C0023786[trait identifier] AND "Natera, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990330	NM_000203.5(IDUA):c.-2C>T	IDUA, SLC26A1	Single nucleotide variant (5 prime UTR variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 550458	NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	IDUA, SLC26A1 (M1L)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 639529	NM_000203.5(IDUA):c.2T>C (p.Met1Thr)	IDUA, SLC26A1 (M1T)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 526832	NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)	IDUA, SLC26A1 (L4P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 92638	NM_000203.5(IDUA):c.24C>A (p.Ala8=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 719033	NM_000203.5(IDUA):c.30G>A (p.Leu10=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GConflicting classifications of pathogenicity
Select item 92643	NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	SLC26A1, IDUA	Deletion (non-coding transcript variant +1 more)	not provided +4 more	GPathogenic
Select item 745113	NM_000203.5(IDUA):c.42G>C (p.Leu14=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 990331	NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)	IDUA, SLC26A1 (A19P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 92647	NM_000203.5(IDUA):c.60G>A (p.Ala20=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 1000369	NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)	IDUA, SLC26A1 (P22A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 658528	NM_000203.5(IDUA):c.65C>T (p.Pro22Leu)	IDUA, SLC26A1 (P22L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 1017452	NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)	IDUA, SLC26A1 (P25S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 712785	NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)	IDUA, SLC26A1 (A26T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 92651	NM_000203.5(IDUA):c.99T>G (p.His33Gln)	SLC26A1, IDUA (H33Q)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GBenign
Select item 193061	NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	SLC26A1, IDUA (G51D)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +4 more	GPathogenic
Select item 855487	NM_000203.5(IDUA):c.164dup (p.Leu56fs)	IDUA, SLC26A1 (L56fs)	Duplication (frameshift variant +3 more)	See cases +2 more	GPathogenic
Select item 748364	NM_000203.5(IDUA):c.162C>A (p.Pro54=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 968667	NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)	IDUA, SLC26A1 (P55L)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +2 more	GUncertain significance
Select item 655054	NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)	IDUA, SLC26A1 (Q60*)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 11909	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	IDUA, SLC26A1 (Q70*)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +7 more	GPathogenic
Select item 222993	NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	SLC26A1, IDUA (A75T)	Single nucleotide variant (missense variant +3 more)	Hurler syndrome +2 more	GPathogenic
Select item 1002781	NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)	IDUA, SLC26A1 (G78D)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 281071	NM_000203.5(IDUA):c.234C>T (p.Gly78=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 762045	NM_000203.5(IDUA):c.237C>T (p.Ala79=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 195039	NM_000203.5(IDUA):c.245A>C (p.His82Pro)	IDUA, SLC26A1 (H82P)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 839353	NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)	IDUA, SLC26A1 (R83C)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 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 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 280992	NM_000203.5(IDUA):c.296C>T (p.Thr99Ile)	IDUA, SLC26A1 (T99I)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +2 more	GBenign
Select item 283485	NM_000203.5(IDUA):c.299+7G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 526836	NM_000203.5(IDUA):c.299+10G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	IDUA-related disorder +1 more	GLikely benign
Select item 255526	NM_000203.5(IDUA):c.300-44C>T	IDUA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 92641	NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)	IDUA (R105Q)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +5 more	GBenign
Select item 850662	NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)	IDUA (S108C)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 712837	NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)	IDUA (G116R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GBenign/Likely benign
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 743129	NM_000203.5(IDUA):c.357C>T (p.Asp119=)	IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 350221	NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)	IDUA (R122K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 551966	NM_000203.5(IDUA):c.385+1G>C	IDUA	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 1 +1 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 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 708335	NM_000203.5(IDUA):c.405C>T (p.Ser135=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GBenign
Select item 964816	NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)	IDUA (A136T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GUncertain significance
Select item 715273	NM_000203.5(IDUA):c.408C>T (p.Ala136=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 851101	NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)	IDUA (G138D +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 971485	NM_000203.5(IDUA):c.493+6C>G	IDUA	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 736713	NM_000203.5(IDUA):c.493+7G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 785720	NM_000203.5(IDUA):c.493+10C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GBenign
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 526838	NM_000203.5(IDUA):c.534G>A (p.Glu178=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
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 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 990332	NM_000203.5(IDUA):c.557A>G (p.His186Arg)	IDUA (H186R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GUncertain significance
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 794180	NM_000203.5(IDUA):c.590-8C>G	IDUA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92646	NM_000203.5(IDUA):c.590-8C>T	IDUA	Single nucleotide variant (intron variant)	Hurler syndrome +5 more	GBenign
Select item 222996	NM_000203.5(IDUA):c.590-7G>A	IDUA	Single nucleotide variant (intron variant)	Hurler syndrome +2 more	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 552333	NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	IDUA (Y202* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 11921	NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)	IDUA (E207fs +1 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 1005766	NM_000203.5(IDUA):c.618G>A (p.Ser206=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 350222	NM_000203.5(IDUA):c.630C>T (p.Arg210=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 849186	NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)	IDUA (R217W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 350223	NM_000203.5(IDUA):c.663C>G (p.Pro221=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 426817	NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)	IDUA (D223N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign; other
Select item 736900	NM_000203.5(IDUA):c.675C>T (p.Phe225=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GLikely benign
Select item 967169	NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)	IDUA (P228S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 794927	NM_000203.5(IDUA):c.693C>T (p.Ser231=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 456719	NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)	IDUA (S234T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 791065	NM_000203.5(IDUA):c.709C>T (p.Leu237Phe)	IDUA (L105F +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GBenign/Likely benign
Select item 265418	NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	IDUA (L238Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +2 more	GPathogenic/Likely pathogenic
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 554213	NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)	IDUA (G253C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +4 more	GConflicting classifications of pathogenicity
Select item 745487	NM_000203.5(IDUA):c.765G>C (p.Arg255=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GLikely benign
Select item 1057164	NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)	IDUA (D125G +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 956890	NM_000203.5(IDUA):c.784del (p.His262fs)	IDUA (H262fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-S +4 more	GPathogenic
Select item 1045420	NM_000203.5(IDUA):c.784C>T (p.His262Tyr)	IDUA (H130Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 550605	NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)	IDUA (R263W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 350225	NM_000203.5(IDUA):c.793-9C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GConflicting classifications of pathogenicity
Select item 1054245	NM_000203.5(IDUA):c.793-5C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
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 638074	NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)	IDUA (G265R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 905910	NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)	IDUA (S137C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 990333	NM_000203.5(IDUA):c.850C>T (p.Arg284Trp)	IDUA (R152W +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	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 550382	NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)	IDUA	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 456720	NM_000203.5(IDUA):c.876del (p.Asp292fs)	IDUA (D160fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1141288	NM_000203.5(IDUA):c.882C>T (p.Pro294=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
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 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 11923	NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)	IDUA (A300T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 648087	NM_000203.5(IDUA):c.932C>T (p.Pro311Leu)	IDUA (P179L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 855322	NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)	IDUA (W312* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1	GPathogenic
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 794992	NM_000203.5(IDUA):c.957G>C (p.Ala319=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 990335	NM_000203.5(IDUA):c.972+8G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 255529	NM_000203.5(IDUA):c.972+48A>G	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255530	NM_000203.5(IDUA):c.973-45G>C	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign

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