ClinVar for MedGen (Select 44171) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802071.	NM_000203.5(IDUA):c.494-43C>T GRCh37: Chr4:995213 GRCh38: Chr4:1001425	IDUA		Mucopolysaccharidosis type 1	Uncertain significance (Apr 11, 2023)	criteria provided, single submitter
Select item 24225832.	NC_000004.11:g.(?_980871)_(985491_?)dup GRCh37: Chr4:980871-985491	IDUA, SLC26A1		Mucopolysaccharidosis type 1	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 24225823.	NC_000004.11:g.(?_980871)_(981050_?)dup GRCh37: Chr4:980871-981050	IDUA, SLC26A1		Mucopolysaccharidosis type 1	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 24225814.	NC_000004.11:g.(?_980775)_(981040_?)del GRCh37: Chr4:980775-981040	IDUA, SLC26A1		Mucopolysaccharidosis type 1	Pathogenic (Aug 7, 2022)	criteria provided, single submitter
Select item 24189265.	NM_000203.5(IDUA):c.1190-12_1190-11insA GRCh37: Chr4:996508-996509 GRCh38: Chr4:1002720-1002721	IDUA		Mucopolysaccharidosis type 1	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 24188686.	NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser) GRCh37: Chr4:997169 GRCh38: Chr4:1003381	IDUA	G389S, G521S	Mucopolysaccharidosis type 1	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 24174117.	NM_000203.5(IDUA):c.958G>A (p.Ala320Thr) GRCh37: Chr4:995935 GRCh38: Chr4:1002147	IDUA	A188T, A320T	Mucopolysaccharidosis type 1	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 24158688.	NM_000203.5(IDUA):c.718C>T (p.His240Tyr) GRCh37: Chr4:995595 GRCh38: Chr4:1001807	IDUA	H108Y, H240Y	Mucopolysaccharidosis type 1	Likely pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 24156399.	NM_000203.5(IDUA):c.1690C>T (p.Leu564=) GRCh37: Chr4:997376 GRCh38: Chr4:1003588	IDUA		Mucopolysaccharidosis type 1	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 241430910.	NM_000203.5(IDUA):c.269C>T (p.Thr90Ile) GRCh37: Chr4:981707 GRCh38: Chr4:987919	IDUA, SLC26A1	T90I	Mucopolysaccharidosis type 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 241404311.	NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg) GRCh37: Chr4:996193 GRCh38: Chr4:1002405	IDUA	Q238R, Q370R	Inborn genetic diseases, Mucopolysaccharidosis type 1	Uncertain significance (Mar 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241400512.	NM_000203.5(IDUA):c.1016C>T (p.Ser339Phe) GRCh37: Chr4:996100 GRCh38: Chr4:1002312	IDUA	S207F, S339F	Mucopolysaccharidosis type 1	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 241356613.	NM_000203.5(IDUA):c.159-17C>T GRCh37: Chr4:981580 GRCh38: Chr4:987792	IDUA, SLC26A1		Mucopolysaccharidosis type 1	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 220359014.	NM_000203.5(IDUA):c.932C>G (p.Pro311Arg) GRCh37: Chr4:995909 GRCh38: Chr4:1002121	IDUA	P179R, P311R	Inborn genetic diseases, Mucopolysaccharidosis type 1, not provided	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220349915.	NM_000203.5(IDUA):c.1727+6T>A GRCh37: Chr4:997419 GRCh38: Chr4:1003631	IDUA		Mucopolysaccharidosis type 1	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 220349816.	NM_000203.5(IDUA):c.1587_1588dup (p.Leu530fs) GRCh37: Chr4:997191-997192 GRCh38: Chr4:1003403-1003404	IDUA	L530fs, L398fs	Mucopolysaccharidosis type 1	Pathogenic (Dec 12, 2021)	criteria provided, single submitter
Select item 220349717.	NM_000203.5(IDUA):c.917G>T (p.Trp306Leu) GRCh37: Chr4:995894 GRCh38: Chr4:1002106	IDUA	W174L, W306L	Mucopolysaccharidosis type 1	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 220349618.	NM_000203.5(IDUA):c.794G>A (p.Gly265Asp) GRCh37: Chr4:995771 GRCh38: Chr4:1001983	IDUA	G133D, G265D	not provided, Mucopolysaccharidosis type 1	Uncertain significance (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220349519.	NM_000203.5(IDUA):c.532G>A (p.Glu178Lys) GRCh37: Chr4:995294 GRCh38: Chr4:1001506	IDUA	E46K, E178K	not provided, Mucopolysaccharidosis type 1	Pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220349420.	NM_000203.5(IDUA):c.251G>C (p.Gly84Ala) GRCh37: Chr4:981689 GRCh38: Chr4:987901	IDUA, SLC26A1	G84A	Mucopolysaccharidosis type 1, not provided	Uncertain significance (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220257121.	NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg) GRCh37: Chr4:997158 GRCh38: Chr4:1003370	IDUA	P385R, P517R	Mucopolysaccharidosis type 1, Inborn genetic diseases	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220222022.	NM_000203.5(IDUA):c.1950G>A (p.Pro650=) GRCh37: Chr4:998169 GRCh38: Chr4:1004381	IDUA		Mucopolysaccharidosis type 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 220188223.	NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser) GRCh37: Chr4:997205 GRCh38: Chr4:1003417	IDUA	P401S, P533S	not provided, Mucopolysaccharidosis type 1	Conflicting interpretations of pathogenicity (Dec 20, 2022)	criteria provided, conflicting interpretations
Select item 219999024.	NM_000203.5(IDUA):c.1189+16T>C GRCh37: Chr4:996289 GRCh38: Chr4:1002501	IDUA		Mucopolysaccharidosis type 1	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 219909225.	NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn) GRCh37: Chr4:996660 GRCh38: Chr4:1002872	IDUA	D312N, D444N	Mucopolysaccharidosis type 1, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 219844026.	NM_000203.5(IDUA):c.544G>A (p.Glu182Lys) GRCh37: Chr4:995306 GRCh38: Chr4:1001518	IDUA	E50K, E182K	Mucopolysaccharidosis type 1	Likely pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 219811527.	NM_000203.5(IDUA):c.1946C>T (p.Ser649Phe) GRCh37: Chr4:998165 GRCh38: Chr4:1004377	IDUA	S517F, S649F	Mucopolysaccharidosis type 1	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 219803328.	NM_000203.5(IDUA):c.793-2A>G GRCh37: Chr4:995768 GRCh38: Chr4:1001980	IDUA		Mucopolysaccharidosis type 1	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 219765729.	NM_000203.5(IDUA):c.1007A>C (p.Asn336Thr) GRCh37: Chr4:996091 GRCh38: Chr4:1002303	IDUA	N204T, N336T	Inborn genetic diseases, Mucopolysaccharidosis type 1	Uncertain significance (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219683330.	NM_000203.5(IDUA):c.1402+5G>A GRCh37: Chr4:996737 GRCh38: Chr4:1002949	IDUA		Mucopolysaccharidosis type 1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219667431.	NM_000203.5(IDUA):c.553C>G (p.His185Asp) GRCh37: Chr4:995315 GRCh38: Chr4:1001527	IDUA	H185D, H53D	Mucopolysaccharidosis type 1	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 219648332.	NM_000203.5(IDUA):c.356A>C (p.Asp119Ala) GRCh37: Chr4:994456 GRCh38: Chr4:1000668	IDUA	D119A	Mucopolysaccharidosis type 1, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219633233.	NM_000203.5(IDUA):c.158+11C>T GRCh37: Chr4:981041 GRCh38: Chr4:987253	IDUA, SLC26A1		Mucopolysaccharidosis type 1	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 219593334.	NM_000203.5(IDUA):c.1525-16C>T GRCh37: Chr4:997117 GRCh38: Chr4:1003329	IDUA		Mucopolysaccharidosis type 1	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 219592535.	NM_000203.5(IDUA):c.300-13C>T GRCh37: Chr4:994387 GRCh38: Chr4:1000599	IDUA		Mucopolysaccharidosis type 1	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 219570136.	NM_000203.5(IDUA):c.1153C>T (p.Pro385Ser) GRCh37: Chr4:996237 GRCh38: Chr4:1002449	IDUA	P385S, P253S	Mucopolysaccharidosis type 1	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 219498537.	NM_000203.5(IDUA):c.741C>A (p.Phe247Leu) GRCh37: Chr4:995618 GRCh38: Chr4:1001830	IDUA	F115L, F247L	Mucopolysaccharidosis type 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219418038.	NM_000203.5(IDUA):c.630del (p.Ala211fs) GRCh37: Chr4:995507 GRCh38: Chr4:1001719	IDUA	A79fs, A211fs	Mucopolysaccharidosis type 1	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 219416939.	NM_000203.5(IDUA):c.612C>G (p.Ala204=) GRCh37: Chr4:995489 GRCh38: Chr4:1001701	IDUA		Mucopolysaccharidosis type 1	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 219381540.	NM_000203.5(IDUA):c.920C>T (p.Ser307Phe) GRCh37: Chr4:995897 GRCh38: Chr4:1002109	IDUA	S307F, S175F	not provided, Mucopolysaccharidosis type 1	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219371341.	NM_000203.5(IDUA):c.793-9C>A GRCh37: Chr4:995761 GRCh38: Chr4:1001973	IDUA		not provided, Mucopolysaccharidosis type 1	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219200242.	NM_000203.5(IDUA):c.1799C>G (p.Ser600Trp) GRCh37: Chr4:997871 GRCh38: Chr4:1004083	IDUA	S468W, S600W	Mucopolysaccharidosis type 1	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 218956343.	NM_000203.5(IDUA):c.629G>A (p.Arg210His) GRCh37: Chr4:995506 GRCh38: Chr4:1001718	IDUA	R210H, R78H	not provided, Mucopolysaccharidosis type 1	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218940844.	NM_000203.5(IDUA):c.623G>C (p.Gly208Ala) GRCh37: Chr4:995500 GRCh38: Chr4:1001712	IDUA	G76A, G208A	Mucopolysaccharidosis type 1	Likely pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 218871845.	NM_000203.5(IDUA):c.1669C>T (p.Leu557=) GRCh37: Chr4:997355 GRCh38: Chr4:1003567	IDUA		Mucopolysaccharidosis type 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 218467746.	NM_000203.5(IDUA):c.1183CTG[1] (p.Leu396del) GRCh37: Chr4:996266-996268 GRCh38: Chr4:1002478-1002480	IDUA	L396del, L264del	Mucopolysaccharidosis type 1	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 218462047.	NM_000203.5(IDUA):c.613T>G (p.Cys205Gly) GRCh37: Chr4:995490 GRCh38: Chr4:1001702	IDUA	C205G, C73G	Mucopolysaccharidosis type 1	Likely pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 218277348.	NM_000203.5(IDUA):c.1936G>C (p.Gly646Arg) GRCh37: Chr4:998155 GRCh38: Chr4:1004367	IDUA	G514R, G646R	Mucopolysaccharidosis type 1	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 218124649.	NM_000203.5(IDUA):c.1190-11C>A GRCh37: Chr4:996509 GRCh38: Chr4:1002721	IDUA		Mucopolysaccharidosis type 1	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 218070050.	NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys) GRCh37: Chr4:996928 GRCh38: Chr4:1003140	IDUA	R371C, R503C	Mucopolysaccharidosis type 1, not provided	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217854451.	NM_000203.5(IDUA):c.1402+18G>A GRCh37: Chr4:996750 GRCh38: Chr4:1002962	IDUA		Mucopolysaccharidosis type 1	Likely benign (Feb 26, 2022)	criteria provided, single submitter
Select item 217378252.	NM_000203.5(IDUA):c.1829-18_1829-17del GRCh37: Chr4:998030-998031 GRCh38: Chr4:1004242-1004243	IDUA		Mucopolysaccharidosis type 1	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 217130853.	NM_000203.5(IDUA):c.61C>A (p.Pro21Thr) GRCh37: Chr4:980933 GRCh38: Chr4:987145	IDUA, SLC26A1	P21T	Mucopolysaccharidosis type 1	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 216978754.	NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla) GRCh37: Chr4:980906-980907 GRCh38: Chr4:987118-987119	IDUA, SLC26A1		Mucopolysaccharidosis type 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 216774155.	NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met) GRCh37: Chr4:980897-980898 GRCh38: Chr4:987109-987110	IDUA, SLC26A1	A9M	Mucopolysaccharidosis type 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216663756.	NM_000203.5(IDUA):c.569A>G (p.Asn190Ser) GRCh37: Chr4:995331 GRCh38: Chr4:1001543	IDUA	N190S, N58S	Mucopolysaccharidosis type 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 216608257.	NM_000203.5(IDUA):c.1666G>A (p.Ala556Thr) GRCh37: Chr4:997352 GRCh38: Chr4:1003564	IDUA	A424T, A556T	Mucopolysaccharidosis type 1	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 216600158.	NM_000203.5(IDUA):c.179A>G (p.Gln60Arg) GRCh37: Chr4:981617 GRCh38: Chr4:987829	IDUA, SLC26A1	Q60R	Mucopolysaccharidosis type 1, Inborn genetic diseases	Uncertain significance (Jul 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216552859.	NM_000203.5(IDUA):c.1828+4C>T GRCh37: Chr4:997904 GRCh38: Chr4:1004116	IDUA		Mucopolysaccharidosis type 1	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 216419360.	NM_000203.5(IDUA):c.1677G>C (p.Leu559=) GRCh37: Chr4:997363 GRCh38: Chr4:1003575	IDUA		Mucopolysaccharidosis type 1	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 216352661.	NM_000203.5(IDUA):c.512A>G (p.His171Arg) GRCh37: Chr4:995274 GRCh38: Chr4:1001486	IDUA	H171R, H39R	Mucopolysaccharidosis type 1	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 216289462.	NM_000203.5(IDUA):c.955G>A (p.Ala319Thr) GRCh37: Chr4:995932 GRCh38: Chr4:1002144	IDUA	A187T, A319T	Mucopolysaccharidosis type 1, not provided	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 216241963.	NM_000203.5(IDUA):c.1478C>T (p.Pro493Leu) GRCh37: Chr4:996899 GRCh38: Chr4:1003111	IDUA	P493L, P361L	Mucopolysaccharidosis type 1	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 216232464.	NM_000203.5(IDUA):c.1258G>T (p.Val420Phe) GRCh37: Chr4:996588 GRCh38: Chr4:1002800	IDUA	V288F, V420F	Mucopolysaccharidosis type 1	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 216075465.	NM_000203.5(IDUA):c.159-20C>T GRCh37: Chr4:981577 GRCh38: Chr4:987789	IDUA, SLC26A1		Mucopolysaccharidosis type 1	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 216071766.	NM_000203.5(IDUA):c.1391C>T (p.Pro464Leu) GRCh37: Chr4:996721 GRCh38: Chr4:1002933	IDUA	P464L, P332L	Mucopolysaccharidosis type 1	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 216041867.	NM_000203.5(IDUA):c.1727+17G>T GRCh37: Chr4:997430 GRCh38: Chr4:1003642	IDUA		Mucopolysaccharidosis type 1	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 215917568.	NM_000203.5(IDUA):c.972+10C>T GRCh37: Chr4:995959 GRCh38: Chr4:1002171	IDUA		Mucopolysaccharidosis type 1	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 215845269.	NM_000203.5(IDUA):c.1498C>G (p.Gln500Glu) GRCh37: Chr4:996919 GRCh38: Chr4:1003131	IDUA	Q368E, Q500E	Mucopolysaccharidosis type 1	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 215800370.	NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu) GRCh37: Chr4:996906 GRCh38: Chr4:1003118	IDUA	F363L, F495L	not provided, Mucopolysaccharidosis type 1	Uncertain significance (Jan 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215781471.	NM_000203.5(IDUA):c.1403-18G>A GRCh37: Chr4:996806 GRCh38: Chr4:1003018	IDUA		Mucopolysaccharidosis type 1	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 215762772.	NM_000203.5(IDUA):c.494-4G>C GRCh37: Chr4:995252 GRCh38: Chr4:1001464	IDUA		Mucopolysaccharidosis type 1	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 215752073.	NM_000203.5(IDUA):c.556C>T (p.His186Tyr) GRCh37: Chr4:995318 GRCh38: Chr4:1001530	IDUA	H54Y, H186Y	Mucopolysaccharidosis type 1	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 215698074.	NM_000203.5(IDUA):c.313C>T (p.Arg105Trp) GRCh37: Chr4:994413 GRCh38: Chr4:1000625	IDUA	R105W	Mucopolysaccharidosis type 1	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 215631575.	NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln) GRCh37: Chr4:998081 GRCh38: Chr4:1004293	IDUA	R489Q, R621Q	Mucopolysaccharidosis type 1, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215620776.	NM_000203.5(IDUA):c.1650+13C>A GRCh37: Chr4:997271 GRCh38: Chr4:1003483	IDUA		Mucopolysaccharidosis type 1	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 215576377.	NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser) GRCh37: Chr4:980932-980933 GRCh38: Chr4:987144-987145	IDUA, SLC26A1	P21S	Mucopolysaccharidosis type 1	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215571178.	NM_000203.5(IDUA):c.1829-1G>C GRCh37: Chr4:998047 GRCh38: Chr4:1004259	IDUA		Mucopolysaccharidosis type 1	Likely pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 215552079.	NM_000203.5(IDUA):c.314G>C (p.Arg105Pro) GRCh37: Chr4:994414 GRCh38: Chr4:1000626	IDUA	R105P	Mucopolysaccharidosis type 1	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 215367480.	NM_000203.5(IDUA):c.1651-15C>A GRCh37: Chr4:997322 GRCh38: Chr4:1003534	IDUA		Mucopolysaccharidosis type 1	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 215269181.	NM_000203.5(IDUA):c.86C>G (p.Pro29Arg) GRCh37: Chr4:980958 GRCh38: Chr4:987170	IDUA, SLC26A1	P29R	Mucopolysaccharidosis type 1, Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215248382.	NM_000203.5(IDUA):c.670T>C (p.Ser224Pro) GRCh37: Chr4:995547 GRCh38: Chr4:1001759	IDUA	S92P, S224P	Mucopolysaccharidosis type 1, not provided	Uncertain significance (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215245183.	NM_000203.5(IDUA):c.1033C>T (p.Leu345Phe) GRCh37: Chr4:996117 GRCh38: Chr4:1002329	IDUA	L345F, L213F	Mucopolysaccharidosis type 1	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 215241984.	NM_000203.5(IDUA):c.1592G>A (p.Arg531Gln) GRCh37: Chr4:997200 GRCh38: Chr4:1003412	IDUA	R531Q, R399Q	Mucopolysaccharidosis type 1	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 215240485.	NM_000203.5(IDUA):c.1140G>T (p.Gln380His) GRCh37: Chr4:996224 GRCh38: Chr4:1002436	IDUA	Q248H, Q380H	Mucopolysaccharidosis type 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 215198386.	NM_000203.5(IDUA):c.1664G>A (p.Arg555His) GRCh37: Chr4:997350 GRCh38: Chr4:1003562	IDUA	R423H, R555H	Mucopolysaccharidosis type 1, not provided	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215006487.	NM_000203.5(IDUA):c.792+13C>T GRCh37: Chr4:995682 GRCh38: Chr4:1001894	IDUA		Mucopolysaccharidosis type 1	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 214963988.	NM_000203.5(IDUA):c.1942C>T (p.Pro648Ser) GRCh37: Chr4:998161 GRCh38: Chr4:1004373	IDUA	P516S, P648S	Mucopolysaccharidosis type 1	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 214842389.	NM_000203.5(IDUA):c.143G>A (p.Arg48Lys) GRCh37: Chr4:981015 GRCh38: Chr4:987227	IDUA, SLC26A1	R48K	Mucopolysaccharidosis type 1	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 214789190.	NM_000203.5(IDUA):c.1707G>A (p.Ser569=) GRCh37: Chr4:997393 GRCh38: Chr4:1003605	IDUA		Mucopolysaccharidosis type 1	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 214785891.	NM_000203.5(IDUA):c.1189+17G>A GRCh37: Chr4:996290 GRCh38: Chr4:1002502	IDUA		Mucopolysaccharidosis type 1	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 214727492.	NM_000203.5(IDUA):c.1190-17C>T GRCh37: Chr4:996503 GRCh38: Chr4:1002715	IDUA		Mucopolysaccharidosis type 1	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 214582993.	NM_000203.5(IDUA):c.613T>A (p.Cys205Ser) GRCh37: Chr4:995490 GRCh38: Chr4:1001702	IDUA	C205S, C73S	Mucopolysaccharidosis type 1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214581194.	NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly) GRCh37: Chr4:996661 GRCh38: Chr4:1002873	IDUA	D444G, D312G	not provided, Inborn genetic diseases, Mucopolysaccharidosis type 1	Uncertain significance (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214505995.	NM_000203.5(IDUA):c.74C>T (p.Pro25Leu) GRCh37: Chr4:980946 GRCh38: Chr4:987158	IDUA, SLC26A1	P25L	Mucopolysaccharidosis type 1	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 214479896.	NM_000203.5(IDUA):c.316G>C (p.Gly106Arg) GRCh37: Chr4:994416 GRCh38: Chr4:1000628	IDUA	G106R	Mucopolysaccharidosis type 1	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214421297.	NM_000203.5(IDUA):c.8C>A (p.Pro3His) GRCh37: Chr4:980880 GRCh38: Chr4:987092	IDUA, SLC26A1	P3H	Mucopolysaccharidosis type 1	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 214281198.	NM_000203.5(IDUA):c.1955A>G (p.Asn652Ser) GRCh37: Chr4:998174 GRCh38: Chr4:1004386	IDUA	N652S, N520S	Mucopolysaccharidosis type 1	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 214276599.	NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del) GRCh37: Chr4:994424-994429 GRCh38: Chr4:1000636-1000641	IDUA		Mucopolysaccharidosis type 1	Pathogenic/Likely pathogenic (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2141597100.	NM_000203.5(IDUA):c.735C>T (p.Thr245=) GRCh37: Chr4:995612 GRCh38: Chr4:1001824	IDUA		Mucopolysaccharidosis type 1	Likely benign (Dec 27, 2021)	criteria provided, single submitter

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