"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548656	NM_001379500.1(COL18A1):c.1070dup (p.Gly358fs)	COL18A1 (G538fs +2 more)	Duplication (frameshift variant)	Knobloch syndrome	GPathogenic
Select item 684620	NM_001379500.1(COL18A1):c.3522_3523del (p.Leu1175fs)	COL18A1, SLC19A1 (L1352fs +2 more)	Deletion (frameshift variant)	Knobloch syndrome	GPathogenic
Select item 548657	NM_001379500.1(COL18A1):c.3959_3960insTGCC (p.Cys1321fs)	SLC19A1, COL18A1 (C1498fs +2 more)	Insertion (frameshift variant)	Knobloch syndrome	GPathogenic

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