"Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Universit - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559767	NM_000046.5(ARSB):c.307_312+147del	ARSB, LOC129994126	Deletion (splice donor variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559768	NM_000046.5(ARSB):c.312G>C (p.Gln104His)	ARSB, LOC129994126 (Q104H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559766	NM_000046.5(ARSB):c.305G>A (p.Arg102His)	ARSB, LOC129994126 (R102H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 559765	NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)	ARSB, LOC129994126 (L98R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559764	NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)	ARSB, LOC129994126 (L98P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559763	NM_000046.5(ARSB):c.293T>A (p.Leu98Gln)	LOC129994126, ARSB (L98Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559762	NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)	ARSB, LOC129994126 (Q97*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
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 884	NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)	ARSB, LOC129994126 (R95Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
Select item 559761	NM_000046.5(ARSB):c.278C>T (p.Pro93Leu)	ARSB, LOC129994126 (P93L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559760	NM_000046.5(ARSB):c.277C>T (p.Pro93Ser)	ARSB, LOC129994126 (P93S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559759	NM_000046.5(ARSB):c.275C>T (p.Thr92Met)	LOC129994126, ARSB (T92M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559758	NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)	ARSB, LOC129994126 (T92K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
Select item 559755	NM_000046.5(ARSB):c.270_274del (p.Cys91fs)	LOC129994126, ARSB (C91fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559757	NM_000046.5(ARSB):c.272G>A (p.Cys91Tyr)	ARSB, LOC129994126 (C91Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559756	NM_000046.5(ARSB):c.271T>C (p.Cys91Arg)	ARSB, LOC129994126 (C91R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559754	NM_000046.5(ARSB):c.264G>C (p.Gln88His)	ARSB, LOC129994126 (Q88H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559753	NM_000046.5(ARSB):c.263dup (p.Pro89fs)	ARSB, LOC129994126 (P89fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
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 559751	NM_000046.5(ARSB):c.260C>G (p.Thr87Arg)	ARSB, LOC129994126 (T87R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559750	NM_000046.5(ARSB):c.253T>C (p.Tyr85His)	ARSB, LOC129994126 (Y85H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559748	NM_000046.5(ARSB):c.247_248del (p.Asp83fs)	ARSB, LOC129994126 (D83fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
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 559747	NM_000046.5(ARSB):c.246G>A (p.Leu82=)	ARSB, LOC129994126	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559746	NM_000046.5(ARSB):c.245del (p.Leu82fs)	ARSB, LOC129994126 (L82fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 445290	NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	LOC129994126, ARSB (L82R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559744	NM_000046.5(ARSB):c.237_243del (p.Val80fs)	ARSB, LOC129994126 (V80fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 881	NM_000046.5(ARSB):c.238del (p.Val80fs)	ARSB, LOC129994126 (V80fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 559743	NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)	ARSB, LOC129994126 (G79E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559742	NM_000046.5(ARSB):c.223_232del (p.Leu75fs)	ARSB, LOC129994126 (L75fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559741	NM_000046.5(ARSB):c.219del (p.Asp73fs)	ARSB, LOC129994126 (D73fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
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 559738	NM_000046.5(ARSB):c.208_215del (p.Pro70fs)	ARSB, LOC129994126 (P70fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 883	NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)	ARSB, LOC129994126 (L72Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +2 more	GConflicting classifications of pathogenicity
Select item 559737	NM_000046.5(ARSB):c.207_213dup (p.Leu72fs)	ARSB, LOC129994126 (L72fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559736	NM_000046.5(ARSB):c.206C>T (p.Thr69Met)	ARSB, LOC129994126 (T69M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559735	NM_000046.5(ARSB):c.194C>T (p.Ser65Phe)	ARSB, LOC129994126 (S65F)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559734	NM_000046.5(ARSB):c.176A>T (p.Asp59Val)	ARSB, LOC129994126 (D59V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 559733	NM_000046.5(ARSB):c.175G>A (p.Asp59Asn)	ARSB, LOC129994126 (D59N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GUncertain significance
Select item 559732	NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)	ARSB, LOC129994126 (W57C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GConflicting classifications of pathogenicity
Select item 559731	NM_000046.5(ARSB):c.167G>A (p.Gly56Asp)	ARSB, LOC129994126 (G56D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6	GUncertain significance
Select item 559730	NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)	ARSB, LOC129994126 (D54N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
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
Select item 559718	NM_000046.5(ARSB):c.149T>A (p.Leu50Ter)	ARSB, LOC129994126 (L50*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 495377	NM_000046.5(ARSB):c.116_123del (p.Ala39fs)	ARSB, LOC129994126 (A39fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
Select item 495378	NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)	ARSB, LOC129994126	Deletion (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 559673	NM_000046.5(ARSB):c.108_120del (p.Ser37fs)	ARSB, LOC129994126 (S37fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
Select item 559681	NM_000046.5(ARSB):c.114del (p.Ala39fs)	ARSB, LOC129994126 (A39fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
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

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Items: 50