"Institute of Medical Molecular Genetics, University of Zurich"[submit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915449	NM_031433.4(MFRP):c.1180G>A (p.Val394Met)	C1QTNF5, MFRP (V394M)	Single nucleotide variant (5 prime UTR variant +1 more)	Nanophthalmos 2	GPathogenic
Select item 915451	NM_031433.4(MFRP):c.899-3C>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Nanophthalmos 2	GPathogenic
Select item 915447	NM_031433.4(MFRP):c.497C>T (p.Pro166Leu)	C1QTNF5, MFRP (P166L)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely pathogenic

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