CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225187
rs863225187 		1.000 0.200 12 88055597 stop gained G/T snv
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587783017
rs587783017 		0.851 0.200 12 88055667 frameshift variant T/-;TT delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2015 2015
dbSNP: rs587783017
rs587783017 		0.851 0.200 12 88055667 frameshift variant T/-;TT delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587783017
rs587783017 		0.851 0.200 12 88055667 frameshift variant T/-;TT delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587783017
rs587783017 		0.851 0.200 12 88055667 frameshift variant T/-;TT delins
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs1060499781
rs1060499781 		0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2006 2010
dbSNP: rs1060499781
rs1060499781 		0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 3 2006 2010
dbSNP: rs1060499781
rs1060499781 		0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2006 2010
dbSNP: rs1060499781
rs1060499781 		0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs760540562
rs760540562 		0.882 0.200 12 88058868 stop gained C/T snv 1.3E-04 2.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs760540562
rs760540562 		0.882 0.200 12 88058868 stop gained C/T snv 1.3E-04 2.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs760540562
rs760540562 		0.882 0.200 12 88058868 stop gained C/T snv 1.3E-04 2.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs201218801
rs201218801 		0.851 0.240 12 88059897 splice donor variant C/T snv 1.2E-04 6.3E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2006 2010
dbSNP: rs201218801
rs201218801 		0.851 0.240 12 88059897 splice donor variant C/T snv 1.2E-04 6.3E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 3 2006 2010
dbSNP: rs201218801
rs201218801 		0.851 0.240 12 88059897 splice donor variant C/T snv 1.2E-04 6.3E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2006 2010
dbSNP: rs201218801
rs201218801 		0.851 0.240 12 88059897 splice donor variant C/T snv 1.2E-04 6.3E-05
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs117852025
rs117852025 		1.000 0.200 12 88060951 missense variant A/G snv 7.6E-03 5.1E-03
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs766670248
rs766670248 		0.882 0.200 12 88060995 splice acceptor variant C/T snv 4.5E-05 1.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs766670248
rs766670248 		0.882 0.200 12 88060995 splice acceptor variant C/T snv 4.5E-05 1.4E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs766670248
rs766670248 		0.882 0.200 12 88060995 splice acceptor variant C/T snv 4.5E-05 1.4E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs771454167
rs771454167 		0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs771454167
rs771454167 		0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs771454167
rs771454167 		0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs771454167
rs771454167 		0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.700 0
dbSNP: rs771454167
rs771454167 		0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0