C1857821[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99857	NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	CEP290 (E1656*)	Single nucleotide variant (nonsense)	CEP290-related disorder +8 more	GPathogenic/Likely pathogenic
Select item 635087	NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	CEP290 (K1598fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 10 +5 more	GPathogenic/Likely pathogenic
Select item 1297148	NM_025114.4(CEP290):c.4705-2A>C	CEP290	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 10 +4 more	GConflicting classifications of pathogenicity
Select item 449448	NM_025114.4(CEP290):c.4438-3del	CEP290	Deletion (intron variant)	Leber congenital amaurosis 10 +7 more	GConflicting classifications of pathogenicity
Select item 286797	NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)	CEP290 (D321E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +9 more	GUncertain significance
Select item 813995	NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)	CEP290 (E277*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 10 +7 more	GPathogenic/Likely pathogenic

ClinVar