ClinVar Miner

Variants in gene ANKRD11

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
226 62 160 230 86 2 706

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 105 27 46 102 39 0 314
KBG syndrome 103 23 73 60 42 2 302
Autism spectrum disorder 1 0 30 89 30 0 150
Inborn genetic diseases 31 1 2 0 0 0 34
Intellectual disability 12 4 5 10 0 0 31
not specified 0 0 6 11 12 0 29
Global developmental delay 13 3 0 0 0 0 16
Rare genetic intellectual disability 3 3 0 0 0 0 6
See cases 6 0 0 0 0 0 6
Abnormality of the nervous system 0 1 0 0 0 0 1
Astigmatism; Epicanthus; Cryptorchidism; Hypertelorism; Esotropia; Global developmental delay; Retrognathia; Hypermetropia; Wide nasal bridge; Intellectual disability 1 0 0 0 0 0 1
Chromatinopathy 0 1 0 0 0 0 1
Global developmental delay; Ptosis; Clinodactyly of the 5th finger; Conductive hearing impairment; Intellectual disability; Short foot; Short palm; Unilateral cryptorchidism 0 1 0 0 0 0 1
Global developmental delay; Seizures; Abnormal facial shape; Conductive hearing impairment; Delayed speech and language development 1 0 0 0 0 0 1
Global developmental delay; Seizures; Behavioral abnormality; Macrocephalus; Hand tremor 0 0 1 0 0 0 1
Moderate intellectual deficiency 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 0 41 126 60 0 258
Ambry Genetics 32 1 32 89 30 0 184
GeneDx 80 15 14 5 6 0 120
Athena Diagnostics Inc 0 0 10 9 33 0 52
Baylor Genetics 21 1 22 0 0 0 44
CeGaT Praxis fuer Humangenetik Tuebingen 12 3 14 13 0 0 42
Autoinflammatory diseases unit,CHU de Montpellier 16 5 0 0 0 0 21
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 1 0 10 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 15 2 0 0 0 0 17
Institute for Human Genetics, University Hospital Essen 13 3 0 0 0 0 16
Diagnostic Laboratory, Strasbourg University Hospital 10 1 4 0 0 0 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 11 1 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 4 5 2 0 0 12
Genetic Services Laboratory, University of Chicago 2 0 4 3 1 0 10
Institute of Human Genetics, University of Leipzig Medical Center 7 3 1 0 0 0 10
Service de Génétique Moléculaire,Hôpital Robert Debré 3 4 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 6
GenomeConnect - Simons Searchlight 5 0 1 0 0 0 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 5 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 1 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 2 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 0 1 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 3 0 0 1 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 1 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 3 0 0 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 0 1 0 0 0 0 1

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