ClinVar Miner

Variants in gene ATRX

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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
98 153 1131 1414 298 85 2779

Condition and significance breakdown #

Total conditions: 68
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alpha thalassemia-X-linked intellectual disability syndrome 51 43 677 1296 271 4 2212
not provided 25 31 366 134 59 6 584
Inborn genetic diseases 4 7 141 70 26 0 248
not specified 0 0 57 49 21 21 134
ATRX-related disorder 4 3 32 39 2 2 82
Intellectual disability-hypotonic facies syndrome, X-linked, 1 13 16 41 1 2 0 70
Neoplasm 0 35 5 0 0 0 40
Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2 5 20 3 1 0 31
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2 2 11 4 0 0 19
Glioma susceptibility 1 0 0 0 0 0 17 17
ATR-X-related syndrome 2 1 7 2 0 0 12
Ovarian serous cystadenocarcinoma 0 0 0 0 0 10 10
Intellectual disability 1 2 3 4 0 0 9
Diffuse midline glioma, H3 K27M-mutant 3 5 0 0 0 0 8
Intellectual disability-hypotonic facies syndrome, X-linked 8 0 0 0 0 0 8
Neuroblastoma 1 6 0 0 0 0 7
Gastric cancer 0 0 0 0 0 5 5
See cases 1 0 3 0 1 0 5
Familial cancer of breast 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Acquired hemoglobin H disease 1 0 2 0 0 0 3
Acute myeloid leukemia 0 0 0 0 0 3 3
History of neurodevelopmental disorder 0 1 2 0 0 0 3
Adrenal cortex carcinoma 0 2 0 0 0 0 2
Alpha-thalassemia/intellectual disability syndrome 1 1 0 0 0 0 2
Astrocytoma IDH-mutant 2 0 0 0 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Developmental disorder 0 0 2 0 0 0 2
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 2 0 0 0 0 0 2
Global developmental delay; Microcephaly 0 2 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Schizophrenia 0 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Abnormality of the nervous system 0 1 0 0 0 0 1
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome 0 0 1 0 0 0 1
Astrocytoma, anaplastic 1 0 0 0 0 0 1
Atypical teratoid rhabdoid tumor 1 0 0 0 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Ganglioneuroblastoma 0 1 0 0 0 0 1
Genetic developmental and epileptic encephalopathy 0 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 1 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
High-grade astrocytoma with piloid features 1 0 0 0 0 0 1
IDH-wildtype glioblastoma 0 1 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Male infertility with azoospermia or oligozoospermia due to single gene mutation 0 1 0 0 0 0 1
Malignant glioma 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Neonatal hypotonia 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Neuroendocrine tumor of pancreas 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Oligodendroglioma 0 0 1 0 0 0 1
Osteosarcoma 1 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Pineal parenchymal tumor of intermediate differentiation 0 1 0 0 0 0 1
Renier-Gabreels-Jasper syndrome 0 0 0 0 0 1 1
Short stature; Absent speech; Microcephaly; Low-set, posteriorly rotated ears; Generalized hypotonia; Drooling; Psychomotor deterioration 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
X-linked ATRX-related disorders 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 30 9 501 1260 271 0 2071
GeneDx 17 21 260 85 56 0 439
Natera, Inc. 3 11 187 57 13 0 271
Ambry Genetics 4 7 143 70 26 0 250
PreventionGenetics, part of Exact Sciences 3 3 31 39 4 0 80
CeGaT Center for Human Genetics Tuebingen 5 1 31 42 0 0 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 5 32 17 3 0 61
Eurofins Ntd Llc (ga) 8 1 34 4 13 0 60
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 59 59
Genetic Services Laboratory, University of Chicago 1 0 25 22 8 0 56
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 35 5 0 0 0 41
Revvity Omics, Revvity 0 2 27 0 0 0 29
Breakthrough Genomics, Breakthrough Genomics 0 0 1 11 14 0 26
OMIM 24 0 0 0 0 0 24
3billion 6 1 11 4 0 0 22
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 11 11 0 0 0 0 22
Fulgent Genetics, Fulgent Genetics 1 4 13 2 1 0 21
ITMI 0 0 0 0 0 21 21
Athena Diagnostics 0 0 5 4 10 0 19
Baylor Genetics 3 3 10 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 10 3 0 15
Institute of Human Genetics, University of Leipzig Medical Center 3 3 5 2 1 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 6 1 1 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 4 6 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 3 4 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 10 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 3 1 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 6 2 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 7 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 6 0 1 0 8
New York Genome Center 0 0 8 0 0 0 8
Genome-Nilou Lab 0 0 5 0 2 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 2 3 0 0 6
MVZ Martinsried, Medicover Genetics 0 5 1 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 3 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 0 2 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 2 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 2 0 5
Genome Sciences Centre, British Columbia Cancer Agency 0 3 2 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 3 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 4 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 2 2 0 5
Mendelics 0 3 2 0 0 0 5
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 5 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 3 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 1 3 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 1 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 0 1 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 2 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Research Institute for Clinical Oncology, Saitama Cancer Center 0 3 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 2 0 0 0 2
Department of Psychiatry, The University of Hong Kong 0 0 2 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Raymond Lab, University of Cambridge 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 1
Tampere Brain Tumor Research Consortium, University of Tampere 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Zero Childhood Cancer Program, Children's Cancer Institute 0 1 0 0 0 0 1

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