"Myriad Genetics, Inc."[submitter] AND "NAGLU"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725141	NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs)	LOC130060903, NAGLU (E28fs)	Indel (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 1725245	NM_000263.4(NAGLU):c.397del (p.Gln133fs)	NAGLU (Q133fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 1724240	NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter)	NAGLU (W144*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 983994	NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter)	NAGLU (W145*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 983995	NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter)	NAGLU (Q186*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 983996	NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter)	NAGLU (W210*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 1724844	NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)	NAGLU (Q226*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 553260	NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)	NAGLU (Q706*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GConflicting classifications of pathogenicity

ClinVar