ClinVar for MedGen (Select 44514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4081190	NM_000046.5(ARSB):c.174del (p.Asn58fs)	ARSB, LOC129994126 (N58fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 4078020	NM_000046.5(ARSB):c.434A>G (p.Lys145Arg)	ARSB (K145R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061491	NM_000046.5(ARSB):c.1374T>G (p.Asn458Lys)	ARSB (N458K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061473	NM_000046.5(ARSB):c.1410G>T (p.Lys470Asn)	ARSB (K470N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061467	NM_000046.5(ARSB):c.1109C>T (p.Pro370Leu)	ARSB (P370L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061459	NM_000046.5(ARSB):c.720T>A (p.Ser240=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061450	NM_000046.5(ARSB):c.960C>A (p.Ser320Arg)	ARSB (S320R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 4061442	NM_000046.5(ARSB):c.873C>G (p.Asn291Lys)	ARSB (N291K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061434	NM_000046.5(ARSB):c.401A>C (p.Lys134Thr)	ARSB (K134T)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061413	NM_000046.5(ARSB):c.1504C>A (p.Leu502Ile)	ARSB (L502I)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061406	NM_000046.5(ARSB):c.649A>G (p.Lys217Glu)	ARSB (K217E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061397	NM_000046.5(ARSB):c.492C>G (p.Thr164=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061377	NM_000046.5(ARSB):c.136C>A (p.His46Asn)	ARSB, LOC129994126 (H46N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061369	NM_000046.5(ARSB):c.898+5G>A	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061363	NM_000046.5(ARSB):c.187C>T (p.His63Tyr)	ARSB, LOC129994126 (H63Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061355	NM_000046.5(ARSB):c.497T>C (p.Phe166Ser)	ARSB (F166S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061337	NM_000046.5(ARSB):c.671C>T (p.Thr224Ile)	ARSB (T224I)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061320	NM_000046.5(ARSB):c.1227C>T (p.Ser409=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061312	NM_000046.5(ARSB):c.270G>C (p.Leu90=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061302	NM_000046.5(ARSB):c.253T>G (p.Tyr85Asp)	ARSB, LOC129994126 (Y85D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061293	NM_000046.5(ARSB):c.113G>A (p.Gly38Asp)	ARSB, LOC129994126 (G38D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061287	NM_000046.5(ARSB):c.1336+2_1336+3dup	ARSB	Duplication (splice donor variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061278	NM_000046.5(ARSB):c.976G>C (p.Val326Leu)	ARSB (V326L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061268	NM_000046.5(ARSB):c.830T>G (p.Val277Gly)	ARSB (V277G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061249	NM_000046.5(ARSB):c.760C>T (p.Pro254Ser)	ARSB (P254S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061231	NM_000046.5(ARSB):c.949A>G (p.Arg317Gly)	ARSB (R317G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061220	NM_000046.5(ARSB):c.985G>A (p.Val329Met)	ARSB (V329M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061212	NM_000046.5(ARSB):c.933C>G (p.Asn311Lys)	ARSB (N311K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061202	NM_000046.5(ARSB):c.1438G>T (p.Asp480Tyr)	ARSB (D480Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061187	NM_000046.5(ARSB):c.120G>C (p.Gly40=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061178	NM_000046.5(ARSB):c.127C>T (p.Arg43Trp)	ARSB, LOC129994126 (R43W)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061160	NM_000046.5(ARSB):c.457A>G (p.Lys153Glu)	ARSB (K153E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061139	NM_000046.5(ARSB):c.298A>C (p.Thr100Pro)	ARSB, LOC129994126 (T100P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061132	NM_000046.5(ARSB):c.1329C>T (p.Gly443=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061121	NM_000046.5(ARSB):c.190G>A (p.Gly64Ser)	ARSB, LOC129994126 (G64S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 4061104	NM_000046.5(ARSB):c.818T>G (p.Met273Arg)	ARSB (M273R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 3893236	NM_000046.5(ARSB):c.235G>A (p.Gly79Arg)	ARSB, LOC129994126 (G79R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 3730035	NM_000046.5(ARSB):c.1143-11T>C	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3720627	NM_000046.5(ARSB):c.310C>A (p.Gln104Lys)	ARSB, LOC129994126 (Q104K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GUncertain significance
Select item 3707005	NM_000046.5(ARSB):c.217G>A (p.Asp73Asn)	ARSB, LOC129994126 (D73N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 3702506	NM_000046.5(ARSB):c.1142+17C>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3696089	NM_000046.5(ARSB):c.132G>A (p.Pro44=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3693946	NM_000046.5(ARSB):c.1251T>A (p.Ser417=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3688166	NM_000046.5(ARSB):c.440A>T (p.His147Leu)	ARSB (H147L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3687423	NM_000046.5(ARSB):c.499+9A>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3659689	NM_000046.5(ARSB):c.817A>T (p.Met273Leu)	ARSB (M273L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 3659543	NM_000046.5(ARSB):c.245T>A (p.Leu82Gln)	ARSB, LOC129994126 (L82Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 3657585	NM_000046.5(ARSB):c.1398C>T (p.Asp466=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3649558	NM_000046.5(ARSB):c.246G>C (p.Leu82=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3647356	NM_000046.5(ARSB):c.1293T>C (p.Ala431=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3646973	NM_000046.5(ARSB):c.57C>G (p.Leu19=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3646762	NM_000046.5(ARSB):c.909G>T (p.Gly303=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3643242	NM_000046.5(ARSB):c.543del (p.Arg180_Cys181insTer)	ARSB	Deletion (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 3641564	NM_000046.5(ARSB):c.312+7G>C	ARSB, LOC129994126	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3637387	NM_000046.5(ARSB):c.576T>C (p.Cys192=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3624764	NM_000046.5(ARSB):c.499+10dup	ARSB	Duplication (intron variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3622267	NM_000046.5(ARSB):c.230C>T (p.Ala77Val)	ARSB, LOC129994126 (A77V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 3618272	NM_000046.5(ARSB):c.1415T>G (p.Leu472Arg)	ARSB (L472R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 3618265	NM_000046.5(ARSB):c.79C>T (p.Leu27=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3616291	NM_000046.5(ARSB):c.1269A>G (p.Ser423=)	ARSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GLikely benign
Select item 3615712	NM_000046.5(ARSB):c.548T>A (p.Leu183Ter)	ARSB (L183*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 3605151	NM_000046.5(ARSB):c.1350G>T (p.Trp450Cys)	ARSB (W450C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 3592775	NM_000046.5(ARSB):c.107_129del (p.Gly36fs)	ARSB, LOC129994126 (G36fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3592774	NM_000046.5(ARSB):c.405del (p.Ala136fs)	ARSB (A136fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3592773	NM_000046.5(ARSB):c.500-2A>G	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3592772	NM_000046.5(ARSB):c.791_798dup (p.Ala267fs)	ARSB (A267fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3592771	NM_000046.5(ARSB):c.1054G>A (p.Asp352Asn)	ARSB (D352N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3592770	NM_000046.5(ARSB):c.1143-2A>T	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3592769	NM_000046.5(ARSB):c.1268C>A (p.Ser423Ter)	ARSB (S423*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3391172	NM_000046.5(ARSB):c.908G>T (p.Gly303Val)	ARSB (G303V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3385269	NM_000046.5(ARSB):c.904G>C (p.Gly302Arg)	ARSB (G302R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 3370356	NM_000046.5(ARSB):c.1021_1022insT (p.Gly341fs)	ARSB (G341fs)	Insertion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 3362370	NM_000046.5(ARSB):c.8C>T (p.Pro3Leu)	ARSB, LOC129994126 (P3L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GUncertain significance
Select item 3251384	NM_000046.5(ARSB):c.1072G>T (p.Val358Leu)	ARSB (V358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246279	NC_000005.9:g.(?_78251098)_(78251345_?)dup	ARSB	Duplication	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3246278	NC_000005.9:g.(?_78076220)_(78077817_?)del	ARSB	Deletion	Mucopolysaccharidosis type 6	GPathogenic
Select item 3246276	NC_000005.9:g.(?_78251098)_(78265035_?)del	ARSB	Deletion	Mucopolysaccharidosis type 6	GPathogenic
Select item 3246275	NC_000005.9:g.(?_78181387)_(78181670_?)del	ARSB	Deletion	Mucopolysaccharidosis type 6	GPathogenic
Select item 3246274	NC_000005.9:g.(?_78280740)_(78281071_?)del	ARSB	Deletion	Mucopolysaccharidosis type 6	GPathogenic
Select item 3246273	NC_000005.9:g.(?_78076220)_(78281071_?)del	ARSB	Deletion	Mucopolysaccharidosis type 6	GPathogenic
Select item 3240434	NM_000046.5(ARSB):c.612del (p.Gly205fs)	ARSB (G205fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3240431	NM_000046.5(ARSB):c.511_512delinsA (p.Gly171fs)	ARSB (G171fs)	Indel (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3240405	NM_000046.5(ARSB):c.215_230delinsAGGAG (p.Leu72fs)	ARSB, LOC129994126 (L72fs)	Indel (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 3240380	NM_000046.5(ARSB):c.785del (p.Asn262fs)	ARSB (N262fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 3240372	NM_000046.5(ARSB):c.896del (p.Thr299fs)	ARSB (T299fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
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

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