C1641846[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7873	NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)	TGFBI (R124S)	Single nucleotide variant (missense variant)	Epithelial-stromal TGFBI dystrophy	GPathogenic
Select item 7866	NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)	TGFBI (R555W)	Single nucleotide variant (missense variant)	Groenouw corneal dystrophy type I +7 more	GPathogenic