ARSB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 369509	NM_000046.3(ARSB):c.*3195A>G	ARSB	Single nucleotide variant	Mucopolysaccharidosis type 6	GLikely benign
Select item 354257	NM_000046.5(ARSB):c.*3181T>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354256	NM_000046.5(ARSB):c.*3181T>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GBenign
Select item 354258	NM_000046.5(ARSB):c.*3174T>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354259	NM_000046.5(ARSB):c.*3163T>C	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354260	NM_000046.5(ARSB):c.*3152A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 906617	NM_000046.5(ARSB):c.*3147G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354261	NM_000046.5(ARSB):c.*3047T>C	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354262	NM_000046.5(ARSB):c.*2975G>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GBenign
Select item 354263	NM_000046.5(ARSB):c.*2859T>C	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GBenign
Select item 906618	NM_000046.5(ARSB):c.*2831T>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 907640	NM_000046.5(ARSB):c.*2784C>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354264	NM_000046.5(ARSB):c.*2708G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354265	NM_000046.5(ARSB):c.*2707C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 907641	NM_000046.5(ARSB):c.*2684G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 907642	NM_000046.5(ARSB):c.*2680C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354266	NM_000046.5(ARSB):c.*2672A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 907643	NM_000046.5(ARSB):c.*2654A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GBenign
Select item 354267	NM_000046.5(ARSB):c.2637_2639dup	ARSB	Duplication (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354268	NM_000046.5(ARSB):c.*2608G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904307	NM_000046.5(ARSB):c.*2593T>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354269	NM_000046.5(ARSB):c.*2578A>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904308	NM_000046.5(ARSB):c.*2571A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904309	NM_000046.5(ARSB):c.*2559G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354270	NM_000046.5(ARSB):c.2543_2545dup	ARSB	Duplication (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904310	NM_000046.5(ARSB):c.*2526T>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904311	NM_000046.5(ARSB):c.*2525A>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904312	NM_000046.5(ARSB):c.*2524A>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904313	NM_000046.5(ARSB):c.*2408A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354271	NM_000046.5(ARSB):c.*2287C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 905104	NM_000046.5(ARSB):c.*2251G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354272	NM_000046.5(ARSB):c.*2243A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 905105	NM_000046.5(ARSB):c.*2164T>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 905106	NM_000046.5(ARSB):c.*2158C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 905107	NM_000046.5(ARSB):c.*2155C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 905108	NM_000046.5(ARSB):c.*2092A>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354273	NM_000046.5(ARSB):c.*2080G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354274	NM_000046.5(ARSB):c.*2022T>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GBenign
Select item 354275	NM_000046.5(ARSB):c.*2013G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354276	NM_000046.5(ARSB):c.*1989C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 906688	NM_000046.5(ARSB):c.*1951A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354277	NM_000046.5(ARSB):c.*1899dup	ARSB	Duplication (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354278	NM_000046.5(ARSB):c.*1729del	ARSB	Deletion (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 906689	NM_000046.5(ARSB):c.*1635G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 354279	NM_000046.5(ARSB):c.*1610G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 906690	NM_000046.5(ARSB):c.*1594C>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354280	NM_000046.5(ARSB):c.*1539dup	ARSB	Duplication (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354281	NM_000046.5(ARSB):c.*1513C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354282	NM_000046.5(ARSB):c.*1499C>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354283	NM_000046.5(ARSB):c.*1469C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GBenign
Select item 907716	NM_000046.5(ARSB):c.*1420G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354284	NM_000046.5(ARSB):c.*1387C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 907717	NM_000046.5(ARSB):c.*1373A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354285	NM_000046.5(ARSB):c.*1372dup	ARSB	Duplication (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354286	NM_000046.5(ARSB):c.*1360T>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 907718	NM_000046.5(ARSB):c.*1326G>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354287	NM_000046.5(ARSB):c.*1302G>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GBenign
Select item 354288	NM_000046.5(ARSB):c.*1286C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354289	NM_000046.5(ARSB):c.*1276C>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354290	NM_000046.5(ARSB):c.*1257A>C	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GBenign
Select item 354291	NM_000046.5(ARSB):c.*1169T>C	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904374	NM_000046.5(ARSB):c.*1153C>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354292	NM_000046.5(ARSB):c.*1147G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904375	NM_000046.5(ARSB):c.*1146G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 904376	NM_000046.5(ARSB):c.*994C>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354293	NM_000046.5(ARSB):c.*990C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 905172	NM_000046.5(ARSB):c.*965A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 905173	NM_000046.5(ARSB):c.*933C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 905174	NM_000046.5(ARSB):c.*922C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354294	NM_000046.5(ARSB):c.*810C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354295	NM_000046.5(ARSB):c.*793T>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354296	NM_000046.5(ARSB):c.*635C>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354297	NM_000046.5(ARSB):c.*619G>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354298	NM_000046.5(ARSB):c.*618C>T	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354299	NM_000046.5(ARSB):c.*608G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 906769	NM_000046.5(ARSB):c.*420A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 906770	NM_000046.5(ARSB):c.*384T>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 906771	NM_000046.5(ARSB):c.*340A>C	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354300	NM_000046.5(ARSB):c.*212A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354301	NM_000046.5(ARSB):c.*202A>G	ARSB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 906772	NM_000046.5(ARSB):c.*166G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 354302	NM_000046.5(ARSB):c.*60G>A	ARSB	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis type 6 +1 more	GBenign/Likely benign
Select item 854092	NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)	ARSB	Single nucleotide variant (stop lost)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559729	NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)	ARSB	Single nucleotide variant (stop lost)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559728	NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln)	ARSB	Single nucleotide variant (stop lost)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559726	NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del)	ARSB	Deletion (inframe_deletion)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 2429143	NM_000046.5(ARSB):c.1595G>A (p.Trp532Ter)	ARSB (W532*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 559727	NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg)	ARSB (P531R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 730791	NM_000046.5(ARSB):c.1590C>A (p.Gly530=)	ARSB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1125619	NM_000046.5(ARSB):c.1584G>A (p.Val528=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1999227	NM_000046.5(ARSB):c.1581G>C (p.Gly527=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 1095812	NM_000046.5(ARSB):c.1578T>C (p.Thr526=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559724	NM_000046.5(ARSB):c.1577del (p.Thr526fs)	ARSB (T526fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1139896	NM_000046.5(ARSB):c.1575C>A (p.Ala525=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 559723	NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr)	ARSB (C521Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 1091220	NM_000046.5(ARSB):c.1560C>T (p.Arg520=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 2678539	NM_000046.5(ARSB):c.1558dup (p.Arg520fs)	ARSB (R520fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2244359	NM_000046.5(ARSB):c.1559G>A (p.Arg520His)	ARSB (R520H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2162888	NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys)	ARSB (R520C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance

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