ClinVar for PubMed (Select 25190157) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2871031	NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)	ARSB (G167R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 2203661	NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)	ARSB (T442R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 1073285	NC_000005.9:g.(?_78260219)_(78265035_?)del	ARSB	Deletion	Mucopolysaccharidosis type 6	GPathogenic
Select item 831749	NC_000005.10:g.(?_78964406)_(78969202_?)del	ARSB	Deletion	Mucopolysaccharidosis type 6	GPathogenic
Select item 559832	NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)	ARSB (R327*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559823	NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)	ARSB (G303E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559812	NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)	ARSB (Y255*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559795	NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp)	ARSB (Y175D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559792	NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)	ARSB (G167R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559740	NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	ARSB, LOC129994126 (L72R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559739	NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)	ARSB, LOC129994126 (L72P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559710	NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter)	ARSB (S464*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559689	NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter)	ARSB (S403*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559688	NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)	ARSB (F399L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559661	NM_000046.4:c.(312+1_313-1_690+1_691-1)del	ARSB	Deletion	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 379809	NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)	ARSB (T442M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic