NAGLU[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1198846	NC_000017.11:g.42535722G>T	NAGLU	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1245069	NC_000017.11:g.42535761C>T	NAGLU	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 323284	NM_000263.3(NAGLU):c.-228C>G	NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323285	NM_000263.3(NAGLU):c.-212G>C	NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323286	NM_000263.3(NAGLU):c.-200G>C	NAGLU	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 323287	NM_000263.3(NAGLU):c.-167G>T	NAGLU	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323288	NM_000263.3(NAGLU):c.-144G>A	NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323289	NM_000263.3(NAGLU):c.-138A>G	NAGLU	Single nucleotide variant	Sanfilippo syndrome +1 more	GBenign/Likely benign
Select item 1621485	NM_000263.4(NAGLU):c.282C>G (p.Arg94=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 752440	NM_000263.4(NAGLU):c.282C>T (p.Arg94=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1588730	NM_000263.4(NAGLU):c.288C>T (p.Phe96=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 973593	NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)	NAGLU (C97W)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic/Likely pathogenic
Select item 1638166	NM_000263.4(NAGLU):c.294C>T (p.Gly98=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2124767	NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)	NAGLU (A102T)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2931837	NM_000263.4(NAGLU):c.306C>T (p.Ala102=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2027280	NM_000263.4(NAGLU):c.306C>G (p.Ala102=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1456411	NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter)	NAGLU (W103*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 590818	NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)	NAGLU (W103*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 1493202	NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr)	NAGLU (S104Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2938666	NM_000263.4(NAGLU):c.312C>T (p.Ser104=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 941742	NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)	NAGLU (G105S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1714975	NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)	NAGLU (G105A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 1451661	NM_000263.4(NAGLU):c.317_323del (p.Ser106fs)	NAGLU (S106fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 1570444	NM_000263.4(NAGLU):c.315C>G (p.Gly105=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1912734	NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)	NAGLU (S106F)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2025655	NM_000263.4(NAGLU):c.318T>G (p.Ser106=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3173759	NM_000263.4(NAGLU):c.320A>G (p.Gln107Arg)	NAGLU (Q107R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1534842	NM_000263.4(NAGLU):c.321G>A (p.Gln107=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2927778	NM_000263.4(NAGLU):c.322C>T (p.Leu108=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2016039	NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)	NAGLU (R109L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 1381622	NM_000263.4(NAGLU):c.326G>A (p.Arg109His)	NAGLU (R109H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2010838	NM_000263.4(NAGLU):c.327C>A (p.Arg109=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1612690	NM_000263.4(NAGLU):c.327C>T (p.Arg109=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2949336	NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)	NAGLU	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2011393	NM_000263.4(NAGLU):c.329dup (p.Pro111fs)	NAGLU (P111fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 1501187	NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu)	NAGLU (P111L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1605872	NM_000263.4(NAGLU):c.339A>T (p.Pro113=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1135898	NM_000263.4(NAGLU):c.340C>T (p.Leu114=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1552216	NM_000263.4(NAGLU):c.342G>A (p.Leu114=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 553505	NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)	NAGLU (P115S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 1399024	NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu)	NAGLU (P115L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 1090846	NM_000263.4(NAGLU):c.345A>G (p.Pro115=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1918605	NM_000263.4(NAGLU):c.348C>A (p.Ala116=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1142413	NM_000263.4(NAGLU):c.348C>G (p.Ala116=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 323294	NM_000263.4(NAGLU):c.348C>T (p.Ala116=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GConflicting classifications of pathogenicity
Select item 2157667	NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)	NAGLU (V117L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2059902	NM_000263.4(NAGLU):c.351G>A (p.Val117=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 753519	NM_000263.4(NAGLU):c.351G>T (p.Val117=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 983398	NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)	NAGLU (P118L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GConflicting classifications of pathogenicity
Select item 2954420	NM_000263.4(NAGLU):c.354G>T (p.Pro118=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2930911	NM_000263.4(NAGLU):c.354G>A (p.Pro118=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1667185	NM_000263.4(NAGLU):c.354G>C (p.Pro118=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 891628	NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)	NAGLU (G119R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
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 1994660	NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)	NAGLU (E120G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2169685	NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)	NAGLU (L121P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1081243	NM_000263.4(NAGLU):c.366C>G (p.Thr122=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1079091	NM_000263.4(NAGLU):c.366C>A (p.Thr122=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 204586	NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)	NAGLU (E123*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +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 2947204	NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)	NAGLU (P126L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1431355	NM_000263.4(NAGLU):c.379A>C (p.Asn127His)	NAGLU (N127H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2186121	NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)	NAGLU (N127S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1710486	NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys)	NAGLU (N127K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 1539597	NM_000263.4(NAGLU):c.381C>T (p.Asn127=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
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 2168103	NM_000263.4(NAGLU):c.383+3A>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2195241	NM_000263.4(NAGLU):c.383+5C>T	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 1420700	NM_000263.4(NAGLU):c.383+5C>G	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 1395611	NM_000263.4(NAGLU):c.383+5C>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1938474	NM_000263.4(NAGLU):c.383+6G>T	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 2954038	NM_000263.4(NAGLU):c.383+10del	NAGLU	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GBenign
Select item 2952802	NM_000263.4(NAGLU):c.383+7C>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 712392	NM_000263.4(NAGLU):c.383+7C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2932564	NM_000263.4(NAGLU):c.383+8C>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1654214	NM_000263.4(NAGLU):c.383+10C>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1144142	NM_000263.4(NAGLU):c.383+10C>T	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1608158	NM_000263.4(NAGLU):c.383+11G>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2931566	NM_000263.4(NAGLU):c.383+13A>G	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2024677	NM_000263.4(NAGLU):c.383+14G>A	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2942155	NM_000263.4(NAGLU):c.383+15C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2953335	NM_000263.4(NAGLU):c.383+17del	NAGLU	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2937375	NM_000263.4(NAGLU):c.383+16T>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2926177	NM_000263.4(NAGLU):c.383+17T>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1644297	NM_000263.4(NAGLU):c.383+20C>A	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1199150	NM_000263.4(NAGLU):c.384-284A>C	NAGLU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246173	NM_000263.4(NAGLU):c.384-184G>C	NAGLU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2445816	NM_000263.4(NAGLU):c.384-32_384-20dup	NAGLU	Duplication (intron variant)	not specified	GLikely benign
Select item 2199599	NM_000263.4(NAGLU):c.384-19C>T	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2951675	NM_000263.4(NAGLU):c.384-18T>C	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1588475	NM_000263.4(NAGLU):c.384-16A>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1999234	NM_000263.4(NAGLU):c.384-15T>A	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2954305	NM_000263.4(NAGLU):c.384-12C>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2931838	NM_000263.4(NAGLU):c.384-12C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1947538	NM_000263.4(NAGLU):c.384-11A>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1304935	NM_000263.4(NAGLU):c.384-10C>G	NAGLU	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1120541	NM_000263.4(NAGLU):c.384-10C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2020822	NM_000263.4(NAGLU):c.384-9T>C	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1671653	NM_000263.4(NAGLU):c.384-8G>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1119846	NM_000263.4(NAGLU):c.384-8G>A	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign

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