ClinVar for MedGen (Select 39698) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382468	NM_000203.5(IDUA):c.159-9T>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hurler syndrome +2 more	GUncertain significance
Select item 3382137	NM_000203.5(IDUA):c.792G>A (p.Lys264=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 3377591	NM_000203.5(IDUA):c.271del (p.His91fs)	IDUA, SLC26A1 (H91fs)	Deletion (3 prime UTR variant +3 more)	Hurler syndrome	GLikely pathogenic
Select item 3376497	NM_000203.5(IDUA):c.1655C>T (p.Thr552Met)	IDUA (T420M +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 3254789	NM_000203.5(IDUA):c.624_628dup (p.Arg210fs)	IDUA (R210fs +1 more)	Duplication (frameshift variant +1 more)	Hurler syndrome	GPathogenic
Select item 3147976	NM_000203.5(IDUA):c.530T>G (p.Phe177Cys)	IDUA (F177C +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GPathogenic
Select item 3061994	NM_000203.5(IDUA):c.1652T>A (p.Val551Asp)	IDUA (V419D +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 2630132	NM_000203.5(IDUA):c.1759C>T (p.Gln587Ter)	IDUA (Q455* +1 more)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome +1 more	GPathogenic
Select item 2585643	NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)	IDUA (Q125*)	Single nucleotide variant (nonsense +2 more)	Hurler syndrome	GLikely pathogenic
Select item 2507023	NM_000203.5(IDUA):c.300-4092_300-2318del	IDUA	Deletion (intron variant)	Hurler syndrome	GPathogenic
Select item 2498386	NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)	IDUA (E267del +1 more)	Microsatellite (inframe_deletion +1 more)	Hurler syndrome	GLikely pathogenic
Select item 2142765	NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)	IDUA	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2057398	NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)	IDUA (N218D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1685351	NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)	IDUA (A187E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GLikely pathogenic
Select item 1679336	NM_000203.5(IDUA):c.718C>A (p.His240Asn)	IDUA (H108N +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 1526193	NM_000203.5(IDUA):c.589+1G>T	IDUA	Single nucleotide variant (splice donor variant)	Hurler syndrome	GLikely pathogenic
Select item 1526094	NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)	IDUA (G197S +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely pathogenic
Select item 1440837	NM_000203.5(IDUA):c.90C>G (p.His30Gln)	IDUA, SLC26A1 (H30Q)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +3 more	GUncertain significance
Select item 1438371	NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)	IDUA, SLC26A1 (R38C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1430547	NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)	IDUA (N68K +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +3 more	GUncertain significance
Select item 1349690	NM_000203.5(IDUA):c.340C>A (p.Leu114Met)	IDUA (L114M)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-I-S +3 more	GUncertain significance
Select item 1343382	NM_000203.5(IDUA):c.362T>C (p.Leu121Pro)	IDUA (L121P)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome	GLikely pathogenic
Select item 1339515	NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)	IDUA (E367fs +1 more)	Microsatellite (frameshift variant +1 more)	Hurler syndrome +1 more	GPathogenic
Select item 1339514	NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	IDUA (L491P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypokalemia-hypomagnesemia +2 more	GPathogenic/Likely pathogenic
Select item 1332863	NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp)	IDUA (G498D +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely pathogenic
Select item 1185530	NM_000203.5(IDUA):c.299+3990A>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1185222	NM_000203.5(IDUA):c.1727+72T>G	IDUA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1076378	NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)	IDUA, SLC26A1 (Q63*)	Single nucleotide variant (3 prime UTR variant +3 more)	Hurler syndrome +1 more	GPathogenic
Select item 1065522	NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)	IDUA (T234fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S +1 more	GPathogenic/Likely pathogenic
Select item 1064675	NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	IDUA (R496P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1032253	NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)	IDUA (P361T +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 990334	NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)	IDUA (F155C +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 987878	NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)	IDUA (E167* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 984180	NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)	IDUA (W175* +1 more)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome +2 more	GPathogenic/Likely pathogenic
Select item 982797	NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)	IDUA (A271T +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 971486	NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)	IDUA (G165D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 956890	NM_000203.5(IDUA):c.784del (p.His262fs)	IDUA (H262fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis type 1 +4 more	GConflicting classifications of pathogenicity
Select item 933134	NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)	PITX1 (K138Q)	Single nucleotide variant (missense variant)	Hurler syndrome	GLikely pathogenic
Select item 928997	NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)	IDUA (W494* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +3 more	GPathogenic
Select item 904673	NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)	IDUA (A292T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +3 more	GUncertain significance
Select item 863830	NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)	IDUA	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-I-S +3 more	GPathogenic/Likely pathogenic
Select item 856833	NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)	IDUA (S423R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +4 more	GPathogenic/Likely pathogenic
Select item 851683	NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)	IDUA (P361R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +5 more	GUncertain significance
Select item 845547	NM_000203.5(IDUA):c.1395dup (p.Gly466fs)	IDUA (G334fs +1 more)	Duplication (frameshift variant +1 more)	Hurler syndrome +1 more	GPathogenic
Select item 828094	NM_000203.5(IDUA):c.1163del (p.Thr388fs)	IDUA (T388fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 802046	NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys)	IDUA (T285K +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 633271	NM_000203.5(IDUA):c.1349C>A (p.Pro450His)	IDUA (P450H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 623139	NM_000203.5(IDUA):c.390del (p.Phe130fs)	IDUA (F130fs)	Deletion (frameshift variant +2 more)	Hurler syndrome	GLikely pathogenic
Select item 580286	NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	IDUA, SLC26A1 (R89W)	Single nucleotide variant (3 prime UTR variant +3 more)	Hurler syndrome +4 more	GPathogenic/Likely pathogenic
Select item 558615	NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)	IDUA (T388M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558614	NM_000203.5(IDUA):c.1161C>T (p.Leu387=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Hurler syndrome +1 more	GLikely benign
Select item 558477	NM_000203.5(IDUA):c.542dup (p.Asn181fs)	IDUA (N181fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558359	NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter)	IDUA (E640* +1 more)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GUncertain significance
Select item 558316	NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)	IDUA	Duplication (inframe_insertion +1 more)	Hurler syndrome	GUncertain significance
Select item 558189	NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	IDUA (R383H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558143	NM_000203.5(IDUA):c.493+1G>A	IDUA	Single nucleotide variant (splice donor variant)	Hurler syndrome	GLikely pathogenic
Select item 558079	NM_000203.5(IDUA):c.589+1G>A	IDUA	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 1 +1 more	GLikely pathogenic
Select item 558027	NM_000203.5(IDUA):c.973-4G>A	IDUA	Single nucleotide variant (intron variant)	Hurler syndrome	GUncertain significance
Select item 557950	NM_000203.5(IDUA):c.299+3602del	IDUA, SLC26A1 (D52fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 557942	NM_000203.5(IDUA):c.494-1G>A	IDUA	Single nucleotide variant (splice acceptor variant)	Hurler syndrome	GPathogenic
Select item 557885	NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)	IDUA (D349del +1 more)	Deletion (inframe_deletion +1 more)	Hurler syndrome +2 more	GPathogenic/Likely pathogenic
Select item 557870	NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)	IDUA (N348K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557744	NM_000203.5(IDUA):c.1728-2A>G	IDUA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557622	NM_000203.5(IDUA):c.299+3444_299+3445del	IDUA, SLC26A1 (T104fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 557616	NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)	IDUA (G409E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 557537	NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)	IDUA (Q296fs +1 more)	Duplication (frameshift variant +1 more)	Hurler syndrome +1 more	GPathogenic/Likely pathogenic
Select item 557528	NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)	IDUA	Duplication (inframe_insertion +1 more)	not provided +2 more	GUncertain significance
Select item 557472	NM_000203.5(IDUA):c.793-1G>A	IDUA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557332	NM_000203.5(IDUA):c.300-1G>A	IDUA	Single nucleotide variant (splice acceptor variant)	Hurler syndrome	GLikely pathogenic
Select item 557260	NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)	IDUA	Deletion (inframe_deletion +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 557205	NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)	IDUA (R363C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 557175	NM_000203.5(IDUA):c.299+1078del	IDUA, SLC26A1 (A639fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 557150	NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	SLC26A1, IDUA (M1I)	Single nucleotide variant (missense variant +3 more)	Hurler syndrome +1 more	GLikely pathogenic
Select item 556690	NM_000203.5(IDUA):c.159-1G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GLikely pathogenic
Select item 556616	NM_000203.5(IDUA):c.299+1506del	IDUA, SLC26A1 (I495fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 556588	NM_000203.5(IDUA):c.1650+2C>G	IDUA	Single nucleotide variant (splice donor variant)	Hurler syndrome	GLikely pathogenic
Select item 556527	NM_000203.5(IDUA):c.1828+1G>C	IDUA	Single nucleotide variant (splice donor variant)	Hurler syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556504	NM_000203.5(IDUA):c.1190-2A>T	IDUA	Single nucleotide variant (splice acceptor variant)	Hurler syndrome +3 more	GLikely pathogenic
Select item 556406	NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)	IDUA (S633L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +3 more	GPathogenic
Select item 556358	NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	IDUA (T179R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 556314	NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup)	IDUA	Microsatellite (inframe_insertion +1 more)	Hurler syndrome	GUncertain significance
Select item 556253	NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)	IDUA (G484fs +1 more)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely pathogenic
Select item 556223	NM_000203.5(IDUA):c.299+3410_299+3424dup	IDUA, SLC26A1	Duplication (inframe_insertion +1 more)	Hurler syndrome	GLikely benign
Select item 556184	NM_000203.5(IDUA):c.1591del (p.Arg531fs)	IDUA (R399fs +1 more)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely pathogenic
Select item 556156	NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del)	IDUA	Deletion (inframe_deletion +1 more)	Hurler syndrome	GUncertain significance
Select item 556106	NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro)	IDUA (L387P +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 556024	NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)	IDUA (P385R +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +2 more	GUncertain significance
Select item 555979	NM_000203.5(IDUA):c.299+1087G>A	IDUA, SLC26A1 (R635*)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 555941	NM_000203.5(IDUA):c.299+1225G>A	IDUA, SLC26A1 (Q589*)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 555908	NM_000203.5(IDUA):c.299+3566G>T	IDUA, SLC26A1 (Y63*)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 555790	NM_000203.5(IDUA):c.1829-2A>G	IDUA	Single nucleotide variant (splice acceptor variant)	Hurler syndrome +1 more	GLikely pathogenic
Select item 555513	NM_000203.5(IDUA):c.299+1212del	IDUA, SLC26A1 (L593fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 555490	NM_000203.5(IDUA):c.1402+1G>A	IDUA	Single nucleotide variant (splice donor variant)	Hurler syndrome	GLikely pathogenic
Select item 555367	NM_000203.5(IDUA):c.299+1089del	IDUA, SLC26A1 (R634fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 555230	NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)	IDUA (W402* +1 more)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome +1 more	GPathogenic
Select item 555169	NM_000203.5(IDUA):c.1524+1G>T	IDUA	Single nucleotide variant (splice donor variant)	Hurler syndrome	GLikely pathogenic
Select item 554838	NM_000203.5(IDUA):c.299+1363dup	IDUA, SLC26A1 (P545fs)	Duplication (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 554826	NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)	IDUA (Y618* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 554794	NM_000203.5(IDUA):c.299+1414_299+1415del	IDUA, SLC26A1 (T526fs)	Microsatellite (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 554765	NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)	IDUA (N372S +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +1 more	GConflicting classifications of pathogenicity

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