Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs137852833
rs137852833
CEP290
1.000 0.040 12 88111320 stop gained A/C snv 5.3E-06 2.1E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 0
dbSNP: rs137852835
rs137852835
CEP290
1.000 0.240 12 88130324 stop gained G/A;C snv 4.1E-06; 4.1E-06
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.700 0
dbSNP: rs1465414886
rs1465414886
CEP290
1.000 0.200 12 88118660 stop gained G/A;C snv
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		0.700 0
dbSNP: rs1465414886
rs1465414886
CEP290
1.000 0.200 12 88118660 stop gained G/A;C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1555201796
rs1555201796
CEP290
0.882 0.200 12 88071370 frameshift variant CTCGT/- del
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs1555201796
rs1555201796
CEP290
0.882 0.200 12 88071370 frameshift variant CTCGT/- del
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.700 0
dbSNP: rs1555201796
rs1555201796
CEP290
0.882 0.200 12 88071370 frameshift variant CTCGT/- del
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs1555202126
rs1555202126
CEP290
0.925 0.120 12 88071929 splice region variant G/C snv
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		0.700 0
dbSNP: rs1555202126
rs1555202126
CEP290
0.925 0.120 12 88071929 splice region variant G/C snv
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.700 0
dbSNP: rs1555205328
rs1555205328
CEP290
0.882 0.200 12 88080196 stop gained C/A snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.700 0
dbSNP: rs1555205328
rs1555205328
CEP290
0.882 0.200 12 88080196 stop gained C/A snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs1555205328
rs1555205328
CEP290
0.882 0.200 12 88080196 stop gained C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs1555208870
rs1555208870
CEP290
1.000 0.200 12 88087814 frameshift variant -/T delins
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		0.700 0