ClinVar for MedGen (Select 88566) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726576	NM_000203.5(IDUA):c.751del (p.Glu251fs)	IDUA (E119fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1726199	NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)	IDUA (L250* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1725952	NM_000203.5(IDUA):c.1644del (p.Gln550fs)	IDUA (Q418fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1725743	NM_000203.5(IDUA):c.663del (p.Gly222fs)	IDUA (G222fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1725617	NM_000203.5(IDUA):c.355del (p.Asp119fs)	IDUA (D119fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1725550	NM_000203.5(IDUA):c.24del (p.Ala9fs)	SLC26A1, IDUA (A9fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1725396	NM_000203.5(IDUA):c.520A>T (p.Lys174Ter)	IDUA (K174* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1724769	NM_000203.5(IDUA):c.1118_1130del (p.Asn373fs)	IDUA (N241fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1724760	NM_000203.5(IDUA):c.256A>T (p.Lys86Ter)	IDUA, SLC26A1 (K86*)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1724627	NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)	IDUA (S206* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1724557	NM_000203.5(IDUA):c.751dup (p.Glu251fs)	IDUA (E119fs +1 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1724512	NM_000203.5(IDUA):c.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)	IDUA	Insertion (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1724446	NM_000203.5(IDUA):c.1551del (p.Leu518fs)	IDUA (L386fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1724367	NM_000203.5(IDUA):c.42_43del (p.Ala15fs)	IDUA, SLC26A1 (A15fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1724215	NM_000203.5(IDUA):c.452_453del (p.Glu151fs)	IDUA (E151fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1723956	NM_000203.5(IDUA):c.675_677delinsT (p.Thr227fs)	IDUA (T227fs +1 more)	Indel (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 1440837	NM_000203.5(IDUA):c.90C>G (p.His30Gln)	IDUA, SLC26A1 (H30Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +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)	Mucopolysaccharidosis type 1 +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 1323099	NM_000203.5(IDUA):c.1402+1G>T	IDUA	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 1 +2 more	GPathogenic
Select item 1323095	NM_000203.5(IDUA):c.165del (p.Leu56fs)	IDUA, SLC26A1 (L56fs)	Deletion (3 prime UTR variant +3 more)	not provided +1 more	GPathogenic
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 1184991	NM_000203.5(IDUA):c.911del (p.Val304fs)	IDUA (V172fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1073056	NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)	IDUA (Y202* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S +1 more	GPathogenic/Likely pathogenic
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 984181	NM_000203.5(IDUA):c.539G>A (p.Trp180Ter)	IDUA (W180* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
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 984179	NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)	IDUA (Q147* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 983617	NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter)	IDUA (W355* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
Select item 983616	NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)	IDUA (Q275* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GLikely pathogenic
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)	Hurler syndrome +4 more	GConflicting classifications of pathogenicity
Select item 947028	NM_000203.5(IDUA):c.719A>G (p.His240Arg)	IDUA (H108R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S +1 more	GPathogenic/Likely pathogenic
Select item 931784	NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)	IDUA, SLC26A1 (V319M)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S	GBenign
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 853816	NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)	IDUA (C205* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +2 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 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 567566	NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)	IDUA (L526P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
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 556064	NM_000203.5(IDUA):c.1728-1G>C	IDUA	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 554280	NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)	IDUA, SLC26A1 (F52L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 551563	NM_000203.5(IDUA):c.300-3C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 444626	NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	IDUA (R621G +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +4 more	GUncertain significance
Select item 350186	NM_000203.5(IDUA):c.-71C>T	IDUA, SLC26A1	Single nucleotide variant (genic upstream transcript variant +2 more)	Mucopolysaccharidosis type 1 +3 more	GUncertain significance
Select item 255530	NM_000203.5(IDUA):c.973-45G>C	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255529	NM_000203.5(IDUA):c.972+48A>G	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255528	NM_000203.5(IDUA):c.590-45G>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-I-H/S +4 more	GBenign
Select item 255525	NM_000203.5(IDUA):c.1525-38T>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-I-H/S +2 more	GBenign
Select item 255522	NM_000203.5(IDUA):c.1402+36T>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-I-H/S +4 more	GBenign
Select item 222995	NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	IDUA (L218P +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +4 more	GPathogenic
Select item 222994	NM_000203.5(IDUA):c.386-2A>G	IDUA	Single nucleotide variant (splice acceptor variant)	Hurler syndrome +3 more	GPathogenic
Select item 193061	NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	IDUA, SLC26A1 (G51D)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +4 more	GPathogenic
Select item 167191	NM_000203.5(IDUA):c.1614del (p.His539fs)	IDUA (H539fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis type 1 +4 more	GPathogenic
Select item 92651	NM_000203.5(IDUA):c.99T>G (p.His33Gln)	IDUA, SLC26A1 (H33Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-I-S +5 more	GBenign
Select item 92650	NM_000203.5(IDUA):c.942G>C (p.Ala314=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 92649	NM_000203.5(IDUA):c.891C>T (p.Asn297=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 92646	NM_000203.5(IDUA):c.590-8C>T	IDUA	Single nucleotide variant (intron variant)	Hurler syndrome +5 more	GBenign
Select item 92645	NM_000203.5(IDUA):c.543T>C (p.Asn181=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Hurler syndrome +5 more	GBenign
Select item 92642	NM_000203.5(IDUA):c.352C>T (p.Leu118=)	IDUA	Single nucleotide variant (synonymous variant +2 more)	Hurler syndrome +5 more	GBenign
Select item 92641	NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)	IDUA (R105Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-I-H/S +5 more	GBenign
Select item 92630	NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)	IDUA (V454I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S +5 more	GBenign
Select item 11927	NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	IDUA (L346R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 11925	NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	IDUA (T364M +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 11924	NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)	IDUA (R619G +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +1 more	GConflicting classifications of pathogenicity
Select item 11922	NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	IDUA, SLC26A1 (R89Q)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 11920	NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	IDUA	Single nucleotide variant (stop lost +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 11919	NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	IDUA (L490P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 11917	NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	IDUA (R621* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +4 more	GPathogenic
Select item 11910	NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	IDUA (P533R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +5 more	GPathogenic
Select item 11909	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	SLC26A1, IDUA (Q70*)	Single nucleotide variant (3 prime UTR variant +3 more)	Hurler syndrome +7 more	GPathogenic
Select item 11908	NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	IDUA (W402* +1 more)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome +6 more	GPathogenic

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Items: 78