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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1493261	NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)	GUSB (T453M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 901	NM_000181.4(GUSB):c.1617C>T (p.Ser539=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GPathogenic/Likely pathogenic
Select item 1324522	NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)	GUSB (P196L +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7 +1 more	GUncertain significance
Select item 894	NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)	GUSB (R382C +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7 +1 more	GPathogenic/Likely pathogenic
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 1165325	NM_000181.4(GUSB):c.725-16C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7 +1 more	GBenign/Likely benign
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)	Mucopolysaccharidosis type 7 +2 more	GPathogenic
Select item 458510	NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)	GUSB (D152N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity; other
Select item 1684788	NM_000181.4(GUSB):c.380A>G (p.His127Arg)	GUSB (H127R)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 7 +1 more	GUncertain significance
Select item 1046222	NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)	GUSB (D53N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 1616556	NM_000181.4(GUSB):c.57C>T (p.Cys19=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign