Gene: ANKRD11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714

2015
dbSNP: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015
dbSNP: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714

2015
dbSNP: rs886039477
rs886039477
ANKRD11
C 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015
dbSNP: rs886039477
rs886039477
ANKRD11
C 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 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 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 25125236

2014
dbSNP: rs1555529297
rs1555529297
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: rs878855327
rs878855327
ANKRD11
CG 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: rs886039477
rs886039477
ANKRD11
C 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: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 23494856

2013
dbSNP: rs1555528357
rs1555528357
ANKRD11
G 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: rs1555528357
rs1555528357
ANKRD11
G 0.700 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435

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

2013
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: rs1555529297
rs1555529297
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: rs1555529297
rs1555529297
ANKRD11
T 0.700 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435

2013
dbSNP: rs1555529297
rs1555529297
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: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435

2013
dbSNP: rs878855327
rs878855327
ANKRD11
CG 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: rs878855327
rs878855327
ANKRD11
CG 0.700 CausalMutation CLINVAR Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 23494856

2013
dbSNP: rs886039477
rs886039477
ANKRD11
C 0.700 CausalMutation CLINVAR Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 23494856

2013
dbSNP: rs886039477
rs886039477
ANKRD11
C 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: rs886039477
rs886039477
ANKRD11
C 0.700 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435

2013