"Blueprint Genetics"[submitter] AND "COL18A1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866461	NM_001379500.1(COL18A1):c.688dup (p.Gln230fs)	COL18A1 (Q645fs +2 more)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866655	NM_001379500.1(COL18A1):c.1248+1G>A	COL18A1	Single nucleotide variant (splice donor 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

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