"Baylor Genetics"[submitter] AND "ARSB"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559724	NM_000046.5(ARSB):c.1577del (p.Thr526fs)	ARSB (T526fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 2678539	NM_000046.5(ARSB):c.1558dup (p.Arg520fs)	ARSB (R520fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559721	NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)	ARSB (V512fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2161808	NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)	ARSB (Y513*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559722	NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter)	ARSB (Y513*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559719	NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)	ARSB (Q503*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559717	NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)	ARSB (L498P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 418018	NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)	ARSB (E483D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 559709	NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)	ARSB (Q456*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559708	NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)	ARSB (W450C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 559705	NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)	ARSB (C447S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 2678397	NM_000046.5(ARSB):c.1337-1G>C	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559702	NM_000046.5(ARSB):c.1336+2T>G	ARSB	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 1382456	NM_000046.5(ARSB):c.1336+1G>A	ARSB	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 379809	NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)	ARSB (T442M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
Select item 2678514	NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)	ARSB (W438*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 852181	NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)	ARSB (R434*)	Duplication (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 880	NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	ARSB (C405Y)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 861786	NM_000046.5(ARSB):c.1214-2A>T	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559688	NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)	ARSB (F399L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559686	NM_000046.5(ARSB):c.1178A>G (p.His393Arg)	ARSB (H393R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 886	NM_000046.5(ARSB):c.1178A>C (p.His393Pro)	ARSB (H393P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 2678364	NM_000046.5(ARSB):c.1143-1G>A	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 887	NM_000046.5(ARSB):c.1143-1G>C	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559678	NM_000046.5(ARSB):c.1142+1G>T	ARSB	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2678595	NM_000046.5(ARSB):c.1088del (p.Gly363fs)	ARSB (G363fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2091122	NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)	ARSB (L354fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559669	NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)	ARSB (S351F)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GLikely pathogenic
Select item 2678570	NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)	ARSB (G328R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559832	NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)	ARSB (R327*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 92356	NM_000046.5(ARSB):c.971G>T (p.Gly324Val)	ARSB (G324V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 559830	NM_000046.5(ARSB):c.962T>C (p.Leu321Pro)	ARSB (L321P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
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 166694	NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)	ARSB (R315Q)	Single nucleotide variant (missense variant)	ARSB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 559828	NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)	ARSB (R315*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559827	NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)	ARSB (P313S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 549491	NM_000046.5(ARSB):c.936G>T (p.Trp312Cys)	ARSB (W312C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559823	NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)	ARSB (G303E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 1448834	NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)	ARSB (G302P)	Inversion (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559822	NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)	ARSB (G302R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559819	NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)	ARSB (D300E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 2678458	NM_000046.5(ARSB):c.898+1G>T	ARSB	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 1209659	NM_000046.5(ARSB):c.898+1G>A	ARSB	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 3240372	NM_000046.5(ARSB):c.896del (p.Thr299fs)	ARSB (T299fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 644772	NM_000046.5(ARSB):c.823G>T (p.Glu275Ter)	ARSB (E275*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559814	NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)	ARSB (Y266S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2678495	NM_000046.5(ARSB):c.789del (p.Arg263fs)	ARSB (R263fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559813	NM_000046.5(ARSB):c.785dup (p.Asn262fs)	ARSB (N262fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6 +1 more	GLikely pathogenic
Select item 3240380	NM_000046.5(ARSB):c.785del (p.Asn262fs)	ARSB (N262fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 488822	NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)	ARSB (Y251*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 882	NM_000046.5(ARSB):c.743del (p.Pro248fs)	ARSB (P248fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 3240391	NM_000046.5(ARSB):c.696_697insGA (p.Phe233fs)	ARSB (F233fs)	Insertion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 2678440	NM_000046.5(ARSB):c.694_695del (p.Leu232fs)	ARSB (L232fs)	Microsatellite (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559804	NM_000046.5(ARSB):c.691-1G>A	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 2678550	NM_000046.5(ARSB):c.690+2T>C	ARSB	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
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 2678433	NM_000046.5(ARSB):c.659del (p.Ile220fs)	ARSB (I220fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 885	NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	ARSB (Y210C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +2 more	GPathogenic
Select item 3240434	NM_000046.5(ARSB):c.612del (p.Gly205fs)	ARSB (G205fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559799	NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)	ARSB (R197*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 488679	NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)	ARSB (R191*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 3240431	NM_000046.5(ARSB):c.511_512delinsA (p.Gly171fs)	ARSB (G171fs)	Indel (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559792	NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)	ARSB (G167R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 445292	NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)	ARSB (R160Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 445291	NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)	ARSB (R160*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 800876	NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)	ARSB (R152Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
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 559787	NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)	ARSB (W146*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559783	NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)	ARSB (G144R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559782	NM_000046.5(ARSB):c.427del (p.Val143fs)	ARSB (V143fs)	Deletion (frameshift variant)	Metachromatic leukodystrophy +1 more	GPathogenic
Select item 878	NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)	ARSB (C117R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559770	NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)	ARSB (Q110*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559769	NM_000046.5(ARSB):c.323G>T (p.Gly108Val)	ARSB (G108V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 2503905	NM_000046.5(ARSB):c.312+2T>G	ARSB, LOC129994126	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559768	NM_000046.5(ARSB):c.312G>C (p.Gln104His)	ARSB, LOC129994126 (Q104H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559766	NM_000046.5(ARSB):c.305G>A (p.Arg102His)	ARSB, LOC129994126 (R102H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 559758	NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)	ARSB, LOC129994126 (T92K)	Single nucleotide variant (missense variant)	ARSB-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 559752	NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)	ARSB, LOC129994126 (Q88*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 445290	NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	ARSB, LOC129994126 (L82R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559744	NM_000046.5(ARSB):c.237_243del (p.Val80fs)	ARSB, LOC129994126 (V80fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559743	NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)	ARSB, LOC129994126 (G79E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 3240405	NM_000046.5(ARSB):c.215_230delinsAGGAG (p.Leu72fs)	ARSB, LOC129994126 (L72fs)	Indel (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
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 559737	NM_000046.5(ARSB):c.207_213dup (p.Leu72fs)	ARSB, LOC129994126 (L72fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 1071912	NM_000046.5(ARSB):c.173del (p.Asn58fs)	ARSB, LOC129994126 (N58fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559732	NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)	ARSB, LOC129994126 (W57C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559725	NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)	ARSB, LOC129994126 (D53N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 453065	NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	LOC129994126, ARSB (L47fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92353	NM_000046.5(ARSB):c.118_134del (p.Gly40fs)	ARSB, LOC129994126 (G40fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
Select item 1074870	NM_000046.5(ARSB):c.121dup (p.Ala41fs)	LOC129994126, ARSB (A41fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559673	NM_000046.5(ARSB):c.108_120del (p.Ser37fs)	ARSB, LOC129994126 (S37fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 1070404	NM_000046.5(ARSB):c.113del (p.Gly38fs)	ARSB, LOC129994126 (G38fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic

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Items: 92