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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638092	NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)	LOC130060903, NAGLU (V77G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 556920	NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)	LOC130060903, NAGLU (Y92H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 371634	NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU (Y140C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +10 more	GPathogenic/Likely pathogenic
Select item 553021	NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)	NAGLU (G292R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 638093	NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)	NAGLU (D382Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GConflicting classifications of pathogenicity
Select item 552833	NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)	NAGLU (H414R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic/Likely pathogenic
Select item 1563	NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)	NAGLU (R643H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GConflicting classifications of pathogenicity

ClinVar