"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NAGLU"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2198715	NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)	LOC130060903, NAGLU (A73T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 235755	NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr)	NAGLU (S141T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 92694	NM_000263.4(NAGLU):c.423T>C (p.Ser141=)	NAGLU	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 323296	NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)	NAGLU (R228Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GUncertain significance
Select item 496805	NM_000263.4(NAGLU):c.764+19C>G	NAGLU	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 2196826	NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)	NAGLU (I300T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1163598	NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)	NAGLU (W361L)	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 3380486	NM_000263.4(NAGLU):c.1238A>G (p.Asn413Ser)	NAGLU (N413S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784713	NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)	NAGLU (S449N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 851889	NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)	NAGLU (S477T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1187849	NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)	NAGLU (A479T)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GConflicting classifications of pathogenicity
Select item 290578	NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)	NAGLU (A480T)	Single nucleotide variant (missense 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2139876	NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)	NAGLU (R514H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 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 1693699	NM_000263.4(NAGLU):c.2128C>G (p.Leu710Val)	NAGLU (L710V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92693	NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)	NAGLU (R737G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GBenign
Select item 92692	NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)	NAGLU (R737S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign

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Items: 20