Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	SNV Germline	Chr4:1002747	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-H/S See cases Inborn genetic diseases IDUA-related disorder Mucopolysaccharidosis type 1 Hurler syndrome	Reviewed By Expert Panel	CA220498	rs_121965019	30 SubmittersRCV000012683 RCV000078374 RCV000384297 RCV000477890 RCV001004934 RCV002251896 RCV002512986 RCV003398488 RCV005428992
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	SNV Germline	Chr4:1003418	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Inborn genetic diseases Mucopolysaccharidosis, MPS-I-S	Reviewed By Expert Panel	CA256112	rs_121965021	17 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.928C>T (p.Gln310Ter)	SNV Germline	Chr4:1002117	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA256115	rs_121965023	2 SubmittersRCV000012690 RCV005252031
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	SNV Germline	Chr4:1004292	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA256118	rs_121965025	9 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-H/S Hurler syndrome Mucopolysaccharidosis, MPS-I-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 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Reviewed By Expert Panel	CA256124	rs_121965029	8 SubmittersRCV000012697 RCV000169784 RCV000208598 RCV005042034
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	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1 Hurler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA256125	rs_121965031	4 SubmittersRCV000012699 RCV003591628 RCV000666715
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	SNV Germline	Chr4:1002387	Pathogenic	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis, MPS-I-S Hurler syndrome Condition: not provided	Reviewed By Expert Panel	CA256126	rs_121965032	8 SubmittersRCV000012700 RCV000588505 RCV005031435 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 Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA256128	rs_121965033	6 SubmittersRCV000012702 RCV000012703 RCV001248726 RCV005042035
NM_000203.5(IDUA):c.1962A>T (p.Ter654Cys)	SNV Germline	Chr4:1004393	Likely pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel		rs_199794428	1 SubmittersRCV005252039
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 Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220504	rs_398123256	4 SubmittersRCV000173987 RCV001387944 RCV000790663
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	4 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 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA234128	rs_199801029	16 SubmittersRCV000180108 RCV000208605 RCV000790804 RCV005031662
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	SNV Germline	Chr4:987236	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Reviewed By Expert Panel	CA274902	rs_794726877	10 SubmittersRCV000173082 RCV000208594 RCV000723421 RCV002505243
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	SNV Germline	Chr4:987137	Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA238566	rs_794726878	9 SubmittersRCV000592086 RCV000724295 RCV001248919
NM_000203.5(IDUA):c.245A>C (p.His82Pro)	SNV Germline	Chr4:987895	Conflicting classifications of pathogenicity	not specified Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA201510	rs_794727239	7 SubmittersRCV000175552 RCV000664739 RCV000779453 RCV003129795
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 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Conflicting Classifications	CA247499	rs_794727896	7 SubmittersRCV000597524 RCV000723454 RCV001249042 RCV005042393
NM_000203.5(IDUA):c.386-2A>G	SNV Germline	Chr4:1000880	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Reviewed By Expert Panel	CA356991	rs_777295041	12 SubmittersRCV000208607 RCV000666721 RCV001550709 RCV002288837 RCV005031783
NM_000203.5(IDUA):c.590-7G>A	SNV Germline	Chr4:1001672	Pathogenic	Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided	Reviewed By Expert Panel	CA356990	rs_762411583	8 SubmittersRCV000012688 RCV000208601 RCV000669065 RCV003137798
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	SNV Germline	Chr4:1001742	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA356986	rs_869025584	7 SubmittersRCV000208593 RCV000672514 RCV000592964 RCV002500671
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)	SNV Germline	Chr4:1002325	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Reviewed By Expert Panel	CA356984	rs_764196171	3 SubmittersRCV000208592 RCV001169956
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	SNV Germline	Chr4:987873	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided	Reviewed By Expert Panel	CA356994	rs_758452450	7 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	CA356987	rs_747981483	4 SubmittersRCV001956540 RCV003130640
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)	SNV Germline	Chr4:1001497	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10576337	rs_875989946	3 SubmittersRCV000211578 RCV003591715 RCV003129812
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	SNV Germline	Chr4:1001802	Pathogenic	Condition: not provided Mucopolysaccharidosis type 1 Hurler syndrome IDUA-related disorder	Reviewed By Expert Panel	CA2802065	rs_148789453	8 SubmittersRCV000256027 RCV000802940 RCV000668680 RCV004751408
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	SNV Germline	Chr4:1004286	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis, MPS-I-H/S	Reviewed By Expert Panel	CA2802455	rs_121965031	10 SubmittersRCV000337972 RCV000723407 RCV000780351 RCV005044523
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	7 SubmittersRCV000289453 RCV000631460 RCV002446510
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)	SNV Germline	Chr4:1004329	Likely pathogenic	Condition: not provided Mucopolysaccharidosis type 1 Inborn genetic diseases	Reviewed By Expert Panel	CA10605410	rs_886043347	7 SubmittersRCV000323838 RCV001248897 RCV001267071
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser)	SNV Germline	Chr4:1001555	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA2801997	rs_575667885	2 SubmittersRCV000316333 RCV002518994
NM_000203.5(IDUA):c.793-9C>T	SNV Germline	Chr4:1001973	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 not specified	Criteria Provided Conflicting Classifications	CA2802094	rs_375798875	5 SubmittersRCV000297551 RCV005431635
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)	SNV Germline	Chr4:1002887	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided not specified Inborn genetic diseases IDUA-related disorder	Criteria Provided Conflicting Classifications	CA2802233	rs_532731688	10 SubmittersRCV000340208 RCV000596643 RCV000999899 RCV004021975 RCV003912489
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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2802271	rs_370394527	5 SubmittersRCV000390925 RCV000675613 RCV002392914
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 IDUA-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2802193	rs_140564189	5 SubmittersRCV000412931 RCV000970962 RCV002436237 RCV003972556 RCV003133251
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	Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA91169370	rs_794727896	8 SubmittersRCV000592196 RCV000723433 RCV001215791
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)	SNV Germline	Chr4:1003120	Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Reviewed By Expert Panel	CA2802275	rs_772416503	10 SubmittersRCV000592777 RCV000723457 RCV000780349 RCV005044877
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)	SNV Germline	Chr4:1002112	Conflicting classifications of pathogenicity	Condition: not provided Hurler syndrome Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Conflicting Classifications	CA2802119	rs_752337969	6 SubmittersRCV000595653 RCV000668685 RCV001248917 RCV005044895
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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2801097	rs_180984980	6 SubmittersRCV000631451 RCV003133418 RCV002528855
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	SNV Germline	Chr4:1001510	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355961718	rs_776098539	5 SubmittersRCV000672356 RCV001378363
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	SNV Germline	Chr4:1002435	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Reviewed By Expert Panel	CA2802202	rs_762903007	7 SubmittersRCV000665646 RCV002263927 RCV001861745 RCV005046854
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)	SNV Germline	Chr4:1002752	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA355963563	rs_1340421020	4 SubmittersRCV000667300 RCV000781475
NM_000203.5(IDUA):c.1402+1G>A	SNV Germline	Chr4:1002945	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355964379	rs_398123254	3 SubmittersRCV000671317 RCV005034261 RCV005252057
NM_000203.5(IDUA):c.1728-1G>C	SNV Germline	Chr4:1004011	Pathogenic	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-H/S Condition: not provided	Reviewed By Expert Panel	CA355965306	rs_1249951282	6 SubmittersRCV001249440 RCV001810477 RCV001592853
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)	SNV Germline	Chr4:1001522	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961745	rs_1238128027	2 SubmittersRCV000666385 RCV002530682
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)	SNV Germline	Chr4:1002325	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel	CA2802166	rs_764196171	6 SubmittersRCV000665229 RCV001387754 RCV003140058
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)	SNV Germline	Chr4:1002340	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2802172	rs_746766617	3 SubmittersRCV000674066 RCV000807531 RCV001784290
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)	SNV Germline	Chr4:1002411	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355963365	rs_1553917304	2 SubmittersRCV000670452 RCV002532101
NM_000203.5(IDUA):c.1402+2T>G	SNV Germline	Chr4:1002946	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355964392	rs_1553917428	3 SubmittersRCV000668513 RCV000807158
NM_000203.5(IDUA):c.1829-2A>G	SNV Germline	Chr4:1004258	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355965877	rs_1553917733	2 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	CA2802451	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 Single Submitter	CA355965929	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	CA355966010	rs_886043347	6 SubmittersRCV000672407 RCV001380047 RCV002499181 RCV004817901
NM_000203.5(IDUA):c.300-3C>G	SNV Germline	Chr4:1000609	Pathogenic	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA549265042	rs_1226056948	4 SubmittersRCV000012701 RCV000666654 RCV001043397
NM_000203.5(IDUA):c.385+1G>C	SNV Germline	Chr4:1000698	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA2801887	rs_780615798	5 SubmittersRCV000667145 RCV000675601 RCV001387753
NM_000203.5(IDUA):c.494-1G>A	SNV Germline	Chr4:1001467	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355961634	rs_794727701	3 SubmittersRCV000674145 RCV004800531
NM_000203.5(IDUA):c.589+1G>A	SNV Germline	Chr4:1001564	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961842	rs_1293215555	2 SubmittersRCV000674301 RCV001861838
NM_000203.5(IDUA):c.793-1G>A	SNV Germline	Chr4:1001981	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2802097	rs_762779421	4 SubmittersRCV000673620 RCV001065448 RCV001784285
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	SNV Germline	Chr4:1001695	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Reviewed By Expert Panel	CA355961907	rs_1033313360	7 SubmittersRCV000667572 RCV001389275 RCV005034245
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)	SNV Germline	Chr4:1001712	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA355961948	rs_1430681871	4 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	CA91169837	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	CA2802076	rs_546933529	6 SubmittersRCV000669801 RCV000916227 RCV001265722 RCV001375507 RCV003133497
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)	SNV Germline	Chr4:1002009	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355962341	rs_1553917192	2 SubmittersRCV000668628 RCV001855504
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)	SNV Germline	Chr4:1003606	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA355965252	rs_1553917627	3 SubmittersRCV000666323 RCV002530678 RCV005034241
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)	SNV Germline	Chr4:1004027	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel	CA2802392	rs_776787370	6 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	CA2802184	rs_750496798	5 SubmittersRCV000673313 RCV001784281 RCV001868270
NM_000203.5(IDUA):c.1828+1G>C	SNV Germline	Chr4:1004113	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA91171957	rs_919151683	3 SubmittersRCV000672546 RCV002532127 RCV005034266
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr4:1004313	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2802462	rs_756572099	6 SubmittersRCV000665162 RCV001210649 RCV003488787
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	SNV Germline	Chr4:1002444	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Reviewed By Expert Panel	CA2802205	rs_754949360	6 SubmittersRCV000674420 RCV001233076 RCV001784294 RCV005046910
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)	SNV Germline	Chr4:1002459	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA355963455	rs_794727896	4 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	CA91169863	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	CA91170412	rs_772416503	5 SubmittersRCV000666799 RCV001756126 RCV002530697
NM_000203.5(IDUA):c.1728-2A>G	SNV Germline	Chr4:1004010	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA355965302	rs_1553917699	3 SubmittersRCV000673922 RCV001247821 RCV001784289
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	SNV Germline	Chr4:987085	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355945204	rs_1553914737	3 SubmittersRCV000665207 RCV001390269
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	SNV Germline	Chr4:987087	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA355945212	rs_1553914740	4 SubmittersRCV000673251 RCV003323676
NM_000203.5(IDUA):c.159-1G>A	SNV Germline	Chr4:987808	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355945958	rs_1553914935	2 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 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Conflicting Classifications	CA2801140	rs_780165694	5 SubmittersRCV000667992 RCV002222591 RCV002532065 RCV003133494 RCV005034247
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	SNV Germline	Chr4:987915	Pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA2801156	rs_754966840	5 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	CA2802098	rs_369090960	5 SubmittersRCV000790540 RCV001784404
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)	SNV Germline	Chr4:1002341	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA355963146	rs_368454909	4 SubmittersRCV000790541 RCV005036124
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe)	SNV Germline	Chr4:1003423	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Conflicting Classifications	CA355965038	rs_1577543849	2 SubmittersRCV000790542 RCV005036125
NM_000203.5(IDUA):c.1727+1G>A	SNV Germline	Chr4:1003626	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA355965296	rs_1577544451	2 SubmittersRCV000790543
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)	SNV Germline	Chr4:1003089	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA355964628	rs_1356329915	3 SubmittersRCV000806468 RCV005253138
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)	SNV Germline	Chr4:987086	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA2801095	rs_753767675	3 SubmittersRCV000792346 RCV005047056
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)	SNV Germline	Chr4:987828	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355946098	rs_1577508801	2 SubmittersRCV000811149
NM_000203.5(IDUA):c.1403-1G>T	SNV Germline	Chr4:1003035	Pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel	CA91170263	rs_4690223	4 SubmittersRCV000807838 RCV001784433
NM_000203.5(IDUA):c.1728-1G>A	SNV Germline	Chr4:1004011	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355965305	rs_1249951282	1 SubmittersRCV000794867
NM_000203.5(IDUA):c.408C>T (p.Ala136=)	SNV Germline	Chr4:1000904	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA2801916	rs_138195998	6 SubmittersRCV000887714 RCV003438559 RCV003169234 RCV005436261
NM_000203.5(IDUA):c.30G>A (p.Leu10=)	SNV Germline	Chr4:987114	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA2801100	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	CA2801110	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	CA2801151	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	CA2802186	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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2802277	rs_374102243	3 SubmittersRCV000918405 RCV003130088 RCV003169306
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)	SNV Germline	Chr4:1004084	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA2802412	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	CA2802024	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	CA2802248	rs_764919689	3 SubmittersRCV000998206 RCV002549997
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)	SNV Germline	Chr4:1001704	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA355961931	rs_1715086654	3 SubmittersRCV001058705 RCV001784613 RCV001263615
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)	SNV Germline	Chr4:1002125	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355962707	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 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA91169964	rs_931627770	4 SubmittersRCV001062380 RCV001784619 RCV002482062
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)	SNV Germline	Chr4:1004034	Pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355965360	rs_1715290919	2 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	CA2802106	rs_758749484	2 SubmittersRCV001154741
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)	SNV Germline	Chr4:1004294	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2802460	rs_762586	3 SubmittersRCV001154843 RCV005582556
NM_000203.5(IDUA):c.1402+8G>A	SNV Germline	Chr4:1002952	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA549264596	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	CA1139658407	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	CA91171041	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	CA91171192	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	CA2801162	rs_546988577	2 SubmittersRCV001157968
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)	SNV Germline	Chr4:1000953	Pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355961530	rs_1715035049	3 SubmittersRCV001174838
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)	SNV Germline	Chr4:1004308	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA355965968	rs_1456090810	3 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	CA355962127	rs_1297784711	3 SubmittersRCV001218009 RCV001810498
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)	SNV Germline	Chr4:1002342	Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel	CA2802173	rs_371397270	5 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	CA355945630	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	CA355964826	rs_1553917483	1 SubmittersRCV001210161
NM_000203.5(IDUA):c.590-2A>G	SNV Germline	Chr4:1001677	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961849	rs_1252941339	1 SubmittersRCV001218712
NM_000203.5(IDUA):c.1190-10C>A	SNV Germline	Chr4:1002722	Likely pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Reviewed By Expert Panel	CA1139658405	rs_1443642527	4 SubmittersRCV001222698 RCV005036485
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)	SNV Germline	Chr4:1004391	Pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355966127	rs_387906504	3 SubmittersRCV001233538
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)	SNV Germline	Chr4:1001468	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S not specified Inborn genetic diseases Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA2801966	rs_150763745	5 SubmittersRCV002480846 RCV003987813 RCV004034891 RCV001247276
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	CA355964639	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	CA2802399	rs_144941693	3 SubmittersRCV001239460 RCV002567934
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)	SNV Germline	Chr4:1000935	Likely pathogenic	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1 IDUA-related disorder	Reviewed By Expert Panel	CA355961461	rs_1389029860	4 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	CA2801980	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	CA355962511	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	CA2802034	rs_377312287	4 SubmittersRCV001302700 RCV002357102 RCV003130248
NM_000203.5(IDUA):c.720C>G (p.His240Gln)	SNV Germline	Chr4:1001809	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA355962130	rs_1715096917	2 SubmittersRCV001309288 RCV003490179
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)	SNV Germline	Chr4:1001513	Likely pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA91167249	rs_1044231895	2 SubmittersRCV001321820
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)	SNV Germline	Chr4:1003579	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA91171127	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, MPS-IV-A Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA2802464	rs_200448421	4 SubmittersRCV001374701 RCV001780270 RCV003229620 RCV001865868
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	CA355963126	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	CA355965146	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	CA355965934	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	CA355945951	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	CA355945953	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	CA355961908	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	CA355963348	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	CA355965553	rs_867456178	1 SubmittersRCV001380386
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)	SNV Germline	Chr4:1004329	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA355966009	rs_886043347	4 SubmittersRCV001380046 RCV005038174
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)	SNV Germline	Chr4:987837	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA355946148	rs_2153015621	2 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	CA91169920	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	CA438057521	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	CA2801146	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	CA355964729	rs_1715216061	4 SubmittersRCV001765415 RCV001882889 RCV004699458
NM_000203.5(IDUA):c.1622G>T (p.Cys541Phe)	SNV Germline	Chr4:1003442	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA91170824	rs_950213013	3 SubmittersRCV001767632 RCV002540401
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter)	SNV Germline	Chr4:1001514	Pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel	CA355961724	rs_2153021904	3 SubmittersRCV001779451 RCV003136149
NM_000203.5(IDUA):c.1650+1G>T	SNV Germline	Chr4:1003471	Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel	CA355965141	rs_1434521185	2 SubmittersRCV005430825 RCV001783456
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	CA355946725	rs_398123259	2 SubmittersRCV001783457 RCV003754918
NM_000203.5(IDUA):c.1A>G (p.Met1Val)	SNV Germline	Chr4:987085	Pathogenic	Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel	CA355945206	rs_1553914737	3 SubmittersRCV001868850 RCV001783462
NM_000203.5(IDUA):c.1402+1G>T	SNV Germline	Chr4:1002945	Likely pathogenic	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1 Condition: not provided	Reviewed By Expert Panel	CA355964387	rs_398123254	5 SubmittersRCV001810512 RCV001825037 RCV001783463
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	CA355965079	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	CA355965133	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	CA355965948	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	CA355961915	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	CA2802118	rs_767140903	1 SubmittersRCV002046291
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)	SNV Germline	Chr4:1002336	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis, MPS-I-S not specified	Criteria Provided Conflicting Classifications	CA91169040	rs_780106243	4 SubmittersRCV001973995 RCV003134312 RCV005042636 RCV003230722
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr)	SNV Germline	Chr4:1001703	Likely pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355961928	rs_1715086540	3 SubmittersRCV001961290
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr)	SNV Germline	Chr4:1001696	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961912	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	CA355962147	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	CA355962116	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	CA355965027	rs_374779600	1 SubmittersRCV001993984
NM_000203.5(IDUA):c.590-1G>A	SNV Germline	Chr4:1001678	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961851	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	CA2801986	rs_776098539	4 SubmittersRCV001942261 RCV003130637
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly)	SNV Germline	Chr4:1003146	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 not specified	Criteria Provided Conflicting Classifications	CA355964784	rs_1715218377	2 SubmittersRCV001995767 RCV005057879
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter)	SNV Germline	Chr4:987131	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA91144668	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	CA91167233	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	CA355962528	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	CA355964724	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	CA355945972	rs_758190824	1 SubmittersRCV001975064
NM_000203.5(IDUA):c.386-1G>A	SNV Germline	Chr4:1000881	Pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355961254	rs_2153021698	2 SubmittersRCV001956542
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn)	SNV Germline	Chr4:1001696	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961909	rs_2153021976	1 SubmittersRCV001956544
NM_000203.5(IDUA):c.159C>T (p.Cys53=)	SNV Germline	Chr4:987809	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 not specified	Criteria Provided Conflicting Classifications	CA2801127	rs_758190824	2 SubmittersRCV001984935 RCV005437434
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro)	SNV Germline	Chr4:1003099	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355964650	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	CA355946381	rs_1315260083	1 SubmittersRCV001956964
NM_000203.5(IDUA):c.1525-2A>C	SNV Germline	Chr4:1003343	Likely pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA355964856	rs_2153022881	2 SubmittersRCV002043892 RCV005256514
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)	SNV Germline	Chr4:1001563	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA355961839	rs_2153021926	2 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	CA2802406	rs_143621769	2 SubmittersRCV002125314 RCV003130690
NM_000203.5(IDUA):c.1198C>T (p.Gln400Ter)	SNV Germline	Chr4:1002740	Pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355963534	rs_1354690186	2 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	CA2802126	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	CA355962816	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	CA355963799	rs_2534092933	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	CA91169972	rs_886043839	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	CA2801870	rs_779553529	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	CA91168572	rs_374699130	3 SubmittersRCV003070477 RCV003134643
NM_000203.5(IDUA):c.1829-1G>C	SNV Germline	Chr4:1004259	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355965879	rs_745915863	1 SubmittersRCV003090738
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)	SNV Germline	Chr4:1001712	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961947	rs_1430681871	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	CA2802479	rs_531602352	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	CA355961927	rs_140294059	1 SubmittersRCV002603398
NM_000203.5(IDUA):c.793-2A>G	SNV Germline	Chr4:1001980	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355962285	rs_2534086833	1 SubmittersRCV002629074
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)	SNV Germline	Chr4:1002872	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA91170029	rs_571833399	3 SubmittersRCV002634113 RCV002634112 RCV003130859
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)	SNV Germline	Chr4:1001518	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Reviewed By Expert Panel	CA2801988	rs_754154200	3 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	CA91170784	rs_374779600	2 SubmittersRCV002629834 RCV003130862
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)	SNV Germline	Chr4:1001506	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA355961709	rs_992336192	5 SubmittersRCV002651787 RCV003140147 RCV005034825
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)	SNV Germline	Chr4:1001983	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA91168317	rs_931510421	2 SubmittersRCV002651788 RCV003134683
NM_000203.5(IDUA):c.1727+6T>A	SNV Germline	Chr4:1003631	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA2580070698	rs_2534099860	1 SubmittersRCV002651791
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)	SNV Germline	Chr4:1001807	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355962124	rs_1374359136	1 SubmittersRCV003105080
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)	SNV Germline	Chr4:1003381	Conflicting classifications of pathogenicity	Mucopolysaccharidosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA355964966	rs_1358581212	3 SubmittersRCV003112112 RCV004985280 RCV004779485
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)	SNV Germline	Chr4:1002383	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355963302	rs_750496798	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	CA355965028	rs_121965021	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	CA355965255	rs_753905054	2 SubmittersRCV002761384
NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)	SNV Germline	Chr4:1001560	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961832	rs_2534083333	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	CA2801159	rs_201345740	3 SubmittersRCV002952549 RCV003130782 RCV003403968
NM_000203.5(IDUA):c.1403-1G>A	SNV Germline	Chr4:1003035	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA91170257	rs_4690223	1 SubmittersRCV002938332
NM_000203.5(IDUA):c.1525-1G>A	SNV Germline	Chr4:1003344	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355964862	rs_2534097045	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	CA2802357	rs_753905054	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	CA355963424	rs_751396984	2 SubmittersRCV003131245 RCV003778710
NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)	SNV Germline	Chr4:1002143	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355962805	rs_1400939830	1 SubmittersRCV003592393
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)	SNV Germline	Chr4:1002865	Likely pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355963971	rs_1463087550	2 SubmittersRCV003592577
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)	SNV Germline	Chr4:987207	Pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel	CA355945567	rs_1219417104	2 SubmittersRCV003593295
NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)	SNV Germline	Chr4:987853	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA2801137	rs_754212720	2 SubmittersRCV003593296
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)	SNV Germline	Chr4:1001510	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961717	rs_776098539	1 SubmittersRCV003593298
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)	SNV Germline	Chr4:1001744	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355962003	rs_2534084817	1 SubmittersRCV003591421
NM_000203.5(IDUA):c.493+1G>T	SNV Germline	Chr4:1000990	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961627	rs_1553916957	1 SubmittersRCV003592163
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)	SNV Germline	Chr4:1002395	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355963327	rs_751547595	1 SubmittersRCV003755087
NM_000203.5(IDUA):c.901G>C (p.Asp301His)	SNV Germline	Chr4:1002090	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355962523	rs_1715120665	1 SubmittersRCV003755220
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)	SNV Germline	Chr4:1001514	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961725	rs_2153021904	1 SubmittersRCV003755528
NM_000203.5(IDUA):c.1737G>A (p.Trp579Ter)	SNV Germline	Chr4:1004021	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355965328	rs_2534102276	1 SubmittersRCV003755699
NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)	SNV Germline	Chr4:1002865	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355963974	rs_1463087550	1 SubmittersRCV003755736
NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)	SNV Germline	Chr4:1001863	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355962241	rs_1276524614	1 SubmittersRCV003755825
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)	SNV Germline	Chr4:987915	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355946541	rs_754966840	2 SubmittersRCV003755737
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)	SNV Germline	Chr4:1004305	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355965961	rs_587779401	1 SubmittersRCV003756469
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)	SNV Germline	Chr4:1000679	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter	CA355961183	rs_577729544	1 SubmittersRCV003879814
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)	SNV Germline	Chr4:1002015	Likely pathogenic	IDUA-related core myopathy Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1	Reviewed By Expert Panel		rs_2534087208	4 SubmittersRCV004587627 RCV005038695 RCV004690507
NM_000203.5(IDUA):c.1727+5G>A	SNV Germline	Chr4:1003630	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV005033175 RCV005112866
NM_000203.5(IDUA):c.615C>G (p.Cys205Trp)	SNV Germline	Chr4:1001704	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005070454
NM_000203.5(IDUA):c.1854C>G (p.Tyr618Ter)	SNV Germline	Chr4:1004285	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005114811
NM_000203.5(IDUA):c.1090A>T (p.Thr364Ser)	SNV Germline	Chr4:1002386	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005112103
NM_000203.5(IDUA):c.1524+1G>C	SNV Germline	Chr4:1003158	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005133589
NM_000203.5(IDUA):c.973-2A>G	SNV Germline	Chr4:1002267	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005131214
NM_000203.5(IDUA):c.494-2A>C	SNV Germline	Chr4:1001466	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005137215
NM_000203.5(IDUA):c.721T>C (p.Cys241Arg)	SNV Germline	Chr4:1001810	Pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005200429
NM_000203.5(IDUA):c.385+1G>A	SNV Germline	Chr4:1000698	Pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel			1 SubmittersRCV005252094
NM_000203.5(IDUA):c.779C>T (p.Ser260Phe)	SNV Germline	Chr4:1001868	Likely pathogenic	Mucopolysaccharidosis type 1	Criteria Provided Single Submitter			2 SubmittersRCV005408373
NM_000203.5(IDUA):c.809T>G (p.Ile270Ser)	SNV Germline	Chr4:1001998	Likely pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel			1 SubmittersRCV005430856
NM_000203.5(IDUA):c.501C>A (p.Tyr167Ter)	SNV Germline	Chr4:1001475	Pathogenic	Mucopolysaccharidosis type 1	Reviewed By Expert Panel			1 SubmittersRCV005430857
NM_000203.5(IDUA):c.793-1G>T	SNV Germline	Chr4:1001981	Likely pathogenic	Mucopolysaccharidosis type 1	No Assertion Criteria Provided			1 SubmittersRCV005619985
NM_000203.5(IDUA):c.503G>T (p.Gly168Val)	SNV Germline	Chr4:1001477	Likely pathogenic	Mucopolysaccharidosis type 1	No Assertion Criteria Provided			1 SubmittersRCV005619998
NM_000203.5(IDUA):c.793-2A>C	SNV Germline	Chr4:1001980	Likely pathogenic	Mucopolysaccharidosis type 1	No Assertion Criteria Provided			1 SubmittersRCV005620026
NM_000203.5(IDUA):c.546G>C (p.Glu182Asp)	SNV Germline	Chr4:1001520	Likely pathogenic	Mucopolysaccharidosis type 1	No Assertion Criteria Provided			1 SubmittersRCV005620030

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

SNV
Germline

Chr4:1002747

Pathogenic

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

Reviewed By Expert Panel

CA220498

rs_121965019

30 SubmittersRCV000012683 RCV000078374 RCV000384297 RCV000477890 RCV001004934 RCV002251896 RCV002512986 RCV003398488 RCV005428992

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

SNV
Germline

Chr4:1003418

Pathogenic

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

Reviewed By Expert Panel

CA256112

rs_121965021

17 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.928C>T (p.Gln310Ter)

SNV
Germline

Chr4:1002117

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA256115

rs_121965023

2 SubmittersRCV000012690 RCV005252031

NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)

SNV
Germline

Chr4:1004292

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256118

rs_121965025

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

Reviewed By Expert Panel

CA256124

rs_121965029

8 SubmittersRCV000012697 RCV000169784 RCV000208598 RCV005042034

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256125

rs_121965031

4 SubmittersRCV000012699 RCV003591628 RCV000666715

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

SNV
Germline

Chr4:1002387

Pathogenic

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

Reviewed By Expert Panel

CA256126

rs_121965032

8 SubmittersRCV000012700 RCV000588505 RCV005031435 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
Mucopolysaccharidosis, MPS-I-H/S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-S

Criteria Provided
Multiple Submitters
No Conflicts

CA256128

rs_121965033

6 SubmittersRCV000012702 RCV000012703 RCV001248726 RCV005042035

NM_000203.5(IDUA):c.1962A>T (p.Ter654Cys)

SNV
Germline

Chr4:1004393

Likely pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

rs_199794428

1 SubmittersRCV005252039

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
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220504

rs_398123256

4 SubmittersRCV000173987 RCV001387944 RCV000790663

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

4 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
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Multiple Submitters
No Conflicts

CA234128

rs_199801029

16 SubmittersRCV000180108 RCV000208605 RCV000790804 RCV005031662

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

SNV
Germline

Chr4:987236

Pathogenic

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

Reviewed By Expert Panel

CA274902

rs_794726877

10 SubmittersRCV000173082 RCV000208594 RCV000723421 RCV002505243

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

SNV
Germline

Chr4:987137

Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA238566

rs_794726878

9 SubmittersRCV000592086 RCV000724295 RCV001248919

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

SNV
Germline

Chr4:987895

Conflicting classifications of pathogenicity

not specified
Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201510

rs_794727239

7 SubmittersRCV000175552 RCV000664739 RCV000779453 RCV003129795

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

Criteria Provided
Conflicting Classifications

CA247499

rs_794727896

7 SubmittersRCV000597524 RCV000723454 RCV001249042 RCV005042393

NM_000203.5(IDUA):c.386-2A>G

SNV
Germline

Chr4:1000880

Pathogenic

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

Reviewed By Expert Panel

CA356991

rs_777295041

12 SubmittersRCV000208607 RCV000666721 RCV001550709 RCV002288837 RCV005031783

NM_000203.5(IDUA):c.590-7G>A

SNV
Germline

Chr4:1001672

Pathogenic

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

Reviewed By Expert Panel

CA356990

rs_762411583

8 SubmittersRCV000012688 RCV000208601 RCV000669065 RCV003137798

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

SNV
Germline

Chr4:1001742

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356986

rs_869025584

7 SubmittersRCV000208593 RCV000672514 RCV000592964 RCV002500671

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

SNV
Germline

Chr4:1002325

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Reviewed By Expert Panel

CA356984

rs_764196171

3 SubmittersRCV000208592 RCV001169956

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

SNV
Germline

Chr4:987873

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome
Condition: not provided

Reviewed By Expert Panel

CA356994

rs_758452450

7 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

CA356987

rs_747981483

4 SubmittersRCV001956540 RCV003130640

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

SNV
Germline

Chr4:1001497

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576337

rs_875989946

3 SubmittersRCV000211578 RCV003591715 RCV003129812

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

SNV
Germline

Chr4:1001802

Pathogenic

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

Reviewed By Expert Panel

CA2802065

rs_148789453

8 SubmittersRCV000256027 RCV000802940 RCV000668680 RCV004751408

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

SNV
Germline

Chr4:1004286

Pathogenic

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

Reviewed By Expert Panel

CA2802455

rs_121965031

10 SubmittersRCV000337972 RCV000723407 RCV000780351 RCV005044523

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

7 SubmittersRCV000289453 RCV000631460 RCV002446510

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

SNV
Germline

Chr4:1004329

Likely pathogenic

Condition: not provided
Mucopolysaccharidosis type 1
Inborn genetic diseases

Reviewed By Expert Panel

CA10605410

rs_886043347

7 SubmittersRCV000323838 RCV001248897 RCV001267071

NM_000203.5(IDUA):c.581C>G (p.Thr194Ser)

SNV
Germline

Chr4:1001555

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA2801997

rs_575667885

2 SubmittersRCV000316333 RCV002518994

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

SNV
Germline

Chr4:1001973

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
not specified

Criteria Provided
Conflicting Classifications

CA2802094

rs_375798875

5 SubmittersRCV000297551 RCV005431635

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

SNV
Germline

Chr4:1002887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2802233

rs_532731688

10 SubmittersRCV000340208 RCV000596643 RCV000999899 RCV004021975 RCV003912489

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2802271

rs_370394527

5 SubmittersRCV000390925 RCV000675613 RCV002392914

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
IDUA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2802193

rs_140564189

5 SubmittersRCV000412931 RCV000970962 RCV002436237 RCV003972556 RCV003133251

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

Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA91169370

rs_794727896

8 SubmittersRCV000592196 RCV000723433 RCV001215791

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

SNV
Germline

Chr4:1003120

Likely pathogenic

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

Reviewed By Expert Panel

CA2802275

rs_772416503

10 SubmittersRCV000592777 RCV000723457 RCV000780349 RCV005044877

NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)

SNV
Germline

Chr4:1002112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2802119

rs_752337969

6 SubmittersRCV000595653 RCV000668685 RCV001248917 RCV005044895

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2801097

rs_180984980

6 SubmittersRCV000631451 RCV003133418 RCV002528855

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

SNV
Germline

Chr4:1001510

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355961718

rs_776098539

5 SubmittersRCV000672356 RCV001378363

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

SNV
Germline

Chr4:1002435

Pathogenic

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

Reviewed By Expert Panel

CA2802202

rs_762903007

7 SubmittersRCV000665646 RCV002263927 RCV001861745 RCV005046854

NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)

SNV
Germline

Chr4:1002752

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA355963563

rs_1340421020

4 SubmittersRCV000667300 RCV000781475

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

SNV
Germline

Chr4:1002945

Likely pathogenic

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

Reviewed By Expert Panel

CA355964379

rs_398123254

3 SubmittersRCV000671317 RCV005034261 RCV005252057

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

SNV
Germline

Chr4:1004011

Pathogenic

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

Reviewed By Expert Panel

CA355965306

rs_1249951282

6 SubmittersRCV001249440 RCV001810477 RCV001592853

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

SNV
Germline

Chr4:1001522

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961745

rs_1238128027

2 SubmittersRCV000666385 RCV002530682

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

SNV
Germline

Chr4:1002325

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

CA2802166

rs_764196171

6 SubmittersRCV000665229 RCV001387754 RCV003140058

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

SNV
Germline

Chr4:1002340

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2802172

rs_746766617

3 SubmittersRCV000674066 RCV000807531 RCV001784290

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

SNV
Germline

Chr4:1002411

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355963365

rs_1553917304

2 SubmittersRCV000670452 RCV002532101

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

SNV
Germline

Chr4:1002946

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355964392

rs_1553917428

3 SubmittersRCV000668513 RCV000807158

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

SNV
Germline

Chr4:1004258

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355965877

rs_1553917733

2 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

CA2802451

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
Single Submitter

CA355965929

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

CA355966010

rs_886043347

6 SubmittersRCV000672407 RCV001380047 RCV002499181 RCV004817901

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

SNV
Germline

Chr4:1000609

Pathogenic

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

Reviewed By Expert Panel

CA549265042

rs_1226056948

4 SubmittersRCV000012701 RCV000666654 RCV001043397

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

SNV
Germline

Chr4:1000698

Pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA2801887

rs_780615798

5 SubmittersRCV000667145 RCV000675601 RCV001387753

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

SNV
Germline

Chr4:1001467

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355961634

rs_794727701

3 SubmittersRCV000674145 RCV004800531

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

SNV
Germline

Chr4:1001564

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961842

rs_1293215555

2 SubmittersRCV000674301 RCV001861838

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

SNV
Germline

Chr4:1001981

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2802097

rs_762779421

4 SubmittersRCV000673620 RCV001065448 RCV001784285

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

SNV
Germline

Chr4:1001695

Pathogenic

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

Reviewed By Expert Panel

CA355961907

rs_1033313360

7 SubmittersRCV000667572 RCV001389275 RCV005034245

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

SNV
Germline

Chr4:1001712

Pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA355961948

rs_1430681871

4 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

CA91169837

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

CA2802076

rs_546933529

6 SubmittersRCV000669801 RCV000916227 RCV001265722 RCV001375507 RCV003133497

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

SNV
Germline

Chr4:1002009

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355962341

rs_1553917192

2 SubmittersRCV000668628 RCV001855504

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

SNV
Germline

Chr4:1003606

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA355965252

rs_1553917627

3 SubmittersRCV000666323 RCV002530678 RCV005034241

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

SNV
Germline

Chr4:1004027

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

CA2802392

rs_776787370

6 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

CA2802184

rs_750496798

5 SubmittersRCV000673313 RCV001784281 RCV001868270

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

SNV
Germline

Chr4:1004113

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA91171957

rs_919151683

3 SubmittersRCV000672546 RCV002532127 RCV005034266

NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)

SNV
Germline

Chr4:1004313

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2802462

rs_756572099

6 SubmittersRCV000665162 RCV001210649 RCV003488787

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

SNV
Germline

Chr4:1002444

Pathogenic

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

Reviewed By Expert Panel

CA2802205

rs_754949360

6 SubmittersRCV000674420 RCV001233076 RCV001784294 RCV005046910

NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)

SNV
Germline

Chr4:1002459

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA355963455

rs_794727896

4 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

CA91169863

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

CA91170412

rs_772416503

5 SubmittersRCV000666799 RCV001756126 RCV002530697

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

SNV
Germline

Chr4:1004010

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355965302

rs_1553917699

3 SubmittersRCV000673922 RCV001247821 RCV001784289

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

SNV
Germline

Chr4:987085

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355945204

rs_1553914737

3 SubmittersRCV000665207 RCV001390269

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

SNV
Germline

Chr4:987087

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA355945212

rs_1553914740

4 SubmittersRCV000673251 RCV003323676

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

SNV
Germline

Chr4:987808

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355945958

rs_1553914935

2 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
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S

Criteria Provided
Conflicting Classifications

CA2801140

rs_780165694

5 SubmittersRCV000667992 RCV002222591 RCV002532065 RCV003133494 RCV005034247

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

SNV
Germline

Chr4:987915

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2801156

rs_754966840

5 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

CA2802098

rs_369090960

5 SubmittersRCV000790540 RCV001784404

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

SNV
Germline

Chr4:1002341

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA355963146

rs_368454909

4 SubmittersRCV000790541 RCV005036124

NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe)

SNV
Germline

Chr4:1003423

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA355965038

rs_1577543849

2 SubmittersRCV000790542 RCV005036125

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

SNV
Germline

Chr4:1003626

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA355965296

rs_1577544451

2 SubmittersRCV000790543

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

SNV
Germline

Chr4:1003089

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA355964628

rs_1356329915

3 SubmittersRCV000806468 RCV005253138

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

SNV
Germline

Chr4:987086

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2801095

rs_753767675

3 SubmittersRCV000792346 RCV005047056

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

SNV
Germline

Chr4:987828

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355946098

rs_1577508801

2 SubmittersRCV000811149

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

SNV
Germline

Chr4:1003035

Pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

CA91170263

rs_4690223

4 SubmittersRCV000807838 RCV001784433

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

SNV
Germline

Chr4:1004011

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355965305

rs_1249951282

1 SubmittersRCV000794867

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

SNV
Germline

Chr4:1000904

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2801916

rs_138195998

6 SubmittersRCV000887714 RCV003438559 RCV003169234 RCV005436261

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

SNV
Germline

Chr4:987114

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA2801100

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

CA2801110

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

CA2801151

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

CA2802186

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2802277

rs_374102243

3 SubmittersRCV000918405 RCV003130088 RCV003169306

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

SNV
Germline

Chr4:1004084

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA2802412

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

CA2802024

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

CA2802248

rs_764919689

3 SubmittersRCV000998206 RCV002549997

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

SNV
Germline

Chr4:1001704

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA355961931

rs_1715086654

3 SubmittersRCV001058705 RCV001784613 RCV001263615

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

SNV
Germline

Chr4:1002125

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355962707

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

Criteria Provided
Multiple Submitters
No Conflicts

CA91169964

rs_931627770

4 SubmittersRCV001062380 RCV001784619 RCV002482062

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

SNV
Germline

Chr4:1004034

Pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355965360

rs_1715290919

2 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

CA2802106

rs_758749484

2 SubmittersRCV001154741

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

SNV
Germline

Chr4:1004294

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2802460

rs_762586

3 SubmittersRCV001154843 RCV005582556

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

SNV
Germline

Chr4:1002952

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA549264596

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

CA1139658407

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

CA91171041

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

CA91171192

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

CA2801162

rs_546988577

2 SubmittersRCV001157968

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

SNV
Germline

Chr4:1000953

Pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355961530

rs_1715035049

3 SubmittersRCV001174838

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

SNV
Germline

Chr4:1004308

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA355965968

rs_1456090810

3 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

CA355962127

rs_1297784711

3 SubmittersRCV001218009 RCV001810498

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

SNV
Germline

Chr4:1002342

Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

CA2802173

rs_371397270

5 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

CA355945630

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

CA355964826

rs_1553917483

1 SubmittersRCV001210161

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

SNV
Germline

Chr4:1001677

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961849

rs_1252941339

1 SubmittersRCV001218712

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

SNV
Germline

Chr4:1002722

Likely pathogenic

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

Reviewed By Expert Panel

CA1139658405

rs_1443642527

4 SubmittersRCV001222698 RCV005036485

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

SNV
Germline

Chr4:1004391

Pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355966127

rs_387906504

3 SubmittersRCV001233538

NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)

SNV
Germline

Chr4:1001468

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2801966

rs_150763745

5 SubmittersRCV002480846 RCV003987813 RCV004034891 RCV001247276

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

CA355964639

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

CA2802399

rs_144941693

3 SubmittersRCV001239460 RCV002567934

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

SNV
Germline

Chr4:1000935

Likely pathogenic

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

Reviewed By Expert Panel

CA355961461

rs_1389029860

4 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

CA2801980

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

CA355962511

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

CA2802034

rs_377312287

4 SubmittersRCV001302700 RCV002357102 RCV003130248

NM_000203.5(IDUA):c.720C>G (p.His240Gln)

SNV
Germline

Chr4:1001809

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA355962130

rs_1715096917

2 SubmittersRCV001309288 RCV003490179

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

SNV
Germline

Chr4:1001513

Likely pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA91167249

rs_1044231895

2 SubmittersRCV001321820

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

SNV
Germline

Chr4:1003579

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA91171127

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, MPS-IV-A
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2802464

rs_200448421

4 SubmittersRCV001374701 RCV001780270 RCV003229620 RCV001865868

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

CA355963126

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

CA355965146

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

CA355965934

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

CA355945951

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

CA355945953

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

CA355961908

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

CA355963348

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

CA355965553

rs_867456178

1 SubmittersRCV001380386

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

SNV
Germline

Chr4:1004329

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA355966009

rs_886043347

4 SubmittersRCV001380046 RCV005038174

NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)

SNV
Germline

Chr4:987837

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA355946148

rs_2153015621

2 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

CA91169920

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

CA438057521

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

CA2801146

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

CA355964729

rs_1715216061

4 SubmittersRCV001765415 RCV001882889 RCV004699458

NM_000203.5(IDUA):c.1622G>T (p.Cys541Phe)

SNV
Germline

Chr4:1003442

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA91170824

rs_950213013

3 SubmittersRCV001767632 RCV002540401

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

SNV
Germline

Chr4:1001514

Pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

CA355961724

rs_2153021904

3 SubmittersRCV001779451 RCV003136149

NM_000203.5(IDUA):c.1650+1G>T

SNV
Germline

Chr4:1003471

Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

CA355965141

rs_1434521185

2 SubmittersRCV005430825 RCV001783456

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

CA355946725

rs_398123259

2 SubmittersRCV001783457 RCV003754918

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

SNV
Germline

Chr4:987085

Pathogenic

Mucopolysaccharidosis type 1
Condition: not provided

Reviewed By Expert Panel

CA355945206

rs_1553914737

3 SubmittersRCV001868850 RCV001783462

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

SNV
Germline

Chr4:1002945

Likely pathogenic

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

Reviewed By Expert Panel

CA355964387

rs_398123254

5 SubmittersRCV001810512 RCV001825037 RCV001783463

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

CA355965079

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

CA355965133

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

CA355965948

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

CA355961915

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

CA2802118

rs_767140903

1 SubmittersRCV002046291

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

SNV
Germline

Chr4:1002336

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA91169040

rs_780106243

4 SubmittersRCV001973995 RCV003134312 RCV005042636 RCV003230722

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

SNV
Germline

Chr4:1001703

Likely pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355961928

rs_1715086540

3 SubmittersRCV001961290

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

SNV
Germline

Chr4:1001696

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961912

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

CA355962147

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

CA355962116

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

CA355965027

rs_374779600

1 SubmittersRCV001993984

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

SNV
Germline

Chr4:1001678

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961851

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

CA2801986

rs_776098539

4 SubmittersRCV001942261 RCV003130637

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

SNV
Germline

Chr4:1003146

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
not specified

Criteria Provided
Conflicting Classifications

CA355964784

rs_1715218377

2 SubmittersRCV001995767 RCV005057879

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

SNV
Germline

Chr4:987131

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA91144668

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

CA91167233

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

CA355962528

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

CA355964724

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

CA355945972

rs_758190824

1 SubmittersRCV001975064

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

SNV
Germline

Chr4:1000881

Pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355961254

rs_2153021698

2 SubmittersRCV001956542

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

SNV
Germline

Chr4:1001696

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961909

rs_2153021976

1 SubmittersRCV001956544

NM_000203.5(IDUA):c.159C>T (p.Cys53=)

SNV
Germline

Chr4:987809

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
not specified

Criteria Provided
Conflicting Classifications

CA2801127

rs_758190824

2 SubmittersRCV001984935 RCV005437434

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

SNV
Germline

Chr4:1003099

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355964650

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

CA355946381

rs_1315260083

1 SubmittersRCV001956964

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

SNV
Germline

Chr4:1003343

Likely pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA355964856

rs_2153022881

2 SubmittersRCV002043892 RCV005256514

NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)

SNV
Germline

Chr4:1001563

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA355961839

rs_2153021926

2 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

CA2802406

rs_143621769

2 SubmittersRCV002125314 RCV003130690

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

SNV
Germline

Chr4:1002740

Pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355963534

rs_1354690186

2 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

CA2802126

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

CA355962816

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

CA355963799

rs_2534092933

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

CA91169972

rs_886043839

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

CA2801870

rs_779553529

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

CA91168572

rs_374699130

3 SubmittersRCV003070477 RCV003134643

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

SNV
Germline

Chr4:1004259

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355965879

rs_745915863

1 SubmittersRCV003090738

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

SNV
Germline

Chr4:1001712

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961947

rs_1430681871

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

CA2802479

rs_531602352

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

CA355961927

rs_140294059

1 SubmittersRCV002603398

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

SNV
Germline

Chr4:1001980

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355962285

rs_2534086833

1 SubmittersRCV002629074

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

SNV
Germline

Chr4:1002872

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA91170029

rs_571833399

3 SubmittersRCV002634113 RCV002634112 RCV003130859

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

SNV
Germline

Chr4:1001518

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Reviewed By Expert Panel

CA2801988

rs_754154200

3 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

CA91170784

rs_374779600

2 SubmittersRCV002629834 RCV003130862

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

SNV
Germline

Chr4:1001506

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA355961709

rs_992336192

5 SubmittersRCV002651787 RCV003140147 RCV005034825

NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)

SNV
Germline

Chr4:1001983

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA91168317

rs_931510421

2 SubmittersRCV002651788 RCV003134683

NM_000203.5(IDUA):c.1727+6T>A

SNV
Germline

Chr4:1003631

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA2580070698

rs_2534099860

1 SubmittersRCV002651791

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

SNV
Germline

Chr4:1001807

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355962124

rs_1374359136

1 SubmittersRCV003105080

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

SNV
Germline

Chr4:1003381

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA355964966

rs_1358581212

3 SubmittersRCV003112112 RCV004985280 RCV004779485

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

SNV
Germline

Chr4:1002383

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355963302

rs_750496798

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

CA355965028

rs_121965021

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

CA355965255

rs_753905054

2 SubmittersRCV002761384

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

SNV
Germline

Chr4:1001560

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961832

rs_2534083333

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

CA2801159

rs_201345740

3 SubmittersRCV002952549 RCV003130782 RCV003403968

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

SNV
Germline

Chr4:1003035

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA91170257

rs_4690223

1 SubmittersRCV002938332

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

SNV
Germline

Chr4:1003344

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355964862

rs_2534097045

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

CA2802357

rs_753905054

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

CA355963424

rs_751396984

2 SubmittersRCV003131245 RCV003778710

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

SNV
Germline

Chr4:1002143

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355962805

rs_1400939830

1 SubmittersRCV003592393

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

SNV
Germline

Chr4:1002865

Likely pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355963971

rs_1463087550

2 SubmittersRCV003592577

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

SNV
Germline

Chr4:987207

Pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

CA355945567

rs_1219417104

2 SubmittersRCV003593295

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

SNV
Germline

Chr4:987853

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2801137

rs_754212720

2 SubmittersRCV003593296

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

SNV
Germline

Chr4:1001510

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961717

rs_776098539

1 SubmittersRCV003593298

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

SNV
Germline

Chr4:1001744

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355962003

rs_2534084817

1 SubmittersRCV003591421

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

SNV
Germline

Chr4:1000990

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961627

rs_1553916957

1 SubmittersRCV003592163

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

SNV
Germline

Chr4:1002395

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355963327

rs_751547595

1 SubmittersRCV003755087

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

SNV
Germline

Chr4:1002090

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355962523

rs_1715120665

1 SubmittersRCV003755220

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

SNV
Germline

Chr4:1001514

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961725

rs_2153021904

1 SubmittersRCV003755528

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

SNV
Germline

Chr4:1004021

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355965328

rs_2534102276

1 SubmittersRCV003755699

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

SNV
Germline

Chr4:1002865

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355963974

rs_1463087550

1 SubmittersRCV003755736

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

SNV
Germline

Chr4:1001863

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355962241

rs_1276524614

1 SubmittersRCV003755825

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

SNV
Germline

Chr4:987915

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355946541

rs_754966840

2 SubmittersRCV003755737

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

SNV
Germline

Chr4:1004305

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355965961

rs_587779401

1 SubmittersRCV003756469

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

SNV
Germline

Chr4:1000679

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

CA355961183

rs_577729544

1 SubmittersRCV003879814

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

SNV
Germline

Chr4:1002015

Likely pathogenic

IDUA-related core myopathy
Mucopolysaccharidosis, MPS-I-S
Hurler syndrome
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis type 1

Reviewed By Expert Panel

rs_2534087208

4 SubmittersRCV004587627 RCV005038695 RCV004690507

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

SNV
Germline

Chr4:1003630

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033175 RCV005112866

NM_000203.5(IDUA):c.615C>G (p.Cys205Trp)

SNV
Germline

Chr4:1001704

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005070454

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

SNV
Germline

Chr4:1004285

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005114811

NM_000203.5(IDUA):c.1090A>T (p.Thr364Ser)

SNV
Germline

Chr4:1002386

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005112103

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

SNV
Germline

Chr4:1003158

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005133589

NM_000203.5(IDUA):c.973-2A>G

SNV
Germline

Chr4:1002267

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005131214

NM_000203.5(IDUA):c.494-2A>C

SNV
Germline

Chr4:1001466

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005137215

NM_000203.5(IDUA):c.721T>C (p.Cys241Arg)

SNV
Germline

Chr4:1001810

Pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005200429

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

SNV
Germline

Chr4:1000698

Pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

1 SubmittersRCV005252094

NM_000203.5(IDUA):c.779C>T (p.Ser260Phe)

SNV
Germline

Chr4:1001868

Likely pathogenic

Mucopolysaccharidosis type 1

Criteria Provided
Single Submitter

2 SubmittersRCV005408373

NM_000203.5(IDUA):c.809T>G (p.Ile270Ser)

SNV
Germline

Chr4:1001998

Likely pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

1 SubmittersRCV005430856

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

SNV
Germline

Chr4:1001475

Pathogenic

Mucopolysaccharidosis type 1

Reviewed By Expert Panel

1 SubmittersRCV005430857

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

SNV
Germline

Chr4:1001981

Likely pathogenic

Mucopolysaccharidosis type 1

No Assertion Criteria Provided

1 SubmittersRCV005619985

NM_000203.5(IDUA):c.503G>T (p.Gly168Val)

SNV
Germline

Chr4:1001477

Likely pathogenic

Mucopolysaccharidosis type 1

No Assertion Criteria Provided

1 SubmittersRCV005619998

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

SNV
Germline

Chr4:1001980

Likely pathogenic

Mucopolysaccharidosis type 1

No Assertion Criteria Provided

1 SubmittersRCV005620026

NM_000203.5(IDUA):c.546G>C (p.Glu182Asp)

SNV
Germline

Chr4:1001520

Likely pathogenic

Mucopolysaccharidosis type 1

No Assertion Criteria Provided

1 SubmittersRCV005620030