C4479319[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333693	NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp)	HNRNPU (G354D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1526082	NM_031844.3(HNRNPU):c.520del (p.Gln174fs)	HNRNPU (Q174fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 2444345	NM_031844.3(HNRNPU):c.32_35del (p.Leu11fs)	HNRNPU (L11fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic

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