ClinVar for MedGen (Select 442478) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444117	NM_001174096.2(ZEB1):c.831del (p.Ser279fs)	ZEB1 (S187fs +11 more)	Deletion (frameshift variant)	Corneal dystrophy, Fuchs endothelial, 6	GLikely pathogenic
Select item 2443788	NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)	ZEB1 (Q640H +11 more)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 6	GPathogenic
Select item 1691711	NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)	ZEB1 (I146fs +11 more)	Duplication (frameshift variant)	Corneal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1536748	NM_001174096.2(ZEB1):c.699G>A (p.Thr233=)	ZEB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1032236	NM_001174096.2(ZEB1):c.504del (p.Gln169fs)	ZEB1 (Q148fs +10 more)	Deletion (frameshift variant +1 more)	Corneal dystrophy, Fuchs endothelial, 6	GLikely pathogenic
Select item 709250	NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr)	ZEB1 (I737T +11 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 488897	NM_001174096.2(ZEB1):c.3G>A (p.Met1Ile)	LOC130003630, ZEB1 +1 more (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 12634	NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)	ZEB1 (Q840P +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12633	NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)	ZEB1 (N78T +2 more)	Single nucleotide variant (missense variant +2 more)	ZEB1-related condition +3 more	GBenign/Likely benign