"Baylor Genetics"[submitter] AND "LOC129994126"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503905	NM_000046.5(ARSB):c.312+2T>G	ARSB, LOC129994126	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
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 559758	NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)	ARSB, LOC129994126 (T92K)	Single nucleotide variant (missense variant)	ARSB-related disorder +1 more	GPathogenic/Likely 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 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 559744	NM_000046.5(ARSB):c.237_243del (p.Val80fs)	ARSB, LOC129994126 (V80fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
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 3240405	NM_000046.5(ARSB):c.215_230delinsAGGAG (p.Leu72fs)	ARSB, LOC129994126 (L72fs)	Indel (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic
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 559737	NM_000046.5(ARSB):c.207_213dup (p.Leu72fs)	ARSB, LOC129994126 (L72fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GLikely pathogenic
Select item 1071912	NM_000046.5(ARSB):c.173del (p.Asn58fs)	ARSB, LOC129994126 (N58fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
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 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 453065	NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	LOC129994126, ARSB (L47fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92353	NM_000046.5(ARSB):c.118_134del (p.Gly40fs)	ARSB, LOC129994126 (G40fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
Select item 1074870	NM_000046.5(ARSB):c.121dup (p.Ala41fs)	LOC129994126, ARSB (A41fs)	Duplication (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic
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 1070404	NM_000046.5(ARSB):c.113del (p.Gly38fs)	ARSB, LOC129994126 (G38fs)	Deletion (frameshift variant)	Mucopolysaccharidosis type 6	GPathogenic/Likely pathogenic