IDUA (alpha-L-iduronidase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: IDUA (alpha-L-iduronidase) Homo sapiens
Analyze
Symbol: IDUA
Name: alpha-L-iduronidase
RGD ID: 1322129
HGNC Page HGNC:5391
Description: Enables L-iduronidase activity. Involved in dermatan sulfate catabolic process. Acts upstream of or within heparin catabolic process. Located in extracellular exosome. Implicated in Scheie syndrome; mucopolysaccharidosis I; mucopolysaccharidosis Ih; and mucopolysaccharidosis Ih/s. Biomarker of mucopolysaccharidosis I.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: IDA; iduronidase alpha-L-; iduronidase, alpha-L-; MPS1; MPSI; mucopolysaccharidosis type I
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh384986,997 - 1,008,351 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4986,997 - 1,004,564 (+)EnsemblGRCh38hg38GRCh38
GRCh374980,785 - 998,352 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364970,785 - 988,317 (+)NCBINCBI36Build 36hg18NCBI36
Build 344970,614 - 988,146NCBI
Celera4917,731 - 935,177 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef4952,003 - 969,463 (+)NCBIHuRef
CHM1_14980,568 - 998,100 (+)NCBICHM1_1
T2T-CHM13v2.04985,128 - 1,002,611 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal clavicle morphology  (IAGP)
Abnormal CNS myelination  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal nerve conduction velocity  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the elbow  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormality of the tonsils  (IAGP)
Angina pectoris  (IAGP)
Anteverted nares  (IAGP)
Aortic regurgitation  (IAGP)
Aortic valve stenosis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biconcave vertebral bodies  (IAGP)
Bilateral ptosis  (IAGP)
Broad face  (IAGP)
Broad nasal tip  (IAGP)
C1-C2 subluxation  (IAGP)
Calcium oxalate nephrolithiasis  (IAGP)
Calvarial hyperostosis  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiomyopathy  (IAGP)
Cerebral palsy  (IAGP)
Cervical cord compression  (IAGP)
Childhood onset  (IAGP)
Chronic diarrhea  (IAGP)
Coarse facial features  (IAGP)
Constrictive median neuropathy  (IAGP)
Contracture of the distal interphalangeal joint of the fingers  (IAGP)
Corneal opacity  (IAGP)
Coxa valga  (IAGP)
Cranial hyperostosis  (IAGP)
Death in infancy  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Dermatan sulfate excretion in urine  (IAGP)
Diaphyseal undertubulation  (IAGP)
Diminished tissue alpha-L-iduronidase activity  (IAGP)
Dolichocephaly  (IAGP)
Dysostosis multiplex  (IAGP)
Endocardial fibroelastosis  (IAGP)
Enlarged tonsils  (IAGP)
Epileptic encephalopathy  (IAGP)
Everted lower lip vermilion  (IAGP)
Feeding difficulties  (IAGP)
Flared iliac wing  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Generalized hirsutism  (IAGP)
Genu valgum  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand pain  (IAGP)
Hearing impairment  (IAGP)
Heparan sulfate excretion in urine  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hernia  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hyperoxaluria  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoplasia of the femoral head  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Interstitial pneumonitis  (IAGP)
J-shaped sella turcica  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Large face  (IAGP)
Limitation of joint mobility  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Mandibular prognathia  (IAGP)
Metaphyseal widening  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Mitral regurgitation  (IAGP)
Mitral stenosis  (IAGP)
Mucopolysacchariduria  (IAGP)
Narrow pelvis bone  (IAGP)
Neurodegeneration  (IAGP)
Obstructive sleep apnea  (IAGP)
Opacification of the corneal stroma  (IAGP)
Pes cavus  (IAGP)
Progressive neurologic deterioration  (IAGP)
Protuberant abdomen  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Retinal degeneration  (IAGP)
Retinopathy  (IAGP)
Rhinitis  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short clavicles  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Sleep abnormality  (IAGP)
Spastic paraparesis  (IAGP)
Spinal canal stenosis  (IAGP)
Splenomegaly  (IAGP)
Spondylolisthesis  (IAGP)
Thenar muscle atrophy  (IAGP)
Thick eyebrow  (IAGP)
Thick vermilion border  (IAGP)
Thickened skin  (IAGP)
Tracheal stenosis  (IAGP)
Umbilical hernia  (IAGP)
Urinary glycosaminoglycan excretion  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Prolonged expression of a lysosomal enzyme in mouse liver after Sleeping Beauty transposon-mediated gene delivery: implications for non-viral gene therapy of mucopolysaccharidoses. Aronovich EL, etal., J Gene Med. 2007 May;9(5):403-15.
2. Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein. Boado RJ, etal., Mol Pharm. 2011 Aug 1;8(4):1342-50. doi: 10.1021/mp200136x. Epub 2011 Jun 17.
3. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Braunlin EA, etal., Am J Cardiol. 2006 Aug 1;98(3):416-8. doi: 10.1016/j.amjcard.2006.02.047. Epub 2006 Jun 12.
4. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Bunge S, etal., Hum Mol Genet. 1994 Jun;3(6):861-6.
5. Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene. Clarke LA, etal., Hum Mol Genet. 1997 Apr;6(4):503-11.
6. Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy. Garcia-Rivera MF, etal., Brain Res Bull. 2007 Nov 1;74(6):429-38. Epub 2007 Aug 6.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling. Gonzalez EA, etal., J Inherit Metab Dis. 2021 May;44(3):740-750. doi: 10.1002/jimd.12327. Epub 2020 Nov 10.
9. Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. Hartung SD, etal., Mol Ther. 2004 Jun;9(6):866-75.
10. Enzyme-replacement therapy in mucopolysaccharidosis I. Kakkis ED, etal., N Engl J Med. 2001 Jan 18;344(3):182-8. doi: 10.1056/NEJM200101183440304.
11. Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families. Laradi S, etal., J Inherit Metab Dis. 2005;28(6):1019-26.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. Targeting of the CNS in MPS-IH using a nonviral transferrin-alpha-L-iduronidase fusion gene product. Osborn MJ, etal., Mol Ther. 2008 Aug;16(8):1459-66. doi: 10.1038/mt.2008.119. Epub 2008 Jun 3.
14. High-dose enzyme replacement therapy in murine Hurler syndrome. Ou L, etal., Mol Genet Metab. 2014 Feb;111(2):116-22. doi: 10.1016/j.ymgme.2013.09.008. Epub 2013 Sep 19.
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. Scott HS, etal., Hum Mutat. 1992;1(2):103-8.
19. alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Scott HS, etal., Hum Mutat. 1992;1(4):333-9.
20. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. Staba SL, etal., N Engl J Med. 2004 May 6;350(19):1960-9.
21. a- L-iduronidase gene-based therapy using the phiC31 system to treat mucopolysaccharidose type I mice. Stilhano RS, etal., J Gene Med. 2015 Jan-Feb;17(1-2):1-13. doi: 10.1002/jgm.2818.
22. Three novel a-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families. Sun L, etal., Genet Mol Biol. 2011 Apr;34(2):195-200. Epub 2011 Apr 1.
23. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Uttarilli A, etal., Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26.
24. Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. Wang D, etal., Mol Genet Metab. 2010 Jan;99(1):62-71. doi: 10.1016/j.ymgme.2009.08.002.
25. [Changes in the activities of lysosomal enzyme (glycosidase) in experimental acute gastric mucosal lesion]. Watanabe K, Nihon Geka Gakkai Zasshi. 1986 Apr;87(4):395-402.
26. Changes in the catalytic activities of proteoglycan-degrading lysosomal enzymes in parenchymal and non-parenchymal liver cells and in serum during the development of experimental liver fibrosis. Weber W, etal., J Clin Chem Clin Biochem. 1983 May;21(5):287-93.
27. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). Wraith JE, etal., J Pediatr. 2004 May;144(5):581-8.
28. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Wraith JE, etal., Pediatrics. 2007 Jul;120(1):e37-46. doi: 10.1542/peds.2006-2156. Epub 2007 Jun 4.
29. Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Yamagishi A, etal., Hum Mutat. 1996;7(1):23-9.
30. Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow. Zheng Y, etal., Mol Genet Metab. 2003 Aug;79(4):233-44.
Additional References at PubMed
PMID:1362562   PMID:1505961   PMID:1550122   PMID:1832239   PMID:1883197   PMID:1946389   PMID:2170400   PMID:2220820   PMID:2470345   PMID:4221470   PMID:6821579   PMID:7550232  
PMID:7550242   PMID:8019563   PMID:8213840   PMID:8242073   PMID:8328452   PMID:8401515   PMID:8477267   PMID:8554071   PMID:8680403   PMID:9391892   PMID:10466419   PMID:10735634  
PMID:10738517   PMID:11555618   PMID:11735025   PMID:11825626   PMID:11861306   PMID:12477932   PMID:12559846   PMID:12818523   PMID:14702039   PMID:15300847   PMID:15521993   PMID:15862278  
PMID:16169070   PMID:16344560   PMID:17570076   PMID:18340403   PMID:19396826   PMID:19839758   PMID:20301341   PMID:21176924   PMID:21364962   PMID:21394825   PMID:21397026   PMID:21521498  
PMID:21639919   PMID:21831683   PMID:21873421   PMID:21873635   PMID:22504420   PMID:23143250   PMID:23376485   PMID:23533145   PMID:23653226   PMID:23786846   PMID:23959878   PMID:24036510  
PMID:24368159   PMID:24480078   PMID:25256405   PMID:27196898   PMID:27238910   PMID:27386755   PMID:27520059   PMID:28514442   PMID:28604952   PMID:29282708   PMID:31275456   PMID:31298590  
PMID:31319022   PMID:31343991   PMID:31386236   PMID:31400021   PMID:31473686   PMID:31586073   PMID:31758674   PMID:31926052   PMID:31943709   PMID:32409323   PMID:32513696   PMID:33961781  
PMID:34189746   PMID:34783964   PMID:35748872   PMID:36215168   PMID:36951468   PMID:38113892  


Genomics

Comparative Map Data
IDUA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384986,997 - 1,008,351 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4986,997 - 1,004,564 (+)EnsemblGRCh38hg38GRCh38
GRCh374980,785 - 998,352 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364970,785 - 988,317 (+)NCBINCBI36Build 36hg18NCBI36
Build 344970,614 - 988,146NCBI
Celera4917,731 - 935,177 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef4952,003 - 969,463 (+)NCBIHuRef
CHM1_14980,568 - 998,100 (+)NCBICHM1_1
T2T-CHM13v2.04985,128 - 1,002,611 (+)NCBIT2T-CHM13v2.0
Idua
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395108,808,197 - 108,833,312 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5108,808,197 - 108,832,423 (+)EnsemblGRCm39 Ensembl
GRCm385108,660,331 - 108,685,446 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5108,660,331 - 108,684,557 (+)EnsemblGRCm38mm10GRCm38
MGSCv375109,098,125 - 109,113,577 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365108,909,667 - 108,924,856 (+)NCBIMGSCv36mm8
Celera5105,791,051 - 105,807,497 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map553.24NCBI
Idua
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8141,175,994 - 1,203,913 (-)NCBIGRCr8
mRatBN7.2141,031,588 - 1,059,494 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl141,032,171 - 1,046,522 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx14932,006 - 946,365 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0142,233,783 - 2,248,142 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.014930,476 - 944,835 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0142,041,828 - 2,056,762 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl142,042,411 - 2,056,762 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0142,037,369 - 2,052,405 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera141,071,517 - 1,085,862 (-)NCBICelera
Cytogenetic Map14p22NCBI
Idua
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955514475,731 - 488,007 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955514474,830 - 488,007 (+)NCBIChiLan1.0ChiLan1.0
IDUA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v231,315,303 - 1,334,024 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan141,282,815 - 1,304,372 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v041,102,288 - 1,120,973 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.141,020,519 - 1,037,990 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl41,020,582 - 1,037,877 (+)Ensemblpanpan1.1panPan2
IDUA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1391,517,225 - 91,534,593 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl391,522,035 - 91,534,593 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha393,988,643 - 94,001,108 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0392,515,340 - 92,532,617 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl392,519,804 - 92,532,813 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1391,693,928 - 91,706,431 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0391,746,826 - 91,759,387 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0392,130,626 - 92,143,201 (-)NCBIUU_Cfam_GSD_1.0
Idua
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528568,493,659 - 68,512,811 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647722,200,474 - 22,215,077 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647722,200,471 - 22,215,473 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IDUA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8334,617 - 351,969 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18334,604 - 351,970 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
IDUA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12747,778,220 - 47,794,435 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2747,778,335 - 47,794,352 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366680862,223 - 78,429 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Idua
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475526,154,186 - 26,169,365 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475526,151,302 - 26,169,324 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IDUA
1772 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022042.4(SLC26A1):c.829G>A (p.Ala277Thr) single nucleotide variant not provided [RCV000958730] Chr4:990110 [GRCh38]
Chr4:983898 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter) single nucleotide variant not provided [RCV000520313] Chr4:1004345 [GRCh38]
Chr4:998133 [GRCh37]
Chr4:4p16.3		 likely pathogenic
IDUA, 1-BP DEL, 1702G deletion Hurler syndrome [RCV000012687] Chr4:4p16.3 pathogenic
IDUA, IVS5AS, G-A, -7 single nucleotide variant Mucopolysaccharidosis, MPS-I-S [RCV000012688] Chr4:4p16.3 pathogenic
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) duplication Hurler syndrome [RCV000012696]|Mucopolysaccharidosis type 1 [RCV000208610] Chr4:1001700..1001701 [GRCh38]
Chr4:995488..995489 [GRCh37]
Chr4:4p16.3		 pathogenic
IDUA, IVS2AS, C-G, -3 single nucleotide variant Mucopolysaccharidosis, MPS-I-H/S [RCV000012701] Chr4:4p16.3 pathogenic
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) single nucleotide variant Hurler syndrome [RCV000012683]|IDUA-related disorder [RCV003398488]|Inborn genetic diseases [RCV002512986]|Mucopolysaccharidosis type 1 [RCV000384297]|Mucopolysaccharidosis, MPS-I-H/S [RCV001004934]|Mucopolysaccharidosis, MPS-I-S [RCV000477890]|See cases [RCV002251896]|not provided [RCV000078374] Chr4:1002747 [GRCh38]
Chr4:996535 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) single nucleotide variant Hurler syndrome [RCV000012684]|IDUA-related disorder [RCV003390671]|Interstitial pneumonitis [RCV001526587]|Mucopolysaccharidosis [RCV003488336]|Mucopolysaccharidosis type 1 [RCV000276574]|Mucopolysaccharidosis, MPS-I-H/S [RCV000185562]|Mucopolysaccharidosis, MPS-I-S [RCV000185563]|Mucopolysaccharidosis, MPS-I-S [RCV000763532]|not provided [RCV000790700] Chr4:987858 [GRCh38]
Chr4:981646 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) single nucleotide variant Hurler syndrome [RCV000012685]|Inborn genetic diseases [RCV001267070]|Mucopolysaccharidosis type 1 [RCV000208595]|Mucopolysaccharidosis, MPS-I-S [RCV000763533]|Mucopolysaccharidosis, MPS-I-S [RCV004595880]|not provided [RCV000486848] Chr4:1003418 [GRCh38]
Chr4:997206 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) single nucleotide variant Hurler syndrome [RCV000012689]|Mucopolysaccharidosis type 1 [RCV001851807]|not provided [RCV003137513] Chr4:987842 [GRCh38]
Chr4:981630 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter) single nucleotide variant Hurler syndrome [RCV000012690] Chr4:1002117 [GRCh38]
Chr4:995905 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro) single nucleotide variant Hurler syndrome [RCV000012691] Chr4:1002392 [GRCh38]
Chr4:996180 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) single nucleotide variant Hurler syndrome [RCV000012692]|Mucopolysaccharidosis type 1 [RCV000780350]|Mucopolysaccharidosis, MPS-I-S [RCV002496329]|not provided [RCV001781251] Chr4:1004292 [GRCh38]
Chr4:998080 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001851808]|Mucopolysaccharidosis, MPS-I-S [RCV000012693]|not provided [RCV001781252] Chr4:1003108 [GRCh38]
Chr4:996896 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) single nucleotide variant Hurler syndrome [RCV000173657]|Mucopolysaccharidosis type 1 [RCV001204340]|Mucopolysaccharidosis, MPS-I-H/S [RCV000012694]|not provided [RCV000790664] Chr4:1003102 [GRCh38]
Chr4:996890 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000208602]|Mucopolysaccharidosis, MPS-I-H/S [RCV000012695] Chr4:1004391 [GRCh38]
Chr4:998179 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) single nucleotide variant Hurler syndrome [RCV000169784]|Mucopolysaccharidosis type 1 [RCV000208598]|Mucopolysaccharidosis, MPS-I-H/S [RCV000012697] Chr4:987916 [GRCh38]
Chr4:981704 [GRCh37]
Chr4:4p16.3		 pathogenic|not provided
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) single nucleotide variant Hurler syndrome [RCV000667026]|IDUA pseudodeficiency [RCV000012698]|Mucopolysaccharidosis type 1 [RCV001206227]|not provided [RCV003129751] Chr4:1002087 [GRCh38]
Chr4:995875 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) single nucleotide variant Hurler syndrome [RCV000666715]|Mucopolysaccharidosis type 1 [RCV003591628]|Mucopolysaccharidosis, MPS-I-H/S [RCV000012699] Chr4:1004286 [GRCh38]
Chr4:998074 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) single nucleotide variant Hurler syndrome [RCV000984188]|Mucopolysaccharidosis type 1 [RCV000588505]|Mucopolysaccharidosis, MPS-I-H/S [RCV000012700]|not provided [RCV003488337] Chr4:1002387 [GRCh38]
Chr4:996175 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) single nucleotide variant Hurler syndrome [RCV000012703]|Mucopolysaccharidosis type 1 [RCV001248726]|Mucopolysaccharidosis, MPS-I-H/S [RCV000012702] Chr4:1002333 [GRCh38]
Chr4:996121 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) single nucleotide variant Hurler syndrome [RCV000087088]|Mucopolysaccharidosis type 1 [RCV002515779]|not provided [RCV003129777] Chr4:1004305 [GRCh38]
Chr4:998093 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000050809] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1405362)x3 copy number gain See cases [RCV000051563] Chr4:72555..1405362 [GRCh38]
Chr4:72447..1399150 [GRCh37]
Chr4:62447..1389150 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 copy number loss See cases [RCV000051638] Chr4:56878..2213205 [GRCh38]
Chr4:56772..2214932 [GRCh37]
Chr4:46772..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] Chr4:72355..2108748 [GRCh38]
Chr4:72247..2110475 [GRCh37]
Chr4:62247..2080273 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 copy number loss See cases [RCV000051640] Chr4:72355..2400359 [GRCh38]
Chr4:72247..2402086 [GRCh37]
Chr4:62247..2371884 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) single nucleotide variant Hurler syndrome [RCV000173082]|Mucopolysaccharidosis type 1 [RCV000208594]|Mucopolysaccharidosis, MPS-I-S [RCV002505243]|not provided [RCV000723421] Chr4:987236 [GRCh38]
Chr4:981024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] Chr4:72555..2009034 [GRCh38]
Chr4:72447..2010761 [GRCh37]
Chr4:62447..1980559 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 copy number loss See cases [RCV000051643] Chr4:72555..2325477 [GRCh38]
Chr4:72447..2327204 [GRCh37]
Chr4:62447..2297002 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 copy number loss See cases [RCV000053259] Chr4:85149..1919505 [GRCh38]
Chr4:85040..1921232 [GRCh37]
Chr4:75040..1891030 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 copy number loss See cases [RCV000053260] Chr4:85149..2008535 [GRCh38]
Chr4:85040..2010262 [GRCh37]
Chr4:75040..1980060 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 copy number loss See cases [RCV000053261] Chr4:336191..2213205 [GRCh38]
Chr4:507005..2214932 [GRCh37]
Chr4:319980..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
NM_134425.2(SLC26A1):c.107G>A (p.Trp36Ter) single nucleotide variant Malignant melanoma [RCV000061076] Chr4:991597 [GRCh38]
Chr4:985385 [GRCh37]
Chr4:975385 [NCBI36]
Chr4:4p16.3		 not provided
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001248916]|not provided [RCV000180110] Chr4:1002341 [GRCh38]
Chr4:996129 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) single nucleotide variant Hurler syndrome [RCV001526424]|Mucopolysaccharidosis type 1 [RCV000332794]|not provided [RCV000675607]|not specified [RCV000078371] Chr4:1002377 [GRCh38]
Chr4:996165 [GRCh37]
Chr4:4p16.3		 pathogenic|benign
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000382727]|not provided [RCV000590482]|not specified [RCV000078372] Chr4:1002460 [GRCh38]
Chr4:996248 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.1190-10dup duplication Mucopolysaccharidosis type 1 [RCV001276018]|not provided [RCV000586922]|not specified [RCV000078373] Chr4:1002713..1002714 [GRCh38]
Chr4:996501..996502 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) single nucleotide variant Hurler syndrome [RCV000722002]|Mucopolysaccharidosis type 1 [RCV000327434]|not provided [RCV000418377]|not specified [RCV000078375] Chr4:1002767 [GRCh38]
Chr4:996555 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000282790]|not provided [RCV000675610]|not specified [RCV000078376] Chr4:1002772 [GRCh38]
Chr4:996560 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.1302G>C (p.Trp434Cys) single nucleotide variant not provided [RCV000078377] Chr4:1002844 [GRCh38]
Chr4:996632 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) single nucleotide variant Hurler syndrome [RCV001543881]|Mucopolysaccharidosis type 1 [RCV000390914]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543882]|Mucopolysaccharidosis, MPS-I-S [RCV001543883]|not provided [RCV000675611]|not specified [RCV000078378] Chr4:1002902 [GRCh38]
Chr4:996690 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.1402+1G>C single nucleotide variant not provided [RCV000180476] Chr4:1002945 [GRCh38]
Chr4:996733 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) single nucleotide variant Hurler syndrome [RCV003992179]|Mucopolysaccharidosis type 1 [RCV000336503]|not provided [RCV000675612]|not specified [RCV000078380] Chr4:1003100 [GRCh38]
Chr4:996888 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.159-19_160del deletion Mucopolysaccharidosis type 1 [RCV001854377]|not provided [RCV000596533] Chr4:987786..987806 [GRCh38]
Chr4:981578..981598 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_000203.5(IDUA):c.1650+5G>A single nucleotide variant Hurler syndrome [RCV000173987]|Mucopolysaccharidosis type 1 [RCV001387944]|not provided [RCV000790663] Chr4:1003475 [GRCh38]
Chr4:997263 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001854378]|not specified [RCV000078384] Chr4:1004055 [GRCh38]
Chr4:997843 [GRCh37]
Chr4:4p16.3		 benign|uncertain significance
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) deletion Mucopolysaccharidosis type 1 [RCV000588926]|not provided [RCV000174452] Chr4:1004083 [GRCh38]
Chr4:997871 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.246C>G (p.His82Gln) single nucleotide variant Hurler syndrome [RCV000664463]|Inborn genetic diseases [RCV002453397]|Mucopolysaccharidosis type 1 [RCV000208604]|not provided [RCV000078387]|not specified [RCV000245681] Chr4:987896 [GRCh38]
Chr4:987896..987897 [GRCh38]
Chr4:981684 [GRCh37]
Chr4:981684..981685 [GRCh37]
Chr4:4p16.3		 benign|likely benign|uncertain significance|other|not provided
NM_000203.5(IDUA):c.24C>A (p.Ala8=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000336095]|not provided [RCV000675596]|not specified [RCV000078388] Chr4:987108 [GRCh38]
Chr4:987108..987109 [GRCh38]
Chr4:980896 [GRCh37]
Chr4:980896..980897 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.299+1G>T single nucleotide variant Hurler syndrome [RCV000175551]|Mucopolysaccharidosis type 1 [RCV001249024]|not provided [RCV000790824] Chr4:987950 [GRCh38]
Chr4:981738 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.299+6C>T single nucleotide variant Calcium oxalate urolithiasis [RCV002490675]|Hurler syndrome [RCV000987389]|Mucopolysaccharidosis type 1 [RCV000308359]|not provided [RCV000675599]|not specified [RCV000078390] Chr4:987955 [GRCh38]
Chr4:981743 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) single nucleotide variant Hurler syndrome [RCV001543713]|Mucopolysaccharidosis type 1 [RCV000289071]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543714]|Mucopolysaccharidosis, MPS-I-S [RCV001543715]|not provided [RCV000590281]|not specified [RCV000078391] Chr4:1000626 [GRCh38]
Chr4:994414 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.352C>T (p.Leu118=) single nucleotide variant Hurler syndrome [RCV001543811]|Mucopolysaccharidosis type 1 [RCV000344018]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543812]|Mucopolysaccharidosis, MPS-I-S [RCV001543813]|not provided [RCV000675600]|not specified [RCV000078392] Chr4:1000664 [GRCh38]
Chr4:994452 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) deletion Hurler syndrome [RCV001824122]|IDUA-related disorder [RCV003390774]|Mucopolysaccharidosis type 1 [RCV000208599]|Mucopolysaccharidosis, MPS-I-S [RCV003338408]|not provided [RCV000173083] Chr4:987119..987130 [GRCh38]
Chr4:980907..980918 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter) single nucleotide variant not provided [RCV000178733] Chr4:1001475 [GRCh38]
Chr4:995263 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.543T>C (p.Asn181=) single nucleotide variant Hurler syndrome [RCV001543814]|Mucopolysaccharidosis type 1 [RCV000340349]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543815]|Mucopolysaccharidosis, MPS-I-S [RCV001543816]|not provided [RCV000675602]|not specified [RCV000078395] Chr4:1001517 [GRCh38]
Chr4:995305 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.590-8C>T single nucleotide variant Hurler syndrome [RCV001543820]|Mucopolysaccharidosis type 1 [RCV000404425]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543821]|Mucopolysaccharidosis, MPS-I-S [RCV001543822]|not provided [RCV000589331]|not specified [RCV000078396] Chr4:1001671 [GRCh38]
Chr4:995459 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.60G>A (p.Ala20=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000300994]|not provided [RCV000675597]|not specified [RCV000078397] Chr4:987144 [GRCh38]
Chr4:987144..987145 [GRCh38]
Chr4:980932 [GRCh37]
Chr4:980932..980933 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001854379]|not provided [RCV000078398] Chr4:1001856 [GRCh38]
Chr4:995644 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.891C>T (p.Asn297=) single nucleotide variant Hurler syndrome [RCV001543823]|Inborn genetic diseases [RCV002371925]|Mucopolysaccharidosis type 1 [RCV000262223]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543824]|Mucopolysaccharidosis, MPS-I-S [RCV001543825]|not provided [RCV000675605]|not specified [RCV000078399] Chr4:1002080 [GRCh38]
Chr4:995868 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.942G>C (p.Ala314=) single nucleotide variant Hurler syndrome [RCV001543826]|Mucopolysaccharidosis type 1 [RCV000331543]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543873]|Mucopolysaccharidosis, MPS-I-S [RCV001543874]|not provided [RCV000675606]|not specified [RCV000078400] Chr4:1002131 [GRCh38]
Chr4:995919 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.99T>G (p.His33Gln) single nucleotide variant Hurler syndrome [RCV001544423]|Mucopolysaccharidosis type 1 [RCV000337407]|Mucopolysaccharidosis, MPS-I-H/S [RCV001544424]|Mucopolysaccharidosis, MPS-I-S [RCV001544425]|not provided [RCV000675598]|not specified [RCV000078401] Chr4:987183 [GRCh38]
Chr4:980971 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.299+1627G>A single nucleotide variant Hurler syndrome [RCV000669654]|not provided [RCV000054765] Chr4:989576 [GRCh38]
Chr4:983364 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_022042.4(SLC26A1):c.1406C>T (p.Ala469Val) single nucleotide variant not provided [RCV000054766] Chr4:989533 [GRCh38]
Chr4:983321 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.299+1542A>T single nucleotide variant Hurler syndrome [RCV000665300]|not provided [RCV000054767] Chr4:989491 [GRCh38]
Chr4:983279 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_022042.4(SLC26A1):c.1459G>A (p.Glu487Lys) single nucleotide variant not provided [RCV000054768] Chr4:989480 [GRCh38]
Chr4:983268 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.1633C>T (p.Pro545Ser) single nucleotide variant not provided [RCV000054771] Chr4:989306 [GRCh38]
Chr4:983094 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.299+1279C>T single nucleotide variant Hurler syndrome [RCV000664747]|not provided [RCV000054773] Chr4:989228 [GRCh38]
Chr4:983016 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000203.5(IDUA):c.299+1104G>A single nucleotide variant Hurler syndrome [RCV000666384]|not provided [RCV000054774] Chr4:989053 [GRCh38]
Chr4:982841 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_022042.4(SLC26A1):c.226G>A (p.Gly76Arg) single nucleotide variant not provided [RCV000054776] Chr4:991478 [GRCh38]
Chr4:985266 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.299+3322C>T single nucleotide variant Hurler syndrome [RCV000668552]|not provided [RCV000054778] Chr4:991271 [GRCh38]
Chr4:985059 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_022042.4(SLC26A1):c.1509C>T (p.Gly503=) single nucleotide variant not provided [RCV000054769] Chr4:989430 [GRCh38]
Chr4:983218 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) single nucleotide variant Hurler syndrome [RCV000668547]|Mucopolysaccharidosis type 1 [RCV001156295]|not provided [RCV000054763] Chr4:987849 [GRCh38]
Chr4:981637 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro) single nucleotide variant Calcium oxalate urolithiasis [RCV002483079]|not provided [RCV000054764] Chr4:989896 [GRCh38]
Chr4:983684 [GRCh37]
Chr4:4p16.3		 benign|likely benign|uncertain significance
NM_000203.5(IDUA):c.299+1368C>T single nucleotide variant Calcium oxalate urolithiasis [RCV002496731]|Inborn genetic diseases [RCV002513714]|not provided [RCV000054770] Chr4:989317 [GRCh38]
Chr4:983105 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met) single nucleotide variant Calcium oxalate urolithiasis [RCV002477180]|not provided [RCV000054772] Chr4:989254 [GRCh38]
Chr4:983042 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) single nucleotide variant Calcium oxalate urolithiasis [RCV002496732]|SLC26A1-related disorder [RCV003952478]|not provided [RCV000054775] Chr4:989033 [GRCh38]
Chr4:982821 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.299+3399C>T single nucleotide variant Hurler syndrome [RCV000665823]|not provided [RCV000054777] Chr4:991348 [GRCh38]
Chr4:985136 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr) single nucleotide variant not provided [RCV000054779] Chr4:990208 [GRCh38]
Chr4:983996 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys) single nucleotide variant not provided [RCV000054780] Chr4:990179 [GRCh38]
Chr4:983967 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000203.5(IDUA):c.1651-6C>T single nucleotide variant Mucopolysaccharidosis type 1 [RCV001494550] Chr4:1003543 [GRCh38]
Chr4:997331 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg) single nucleotide variant not provided [RCV000173985] Chr4:1003349 [GRCh38]
Chr4:997137 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.245A>C (p.His82Pro) single nucleotide variant Hurler syndrome [RCV000664739]|Mucopolysaccharidosis type 1 [RCV000779453]|not provided [RCV003129795]|not specified [RCV000175552] Chr4:987895 [GRCh38]
Chr4:981683 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) deletion Hurler syndrome [RCV000175553]|Mucopolysaccharidosis type 1 [RCV001249025]|not provided [RCV000724286] Chr4:987841..987842 [GRCh38]
Chr4:981629..981630 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.494-1G>C single nucleotide variant not provided [RCV000178734] Chr4:1001467 [GRCh38]
Chr4:995255 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.972+1G>A single nucleotide variant Mucopolysaccharidosis type 1 [RCV003591695]|not provided [RCV000179734] Chr4:1002162 [GRCh38]
Chr4:995950 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) single nucleotide variant Hurler syndrome [RCV000592086]|Mucopolysaccharidosis type 1 [RCV001248919]|not provided [RCV000724295] Chr4:987137 [GRCh38]
Chr4:980925 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.618G>A (p.Ser206=) single nucleotide variant Inborn genetic diseases [RCV002357102]|Mucopolysaccharidosis type 1 [RCV001302700]|not provided [RCV003130248] Chr4:1001707 [GRCh38]
Chr4:995495 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3(chr4:958618-1026629)x3 copy number gain See cases [RCV000134620] Chr4:958618..1026629 [GRCh38]
Chr4:952406..1020417 [GRCh37]
Chr4:942406..1010417 [NCBI36]
Chr4:4p16.3		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 4p16.3(chr4:975137-1026629)x3 copy number gain See cases [RCV000134630] Chr4:975137..1026629 [GRCh38]
Chr4:968925..1020417 [GRCh37]
Chr4:958925..1010417 [NCBI36]
Chr4:4p16.3		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:620566-1405362)x3 copy number gain See cases [RCV000135648] Chr4:620566..1405362 [GRCh38]
Chr4:614355..1399150 [GRCh37]
Chr4:604355..1389150 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1153038)x1 copy number loss See cases [RCV000137135] Chr4:72555..1153038 [GRCh38]
Chr4:72447..1146826 [GRCh37]
Chr4:62447..1136826 [NCBI36]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh38/hg38 4p16.3(chr4:51519-1405362)x1 copy number loss See cases [RCV000136895] Chr4:51519..1405362 [GRCh38]
Chr4:51413..1399150 [GRCh37]
Chr4:41413..1389150 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1581567)x3 copy number gain See cases [RCV000137386] Chr4:36424..1581567 [GRCh38]
Chr4:36424..1583294 [GRCh37]
Chr4:26424..1553260 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1581567)x1 copy number loss See cases [RCV000139439] Chr4:72555..1581567 [GRCh38]
Chr4:72447..1583294 [GRCh37]
Chr4:62447..1553260 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:958677-1026629)x4 copy number gain See cases [RCV000140384] Chr4:958677..1026629 [GRCh38]
Chr4:952465..1020417 [GRCh37]
Chr4:942465..1010417 [NCBI36]
Chr4:4p16.3		 benign
GRCh38/hg38 4p16.3(chr4:975137-1026688)x3 copy number gain See cases [RCV000140418] Chr4:975137..1026688 [GRCh38]
Chr4:968925..1020476 [GRCh37]
Chr4:958925..1010476 [NCBI36]
Chr4:4p16.3		 benign
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 copy number loss See cases [RCV000141882] Chr4:68453..1997458 [GRCh38]
Chr4:68345..1999185 [GRCh37]
Chr4:58345..1968983 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1562150)x1 copy number loss See cases [RCV000143217] Chr4:36424..1562150 [GRCh38]
Chr4:36424..1563877 [GRCh37]
Chr4:26424..1533937 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 copy number loss See cases [RCV000143172] Chr4:36424..1956092 [GRCh38]
Chr4:36424..1957819 [GRCh37]
Chr4:26424..1927617 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) single nucleotide variant Calcium oxalate urolithiasis [RCV002500480]|Hurler syndrome [RCV000674553]|Mucopolysaccharidosis type 1 [RCV000708549]|not provided [RCV000422439]|not specified [RCV001194419] Chr4:987885 [GRCh38]
Chr4:981673 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|other
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000148263] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.164del (p.Pro55fs) deletion not provided [RCV000175549] Chr4:987809 [GRCh38]
Chr4:981597 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) single nucleotide variant Hurler syndrome [RCV000180108]|Mucopolysaccharidosis type 1 [RCV000208605]|not provided [RCV000790804] Chr4:1002275 [GRCh38]
Chr4:996063 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.1614del (p.His539fs) deletion Hurler syndrome [RCV000173986]|Mucopolysaccharidosis type 1 [RCV001248893]|Mucopolysaccharidosis, MPS-I-S [RCV002498729]|not provided [RCV000790661] Chr4:1003434 [GRCh38]
Chr4:997222 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) single nucleotide variant Hurler syndrome [RCV000597524]|Mucopolysaccharidosis type 1 [RCV001249042]|not provided [RCV000723454] Chr4:1002459 [GRCh38]
Chr4:996247 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.1190-17_1190-16insA insertion Mucopolysaccharidosis type 1 [RCV001523427]|not provided [RCV001571241]|not specified [RCV000180475] Chr4:1002715..1002716 [GRCh38]
Chr4:996503..996504 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000290331]|not provided [RCV000177017] Chr4:1000679 [GRCh38]
Chr4:994467 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000203.5(IDUA):c.876del (p.Asp292fs) deletion Hurler syndrome [RCV001007594]|Inborn genetic diseases [RCV001266574]|Mucopolysaccharidosis type 1 [RCV000547146]|not provided [RCV001788278] Chr4:1002065 [GRCh38]
Chr4:995853 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) single nucleotide variant Hurler syndrome [RCV001169956]|Mucopolysaccharidosis type 1 [RCV000208592] Chr4:1002325 [GRCh38]
Chr4:996113 [GRCh37]
Chr4:4p16.3		 pathogenic|not provided
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) single nucleotide variant Hurler syndrome [RCV000672514]|Mucopolysaccharidosis type 1 [RCV000208593]|Mucopolysaccharidosis, MPS-I-S [RCV002500671]|not provided [RCV000592964] Chr4:1001742 [GRCh38]
Chr4:995530 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001956540]|not provided [RCV003130640] Chr4:987886 [GRCh38]
Chr4:981674 [GRCh37]
Chr4:4p16.3		 pathogenic|benign|uncertain significance
NM_000203.5(IDUA):c.590-7G>A single nucleotide variant Hurler syndrome [RCV000669065]|Mucopolysaccharidosis type 1 [RCV000208601]|Mucopolysaccharidosis, MPS-I-S [RCV000012688]|not provided [RCV003137798] Chr4:1001672 [GRCh38]
Chr4:995460 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.386-2A>G single nucleotide variant Hurler syndrome [RCV000666721]|Mucopolysaccharidosis type 1 [RCV000208607]|Mucopolysaccharidosis, MPS-I-H/S [RCV002288837]|not provided [RCV001550709] Chr4:1000880 [GRCh38]
Chr4:994668 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) single nucleotide variant Hurler syndrome [RCV000674701]|Inborn genetic diseases [RCV004020565]|Mucopolysaccharidosis type 1 [RCV000208612]|not provided [RCV004710585] Chr4:1002154 [GRCh38]
Chr4:995942 [GRCh37]
Chr4:4p16.3		 benign|likely benign|other
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) single nucleotide variant Hurler syndrome [RCV000670756]|Mucopolysaccharidosis type 1 [RCV000208613]|not provided [RCV001781626] Chr4:987873 [GRCh38]
Chr4:981661 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) single nucleotide variant Hurler syndrome [RCV000211578]|Mucopolysaccharidosis type 1 [RCV003591715]|not provided [RCV003129812] Chr4:1001497 [GRCh38]
Chr4:995285 [GRCh37]
Chr4:4p16.3		 likely pathogenic|uncertain significance
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) duplication Hurler syndrome [RCV000211625] Chr4:1001697..1001698 [GRCh38]
Chr4:995485..995486 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del) deletion Hurler syndrome [RCV000670003] Chr4:1002907..1002930 [GRCh38]
Chr4:996695..996718 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.299+1363dup duplication Hurler syndrome [RCV000670537] Chr4:989306..989307 [GRCh38]
Chr4:983094..983095 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000203.5(IDUA):c.850C>A (p.Arg284=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001493747] Chr4:1002039 [GRCh38]
Chr4:995827 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) deletion Hurler syndrome [RCV000669732]|Mucopolysaccharidosis type 1 [RCV001855526] Chr4:1003057..1003059 [GRCh38]
Chr4:996845..996847 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) single nucleotide variant Calcium oxalate urolithiasis [RCV000234843]|SLC26A1-related disorder [RCV004755826]|not provided [RCV000681878] Chr4:991150 [GRCh38]
Chr4:984938 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) single nucleotide variant Calcium oxalate urolithiasis [RCV000234844]|SLC26A1-related disorder [RCV004755827]|not provided [RCV000681877] Chr4:989866 [GRCh38]
Chr4:983654 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022042.4(SLC26A1):c.166G>A (p.Ala56Thr) single nucleotide variant Calcium oxalate urolithiasis [RCV002487094]|not provided [RCV000234845] Chr4:991538 [GRCh38]
Chr4:985326 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_000203.5(IDUA):c.1650+1G>A single nucleotide variant Hurler syndrome [RCV000669579] Chr4:1003471 [GRCh38]
Chr4:997259 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) single nucleotide variant Hurler syndrome [RCV000669801]|Inborn genetic diseases [RCV001265722]|Mucopolysaccharidosis type 1 [RCV000916227]|not provided [RCV003133497]|not specified [RCV001375507] Chr4:1001846 [GRCh38]
Chr4:995634 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) duplication Hurler syndrome [RCV000669996] Chr4:1000983..1000984 [GRCh38]
Chr4:994771..994772 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del) deletion Hurler syndrome [RCV000668803] Chr4:1002271..1002276 [GRCh38]
Chr4:996059..996064 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) indel Hurler syndrome [RCV000669455]|Mucopolysaccharidosis type 1 [RCV001192506] Chr4:987144..987145 [GRCh38]
Chr4:980932..980933 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) single nucleotide variant Hurler syndrome [RCV000669885]|Mucopolysaccharidosis, MPS-I-S [RCV002507168] Chr4:987240 [GRCh38]
Chr4:981028 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) single nucleotide variant Hurler syndrome [RCV000668685]|Mucopolysaccharidosis type 1 [RCV001248917]|not provided [RCV000595653] Chr4:1002112 [GRCh38]
Chr4:995900 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.1897del (p.Ser633fs) deletion Hurler syndrome [RCV000669435]|Mucopolysaccharidosis type 1 [RCV001224049] Chr4:1004328 [GRCh38]
Chr4:998116 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.1403-14G>T single nucleotide variant Mucopolysaccharidosis type 1 [RCV000286329]|not provided [RCV001651114]|not specified [RCV000253374] Chr4:1003022 [GRCh38]
Chr4:996810 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.300-44C>T single nucleotide variant Mucopolysaccharidosis type 1 [RCV001833261]|not provided [RCV001668419]|not specified [RCV000246187] Chr4:1000568 [GRCh38]
Chr4:994356 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.1402+36T>C single nucleotide variant Hurler syndrome [RCV001543884]|Mucopolysaccharidosis type 1 [RCV001828131]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543885]|Mucopolysaccharidosis, MPS-I-S [RCV001543886]|not provided [RCV001618373]|not specified [RCV000248587] Chr4:1002980 [GRCh38]
Chr4:996768 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.1524+41G>T single nucleotide variant Mucopolysaccharidosis type 1 [RCV001833260]|not provided [RCV001689781]|not specified [RCV000248652] Chr4:1003198 [GRCh38]
Chr4:996986 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.590-45G>C single nucleotide variant Hurler syndrome [RCV001543817]|Mucopolysaccharidosis type 1 [RCV001833262]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543818]|Mucopolysaccharidosis, MPS-I-S [RCV001543819]|not provided [RCV001689782]|not specified [RCV000241615] Chr4:1001634 [GRCh38]
Chr4:995422 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.1525-38T>C single nucleotide variant Mucopolysaccharidosis type 1 [RCV001276020]|Mucopolysaccharidosis, MPS-I-H/S [RCV001544063]|not provided [RCV000840480]|not specified [RCV000253822] Chr4:1003307 [GRCh38]
Chr4:997095 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000203.5(IDUA):c.972+48A>G single nucleotide variant Hurler syndrome [RCV001543875]|Mucopolysaccharidosis type 1 [RCV001833263]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543876]|Mucopolysaccharidosis, MPS-I-S [RCV001543877]|not provided [RCV001658160]|not specified [RCV000246906] Chr4:1002209 [GRCh38]
Chr4:995997 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) single nucleotide variant Hurler syndrome [RCV000668680]|IDUA-related disorder [RCV004751408]|Mucopolysaccharidosis type 1 [RCV000802940]|not provided [RCV000256027] Chr4:1001802 [GRCh38]
Chr4:995590 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.973-45G>C single nucleotide variant Hurler syndrome [RCV001543878]|Mucopolysaccharidosis type 1 [RCV001828132]|Mucopolysaccharidosis, MPS-I-H/S [RCV001543879]|Mucopolysaccharidosis, MPS-I-S [RCV001543880]|not provided [RCV001682962]|not specified [RCV000252067] Chr4:1002224 [GRCh38]
Chr4:996012 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000203.5(IDUA):c.493+31C>T single nucleotide variant not specified [RCV000247907] Chr4:1001020 [GRCh38]
Chr4:994808 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) single nucleotide variant Inborn genetic diseases [RCV002379241]|Mucopolysaccharidosis type 1 [RCV000277691] Chr4:1002327 [GRCh38]
Chr4:996115 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.1728-9C>T single nucleotide variant Hurler syndrome [RCV000664803]|IDUA-related disorder [RCV003950238]|Mucopolysaccharidosis type 1 [RCV000301469] Chr4:1004003 [GRCh38]
Chr4:997791 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000356974] Chr4:1002003 [GRCh38]
Chr4:995791 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) single nucleotide variant Hurler syndrome [RCV000337972]|Mucopolysaccharidosis type 1 [RCV000780351]|not provided [RCV000723407] Chr4:1004286 [GRCh38]
Chr4:998074 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000288834]|not provided [RCV000675608]|not specified [RCV000591138] Chr4:1002470 [GRCh38]
Chr4:996258 [GRCh37]
Chr4:4p16.3		 benign|likely benign|uncertain significance
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) single nucleotide variant IDUA-related disorder [RCV003912489]|Inborn genetic diseases [RCV004021975]|Mucopolysaccharidosis type 1 [RCV000340208]|not provided [RCV000596643]|not specified [RCV000999899] Chr4:1002887 [GRCh38]
Chr4:996675 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.663C>G (p.Pro221=) single nucleotide variant Inborn genetic diseases [RCV002365416]|Mucopolysaccharidosis type 1 [RCV000360253] Chr4:1001752 [GRCh38]
Chr4:995540 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.630C>T (p.Arg210=) single nucleotide variant Inborn genetic diseases [RCV003298408]|Mucopolysaccharidosis type 1 [RCV000305549]|not provided [RCV003437114] Chr4:1001719 [GRCh38]
Chr4:995507 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) single nucleotide variant IDUA-related disorder [RCV003922541]|Inborn genetic diseases [RCV002392913]|Mucopolysaccharidosis type 1 [RCV000367501] Chr4:1002298 [GRCh38]
Chr4:996086 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) single nucleotide variant Inborn genetic diseases [RCV002392914]|Mucopolysaccharidosis type 1 [RCV000390925]|not provided [RCV000675613] Chr4:1003112 [GRCh38]
Chr4:996900 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000391892]|not provided [RCV001573291] Chr4:1000677 [GRCh38]
Chr4:994465 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.130C>A (p.Arg44=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000311749] Chr4:987214 [GRCh38]
Chr4:981002 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.248G>A (p.Arg83His) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000371057] Chr4:987898 [GRCh38]
Chr4:981686 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.793-9C>T single nucleotide variant Mucopolysaccharidosis type 1 [RCV000297551] Chr4:1001973 [GRCh38]
Chr4:995761 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp) single nucleotide variant not provided [RCV000372871] Chr4:989327 [GRCh38]
Chr4:983115 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) single nucleotide variant Hurler syndrome [RCV000670067]|not provided [RCV000306289] Chr4:987949 [GRCh38]
Chr4:981737 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.845A>T (p.Gln282Leu) single nucleotide variant not provided [RCV000341815] Chr4:1002034 [GRCh38]
Chr4:995822 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.299+7G>A single nucleotide variant Hereditary disease [RCV001824135]|Mucopolysaccharidosis type 1 [RCV000631459]|not provided [RCV003430814]|not specified [RCV000313128] Chr4:987956 [GRCh38]
Chr4:981744 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) single nucleotide variant Inborn genetic diseases [RCV001267071]|Mucopolysaccharidosis type 1 [RCV001248897]|not provided [RCV000323838] Chr4:1004329 [GRCh38]
Chr4:998117 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter) single nucleotide variant Calcium oxalate urolithiasis [RCV002487206]|Nephrolithiasis susceptibility caused by SLC26A1 [RCV004760472]|not provided [RCV000315952] Chr4:990192 [GRCh38]
Chr4:983980 [GRCh37]
Chr4:4p16.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser) single nucleotide variant Mucopolysaccharidosis type 1 [RCV002518994]|not provided [RCV000316333] Chr4:1001555 [GRCh38]
Chr4:995343 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.234C>T (p.Gly78=) single nucleotide variant Inborn genetic diseases [RCV002446510]|Mucopolysaccharidosis type 1 [RCV000631460]|not specified [RCV000289453] Chr4:987884 [GRCh38]
Chr4:981672 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000203.5(IDUA):c.1271C>A (p.Ala424Asp) single nucleotide variant not provided [RCV000261698] Chr4:1002813 [GRCh38]
Chr4:996601 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val) single nucleotide variant Mucopolysaccharidosis type 1 [RCV002518880]|not provided [RCV000294693] Chr4:1004056 [GRCh38]
Chr4:997844 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001082638]|not provided [RCV000435479]|not specified [RCV000400163] Chr4:987946 [GRCh38]
Chr4:981734 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.299+3990A>G single nucleotide variant Hurler syndrome [RCV001544426]|Mucopolysaccharidosis, MPS-I-H/S [RCV001544427]|Mucopolysaccharidosis, MPS-I-S [RCV001544428]|not provided [RCV001709736] Chr4:991939 [GRCh38]
Chr4:991939..991940 [GRCh38]
Chr4:985727 [GRCh37]
Chr4:985727..985728 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) single nucleotide variant Inborn genetic diseases [RCV002527033]|Mucopolysaccharidosis type 1 [RCV000708550]|not provided [RCV000675603] Chr4:1001756 [GRCh38]
Chr4:995544 [GRCh37]
Chr4:4p16.3		 benign|likely benign|uncertain significance|other
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys) single nucleotide variant Hurler syndrome [RCV004546627]|Mucopolysaccharidosis type 1 [RCV001278330] Chr4:1002049 [GRCh38]
Chr4:995837 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.557A>G (p.His186Arg) single nucleotide variant Inborn genetic diseases [RCV004619596]|Mucopolysaccharidosis type 1 [RCV001278328] Chr4:1001531 [GRCh38]
Chr4:995319 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.56G>A (p.Arg19Gln) single nucleotide variant Inborn genetic diseases [RCV003244010] Chr4:991648 [GRCh38]
Chr4:985436 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1893del (p.Phe632fs) deletion Hurler syndrome [RCV000984187]|Mucopolysaccharidosis type 1 [RCV000587377] Chr4:1004321 [GRCh38]
Chr4:998109 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000402420] Chr4:987187 [GRCh38]
Chr4:980975 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000403267] Chr4:987128 [GRCh38]
Chr4:980916 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.793-10C>G single nucleotide variant Mucopolysaccharidosis type 1 [RCV000406459] Chr4:1001972 [GRCh38]
Chr4:995760 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.-71C>T single nucleotide variant Mucopolysaccharidosis type 1 [RCV000285802]|Mucopolysaccharidosis, MPS-I-S [RCV002488770] Chr4:987014 [GRCh38]
Chr4:980802 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) single nucleotide variant Hurler syndrome [RCV000592196]|Mucopolysaccharidosis type 1 [RCV001215791]|not provided [RCV000723433] Chr4:1002459 [GRCh38]
Chr4:996247 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.639C>G (p.Ser213Arg) single nucleotide variant not provided [RCV000730456] Chr4:1001728 [GRCh38]
Chr4:995516 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) single nucleotide variant Hurler syndrome [RCV000592777]|Mucopolysaccharidosis type 1 [RCV000780349]|not provided [RCV000723457] Chr4:1003120 [GRCh38]
Chr4:996908 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.590-45G>A single nucleotide variant not provided [RCV000598506] Chr4:1001634 [GRCh38]
Chr4:995422 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del) deletion Mucopolysaccharidosis type 1 [RCV003768180]|not provided [RCV000728653] Chr4:1002772..1002798 [GRCh38]
Chr4:996560..996586 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.1487T>G (p.Leu496Arg) single nucleotide variant Epileptic encephalopathy [RCV000415430] Chr4:989452 [GRCh38]
Chr4:983240 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000533179] Chr4:1004319 [GRCh38]
Chr4:998107 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) single nucleotide variant IDUA-related disorder [RCV003972556]|Inborn genetic diseases [RCV002436237]|Mucopolysaccharidosis type 1 [RCV000970962]|not provided [RCV003133251]|not specified [RCV000412931] Chr4:1002414 [GRCh38]
Chr4:996202 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_022042.4(SLC26A1):c.1549G>A (p.Gly517Arg) single nucleotide variant SLC26A1-related disorder [RCV003925520]|not provided [RCV000513886] Chr4:989390 [GRCh38]
Chr4:983178 [GRCh37]
Chr4:4p16.3		 benign|likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1 copy number loss See cases [RCV000449467] Chr4:68345..2126308 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 copy number loss See cases [RCV000447208] Chr4:68345..2155022 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His) single nucleotide variant Calcium oxalate urolithiasis [RCV002502457]|not provided [RCV000438546] Chr4:989824 [GRCh38]
Chr4:983612 [GRCh37]
Chr4:4p16.3		 benign|likely benign
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 copy number loss See cases [RCV000447910] Chr4:29214..1925508 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.554A>C (p.His185Pro) single nucleotide variant not provided [RCV000482839] Chr4:1001528 [GRCh38]
Chr4:995316 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) single nucleotide variant IDUA-related disorder [RCV003942737]|Mucopolysaccharidosis type 1 [RCV000553823]|Mucopolysaccharidosis, MPS-I-S [RCV001329096]|not provided [RCV001509227] Chr4:1001790 [GRCh38]
Chr4:995578 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys) single nucleotide variant Mucopolysaccharidosis type 1 [RCV002526990]|not provided [RCV000487115] Chr4:1004049 [GRCh38]
Chr4:997837 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001276019]|not provided [RCV000492980] Chr4:1003134 [GRCh38]
Chr4:996922 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001249043]|not provided [RCV000493029] Chr4:1003418 [GRCh38]
Chr4:997206 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|not provided
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) deletion Hurler syndrome [RCV000669453] Chr4:1004295..1004319 [GRCh38]
Chr4:998083..998107 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs) microsatellite Hurler syndrome [RCV000670240] Chr4:1004260..1004261 [GRCh38]
Chr4:998048..998049 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) single nucleotide variant Hurler syndrome [RCV000670254]|Mucopolysaccharidosis type 1 [RCV001855539]|not provided [RCV001784262] Chr4:1001712 [GRCh38]
Chr4:995500 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3(chr4:910410-1798461)x3 copy number gain See cases [RCV000510819] Chr4:910410..1798461 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-1677853)x1 copy number loss See cases [RCV000511217] Chr4:68345..1677853 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_000203.5(IDUA):c.1591del (p.Arg531fs) deletion Hurler syndrome [RCV000672150] Chr4:1003411 [GRCh38]
Chr4:997199 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup) microsatellite Hurler syndrome [RCV000672307] Chr4:1001687..1001688 [GRCh38]
Chr4:995475..995476 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.619G>C (p.Glu207Gln) single nucleotide variant not provided [RCV000586405] Chr4:1001708 [GRCh38]
Chr4:995496 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1584C>T (p.Pro528=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001477735] Chr4:1003404 [GRCh38]
Chr4:997192 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000203.5(IDUA):c.534G>A (p.Glu178=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000631457] Chr4:1001508 [GRCh38]
Chr4:995296 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001083199]|not provided [RCV000833240] Chr4:1003402 [GRCh38]
Chr4:997190 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000203.5(IDUA):c.299+10G>A single nucleotide variant IDUA-related disorder [RCV003905692]|Mucopolysaccharidosis type 1 [RCV000631455] Chr4:987959 [GRCh38]
Chr4:981747 [GRCh37]
Chr4:4p16.3		 likely benign
NM_022042.4(SLC26A1):c.136G>A (p.Val46Ile) single nucleotide variant Inborn genetic diseases [RCV003261268] Chr4:991568 [GRCh38]
Chr4:985356 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.158+1G>A single nucleotide variant Mucopolysaccharidosis type 1 [RCV000631454] Chr4:987243 [GRCh38]
Chr4:981031 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) single nucleotide variant Hurler syndrome [RCV000672057] Chr4:1002456 [GRCh38]
Chr4:996244 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del) indel Mucopolysaccharidosis type 1 [RCV000631452] Chr4:1002772..1002799 [GRCh38]
Chr4:996560..996587 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_022042.4(SLC26A1):c.1874C>T (p.Ala625Val) single nucleotide variant Inborn genetic diseases [RCV003257046] Chr4:989065 [GRCh38]
Chr4:982853 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1364C>T (p.Ala455Val) single nucleotide variant Inborn genetic diseases [RCV003257069] Chr4:1002906 [GRCh38]
Chr4:996694 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1190-10del deletion Mucopolysaccharidosis type 1 [RCV001520158]|not provided [RCV001538450]|not specified [RCV000597117] Chr4:1002714 [GRCh38]
Chr4:996510 [GRCh37]
Chr4:4p16.3		 benign
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs) deletion Hurler syndrome [RCV000672238] Chr4:1004276..1004277 [GRCh38]
Chr4:998064..998065 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) single nucleotide variant Hurler syndrome [RCV000672356]|Mucopolysaccharidosis type 1 [RCV001378363] Chr4:1001510 [GRCh38]
Chr4:995298 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) duplication Hurler syndrome [RCV000670111]|Mucopolysaccharidosis type 1 [RCV001061720]|not provided [RCV001784261] Chr4:1003054..1003055 [GRCh38]
Chr4:996842..996843 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_000203.5(IDUA):c.300-1G>A single nucleotide variant Hurler syndrome [RCV000673460] Chr4:1000611 [GRCh38]
Chr4:994399 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000696467]|Mucopolysaccharidosis, MPS-I-S [RCV002481653]|not provided [RCV000513529] Chr4:1004292 [GRCh38]
Chr4:998080 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) single nucleotide variant Inborn genetic diseases [RCV002528855]|Mucopolysaccharidosis type 1 [RCV000631451]|not provided [RCV003133418] Chr4:987095 [GRCh38]
Chr4:980883 [GRCh37]
Chr4:4p16.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr) single nucleotide variant Mucopolysaccharidosis type 1 [RCV000631453] Chr4:1002273 [GRCh38]
Chr4:996061 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) single nucleotide variant Hurler syndrome [RCV000671961]|Inborn genetic diseases [RCV002532119]|not provided [RCV003133498] Chr4:1002450 [GRCh38]
Chr4:996238 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000203.5(IDUA):c.385+1G>C single nucleotide variant Hurler syndrome [RCV000667145]|Mucopolysaccharidosis type 1 [RCV001387753]|not provided [RCV000675601] Chr4:1000698 [GRCh38]
Chr4:994486 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1479C>G (p.Pro493=) single nucleotide variant Mucopolysaccharidosis type 1 [RCV001456967]|not provided [RCV000675614] Chr4:1003112 [GRCh38]
Chr4:996900 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000203.5(IDUA):c.1728-1G>C single nucleotide variant Mucopolysaccharidosis type 1 [RCV001249440]|Mucopolysaccharidosis, MPS-I-H/S [RCV001810477]|not provided [RCV001592853] Chr4:1004011 [GRCh38]
Chr4:997799 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|not provided
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) single nucleotide variant Hurler syndrome [RCV000673313]|Mucopolysaccharidosis type 1 [RCV001868270]|not provided [RCV001784281] Chr4:1002383 [GRCh38]
Chr4:996171 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance
NM_000203.5(IDUA):c.1524+1G>T single nucleotide variant Hurler syndrome [RCV000670935] Chr4:1003158 [GRCh38]
Chr4:996946 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) single nucleotide variant Hurler syndrome [RCV000672407]|Mucopolysaccharidosis type 1 [RCV001380047]|Mucopolysaccharidosis, MPS-I-S [RCV002499181] Chr4:1004329 [GRCh38]
Chr4:998117 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000203.5(IDUA):c.1828+1G>C single nucleotide variant Hurler syndrome [RCV000672546]|Mucopolysaccharidosis type 1 [RCV002532127] Chr4:1004113 [GRCh38]
Chr4:997901 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000203.5(IDUA):c.1650+2C>G