Gene: ANKRD11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132

2017
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132

2017
dbSNP: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132

2017
dbSNP: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132

2017
dbSNP: rs886039477
rs886039477
ANKRD11
C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132

2017
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318

2016
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318

2016
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
dbSNP: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
dbSNP: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016
dbSNP: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318

2016
dbSNP: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016
dbSNP: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
dbSNP: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318

2016
dbSNP: rs886039477
rs886039477
ANKRD11
C 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
dbSNP: rs886039477
rs886039477
ANKRD11
C 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016
dbSNP: rs886039477
rs886039477
ANKRD11
C 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318

2016
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714

2015
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714

2015
dbSNP: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015