"Ambry Genetics"[submitter] AND "IDS"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2340582	NM_000202.8(IDS):c.1598A>T (p.His533Leu)	IDS (H533L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985029	NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)	IDS (Y409* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic/Likely pathogenic
Select item 968479	NM_000202.8(IDS):c.1478G>A (p.Arg493His)	IDS (R493H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2230429	NM_000202.8(IDS):c.1406C>G (p.Pro469Arg)	IDS (P469R +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GLikely pathogenic
Select item 1771447	NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)	IDS (Y463C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +2 more	GUncertain significance
Select item 747479	NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)	IDS (R458C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 967476	NM_000202.8(IDS):c.1270G>A (p.Val424Ile)	IDS (V424I +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +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 +2 more	GBenign
Select item 590250	NM_000202.8(IDS):c.1268C>T (p.Pro423Leu)	IDS (P423L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2051260	NM_000202.8(IDS):c.1222C>T (p.Pro408Ser)	IDS (P408S +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 1570425	NM_000202.8(IDS):c.1212G>C (p.Val404=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II +1 more	GLikely benign
Select item 767192	NM_000202.8(IDS):c.1159G>A (p.Ala387Thr)	IDS, LOC106050102 (A387T +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +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 1091352	NM_000202.8(IDS):c.1100C>T (p.Thr367Met)	IDS, LOC106050102 (T277M +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 1126548	NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys)	IDS, LOC106050102 (Y272C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GLikely benign
Select item 590213	NM_000202.8(IDS):c.1074C>G (p.Pro358=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 589006	NM_000202.8(IDS):c.999G>A (p.Ser333=)	LOC106050102, IDS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3285265	NM_000202.8(IDS):c.987_988del (p.Ala330fs)	IDS, LOC106050102 (A240fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 588728	NM_000202.8(IDS):c.957C>T (p.Asp319=)	LOC106050102, IDS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1492947	NM_000202.8(IDS):c.950C>A (p.Ala317Asp)	IDS, LOC106050102 (A227D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1767093	NM_000202.8(IDS):c.947G>C (p.Ser316Thr)	IDS, LOC106050102 (S316T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490676	NM_000202.8(IDS):c.931G>C (p.Val311Leu)	IDS, LOC106050102 (V221L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 198405	NM_000202.8(IDS):c.925A>G (p.Thr309Ala)	IDS, LOC106050102 (T309A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3285266	NM_000202.8(IDS):c.916T>C (p.Tyr306His)	IDS, LOC106050102 (Y216H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 791679	NM_000202.8(IDS):c.884A>G (p.Lys295Arg)	IDS, LOC106050102 (K295R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 725381	NM_000202.8(IDS):c.851C>T (p.Pro284Leu)	IDS, LOC106050102 (P194L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GConflicting classifications of pathogenicity
Select item 698195	NM_000202.8(IDS):c.825C>T (p.Asp275=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 427181	NM_000202.8(IDS):c.806A>T (p.Asp269Val)	IDS, LOC106050102 (D269V +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GLikely pathogenic
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 425514	NM_000202.8(IDS):c.754G>A (p.Asp252Asn)	IDS, LOC106050102 (D252N +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GConflicting classifications of pathogenicity
Select item 589014	NM_000202.8(IDS):c.753C>T (p.Pro251=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 457355	NM_000202.8(IDS):c.727C>T (p.Pro243Ser)	IDS, LOC106050102 (P243S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 2314566	NM_000202.8(IDS):c.722T>C (p.Leu241Ser)	IDS, LOC106050102 (L241S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1756686	NM_000202.8(IDS):c.701_705delinsG (p.Arg233_Tyr234insTer)	LOC106050102, IDS	Indel (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 725382	NM_000202.8(IDS):c.684A>G (p.Pro228=)	LOC106050102, IDS	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)	Mucopolysaccharidosis, MPS-II +1 more	GBenign
Select item 1754276	NM_000202.8(IDS):c.657C>A (p.Phe219Leu)	IDS, LOC106050102 (F129L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1148209	NM_000202.8(IDS):c.642G>A (p.Thr214=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely 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)	Mucopolysaccharidosis, MPS-II +3 more	GConflicting classifications of pathogenicity
Select item 1752893	NM_000202.8(IDS):c.632del (p.Lys211fs)	IDS, LOC106050102 (K121fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 589539	NM_000202.8(IDS):c.542A>G (p.Asn181Ser)	LOC106050102, IDS (N181S +1 more)	Single nucleotide variant (missense variant +1 more)	History of neurodevelopmental disorder	GUncertain significance
Select item 10490	NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	IDS, LOC106050102 (R172* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GPathogenic
Select item 457346	NM_000202.8(IDS):c.467C>A (p.Pro156Gln)	IDS, LOC106050102 (P156Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	not provided +2 more	GBenign
Select item 2562692	NM_000202.8(IDS):c.451T>C (p.Tyr151His)	IDS, LOC106050102 (Y151H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	not provided +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)	Mucopolysaccharidosis, MPS-II +3 more	GBenign
Select item 1164460	NM_000202.8(IDS):c.418+12T>C	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II +2 more	GConflicting classifications of pathogenicity
Select item 589491	NM_000202.8(IDS):c.357C>T (p.Ile119=)	IDS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1420774	NM_000202.8(IDS):c.352A>T (p.Thr118Ser)	IDS (T28S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GUncertain significance
Select item 791680	NM_000202.8(IDS):c.336C>T (p.His112=)	IDS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1729811	NM_000202.8(IDS):c.328A>C (p.Arg110=)	IDS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2389095	NM_000202.8(IDS):c.318C>G (p.Asn106Lys)	IDS (N16K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389094	NM_000202.8(IDS):c.315C>G (p.Phe105Leu)	IDS (F15L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1085105	NM_000202.8(IDS):c.309C>T (p.Tyr103=)	IDS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GLikely benign
Select item 2661615	NM_000202.8(IDS):c.302G>A (p.Arg101His)	IDS (R101H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1354138	NM_000202.8(IDS):c.289C>A (p.Pro97Thr)	IDS (P7T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GUncertain significance
Select item 2397856	NM_000202.8(IDS):c.279T>A (p.Thr93=)	IDS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2223308	NM_000202.8(IDS):c.273C>G (p.Phe91Leu)	IDS (F91L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1794878	NM_000202.8(IDS):c.269C>G (p.Ser90Cys)	IDS (S90C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1794541	NM_000202.8(IDS):c.266T>G (p.Val89Gly)	IDS (V89G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 527322	NM_000202.8(IDS):c.257C>T (p.Pro86Leu)	IDS (P86L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1781488	NM_000202.8(IDS):c.186_240+98del	IDS	Deletion (splice donor variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1790667	NM_000202.8(IDS):c.239A>G (p.Gln80Arg)	IDS (Q80R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1166377	NM_000202.8(IDS):c.236C>G (p.Ala79Gly)	IDS (A79G +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GBenign/Likely benign
Select item 588641	NM_000202.8(IDS):c.236C>T (p.Ala79Val)	IDS (A79V +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +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)	Mucopolysaccharidosis, MPS-II +2 more	GBenign/Likely benign
Select item 1788242	NM_000202.8(IDS):c.223C>G (p.Gln75Glu)	IDS (Q75E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1786537	NM_000202.8(IDS):c.213C>A (p.Ser71Arg)	IDS (S71R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1784125	NM_000202.8(IDS):c.199C>A (p.Leu67Met)	IDS (L67M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2317897	NM_000202.8(IDS):c.164G>T (p.Gly55Val)	IDS (G55V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 595868	NM_000202.8(IDS):c.126C>T (p.Ile42=)	IDS	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II +2 more	GBenign/Likely benign
Select item 590202	NM_000202.8(IDS):c.123C>G (p.Leu41=)	IDS	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 588045	NM_000202.8(IDS):c.103+5C>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II +1 more	GBenign/Likely benign
Select item 1597555	NM_000202.8(IDS):c.84G>T (p.Thr28=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2082270	NM_000202.8(IDS):c.58G>C (p.Val20Leu)	IDS, LOC130068781 (V20L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 2324536	NM_000202.8(IDS):c.28C>T (p.Leu10Phe)	IDS, LOC130068781 (L10F)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 757068	NM_000202.8(IDS):c.23G>T (p.Arg8Leu)	IDS, LOC130068781 (R8L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II +2 more	GBenign/Likely benign
Select item 2320944	NM_000202.8(IDS):c.10C>A (p.Pro4Thr)	IDS, LOC130068781 (P4T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 80