"OMIM"[submitter] AND "KERA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6522	NM_007035.4(KERA):c.937C>T (p.Arg313Ter)	KERA (R313*)	Single nucleotide variant (nonsense)	Cornea plana 2	GPathogenic
Select item 56550	NM_007035.4(KERA):c.835C>T (p.Arg279Ter)	KERA (R279*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 6519	NM_007035.4(KERA):c.740A>G (p.Asn247Ser)	KERA (N247S)	Single nucleotide variant (missense variant)	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 225521	NM_007035.4(KERA):c.320T>G (p.Ile107Arg)	KERA (I107R)	Single nucleotide variant (missense variant)	Cornea plana 2	GPathogenic

ClinVar