C0026709[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 887	NM_000046.5(ARSB):c.1143-1G>C	ARSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 888	NM_000046.5(ARSB):c.1143-8T>G	ARSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559832	NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)	ARSB (R327*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 92356	NM_000046.5(ARSB):c.971G>T (p.Gly324Val)	ARSB (G324V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 166694	NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)	ARSB (R315Q)	Single nucleotide variant (missense variant)	ARSB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 547955	NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)	ARSB (N310D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 885	NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	ARSB (Y210C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +2 more	GPathogenic
Select item 1195895	NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)	ARSB (R159C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 558775	NM_000046.5(ARSB):c.317G>A (p.Arg106His)	ARSB (R106H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559752	NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)	ARSB, LOC129994126 (Q88*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559749	NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)	ARSB, LOC129994126 (D83Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	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 1378397	NM_000046.5(ARSB):c.181G>A (p.Gly61Ser)	ARSB, LOC129994126 (G61S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 495378	NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)	ARSB, LOC129994126	Deletion (inframe_deletion)	Mucopolysaccharidosis type 6 +2 more	GBenign/Likely benign
Select item 193036	NM_000046.5(ARSB):c.98C>T (p.Ala33Val)	ARSB, LOC129994126 (A33V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 648449	NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del)	ARSB, LOC129994126 (L32del)	Microsatellite (inframe_deletion)	Mucopolysaccharidosis type 6 +1 more	GUncertain significance
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