C4479319[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1618880	NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GConflicting classifications of pathogenicity
Select item 1110853	NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GConflicting classifications of pathogenicity
Select item 2432519	NM_031844.3(HNRNPU):c.1193A>C (p.Glu398Ala)	HNRNPU (E379A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1388643	NM_031844.3(HNRNPU):c.991A>G (p.Lys331Glu)	HNRNPU (K331E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1324538	NM_031844.3(HNRNPU):c.857_858del (p.Thr286fs)	HNRNPU (T267fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1611148	NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser)	HNRNPU (G220S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GConflicting classifications of pathogenicity
Select item 2432518	NM_031844.3(HNRNPU):c.560G>C (p.Ser187Thr)	HNRNPU (S187T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2432517	NM_031844.3(HNRNPU):c.429_446del (p.Asp143_Glu148del)	HNRNPU	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 54	GUncertain significance