"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NAGLU"[gene] - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 936390	NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)	LOC130060903, NAGLU (E25fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 983398	NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)	NAGLU (P118L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GConflicting classifications of pathogenicity
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 1564	NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)	NAGLU (S169fs)	Deletion (frameshift variant)	not provided +10 more	GPathogenic
Select item 1299685	NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)	NAGLU (R177Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
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 841655	NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)	NAGLU (Y309C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 548579	NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)	NAGLU (N435S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
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 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 1566	NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	NAGLU (P521L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic/Likely 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 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 522823	NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)	NAGLU (S612G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 975752	NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)	NAGLU (R615C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
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 891695	NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)	NAGLU (R676L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance