Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	SNV Germline	Chr4:1002747	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis, MPS-I-H/S See cases Inborn genetic diseases IDUA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220498	rs_121965019	28 SubmittersRCV000012683 RCV000078374 RCV000384297 RCV000477890 RCV001004934 RCV002251896 RCV002512986 RCV003398488
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	SNV Germline	Chr4:1003418	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA256112	rs_121965021	15 SubmittersRCV000012685 RCV000486848 RCV000208595 RCV000763533 RCV001267070
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 Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256113	rs_121965022	5 SubmittersRCV000012689 RCV001851807 RCV003137513
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)	SNV Germline	Chr4:1002117	Pathogenic	Hurler syndrome	No Assertion Criteria Provided	CA256115	rs_121965023	1 SubmittersRCV000012690
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)	SNV Germline	Chr4:1002392	Pathogenic	Hurler syndrome	No Assertion Criteria Provided	CA256117	rs_121965024	1 SubmittersRCV000012691
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	SNV Germline	Chr4:1004292	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA256118	rs_121965025	9 SubmittersRCV000012692 RCV000780350 RCV001781251 RCV002496329
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	13 SubmittersRCV000012694 RCV000173657 RCV000790664 RCV001204340
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	SNV Germline	Chr4:987916	Pathogenic	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA256124	rs_121965029	6 SubmittersRCV000012697 RCV000169784 RCV000208598
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)	SNV Germline	Chr4:1002087	Conflicting classifications of pathogenicity	IDUA pseudodeficiency Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA121772	rs_121965030	5 SubmittersRCV000012698 RCV000667026 RCV001206227 RCV003129751
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)	SNV Germline	Chr4:1004286	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA256125	rs_121965031	3 SubmittersRCV000012699 RCV000666715 RCV003591628
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	SNV Germline	Chr4:1002387	Pathogenic	Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256126	rs_121965032	6 SubmittersRCV000012700 RCV000588505 RCV000984188 RCV003488337
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	SNV Germline	Chr4:1002333	Pathogenic	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA256128	rs_121965033	5 SubmittersRCV000012702 RCV000012703 RCV001248726
NM_000203.5(IDUA):c.1650+5G>A	SNV Germline	Chr4:1003475	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA220504	rs_398123256	4 SubmittersRCV001387944 RCV000790663 RCV000173987
NM_000203.5(IDUA):c.246C>G (p.His82Gln)	SNV Germline	Chr4:987896	Conflicting classifications of pathogenicity; other	Mucopolysaccharidosis type 1 Condition: not provided not specified Inborn genetic diseases Hurler syndrome	Criteria Provided Conflicting Classifications	CA220506	rs_148775298	12 SubmittersRCV000208604 RCV000078387 RCV000245681 RCV002453397 RCV000664463
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.1874A>G (p.Tyr625Cys)	SNV Germline	Chr4:1004305	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA267584	rs_587779401	3 SubmittersRCV000087088 RCV002515779 RCV003129777
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	SNV Germline	Chr4:1002275	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA234128	rs_199801029	15 SubmittersRCV000180108 RCV000208605 RCV000790804
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	SNV Germline	Chr4:987236	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts	CA274902	rs_794726877	9 SubmittersRCV000173082 RCV000208594 RCV000723421 RCV002505243
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	SNV Germline	Chr4:987137	Conflicting classifications of pathogenicity	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA238566	rs_794726878	7 SubmittersRCV000592086 RCV000724295 RCV001248919
NM_000203.5(IDUA):c.245A>C (p.His82Pro)	SNV Germline	Chr4:987895	Conflicting classifications of pathogenicity	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.1163C>A (p.Thr388Lys)	SNV Germline	Chr4:1002459	Conflicting classifications of pathogenicity	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA247499	rs_794727896	5 SubmittersRCV000597524 RCV000723454 RCV001249042
NM_000203.5(IDUA):c.386-2A>G	SNV Germline	Chr4:1000880	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA356991	rs_777295041	10 SubmittersRCV000208607 RCV000666721 RCV001550709 RCV002288837
NM_000203.5(IDUA):c.590-7G>A	SNV Germline	Chr4:1001672	Pathogenic	Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA356990	rs_762411583	7 SubmittersRCV000012688 RCV000208601 RCV000669065 RCV003137798
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	SNV Germline	Chr4:1001742	Pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts	CA356986	rs_869025584	6 SubmittersRCV000208593 RCV000592964 RCV000672514 RCV002500671
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)	SNV Germline	Chr4:1002325	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Criteria Provided Single Submitter	CA356984	rs_764196171	2 SubmittersRCV000208592 RCV001169956
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	SNV Germline	Chr4:987873	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA356994	rs_758452450	6 SubmittersRCV000208613 RCV000670756 RCV001781626
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)	SNV Germline	Chr4:1001497	Conflicting classifications of pathogenicity	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA10576337	rs_875989946	3 SubmittersRCV000211578 RCV003129812 RCV003591715
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	SNV Germline	Chr4:1001802	Pathogenic/Likely pathogenic	Condition: not provided Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA2802065	rs_148789453	6 SubmittersRCV000256027 RCV000668680 RCV000802940
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	SNV Germline	Chr4:1004286	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA2802455	rs_121965031	6 SubmittersRCV000337972 RCV000723407 RCV000780351
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.1163C>G (p.Thr388Arg)	SNV Germline	Chr4:1002459	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA91169370	rs_794727896	7 SubmittersRCV000592196 RCV000723433 RCV001215791
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)	SNV Germline	Chr4:1003120	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA2802275	rs_772416503	8 SubmittersRCV000592777 RCV000723457 RCV000780349
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)	SNV Germline	Chr4:1002112	Conflicting classifications of pathogenicity	Condition: not provided Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications	CA2802119	rs_752337969	5 SubmittersRCV000595653 RCV000668685 RCV001248917
NM_000203.5(IDUA):c.493+1G>A	SNV Unknown	Chr4:1000990	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_1553916957	1 SubmittersRCV000674369
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	SNV Germline	Chr4:1001510	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_776098539	4 SubmittersRCV000672356 RCV001378363
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	SNV Germline	Chr4:1002435	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_762903007	3 SubmittersRCV000665646 RCV002263927 RCV001861745
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)	SNV Germline	Chr4:1002752	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1340421020	4 SubmittersRCV000667300 RCV000781475
NM_000203.5(IDUA):c.1402+1G>A	SNV Unknown	Chr4:1002945	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_398123254	1 SubmittersRCV000671317
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)	SNV Germline	Chr4:1001522	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1238128027	2 SubmittersRCV000666385 RCV002530682
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)	SNV Germline	Chr4:1002325	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_764196171	4 SubmittersRCV000665229 RCV001387754 RCV003140058
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)	SNV Germline	Chr4:1002340	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_746766617	3 SubmittersRCV000674066 RCV000807531 RCV001784290
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)	SNV Germline	Chr4:1002411	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1553917304	2 SubmittersRCV000670452 RCV002532101
NM_000203.5(IDUA):c.1402+2T>G	SNV Germline	Chr4:1002946	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553917428	2 SubmittersRCV000668513 RCV000807158
NM_000203.5(IDUA):c.1650+1G>A	SNV Unknown	Chr4:1003471	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_1434521185	1 SubmittersRCV000669579
NM_000203.5(IDUA):c.1829-2A>G	SNV Germline	Chr4:1004258	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553917733	2 SubmittersRCV000671680 RCV001378536
NM_000203.5(IDUA):c.1829-1G>A	SNV Germline	Chr4:1004259	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_745915863	4 SubmittersRCV000668161 RCV001051181 RCV003144471
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)	SNV Germline	Chr4:1004285	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_746936485	2 SubmittersRCV000670523 RCV003591769
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)	SNV Germline	Chr4:1004329	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-I-S Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S	Criteria Provided Multiple Submitters No Conflicts		rs_886043347	4 SubmittersRCV000672407 RCV001380047 RCV002499181
NM_000203.5(IDUA):c.300-3C>G	SNV Germline	Chr4:1000609	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1226056948	3 SubmittersRCV000012701 RCV000666654 RCV001043397
NM_000203.5(IDUA):c.385+1G>C	SNV Germline	Chr4:1000698	Pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_780615798	4 SubmittersRCV000667145 RCV000675601 RCV001387753
NM_000203.5(IDUA):c.300-1G>A	SNV Unknown	Chr4:1000611	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_1553916890	1 SubmittersRCV000673460
NM_000203.5(IDUA):c.494-1G>A	SNV Unknown	Chr4:1001467	Pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_794727701	1 SubmittersRCV000674145
NM_000203.5(IDUA):c.589+1G>A	SNV Germline	Chr4:1001564	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1293215555	2 SubmittersRCV000674301 RCV001861838
NM_000203.5(IDUA):c.793-1G>A	SNV Germline	Chr4:1001981	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_762779421	4 SubmittersRCV000673620 RCV001065448 RCV001784285
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	SNV Germline	Chr4:1001695	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1033313360	5 SubmittersRCV000667572 RCV001389275
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)	SNV Germline	Chr4:1001712	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1430681871	4 SubmittersRCV000670254 RCV001784262 RCV001855539
NM_000203.5(IDUA):c.1190-2A>T	SNV Germline	Chr4:1002730	Likely pathogenic	Hurler syndrome Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_994902207	3 SubmittersRCV000672521 RCV002493112 RCV003754884
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)	SNV Germline	Chr4:1001846	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1 not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_546933529	6 SubmittersRCV000669801 RCV000916227 RCV001375507 RCV001265722 RCV003133497
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)	SNV Germline	Chr4:1002009	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553917192	2 SubmittersRCV000668628 RCV001855504
NM_000203.5(IDUA):c.1650+2C>G	SNV Unknown	Chr4:1003472	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_1553917580	1 SubmittersRCV000672611
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)	SNV Germline	Chr4:1003606	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_1553917627	2 SubmittersRCV000666323 RCV002530678
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)	SNV Germline	Chr4:1004027	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_776787370	5 SubmittersRCV000665761 RCV001214746 RCV001662734
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)	SNV Germline	Chr4:1002383	Conflicting classifications of pathogenicity	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_750496798	3 SubmittersRCV000673313 RCV001784281 RCV001868270
NM_000203.5(IDUA):c.1828+1G>C	SNV Germline	Chr4:1004113	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_919151683	2 SubmittersRCV000672546 RCV002532127
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr4:1004313	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_756572099	6 SubmittersRCV000665162 RCV001210649 RCV003488787
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	SNV Germline	Chr4:1002444	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_754949360	4 SubmittersRCV000674420 RCV001233076 RCV001784294
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)	SNV Germline	Chr4:1002459	Conflicting classifications of pathogenicity	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_794727896	3 SubmittersRCV000674913 RCV001855616 RCV003129987
NM_000203.5(IDUA):c.1189+5G>A	SNV Germline	Chr4:1002490	Conflicting classifications of pathogenicity	Hurler syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1553917318	2 SubmittersRCV000667005 RCV001784243
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)	SNV Germline	Chr4:1002748	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_991612107	3 SubmittersRCV000671009 RCV003591770
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)	SNV Germline	Chr4:1003120	Conflicting classifications of pathogenicity	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1	Criteria Provided Conflicting Classifications		rs_772416503	4 SubmittersRCV000666799 RCV001756126 RCV002530697
NM_000203.5(IDUA):c.1524+1G>T	SNV Unknown	Chr4:1003158	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_1553917483	1 SubmittersRCV000670935
NM_000203.5(IDUA):c.1728-2A>G	SNV Germline	Chr4:1004010	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1553917699	3 SubmittersRCV000673922 RCV001247821 RCV001784289
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	SNV Germline	Chr4:987085	Pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553914737	3 SubmittersRCV000665207 RCV001390269
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	SNV Germline	Chr4:987087	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553914740	2 SubmittersRCV000673251 RCV003323676
NM_000203.5(IDUA):c.159-1G>A	SNV Germline	Chr4:987808	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553914935	2 SubmittersRCV000672729 RCV003768000
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)	SNV Germline	Chr4:987877	Conflicting classifications of pathogenicity	Hurler syndrome not specified Mucopolysaccharidosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_780165694	4 SubmittersRCV000667992 RCV002222591 RCV002532065 RCV003133494
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	SNV Germline	Chr4:987915	Pathogenic/Likely pathogenic	Mucopolysaccharidosis type 1 Condition: not provided Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S	Criteria Provided Multiple Submitters No Conflicts		rs_754966840	5 SubmittersRCV000703774 RCV001784344 RCV002485752
NM_000203.5(IDUA):c.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		rs_931627770	4 SubmittersRCV001062380 RCV001784619 RCV002482062
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		rs_1456090810	3 SubmittersRCV001193755 RCV002497675
NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)	SNV Germline	Chr5:135029312	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_1752408637	1 SubmittersRCV001201163
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)	SNV Germline	Chr4:1001499	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_776305028	3 SubmittersRCV001264189 RCV001335171 RCV001880075
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)	SNV Germline	Chr4:1002084	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1715120049	4 SubmittersRCV001269274 RCV002275339
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	SNV Germline	Chr4:1004314	Pathogenic/Likely pathogenic	Hurler syndrome Condition: not provided Mucopolysaccharidosis type 1 Mucopolysaccharidosis, MPS-IV-A	Criteria Provided Multiple Submitters No Conflicts		rs_200448421	4 SubmittersRCV001374701 RCV001780270 RCV001865868 RCV003229620
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)	SNV Germline	Chr4:987837	Pathogenic	Mucopolysaccharidosis type 1 Hurler syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2153015621	2 SubmittersRCV001390270 RCV003238366
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp)	SNV Germline	Chr4:1004320	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_2153023301	1 SubmittersRCV001806437
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	SNV Germline	Chr4:1004299	Pathogenic/Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1 Familial hypokalemia-hypomagnesemia	Criteria Provided Multiple Submitters No Conflicts		rs_2153023287	4 SubmittersRCV001824223 RCV001869832 RCV004542135
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro)	SNV Germline	Chr4:1000674	Likely pathogenic	Hurler syndrome	No Assertion Criteria Provided		rs_2153021634	1 SubmittersRCV001843996
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)	SNV Germline	Chr4:1001563	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_2153021926	1 SubmittersRCV002052114
NM_000203.5(IDUA):c.589+1G>T	SNV Germline	Chr4:1001564	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter		rs_1293215555	1 SubmittersRCV002052213
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)	SNV Germline	Chr4:1002145	Likely pathogenic	Hurler syndrome Mucopolysaccharidosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_781534097	2 SubmittersRCV002249078 RCV003101337
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)	SNV Germline	Chr4:1000685	Likely pathogenic	Hurler syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003338925
NM_000203.5(IDUA):c.1759C>T (p.Gln587Ter)	SNV Germline	Chr4:1004043	Pathogenic	IDUA-related disorder Hurler syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003412415 RCV003991057
NM_000203.5(IDUA):c.530T>G (p.Phe177Cys)	SNV Germline	Chr4:1001504	Pathogenic	Hurler syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004437809

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

SNV
Germline

Chr4:1002747

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220498

rs_121965019

28 SubmittersRCV000012683 RCV000078374 RCV000384297 RCV000477890 RCV001004934 RCV002251896 RCV002512986 RCV003398488

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

SNV
Germline

Chr4:1003418

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256112

rs_121965021

15 SubmittersRCV000012685 RCV000486848 RCV000208595 RCV000763533 RCV001267070

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
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256113

rs_121965022

5 SubmittersRCV000012689 RCV001851807 RCV003137513

NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)

SNV
Germline

Chr4:1002117

Pathogenic

Hurler syndrome

No Assertion Criteria Provided

CA256115

rs_121965023

1 SubmittersRCV000012690

NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)

SNV
Germline

Chr4:1002392

Pathogenic

Hurler syndrome

No Assertion Criteria Provided

CA256117

rs_121965024

1 SubmittersRCV000012691

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

SNV
Germline

Chr4:1004292

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256118

rs_121965025

9 SubmittersRCV000012692 RCV000780350 RCV001781251 RCV002496329

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

13 SubmittersRCV000012694 RCV000173657 RCV000790664 RCV001204340

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

SNV
Germline

Chr4:987916

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256124

rs_121965029

6 SubmittersRCV000012697 RCV000169784 RCV000208598

NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)

SNV
Germline

Chr4:1002087

Conflicting classifications of pathogenicity

IDUA pseudodeficiency
Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA121772

rs_121965030

5 SubmittersRCV000012698 RCV000667026 RCV001206227 RCV003129751

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

SNV
Germline

Chr4:1004286

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA256125

rs_121965031

3 SubmittersRCV000012699 RCV000666715 RCV003591628

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

SNV
Germline

Chr4:1002387

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256126

rs_121965032

6 SubmittersRCV000012700 RCV000588505 RCV000984188 RCV003488337

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

SNV
Germline

Chr4:1002333

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256128

rs_121965033

5 SubmittersRCV000012702 RCV000012703 RCV001248726

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

SNV
Germline

Chr4:1003475

Pathogenic/Likely pathogenic

Mucopolysaccharidosis type 1
Condition: not provided
Hurler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA220504

rs_398123256

4 SubmittersRCV001387944 RCV000790663 RCV000173987

NM_000203.5(IDUA):c.246C>G (p.His82Gln)

SNV
Germline

Chr4:987896

Conflicting classifications of pathogenicity; other

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

Criteria Provided
Conflicting Classifications

CA220506

rs_148775298

12 SubmittersRCV000208604 RCV000078387 RCV000245681 RCV002453397 RCV000664463

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.1874A>G (p.Tyr625Cys)

SNV
Germline

Chr4:1004305

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA267584

rs_587779401

3 SubmittersRCV000087088 RCV002515779 RCV003129777

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

SNV
Germline

Chr4:1002275

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA234128

rs_199801029

15 SubmittersRCV000180108 RCV000208605 RCV000790804

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

SNV
Germline

Chr4:987236

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274902

rs_794726877

9 SubmittersRCV000173082 RCV000208594 RCV000723421 RCV002505243

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

SNV
Germline

Chr4:987137

Conflicting classifications of pathogenicity

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA238566

rs_794726878

7 SubmittersRCV000592086 RCV000724295 RCV001248919

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

SNV
Germline

Chr4:987895

Conflicting classifications of pathogenicity

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.1163C>A (p.Thr388Lys)

SNV
Germline

Chr4:1002459

Conflicting classifications of pathogenicity

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA247499

rs_794727896

5 SubmittersRCV000597524 RCV000723454 RCV001249042

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

SNV
Germline

Chr4:1000880

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356991

rs_777295041

10 SubmittersRCV000208607 RCV000666721 RCV001550709 RCV002288837

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

SNV
Germline

Chr4:1001672

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356990

rs_762411583

7 SubmittersRCV000012688 RCV000208601 RCV000669065 RCV003137798

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

SNV
Germline

Chr4:1001742

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356986

rs_869025584

6 SubmittersRCV000208593 RCV000592964 RCV000672514 RCV002500671

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

SNV
Germline

Chr4:1002325

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Criteria Provided
Single Submitter

CA356984

rs_764196171

2 SubmittersRCV000208592 RCV001169956

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

SNV
Germline

Chr4:987873

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356994

rs_758452450

6 SubmittersRCV000208613 RCV000670756 RCV001781626

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

SNV
Germline

Chr4:1001497

Conflicting classifications of pathogenicity

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA10576337

rs_875989946

3 SubmittersRCV000211578 RCV003129812 RCV003591715

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

SNV
Germline

Chr4:1001802

Pathogenic/Likely pathogenic

Condition: not provided
Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2802065

rs_148789453

6 SubmittersRCV000256027 RCV000668680 RCV000802940

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

SNV
Germline

Chr4:1004286

Pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2802455

rs_121965031

6 SubmittersRCV000337972 RCV000723407 RCV000780351

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.1163C>G (p.Thr388Arg)

SNV
Germline

Chr4:1002459

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA91169370

rs_794727896

7 SubmittersRCV000592196 RCV000723433 RCV001215791

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

SNV
Germline

Chr4:1003120

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2802275

rs_772416503

8 SubmittersRCV000592777 RCV000723457 RCV000780349

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

SNV
Germline

Chr4:1002112

Conflicting classifications of pathogenicity

Condition: not provided
Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

CA2802119

rs_752337969

5 SubmittersRCV000595653 RCV000668685 RCV001248917

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

SNV
Unknown

Chr4:1000990

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_1553916957

1 SubmittersRCV000674369

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

SNV
Germline

Chr4:1001510

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_776098539

4 SubmittersRCV000672356 RCV001378363

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

SNV
Germline

Chr4:1002435

Pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_762903007

3 SubmittersRCV000665646 RCV002263927 RCV001861745

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

SNV
Germline

Chr4:1002752

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1340421020

4 SubmittersRCV000667300 RCV000781475

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

SNV
Unknown

Chr4:1002945

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_398123254

1 SubmittersRCV000671317

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

SNV
Germline

Chr4:1001522

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1238128027

2 SubmittersRCV000666385 RCV002530682

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

SNV
Germline

Chr4:1002325

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_764196171

4 SubmittersRCV000665229 RCV001387754 RCV003140058

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

SNV
Germline

Chr4:1002340

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_746766617

3 SubmittersRCV000674066 RCV000807531 RCV001784290

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

SNV
Germline

Chr4:1002411

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1553917304

2 SubmittersRCV000670452 RCV002532101

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

SNV
Germline

Chr4:1002946

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553917428

2 SubmittersRCV000668513 RCV000807158

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

SNV
Unknown

Chr4:1003471

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_1434521185

1 SubmittersRCV000669579

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

SNV
Germline

Chr4:1004258

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553917733

2 SubmittersRCV000671680 RCV001378536

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

SNV
Germline

Chr4:1004259

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_745915863

4 SubmittersRCV000668161 RCV001051181 RCV003144471

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

SNV
Germline

Chr4:1004285

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_746936485

2 SubmittersRCV000670523 RCV003591769

NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)

SNV
Germline

Chr4:1004329

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_886043347

4 SubmittersRCV000672407 RCV001380047 RCV002499181

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

SNV
Germline

Chr4:1000609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1226056948

3 SubmittersRCV000012701 RCV000666654 RCV001043397

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

SNV
Germline

Chr4:1000698

Pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_780615798

4 SubmittersRCV000667145 RCV000675601 RCV001387753

NM_000203.5(IDUA):c.300-1G>A

SNV
Unknown

Chr4:1000611

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_1553916890

1 SubmittersRCV000673460

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

SNV
Unknown

Chr4:1001467

Pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_794727701

1 SubmittersRCV000674145

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

SNV
Germline

Chr4:1001564

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1293215555

2 SubmittersRCV000674301 RCV001861838

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

SNV
Germline

Chr4:1001981

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_762779421

4 SubmittersRCV000673620 RCV001065448 RCV001784285

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

SNV
Germline

Chr4:1001695

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1033313360

5 SubmittersRCV000667572 RCV001389275

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

SNV
Germline

Chr4:1001712

Pathogenic/Likely pathogenic

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1430681871

4 SubmittersRCV000670254 RCV001784262 RCV001855539

NM_000203.5(IDUA):c.1190-2A>T

SNV
Germline

Chr4:1002730

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_994902207

3 SubmittersRCV000672521 RCV002493112 RCV003754884

NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)

SNV
Germline

Chr4:1001846

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_546933529

6 SubmittersRCV000669801 RCV000916227 RCV001375507 RCV001265722 RCV003133497

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

SNV
Germline

Chr4:1002009

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553917192

2 SubmittersRCV000668628 RCV001855504

NM_000203.5(IDUA):c.1650+2C>G

SNV
Unknown

Chr4:1003472

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_1553917580

1 SubmittersRCV000672611

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

SNV
Germline

Chr4:1003606

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_1553917627

2 SubmittersRCV000666323 RCV002530678

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

SNV
Germline

Chr4:1004027

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_776787370

5 SubmittersRCV000665761 RCV001214746 RCV001662734

NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)

SNV
Germline

Chr4:1002383

Conflicting classifications of pathogenicity

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_750496798

3 SubmittersRCV000673313 RCV001784281 RCV001868270

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

SNV
Germline

Chr4:1004113

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_919151683

2 SubmittersRCV000672546 RCV002532127

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

SNV
Germline

Chr4:1004313

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_756572099

6 SubmittersRCV000665162 RCV001210649 RCV003488787

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

SNV
Germline

Chr4:1002444

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_754949360

4 SubmittersRCV000674420 RCV001233076 RCV001784294

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

SNV
Germline

Chr4:1002459

Conflicting classifications of pathogenicity

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_794727896

3 SubmittersRCV000674913 RCV001855616 RCV003129987

NM_000203.5(IDUA):c.1189+5G>A

SNV
Germline

Chr4:1002490

Conflicting classifications of pathogenicity

Hurler syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1553917318

2 SubmittersRCV000667005 RCV001784243

NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)

SNV
Germline

Chr4:1002748

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_991612107

3 SubmittersRCV000671009 RCV003591770

NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)

SNV
Germline

Chr4:1003120

Conflicting classifications of pathogenicity

Hurler syndrome
Condition: not provided
Mucopolysaccharidosis type 1

Criteria Provided
Conflicting Classifications

rs_772416503

4 SubmittersRCV000666799 RCV001756126 RCV002530697

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

SNV
Unknown

Chr4:1003158

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_1553917483

1 SubmittersRCV000670935

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

SNV
Germline

Chr4:1004010

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553917699

3 SubmittersRCV000673922 RCV001247821 RCV001784289

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

SNV
Germline

Chr4:987085

Pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553914737

3 SubmittersRCV000665207 RCV001390269

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

SNV
Germline

Chr4:987087

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553914740

2 SubmittersRCV000673251 RCV003323676

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

SNV
Germline

Chr4:987808

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553914935

2 SubmittersRCV000672729 RCV003768000

NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)

SNV
Germline

Chr4:987877

Conflicting classifications of pathogenicity

Hurler syndrome
not specified
Mucopolysaccharidosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780165694

4 SubmittersRCV000667992 RCV002222591 RCV002532065 RCV003133494

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

SNV
Germline

Chr4:987915

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_754966840

5 SubmittersRCV000703774 RCV001784344 RCV002485752

NM_000203.5(IDUA):c.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

rs_931627770

4 SubmittersRCV001062380 RCV001784619 RCV002482062

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

rs_1456090810

3 SubmittersRCV001193755 RCV002497675

NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)

SNV
Germline

Chr5:135029312

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_1752408637

1 SubmittersRCV001201163

NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)

SNV
Germline

Chr4:1001499

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_776305028

3 SubmittersRCV001264189 RCV001335171 RCV001880075

NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)

SNV
Germline

Chr4:1002084

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1715120049

4 SubmittersRCV001269274 RCV002275339

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

SNV
Germline

Chr4:1004314

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_200448421

4 SubmittersRCV001374701 RCV001780270 RCV001865868 RCV003229620

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

SNV
Germline

Chr4:987837

Pathogenic

Mucopolysaccharidosis type 1
Hurler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2153015621

2 SubmittersRCV001390270 RCV003238366

NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp)

SNV
Germline

Chr4:1004320

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_2153023301

1 SubmittersRCV001806437

NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)

SNV
Germline

Chr4:1004299

Pathogenic/Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1
Familial hypokalemia-hypomagnesemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2153023287

4 SubmittersRCV001824223 RCV001869832 RCV004542135

NM_000203.5(IDUA):c.362T>C (p.Leu121Pro)

SNV
Germline

Chr4:1000674

Likely pathogenic

Hurler syndrome

No Assertion Criteria Provided

rs_2153021634

1 SubmittersRCV001843996

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

SNV
Germline

Chr4:1001563

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_2153021926

1 SubmittersRCV002052114

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

SNV
Germline

Chr4:1001564

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

rs_1293215555

1 SubmittersRCV002052213

NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)

SNV
Germline

Chr4:1002145

Likely pathogenic

Hurler syndrome
Mucopolysaccharidosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_781534097

2 SubmittersRCV002249078 RCV003101337

NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)

SNV
Germline

Chr4:1000685

Likely pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003338925

NM_000203.5(IDUA):c.1759C>T (p.Gln587Ter)

SNV
Germline

Chr4:1004043

Pathogenic

IDUA-related disorder
Hurler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003412415 RCV003991057

NM_000203.5(IDUA):c.530T>G (p.Phe177Cys)

SNV
Germline

Chr4:1001504

Pathogenic

Hurler syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004437809