ClinVar for MedGen (Select 346616) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628328	NM_007035.4(KERA):c.229T>C (p.Tyr77His)	KERA (Y77H)	Single nucleotide variant (missense variant)	Cornea plana 2	GUncertain significance
Select item 2628327	NM_007035.4(KERA):c.331G>A (p.Gly111Arg)	KERA (G111R)	Single nucleotide variant (missense variant)	Cornea plana 2	GUncertain significance
Select item 1687461	NM_007035.4(KERA):c.623C>G (p.Pro208Arg)	KERA (P208R)	Single nucleotide variant (missense variant)	Cornea plana 2	GUncertain significance
Select item 1174695	NM_007035.4(KERA):c.69G>A (p.Val23=)	KERA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 225521	NM_007035.4(KERA):c.320T>G (p.Ile107Arg)	KERA (I107R)	Single nucleotide variant (missense variant)	Cornea plana 2	GPathogenic
Select item 56550	NM_007035.4(KERA):c.835C>T (p.Arg279Ter)	KERA (R279*)	Single nucleotide variant (nonsense)	Cornea plana 2 +1 more	GPathogenic
Select item 56549	NM_007035.4(KERA):c.391A>G (p.Asn131Asp)	KERA (N131D)	Single nucleotide variant (missense variant)	Cornea plana 2	GLikely pathogenic
Select item 56548	NM_007035.4(KERA):c.1026del (p.Cys343fs)	KERA (C343fs)	Deletion (frameshift variant)	Cornea plana 2	GConflicting classifications of pathogenicity
Select item 6522	NM_007035.4(KERA):c.937C>T (p.Arg313Ter)	KERA (R313*)	Single nucleotide variant (nonsense)	Cornea plana 2	GPathogenic
Select item 6521	NM_007035.4(KERA):c.644C>A (p.Thr215Lys)	KERA (T215K)	Single nucleotide variant (missense variant)	Cornea plana 2	GPathogenic
Select item 6520	NM_007035.4(KERA):c.520C>T (p.Gln174Ter)	KERA (Q174*)	Single nucleotide variant (nonsense)	Cornea plana 2	GPathogenic
Select item 6519	NM_007035.4(KERA):c.740A>G (p.Asn247Ser)	KERA (N247S)	Single nucleotide variant (missense variant)	Cornea plana 2	GPathogenic