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: rs61941020
rs61941020 		1.000 0.040 12 88079219 missense variant C/T snv 1.1E-02 6.5E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2018 2018
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: rs369523378
rs369523378 		0.882 0.200 12 88083232 splice acceptor variant T/C snv 7.0E-05 4.5E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2006 2010
dbSNP: rs369523378
rs369523378 		0.882 0.200 12 88083232 splice acceptor variant T/C snv 7.0E-05 4.5E-04
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: rs369523378
rs369523378 		0.882 0.200 12 88083232 splice acceptor variant T/C snv 7.0E-05 4.5E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2006 2010
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2006 2012
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 4 2006 2012
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
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 4 2006 2012
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
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: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
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: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
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: rs281865192
rs281865192 		0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs62640570
rs62640570 		0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2006 2016
dbSNP: rs62640570
rs62640570 		0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 5 2006 2016
dbSNP: rs62640570
rs62640570 		0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-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 1.000 5 2006 2016
dbSNP: rs62640570
rs62640570 		0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-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: rs62640570
rs62640570 		0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs760915898
rs760915898 		0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2006 2010
dbSNP: rs760915898
rs760915898 		0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-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 1.000 3 2006 2010
dbSNP: rs760915898
rs760915898 		0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2006 2010
dbSNP: rs760915898
rs760915898 		0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-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 0