"Natera, Inc."[submitter] AND "IDS"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1117816	NM_000202.8(IDS):c.1642T>C (p.Leu548=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 968479	NM_000202.8(IDS):c.1478G>A (p.Arg493His)	IDS (R493H +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 747479	NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)	IDS (R458C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 10486	NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)	IDS (R443* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 1026222	NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)	IDS (R343G +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 737805	NM_000202.8(IDS):c.1284C>T (p.His428=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 967476	NM_000202.8(IDS):c.1270G>A (p.Val424Ile)	IDS (V424I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 590249	NM_000202.8(IDS):c.1269C>T (p.Pro423=)	IDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 198996	NM_000202.8(IDS):c.1227G>A (p.Thr409=)	IDS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1008613	NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)	IDS (R305T +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 767192	NM_000202.8(IDS):c.1159G>A (p.Ala387Thr)	IDS, LOC106050102 (A387T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1166346	NM_000202.8(IDS):c.1158C>T (p.Ser386=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 568588	NM_000202.8(IDS):c.1144G>C (p.Asp382His)	IDS, LOC106050102 (D382H +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GUncertain significance
Select item 707376	NM_000202.8(IDS):c.1143C>T (p.Leu381=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 969056	NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)	LOC106050102, IDS (E375K +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1091352	NM_000202.8(IDS):c.1100C>T (p.Thr367Met)	IDS, LOC106050102 (T277M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 772123	NM_000202.8(IDS):c.1006+8T>C	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 985084	NM_000202.8(IDS):c.958G>A (p.Asp320Asn)	IDS, LOC106050102 (D230N +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GUncertain significance
Select item 1169458	NM_000202.8(IDS):c.957C>A (p.Asp319Glu)	IDS, LOC106050102 (D229E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 771625	NM_000202.8(IDS):c.937C>T (p.Arg313Cys)	IDS, LOC106050102 (R313C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GBenign/Likely benign
Select item 424167	NM_000202.8(IDS):c.934G>A (p.Gly312Ser)	IDS, LOC106050102 (G312S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GConflicting classifications of pathogenicity
Select item 990715	NM_000202.8(IDS):c.933C>T (p.Val311=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 198405	NM_000202.8(IDS):c.925A>G (p.Thr309Ala)	IDS, LOC106050102 (T309A +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GConflicting classifications of pathogenicity
Select item 1165568	NM_000202.8(IDS):c.894G>A (p.Gln298=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 791679	NM_000202.8(IDS):c.884A>G (p.Lys295Arg)	IDS, LOC106050102 (K295R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GBenign/Likely benign
Select item 767325	NM_000202.8(IDS):c.881G>A (p.Arg294Gln)	IDS, LOC106050102 (R204Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 733577	NM_000202.8(IDS):c.849G>C (p.Val283=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	IDS-related disorder +2 more	GBenign/Likely benign
Select item 698195	NM_000202.8(IDS):c.825C>T (p.Asp275=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	IDS-related disorder +2 more	GBenign/Likely benign
Select item 589455	NM_000202.8(IDS):c.781C>G (p.Pro261Ala)	LOC106050102, IDS (P261A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 763032	NM_000202.8(IDS):c.760G>A (p.Glu254Lys)	IDS, LOC106050102 (E164K +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 425514	NM_000202.8(IDS):c.754G>A (p.Asp252Asn)	IDS, LOC106050102 (D252N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1104296	NM_000202.8(IDS):c.717G>A (p.Gln239=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GLikely benign
Select item 1275894	NM_000202.8(IDS):c.709-661del	IDS, LOC106050102	Deletion (intron variant)	not provided +1 more	GBenign
Select item 775044	NM_000202.8(IDS):c.696C>T (p.Phe232=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 725382	NM_000202.8(IDS):c.684A>G (p.Pro228=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 697822	NM_000202.8(IDS):c.666C>T (p.Ala222=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	IDS-related disorder +2 more	GBenign/Likely benign
Select item 92622	NM_000202.8(IDS):c.641C>T (p.Thr214Met)	LOC106050102, IDS (T214M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 757576	NM_000202.8(IDS):c.507+6G>T	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 457346	NM_000202.8(IDS):c.467C>A (p.Pro156Gln)	IDS, LOC106050102 (P156Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 457354	NM_000202.8(IDS):c.465T>A (p.Phe155Leu)	IDS, LOC106050102 (F155L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +3 more	GBenign
Select item 708190	NM_000202.8(IDS):c.450G>A (p.Pro150=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 852949	NM_000202.8(IDS):c.449C>T (p.Pro150Leu)	IDS, LOC106050102 (P60L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 624448	NM_000202.8(IDS):c.445T>G (p.Ser149Ala)	IDS, LOC106050102 (S149A +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GBenign/Likely benign
Select item 92619	NM_000202.8(IDS):c.438C>T (p.Thr146=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 197122	NM_000202.8(IDS):c.419-16dup	IDS, LOC106050102	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558997	NM_000202.8(IDS):c.419-6del	IDS, LOC106050102	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 196233	NM_000202.8(IDS):c.396G>A (p.Ser132=)	IDS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 791680	NM_000202.8(IDS):c.336C>T (p.His112=)	IDS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GBenign/Likely benign
Select item 286895	NM_000202.8(IDS):c.301C>T (p.Arg101Cys)	IDS (R101C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 739285	NM_000202.8(IDS):c.237G>A (p.Ala79=)	IDS (R4H)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 588641	NM_000202.8(IDS):c.236C>T (p.Ala79Val)	IDS (A79V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 707989	NM_000202.8(IDS):c.234T>C (p.Phe78=)	IDS (L3S)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 709538	NM_000202.8(IDS):c.162T>C (p.Tyr54=)	IDS	Single nucleotide variant (5 prime UTR variant +2 more)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 195036	NM_000202.8(IDS):c.104A>G (p.Asp35Gly)	IDS (D35G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 772367	NM_000202.8(IDS):c.103+7C>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II +1 more	GBenign/Likely benign
Select item 703303	NM_000202.8(IDS):c.97A>T (p.Thr33Ser)	IDS (T33S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1169071	NM_000202.8(IDS):c.41G>A (p.Gly14Asp)	IDS, LOC130068781 (G14D)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 757068	NM_000202.8(IDS):c.23G>T (p.Arg8Leu)	IDS, LOC130068781 (R8L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign

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Items: 58