ClinVar for MedGen (Select 88602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244247	NC_000012.11:g.(?_65094311)_(65130836_?)del	GNS	Deletion	Mucopolysaccharidosis, MPS-III-D	GLikely pathogenic
Select item 3244246	NC_000012.11:g.(?_65110521)_(65116913_?)del	GNS	Deletion	Mucopolysaccharidosis, MPS-III-D	GLikely pathogenic
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3064499	NM_002076.4(GNS):c.447A>C (p.Lys149Asn)	GNS (K149N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 3023780	NM_002076.4(GNS):c.252+20C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 3018849	NM_002076.4(GNS):c.60C>T (p.Pro20=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 3018408	NM_002076.4(GNS):c.587G>A (p.Gly196Asp)	GNS (G196D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 3014754	NM_002076.4(GNS):c.192+16C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 3012520	NM_002076.4(GNS):c.849G>A (p.Gln283=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 3009030	NM_002076.4(GNS):c.625-16T>A	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 3008522	NM_002076.4(GNS):c.1371A>C (p.Thr457=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 3003084	NM_002076.4(GNS):c.624+13A>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 3002547	NM_002076.4(GNS):c.666T>C (p.Phe222=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 3002485	NM_002076.4(GNS):c.995-2A>C	GNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-III-D	GLikely pathogenic
Select item 2995845	NM_002076.4(GNS):c.192+7_192+8del	GNS	Microsatellite (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2994702	NM_002076.4(GNS):c.876-19A>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2993078	NM_002076.4(GNS):c.1200+18A>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2992956	NM_002076.4(GNS):c.327T>A (p.Val109=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2985428	NM_002076.4(GNS):c.710C>T (p.Pro237Leu)	GNS (P237L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2982523	NM_002076.4(GNS):c.1377A>G (p.Ser459=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2970194	NM_002076.4(GNS):c.1580+12T>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2968681	NM_002076.4(GNS):c.1200+15C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2962266	NM_002076.4(GNS):c.459+18T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2915955	NM_002076.4(GNS):c.1201-17C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2915071	NM_002076.4(GNS):c.1098+19G>A	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2914084	NM_002076.4(GNS):c.1308+14T>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2912839	NM_002076.4(GNS):c.994+7G>A	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2911632	NM_002076.4(GNS):c.1098+17C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2911379	NM_002076.4(GNS):c.793-15dup	GNS	Duplication (intron variant)	Mucopolysaccharidosis, MPS-III-D	GBenign
Select item 2911133	NM_002076.4(GNS):c.1200+11C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2911075	NM_002076.4(GNS):c.192+15T>A	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2901050	NM_002076.4(GNS):c.1110C>T (p.Ala370=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2899894	NM_002076.4(GNS):c.253-17C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2897704	NM_002076.4(GNS):c.625-11T>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2897693	NM_002076.4(GNS):c.525+12T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2897690	NM_002076.4(GNS):c.1309-15G>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2894216	NM_002076.4(GNS):c.1309-20C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2893406	NM_002076.4(GNS):c.1099-19T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2885888	NM_002076.4(GNS):c.1102C>T (p.Leu368=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2883210	NM_002076.4(GNS):c.875+11C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2883183	NM_002076.4(GNS):c.1201-12T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2882681	NM_002076.4(GNS):c.1420-19A>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2882065	NM_002076.4(GNS):c.1419+7G>A	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2881050	NM_002076.4(GNS):c.460-5T>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2877476	NM_002076.4(GNS):c.1131T>C (p.Thr377=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2874772	NM_002076.4(GNS):c.672C>T (p.Pro224=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2867529	NM_002076.4(GNS):c.624+14G>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2865350	NM_002076.4(GNS):c.393T>A (p.Thr131=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2860918	NM_002076.4(GNS):c.459+11_459+14del	GNS	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2858558	NM_002076.4(GNS):c.1200+15C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2852783	NM_002076.4(GNS):c.253-15del	GNS	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2849417	NM_002076.4(GNS):c.882A>C (p.Gln294His)	GNS (Q294H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2848488	NM_002076.4(GNS):c.1580+13T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2847950	NM_002076.4(GNS):c.1068A>G (p.Gly356=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2847880	NM_002076.4(GNS):c.975A>G (p.Ser325=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2847762	NM_002076.4(GNS):c.183C>G (p.Leu61=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2846610	NM_002076.4(GNS):c.526-16T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2845260	NM_002076.4(GNS):c.875+17C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2845061	NM_002076.4(GNS):c.875+7GCT[4]	GNS	Microsatellite (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2843121	NM_002076.4(GNS):c.937dup (p.Thr313fs)	GNS (T313fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2839856	NM_002076.4(GNS):c.153G>C (p.Leu51=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2837653	NM_002076.4(GNS):c.460-20C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2835361	NM_002076.4(GNS):c.1122G>A (p.Leu374=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2833929	NM_002076.4(GNS):c.1201-13C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2829148	NM_002076.4(GNS):c.1420-16C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2828699	NM_002076.4(GNS):c.393T>G (p.Thr131=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2828156	NM_002076.4(GNS):c.253-5T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2828112	NM_002076.4(GNS):c.345G>A (p.Glu115=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2825520	NM_002076.4(GNS):c.959dup (p.Tyr320Ter)	GNS (Y320*)	Duplication (nonsense)	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2825435	NM_002076.4(GNS):c.400del (p.Ala134fs)	GNS (A134fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2822019	NM_002076.4(GNS):c.717A>T (p.Thr239=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2820534	NM_002076.4(GNS):c.270C>T (p.Leu90=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2815913	NM_002076.4(GNS):c.96C>A (p.Gly32=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2813749	NM_002076.4(GNS):c.49dup (p.Arg17fs)	GNS (R17fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2810876	NM_002076.4(GNS):c.193-7T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2809397	NM_002076.4(GNS):c.1245A>G (p.Glu415=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2808150	NM_002076.4(GNS):c.1581-15G>A	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2805301	NM_002076.4(GNS):c.738G>A (p.Lys246=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2804310	NM_002076.4(GNS):c.1578C>G (p.Pro526=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2802090	NM_002076.4(GNS):c.792+13A>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2799728	NM_002076.4(GNS):c.1503A>C (p.Gly501=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2799497	NM_002076.4(GNS):c.798G>A (p.Lys266=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2798999	NM_002076.4(GNS):c.1308+15del	GNS	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2794860	NM_002076.4(GNS):c.413C>A (p.Ser138Ter)	GNS (S138*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2793701	NM_002076.4(GNS):c.193-15T>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2791711	NM_002076.4(GNS):c.294C>T (p.Ile98=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2789708	NM_002076.4(GNS):c.348G>A (p.Gly116=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2788867	NM_002076.4(GNS):c.921C>G (p.Val307=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2788287	NM_002076.4(GNS):c.162G>C (p.Thr54=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2787401	NM_002076.4(GNS):c.793-11C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2783646	NM_002076.4(GNS):c.675C>T (p.Phe225=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2776151	NM_002076.4(GNS):c.792+12C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2772076	NM_002076.4(GNS):c.78G>A (p.Leu26=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2771931	NM_002076.4(GNS):c.624+11G>A	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2771637	NM_002076.4(GNS):c.1375T>G (p.Ser459Ala)	GNS (S459A)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2769464	NM_002076.4(GNS):c.82C>T (p.Leu28=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2769422	NM_002076.4(GNS):c.460-20C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2768863	NM_002076.4(GNS):c.995-19T>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2768399	NM_002076.4(GNS):c.460-17C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2767931	NM_002076.4(GNS):c.276C>T (p.Cys92=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign

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