ClinVar for MedGen (Select 44514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068073	NM_000046.5(ARSB):c.269T>C (p.Leu90Pro)	ARSB, LOC129994126 (L90P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3021668	NM_000046.5(ARSB):c.1214-1G>A	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3021137	NM_000046.5(ARSB):c.861T>C (p.Ser287=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3020540	NM_000046.5(ARSB):c.615A>G (p.Gly205=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3018183	NM_000046.5(ARSB):c.691-4C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3016604	NM_000046.5(ARSB):c.1337-19_1337-18del	ARSB	Deletion (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3015401	NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)	ARSB (E135*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 3013992	NM_000046.5(ARSB):c.1214-12A>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3013577	NM_000046.5(ARSB):c.312+11C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3013374	NM_000046.5(ARSB):c.499+13C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3012103	NM_000046.5(ARSB):c.899-4dup	ARSB	Duplication (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3011655	NM_000046.5(ARSB):c.500-11C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3010218	NM_000046.5(ARSB):c.1422C>T (p.Leu474=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3005057	NM_000046.5(ARSB):c.813C>T (p.Ser271=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3004233	NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)	ARSB (G108D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2999847	NM_000046.5(ARSB):c.499+13C>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2995282	NM_000046.5(ARSB):c.1305T>C (p.His435=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2994037	NM_000046.5(ARSB):c.18G>A (p.Ala6=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2991886	NM_000046.5(ARSB):c.313-19T>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2991248	NM_000046.5(ARSB):c.1281A>G (p.Thr427=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2989463	NM_000046.5(ARSB):c.390C>G (p.Pro130=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2983581	NM_000046.5(ARSB):c.1071C>A (p.Leu357=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2982349	NM_000046.5(ARSB):c.1356T>C (p.Pro452=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2980606	NM_000046.5(ARSB):c.1545T>G (p.Pro515=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2980445	NM_000046.5(ARSB):c.1336+18G>A	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2974536	NM_000046.5(ARSB):c.244C>T (p.Leu82=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2974285	NM_000046.5(ARSB):c.500-17G>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2973115	NM_000046.5(ARSB):c.690+15T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2969278	NM_000046.5(ARSB):c.534T>G (p.His178Gln)	ARSB (H178Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2959872	NM_000046.5(ARSB):c.1214-14C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2958181	NM_000046.5(ARSB):c.313-16T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2919993	NM_000046.5(ARSB):c.1170G>A (p.Glu390=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2918633	NM_000046.5(ARSB):c.313-11A>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2916954	NM_000046.5(ARSB):c.898+14T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2915931	NM_000046.5(ARSB):c.312+14C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2915583	NM_000046.5(ARSB):c.1337-15del	ARSB	Deletion (intron variant)	Mucopolysaccharidosis type 6	GBenign
Select item 2911861	NM_000046.5(ARSB):c.9G>A (p.Pro3=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2908270	NM_000046.5(ARSB):c.1005C>T (p.Pro335=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2907331	NM_000046.5(ARSB):c.1214-17A>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2907217	NM_000046.5(ARSB):c.1213+18G>A	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2905001	NM_000046.5(ARSB):c.690+9T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2902296	NM_000046.5(ARSB):c.1213+15A>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2899927	NM_000046.5(ARSB):c.1214-12dup	ARSB	Duplication (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2899725	NM_000046.5(ARSB):c.899-17A>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2898654	NM_000046.5(ARSB):c.1142+14G>A	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2898154	NM_000046.5(ARSB):c.500-18C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2896994	NM_000046.5(ARSB):c.234C>G (p.Gly78=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2893665	NM_000046.5(ARSB):c.691-20T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2893626	NM_000046.5(ARSB):c.312+18C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2893296	NM_000046.5(ARSB):c.1142+11C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2892860	NM_000046.5(ARSB):c.499+16A>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2891657	NM_000046.5(ARSB):c.357C>T (p.Pro119=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2886372	NM_000046.5(ARSB):c.689A>G (p.Lys230Arg)	ARSB (K230R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 2884435	NM_000046.5(ARSB):c.1337-16T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2880285	NM_000046.5(ARSB):c.1428T>C (p.Asp476=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2878069	NM_000046.5(ARSB):c.223del (p.Leu75fs)	ARSB, LOC129994126 (L75fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2876618	NM_000046.5(ARSB):c.1506A>G (p.Leu502=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2872848	NM_000046.5(ARSB):c.1214-4C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2872299	NM_000046.5(ARSB):c.1368A>G (p.Gln456=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2871031	NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)	ARSB (G167R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 2869737	NM_000046.5(ARSB):c.898+10T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2865627	NM_000046.5(ARSB):c.1488A>T (p.Thr496=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2860098	NM_000046.5(ARSB):c.499+15C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2860025	NM_000046.5(ARSB):c.1320C>T (p.Leu440=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2859222	NM_000046.5(ARSB):c.432A>G (p.Gly144=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2846011	NM_000046.5(ARSB):c.1206T>C (p.Ser402=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2829531	NM_000046.5(ARSB):c.691-7T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2828137	NM_000046.5(ARSB):c.899-9G>A	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2828060	NM_000046.5(ARSB):c.312+14_312+18del	ARSB, LOC129994126	Deletion (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2827066	NM_000046.5(ARSB):c.898+9G>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2826271	NM_000046.5(ARSB):c.159C>T (p.Asp53=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2825458	NM_000046.5(ARSB):c.180C>T (p.Val60=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2821364	NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)	ARSB (Q239*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2821220	NM_000046.5(ARSB):c.141G>C (p.Leu47=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2813252	NM_000046.5(ARSB):c.312+15C>G	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2813085	NM_000046.5(ARSB):c.195C>A (p.Ser65=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2809136	NM_000046.5(ARSB):c.582T>G (p.Leu194=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2806662	NM_000046.5(ARSB):c.31C>T (p.Arg11Ter)	ARSB, LOC129994126 (R11*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2806200	NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)	ARSB (L321Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2805988	NM_000046.5(ARSB):c.657T>C (p.Ala219=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2804141	NM_000046.5(ARSB):c.312+8_312+16dup	ARSB, LOC129994126	Duplication (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2799498	NM_000046.5(ARSB):c.1209A>G (p.Ser403=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2798356	NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)	ARSB, LOC129994126 (G56S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2796415	NM_000046.5(ARSB):c.1336+8C>T	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2796227	NM_000046.5(ARSB):c.63C>T (p.Pro21=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2794737	NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)	ARSB (I184T)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2792640	NM_000046.5(ARSB):c.30C>G (p.Pro10=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2785521	NM_000046.5(ARSB):c.1433del (p.Asp478fs)	ARSB (D478fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2782970	NM_000046.5(ARSB):c.306C>G (p.Arg102=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2781760	NM_000046.5(ARSB):c.21G>C (p.Ala7=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2779965	NM_000046.5(ARSB):c.559C>T (p.Leu187=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2779789	NM_000046.5(ARSB):c.1161C>A (p.Pro387=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2775703	NM_000046.5(ARSB):c.48G>A (p.Arg16=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2769854	NM_000046.5(ARSB):c.180C>A (p.Val60=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2762295	NM_000046.5(ARSB):c.147C>T (p.Phe49=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2757987	NM_000046.5(ARSB):c.1161C>T (p.Pro387=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2754848	NM_000046.5(ARSB):c.1337-7T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2754162	NM_000046.5(ARSB):c.417T>C (p.Thr139=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2754155	NM_000046.5(ARSB):c.1533del (p.Val512fs)	ARSB (V512fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2749283	NM_000046.5(ARSB):c.336A>G (p.Gln112=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign

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