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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205102	NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	CLN3 (G419E +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 3556	NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	CLN3 (E295K +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic