"Gharavi Laboratory, Columbia University"[submitter] AND "CEP290"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591445	NM_025114.4(CEP290):c.4704+1G>T	CEP290	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 591192	NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)	CEP290 (A1277L)	Indel (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 591656	NM_025114.4(CEP290):c.2738_2742del (p.Glu913fs)	CEP290 (E913fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591218	NM_025114.4(CEP290):c.2708T>G (p.Leu903Ter)	CEP290 (L903*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591805	NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)	CEP290 (E620*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 591092	NM_025114.4(CEP290):c.1392_1393insCTACTTA (p.Ile465fs)	CEP290 (I465fs)	Insertion (frameshift variant)	not provided	GUncertain significance

ClinVar