C4479319[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028417	NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg)	HNRNPU (K609R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2582417	NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs)	HNRNPU (C575fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1028769	NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn)	HNRNPU (T474N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 696822	NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala)	HNRNPU (G406A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +2 more	GConflicting classifications of pathogenicity
Select item 267738	NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)	HNRNPU (G218fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1031469	NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg)	HNRNPU (G185R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1031468	NM_031844.3(HNRNPU):c.541A>G (p.Lys181Glu)	HNRNPU (K181E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance

ClinVar