Gene: ANKRD11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1555529572
rs1555529572
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: 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 Clinical and genetic aspects of KBG syndrome. 27667800

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: rs1555529572
rs1555529572
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: rs1555529572
rs1555529572
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: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714

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: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714

2015
dbSNP: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015
dbSNP: rs797044890
rs797044890
ANKRD11
T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 25125236

2014
dbSNP: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 25125236

2014
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. 23885231

2013
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 23494856

2013
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435

2013
dbSNP: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435

2013
dbSNP: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. 23885231

2013
dbSNP: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 23494856

2013
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 21782149

2011
dbSNP: rs1555529572
rs1555529572
ANKRD11
T 0.700 CausalMutation CLINVAR Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 21782149

2011
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. 17508425

2007
dbSNP: rs1555528558
rs1555528558
ANKRD11
CT 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007