Total 73 pathogenic variants reported for Mucopolysaccharidosis, MPS-I-S 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) SNV
Germline		 Chr4:1002747 Pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-H/S
See cases
Inborn genetic diseases
IDUA-related disorder
Mucopolysaccharidosis type 1
Hurler syndrome		 Reviewed By Expert Panel
 CA220498 rs_121965019

30 SubmittersRCV000012683RCV000078374RCV000384297RCV000477890RCV001004934RCV002251896RCV002512986RCV003398488RCV005428992
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) SNV
Germline		 Chr4:1003418 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Inborn genetic diseases
Mucopolysaccharidosis, MPS-I-S		 Reviewed By Expert Panel
 CA256112 rs_121965021

17 SubmittersRCV000012685RCV000208595RCV000486848RCV000763533RCV001267070RCV004595880
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) SNV
Germline		 Chr4:1004292 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256118 rs_121965025

9 SubmittersRCV000012692RCV000780350RCV001781251RCV002496329
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) SNV
Germline		 Chr4:1003108 Likely pathogenic Mucopolysaccharidosis, MPS-I-S
Condition: not provided
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256120 rs_121965026

5 SubmittersRCV000012693RCV001781252RCV001851808RCV004795397
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) SNV
Germline		 Chr4:987916 Pathogenic Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Reviewed By Expert Panel
 CA256124 rs_121965029

8 SubmittersRCV000012697RCV000169784RCV000208598RCV005042034
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) SNV
Germline		 Chr4:1002387 Pathogenic Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA256126 rs_121965032

8 SubmittersRCV000012700RCV000588505RCV005031435RCV000984188RCV003488337
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) SNV
Germline		 Chr4:1002333 Pathogenic Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256128 rs_121965033

6 SubmittersRCV000012702RCV000012703RCV001248726RCV005042035
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) SNV
Germline		 Chr4:1002275 Pathogenic/Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA234128 rs_199801029

16 SubmittersRCV000180108RCV000208605RCV000790804RCV005031662
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) SNV
Germline		 Chr4:987236 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Reviewed By Expert Panel
 CA274902 rs_794726877

10 SubmittersRCV000173082RCV000208594RCV000723421RCV002505243
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) SNV
Germline		 Chr4:1002459 Conflicting classifications of pathogenicity Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Conflicting Classifications
 CA247499 rs_794727896

7 SubmittersRCV000597524RCV000723454RCV001249042RCV005042393
NM_000203.5(IDUA):c.386-2A>G SNV
Germline		 Chr4:1000880 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome
Condition: not provided
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Reviewed By Expert Panel
 CA356991 rs_777295041

12 SubmittersRCV000208607RCV000666721RCV001550709RCV002288837RCV005031783
NM_000203.5(IDUA):c.590-7G>A SNV
Germline		 Chr4:1001672 Pathogenic Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis type 1
Hurler syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA356990 rs_762411583

8 SubmittersRCV000012688RCV000208601RCV000669065RCV003137798
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) SNV
Germline		 Chr4:1001742 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome
Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356986 rs_869025584

7 SubmittersRCV000208593RCV000672514RCV000592964RCV002500671
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) SNV
Germline		 Chr4:1004286 Pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-I-H/S		 Reviewed By Expert Panel
 CA2802455 rs_121965031

10 SubmittersRCV000337972RCV000723407RCV000780351RCV005044523
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) SNV
Germline		 Chr4:1001790 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Condition: not provided
IDUA-related disorder		 Criteria Provided
Conflicting Classifications
 CA2802058 rs_201826605

6 SubmittersRCV000553823RCV001329096RCV001509227RCV003942737
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) SNV
Germline		 Chr4:1003120 Likely pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S		 Reviewed By Expert Panel
 CA2802275 rs_772416503

10 SubmittersRCV000592777RCV000723457RCV000780349RCV005044877
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) SNV
Germline		 Chr4:1002112 Conflicting classifications of pathogenicity Condition: not provided
Hurler syndrome
Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Conflicting Classifications
 CA2802119 rs_752337969

6 SubmittersRCV000595653RCV000668685RCV001248917RCV005044895
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) SNV
Germline		 Chr4:1002435 Pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Reviewed By Expert Panel
 CA2802202 rs_762903007

7 SubmittersRCV000665646RCV002263927RCV001861745RCV005046854
NM_000203.5(IDUA):c.1402+1G>A SNV
Germline		 Chr4:1002945 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA355964379 rs_398123254

3 SubmittersRCV000671317RCV005034261RCV005252057
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) SNV
Germline		 Chr4:1004329 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355966010 rs_886043347

6 SubmittersRCV000672407RCV001380047RCV002499181RCV004817901
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) SNV
Germline		 Chr4:1001695 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Reviewed By Expert Panel
 CA355961907 rs_1033313360

7 SubmittersRCV000667572RCV001389275RCV005034245
NM_000203.5(IDUA):c.1190-2A>T SNV
Germline		 Chr4:1002730 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA91169837 rs_994902207

3 SubmittersRCV000672521RCV002493112RCV003754884
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) SNV
Germline		 Chr4:1003606 Pathogenic/Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355965252 rs_1553917627

3 SubmittersRCV000666323RCV002530678RCV005034241
NM_000203.5(IDUA):c.1828+1G>C SNV
Germline		 Chr4:1004113 Pathogenic/Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA91171957 rs_919151683

3 SubmittersRCV000672546RCV002532127RCV005034266
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) SNV
Germline		 Chr4:1002444 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Reviewed By Expert Panel
 CA2802205 rs_754949360

6 SubmittersRCV000674420RCV001233076RCV001784294RCV005046910
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) SNV
Germline		 Chr4:987877 Conflicting classifications of pathogenicity Hurler syndrome
not specified
Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Conflicting Classifications
 CA2801140 rs_780165694

5 SubmittersRCV000667992RCV002222591RCV002532065RCV003133494RCV005034247
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) SNV
Germline		 Chr4:987915 Pathogenic Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2801156 rs_754966840

5 SubmittersRCV000703774RCV001784344RCV002485752
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) SNV
Germline		 Chr4:1002341 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355963146 rs_368454909

4 SubmittersRCV000790541RCV005036124
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) SNV
Germline		 Chr4:1003423 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Conflicting Classifications
 CA355965038 rs_1577543849

2 SubmittersRCV000790542RCV005036125
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) SNV
Germline		 Chr4:987086 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2801095 rs_753767675

3 SubmittersRCV000792346RCV005047056
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) SNV
Germline		 Chr4:1002811 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA91169964 rs_931627770

4 SubmittersRCV001062380RCV001784619RCV002482062
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) SNV
Germline		 Chr4:1004308 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355965968 rs_1456090810

3 SubmittersRCV001193755RCV002497675
NM_000203.5(IDUA):c.1190-10C>A SNV
Germline		 Chr4:1002722 Likely pathogenic Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S		 Reviewed By Expert Panel
 CA1139658405 rs_1443642527

4 SubmittersRCV001222698RCV005036485
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) SNV
Germline		 Chr4:1001468 Conflicting classifications of pathogenicity Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
not specified
Inborn genetic diseases
Mucopolysaccharidosis type 1		 Criteria Provided
Conflicting Classifications
 CA2801966 rs_150763745

5 SubmittersRCV002480846RCV003987813RCV004034891RCV001247276
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) SNV
Germline		 Chr4:1004329 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355966009 rs_886043347

4 SubmittersRCV001380046RCV005038174
NM_000203.5(IDUA):c.603C>G (p.Tyr201Ter) SNV
Germline		 Chr4:1001692 Pathogenic Condition: not provided
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355961899 rs_766574778

2 SubmittersRCV001783464RCV005040374
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) SNV
Germline		 Chr4:1002336 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S
not specified		 Criteria Provided
Conflicting Classifications
 CA91169040 rs_780106243

4 SubmittersRCV001973995RCV003134312RCV005042636RCV003230722
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys) SNV
Germline		 Chr4:1001506 Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355961709 rs_992336192

5 SubmittersRCV002651787RCV003140147RCV005034825
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu) SNV
Germline		 Chr4:1002384 Conflicting classifications of pathogenicity Condition: not provided
not specified
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S		 Criteria Provided
Conflicting Classifications
 CA355963307 rs_1416427527

3 SubmittersRCV003135751RCV004526240RCV005036673
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys) SNV
Germline		 Chr4:1002015 Likely pathogenic IDUA-related core myopathy
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 rs_2534087208

4 SubmittersRCV004587627RCV005038695RCV004690507
NM_000203.5(IDUA):c.723C>A (p.Cys241Ter) SNV
Germline		 Chr4:1001812 Likely pathogenic Mucopolysaccharidosis, MPS-I-S Criteria Provided
Single Submitter

1 SubmittersRCV004819026
NM_000203.5(IDUA):c.275G>A (p.Trp92Ter) SNV
Germline		 Chr4:987925 Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005033102
NM_000203.5(IDUA):c.299+1G>A SNV
Germline		 Chr4:987950 Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005033103
NM_000203.5(IDUA):c.494-2A>G SNV
Germline		 Chr4:1001466 Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005033168
NM_000203.5(IDUA):c.623G>T (p.Gly208Val) SNV
Germline		 Chr4:1001712 Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005033171
NM_000203.5(IDUA):c.1727+5G>A SNV
Germline		 Chr4:1003630 Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033175RCV005112866
NM_000203.5(IDUA):c.1743C>A (p.Tyr581Ter) SNV
Germline		 Chr4:1004027 Pathogenic Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005033176