCh38]
Chr17:40690510 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.765-5A>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003786691] Chr17:42540945 [GRCh38]
Chr17:40692963 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003781415] Chr17:42543230 [GRCh38]
Chr17:40695248 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003783714] Chr17:42537496 [GRCh38]
Chr17:40689514 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.21C>T (p.Ala7=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003783251] Chr17:42536293 [GRCh38]
Chr17:40688311 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003809969] Chr17:42538479 [GRCh38]
Chr17:40690497 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.595del (p.Leu199fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003808992] Chr17:42538401 [GRCh38]
Chr17:40690419 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.15G>A (p.Ala5=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003799893] Chr17:42536287 [GRCh38]
Chr17:40688305 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.384-12C>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003813528] Chr17:42537386 [GRCh38]
Chr17:40689404 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-19C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003810177] Chr17:42538651 [GRCh38]
Chr17:40690669 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.532-6C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003801251] Chr17:42538333 [GRCh38]
Chr17:40690351 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1695G>T (p.Arg565=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003797983] Chr17:42543701 [GRCh38]
Chr17:40695719 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1022-17C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003800151] Chr17:42543011 [GRCh38]
Chr17:40695029 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.12G>A (p.Val4=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003808176] Chr17:42536284 [GRCh38]
Chr17:40688302 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2066del (p.Gly689fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003808344] Chr17:42544070 [GRCh38]
Chr17:40696088 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003809512] Chr17:42544217 [GRCh38]
Chr17:40696235 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003813355] Chr17:42543671 [GRCh38]
Chr17:40695689 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.312C>T (p.Ser104=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003799440] Chr17:42536584 [GRCh38]
Chr17:40688602 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.354G>T (p.Pro118=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003813643] Chr17:42536626 [GRCh38]
Chr17:40688644 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003812963] Chr17:42543235 [GRCh38]
Chr17:40695253 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.384-18T>C single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003812362] Chr17:42537380 [GRCh38]
Chr17:40689398 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.678+17G>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003812412] Chr17:42538502 [GRCh38]
Chr17:40690520 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.764+10C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003799961] Chr17:42538765 [GRCh38]
Chr17:40690783 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.765-5A>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003815562] Chr17:42540945 [GRCh38]
Chr17:40692963 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1359G>T (p.Val453=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003815571] Chr17:42543365 [GRCh38]
Chr17:40695383 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg) single nucleotide variant not specified [RCV003994917] Chr17:42543049 [GRCh38]
Chr17:40695067 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.764+9C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003801955] Chr17:42538764 [GRCh38]
Chr17:40690782 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003818133] Chr17:42543308 [GRCh38]
Chr17:40695326 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-18T>A single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003797935] Chr17:42538652 [GRCh38]
Chr17:40690670 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.679-20C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003799066] Chr17:42538650 [GRCh38]
Chr17:40690668 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003818033] Chr17:42543092 [GRCh38]
Chr17:40695110 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.129C>A (p.Gly43=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003801882] Chr17:42536401 [GRCh38]
Chr17:40688419 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003801507] Chr17:42537433 [GRCh38]
Chr17:40689451 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.870C>T (p.Ile290=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003798758] Chr17:42541055 [GRCh38]
Chr17:40693073 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003810546] Chr17:42543437 [GRCh38]
Chr17:40695455 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.490del (p.Leu164fs) deletion Mucopolysaccharidosis, MPS-III-B [RCV003801789] Chr17:42537503 [GRCh38]
Chr17:40689521 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.165T>C (p.Ala55=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003808460] Chr17:42536437 [GRCh38]
Chr17:40688455 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.939T>A (p.Thr313=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003801794] Chr17:42541124 [GRCh38]
Chr17:40693142 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+7C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003817936] Chr17:42536662 [GRCh38]
Chr17:40688680 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.183C>A (p.Gly61=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003810303] Chr17:42536455 [GRCh38]
Chr17:40688473 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003801394] Chr17:42536649 [GRCh38]
Chr17:40688667 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.383+17del deletion Mucopolysaccharidosis, MPS-III-B [RCV003810453] Chr17:42536671 [GRCh38]
Chr17:40688689 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003815325] Chr17:42543734 [GRCh38]
Chr17:40695752 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs) duplication Mucopolysaccharidosis, MPS-III-B [RCV003812287] Chr17:42538723..42538724 [GRCh38]
Chr17:40690741..40690742 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003809747] Chr17:42543450 [GRCh38]
Chr17:40695468 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2085C>T (p.His695=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003800702] Chr17:42544091 [GRCh38]
Chr17:40696109 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003812603] Chr17:42544073 [GRCh38]
Chr17:40696091 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003798591] Chr17:42543993 [GRCh38]
Chr17:40696011 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003813537] Chr17:42544160 [GRCh38]
Chr17:40696178 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.607C>A (p.Arg203=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003801545] Chr17:42538414 [GRCh38]
Chr17:40690432 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003808533] Chr17:42543671 [GRCh38]
Chr17:40695689 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1095G>A (p.Gln365=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003815234] Chr17:42543101 [GRCh38]
Chr17:40695119 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003808753] Chr17:42543515 [GRCh38]
Chr17:40695533 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.549C>T (p.Gly183=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003809585] Chr17:42538356 [GRCh38]
Chr17:40690374 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.383+10del deletion Mucopolysaccharidosis, MPS-III-B [RCV003813261] Chr17:42536662 [GRCh38]
Chr17:40688680 [GRCh37]
Chr17:17q21.2
benign
NM_000263.4(NAGLU):c.679-16C>G single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003797936] Chr17:42538654 [GRCh38]
Chr17:40690672 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003800704] Chr17:42543632 [GRCh38]
Chr17:40695650 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.210C>T (p.Gly70=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003801305] Chr17:42536482 [GRCh38]
Chr17:40688500 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.483C>T (p.Gly161=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003802642] Chr17:42537497 [GRCh38]
Chr17:40689515 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003802807] Chr17:42537422 [GRCh38]
Chr17:40689440 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003802419] Chr17:42544151 [GRCh38]
Chr17:40696169 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.549C>G (p.Gly183=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003802886] Chr17:42538356 [GRCh38]
Chr17:40690374 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003802506] Chr17:42543687 [GRCh38]
Chr17:40695705 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.764+14C>T single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003803231] Chr17:42538769 [GRCh38]
Chr17:40690787 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del) deletion Mucopolysaccharidosis, MPS-III-B [RCV003802062] Chr17:42536600..42536611 [GRCh38]
Chr17:40688618..40688629 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003803604] Chr17:42543128 [GRCh38]
Chr17:40695146 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003803668] Chr17:42543821 [GRCh38]
Chr17:40695839 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003802581] Chr17:42543092 [GRCh38]
Chr17:40695110 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV003802986] Chr17:42543834 [GRCh38]
Chr17:40695852 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.*8G>A single nucleotide variant NAGLU-related disorder [RCV003959831] Chr17:42544246 [GRCh38]
Chr17:40696264 [GRCh37]
Chr17:17q21.2
likely benign
NM_000263.4(NAGLU):c.320A>G (p.Gln107Arg) single nucleotide variant Inborn genetic diseases [RCV004469056] Chr17:42536592 [GRCh38]
Chr17:40688610 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1136T>G (p.Leu379Arg) single nucleotide variant Inborn genetic diseases [RCV004469017] Chr17:42543142 [GRCh38]
Chr17:40695160 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1016C>G (p.Thr339Ser) single nucleotide variant Inborn genetic diseases [RCV004469006] Chr17:42541201 [GRCh38]
Chr17:40693219 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1031A>C (p.Glu344Ala) single nucleotide variant Inborn genetic diseases [RCV004469010] Chr17:42543037 [GRCh38]
Chr17:40695055 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1876C>G (p.Arg626Gly) single nucleotide variant not specified [RCV004689534] Chr17:42543882 [GRCh38]
Chr17:40695900 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.259G>C (p.Ala87Pro) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV004689500] Chr17:42536531 [GRCh38]
Chr17:40688549 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000263.4(NAGLU):c.1547C>T (p.Pro516Leu) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV004689537] Chr17:42543553 [GRCh38]
Chr17:40695571 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile) single nucleotide variant Mucopolysaccharidosis, MPS-III-B [RCV004689479] Chr17:42543316 [GRCh38]
Chr17:40695334 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000263.4(NAGLU):c.223G>T (p.Val75Leu) single nucleotide variant not provided [RCV004697885] Chr17:42536495 [GRCh38]
Chr17:40688513 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.2117A>G (p.Gln706Arg) single nucleotide variant Inborn genetic diseases [RCV004652259] Chr17:42544123 [GRCh38]
Chr17:40696141 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1573A>T (p.Met525Leu) single nucleotide variant Inborn genetic diseases [RCV004652260] Chr17:42543579 [GRCh38]
Chr17:40695597 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.1963A>T (p.Ile655Phe) single nucleotide variant not specified [RCV004701093] Chr17:42543969 [GRCh38]
Chr17:40695987 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000263.4(NAGLU):c.630G>C (p.Trp210Cys) single nucleotide variant not provided [RCV004771150] Chr17:42538437 [GRCh38]
Chr17:40690455 [GRCh37]
Chr17:17q21.2
uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22
pathogenic
NM_000263.4(NAGLU):c.1851G>C (p.Leu617Phe) single nucleotide variant not specified [RCV004766571] Chr17:42543857 [GRCh38]
Chr17:40695875 [GRCh37]
Chr17:17q21.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1915
Count of miRNA genes:747
Interacting mature miRNAs:891
Transcripts:ENST00000225927, ENST00000586516, ENST00000590358, ENST00000591587, ENST00000592454
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407006310GWAS655286_Hsystolic blood pressure change measurement QTL GWAS655286 (human)0.000001systolic blood pressure change measurementchange in systolic blood pressure (CMO:0000746)174254132642541327Human
407152787GWAS801763_Hheel bone mineral density QTL GWAS801763 (human)5e-10heel bone mineral densitybone mineral density (CMO:0001226)174254132642541327Human
407355165GWAS1004141_Hlevel of alpha-N-acetylglucosaminidase in blood serum QTL GWAS1004141 (human)1e-38level of alpha-N-acetylglucosaminidase in blood serum174254421542544216Human
407417540GWAS1066516_Hpulse pressure measurement QTL GWAS1066516 (human)0.000003pulse pressure measurementpulse pressure (CMO:0000292)174254421542544216Human
407396788GWAS1045764_Hsystolic blood pressure QTL GWAS1045764 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)174254421542544216Human
407226904GWAS875880_Hfear of minor pain measurement QTL GWAS875880 (human)0.0000005fear of minor pain measurement174254062042540621Human

Markers in Region
RH18065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,696,033 - 40,696,165UniSTSGRCh37
Build 361737,949,559 - 37,949,691RGDNCBI36
Celera1737,351,967 - 37,352,099RGD
Cytogenetic Map17q21UniSTS
Cytogenetic Map17q21.2UniSTS
HuRef1736,461,043 - 36,461,175UniSTS
GeneMap99-GB4 RH Map17308.5UniSTS
PMC115182P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,690,756 - 40,691,348UniSTSGRCh37
Build 361737,944,282 - 37,944,874RGDNCBI36
Celera1737,346,690 - 37,347,282RGD
Cytogenetic Map17q21UniSTS
HuRef1736,455,766 - 36,456,358UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC067852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI299657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY401970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF435029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ012843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY561592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY561593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY561594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000225927   ⟹   ENSP00000225927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,536,241 - 42,544,449 (+)Ensembl
Ensembl Acc Id: ENST00000586516   ⟹   ENSP00000467135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,536,523 - 42,541,093 (+)Ensembl
Ensembl Acc Id: ENST00000590358   ⟹   ENSP00000466892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,536,938 - 42,538,364 (+)Ensembl
Ensembl Acc Id: ENST00000591587   ⟹   ENSP00000467836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,536,530 - 42,544,161 (+)Ensembl
Ensembl Acc Id: ENST00000592454   ⟹   ENSP00000468665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,541,091 - 42,543,549 (+)Ensembl
RefSeq Acc Id: NM_000263   ⟹   NP_000254
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,536,241 - 42,544,449 (+)NCBI
GRCh371740,687,951 - 40,696,467 (+)ENTREZGENE
Build 361737,941,477 - 37,949,993 (+)NCBI Archive
HuRef1736,452,897 - 36,461,477 (+)ENTREZGENE
CHM1_11740,923,793 - 40,932,309 (+)NCBI
T2T-CHM13v2.01743,393,428 - 43,401,636 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024687   ⟹   XP_016880176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,538,472 - 42,544,449 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450771   ⟹   XP_024306539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,536,241 - 42,544,449 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436138   ⟹   XP_047292094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,536,241 - 42,544,449 (+)NCBI
RefSeq Acc Id: XM_047436139   ⟹   XP_047292095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,538,472 - 42,544,449 (+)NCBI
RefSeq Acc Id: XM_054316248   ⟹   XP_054172223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01743,393,428 - 43,401,636 (+)NCBI
RefSeq Acc Id: XM_054316249   ⟹   XP_054172224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01743,393,428 - 43,401,636 (+)NCBI
RefSeq Acc Id: XM_054316250   ⟹   XP_054172225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01743,395,659 - 43,401,636 (+)NCBI
RefSeq Acc Id: XM_054316251   ⟹   XP_054172226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01743,395,659 - 43,401,636 (+)NCBI
RefSeq Acc Id: NP_000254   ⟸   NM_000263
- Peptide Label: precursor
- UniProtKB: P54802 (UniProtKB/Swiss-Prot),   A0A140VJE4 (UniProtKB/TrEMBL),   Q14769 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880176   ⟸   XM_017024687
- Peptide Label: isoform X3
- UniProtKB: Q59FD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306539   ⟸   XM_024450771
- Peptide Label: isoform X1
- UniProtKB: Q14769 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000467135   ⟸   ENST00000586516
Ensembl Acc Id: ENSP00000466892   ⟸   ENST00000590358
Ensembl Acc Id: ENSP00000467836   ⟸   ENST00000591587
Ensembl Acc Id: ENSP00000468665   ⟸   ENST00000592454
Ensembl Acc Id: ENSP00000225927   ⟸   ENST00000225927
RefSeq Acc Id: XP_047292094   ⟸   XM_047436138
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047292095   ⟸   XM_047436139
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172223   ⟸   XM_054316248
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172224   ⟸   XM_054316249
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172225   ⟸   XM_054316250
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172226   ⟸   XM_054316251
- Peptide Label: isoform X4
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54802-F1-model_v2 AlphaFold P54802 1-743 view protein structure

Promoters
RGD ID:6794004
Promoter ID:HG_KWN:26198
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377405,   NM_000263,   UC010CYH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,941,626 - 37,942,182 (+)MPROMDB
RGD ID:6811266
Promoter ID:HG_ACW:34593
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NAGLUANDCOASY.NAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,942,051 - 37,942,551 (+)MPROMDB
RGD ID:7235093
Promoter ID:EPDNEW_H23292
Type:initiation region
Name:NAGLU_1
Description:N-acetyl-alpha-glucosaminidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,536,261 - 42,536,321EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7632 AgrOrtholog
COSMIC NAGLU COSMIC
Ensembl Genes ENSG00000108784 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225927 ENTREZGENE
  ENST00000225927.7 UniProtKB/Swiss-Prot
  ENST00000586516.5 UniProtKB/TrEMBL
  ENST00000590358.1 UniProtKB/TrEMBL
  ENST00000591587.1 UniProtKB/TrEMBL
  ENST00000592454.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.379.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycosidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N-acetyl-b-d-glucoasminidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108784 GTEx
HGNC ID HGNC:7632 ENTREZGENE
Human Proteome Map NAGLU Human Proteome Map
InterPro Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hex-like_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAGLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAGLU_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAGLU_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAGLU_tim-barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4669 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4669 ENTREZGENE
OMIM 609701 OMIM
PANTHER ALPHA-N-ACETYLGLUCOSAMINIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NAGLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAGLU_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAGLU_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31437 PharmGKB
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJE4 ENTREZGENE, UniProtKB/TrEMBL
  A0A286RZ40_HUMAN UniProtKB/TrEMBL
  A0A286RZ41_HUMAN UniProtKB/TrEMBL
  A0A286RZ43_HUMAN UniProtKB/TrEMBL
  ANAG_HUMAN UniProtKB/Swiss-Prot
  K7END1_HUMAN UniProtKB/TrEMBL
  K7ENX5_HUMAN UniProtKB/TrEMBL
  K7EQH9_HUMAN UniProtKB/TrEMBL
  K7ESD7_HUMAN UniProtKB/TrEMBL
  P54802 ENTREZGENE
  Q14769 ENTREZGENE, UniProtKB/TrEMBL
  Q59FD0 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 NAGLU  N-acetyl-alpha-glucosaminidase  NAGLU  N-acetylglucosaminidase, alpha  Symbol and/or name change 5135510 APPROVED
2011-07-27 NAGLU  N-acetylglucosaminidase, alpha  NAGLU  N-acetylglucosaminidase, alpha-  Symbol and/or name change 5135510 APPROVED