C0026709[trait identifier] AND "Medical Molecular Genetics Department, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445292	NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)	ARSB (R160Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 445291	NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)	ARSB (R160*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 445293	NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)	ARSB, LOC129994126 (S96R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 445287	NM_000046.5(ARSB):c.281C>T (p.Ser94Leu)	ARSB, LOC129994126 (S94L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 445286	NM_000046.5(ARSB):c.257del (p.Tyr86fs)	ARSB, LOC129994126 (Y86fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 445290	NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	ARSB, LOC129994126 (L82R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 445288	NM_000046.5(ARSB):c.189_190insA (p.Gly64fs)	ARSB, LOC129994126 (G64fs)	Insertion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 445289	NM_000046.5(ARSB):c.152T>C (p.Leu51Pro)	ARSB, LOC129994126 (L51P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic

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