"3billion"[submitter] AND "ZEB2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1306860	NM_014795.4(ZEB2):c.3353C>T (p.Pro1118Leu)	ZEB2 (P1094L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1705535	NM_014795.4(ZEB2):c.3227dup (p.His1076fs)	ZEB2 (H1052fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 1705483	NM_014795.4(ZEB2):c.2890G>T (p.Glu964Ter)	ZEB2 (E940* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 1526203	NM_014795.4(ZEB2):c.2384del (p.Asn795fs)	ZEB2 (N771fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 2444433	NM_014795.4(ZEB2):c.2273_2274del (p.Leu758fs)	ZEB2 (L734fs +1 more)	Microsatellite (frameshift variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 4755	NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)	ZEB2 (R695* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1320262	NM_014795.4(ZEB2):c.2056G>T (p.Glu686Ter)	ZEB2 (E662* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 1320108	NM_014795.4(ZEB2):c.1209del (p.Met404fs)	ZEB2 (M380fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1320156	NM_014795.4(ZEB2):c.1170del (p.Thr392fs)	ZEB2 (T368fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1320255	NM_014795.4(ZEB2):c.1052del (p.Gly351fs)	ZEB2 (G327fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1320148	NM_014795.4(ZEB2):c.769G>T (p.Glu257Ter)	ZEB2 (E233* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 1687172	NM_014795.4(ZEB2):c.310C>T (p.Gln104Ter)	ZEB2 (Q104*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1320072	NM_014795.4(ZEB2):c.73+1G>A	ZEB2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic