"Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics" - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189282	NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs)	ZEB2 (P1131fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 95635	NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs)	ZEB2 (G1096fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 95633	NM_014795.4(ZEB2):c.3067+6A>T	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome +2 more	GBenign/Likely benign
Select item 189266	NM_014795.4(ZEB2):c.2687_2688dup (p.Ala897fs)	ZEB2 (A873fs +1 more)	Microsatellite (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189288	NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs)	ZEB2 (S726fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189276	NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs)	ZEB2 (L727fs +1 more)	Deletion (frameshift variant)	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 189285	NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs)	ZEB2 (M632fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189265	NM_014795.4(ZEB2):c.1944del (p.Ile649fs)	ZEB2 (I625fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189277	NM_014795.4(ZEB2):c.1884del (p.Phe628fs)	ZEB2 (F604fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 167854	NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter)	ZEB2 (G626* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 189275	NM_014795.4(ZEB2):c.1754del (p.Phe585fs)	ZEB2 (F585fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189274	NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter)	ZEB2 (C583* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 189286	NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer)	ZEB2	Deletion (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 189287	NM_014795.4(ZEB2):c.1653del (p.Ser552fs)	ZEB2 (S552fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189271	NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs)	ZEB2 (V515fs +1 more)	Insertion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189280	NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs)	ZEB2 (R473fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189273	NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter)	ZEB2 (L426* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 189263	NM_014795.4(ZEB2):c.1257del (p.Gly421fs)	ZEB2 (G421fs +1 more)	Deletion (frameshift variant)	ZEB2-related disorder	GPathogenic
Select item 167856	NM_014795.4(ZEB2):c.1218del (p.His407fs)	ZEB2 (H383fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 189267	NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer)	ZEB2	Indel (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 189281	NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)	ZEB2 (R343* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +2 more	GPathogenic
Select item 160329	NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)	ZEB2 (R302* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 189272	NM_014795.4(ZEB2):c.703del (p.Glu235fs)	ZEB2 (E211fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189269	NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter)	ZEB2 (Y220* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 189283	NM_014795.4(ZEB2):c.460del (p.Glu154fs)	ZEB2 (E154fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 137957	NM_014795.4(ZEB2):c.403+18C>T	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome +1 more	GBenign/Likely benign
Select item 181724	NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe)	ZEB2 (I102F)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +3 more	GBenign/Likely benign
Select item 189278	NM_014795.4(ZEB2):c.227_233del (p.Gln76fs)	ZEB2 (Q76fs)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189279	NM_014795.4(ZEB2):c.73+1del	ZEB2	Deletion (splice donor variant)	not provided	GPathogenic
Select item 189264	NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs)	ZEB2 (D8fs)	Insertion (frameshift variant +1 more)	Mowat-Wilson syndrome	GPathogenic
Select item 189284	NM_014795.3(ZEB2):c.3068-?_(*5076_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 189270	NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 189268	NM_014795.3(ZEB2):c.404-?_(*5076_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic

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Items: 34