"Ambry Genetics"[submitter] AND "LOC130060903"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1425595	NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser)	LOC130060903, NAGLU (A3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2138020	NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)	LOC130060903, NAGLU (R38W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 323293	NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)	LOC130060903, NAGLU (A57G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GUncertain significance
Select item 1426229	NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp)	LOC130060903, NAGLU (G68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2154072	NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)	LOC130060903, NAGLU (G79S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2370087	NM_000263.4(NAGLU):c.248T>G (p.Val83Gly)	LOC130060903, NAGLU (V83G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065087	NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)	LOC130060903, NAGLU (A87S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GUncertain significance

ClinVar