ClinVar Miner

Variants in gene ASXL1

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
112 58 1429 1096 123 40 2613

Condition and significance breakdown #

Total conditions: 43
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 11 0 958 887 0 0 1856
not provided 62 15 566 425 123 2 1104
Bohring-Opitz syndrome 47 31 34 5 54 0 166
not specified 0 0 15 18 12 27 64
ASXL1-related disorder 3 1 16 36 6 0 62
Bohring-Opitz syndrome; Myelodysplastic syndrome 0 2 2 6 0 0 10
Intellectual disability 0 0 4 5 0 0 9
Myelodysplastic syndrome 2 3 4 0 0 0 9
Neoplasm 1 4 0 0 0 0 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Autism spectrum disorder 0 1 0 1 0 0 2
Chronic myeloid leukemia 0 0 2 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Microcephaly 1 0 1 0 0 0 2
Rubinstein Taybi like syndrome 0 2 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Abnormal brain morphology 0 1 0 0 0 0 1
Adrenal cortex carcinoma 0 1 0 0 0 0 1
Atypical chronic myeloid leukemia, BCR-ABL1 negative 1 0 0 0 0 0 1
Colorectal cancer 0 0 0 0 0 1 1
Congenital cerebellar hypoplasia 0 0 1 0 0 0 1
Developmental delay; dystrophia 1 0 0 0 0 0 1
Diffuse midline glioma, H3 K27M-mutant 1 0 0 0 0 0 1
Ependymoma 0 1 0 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Global developmental delay; Floppy infant 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hereditary cancer 0 0 1 0 0 0 1
Hypertrichosis; Global developmental delay; Feeding difficulties; Abnormal corpus callosum morphology; Delayed speech and language development; Glabellar hemangioma; Small for gestational age; Delayed gross motor development; Prominent metopic ridge; Severe intellectual disability 1 0 0 0 0 0 1
Juvenile myelomonocytic leukemia 0 0 1 0 0 0 1
Juvenile myelomonocytic leukemia; Cafe-au-lait spot 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Myelodysplasia 1 0 0 0 0 0 1
Neurodevelopmental abnormality 1 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Posterior fossa group A ependymoma 0 1 0 0 0 0 1
Primary brain neoplasm 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizure; Hypertonia; Delayed speech and language development; Moderate global developmental delay 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 84
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 11 0 958 887 0 0 1856
Labcorp Genetics (formerly Invitae), Labcorp 32 1 478 343 88 0 942
GeneDx 27 6 77 53 59 0 222
CeGaT Center for Human Genetics Tuebingen 2 6 12 78 7 0 105
PreventionGenetics, part of Exact Sciences 2 1 16 36 6 0 61
Genome-Nilou Lab 0 0 0 0 54 0 54
Breakthrough Genomics, Breakthrough Genomics 0 0 2 16 22 0 40
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 3 13 9 0 0 34
ITMI 0 0 0 0 0 27 27
Revvity Omics, Revvity 1 0 14 0 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 8 0 13
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 13 13
Baylor Genetics 5 2 4 0 0 0 11
3billion 4 6 0 0 0 0 10
Eurofins Ntd Llc (ga) 0 1 6 0 3 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 10 0 10
Medgenome Labs Pvt Ltd 3 7 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 1 3 0 0 9
Fulgent Genetics, Fulgent Genetics 0 1 1 6 0 0 8
OMIM 8 0 0 0 0 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 7 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 4 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 2 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 3 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 6
Mendelics 2 0 4 0 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 2 0 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 4 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 3 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 3 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 1 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 1 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Genomics Lab, University of Education 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Pediatrics, Government Thiruvarur Medical College and Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Klco Lab, St Judes Childrens Research Hospital 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Medical Genetics and Prenatal Diagnosis Center, Guangxi Academy of Medical Sciences and the People’s Hospital of Guangxi Zhuang Autonomous Region 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.