ClinVar for MedGen (Select 39698) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25070231.	NM_000203.5(IDUA):c.300-4092_300-2318del GRCh37: Chr4:990308-992082 GRCh38: Chr4:996520-998294	IDUA		Hurler syndrome	Pathogenic (Feb 10, 2023)	criteria provided, single submitter
Select item 24983862.	NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del) GRCh37: Chr4:996522-996524 GRCh38: Chr4:1002734-1002736	IDUA	E267del, E399del	Hurler syndrome	Likely pathogenic (Apr 18, 2023)	criteria provided, single submitter
Select item 16853513.	NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) GRCh37: Chr4:995933 GRCh38: Chr4:1002145	IDUA	A187E, A319E	Mucopolysaccharidosis type 1, Hurler syndrome	Likely pathogenic (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16793364.	NM_000203.5(IDUA):c.718C>A (p.His240Asn) GRCh37: Chr4:995595 GRCh38: Chr4:1001807	IDUA	H108N, H240N	Hurler syndrome	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 15261935.	NM_000203.5(IDUA):c.589+1G>T GRCh37: Chr4:995352 GRCh38: Chr4:1001564	IDUA		Hurler syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 15260946.	NM_000203.5(IDUA):c.589G>A (p.Gly197Ser) GRCh37: Chr4:995351 GRCh38: Chr4:1001563	IDUA	G197S, G65S	Hurler syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 14408377.	NM_000203.5(IDUA):c.90C>G (p.His30Gln) GRCh37: Chr4:980962 GRCh38: Chr4:987174	IDUA, SLC26A1	H30Q	Mucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14383718.	NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) GRCh37: Chr4:980984 GRCh38: Chr4:987196	IDUA, SLC26A1	R38C	Mucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14305479.	NM_000203.5(IDUA):c.600C>G (p.Asn200Lys) GRCh37: Chr4:995477 GRCh38: Chr4:1001689	IDUA	N68K, N200K	Mucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134969010.	NM_000203.5(IDUA):c.340C>A (p.Leu114Met) GRCh37: Chr4:994440 GRCh38: Chr4:1000652	IDUA	L114M	Mucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134338211.	NM_000203.5(IDUA):c.362T>C (p.Leu121Pro) GRCh37: Chr4:994462 GRCh38: Chr4:1000674	IDUA	L121P	Hurler syndrome	Likely pathogenic	no assertion criteria provided
Select item 133951512.	NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs) GRCh37: Chr4:996915-996916 GRCh38: Chr4:1003127-1003128	IDUA	E367fs, E499fs	Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133951413.	NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) GRCh37: Chr4:998087 GRCh38: Chr4:1004299	IDUA	L491P, L623P	Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic/Likely pathogenic (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133286314.	NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp) GRCh37: Chr4:998108 GRCh38: Chr4:1004320	IDUA	G498D, G630D	Hurler syndrome	Likely pathogenic	criteria provided, single submitter
Select item 118553015.	NM_000203.5(IDUA):c.299+3990A>G GRCh37: Chr4:985727 GRCh38: Chr4:991939	IDUA, SLC26A1		not provided, Hurler syndrome, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis, MPS-I-H/S	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118522216.	NM_000203.5(IDUA):c.1727+72T>G GRCh37: Chr4:997485 GRCh38: Chr4:1003697	IDUA		not provided, Mucopolysaccharidosis, MPS-I-H/S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-S	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107637817.	NM_000203.5(IDUA):c.187C>T (p.Gln63Ter) GRCh37: Chr4:981625 GRCh38: Chr4:987837	IDUA, SLC26A1	Q63*	Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic (Jun 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106552218.	NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs) GRCh37: Chr4:996180-996183 GRCh38: Chr4:1002392-1002395	IDUA	T234fs, T366fs	Hurler syndrome	Pathogenic (Feb 13, 2021)	criteria provided, single submitter
Select item 106467519.	NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) GRCh37: Chr4:998102 GRCh38: Chr4:1004314	IDUA	R496P, R628P	Hurler syndrome, Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis type 1, not provided	Pathogenic/Likely pathogenic (May 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103225320.	NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr) GRCh37: Chr4:996898 GRCh38: Chr4:1003110	IDUA	P361T, P493T	Hurler syndrome	Uncertain significance (Dec 27, 2018)	criteria provided, single submitter
Select item 98787821.	NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) GRCh37: Chr4:995872 GRCh38: Chr4:1002084	IDUA	E167, E299	Hurler syndrome, Mucopolysaccharidosis type 1	Pathogenic (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98418022.	NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) GRCh37: Chr4:995287 GRCh38: Chr4:1001499	IDUA	W175, W43	Hurler syndrome, Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-H/S	Pathogenic/Likely pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98279723.	NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr) GRCh37: Chr4:996537 GRCh38: Chr4:1002749	IDUA	A271T, A403T	Hurler syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97148624.	NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) GRCh37: Chr4:995256 GRCh38: Chr4:1001468	IDUA	G165D, G33D	Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95689025.	NM_000203.5(IDUA):c.784del (p.His262fs) GRCh37: Chr4:995660 GRCh38: Chr4:1001872	IDUA	H262fs, H130fs	Hurler syndrome, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis type 1, not provided	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93313426.	NM_002653.5(PITX1):c.412A>C (p.Lys138Gln) GRCh37: Chr5:134365002 GRCh38: Chr5:135029312	PITX1	K138Q	Hurler syndrome	Likely pathogenic (Jun 20, 2020)	criteria provided, single submitter
Select item 92899727.	NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) GRCh37: Chr4:998096 GRCh38: Chr4:1004308	IDUA	W494, W626	Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S	Pathogenic (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90467328.	NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr) GRCh37: Chr4:996600 GRCh38: Chr4:1002812	IDUA	A292T, A424T	Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86383029.	NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) GRCh37: Chr4:994681-994686 GRCh38: Chr4:1000893-1000898	IDUA		Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic/Likely pathogenic (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85683330.	NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) GRCh37: Chr4:996599 GRCh38: Chr4:1002811	IDUA	S423R, S291R	not provided, Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85168331.	NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) GRCh37: Chr4:996899 GRCh38: Chr4:1003111	IDUA	P361R, P493R	not provided, Inborn genetic diseases, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis type 1	Uncertain significance (Nov 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82809432.	NM_000203.5(IDUA):c.1163del (p.Thr388fs) GRCh37: Chr4:996247 GRCh38: Chr4:1002459	IDUA	T388fs, T256fs	Hurler syndrome	Pathogenic (May 20, 2019)	no assertion criteria provided
Select item 80204633.	NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) GRCh37: Chr4:996580 GRCh38: Chr4:1002792	IDUA	T285K, T417K	Hurler syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 63327134.	NM_000203.5(IDUA):c.1349C>A (p.Pro450His) GRCh37: Chr4:996679 GRCh38: Chr4:1002891	IDUA	P450H, P318H	Mucopolysaccharidosis type 1, not specified, Hurler syndrome	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62313935.	NM_000203.5(IDUA):c.390del (p.Phe130fs) GRCh37: Chr4:994672 GRCh38: Chr4:1000884	IDUA	F130fs	Hurler syndrome	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 58028636.	NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) GRCh37: Chr4:981703 GRCh38: Chr4:987915	SLC26A1, IDUA	R89W	Mucopolysaccharidosis type 1, not provided, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S	Pathogenic/Likely pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55861537.	NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) GRCh37: Chr4:996247 GRCh38: Chr4:1002459	IDUA	T388M, T256M	Hurler syndrome, Mucopolysaccharidosis type 1, not provided	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 55861438.	NM_000203.5(IDUA):c.1161C>T (p.Leu387=) GRCh37: Chr4:996245 GRCh38: Chr4:1002457	IDUA		Hurler syndrome, Mucopolysaccharidosis type 1	Likely benign (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55847739.	NM_000203.5(IDUA):c.542dup (p.Asn181fs) GRCh37: Chr4:995302-995303 GRCh38: Chr4:1001514-1001515	IDUA	N181fs, N49fs	not provided, Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic/Likely pathogenic (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55835940.	NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter) GRCh37: Chr4:998137 GRCh38: Chr4:1004349	IDUA	E640, E508	Hurler syndrome	Uncertain significance (May 21, 2018)	criteria provided, single submitter
Select item 55831641.	NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) GRCh37: Chr4:995862-995863 GRCh38: Chr4:1002074-1002075	IDUA		Hurler syndrome	Uncertain significance (May 14, 2018)	criteria provided, single submitter
Select item 55818942.	NM_000203.5(IDUA):c.1148G>A (p.Arg383His) GRCh37: Chr4:996232 GRCh38: Chr4:1002444	IDUA	R383H, R251H	not provided, Hurler syndrome, Mucopolysaccharidosis type 1	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55814343.	NM_000203.5(IDUA):c.493+1G>A GRCh37: Chr4:994778 GRCh38: Chr4:1000990	IDUA		Hurler syndrome	Likely pathogenic (Apr 29, 2018)	criteria provided, single submitter
Select item 55807944.	NM_000203.5(IDUA):c.589+1G>A GRCh37: Chr4:995352 GRCh38: Chr4:1001564	IDUA		Mucopolysaccharidosis type 1, Hurler syndrome	Likely pathogenic (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55802745.	NM_000203.5(IDUA):c.973-4G>A GRCh37: Chr4:996053 GRCh38: Chr4:1002265	IDUA		Hurler syndrome	Uncertain significance (Apr 24, 2018)	criteria provided, single submitter
Select item 55795046.	NM_000203.5(IDUA):c.299+3602del GRCh37: Chr4:985338 GRCh38: Chr4:991550	SLC26A1, IDUA	D52fs	Hurler syndrome	Likely benign (Apr 20, 2018)	criteria provided, single submitter
Select item 55794247.	NM_000203.5(IDUA):c.494-1G>A GRCh37: Chr4:995255 GRCh38: Chr4:1001467	IDUA		Hurler syndrome	Pathogenic (Apr 20, 2018)	criteria provided, single submitter
Select item 55788548.	NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) GRCh37: Chr4:996127-996129 GRCh38: Chr4:1002339-1002341	IDUA	D349del, D217del	not provided, Hurler syndrome, Mucopolysaccharidosis type 1	Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55787049.	NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) GRCh37: Chr4:996128 GRCh38: Chr4:1002340	IDUA	N348K, N216K	not provided, Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic/Likely pathogenic (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55774450.	NM_000203.5(IDUA):c.1728-2A>G GRCh37: Chr4:997798 GRCh38: Chr4:1004010	IDUA		Mucopolysaccharidosis type 1, Hurler syndrome, not provided	Pathogenic/Likely pathogenic (Apr 22, 2020)	criteria provided, multiple submitters, no conflicts
Select item 55762251.	NM_000203.5(IDUA):c.299+3444_299+3445del GRCh37: Chr4:985181-985182 GRCh38: Chr4:991393-991394	IDUA, SLC26A1	T104fs	Hurler syndrome	Likely benign (Apr 3, 2018)	criteria provided, single submitter
Select item 55761652.	NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) GRCh37: Chr4:996556 GRCh38: Chr4:1002768	IDUA	G409E, G277E	Hurler syndrome	Uncertain significance (Apr 3, 2018)	criteria provided, single submitter
Select item 55753753.	NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) GRCh37: Chr4:996604-996605 GRCh38: Chr4:1002816-1002817	IDUA	Q296fs, Q428fs	Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic/Likely pathogenic (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55752854.	NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) GRCh37: Chr4:995508-995509 GRCh38: Chr4:1001720-1001721	IDUA		Mucopolysaccharidosis type 1, not provided, Hurler syndrome	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55747255.	NM_000203.5(IDUA):c.793-1G>A GRCh37: Chr4:995769 GRCh38: Chr4:1001981	IDUA		Mucopolysaccharidosis type 1, not provided, Hurler syndrome	Pathogenic/Likely pathogenic (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55733256.	NM_000203.5(IDUA):c.300-1G>A GRCh37: Chr4:994399 GRCh38: Chr4:1000611	IDUA		Hurler syndrome	Likely pathogenic (Mar 16, 2018)	criteria provided, single submitter
Select item 55726057.	NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) GRCh37: Chr4:996154-996174 GRCh38: Chr4:1002366-1002386	IDUA		Mucopolysaccharidosis type 1, Hurler syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 55720558.	NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) GRCh37: Chr4:996171 GRCh38: Chr4:1002383	IDUA	R363C, R231C	not provided, Mucopolysaccharidosis type 1, Hurler syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 55717559.	NM_000203.5(IDUA):c.299+1078del GRCh37: Chr4:982812 GRCh38: Chr4:989024	IDUA, SLC26A1	A639fs	Hurler syndrome	Likely benign (Mar 12, 2018)	criteria provided, single submitter
Select item 55715060.	NM_000203.5(IDUA):c.3G>A (p.Met1Ile) GRCh37: Chr4:980875 GRCh38: Chr4:987087	IDUA, SLC26A1	M1I	Hurler syndrome, Mucopolysaccharidosis type 1	Likely pathogenic (Jul 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55669061.	NM_000203.5(IDUA):c.159-1G>A GRCh37: Chr4:981596 GRCh38: Chr4:987808	IDUA, SLC26A1		Hurler syndrome	Likely pathogenic (Feb 13, 2018)	criteria provided, single submitter
Select item 55661662.	NM_000203.5(IDUA):c.299+1506del GRCh37: Chr4:983243 GRCh38: Chr4:989455	IDUA, SLC26A1	I495fs	Hurler syndrome	Likely benign (Feb 16, 2018)	criteria provided, single submitter
Select item 55658863.	NM_000203.5(IDUA):c.1650+2C>G GRCh37: Chr4:997260 GRCh38: Chr4:1003472	IDUA		Hurler syndrome	Likely pathogenic (Feb 12, 2018)	criteria provided, single submitter
Select item 55652764.	NM_000203.5(IDUA):c.1828+1G>C GRCh37: Chr4:997901 GRCh38: Chr4:1004113	IDUA		Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic/Likely pathogenic (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55650465.	NM_000203.5(IDUA):c.1190-2A>T GRCh37: Chr4:996518 GRCh38: Chr4:1002730	IDUA		Hurler syndrome, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S	Likely pathogenic (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55640666.	NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) GRCh37: Chr4:998117 GRCh38: Chr4:1004329	IDUA	S633L, S501L	Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Hurler syndrome	Pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55635867.	NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) GRCh37: Chr4:995298 GRCh38: Chr4:1001510	IDUA	T179R, T47R	Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic/Likely pathogenic (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55631468.	NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup) GRCh37: Chr4:995475-995476 GRCh38: Chr4:1001687-1001688	IDUA		Hurler syndrome	Uncertain significance (Jan 24, 2018)	criteria provided, single submitter
Select item 55625369.	NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs) GRCh37: Chr4:998064-998065 GRCh38: Chr4:1004276-1004277	IDUA	G484fs, G616fs	Hurler syndrome	Likely pathogenic (Jan 23, 2018)	criteria provided, single submitter
Select item 55622370.	NM_000203.5(IDUA):c.299+3410_299+3424dup GRCh37: Chr4:985146-985147 GRCh38: Chr4:991358-991359	IDUA, SLC26A1		Hurler syndrome	Likely benign (Jan 19, 2018)	criteria provided, single submitter
Select item 55618471.	NM_000203.5(IDUA):c.1591del (p.Arg531fs) GRCh37: Chr4:997199 GRCh38: Chr4:1003411	IDUA	R399fs, R531fs	Hurler syndrome	Likely pathogenic (Jan 17, 2018)	criteria provided, single submitter
Select item 55615672.	NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del) GRCh37: Chr4:996575-996601 GRCh38: Chr4:1002787-1002813	IDUA		Hurler syndrome	Uncertain significance (Jan 16, 2018)	criteria provided, single submitter
Select item 55610673.	NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) GRCh37: Chr4:996244 GRCh38: Chr4:1002456	IDUA	L387P, L255P	Hurler syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 55602474.	NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) GRCh37: Chr4:996238 GRCh38: Chr4:1002450	IDUA	P385R, P253R	Inborn genetic diseases, not provided, Hurler syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55597975.	NM_000203.5(IDUA):c.299+1087G>A GRCh37: Chr4:982824 GRCh38: Chr4:989036	IDUA, SLC26A1	R635*	Hurler syndrome	Likely benign (Jan 5, 2018)	criteria provided, single submitter
Select item 55594176.	NM_000203.5(IDUA):c.299+1225G>A GRCh37: Chr4:982962 GRCh38: Chr4:989174	IDUA, SLC26A1	Q589*	Hurler syndrome	Likely benign (Jan 4, 2018)	criteria provided, single submitter
Select item 55590877.	NM_000203.5(IDUA):c.299+3566G>T GRCh37: Chr4:985303 GRCh38: Chr4:991515	IDUA, SLC26A1	Y63*	Hurler syndrome	Likely benign (Jan 3, 2018)	criteria provided, single submitter
Select item 55579078.	NM_000203.5(IDUA):c.1829-2A>G GRCh37: Chr4:998046 GRCh38: Chr4:1004258	IDUA		Hurler syndrome, Mucopolysaccharidosis type 1	Likely pathogenic (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55551379.	NM_022042.4(SLC26A1):c.1778del (p.Leu593fs) GRCh37: Chr4:982949 GRCh38: Chr4:989161	IDUA, SLC26A1	L593fs	not provided, Hurler syndrome	Uncertain significance (Apr 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55549080.	NM_000203.5(IDUA):c.1402+1G>A GRCh37: Chr4:996733 GRCh38: Chr4:1002945	IDUA		Hurler syndrome	Likely pathogenic (Dec 6, 2017)	criteria provided, single submitter
Select item 55536781.	NM_000203.5(IDUA):c.299+1089del GRCh37: Chr4:982826 GRCh38: Chr4:989038	SLC26A1, IDUA	R634fs	Hurler syndrome	Likely benign (Dec 11, 2017)	criteria provided, single submitter
Select item 55523082.	NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) GRCh37: Chr4:996536 GRCh38: Chr4:1002748	IDUA	W402, W270	Hurler syndrome	Pathogenic (Jan 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 55516983.	NM_000203.5(IDUA):c.1524+1G>T GRCh37: Chr4:996946 GRCh38: Chr4:1003158	IDUA		Hurler syndrome	Likely pathogenic (Nov 21, 2017)	criteria provided, single submitter
Select item 55483884.	NM_000203.5(IDUA):c.299+1363dup GRCh37: Chr4:983094-983095 GRCh38: Chr4:989306-989307	SLC26A1, IDUA	P545fs	Hurler syndrome	Likely benign (Nov 7, 2017)	criteria provided, single submitter
Select item 55482685.	NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) GRCh37: Chr4:998073 GRCh38: Chr4:1004285	IDUA	Y618, Y486	Hurler syndrome	Pathogenic (Nov 8, 2017)	criteria provided, single submitter
Select item 55479486.	NM_000203.5(IDUA):c.299+1414_299+1415del GRCh37: Chr4:983149-983150 GRCh38: Chr4:989361-989362	SLC26A1, IDUA	T526fs	Hurler syndrome	Likely benign (Nov 3, 2017)	criteria provided, single submitter
Select item 55476587.	NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) GRCh37: Chr4:996199 GRCh38: Chr4:1002411	IDUA	N372S, N240S	Mucopolysaccharidosis type 1, Hurler syndrome	Conflicting interpretations of pathogenicity (Mar 27, 2022)	criteria provided, conflicting interpretations
Select item 55467088.	NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) GRCh37: Chr4:995467 GRCh38: Chr4:1001679	IDUA	G197D, G65D	Hurler syndrome	Uncertain significance (Oct 31, 2017)	criteria provided, single submitter
Select item 55466889.	NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter) GRCh37: Chr4:998133 GRCh38: Chr4:1004345	IDUA	Y638, Y506	Hurler syndrome	Uncertain significance (Oct 31, 2017)	criteria provided, single submitter
Select item 55459390.	NM_000203.5(IDUA):c.1727+4C>T GRCh37: Chr4:997417 GRCh38: Chr4:1003629	IDUA		Hurler syndrome	Uncertain significance (Oct 26, 2017)	criteria provided, single submitter
Select item 55459091.	NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) GRCh37: Chr4:995500 GRCh38: Chr4:1001712	IDUA	G208D, G76D	not provided, Mucopolysaccharidosis type 1, Hurler syndrome	Pathogenic/Likely pathogenic (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55457692.	NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs) GRCh37: Chr4:998048-998049 GRCh38: Chr4:1004260-1004261	IDUA	T611fs, T479fs	Hurler syndrome	Likely pathogenic (Oct 26, 2017)	criteria provided, single submitter
Select item 55447393.	NM_000203.5(IDUA):c.299+1235_299+1261del GRCh37: Chr4:982969-982995 GRCh38: Chr4:989181-989207	IDUA, SLC26A1		Hurler syndrome	Likely benign (Oct 19, 2017)	criteria provided, single submitter
Select item 55447194.	NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) GRCh37: Chr4:996842-996843 GRCh38: Chr4:1003054-1003055	IDUA	Y475fs, Y343fs	Mucopolysaccharidosis type 1, not provided, Hurler syndrome	Pathogenic/Likely pathogenic (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55438095.	NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del) GRCh37: Chr4:996695-996718 GRCh38: Chr4:1002907-1002930	IDUA		Hurler syndrome	Uncertain significance (Oct 17, 2017)	criteria provided, single submitter
Select item 55437396.	NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) GRCh37: Chr4:994771-994772 GRCh38: Chr4:1000983-1000984	IDUA	Y163, Y31	Hurler syndrome	Likely pathogenic (Oct 17, 2017)	criteria provided, single submitter
Select item 55428097.	NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) GRCh37: Chr4:981028 GRCh38: Chr4:987240	IDUA, SLC26A1	F52L	Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Hurler syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55421398.	NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) GRCh37: Chr4:995634 GRCh38: Chr4:1001846	IDUA	G253C, G121C	Mucopolysaccharidosis type 1, not provided, Inborn genetic diseases, Hurler syndrome, not specified	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 55415699.	NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) GRCh37: Chr4:996845-996847 GRCh38: Chr4:1003057-1003059	IDUA	Y475del, Y343del	Hurler syndrome, Mucopolysaccharidosis type 1	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 554028100.	NM_000203.5(IDUA):c.1650+1G>A GRCh37: Chr4:997259 GRCh38: Chr4:1003471	IDUA		Hurler syndrome	Likely pathogenic (Sep 24, 2017)	criteria provided, single submitter

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