C4479319[trait identifier] AND "New York Genome Center"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446397	NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)	HNRNPU (G750S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GConflicting classifications of pathogenicity
Select item 1342608	NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs)	HNRNPU (R224fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 54	GConflicting classifications of pathogenicity