C1856113[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686309	NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter)	ZEB2 (Y1046* +1 more)	Insertion (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 1686310	NM_014795.4(ZEB2):c.3134del (p.His1045fs)	ZEB2 (H1021fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 801753	NM_014795.4(ZEB2):c.3122A>G (p.His1041Arg)	ZEB2 (H1017R +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 801754	NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer)	ZEB2	Deletion (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 801755	NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter)	ZEB2 (Q675* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 1686311	NM_014795.4(ZEB2):c.1848del (p.His617fs)	ZEB2 (H593fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 95642	NM_014795.4(ZEB2):c.807+3G>C	ZEB2	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 180207	NM_014795.4(ZEB2):c.289del (p.Trp97fs)	ZEB2 (W97fs)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 801756	NM_014795.4(ZEB2):c.244G>A (p.Glu82Lys)	ZEB2 (E82K)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 801757	NM_014795.4(ZEB2):c.194_195del (p.Val65fs)	ZEB2 (V65fs)	Microsatellite (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 181761	NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala)	ZEB2 (P4A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign