"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802538	NM_014795.4(ZEB2):c.3160C>G (p.Pro1054Ala)	ZEB2 (P1030A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 2632784	NM_014795.4(ZEB2):c.3031del (p.Ser1011fs)	ZEB2 (S1011fs +1 more)	Deletion (frameshift variant)	ZEB2-related disorder +1 more	GPathogenic
Select item 1703405	NM_014795.4(ZEB2):c.2718del (p.Ala907fs)	ZEB2 (A883fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome +1 more	GPathogenic
Select item 1172771	NM_014795.4(ZEB2):c.2717del (p.Pro906fs)	ZEB2 (P882fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 198867	NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter)	ZEB2 (Q901* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +1 more	GPathogenic
Select item 2687500	NM_014795.4(ZEB2):c.2682del (p.Leu894fs)	ZEB2 (L870fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1802548	NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)	ZEB2 (L762fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687506	NM_014795.4(ZEB2):c.2254dup (p.Thr752fs)	ZEB2 (T728fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687497	NM_014795.4(ZEB2):c.2180T>A (p.Leu727Ter)	ZEB2 (L703* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
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 2687498	NM_014795.4(ZEB2):c.1631_1635dup (p.Asp546fs)	ZEB2 (D522fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687504	NM_014795.4(ZEB2):c.1578_1579delinsA (p.Asp527fs)	ZEB2 (D503fs +1 more)	Indel (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 2687508	NM_014795.4(ZEB2):c.901del (p.Leu301fs)	ZEB2 (L277fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687501	NM_014795.4(ZEB2):c.817del (p.Met272_Leu273insTer)	ZEB2	Deletion (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 2687503	NM_014795.4(ZEB2):c.715del (p.Glu239fs)	ZEB2 (E215fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687505	NM_014795.4(ZEB2):c.696C>G (p.Tyr232Ter)	ZEB2 (Y208* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 2687502	NM_014795.4(ZEB2):c.650_653dup (p.Gly219fs)	ZEB2 (G195fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1180834	NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter)	ZEB2 (Q185* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the nervous system +1 more	GPathogenic
Select item 2687499	NM_014795.4(ZEB2):c.540del (p.Glu181fs)	LOC111721705, ZEB2 (E157fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687509	NM_014795.4(ZEB2):c.477_484del (p.His159fs)	ZEB2 (H135fs +1 more)	Deletion (frameshift variant)	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 2687507	NM_014795.4(ZEB2):c.274G>T (p.Gly92Ter)	ZEB2 (G92*)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic

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Items: 23