ClinVar for MedGen (Select 343836) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2223174	NM_021220.4(OVOL2):c.253G>C (p.Gly85Arg)	OVOL2 (G85R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1326982	NM_021220.4(OVOL2):c.512-4T>G	OVOL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1178384	NM_021220.4(OVOL2):c.511+7G>A	OVOL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 769067	NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)	SLC4A11 (M848I +3 more)	Single nucleotide variant (missense variant +1 more)	Posterior polymorphous corneal dystrophy 1 +4 more	GConflicting classifications of pathogenicity
Select item 224840	NM_021220.4(OVOL2):c.-274T>G	OVOL2	Single nucleotide variant (5 prime UTR variant +1 more)	Posterior polymorphous corneal dystrophy 1	GPathogenic
Select item 224839	NM_001303461.1(OVOL2):c.-297+949T>C	OVOL2	Single nucleotide variant (intron variant)	Posterior polymorphous corneal dystrophy 1	GPathogenic
Select item 224838	NM_001303461.1(OVOL2):c.-297+886T>C	OVOL2	Single nucleotide variant (intron variant)	Posterior polymorphous corneal dystrophy 1	GPathogenic
Select item 224837	NM_001303461.1(OVOL2):c.-297+895_-297+916dup	OVOL2	Duplication (intron variant)	Posterior polymorphous corneal dystrophy 1	GPathogenic
Select item 5248	NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)	VSX1 (G160D)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +2 more	GConflicting classifications of pathogenicity