Related gene-specific medical variations for Gene (Select 6935) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2434683	NM_001174096.2(ZEB1):c.1859del (p.Asn620fs)	ZEB1 (N401fs +11 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1300211	NM_001174096.2(ZEB1):c.688-1G>A	ZEB1	Single nucleotide variant (splice acceptor variant)	Posterior polymorphous corneal dystrophy 1	GLikely pathogenic
Select item 563696	GRCh37/hg19 10p11.22(chr10:31703182-31766281)x1	ZEB1	Copy number loss	not provided	GUncertain significance
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 443467	GRCh37/hg19 10p11.22(chr10:31731244-31781694)x1	ZEB1	Copy number loss	See cases	GUncertain significance

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