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: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs1060499781
rs1060499781
CEP290
0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		0.700 0
dbSNP: rs1170451277
rs1170451277
CEP290
0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		0.700 0
dbSNP: rs1170451277
rs1170451277
CEP290
0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.700 0
dbSNP: rs1170451277
rs1170451277
CEP290
0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.700 0
dbSNP: rs1170451277
rs1170451277
CEP290
0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		0.700 0
dbSNP: rs1170451277
rs1170451277
CEP290
0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 0
dbSNP: rs1226324483
rs1226324483
CEP290
1.000 0.040 12 88083083 stop gained G/A snv
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		0.700 0
dbSNP: rs1278679056
rs1278679056
CEP290
0.882 0.200 12 88120162 stop gained T/A snv 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs1278679056
rs1278679056
CEP290
0.882 0.200 12 88120162 stop gained T/A snv 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs1278679056
rs1278679056
CEP290
0.882 0.200 12 88120162 stop gained T/A snv 7.0E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C1833999
Disease: Retinal pigmentary degeneration
Retinal pigmentary degeneration 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0