ClinVar for MedGen (Select 322978) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382620	NM_001174096.2(ZEB1):c.593A>C (p.Glu198Ala)	ZEB1 (E106A +10 more)	Single nucleotide variant (missense variant +1 more)	Posterior polymorphous corneal dystrophy 3 +1 more	GUncertain significance
Select item 2664719	NM_001174096.2(ZEB1):c.692_693del (p.His231fs)	ZEB1 (H12fs +11 more)	Deletion (frameshift variant)	Posterior polymorphous corneal dystrophy 3	GLikely pathogenic
Select item 2443790	NM_001174096.2(ZEB1):c.1A>C (p.Met1Leu)	ZEB1-AS1, LOC130003630 +1 more	Single nucleotide variant (missense variant +3 more)	Posterior polymorphous corneal dystrophy 3	GPathogenic
Select item 2443789	NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter)	ZEB1 (S750* +11 more)	Single nucleotide variant (nonsense)	Posterior polymorphous corneal dystrophy 3	GPathogenic
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 709250	NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr)	ZEB1 (I737T +11 more)	Single nucleotide variant (missense variant)	not provided +2 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 12632	NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter)	ZEB1 (Q232* +11 more)	Single nucleotide variant (nonsense)	Posterior polymorphous corneal dystrophy 3	GPathogenic
Select item 12631	NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs)	ZEB1 (G906fs +11 more)	Deletion (frameshift variant)	Posterior polymorphous corneal dystrophy 3	GPathogenic