ClinVar for MedGen (Select 343836) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22231741.	NM_021220.4(OVOL2):c.253G>C (p.Gly85Arg) GRCh37: Chr20:18037369 GRCh38: Chr20:18056725	OVOL2	G85R	Posterior polymorphous corneal dystrophy 1, Inborn genetic diseases	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13269822.	NM_021220.4(OVOL2):c.512-4T>G GRCh37: Chr20:18005600 GRCh38: Chr20:18024956	OVOL2		not provided, Posterior polymorphous corneal dystrophy 1	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13002113.	NM_001174096.2(ZEB1):c.688-1G>A GRCh37: Chr10:31803530 GRCh38: Chr10:31514602	ZEB1		Posterior polymorphous corneal dystrophy 1	Likely pathogenic (Nov 11, 2020)	criteria provided, single submitter
Select item 11783844.	NM_021220.4(OVOL2):c.511+7G>A GRCh37: Chr20:18022171 GRCh38: Chr20:18041527	OVOL2		Posterior polymorphous corneal dystrophy 1, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7690675.	NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) GRCh37: Chr20:3208967 GRCh38: Chr20:3228321	SLC4A11	M848I, M875I, M794I, M832I	not specified, Posterior polymorphous corneal dystrophy 1, not provided, Corneal dystrophy	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 2248406.	NM_021220.4(OVOL2):c.-274T>G GRCh37: Chr20:18038552 GRCh38: Chr20:18057908	OVOL2		Posterior polymorphous corneal dystrophy 1	Pathogenic (Oct 13, 2021)	no assertion criteria provided
Select item 2248397.	NM_001303461.1(OVOL2):c.-297+949T>C GRCh37: Chr20:18038585 GRCh38: Chr20:18057941	OVOL2		Posterior polymorphous corneal dystrophy 1	Pathogenic (Oct 13, 2021)	no assertion criteria provided
Select item 2248388.	NM_001303461.1(OVOL2):c.-297+886T>C GRCh37: Chr20:18038648 GRCh38: Chr20:18058004	OVOL2		Posterior polymorphous corneal dystrophy 1	Pathogenic (Oct 13, 2021)	no assertion criteria provided
Select item 2248379.	NM_001303461.1(OVOL2):c.-297+895_-297+916dup GRCh37: Chr20:18038617-18038618 GRCh38: Chr20:18057973-18057974	OVOL2		Posterior polymorphous corneal dystrophy 1	Pathogenic (Oct 13, 2021)	no assertion criteria provided
Select item 524810.	NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) GRCh37: Chr20:25060096 GRCh38: Chr20:25079460	VSX1	G160D	Polymorphous corneal dystrophy, not provided, not specified	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations