BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309680
rs864309680
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0009691
Disease:
Congenital cataract 		G 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs864309702
rs864309702
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0009691
Disease:
Congenital cataract 		G 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs121434618
rs121434618
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		A 0.700 CausalMutation CLINVAR BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. 19367324 2009
dbSNP: rs121434618
rs121434618
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		A 0.700 CausalMutation CLINVAR Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. 15004558 2004
dbSNP: rs121434619
rs121434619
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs144722432
rs144722432
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0796016
Disease:
Microphthalmia, syndromic 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555913337
rs1555913337
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0010606
Disease:
Adenoid Cystic Carcinoma 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555915744
rs1555915744
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555915763
rs1555915763
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555915785
rs1555915785
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs1555915854
rs1555915854
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555918014
rs1555918014
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555918056
rs1555918056
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555919960
rs1555919960
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0010606
Disease:
Adenoid Cystic Carcinoma 		CGT 0.700 GeneticVariation CLINVAR
dbSNP: rs1569146193
rs1569146193
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs369432845
rs369432845
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs730880013
rs730880013
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs730880034
rs730880034
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs780712297
rs780712297
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0010606
Disease:
Adenoid Cystic Carcinoma 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs863224850
rs863224850
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C1846265
Disease:
Microphthalmia, syndromic 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs121434618
rs121434618
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0026010
Disease:
Microphthalmos 		0.030 GeneticVariation BEFREE The severe male X-linked recessive microphthalmia syndrome ('Lenz') usually includes developmental delay in addition to the eye findings and is caused by hypomorphic BCOR variants, mainly by a specific missense variant c.254C > T, p.(Pro85Leu). 29974297 2019
dbSNP: rs121434618
rs121434618
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0026010
Disease:
Microphthalmos 		0.030 GeneticVariation BEFREE In contrast to the previously published families, our findings demonstrate a large variability of BCOR-associated, syndromic phenotypes, indicating incomplete penetrance of p.Pro85Leu with regards to microphthalmia in males. 30450806 2018
dbSNP: rs121434618
rs121434618
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0796016
Disease:
Microphthalmia, syndromic 1 		0.030 GeneticVariation BEFREE In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. 23815237 2013
dbSNP: rs121434618
rs121434618
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0026010
Disease:
Microphthalmos 		0.030 GeneticVariation BEFREE We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. 19367324 2009
dbSNP: rs121434618
rs121434618
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0796016
Disease:
Microphthalmia, syndromic 1 		0.030 GeneticVariation BEFREE Nonetheless, linkage and subsequent mutation analysis revealed a single missense mutation (p.P85L) in BCOR in a large family with presumed Lenz microphthalmia syndrome (MAA2). 15770227 2005