CENPJ, centromere protein J, 55835

N. diseases: 150; N. variants: 24
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: rs759188041
rs759188041 		0.882 0.240 13 24912736 frameshift variant -/T delins 3.2E-05 3.5E-05
CUI: C4021030
Disease: Type III lissencephaly
Type III lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs759188041
rs759188041 		0.882 0.240 13 24912736 frameshift variant -/T delins 3.2E-05 3.5E-05
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs759188041
rs759188041 		0.882 0.240 13 24912736 frameshift variant -/T delins 3.2E-05 3.5E-05
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs763715733
rs763715733 		0.925 0.120 13 24885387 splice acceptor variant C/T snv 7.0E-06
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs763715733
rs763715733 		0.925 0.120 13 24885387 splice acceptor variant C/T snv 7.0E-06
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs776528706
rs776528706 		1.000 13 24884443 inframe insertion -/CTT delins 3.6E-05 3.5E-05
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs777893196
rs777893196 		1.000 13 24906631 frameshift variant AAGA/- delins
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs797045447
rs797045447 		1.000 13 24906699 stop gained T/A snv
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs797045448
rs797045448 		1.000 13 24906187 frameshift variant AG/- del
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs797045449
rs797045449 		1.000 13 24906156 frameshift variant C/- delins
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs797045450
rs797045450 		1.000 13 24906069 stop gained G/A snv 8.0E-06
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs797045452
rs797045452 		1.000 13 24892851 frameshift variant -/T delins
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs797045454
rs797045454 		0.925 0.120 13 24908093 frameshift variant CT/- delins
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045454
rs797045454 		0.925 0.120 13 24908093 frameshift variant CT/- delins
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs864321658
rs864321658 		1.000 13 24885671 splice acceptor variant C/G snv
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.700 0
dbSNP: rs121434311
rs121434311 		0.882 0.120 13 24884083 missense variant T/A snv 4.0E-06
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011