C0086648[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554127	NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup)	LOC130060903, NAGLU	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 553224	NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)	LOC130060903, NAGLU (M1T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 551575	NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)	LOC130060903, NAGLU (E2*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 554211	NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)	LOC130060903, NAGLU	Duplication (inframe_insertion)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 557298	NM_000263.4(NAGLU):c.13_16del (p.Ala5fs)	LOC130060903, NAGLU (A5fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 557147	NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del)	LOC130060903, NAGLU	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 558113	NM_000263.4(NAGLU):c.82del (p.Glu28fs)	LOC130060903, NAGLU (E28fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 555776	NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)	LOC130060903, NAGLU (F48L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555495	NM_000263.4(NAGLU):c.193del (p.Tyr65fs)	LOC130060903, NAGLU (Y65fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 557851	NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)	LOC130060903, NAGLU	Microsatellite (inframe_insertion)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 551933	NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)	LOC130060903, NAGLU	Insertion (inframe_insertion)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 557699	NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg)	LOC130060903, NAGLU (G70R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 556349	NM_000263.4(NAGLU):c.217_221dup (p.Val75fs)	LOC130060903, NAGLU (V75fs)	Microsatellite (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 554876	NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)	LOC130060903, NAGLU (R74fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 554243	NM_000263.4(NAGLU):c.220dup (p.Arg74fs)	LOC130060903, NAGLU (R74fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic/Likely pathogenic
Select item 551454	NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup)	LOC130060903, NAGLU	Duplication (inframe_insertion)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 556920	NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)	LOC130060903, NAGLU (Y92H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 553505	NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)	NAGLU (P115S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic/Likely pathogenic
Select item 552642	NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)	NAGLU (E120*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 552838	NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del)	NAGLU	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 167321	NM_000263.4(NAGLU):c.383+1G>T	NAGLU	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic/Likely pathogenic
Select item 552772	NM_000263.4(NAGLU):c.384-1G>A	NAGLU	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 371634	NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU (Y140C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +10 more	GPathogenic/Likely pathogenic
Select item 288018	NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe)	NAGLU (S141F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 552133	NM_000263.4(NAGLU):c.423_425del (p.Phe142del)	NAGLU (F142del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 558352	NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)	NAGLU (I154R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 555746	NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu)	NAGLU	Deletion (inframe_indel)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 92695	NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)	NAGLU (W168*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GPathogenic
Select item 557246	NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del)	NAGLU (E172del)	Microsatellite (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 555666	NM_000263.4(NAGLU):c.531+46_531+75del	NAGLU	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-B	GLikely benign
Select item 552878	NM_000263.4(NAGLU):c.680A>C (p.His227Pro)	NAGLU (H227P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GConflicting classifications of pathogenicity
Select item 288040	NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)	NAGLU (Q232*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 556712	NM_000263.4(NAGLU):c.798_805del (p.Ser267fs)	NAGLU (S267fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 553448	NM_000263.4(NAGLU):c.809del (p.His270fs)	NAGLU (H270fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 557686	NM_000263.4(NAGLU):c.838_841del (p.Leu280fs)	NAGLU (L280fs)	Microsatellite (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 549924	NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)	NAGLU (A282V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 557231	NM_000263.4(NAGLU):c.867del (p.Ile290fs)	NAGLU (I290fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 553021	NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)	NAGLU (G292R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 1562	NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	NAGLU (R297*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 437446	NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	NAGLU (D312N)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 553204	NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)	NAGLU (V334F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GConflicting classifications of pathogenicity
Select item 557047	NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)	NAGLU (Y335C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 370575	NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)	NAGLU (E336*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 557773	NM_000263.4(NAGLU):c.1063del (p.Gln355fs)	NAGLU (Q355fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 557513	NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)	NAGLU (Q365*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GPathogenic/Likely pathogenic
Select item 558510	NM_000263.4(NAGLU):c.1112del (p.Gly371fs)	NAGLU (G371fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 558410	NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del)	NAGLU	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 556805	NM_000263.4(NAGLU):c.1200del (p.Gln400fs)	NAGLU (Q400fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 551331	NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)	NAGLU (W404*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 556379	NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)	NAGLU (F410S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GUncertain significance
Select item 552833	NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)	NAGLU (H414R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic/Likely pathogenic
Select item 553423	NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)	NAGLU (E446K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GPathogenic
Select item 552920	NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)	NAGLU (R464*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 555515	NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn)	NAGLU	Deletion (inframe_indel)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 555099	NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter)	NAGLU (W474*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 550911	NM_000263.4(NAGLU):c.1425del (p.Thr476fs)	NAGLU (T476fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 553792	NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs)	NAGLU (A480fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 1571	NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	NAGLU (R482W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 553948	NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)	NAGLU (R482Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GLikely pathogenic
Select item 557862	NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)	NAGLU (Y483fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 557975	NM_000263.4(NAGLU):c.1463dup (p.Asp489fs)	NAGLU (D489fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 553515	NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)	NAGLU (R520W)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GLikely pathogenic
Select item 554508	NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)	NAGLU (R541W)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 558459	NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)	NAGLU (Y558*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 1567	NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)	NAGLU (R565W)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic
Select item 557013	NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)	NAGLU (R565L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 30795	NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	NAGLU (R565Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +3 more	GPathogenic
Select item 557506	NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)	NAGLU (Q569*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 552424	NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter)	NAGLU (E570*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 558175	NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)	NAGLU (L591P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GConflicting classifications of pathogenicity
Select item 554402	NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)	NAGLU (P604L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic/Likely pathogenic
Select item 554081	NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe)	NAGLU (L617F)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 551779	NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)	NAGLU (W621*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 1561	NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)	NAGLU (R626*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic
Select item 551498	NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs)	NAGLU (E632fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 522822	NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)	NAGLU (E639*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 1563	NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)	NAGLU (R643H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GConflicting classifications of pathogenicity
Select item 557035	NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter)	NAGLU (Y644*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 143188	NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)	NAGLU (G650E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 558142	NM_000263.4(NAGLU):c.1995del (p.Leu666fs)	NAGLU (L666fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 553061	NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)	NAGLU (R674C)	Single nucleotide variant (missense variant)	Tip-toe gait +3 more	GPathogenic/Likely pathogenic
Select item 1560	NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)	NAGLU (R674H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558165	NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs)	NAGLU (S685fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 556657	NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)	NAGLU (Q688*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 554624	NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)	NAGLU (E705K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 553778	NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)	NAGLU (R720*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 553743	NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)	NAGLU (K729del)	Microsatellite (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B +2 more	GConflicting classifications of pathogenicity
Select item 557997	NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)	NAGLU (W743*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +2 more	GUncertain significance
Select item 556946	NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)	NAGLU	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance

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Items: 89