ClinVar for Gene (Select 220930) - ClinVar - NCBI

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Items: 4

	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 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 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic

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