ClinVar Miner

Variants in gene DMXL2

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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 association not provided total
56 19 854 884 125 1 42 1905

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 46 11 628 854 122 0 1 1633
Inborn genetic diseases 0 0 325 19 0 0 0 344
DMXL2-related disorder 0 1 27 34 13 0 0 75
not specified 1 0 24 17 29 0 0 70
Developmental and epileptic encephalopathy, 81 6 1 9 0 12 0 0 28
Hearing loss, autosomal dominant 71 2 4 6 0 12 0 0 23
Polyendocrine-polyneuropathy syndrome 1 0 7 0 12 0 0 19
Nonsyndromic genetic hearing loss 0 0 8 0 0 0 0 8
Polyendocrine-polyneuropathy syndrome; Hearing loss, autosomal dominant 71; Developmental and epileptic encephalopathy, 81 0 0 5 2 1 0 0 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 8 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 0 3 3
See cases 0 1 2 0 0 0 0 3
Amenorrhea 0 0 2 0 0 0 0 2
Cervical cancer 0 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
Autism spectrum disorder 0 0 0 0 0 1 0 1
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Hearing impairment 0 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 0 1
Polyendocrine-polyneuropathy syndrome; Developmental and epileptic encephalopathy, 81 0 1 0 0 0 0 0 1
Spasticity 0 0 1 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 46 9 574 828 86 0 0 1543
Ambry Genetics 0 0 325 19 0 0 0 344
CeGaT Center for Human Genetics Tuebingen 0 1 33 56 4 0 0 94
GeneDx 0 1 45 1 45 0 0 92
PreventionGenetics, part of Exact Sciences 0 0 27 34 13 0 0 74
Breakthrough Genomics, Breakthrough Genomics 0 0 3 6 45 0 0 54
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 15 26 0 0 46
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 41 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 24 11 0 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 4 8 0 0 17
Genome-Nilou Lab 0 0 0 0 12 0 0 12
Revvity Omics, Revvity 0 0 12 0 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 5 2 1 0 0 8
OMIM 8 0 0 0 0 0 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 3 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 6 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 1 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 0 2
King Laboratory, University of Washington 0 2 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 0 2 0 0 0 0 2
3billion 1 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1

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