"Universitäts-Kinderspital Zürich"[submitter] AND "GLYCTK"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92241	NM_145262.4(GLYCTK):c.1448del (p.Phe483fs)	GLYCTK (F483fs)	Deletion (3 prime UTR variant +2 more)	D-Glyceric aciduria	GPathogenic
Select item 30836	NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)	GLYCTK (F493C)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria +1 more	GConflicting classifications of pathogenicity
Select item 92242	NM_145262.4(GLYCTK):c.1558del (p.Leu520fs)	GLYCTK (L520fs)	Deletion (frameshift variant +1 more)	D-Glyceric aciduria	GPathogenic

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