"GUSB-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1077388	NM_000181.4(GUSB):c.1929A>G (p.Gln643=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	GUSB-related disorder +1 more	GLikely benign
Select item 590834	NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)	GUSB	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis type 7 +1 more	GLikely benign
Select item 2629265	NM_000181.4(GUSB):c.1884_1886dup (p.Lys628_Ile629insMet)	GUSB	Duplication (inframe_insertion +1 more)	GUSB-related disorder	GUncertain significance
Select item 907	NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)	GUSB (W627C +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7 +2 more	GLikely pathogenic
Select item 1672450	NM_000181.4(GUSB):c.1425C>T (p.Pro475=)	GUSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 7 +1 more	GLikely benign
Select item 568226	NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)	GUSB (K471T +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 7 +1 more	GConflicting classifications of pathogenicity
Select item 2630969	NM_000181.4(GUSB):c.1070G>A (p.Arg357Gln)	GUSB (R138Q +3 more)	Single nucleotide variant (missense variant +1 more)	GUSB-related disorder	GUncertain significance
Select item 3042467	NM_000181.4(GUSB):c.913-4A>G	GUSB	Single nucleotide variant (intron variant)	GUSB-related disorder	GLikely benign
Select item 1663021	NM_000181.4(GUSB):c.581+8C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7 +1 more	GLikely benign
Select item 2636656	NM_000181.4(GUSB):c.581+1G>A	GUSB	Single nucleotide variant (intron variant +1 more)	GUSB-related disorder +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)	GUSB-related disorder +3 more	GPathogenic
Select item 528234	NM_000181.4(GUSB):c.222C>T (p.Thr74=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7 +2 more	GBenign/Likely benign
Select item 2915826	NM_000181.4(GUSB):c.192C>T (p.Tyr64=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7 +1 more	GLikely benign
Select item 1135642	NM_000181.4(GUSB):c.147C>T (p.Ala49=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7 +1 more	GLikely benign