"Laboratory of Genetics in Ophthalmology, Institut Imagine"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978446	NC_000004.12:g.(?_154740841)_(154749136_?)del	LRAT	Deletion	Leber congenital amaurosis 14	GPathogenic
Select item 978450	NM_004744.5(LRAT):c.149T>G (p.Val50Gly)	LRAT (V50G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 14	GLikely pathogenic
Select item 5336	NM_004744.5(LRAT):c.217_218del (p.Met73fs)	LRAT (M73fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 842208	NM_004744.5(LRAT):c.299G>A (p.Gly100Asp)	LRAT (G100D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978447	NM_004744.5(LRAT):c.481T>C (p.Cys161Arg)	LRAT (C161R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 14	GLikely pathogenic
Select item 978448	NM_004744.5(LRAT):c.487C>T (p.His163Tyr)	LRAT (H163Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 978449	NM_004744.5(LRAT):c.554_555del (p.Val185fs)	LRAT (V185fs)	Microsatellite (frameshift variant)	not provided	GPathogenic

ClinVar