"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NAGLU"[gen - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323287	NM_000263.3(NAGLU):c.-167G>T	NAGLU	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 542459	NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])	LOC130060903, NAGLU	Microsatellite (inframe_insertion)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2177052	NM_000263.4(NAGLU):c.258C>T (p.Ala86=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2647789	NM_000263.4(NAGLU):c.268C>T (p.His90Tyr)	LOC130060903, NAGLU (H90Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 371634	NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU (Y140C)	Single nucleotide variant (missense variant)	Hypertrichosis +10 more	GPathogenic/Likely pathogenic
Select item 808269	NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn)	NAGLU (D211N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GConflicting classifications of pathogenicity
Select item 323295	NM_000263.4(NAGLU):c.675G>T (p.Leu225=)	NAGLU	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely 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 1013390	NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)	NAGLU (R234G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GLikely pathogenic
Select item 744227	NM_000263.4(NAGLU):c.723G>A (p.Val241=)	NAGLU	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1154527	NM_000263.4(NAGLU):c.732A>G (p.Ala244=)	NAGLU	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1562	NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	NAGLU (R297*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GPathogenic/Likely pathogenic
Select item 1113144	NM_000263.4(NAGLU):c.909T>C (p.Phe303=)	NAGLU	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 92697	NM_000263.4(NAGLU):c.933C>G (p.Ala311=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GConflicting classifications of pathogenicity
Select item 1176660	NM_000263.4(NAGLU):c.942del (p.Phe314fs)	NAGLU (F314fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 623899	NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)	NAGLU (V334I)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GConflicting classifications of pathogenicity
Select item 323298	NM_000263.4(NAGLU):c.1119G>T (p.Val373=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GConflicting classifications of pathogenicity
Select item 808270	NM_000263.4(NAGLU):c.1267G>A (p.Val423Met)	NAGLU (V423M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 916233	NM_000263.4(NAGLU):c.1291dup (p.Arg431fs)	NAGLU (R431fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 871076	NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)	NAGLU (E452K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GPathogenic
Select item 290578	NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)	NAGLU (A480T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GConflicting classifications of pathogenicity
Select item 522295	NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)	NAGLU	Single nucleotide variant (synonymous variant)	NAGLU-related condition +3 more	GConflicting classifications of pathogenicity
Select item 323301	NM_000263.4(NAGLU):c.1503G>A (p.Val501=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GConflicting classifications of pathogenicity
Select item 290320	NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GConflicting classifications of pathogenicity
Select item 2647790	NM_000263.4(NAGLU):c.1540C>G (p.Arg514Gly)	NAGLU (R514G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871077	NM_000263.4(NAGLU):c.1552del (p.Val518fs)	NAGLU (V518fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 1711438	NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)	NAGLU	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 808271	NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GConflicting classifications of pathogenicity
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 281006	NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +3 more	GBenign/Likely benign
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 323304	NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GConflicting classifications of pathogenicity
Select item 623900	NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)	NAGLU (L682V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GConflicting classifications of pathogenicity
Select item 1323323	NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)	NAGLU (L682R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GPathogenic/Likely pathogenic
Select item 1132609	NM_000263.4(NAGLU):c.2055T>C (p.Ser685=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GLikely benign
Select item 808272	NM_000263.4(NAGLU):c.2150G>C (p.Ser717Thr)	NAGLU (S717T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92692	NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)	NAGLU (R737S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38