"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284192	NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)	LOC126862447, GALNS (V480F +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign/Likely benign
Select item 93168	NM_000512.5(GALNS):c.1431G>A (p.Glu477=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign