C1970161[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	CEP290 (G1890*)	Single nucleotide variant (nonsense)	Meckel syndrome, type 4 +13 more	GPathogenic/Likely pathogenic
Select item 684612	NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)	CEP290 (T1602M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +7 more	GConflicting classifications of pathogenicity
Select item 950504	NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	CEP290 (R1271*)	Single nucleotide variant (nonsense)	Meckel syndrome, type 4 +4 more	GPathogenic
Select item 1071036	NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	CEP290 (R1237fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +5 more	GPathogenic/Likely pathogenic
Select item 281411	NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	CEP290 (R908*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +10 more	GPathogenic/Likely pathogenic
Select item 438223	NM_025114.4(CEP290):c.2390del (p.Lys797fs)	CEP290 (K797fs)	Deletion (frameshift variant)	Meckel-Gruber syndrome +10 more	GPathogenic
Select item 1501053	NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)	CEP290 (E23del)	Microsatellite (inframe_deletion)	Familial aplasia of the vermis +8 more	GUncertain significance

ClinVar