Related gene-specific medical variations for Gene (Select 3423) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234911	NM_000202.8(IDS):c.748G>A (p.Ala250Thr)	IDS, LOC106050102 (A160T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 3062485	GRCh37/hg19 Xq28(chrX:148142151-148570604)	IDS	Copy number gain	not specified	GUncertain significance
Select item 3062164	NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)	IDS (I395T +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 3044406	NM_000202.8(IDS):c.709-652C>T	IDS, LOC106050102	Single nucleotide variant (intron variant)	IDS-related disorder	GBenign
Select item 3022796	NM_000202.8(IDS):c.879+12A>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 3018772	NM_000202.8(IDS):c.508-20A>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 3017259	NM_000202.8(IDS):c.636G>A (p.Met212Ile)	IDS, LOC106050102 (M122I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 3004511	NM_000202.8(IDS):c.1101G>A (p.Thr367=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 3003347	NM_000202.8(IDS):c.708+19G>T	LOC106050102, IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 3000159	NM_000202.8(IDS):c.974A>G (p.Asn325Ser)	IDS, LOC106050102 (N235S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2998609	NM_000202.8(IDS):c.880-19del	IDS, LOC106050102	Deletion (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2998608	NM_000202.8(IDS):c.880-11dup	IDS, LOC106050102	Duplication (intron variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 2995484	NM_000202.8(IDS):c.1006+19C>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2988342	NM_000202.8(IDS):c.570T>C (p.Asp190=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2981388	NM_000202.8(IDS):c.31C>T (p.Leu11Phe)	IDS, LOC130068781 (L11F)	Single nucleotide variant (5 prime UTR variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2967143	NM_000202.8(IDS):c.1180+17A>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2966724	NM_000202.8(IDS):c.880-11del	IDS, LOC106050102	Deletion (intron variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 2920084	NM_000202.8(IDS):c.1006+19C>T	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2919623	NM_000202.8(IDS):c.1067A>G (p.His356Arg)	IDS, LOC106050102 (H266R +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2916956	NM_000202.8(IDS):c.576C>G (p.Pro192=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2915816	NM_000202.8(IDS):c.879+20G>A	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2912084	NM_000202.8(IDS):c.508-20del	IDS, LOC106050102	Deletion (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2907787	NM_000202.8(IDS):c.546G>A (p.Leu182=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2907072	NM_000202.8(IDS):c.482C>G (p.Ser161Cys)	IDS, LOC106050102 (S71C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2905164	NM_000202.8(IDS):c.37C>T (p.Leu13=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2904929	NM_000202.8(IDS):c.771T>A (p.Asp257Glu)	IDS, LOC106050102 (D167E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2898598	NM_000202.8(IDS):c.507+17G>C	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2897842	NM_000202.8(IDS):c.419-3A>G	LOC106050102, IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2896834	NM_000202.8(IDS):c.1149T>G (p.Pro383=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2895550	NM_000202.8(IDS):c.507+20A>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2894940	NM_000202.8(IDS):c.508-15A>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2887805	NM_000202.8(IDS):c.978C>T (p.Ser326=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2886226	NM_000202.8(IDS):c.738C>T (p.Asn246=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2862194	NM_000202.8(IDS):c.931G>T (p.Val311Phe)	IDS, LOC106050102 (V221F +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2858973	NM_000202.8(IDS):c.66C>T (p.Val22=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2857210	NM_000202.8(IDS):c.419-4del	IDS, LOC106050102	Deletion (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2855861	NM_000202.8(IDS):c.708+6G>T	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2849592	NM_000202.8(IDS):c.33C>T (p.Leu11=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2842004	NM_000202.8(IDS):c.909T>C (p.Ser303=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2840597	NM_000202.8(IDS):c.879+11del	IDS, LOC106050102	Deletion (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2826931	NM_000202.8(IDS):c.879+17T>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2821592	NM_000202.8(IDS):c.12C>G (p.Pro4=)	IDS, LOC130068781	Single nucleotide variant (5 prime UTR variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2820047	NM_000202.8(IDS):c.13C>A (p.Arg5=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2818745	NM_000202.8(IDS):c.508-8T>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2817422	NM_000202.8(IDS):c.30dup (p.Leu11fs)	IDS, LOC130068781 (L11fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2815740	NM_000202.8(IDS):c.783T>C (p.Pro261=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2814227	NM_000202.8(IDS):c.500A>G (p.Asn167Ser)	IDS, LOC106050102 (N77S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2801291	NM_000202.8(IDS):c.1177C>G (p.Pro393Ala)	IDS, LOC106050102 (P303A +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2798679	NM_000202.8(IDS):c.18C>G (p.Thr6=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2796579	NM_000202.8(IDS):c.858T>G (p.Gly286=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2785080	NM_000202.8(IDS):c.448C>T (p.Pro150Ser)	IDS, LOC106050102 (P150S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2765378	NM_000202.8(IDS):c.879+14A>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2755270	NM_000202.8(IDS):c.1006+9T>C	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2754352	NM_000202.8(IDS):c.1006+12G>T	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2747619	NM_000202.8(IDS):c.419-10T>C	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2740978	NM_000202.8(IDS):c.578A>G (p.Glu193Gly)	IDS, LOC106050102 (E193G +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2738905	NM_000202.8(IDS):c.1065C>T (p.Thr355=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2738184	NM_000202.8(IDS):c.516A>G (p.Arg172=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2737394	NM_000202.8(IDS):c.36G>A (p.Trp12Ter)	IDS, LOC130068781 (W12*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2737389	NM_000202.8(IDS):c.551G>T (p.Cys184Phe)	IDS, LOC106050102 (C184F +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2737388	NM_000202.8(IDS):c.671G>C (p.Gly224Ala)	IDS, LOC106050102 (G134A +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2737387	NM_000202.8(IDS):c.686A>G (p.His229Arg)	IDS, LOC106050102 (H139R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2737386	NM_000202.8(IDS):c.782del (p.Pro261fs)	IDS, LOC106050102 (P171fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2737384	NM_000202.8(IDS):c.1007-1G>A	IDS, LOC106050102	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2737383	NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)	IDS, LOC106050102 (G336E +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2737382	NM_000202.8(IDS):c.1019G>A (p.Gly340Asp)	IDS, LOC106050102 (G340D +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2736191	NM_000202.8(IDS):c.705C>T (p.Pro235=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2729270	NM_000202.8(IDS):c.419-17C>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2715944	NM_000202.8(IDS):c.1180+14T>C	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2712409	NM_000202.8(IDS):c.420G>T (p.Gly140=)	IDS, LOC106050102	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2704701	NM_000202.8(IDS):c.1057G>T (p.Val353Phe)	IDS, LOC106050102 (V263F +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2703222	NM_000202.8(IDS):c.507+17G>T	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2701552	NM_000202.8(IDS):c.57C>G (p.Ser19=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2698926	NM_000202.8(IDS):c.78C>A (p.Ser26=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2698793	NM_000202.8(IDS):c.880-2_880-1delinsCC	IDS, LOC106050102	Indel (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2689230	NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)	IDS (S380L +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2685021	GRCh37/hg19 Xq28(chrX:148093977-148608042)x3	IDS	Copy number gain	not provided	GUncertain significance
Select item 2661617	NM_000202.8(IDS):c.15G>C (p.Arg5=)	IDS, LOC130068781	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2632217	NM_000202.8(IDS):c.938G>A (p.Arg313His)	IDS, LOC106050102 (R223H +1 more)	Single nucleotide variant (missense variant +1 more)	IDS-related disorder	GUncertain significance
Select item 2584938	NM_000202.8(IDS):c.1170del (p.Met391fs)	IDS, LOC106050102 (M301fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2578164	NM_000202.8(IDS):c.1070T>C (p.Val357Ala)	IDS, LOC106050102 (V267A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576186	NM_000202.8(IDS):c.536A>G (p.His179Arg)	IDS, LOC106050102 (H179R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576038	NM_000202.8(IDS):c.465_467delinsACA (p.Phe155_Pro156delinsLeuGln)	IDS, LOC106050102	Indel (missense variant +1 more)	not provided	GUncertain significance
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 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 2445994	NM_000202.8(IDS):c.623T>A (p.Leu208Ter)	IDS, LOC106050102 (L118* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2445990	NM_000202.8(IDS):c.1035G>T (p.Trp345Cys)	IDS, LOC106050102 (W255C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2440852	NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)	IDS (N38fs)	Insertion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2440838	NM_000202.8(IDS):c.285_287del (p.Arg96del)	IDS (R96del)	Deletion (inframe_deletion +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2440836	NM_000202.8(IDS):c.685C>T (p.His229Tyr)	IDS, LOC106050102 (H139Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2440833	NM_000202.8(IDS):c.777dup (p.Pro260fs)	LOC106050102, IDS (P170fs +1 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2440830	NM_000202.8(IDS):c.877C>T (p.Gln293Ter)	IDS, LOC106050102 (Q203* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2440826	NM_000202.8(IDS):c.794A>T (p.Asn265Ile)	IDS, LOC106050102 (N175I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2440823	NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)	IDS (E359fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 2436764	NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter)	IDS (Y362* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2436753	NM_000202.8(IDS):c.880-2A>G	IDS, LOC106050102	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2432693	NM_000202.8(IDS):c.119T>C (p.Leu40Pro)	IDS (L40P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2432692	NM_000202.8(IDS):c.116T>A (p.Val39Asp)	IDS (V39D)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2432691	NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)	IDS (P460R +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2432689	NM_000202.8(IDS):c.200T>C (p.Leu67Pro)	IDS (L67P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance

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