"3billion"[submitter] AND "CEP290"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497937	NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)	CEP290 (W2266*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 10 +10 more	GPathogenic
Select item 1333	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	CEP290 (G1890*)	Single nucleotide variant (nonsense)	Nephronophthisis +13 more	GPathogenic/Likely pathogenic
Select item 1333520	NM_025114.4(CEP290):c.4860del (p.Phe1620fs)	CEP290 (F1620fs)	Deletion (frameshift variant)	Meckel syndrome, type 4	GPathogenic
Select item 217639	NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	CEP290 (R1508*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +8 more	GPathogenic
Select item 950504	NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	CEP290 (R1271*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +5 more	GPathogenic
Select item 1705689	NM_025114.4(CEP290):c.2053-22A>G	CEP290	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 14	GUncertain significance
Select item 217631	NM_025114.4(CEP290):c.1623+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 14 +5 more	GPathogenic

ClinVar