"Foundation for Research in Genetics and Endocrinology, FRIGE's Instit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810396	NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)	ARSB (A431P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559828	NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)	ARSB (R315*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559822	NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)	ARSB (G302R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 2446055	NM_000046.5(ARSB):c.438del (p.Trp146fs)	ARSB (W146fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 2582300	NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)	ARSB (P123fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 1710132	NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)	ARSB, LOC129994126 (Q97K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559725	NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)	ARSB, LOC129994126 (D53N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic

ClinVar