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 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis, MPS-I-H/S See cases Inborn genetic diseases IDUA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220498	rs_121965019	28 SubmittersRCV000012683 RCV000078374 RCV000384297 RCV000477890 RCV001004934 RCV002251896 RCV002512986 RCV003398488
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	SNV Germline	Chr4:1003418	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Inborn genetic diseases Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA256112	rs_121965021	16 SubmittersRCV000012685 RCV000208595 RCV000486848 RCV000763533 RCV001267070 RCV004595880
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 SubmittersRCV000078375 RCV000327434 RCV000418377 RCV000722002
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 SubmittersRCV000012689 RCV003137513 RCV001851807
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-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA256118	rs_121965025	9 SubmittersRCV000012692 RCV000780350 RCV001781251 RCV002496329
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-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA256120	rs_121965026	5 SubmittersRCV000012693 RCV001781252 RCV001851808 RCV004795397
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 SubmittersRCV000012694 RCV000173657 RCV000790664 RCV001204340
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	SNV Germline	Chr4:1004391	Likely pathogenic	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA256121	rs_387906504	4 SubmittersRCV000012695 RCV000208602
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	SNV Germline	Chr4:987916	Pathogenic	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA256124	rs_121965029	6 SubmittersRCV000012697 RCV000169784 RCV000208598
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 SubmittersRCV000012698 RCV000667026 RCV001206227 RCV003129751
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)	SNV Germline	Chr4:1004286	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA256125	rs_121965031	4 SubmittersRCV000012699 RCV000666715 RCV003591628
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	SNV Germline	Chr4:1002387	Pathogenic	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256126	rs_121965032	6 SubmittersRCV000012700 RCV000588505 RCV000984188 RCV003488337
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	SNV Germline	Chr4:1002333	Pathogenic	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA256128	rs_121965033	5 SubmittersRCV000012702 RCV000012703 RCV001248726
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)	SNV Germline	Chr4:1002341	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA220497	rs_368454909	4 SubmittersRCV000180110 RCV001248916
NM_000203.5(IDUA):c.1650+5G>A	SNV Germline	Chr4:1003475	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA220504	rs_398123256	4 SubmittersRCV000173987 RCV000790663 RCV001387944
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 SubmittersRCV000078387 RCV000208604 RCV000245681 RCV000664463 RCV002453397
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 SubmittersRCV000175551 RCV000790824 RCV001249024
NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)	SNV Germline	Chr4:1001475	Pathogenic	Condition: not provided Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA220511	rs_200726100	2 SubmittersRCV000178733 RCV004948175
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	3 SubmittersRCV000087088 RCV002515779 RCV003129777
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	SNV Germline	Chr4:1002275	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA234128	rs_199801029	15 SubmittersRCV000180108 RCV000208605 RCV000790804
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	SNV Germline	Chr4:987236	Pathogenic	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Condition: not provided Hurler syndrome	Reviewed By Expert Panel	CA274902	rs_794726877	10 SubmittersRCV000208594 RCV002505243 RCV000723421 RCV000173082
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	SNV Germline	Chr4:987137	Conflicting classifications of pathogenicity	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA238566	rs_794726878	7 SubmittersRCV000592086 RCV000724295 RCV001248919
NM_000203.5(IDUA):c.245A>C (p.His82Pro)	SNV Germline	Chr4:987895	Conflicting classifications of pathogenicity	Hurler syndrome not specified Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA201510	rs_794727239	8 SubmittersRCV000664739 RCV000175552 RCV003129795 RCV000779453
NM_000203.5(IDUA):c.972+1G>A	SNV Germline	Chr4:1002162	Pathogenic	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA275387	rs_794727840	2 SubmittersRCV000179734 RCV003591695
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	Criteria Provided Conflicting Classifications	CA247499	rs_794727896	6 SubmittersRCV000597524 RCV000723454 RCV001249042
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	Reviewed By Expert Panel	CA356991	rs_777295041	11 SubmittersRCV000208607 RCV000666721 RCV001550709 RCV002288837
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	Criteria Provided Multiple Submitters No Conflicts	CA356990	rs_762411583	7 SubmittersRCV000012688 RCV000208601 RCV000669065 RCV003137798
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	SNV Germline	Chr4:1001742	Pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA356986	rs_869025584	6 SubmittersRCV000208593 RCV000592964 RCV000672514 RCV002500671
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)	SNV Germline	Chr4:1002325	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Criteria Provided Single Submitter	CA356984	rs_764196171	2 SubmittersRCV000208592 RCV001169956
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	SNV Germline	Chr4:987873	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA356994	rs_758452450	6 SubmittersRCV000208613 RCV000670756 RCV001781626
NM_000203.5(IDUA):c.236C>T (p.Ala79Val)	SNV Germline	Chr4:987886	Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel		rs_747981483	4 SubmittersRCV001956540 RCV003130640
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)	SNV Germline	Chr4:1001497	Conflicting classifications of pathogenicity	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA10576337	rs_875989946	3 SubmittersRCV000211578 RCV003129812 RCV003591715
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	SNV Germline	Chr4:1001802	Pathogenic/Likely pathogenic	Condition: not provided Hurler syndrome Mucopolysaccharidosis type 1 IDUA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2802065	rs_148789453	7 SubmittersRCV000256027 RCV000668680 RCV000802940 RCV004751408
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	SNV Germline	Chr4:1004286	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA2802455	rs_121965031	8 SubmittersRCV000337972 RCV000723407 RCV000780351
NM_000203.5(IDUA):c.234C>T (p.Gly78=)	SNV Germline	Chr4:987884	Conflicting classifications of pathogenicity	not specified Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2801142	rs_138932617	6 SubmittersRCV000289453 RCV000631460 RCV002446510
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)	SNV Germline	Chr4:1004329	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10605410	rs_886043347	6 SubmittersRCV000323838 RCV001248897 RCV001267071
NM_000203.5(IDUA):c.793-9C>T	SNV Germline	Chr4:1001973	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA2802094	rs_375798875	4 SubmittersRCV000297551
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)	SNV Germline	Chr4:1002887	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided IDUA-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2802233	rs_532731688	10 SubmittersRCV000340208 RCV000596643 RCV003912489 RCV000999899 RCV004021975
NM_000203.5(IDUA):c.663C>G (p.Pro221=)	SNV Germline	Chr4:1001752	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2802048	rs_368553582	4 SubmittersRCV000360253 RCV002365416
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)	SNV Germline	Chr4:1002327	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2802168	rs_202191662	4 SubmittersRCV000277691 RCV002379241
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 SubmittersRCV000301469 RCV000664803 RCV003950238
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)	SNV Germline	Chr4:1000677	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2801884	rs_200237798	6 SubmittersRCV000391892 RCV001573291
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)	SNV Germline	Chr4:1002298	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 IDUA-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2802160	rs_370582480	5 SubmittersRCV000367501 RCV003922541 RCV002392913
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)	SNV Germline	Chr4:1003112	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2802271	rs_370394527	5 SubmittersRCV000390925 RCV002392914 RCV000675613
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)	SNV Germline	Chr4:1002414	Conflicting classifications of pathogenicity	not specified Mucopolysaccharidosis type 1 Inborn genetic diseases Condition: not provided IDUA-related disorder	Criteria Provided Conflicting Classifications	CA2802193	rs_140564189	5 SubmittersRCV000412931 RCV000970962 RCV002436237 RCV003133251 RCV003972556
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)	SNV Germline	Chr4:1003418	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA355965029	rs_121965021	4 SubmittersRCV000493029 RCV001249043
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 SubmittersRCV000553823 RCV001329096 RCV001509227 RCV003942737
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)	SNV Germline	Chr4:1002459	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA91169370	rs_794727896	7 SubmittersRCV000592196 RCV000723433 RCV001215791
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)	SNV Germline	Chr4:1003120	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA2802275	rs_772416503	8 SubmittersRCV000592777 RCV000723457 RCV000780349
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	Criteria Provided Conflicting Classifications	CA2802119	rs_752337969	5 SubmittersRCV000595653 RCV000668685 RCV001248917
NM_000203.5(IDUA):c.158+1G>A	SNV Germline	Chr4:987243	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA355945713	rs_1264013707	2 SubmittersRCV000631454
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)	SNV Germline	Chr4:987095	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2801097	rs_180984980	6 SubmittersRCV000631451 RCV002528855 RCV003133418
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	SNV Germline	Chr4:1001510	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_776098539	4 SubmittersRCV000672356 RCV001378363
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	SNV Germline	Chr4:1002435	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_762903007	4 SubmittersRCV000665646 RCV002263927 RCV001861745
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		rs_1340421020	4 SubmittersRCV000667300 RCV000781475
NM_000203.5(IDUA):c.1728-1G>C	SNV Germline	Chr4:1004011	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-H/S Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1249951282	5 SubmittersRCV001249440 RCV001810477 RCV001592853
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)	SNV Germline	Chr4:1001522	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1238128027	2 SubmittersRCV000666385 RCV002530682
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)	SNV Germline	Chr4:1002325	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_764196171	4 SubmittersRCV000665229 RCV001387754 RCV003140058
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)	SNV Germline	Chr4:1002340	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_746766617	3 SubmittersRCV000674066 RCV000807531 RCV001784290
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)	SNV Germline	Chr4:1002411	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1553917304	2 SubmittersRCV000670452 RCV002532101
NM_000203.5(IDUA):c.1402+2T>G	SNV Germline	Chr4:1002946	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553917428	2 SubmittersRCV000668513 RCV000807158
NM_000203.5(IDUA):c.1829-2A>G	SNV Germline	Chr4:1004258	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553917733	2 SubmittersRCV000671680 RCV001378536
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		rs_745915863	4 SubmittersRCV000668161 RCV001051181 RCV003144471
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)	SNV Germline	Chr4:1004285	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_746936485	2 SubmittersRCV000670523 RCV003591769
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		rs_886043347	5 SubmittersRCV000672407 RCV001380047 RCV002499181 RCV004817901
NM_000203.5(IDUA):c.300-3C>G	SNV Germline	Chr4:1000609	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1226056948	3 SubmittersRCV000012701 RCV000666654 RCV001043397
NM_000203.5(IDUA):c.385+1G>C	SNV Germline	Chr4:1000698	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_780615798	4 SubmittersRCV000667145 RCV000675601 RCV001387753
NM_000203.5(IDUA):c.494-1G>A	SNV Germline	Chr4:1001467	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_794727701	2 SubmittersRCV000674145 RCV004800531
NM_000203.5(IDUA):c.589+1G>A	SNV Germline	Chr4:1001564	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1293215555	2 SubmittersRCV000674301 RCV001861838
NM_000203.5(IDUA):c.793-1G>A	SNV Germline	Chr4:1001981	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_762779421	4 SubmittersRCV000673620 RCV001065448 RCV001784285
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	SNV Germline	Chr4:1001695	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1033313360	5 SubmittersRCV000667572 RCV001389275
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)	SNV Germline	Chr4:1001712	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1430681871	4 SubmittersRCV000670254 RCV001784262 RCV001855539
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		rs_994902207	3 SubmittersRCV000672521 RCV002493112 RCV003754884
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		rs_546933529	6 SubmittersRCV000669801 RCV000916227 RCV001265722 RCV001375507 RCV003133497
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)	SNV Germline	Chr4:1002009	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553917192	2 SubmittersRCV000668628 RCV001855504
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)	SNV Germline	Chr4:1003606	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1553917627	2 SubmittersRCV000666323 RCV002530678
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)	SNV Germline	Chr4:1004027	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_776787370	5 SubmittersRCV000665761 RCV001214746 RCV001662734
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		rs_750496798	4 SubmittersRCV000673313 RCV001784281 RCV001868270
NM_000203.5(IDUA):c.1828+1G>C	SNV Germline	Chr4:1004113	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_919151683	2 SubmittersRCV000672546 RCV002532127
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		rs_756572099	6 SubmittersRCV000665162 RCV001210649 RCV003488787
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	SNV Germline	Chr4:1002444	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_754949360	4 SubmittersRCV000674420 RCV001233076 RCV001784294
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		rs_794727896	4 SubmittersRCV000674913 RCV001855616 RCV003129987
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		rs_991612107	3 SubmittersRCV000671009 RCV003591770
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		rs_772416503	5 SubmittersRCV000666799 RCV001756126 RCV002530697
NM_000203.5(IDUA):c.1728-2A>G	SNV Germline	Chr4:1004010	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1553917699	3 SubmittersRCV000673922 RCV001247821 RCV001784289
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	SNV Germline	Chr4:987085	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553914737	3 SubmittersRCV000665207 RCV001390269
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	SNV Germline	Chr4:987087	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553914740	2 SubmittersRCV000673251 RCV003323676
NM_000203.5(IDUA):c.159-1G>A	SNV Germline	Chr4:987808	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553914935	2 SubmittersRCV000672729 RCV003768000
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	Criteria Provided Conflicting Classifications		rs_780165694	4 SubmittersRCV000667992 RCV002222591 RCV002532065 RCV003133494
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)	SNV Germline	Chr4:1003397	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Conflicting Classifications		rs_781136336	5 SubmittersRCV000687687 RCV001566840 RCV002289960
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	SNV Germline	Chr4:987915	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts		rs_754966840	5 SubmittersRCV000703774 RCV001784344 RCV002485752
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)	SNV Germline	Chr4:1001982	Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel		rs_369090960	5 SubmittersRCV000790540 RCV001784404
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)	SNV Germline	Chr4:1002341	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_368454909	3 SubmittersRCV000790541
NM_000203.5(IDUA):c.1727+1G>A	SNV Germline	Chr4:1003626	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1577544451	2 SubmittersRCV000790543
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)	SNV Germline	Chr4:1003089	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1356329915	2 SubmittersRCV000806468
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)	SNV Germline	Chr4:987086	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_753767675	2 SubmittersRCV000792346
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)	SNV Germline	Chr4:987828	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1577508801	2 SubmittersRCV000811149
NM_000203.5(IDUA):c.1403-1G>T	SNV Germline	Chr4:1003035	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_4690223	3 SubmittersRCV000807838 RCV001784433
NM_000203.5(IDUA):c.1728-1G>A	SNV Germline	Chr4:1004011	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1249951282	1 SubmittersRCV000794867
NM_000203.5(IDUA):c.408C>T (p.Ala136=)	SNV Germline	Chr4:1000904	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_138195998	5 SubmittersRCV000887714 RCV003169234 RCV003438559
NM_000203.5(IDUA):c.30G>A (p.Leu10=)	SNV Germline	Chr4:987114	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_549738466	3 SubmittersRCV000892091
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)	SNV Germline	Chr4:987160	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_746809894	5 SubmittersRCV000884800 RCV001766789
NM_000203.5(IDUA):c.249C>T (p.Arg83=)	SNV Germline	Chr4:987899	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_765563471	3 SubmittersRCV000887690 RCV002427244
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)	SNV Germline	Chr4:1002389	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_527336882	6 SubmittersRCV000902904 RCV001193754 RCV003132120
NM_000203.5(IDUA):c.1491G>T (p.Thr497=)	SNV Germline	Chr4:1003124	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_374102243	3 SubmittersRCV000918405 RCV003169306 RCV003130088
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)	SNV Germline	Chr4:1004084	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_763047621	3 SubmittersRCV000930793
NM_000203.5(IDUA):c.590-8C>G	SNV Germline	Chr4:1001671	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_6848974	3 SubmittersRCV000977417 RCV003489983
NM_000203.5(IDUA):c.1403-6C>G	SNV Germline	Chr4:1003030	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_764919689	3 SubmittersRCV000998206 RCV002549997
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)	SNV Germline	Chr4:1001704	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-H/S Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1715086654	3 SubmittersRCV001058705 RCV001263615 RCV001784613
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)	SNV Germline	Chr4:1002125	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1715123409	2 SubmittersRCV001060568
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)	SNV Germline	Chr4:1002811	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts		rs_931627770	4 SubmittersRCV001062380 RCV001784619 RCV002482062
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)	SNV Germline	Chr4:1004034	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1715290919	1 SubmittersRCV001049477
NM_000203.5(IDUA):c.837C>T (p.Val279=)	SNV Germline	Chr4:1002026	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_758749484	2 SubmittersRCV001154741
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)	SNV Germline	Chr4:1004294	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_762586	2 SubmittersRCV001154843
NM_000203.5(IDUA):c.1402+8G>A	SNV Germline	Chr4:1002952	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1315308939	2 SubmittersRCV001153993
NM_000203.5(IDUA):c.1650+12T>C	SNV Germline	Chr4:1003482	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1715248390	2 SubmittersRCV001153995
NM_000203.5(IDUA):c.1651-7C>A	SNV Germline	Chr4:1003542	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_934115207	2 SubmittersRCV001153996
NM_000203.5(IDUA):c.1727+9G>T	SNV Germline	Chr4:1003634	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_771420258	2 SubmittersRCV001154842
NM_000203.5(IDUA):c.299+8G>A	SNV Germline	Chr4:987957	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_546988577	2 SubmittersRCV001157968
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)	SNV Germline	Chr4:1000953	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1715035049	2 SubmittersRCV001174838
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)	SNV Germline	Chr4:1004308	Pathogenic	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts		rs_1456090810	3 SubmittersRCV001193755 RCV002497675
NM_000203.5(IDUA):c.719A>G (p.His240Arg)	SNV Germline	Chr4:1001808	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts		rs_1297784711	3 SubmittersRCV001218009 RCV001810498
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)	SNV Germline	Chr4:1002342	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_371397270	4 SubmittersRCV001222699 RCV001586065
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)	SNV Germline	Chr4:987225	Pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1713799895	2 SubmittersRCV001207363 RCV001780117
NM_000203.5(IDUA):c.1524+1G>A	SNV Germline	Chr4:1003158	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1553917483	1 SubmittersRCV001210161
NM_000203.5(IDUA):c.590-2A>G	SNV Germline	Chr4:1001677	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1252941339	1 SubmittersRCV001218712
NM_000203.5(IDUA):c.1190-10C>A	SNV Germline	Chr4:1002722	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1443642527	2 SubmittersRCV001222698
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)	SNV Germline	Chr4:1004391	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_387906504	2 SubmittersRCV001233538
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)	SNV Germline	Chr4:1003093	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 not specified	Criteria Provided Conflicting Classifications		rs_1715210316	3 SubmittersRCV001245515 RCV001806085
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)	SNV Germline	Chr4:1004049	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_144941693	3 SubmittersRCV001239460 RCV002567934
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)	SNV Germline	Chr4:1000935	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1 IDUA-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1389029860	3 SubmittersRCV001264188 RCV002537667 RCV004751945
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		rs_776305028	3 SubmittersRCV001264189 RCV001335171 RCV001880075
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		rs_1715120049	4 SubmittersRCV001269274 RCV002275339
NM_000203.5(IDUA):c.618G>A (p.Ser206=)	SNV Germline	Chr4:1001707	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_377312287	4 SubmittersRCV001302700 RCV002357102 RCV003130248
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)	SNV Germline	Chr4:1001513	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1044231895	1 SubmittersRCV001321820
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)	SNV Germline	Chr4:1003579	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_752800292	1 SubmittersRCV001387945
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	SNV Germline	Chr4:1004314	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_200448421	4 SubmittersRCV001374701 RCV001780270 RCV001865868 RCV003229620
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)	SNV Germline	Chr4:1002335	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2153022349	2 SubmittersRCV001378364 RCV003132487
NM_000203.5(IDUA):c.1651-2A>G	SNV Germline	Chr4:1003547	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153022990	1 SubmittersRCV001377750
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)	SNV Germline	Chr4:1004289	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2153023278	2 SubmittersRCV001378365
NM_000203.5(IDUA):c.159-2A>C	SNV Germline	Chr4:987807	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153015588	1 SubmittersRCV001378559
NM_000203.5(IDUA):c.159-2A>G	SNV Germline	Chr4:987807	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153015588	1 SubmittersRCV001379234
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)	SNV Germline	Chr4:1001695	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts		rs_1033313360	3 SubmittersRCV001385939 RCV001823205
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)	SNV Germline	Chr4:1002404	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153022415	1 SubmittersRCV001388618
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)	SNV Germline	Chr4:1004083	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_867456178	1 SubmittersRCV001380386
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)	SNV Germline	Chr4:1004329	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_886043347	3 SubmittersRCV001380046
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		rs_2153015621	2 SubmittersRCV001390270 RCV003238366
NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)	SNV Germline	Chr4:1002767	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_11934801	2 SubmittersRCV001402162 RCV004793480
NM_000203.5(IDUA):c.900G>A (p.Ala300=)	SNV Germline	Chr4:1002089	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1715120552	2 SubmittersRCV001432640 RCV003132497
NM_000203.5(IDUA):c.240C>G (p.Val80=)	SNV Germline	Chr4:987890	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_373277285	2 SubmittersRCV001489237 RCV003132503
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)	SNV Germline	Chr4:1003132	Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 1 not specified	Reviewed By Expert Panel		rs_1715216061	4 SubmittersRCV001765415 RCV001882889 RCV004699458
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter)	SNV Germline	Chr4:1001514	Pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2153021904	2 SubmittersRCV001779451 RCV003136149
NM_000203.5(IDUA):c.299+1G>C	SNV Germline	Chr4:987950	Pathogenic	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_398123259	2 SubmittersRCV001783457 RCV003754918
NM_000203.5(IDUA):c.1A>G (p.Met1Val)	SNV Germline	Chr4:987085	Pathogenic	Condition: not provided Mucopolysaccharidosis type 1	Reviewed By Expert Panel		rs_1553914737	3 SubmittersRCV001783462 RCV001868850
NM_000203.5(IDUA):c.1402+1G>T	SNV Germline	Chr4:1002945	Likely pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1	Reviewed By Expert Panel		rs_398123254	5 SubmittersRCV001783463 RCV001810512 RCV001825037
NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter)	SNV Germline	Chr4:1003443	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2153022938	2 SubmittersRCV001782287 RCV001868861
NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter)	SNV Germline	Chr4:1003468	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153022958	1 SubmittersRCV001868862
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		rs_2153023287	4 SubmittersRCV001824223 RCV001869832 RCV004542135
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly)	SNV Germline	Chr4:1001697	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153021978	1 SubmittersRCV002028654
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg)	SNV Germline	Chr4:1002094	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_767140903	1 SubmittersRCV002046291
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)	SNV Germline	Chr4:1002336	Conflicting classifications of pathogenicity	not specified Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_780106243	3 SubmittersRCV003230722 RCV001973995 RCV003134312
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr)	SNV Germline	Chr4:1001703	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1715086540	1 SubmittersRCV001961290
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr)	SNV Germline	Chr4:1001696	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153021976	1 SubmittersRCV002050273
NM_000203.5(IDUA):c.727G>A (p.Asp243Asn)	SNV Germline	Chr4:1001816	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1460797649	2 SubmittersRCV001950296 RCV004988967
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro)	SNV Germline	Chr4:1001802	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_148789453	1 SubmittersRCV002021314
NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr)	SNV Germline	Chr4:1003417	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_374779600	1 SubmittersRCV001993984
NM_000203.5(IDUA):c.590-1G>A	SNV Germline	Chr4:1001678	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1715084294	1 SubmittersRCV002035284
NM_000203.5(IDUA):c.536C>T (p.Thr179Met)	SNV Germline	Chr4:1001510	Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel		rs_776098539	4 SubmittersRCV001942261 RCV003130637
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly)	SNV Germline	Chr4:1003146	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1715218377	1 SubmittersRCV001995767
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter)	SNV Germline	Chr4:987131	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_567921262	1 SubmittersRCV001945815
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)	SNV Germline	Chr4:1001509	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_766030255	3 SubmittersRCV001994158 RCV003134317 RCV003235645
NM_000203.5(IDUA):c.903C>G (p.Asp301Glu)	SNV Germline	Chr4:1002092	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_759390416	2 SubmittersRCV001975007
NM_000203.5(IDUA):c.1498C>T (p.Gln500Ter)	SNV Germline	Chr4:1003131	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1290558249	1 SubmittersRCV001953583
NM_000203.5(IDUA):c.159C>A (p.Cys53Ter)	SNV Germline	Chr4:987809	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_758190824	1 SubmittersRCV001975064
NM_000203.5(IDUA):c.386-1G>A	SNV Germline	Chr4:1000881	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153021698	1 SubmittersRCV001956542
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn)	SNV Germline	Chr4:1001696	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153021976	1 SubmittersRCV001956544
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro)	SNV Germline	Chr4:1003099	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1416328981	1 SubmittersRCV002041304
NM_000203.5(IDUA):c.224C>T (p.Ala75Val)	SNV Germline	Chr4:987874	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1315260083	1 SubmittersRCV001956964
NM_000203.5(IDUA):c.1525-2A>C	SNV Germline	Chr4:1003343	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_2153022881	1 SubmittersRCV002043892
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		rs_2153021926	2 SubmittersRCV002052114 RCV004801138
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu)	SNV Germline	Chr4:1004065	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_143621769	2 SubmittersRCV002125314 RCV003130690
NM_000203.5(IDUA):c.1198C>T (p.Gln400Ter)	SNV Germline	Chr4:1002740	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter		rs_1354690186	1 SubmittersRCV002238558
NM_000203.5(IDUA):c.956C>T (p.Ala319Val)	SNV Germline	Chr4:1002145	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_781534097	3 SubmittersRCV002240078 RCV003134402
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		rs_781534097	2 SubmittersRCV002249078 RCV003101337
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)	SNV Germline	Chr4:1002824	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002302453
NM_000203.5(IDUA):c.1271C>T (p.Ala424Val)	SNV Germline	Chr4:1002813	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003052741 RCV003294415
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)	SNV Germline	Chr4:1000625	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003077856 RCV004071827
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)	SNV Germline	Chr4:1002144	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV003070477 RCV003134643
NM_000203.5(IDUA):c.1829-1G>C	SNV Germline	Chr4:1004259	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003090738
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)	SNV Germline	Chr4:1001712	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002607336
NM_000203.5(IDUA):c.1936G>C (p.Gly646Arg)	SNV Germline	Chr4:1004367	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002592185 RCV004985219
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)	SNV Germline	Chr4:1001702	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002603398
NM_000203.5(IDUA):c.793-2A>G	SNV Germline	Chr4:1001980	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002629074
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)	SNV Germline	Chr4:1002872	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications			3 SubmittersRCV002634112 RCV003130859 RCV002634113
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)	SNV Germline	Chr4:1001518	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Reviewed By Expert Panel			3 SubmittersRCV002629390 RCV004820929
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)	SNV Germline	Chr4:1003417	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002629834 RCV003130862
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)	SNV Germline	Chr4:1001506	Pathogenic/Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV003140147 RCV002651787
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)	SNV Germline	Chr4:1001807	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003105080
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)	SNV Germline	Chr4:1003381	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV003112112 RCV004779485 RCV004985280
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)	SNV Germline	Chr4:1002383	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002587627
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)	SNV Germline	Chr4:1003418	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV002722150 RCV004700820
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)	SNV Germline	Chr4:1003607	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002761384
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)	SNV Germline	Chr4:1002387	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002848228
NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)	SNV Germline	Chr4:1001560	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002907914
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)	SNV Germline	Chr4:987948	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided IDUA-related disorder	Criteria Provided Conflicting Classifications			3 SubmittersRCV002952549 RCV003130782 RCV003403968
NM_000203.5(IDUA):c.1403-1G>A	SNV Germline	Chr4:1003035	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV002938332
NM_000203.5(IDUA):c.1525-1G>A	SNV Germline	Chr4:1003344	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003015089
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)	SNV Germline	Chr4:1003607	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003135732 RCV003778708
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)	SNV Germline	Chr4:1002443	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003131245 RCV003778710
NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)	SNV Germline	Chr4:1002143	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003592393
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)	SNV Germline	Chr4:1002865	Likely pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel			2 SubmittersRCV003592577
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)	SNV Germline	Chr4:987207	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003593295
NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)	SNV Germline	Chr4:987853	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003593296
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)	SNV Germline	Chr4:1001510	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003593298
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)	SNV Germline	Chr4:1001744	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003591421
NM_000203.5(IDUA):c.493+1G>T	SNV Germline	Chr4:1000990	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003592163
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)	SNV Germline	Chr4:1002395	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003755087
NM_000203.5(IDUA):c.901G>C (p.Asp301His)	SNV Germline	Chr4:1002090	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003755220
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)	SNV Germline	Chr4:1001514	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003755528
NM_000203.5(IDUA):c.1737G>A (p.Trp579Ter)	SNV Germline	Chr4:1004021	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003755699
NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)	SNV Germline	Chr4:1002865	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003755736
NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)	SNV Germline	Chr4:1001863	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003755825
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)	SNV Germline	Chr4:987915	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003755737
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)	SNV Germline	Chr4:1004305	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003756469
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)	SNV Germline	Chr4:1002387	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003820064
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)	SNV Germline	Chr4:1000679	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV003879814
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)	SNV Germline	Chr4:1002015	Pathogenic	Mucopolysaccharidosis type 1 IDUA-related core myopathy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004690507 RCV004587627

NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)

SNV
Germline

Chr4:1002747

Pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-I-H/S
See cases
Inborn genetic diseases
IDUA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220498

rs_121965019

28 SubmittersRCV000012683 RCV000078374 RCV000384297 RCV000477890 RCV001004934 RCV002251896 RCV002512986 RCV003398488

NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)

SNV
Germline

Chr4:1003418

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Inborn genetic diseases
Mucopolysaccharidosis, MPS-I-S

Criteria Provided
Multiple Submitters
No Conflicts

CA256112

rs_121965021

16 SubmittersRCV000012685 RCV000208595 RCV000486848 RCV000763533 RCV001267070 RCV004595880

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 SubmittersRCV000078375 RCV000327434 RCV000418377 RCV000722002

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 SubmittersRCV000012689 RCV003137513 RCV001851807

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-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Multiple Submitters
No Conflicts

CA256118

rs_121965025

9 SubmittersRCV000012692 RCV000780350 RCV001781251 RCV002496329

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-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Multiple Submitters
No Conflicts

CA256120

rs_121965026

5 SubmittersRCV000012693 RCV001781252 RCV001851808 RCV004795397

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 SubmittersRCV000012694 RCV000173657 RCV000790664 RCV001204340

NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)

SNV
Germline

Chr4:1004391

Likely pathogenic

Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA256121

rs_387906504

4 SubmittersRCV000012695 RCV000208602

NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)

SNV
Germline

Chr4:987916

Pathogenic

Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256124

rs_121965029

6 SubmittersRCV000012697 RCV000169784 RCV000208598

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 SubmittersRCV000012698 RCV000667026 RCV001206227 RCV003129751

NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)

SNV
Germline

Chr4:1004286

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA256125

rs_121965031

4 SubmittersRCV000012699 RCV000666715 RCV003591628

NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)

SNV
Germline

Chr4:1002387

Pathogenic

Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1
Hurler syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256126

rs_121965032

6 SubmittersRCV000012700 RCV000588505 RCV000984188 RCV003488337

NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)

SNV
Germline

Chr4:1002333

Pathogenic

Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256128

rs_121965033

5 SubmittersRCV000012702 RCV000012703 RCV001248726

NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)

SNV
Germline

Chr4:1002341

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA220497

rs_368454909

4 SubmittersRCV000180110 RCV001248916

NM_000203.5(IDUA):c.1650+5G>A

SNV
Germline

Chr4:1003475

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA220504

rs_398123256

4 SubmittersRCV000173987 RCV000790663 RCV001387944

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 SubmittersRCV000078387 RCV000208604 RCV000245681 RCV000664463 RCV002453397

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 SubmittersRCV000175551 RCV000790824 RCV001249024

NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)

SNV
Germline

Chr4:1001475

Pathogenic

Condition: not provided
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA220511

rs_200726100

2 SubmittersRCV000178733 RCV004948175

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

3 SubmittersRCV000087088 RCV002515779 RCV003129777

NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)

SNV
Germline

Chr4:1002275

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA234128

rs_199801029

15 SubmittersRCV000180108 RCV000208605 RCV000790804

NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)

SNV
Germline

Chr4:987236

Pathogenic

Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Condition: not provided
Hurler syndrome

Reviewed By Expert Panel

CA274902

rs_794726877

10 SubmittersRCV000208594 RCV002505243 RCV000723421 RCV000173082

NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)

SNV
Germline

Chr4:987137

Conflicting classifications of pathogenicity

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA238566

rs_794726878

7 SubmittersRCV000592086 RCV000724295 RCV001248919

NM_000203.5(IDUA):c.245A>C (p.His82Pro)

SNV
Germline

Chr4:987895

Conflicting classifications of pathogenicity

Hurler syndrome
not specified
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA201510

rs_794727239

8 SubmittersRCV000664739 RCV000175552 RCV003129795 RCV000779453

NM_000203.5(IDUA):c.972+1G>A

SNV
Germline

Chr4:1002162

Pathogenic

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275387

rs_794727840

2 SubmittersRCV000179734 RCV003591695

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

Criteria Provided
Conflicting Classifications

CA247499

rs_794727896

6 SubmittersRCV000597524 RCV000723454 RCV001249042

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

Reviewed By Expert Panel

CA356991

rs_777295041

11 SubmittersRCV000208607 RCV000666721 RCV001550709 RCV002288837

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356990

rs_762411583

7 SubmittersRCV000012688 RCV000208601 RCV000669065 RCV003137798

NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)

SNV
Germline

Chr4:1001742

Pathogenic

Mucopolysaccharidosis type 1
Condition: not provided
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Multiple Submitters
No Conflicts

CA356986

rs_869025584

6 SubmittersRCV000208593 RCV000592964 RCV000672514 RCV002500671

NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)

SNV
Germline

Chr4:1002325

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Criteria Provided
Single Submitter

CA356984

rs_764196171

2 SubmittersRCV000208592 RCV001169956

NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)

SNV
Germline

Chr4:987873

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356994

rs_758452450

6 SubmittersRCV000208613 RCV000670756 RCV001781626

NM_000203.5(IDUA):c.236C>T (p.Ala79Val)

SNV
Germline

Chr4:987886

Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

rs_747981483

4 SubmittersRCV001956540 RCV003130640

NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)

SNV
Germline

Chr4:1001497

Conflicting classifications of pathogenicity

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA10576337

rs_875989946

3 SubmittersRCV000211578 RCV003129812 RCV003591715

NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)

SNV
Germline

Chr4:1001802

Pathogenic/Likely pathogenic

Condition: not provided
Hurler syndrome
Mucopolysaccharidosis type 1
IDUA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2802065

rs_148789453

7 SubmittersRCV000256027 RCV000668680 RCV000802940 RCV004751408

NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)

SNV
Germline

Chr4:1004286

Pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2802455

rs_121965031

8 SubmittersRCV000337972 RCV000723407 RCV000780351

NM_000203.5(IDUA):c.234C>T (p.Gly78=)

SNV
Germline

Chr4:987884

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2801142

rs_138932617

6 SubmittersRCV000289453 RCV000631460 RCV002446510

NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)

SNV
Germline

Chr4:1004329

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10605410

rs_886043347

6 SubmittersRCV000323838 RCV001248897 RCV001267071

NM_000203.5(IDUA):c.793-9C>T

SNV
Germline

Chr4:1001973

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA2802094

rs_375798875

4 SubmittersRCV000297551

NM_000203.5(IDUA):c.1345C>A (p.His449Asn)

SNV
Germline

Chr4:1002887

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided
IDUA-related disorder
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2802233

rs_532731688

10 SubmittersRCV000340208 RCV000596643 RCV003912489 RCV000999899 RCV004021975

NM_000203.5(IDUA):c.663C>G (p.Pro221=)

SNV
Germline

Chr4:1001752

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2802048

rs_368553582

4 SubmittersRCV000360253 RCV002365416

NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)

SNV
Germline

Chr4:1002327

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2802168

rs_202191662

4 SubmittersRCV000277691 RCV002379241

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 SubmittersRCV000301469 RCV000664803 RCV003950238

NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)

SNV
Germline

Chr4:1000677

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2801884

rs_200237798

6 SubmittersRCV000391892 RCV001573291

NM_000203.5(IDUA):c.1002G>A (p.Leu334=)

SNV
Germline

Chr4:1002298

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
IDUA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2802160

rs_370582480

5 SubmittersRCV000367501 RCV003922541 RCV002392913

NM_000203.5(IDUA):c.1479C>A (p.Pro493=)

SNV
Germline

Chr4:1003112

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2802271

rs_370394527

5 SubmittersRCV000390925 RCV002392914 RCV000675613

NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)

SNV
Germline

Chr4:1002414

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis type 1
Inborn genetic diseases
Condition: not provided
IDUA-related disorder

Criteria Provided
Conflicting Classifications

CA2802193

rs_140564189

5 SubmittersRCV000412931 RCV000970962 RCV002436237 RCV003133251 RCV003972556

NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)

SNV
Germline

Chr4:1003418

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA355965029

rs_121965021

4 SubmittersRCV000493029 RCV001249043

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 SubmittersRCV000553823 RCV001329096 RCV001509227 RCV003942737

NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)

SNV
Germline

Chr4:1002459

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA91169370

rs_794727896

7 SubmittersRCV000592196 RCV000723433 RCV001215791

NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)

SNV
Germline

Chr4:1003120

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2802275

rs_772416503

8 SubmittersRCV000592777 RCV000723457 RCV000780349

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

Criteria Provided
Conflicting Classifications

CA2802119

rs_752337969

5 SubmittersRCV000595653 RCV000668685 RCV001248917

NM_000203.5(IDUA):c.158+1G>A

SNV
Germline

Chr4:987243

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA355945713

rs_1264013707

2 SubmittersRCV000631454

NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)

SNV
Germline

Chr4:987095

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2801097

rs_180984980

6 SubmittersRCV000631451 RCV002528855 RCV003133418

NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)

SNV
Germline

Chr4:1001510

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_776098539

4 SubmittersRCV000672356 RCV001378363

NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)

SNV
Germline

Chr4:1002435

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_762903007

4 SubmittersRCV000665646 RCV002263927 RCV001861745

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

rs_1340421020

4 SubmittersRCV000667300 RCV000781475

NM_000203.5(IDUA):c.1728-1G>C

SNV
Germline

Chr4:1004011

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-H/S
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1249951282

5 SubmittersRCV001249440 RCV001810477 RCV001592853

NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)

SNV
Germline

Chr4:1001522

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1238128027

2 SubmittersRCV000666385 RCV002530682

NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)

SNV
Germline

Chr4:1002325

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_764196171

4 SubmittersRCV000665229 RCV001387754 RCV003140058

NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)

SNV
Germline

Chr4:1002340

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_746766617

3 SubmittersRCV000674066 RCV000807531 RCV001784290

NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)

SNV
Germline

Chr4:1002411

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1553917304

2 SubmittersRCV000670452 RCV002532101

NM_000203.5(IDUA):c.1402+2T>G

SNV
Germline

Chr4:1002946

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553917428

2 SubmittersRCV000668513 RCV000807158

NM_000203.5(IDUA):c.1829-2A>G

SNV
Germline

Chr4:1004258

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553917733

2 SubmittersRCV000671680 RCV001378536

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

rs_745915863

4 SubmittersRCV000668161 RCV001051181 RCV003144471

NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)

SNV
Germline

Chr4:1004285

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_746936485

2 SubmittersRCV000670523 RCV003591769

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

rs_886043347

5 SubmittersRCV000672407 RCV001380047 RCV002499181 RCV004817901

NM_000203.5(IDUA):c.300-3C>G

SNV
Germline

Chr4:1000609

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1226056948

3 SubmittersRCV000012701 RCV000666654 RCV001043397

NM_000203.5(IDUA):c.385+1G>C

SNV
Germline

Chr4:1000698

Pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_780615798

4 SubmittersRCV000667145 RCV000675601 RCV001387753

NM_000203.5(IDUA):c.494-1G>A

SNV
Germline

Chr4:1001467

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_794727701

2 SubmittersRCV000674145 RCV004800531

NM_000203.5(IDUA):c.589+1G>A

SNV
Germline

Chr4:1001564

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1293215555

2 SubmittersRCV000674301 RCV001861838

NM_000203.5(IDUA):c.793-1G>A

SNV
Germline

Chr4:1001981

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_762779421

4 SubmittersRCV000673620 RCV001065448 RCV001784285

NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)

SNV
Germline

Chr4:1001695

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1033313360

5 SubmittersRCV000667572 RCV001389275

NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)

SNV
Germline

Chr4:1001712

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1430681871

4 SubmittersRCV000670254 RCV001784262 RCV001855539

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

rs_994902207

3 SubmittersRCV000672521 RCV002493112 RCV003754884

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

rs_546933529

6 SubmittersRCV000669801 RCV000916227 RCV001265722 RCV001375507 RCV003133497

NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)

SNV
Germline

Chr4:1002009

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553917192

2 SubmittersRCV000668628 RCV001855504

NM_000203.5(IDUA):c.1708G>C (p.Asp570His)

SNV
Germline

Chr4:1003606

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1553917627

2 SubmittersRCV000666323 RCV002530678

NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)

SNV
Germline

Chr4:1004027

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_776787370

5 SubmittersRCV000665761 RCV001214746 RCV001662734

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

rs_750496798

4 SubmittersRCV000673313 RCV001784281 RCV001868270

NM_000203.5(IDUA):c.1828+1G>C

SNV
Germline

Chr4:1004113

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_919151683

2 SubmittersRCV000672546 RCV002532127

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

rs_756572099

6 SubmittersRCV000665162 RCV001210649 RCV003488787

NM_000203.5(IDUA):c.1148G>A (p.Arg383His)

SNV
Germline

Chr4:1002444

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_754949360

4 SubmittersRCV000674420 RCV001233076 RCV001784294

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

rs_794727896

4 SubmittersRCV000674913 RCV001855616 RCV003129987

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

rs_991612107

3 SubmittersRCV000671009 RCV003591770

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

rs_772416503

5 SubmittersRCV000666799 RCV001756126 RCV002530697

NM_000203.5(IDUA):c.1728-2A>G

SNV
Germline

Chr4:1004010

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553917699

3 SubmittersRCV000673922 RCV001247821 RCV001784289

NM_000203.5(IDUA):c.1A>C (p.Met1Leu)

SNV
Germline

Chr4:987085

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553914737

3 SubmittersRCV000665207 RCV001390269

NM_000203.5(IDUA):c.3G>A (p.Met1Ile)

SNV
Germline

Chr4:987087

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553914740

2 SubmittersRCV000673251 RCV003323676

NM_000203.5(IDUA):c.159-1G>A

SNV
Germline

Chr4:987808

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553914935

2 SubmittersRCV000672729 RCV003768000

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

Criteria Provided
Conflicting Classifications

rs_780165694

4 SubmittersRCV000667992 RCV002222591 RCV002532065 RCV003133494

NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)

SNV
Germline

Chr4:1003397

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Conflicting Classifications

rs_781136336

5 SubmittersRCV000687687 RCV001566840 RCV002289960

NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)

SNV
Germline

Chr4:987915

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S

Criteria Provided
Multiple Submitters
No Conflicts

rs_754966840

5 SubmittersRCV000703774 RCV001784344 RCV002485752

NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)

SNV
Germline

Chr4:1001982

Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

rs_369090960

5 SubmittersRCV000790540 RCV001784404

NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)

SNV
Germline

Chr4:1002341

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_368454909

3 SubmittersRCV000790541

NM_000203.5(IDUA):c.1727+1G>A

SNV
Germline

Chr4:1003626

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1577544451

2 SubmittersRCV000790543

NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)

SNV
Germline

Chr4:1003089

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1356329915

2 SubmittersRCV000806468

NM_000203.5(IDUA):c.2T>C (p.Met1Thr)

SNV
Germline

Chr4:987086

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_753767675

2 SubmittersRCV000792346

NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr4:987828

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1577508801

2 SubmittersRCV000811149

NM_000203.5(IDUA):c.1403-1G>T

SNV
Germline

Chr4:1003035

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_4690223

3 SubmittersRCV000807838 RCV001784433

NM_000203.5(IDUA):c.1728-1G>A

SNV
Germline

Chr4:1004011

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1249951282

1 SubmittersRCV000794867

NM_000203.5(IDUA):c.408C>T (p.Ala136=)

SNV
Germline

Chr4:1000904

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138195998

5 SubmittersRCV000887714 RCV003169234 RCV003438559

NM_000203.5(IDUA):c.30G>A (p.Leu10=)

SNV
Germline

Chr4:987114

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_549738466

3 SubmittersRCV000892091

NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)

SNV
Germline

Chr4:987160

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_746809894

5 SubmittersRCV000884800 RCV001766789

NM_000203.5(IDUA):c.249C>T (p.Arg83=)

SNV
Germline

Chr4:987899

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765563471

3 SubmittersRCV000887690 RCV002427244

NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)

SNV
Germline

Chr4:1002389

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_527336882

6 SubmittersRCV000902904 RCV001193754 RCV003132120

NM_000203.5(IDUA):c.1491G>T (p.Thr497=)

SNV
Germline

Chr4:1003124

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374102243

3 SubmittersRCV000918405 RCV003169306 RCV003130088

NM_000203.5(IDUA):c.1800G>A (p.Ser600=)

SNV
Germline

Chr4:1004084

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_763047621

3 SubmittersRCV000930793

NM_000203.5(IDUA):c.590-8C>G

SNV
Germline

Chr4:1001671

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_6848974

3 SubmittersRCV000977417 RCV003489983

NM_000203.5(IDUA):c.1403-6C>G

SNV
Germline

Chr4:1003030

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_764919689

3 SubmittersRCV000998206 RCV002549997

NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)

SNV
Germline

Chr4:1001704

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-H/S
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1715086654

3 SubmittersRCV001058705 RCV001263615 RCV001784613

NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)

SNV
Germline

Chr4:1002125

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1715123409

2 SubmittersRCV001060568

NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)

SNV
Germline

Chr4:1002811

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S

Criteria Provided
Multiple Submitters
No Conflicts

rs_931627770

4 SubmittersRCV001062380 RCV001784619 RCV002482062

NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)

SNV
Germline

Chr4:1004034

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1715290919

1 SubmittersRCV001049477

NM_000203.5(IDUA):c.837C>T (p.Val279=)

SNV
Germline

Chr4:1002026

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_758749484

2 SubmittersRCV001154741

NM_000203.5(IDUA):c.1863A>C (p.Arg621=)

SNV
Germline

Chr4:1004294

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_762586

2 SubmittersRCV001154843

NM_000203.5(IDUA):c.1402+8G>A

SNV
Germline

Chr4:1002952

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1315308939

2 SubmittersRCV001153993

NM_000203.5(IDUA):c.1650+12T>C

SNV
Germline

Chr4:1003482

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1715248390

2 SubmittersRCV001153995

NM_000203.5(IDUA):c.1651-7C>A

SNV
Germline

Chr4:1003542

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_934115207

2 SubmittersRCV001153996

NM_000203.5(IDUA):c.1727+9G>T

SNV
Germline

Chr4:1003634

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_771420258

2 SubmittersRCV001154842

NM_000203.5(IDUA):c.299+8G>A

SNV
Germline

Chr4:987957

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_546988577

2 SubmittersRCV001157968

NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)

SNV
Germline

Chr4:1000953

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1715035049

2 SubmittersRCV001174838

NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)

SNV
Germline

Chr4:1004308

Pathogenic

Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Multiple Submitters
No Conflicts

rs_1456090810

3 SubmittersRCV001193755 RCV002497675

NM_000203.5(IDUA):c.719A>G (p.His240Arg)

SNV
Germline

Chr4:1001808

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Multiple Submitters
No Conflicts

rs_1297784711

3 SubmittersRCV001218009 RCV001810498

NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)

SNV
Germline

Chr4:1002342

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_371397270

4 SubmittersRCV001222699 RCV001586065

NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)

SNV
Germline

Chr4:987225

Pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1713799895

2 SubmittersRCV001207363 RCV001780117

NM_000203.5(IDUA):c.1524+1G>A

SNV
Germline

Chr4:1003158

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1553917483

1 SubmittersRCV001210161

NM_000203.5(IDUA):c.590-2A>G

SNV
Germline

Chr4:1001677

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1252941339

1 SubmittersRCV001218712

NM_000203.5(IDUA):c.1190-10C>A

SNV
Germline

Chr4:1002722

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1443642527

2 SubmittersRCV001222698

NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)

SNV
Germline

Chr4:1004391

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_387906504

2 SubmittersRCV001233538

NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)

SNV
Germline

Chr4:1003093

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
not specified

Criteria Provided
Conflicting Classifications

rs_1715210316

3 SubmittersRCV001245515 RCV001806085

NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)

SNV
Germline

Chr4:1004049

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_144941693

3 SubmittersRCV001239460 RCV002567934

NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr4:1000935

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1
IDUA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1389029860

3 SubmittersRCV001264188 RCV002537667 RCV004751945

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

rs_776305028

3 SubmittersRCV001264189 RCV001335171 RCV001880075

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

rs_1715120049

4 SubmittersRCV001269274 RCV002275339

NM_000203.5(IDUA):c.618G>A (p.Ser206=)

SNV
Germline

Chr4:1001707

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377312287

4 SubmittersRCV001302700 RCV002357102 RCV003130248

NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)

SNV
Germline

Chr4:1001513

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1044231895

1 SubmittersRCV001321820

NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)

SNV
Germline

Chr4:1003579

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_752800292

1 SubmittersRCV001387945

NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)

SNV
Germline

Chr4:1004314

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-IV-A

Criteria Provided
Multiple Submitters
No Conflicts

rs_200448421

4 SubmittersRCV001374701 RCV001780270 RCV001865868 RCV003229620

NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)

SNV
Germline

Chr4:1002335

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2153022349

2 SubmittersRCV001378364 RCV003132487

NM_000203.5(IDUA):c.1651-2A>G

SNV
Germline

Chr4:1003547

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153022990

1 SubmittersRCV001377750

NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)

SNV
Germline

Chr4:1004289

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2153023278

2 SubmittersRCV001378365

NM_000203.5(IDUA):c.159-2A>C

SNV
Germline

Chr4:987807

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153015588

1 SubmittersRCV001378559

NM_000203.5(IDUA):c.159-2A>G

SNV
Germline

Chr4:987807

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153015588

1 SubmittersRCV001379234

NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)

SNV
Germline

Chr4:1001695

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Multiple Submitters
No Conflicts

rs_1033313360

3 SubmittersRCV001385939 RCV001823205

NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)

SNV
Germline

Chr4:1002404

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153022415

1 SubmittersRCV001388618

NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)

SNV
Germline

Chr4:1004083

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_867456178

1 SubmittersRCV001380386

NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)

SNV
Germline

Chr4:1004329

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_886043347

3 SubmittersRCV001380046

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

rs_2153015621

2 SubmittersRCV001390270 RCV003238366

NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)

SNV
Germline

Chr4:1002767

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_11934801

2 SubmittersRCV001402162 RCV004793480

NM_000203.5(IDUA):c.900G>A (p.Ala300=)

SNV
Germline

Chr4:1002089

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1715120552

2 SubmittersRCV001432640 RCV003132497

NM_000203.5(IDUA):c.240C>G (p.Val80=)

SNV
Germline

Chr4:987890

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373277285

2 SubmittersRCV001489237 RCV003132503

NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)

SNV
Germline

Chr4:1003132

Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 1
not specified

Reviewed By Expert Panel

rs_1715216061

4 SubmittersRCV001765415 RCV001882889 RCV004699458

NM_000203.5(IDUA):c.540G>A (p.Trp180Ter)

SNV
Germline

Chr4:1001514

Pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2153021904

2 SubmittersRCV001779451 RCV003136149

NM_000203.5(IDUA):c.299+1G>C

SNV
Germline

Chr4:987950

Pathogenic

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123259

2 SubmittersRCV001783457 RCV003754918

NM_000203.5(IDUA):c.1A>G (p.Met1Val)

SNV
Germline

Chr4:987085

Pathogenic

Condition: not provided
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

rs_1553914737

3 SubmittersRCV001783462 RCV001868850

NM_000203.5(IDUA):c.1402+1G>T

SNV
Germline

Chr4:1002945

Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

rs_398123254

5 SubmittersRCV001783463 RCV001810512 RCV001825037

NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter)

SNV
Germline

Chr4:1003443

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2153022938

2 SubmittersRCV001782287 RCV001868861

NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter)

SNV
Germline

Chr4:1003468

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153022958

1 SubmittersRCV001868862

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

rs_2153023287

4 SubmittersRCV001824223 RCV001869832 RCV004542135

NM_000203.5(IDUA):c.608A>G (p.Asp203Gly)

SNV
Germline

Chr4:1001697

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153021978

1 SubmittersRCV002028654

NM_000203.5(IDUA):c.905C>G (p.Pro302Arg)

SNV
Germline

Chr4:1002094

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_767140903

1 SubmittersRCV002046291

NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)

SNV
Germline

Chr4:1002336

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780106243

3 SubmittersRCV003230722 RCV001973995 RCV003134312

NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr)

SNV
Germline

Chr4:1001703

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1715086540

1 SubmittersRCV001961290

NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr)

SNV
Germline

Chr4:1001696

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153021976

1 SubmittersRCV002050273

NM_000203.5(IDUA):c.727G>A (p.Asp243Asn)

SNV
Germline

Chr4:1001816

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1460797649

2 SubmittersRCV001950296 RCV004988967

NM_000203.5(IDUA):c.713T>C (p.Leu238Pro)

SNV
Germline

Chr4:1001802

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_148789453

1 SubmittersRCV002021314

NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr)

SNV
Germline

Chr4:1003417

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_374779600

1 SubmittersRCV001993984

NM_000203.5(IDUA):c.590-1G>A

SNV
Germline

Chr4:1001678

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1715084294

1 SubmittersRCV002035284

NM_000203.5(IDUA):c.536C>T (p.Thr179Met)

SNV
Germline

Chr4:1001510

Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

rs_776098539

4 SubmittersRCV001942261 RCV003130637

NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly)

SNV
Germline

Chr4:1003146

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1715218377

1 SubmittersRCV001995767

NM_000203.5(IDUA):c.47C>A (p.Ser16Ter)

SNV
Germline

Chr4:987131

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_567921262

1 SubmittersRCV001945815

NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)

SNV
Germline

Chr4:1001509

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_766030255

3 SubmittersRCV001994158 RCV003134317 RCV003235645

NM_000203.5(IDUA):c.903C>G (p.Asp301Glu)

SNV
Germline

Chr4:1002092

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_759390416

2 SubmittersRCV001975007

NM_000203.5(IDUA):c.1498C>T (p.Gln500Ter)

SNV
Germline

Chr4:1003131

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1290558249

1 SubmittersRCV001953583

NM_000203.5(IDUA):c.159C>A (p.Cys53Ter)

SNV
Germline

Chr4:987809

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_758190824

1 SubmittersRCV001975064

NM_000203.5(IDUA):c.386-1G>A

SNV
Germline

Chr4:1000881

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153021698

1 SubmittersRCV001956542

NM_000203.5(IDUA):c.607G>A (p.Asp203Asn)

SNV
Germline

Chr4:1001696

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153021976

1 SubmittersRCV001956544

NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro)

SNV
Germline

Chr4:1003099

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1416328981

1 SubmittersRCV002041304

NM_000203.5(IDUA):c.224C>T (p.Ala75Val)

SNV
Germline

Chr4:987874

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1315260083

1 SubmittersRCV001956964

NM_000203.5(IDUA):c.1525-2A>C

SNV
Germline

Chr4:1003343

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_2153022881

1 SubmittersRCV002043892

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

rs_2153021926

2 SubmittersRCV002052114 RCV004801138

NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu)

SNV
Germline

Chr4:1004065

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143621769

2 SubmittersRCV002125314 RCV003130690

NM_000203.5(IDUA):c.1198C>T (p.Gln400Ter)

SNV
Germline

Chr4:1002740

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

rs_1354690186

1 SubmittersRCV002238558

NM_000203.5(IDUA):c.956C>T (p.Ala319Val)

SNV
Germline

Chr4:1002145

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781534097

3 SubmittersRCV002240078 RCV003134402

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

rs_781534097

2 SubmittersRCV002249078 RCV003101337

NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)

SNV
Germline

Chr4:1002824

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002302453

NM_000203.5(IDUA):c.1271C>T (p.Ala424Val)

SNV
Germline

Chr4:1002813

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003052741 RCV003294415

NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)

SNV
Germline

Chr4:1000625

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003077856 RCV004071827

NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)

SNV
Germline

Chr4:1002144

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003070477 RCV003134643

NM_000203.5(IDUA):c.1829-1G>C

SNV
Germline

Chr4:1004259

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003090738

NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)

SNV
Germline

Chr4:1001712

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002607336

NM_000203.5(IDUA):c.1936G>C (p.Gly646Arg)

SNV
Germline

Chr4:1004367

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002592185 RCV004985219

NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)

SNV
Germline

Chr4:1001702

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002603398

NM_000203.5(IDUA):c.793-2A>G

SNV
Germline

Chr4:1001980

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002629074

NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)

SNV
Germline

Chr4:1002872

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002634112 RCV003130859 RCV002634113

NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)

SNV
Germline

Chr4:1001518

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Reviewed By Expert Panel

3 SubmittersRCV002629390 RCV004820929

NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)

SNV
Germline

Chr4:1003417

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002629834 RCV003130862

NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)

SNV
Germline

Chr4:1001506

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003140147 RCV002651787

NM_000203.5(IDUA):c.718C>T (p.His240Tyr)

SNV
Germline

Chr4:1001807

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003105080

NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)

SNV
Germline

Chr4:1003381

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003112112 RCV004779485 RCV004985280

NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)

SNV
Germline

Chr4:1002383

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002587627

NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)

SNV
Germline

Chr4:1003418

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002722150 RCV004700820

NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)

SNV
Germline

Chr4:1003607

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002761384

NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)

SNV
Germline

Chr4:1002387

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002848228

NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr4:1001560

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002907914

NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)

SNV
Germline

Chr4:987948

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided
IDUA-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002952549 RCV003130782 RCV003403968

NM_000203.5(IDUA):c.1403-1G>A

SNV
Germline

Chr4:1003035

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002938332

NM_000203.5(IDUA):c.1525-1G>A

SNV
Germline

Chr4:1003344

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003015089

NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)

SNV
Germline

Chr4:1003607

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003135732 RCV003778708

NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)

SNV
Germline

Chr4:1002443

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003131245 RCV003778710

NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)

SNV
Germline

Chr4:1002143

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003592393

NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)

SNV
Germline

Chr4:1002865

Likely pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

2 SubmittersRCV003592577

NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)

SNV
Germline

Chr4:987207

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003593295

NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)

SNV
Germline

Chr4:987853

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003593296

NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)

SNV
Germline

Chr4:1001510

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003593298

NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)

SNV
Germline

Chr4:1001744

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003591421

NM_000203.5(IDUA):c.493+1G>T

SNV
Germline

Chr4:1000990

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003592163

NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)

SNV
Germline

Chr4:1002395

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003755087

NM_000203.5(IDUA):c.901G>C (p.Asp301His)

SNV
Germline

Chr4:1002090

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003755220

NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)

SNV
Germline

Chr4:1001514

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003755528

NM_000203.5(IDUA):c.1737G>A (p.Trp579Ter)

SNV
Germline

Chr4:1004021

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003755699

NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)

SNV
Germline

Chr4:1002865

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003755736

NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)

SNV
Germline

Chr4:1001863

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003755825

NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)

SNV
Germline

Chr4:987915

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003755737

NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)

SNV
Germline

Chr4:1004305

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003756469

NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)

SNV
Germline

Chr4:1002387

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003820064

NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)

SNV
Germline

Chr4:1000679

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003879814

NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)

SNV
Germline

Chr4:1002015

Pathogenic

Mucopolysaccharidosis type 1
IDUA-related core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690507 RCV004587627