BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
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: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 1.000 2 2004 2009
dbSNP: rs864309680
rs864309680 		1.000 0.200 X 40062174 frameshift variant TCTC/- del
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309702
rs864309702 		1.000 0.200 X 40074207 frameshift variant AACT/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121434619
rs121434619 		1.000 0.120 X 40072420 stop gained G/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs144722432
rs144722432 		1.000 0.080 X 40073311 missense variant C/T snv 6.7E-04 5.2E-04
CUI: C0796016
Disease: Microphthalmia, syndromic 1
Microphthalmia, syndromic 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555913337
rs1555913337 		1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 0
dbSNP: rs1555915744
rs1555915744 		1.000 0.120 X 40064393 inframe deletion GTCTCAGTG/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555915763
rs1555915763 		1.000 0.120 X 40064427 frameshift variant TT/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555915785
rs1555915785 		1.000 0.120 X 40064449 frameshift variant -/G delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555915854
rs1555915854 		1.000 0.120 X 40064570 frameshift variant C/- del
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555918014
rs1555918014 		1.000 0.120 X 40072857 frameshift variant CT/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555918056
rs1555918056 		X 40072918 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1555919960
rs1555919960 		1.000 0.040 X 40074947 frameshift variant -/GT ins
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 0
dbSNP: rs1569146193
rs1569146193 		1.000 0.120 X 40062394 splice acceptor variant C/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs369432845
rs369432845 		X 40062275 missense variant G/A;T snv 4.4E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs730880013
rs730880013 		1.000 0.120 X 40072733 frameshift variant G/- del
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730880034
rs730880034 		1.000 0.120 X 40062259 frameshift variant TGGCA/- delins
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs780712297
rs780712297 		1.000 0.040 X 40062856 stop gained C/A;T snv 1.6E-05
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 0
dbSNP: rs863224850
rs863224850 		1.000 0.120 X 40062808 stop gained G/A snv
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.030 1.000 3 2009 2019
dbSNP: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0796016
Disease: Microphthalmia, syndromic 1
Microphthalmia, syndromic 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.030 1.000 3 2004 2013
dbSNP: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2019 2019
dbSNP: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0015411
Disease: Eye Manifestations
Eye Manifestations 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121434618
rs121434618 		0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
Thalidomide embryopathy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2004 2004