ClinVar for MedGen (Select 7734) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3022796	NM_000202.8(IDS):c.879+12A>G	IDS, LOC106050102	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 3022399	NM_000202.8(IDS):c.418+14T>C	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GBenign
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 3011497	NM_000202.8(IDS):c.103+19C>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 3011240	NM_000202.8(IDS):c.103+11C>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 3009382	NM_000202.8(IDS):c.258G>A (p.Pro86=)	IDS	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 3007329	NM_000202.8(IDS):c.1248G>T (p.Leu416=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
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 2997942	NM_000202.8(IDS):c.418+10C>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2995947	NM_000202.8(IDS):c.104-16C>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
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 2992371	NM_000202.8(IDS):c.240+14C>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2989747	NM_000202.8(IDS):c.103+9C>T	IDS	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 2986721	NM_000202.8(IDS):c.418+6_418+7del	IDS	Deletion (intron variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
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 2961813	NM_000202.8(IDS):c.101C>A (p.Thr34Lys)	IDS (T34K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2956905	NM_000202.8(IDS):c.103+13C>G	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
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 2919921	NM_000202.8(IDS):c.104-16C>G	IDS	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 2917445	NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)	IDS (L454I +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
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 2916888	NM_000202.8(IDS):c.98C>T (p.Thr33Ile)	IDS (T33I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2916826	NM_000202.8(IDS):c.1338C>T (p.Asp446=)	IDS	Single nucleotide variant (synonymous variant)	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 2903875	NM_000202.8(IDS):c.418+17A>G	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 2898618	NM_000202.8(IDS):c.418+20G>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
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 2898095	NM_000202.8(IDS):c.1226C>T (p.Thr409Met)	IDS (T319M +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2898002	NM_000202.8(IDS):c.306G>A (p.Leu102=)	IDS	Single nucleotide variant (synonymous variant +1 more)	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 2887012	NM_000202.8(IDS):c.418+9C>G	IDS	Single nucleotide variant (intron variant)	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 2885203	NM_000202.8(IDS):c.103+14C>T	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2883266	NM_000202.8(IDS):c.1197C>T (p.Asp399=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2883073	NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)	IDS (G451C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2882509	NM_000202.8(IDS):c.1378C>T (p.Leu460=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2881387	NM_000202.8(IDS):c.1371C>G (p.Pro457=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2875897	NM_000202.8(IDS):c.104-17C>T	IDS	Single nucleotide variant (intron variant)	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 2849940	NM_000202.8(IDS):c.222C>T (p.Phe74=)	IDS	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-II	GLikely benign
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 2845955	NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)	IDS (T410A +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
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 2838381	NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)	IDS (Y122D +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2832161	NM_000202.8(IDS):c.1503G>C (p.Val501=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2831312	NM_000202.8(IDS):c.1434C>T (p.Asp478=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2829752	NM_000202.8(IDS):c.1317G>T (p.Leu439=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2828100	NM_000202.8(IDS):c.418+14T>A	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2828045	NM_000202.8(IDS):c.418+8T>C	IDS	Single nucleotide variant (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 2825117	NM_000202.8(IDS):c.241-16T>C	IDS	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 2819187	NM_000202.8(IDS):c.1253T>C (p.Val418Ala)	IDS (V328A +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2819126	NM_000202.8(IDS):c.241-5A>G	IDS	Single nucleotide variant (intron variant)	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 2809961	NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)	IDS (C432F +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2807843	NM_000202.8(IDS):c.388A>G (p.Thr130Ala)	IDS (T130A +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 2797176	NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)	IDS (P329T +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
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 2793441	NM_000202.8(IDS):c.104-19G>A	IDS	Single nucleotide variant (intron variant)	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 2778817	NM_000202.8(IDS):c.1275T>A (p.Pro425=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2771563	NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)	IDS (L310P +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
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 2759066	NM_000202.8(IDS):c.1203G>A (p.Val401=)	IDS	Single nucleotide variant (synonymous 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 2755092	NM_000202.8(IDS):c.240+20G>A	IDS	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 2743261	NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)	IDS (D381N +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2741179	NM_000202.8(IDS):c.1181-14G>A	IDS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-II	GBenign

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