ClinVar for MedGen (Select 337093) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598985	NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)	GNS (P532A)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +22 more	GConflicting classifications of pathogenicity
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	tegafur response - Toxicity +3 more	Gdrug response