ClinVar for MedGen (Select 322978) - ClinVar - NCBI

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Items: 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24437901.	NM_001174096.2(ZEB1):c.1A>C (p.Met1Leu) GRCh37: Chr10:31608164 GRCh38: Chr10:31319235	ZEB1-AS1, LOC130003630, ZEB1		Posterior polymorphous corneal dystrophy 3	Pathogenic (Jan 23, 2023)	no assertion criteria provided
Select item 24437892.	NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter) GRCh37: Chr10:31810512 GRCh38: Chr10:31521584	ZEB1	S750, S532, S659, S662, S676, S683, S730, S733, S734, S736, S737, S751	Posterior polymorphous corneal dystrophy 3	Pathogenic (Jan 23, 2023)	no assertion criteria provided
Select item 15367483.	NM_001174096.2(ZEB1):c.699G>A (p.Thr233=) GRCh37: Chr10:31803542 GRCh38: Chr10:31514614	ZEB1		Posterior polymorphous corneal dystrophy 3, Corneal dystrophy, Fuchs endothelial, 6, not provided	Benign/Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7092504.	NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr) GRCh37: Chr10:31810674 GRCh38: Chr10:31521746	ZEB1	I737T, I788T, I790T, I805T, I713T, I784T, I804T, I586T, I787T, I791T, I716T, I730T	Posterior polymorphous corneal dystrophy 3, Corneal dystrophy, Fuchs endothelial, 6, not provided	Benign/Likely benign (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126325.	NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter) GRCh37: Chr10:31809611 GRCh38: Chr10:31520683	ZEB1	Q232, Q359, Q362, Q376, Q383, Q430, Q433, Q434, Q436, Q437, Q450, Q451	Posterior polymorphous corneal dystrophy 3	Pathogenic (Nov 1, 2005)	no assertion criteria provided
Select item 126316.	NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs) GRCh37: Chr10:31815733-31815734 GRCh38: Chr10:31526805-31526806	ZEB1	G906fs, G882fs, G885fs, G960fs, G974fs, G755fs, G953fs, G959fs, G973fs, G899fs, G956fs, G957fs	Posterior polymorphous corneal dystrophy 3	Pathogenic (Nov 1, 2005)	no assertion criteria provided