"Revvity Omics, Revvity"[submitter] AND "ARSB"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559729	NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)	ARSB	Single nucleotide variant (stop lost)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 189224	NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)	ARSB (R484G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 1323934	NM_000046.5(ARSB):c.1381G>T (p.Glu461Ter)	ARSB (E461*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 880	NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	ARSB (C405Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +2 more	GPathogenic/Likely pathogenic
Select item 1323935	NM_000046.5(ARSB):c.1208C>A (p.Ser403Ter)	ARSB (S403*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2439210	NM_000046.5(ARSB):c.1143-22011C>A	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 1119711	NM_000046.5(ARSB):c.1122C>T (p.Phe374=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 2080128	NM_000046.5(ARSB):c.1024G>A (p.Val342Met)	ARSB (V342M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559664	NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)	ARSB (S334I)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 2688608	NM_000046.5(ARSB):c.980G>A (p.Arg327Gln)	ARSB (R327Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 430162	NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)	ARSB (S320R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 559825	NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)	ARSB (G308E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 833527	NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)	ARSB (T305I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1448834	NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)	ARSB (G302P)	Inversion (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 488822	NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)	ARSB (Y251*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 559803	NM_000046.5(ARSB):c.667A>G (p.Ile223Val)	ARSB (I223V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 885	NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	ARSB (Y210C)	Single nucleotide variant (missense variant)	ARSB-related disorder +3 more	GPathogenic
Select item 2414076	NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)	ARSB (R180C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 2049881	NM_000046.5(ARSB):c.523T>C (p.Tyr175His)	ARSB (Y175H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GUncertain significance
Select item 496789	NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)	ARSB (R152W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 559788	NM_000046.5(ARSB):c.440A>C (p.His147Pro)	ARSB (H147P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 1323937	NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)	ARSB (W115*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 1323936	NM_000046.5(ARSB):c.300_312+18del	ARSB, LOC129994126	Deletion (splice donor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2688607	NM_000046.5(ARSB):c.271T>G (p.Cys91Gly)	ARSB, LOC129994126 (C91G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 1323467	NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)	ARSB, LOC129994126 (Y86del)	Microsatellite (inframe_deletion)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559740	NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	ARSB, LOC129994126 (L72R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 1396069	NM_000046.5(ARSB):c.176A>G (p.Asp59Gly)	ARSB, LOC129994126 (D59G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 2439209	NM_000046.5(ARSB):c.76CTG[7] (p.Leu32_Ala33insLeuLeu)	ARSB, LOC129994126	Microsatellite (inframe_insertion)	Mucopolysaccharidosis type 6	GUncertain significance

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Items: 28