Total 171 pathogenic variants reported for Hurler syndrome 
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.1225G>C (p.Gly409Arg) SNV
Germline		 Chr4:1002767 Conflicting classifications of pathogenicity not specified
Mucopolysaccharidosis type 1
Condition: not provided
Hurler syndrome		 Criteria Provided
Conflicting Classifications
 CA248659 rs_11934801

13 SubmittersRCV000078375RCV000327434RCV000418377RCV000722002
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) SNV
Germline		 Chr4:987842 Pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256113 rs_121965022

5 SubmittersRCV000012689RCV003137513RCV001851807
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter) SNV
Germline		 Chr4:1002117 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA256115 rs_121965023

2 SubmittersRCV000012690RCV005252031
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro) SNV
Germline		 Chr4:1002392 Pathogenic Hurler syndrome No Assertion Criteria Provided
 CA256117 rs_121965024

1 SubmittersRCV000012691
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.1469T>C (p.Leu490Pro) SNV
Germline		 Chr4:1003102 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220503 rs_121965027

14 SubmittersRCV000012694RCV000173657RCV000790664RCV001204340
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.898G>A (p.Ala300Thr) SNV
Germline		 Chr4:1002087 Conflicting classifications of pathogenicity IDUA PSEUDODEFICIENCY
Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA121772 rs_121965030

5 SubmittersRCV000012698RCV000667026RCV001206227RCV003129751
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) SNV
Germline		 Chr4:1004286 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1
Hurler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256125 rs_121965031

4 SubmittersRCV000012699RCV003591628RCV000666715
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.1650+5G>A SNV
Germline		 Chr4:1003475 Pathogenic/Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220504 rs_398123256

4 SubmittersRCV000173987RCV001387944RCV000790663
NM_000203.5(IDUA):c.246C>G (p.His82Gln) SNV
Germline		 Chr4:987896 Conflicting classifications of pathogenicity; other Condition: not provided
Mucopolysaccharidosis type 1
not specified
Hurler syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA220506 rs_148775298

12 SubmittersRCV000078387RCV000208604RCV000245681RCV000664463RCV002453397
NM_000203.5(IDUA):c.299+1G>T SNV
Germline		 Chr4:987950 Pathogenic/Likely pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220508 rs_398123259

3 SubmittersRCV000175551RCV000790824RCV001249024
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) SNV
Germline		 Chr4:1004305 Conflicting classifications of pathogenicity Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA267584 rs_587779401

4 SubmittersRCV000087088RCV002515779RCV003129777
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.53T>C (p.Leu18Pro) SNV
Germline		 Chr4:987137 Likely pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA238566 rs_794726878

9 SubmittersRCV000592086RCV000724295RCV001248919
NM_000203.5(IDUA):c.245A>C (p.His82Pro) SNV
Germline		 Chr4:987895 Conflicting classifications of pathogenicity not specified
Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA201510 rs_794727239

7 SubmittersRCV000175552RCV000664739RCV000779453RCV003129795
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.1029C>A (p.Tyr343Ter) SNV
Germline		 Chr4:1002325 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome		 Reviewed By Expert Panel
 CA356984 rs_764196171

3 SubmittersRCV000208592RCV001169956
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) SNV
Germline		 Chr4:987873 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA356994 rs_758452450

7 SubmittersRCV000208613RCV000670756RCV001781626
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) SNV
Germline		 Chr4:1001497 Conflicting classifications of pathogenicity Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10576337 rs_875989946

3 SubmittersRCV000211578RCV003591715RCV003129812
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) SNV
Germline		 Chr4:1001802 Pathogenic Condition: not provided
Mucopolysaccharidosis type 1
Hurler syndrome
IDUA-related disorder		 Reviewed By Expert Panel
 CA2802065 rs_148789453

8 SubmittersRCV000256027RCV000802940RCV000668680RCV004751408
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.1728-9C>T SNV
Germline		 Chr4:1004003 Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1
Hurler syndrome
IDUA-related disorder		 Criteria Provided
Conflicting Classifications
 CA2802388 rs_374775605

4 SubmittersRCV000301469RCV000664803RCV003950238
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) SNV
Germline		 Chr4:1002459 Likely pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA91169370 rs_794727896

8 SubmittersRCV000592196RCV000723433RCV001215791
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.493+1G>A SNV
Unknown		 Chr4:1000990 Likely pathogenic Hurler syndrome No Assertion Criteria Provided
 CA355961625 rs_1553916957

1 SubmittersRCV000674369
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) SNV
Germline		 Chr4:1001510 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA355961718 rs_776098539

5 SubmittersRCV000672356RCV001378363
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.1210G>T (p.Glu404Ter) SNV
Germline		 Chr4:1002752 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355963563 rs_1340421020

4 SubmittersRCV000667300RCV000781475
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.548C>G (p.Pro183Arg) SNV
Germline		 Chr4:1001522 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Single Submitter
 CA355961745 rs_1238128027

2 SubmittersRCV000666385RCV002530682
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) SNV
Germline		 Chr4:1002325 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Reviewed By Expert Panel
 CA2802166 rs_764196171

6 SubmittersRCV000665229RCV001387754RCV003140058
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) SNV
Germline		 Chr4:1002340 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2802172 rs_746766617

3 SubmittersRCV000674066RCV000807531RCV001784290
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) SNV
Germline		 Chr4:1002411 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Single Submitter
 CA355963365 rs_1553917304

2 SubmittersRCV000670452RCV002532101
NM_000203.5(IDUA):c.1402+2T>G SNV
Germline		 Chr4:1002946 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA355964392 rs_1553917428

3 SubmittersRCV000668513RCV000807158
NM_000203.5(IDUA):c.1650+1G>A SNV
Unknown		 Chr4:1003471 Likely pathogenic Hurler syndrome No Assertion Criteria Provided
 CA355965139 rs_1434521185

1 SubmittersRCV000669579
NM_000203.5(IDUA):c.1829-2A>G SNV
Germline		 Chr4:1004258 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Single Submitter
 CA355965877 rs_1553917733

2 SubmittersRCV000671680RCV001378536
NM_000203.5(IDUA):c.1829-1G>A SNV
Germline		 Chr4:1004259 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2802451 rs_745915863

4 SubmittersRCV000668161RCV001051181RCV003144471
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) SNV
Germline		 Chr4:1004285 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Single Submitter
 CA355965929 rs_746936485

2 SubmittersRCV000670523RCV003591769
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.300-3C>G SNV
Germline		 Chr4:1000609 Pathogenic Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA549265042 rs_1226056948

4 SubmittersRCV000012701RCV000666654RCV001043397
NM_000203.5(IDUA):c.385+1G>C SNV
Germline		 Chr4:1000698 Pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA2801887 rs_780615798

5 SubmittersRCV000667145RCV000675601RCV001387753
NM_000203.5(IDUA):c.300-1G>A SNV
Unknown		 Chr4:1000611 Likely pathogenic Hurler syndrome No Assertion Criteria Provided
 CA355960965 rs_1553916890

1 SubmittersRCV000673460
NM_000203.5(IDUA):c.494-1G>A SNV
Germline		 Chr4:1001467 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA355961634 rs_794727701

3 SubmittersRCV000674145RCV004800531
NM_000203.5(IDUA):c.589+1G>A SNV
Germline		 Chr4:1001564 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Single Submitter
 CA355961842 rs_1293215555

2 SubmittersRCV000674301RCV001861838
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) SNV
Germline		 Chr4:1001679 Pathogenic Hurler syndrome Criteria Provided
Single Submitter
 CA91167598 rs_770087890

2 SubmittersRCV000670346
NM_000203.5(IDUA):c.793-1G>A SNV
Germline		 Chr4:1001981 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2802097 rs_762779421

4 SubmittersRCV000673620RCV001065448RCV001784285
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.623G>A (p.Gly208Asp) SNV
Germline		 Chr4:1001712 Pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355961948 rs_1430681871

4 SubmittersRCV000670254RCV001784262RCV001855539
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.757G>T (p.Gly253Cys) SNV
Germline		 Chr4:1001846 Conflicting classifications of pathogenicity Hurler syndrome
Mucopolysaccharidosis type 1
Inborn genetic diseases
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2802076 rs_546933529

6 SubmittersRCV000669801RCV000916227RCV001265722RCV001375507RCV003133497
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) SNV
Germline		 Chr4:1002009 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Single Submitter
 CA355962341 rs_1553917192

2 SubmittersRCV000668628RCV001855504
NM_000203.5(IDUA):c.1650+2C>G SNV
Unknown		 Chr4:1003472 Likely pathogenic Hurler syndrome No Assertion Criteria Provided
 CA355965143 rs_1553917580

1 SubmittersRCV000672611
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.1743C>G (p.Tyr581Ter) SNV
Germline		 Chr4:1004027 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Reviewed By Expert Panel
 CA2802392 rs_776787370

6 SubmittersRCV000665761RCV001214746RCV001662734
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) SNV
Germline		 Chr4:1002383 Likely pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA2802184 rs_750496798

5 SubmittersRCV000673313RCV001784281RCV001868270
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.1882C>T (p.Arg628Ter) SNV
Germline		 Chr4:1004313 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2802462 rs_756572099

6 SubmittersRCV000665162RCV001210649RCV003488787
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.1163C>T (p.Thr388Met) SNV
Germline		 Chr4:1002459 Conflicting classifications of pathogenicity Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA355963455 rs_794727896

4 SubmittersRCV000674913RCV001855616RCV003129987
NM_000203.5(IDUA):c.1189+5G>A SNV
Germline		 Chr4:1002490 Likely pathogenic Hurler syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA658823290 rs_1553917318

2 SubmittersRCV000667005RCV001784243
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) SNV
Germline		 Chr4:1002748 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA91169863 rs_991612107

3 SubmittersRCV000671009RCV003591770
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) SNV
Germline		 Chr4:1003120 Likely pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1		 Reviewed By Expert Panel
 CA91170412 rs_772416503

5 SubmittersRCV000666799RCV001756126RCV002530697
NM_000203.5(IDUA):c.1524+1G>T SNV
Unknown		 Chr4:1003158 Likely pathogenic Hurler syndrome No Assertion Criteria Provided
 CA355964830 rs_1553917483

1 SubmittersRCV000670935
NM_000203.5(IDUA):c.1728-2A>G SNV
Germline		 Chr4:1004010 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355965302 rs_1553917699

3 SubmittersRCV000673922RCV001247821RCV001784289
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) SNV
Germline		 Chr4:987085 Pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Single Submitter
 CA355945204 rs_1553914737

3 SubmittersRCV000665207RCV001390269
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) SNV
Germline		 Chr4:987087 Pathogenic/Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355945212 rs_1553914740

4 SubmittersRCV000673251RCV003323676
NM_000203.5(IDUA):c.159-1G>A SNV
Germline		 Chr4:987808 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Single Submitter
 CA355945958 rs_1553914935

2 SubmittersRCV000672729RCV003768000
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.1456G>T (p.Glu486Ter) SNV
Germline		 Chr4:1003089 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355964628 rs_1356329915

3 SubmittersRCV000806468RCV005253138
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_002653.5(PITX1):c.412A>C (p.Lys138Gln) SNV
Germline		 Chr5:135029312 Likely pathogenic Hurler syndrome Criteria Provided
Single Submitter
 CA361028330 rs_1752408637

1 SubmittersRCV001201163
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.525G>A (p.Trp175Ter) SNV
Germline		 Chr4:1001499 Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2801980 rs_776305028

3 SubmittersRCV001264189RCV001335171RCV001880075
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) SNV
Germline		 Chr4:1002084 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355962511 rs_1715120049

4 SubmittersRCV001269274RCV002275339
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) SNV
Germline		 Chr4:1004314 Pathogenic/Likely pathogenic Hurler syndrome
Condition: not provided
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2802464 rs_200448421

4 SubmittersRCV001374701RCV001780270RCV003229620RCV001865868
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.187C>T (p.Gln63Ter) SNV
Germline		 Chr4:987837 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355946148 rs_2153015621

2 SubmittersRCV001390270RCV003238366
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.1889G>A (p.Gly630Asp) SNV
Germline		 Chr4:1004320 Likely pathogenic Hurler syndrome Criteria Provided
Single Submitter
 CA355965989 rs_2153023301

1 SubmittersRCV001806437
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) SNV
Germline		 Chr4:1004299 Pathogenic/Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Familial hypokalemia-hypomagnesemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355965948 rs_2153023287

4 SubmittersRCV001824223RCV001869832RCV004542135
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro) SNV
Germline		 Chr4:1000674 Likely pathogenic Hurler syndrome No Assertion Criteria Provided
 CA355961174 rs_2153021634

1 SubmittersRCV001843996
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.1525-2A>C SNV
Germline		 Chr4:1003343 Likely pathogenic Mucopolysaccharidosis type 1
Hurler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355964856 rs_2153022881

2 SubmittersRCV002043892RCV005256514
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser) SNV
Germline		 Chr4:1001563 Pathogenic/Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355961839 rs_2153021926

2 SubmittersRCV002052114RCV004801138
NM_000203.5(IDUA):c.589+1G>T SNV
Germline		 Chr4:1001564 Likely pathogenic Hurler syndrome Criteria Provided
Single Submitter
 CA355961844 rs_1293215555

1 SubmittersRCV002052213
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) SNV
Germline		 Chr4:1002145 Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355962816 rs_781534097

2 SubmittersRCV002249078RCV003101337
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys) SNV
Germline		 Chr4:1001518 Pathogenic Mucopolysaccharidosis type 1
Hurler syndrome		 Reviewed By Expert Panel
 CA2801988 rs_754154200

3 SubmittersRCV002629390RCV004820929
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.373C>T (p.Gln125Ter) SNV
Germline		 Chr4:1000685 Likely pathogenic Hurler syndrome Criteria Provided
Single Submitter
 CA355961199 rs_2534077620

1 SubmittersRCV003338925
NM_000203.5(IDUA):c.1759C>T (p.Gln587Ter) SNV
Germline		 Chr4:1004043 Pathogenic Hurler syndrome
IDUA-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA355965402 rs_2534102386

2 SubmittersRCV003991057RCV003412415
NM_000203.5(IDUA):c.530T>G (p.Phe177Cys) SNV
Germline		 Chr4:1001504 Pathogenic Hurler syndrome Criteria Provided
Single Submitter
 CA355961707 rs_2534082851

1 SubmittersRCV004437809
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.1873T>G (p.Tyr625Asp) SNV
Germline		 Chr4:1004304 Likely pathogenic Hurler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004821082
NM_000203.5(IDUA):c.494-57G>A SNV
Germline		 Chr4:1001411 Pathogenic Hurler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004823282
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