"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438063	NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs)	COL18A1, SLC19A1 (G1357fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 65410	NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	COL18A1, SLC19A1 (L1352fs +2 more)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic