"Laboratory of Medical Genetics, University of Torino"[submitter] AND - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1809599	NM_031844.3(HNRNPU):c.2425-3C>A	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 203383	NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs)	HNRNPU (G769fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic/Likely pathogenic
Select item 1809600	NM_031844.3(HNRNPU):c.2072del (p.Asn691fs)	HNRNPU (N672fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809597	NM_031844.3(HNRNPU):c.1717AAG[1] (p.Lys574del)	HNRNPU (K555del +1 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809596	NM_031844.3(HNRNPU):c.906_907del (p.Asp304fs)	HNRNPU (D285fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 372843	NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del)	HNRNPU (E279del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 431120	NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs)	HNRNPU (V6fs)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic/Likely pathogenic
Select item 1809602	Single allele	ADSS2, C1orf100 +8 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809598	Single allele	HNRNPU	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic