ClinVar for MedGen (Select 959933) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 18165	NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)	LOC126863160, NAGA (S160C)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 18162	NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	NAGA (E325K)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency +6 more	GConflicting classifications of pathogenicity