"GeneDx"[submitter] AND "GUSB"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92588	NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)	GUSB (L649P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 907	NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)	GUSB (W627C +3 more)	Single nucleotide variant (missense variant +1 more)	GUSB-related disorder +2 more	GLikely pathogenic
Select item 893	NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)	GUSB (A619V +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7 +1 more	GPathogenic/Likely pathogenic
Select item 92587	NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7 +2 more	GBenign
Select item 2069998	NM_000181.4(GUSB):c.1527C>A (p.His509Gln)	GUSB, LOC126860055 (H363Q +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7 +2 more	GUncertain significance
Select item 900	NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)	GUSB, LOC126860055 (W507* +3 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 7 +1 more	GPathogenic
Select item 1488041	NM_000181.4(GUSB):c.1325C>T (p.Ala442Val)	GUSB (A442V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 908	NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)	GUSB (R357* +3 more)	Single nucleotide variant (nonsense +1 more)	Non-immune hydrops fetalis +2 more	GPathogenic/Likely pathogenic
Select item 384509	NM_000181.4(GUSB):c.1066-3T>C	GUSB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 896	NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)	GUSB (A354V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1699758	NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys)	GUSB (Y109C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 895	NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)	GUSB (R216W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 905	NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)	GUSB (L176F)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
Select item 458510	NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)	GUSB (D152N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7 +1 more	GConflicting classifications of pathogenicity; other
Select item 452671	NM_000181.4(GUSB):c.190T>C (p.Tyr64His)	GUSB (Y64H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1696099	NM_000181.4(GUSB):c.151T>A (p.Phe51Ile)	GUSB (F51I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3342417	NM_000181.4(GUSB):c.8G>T (p.Arg3Leu)	GUSB (R3L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360939	NM_000181.4(GUSB):c.1435G>T (p.Val479Leu)	GUSB (V260L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance