ClinVar Miner

Variants in gene VPS13A

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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
318 272 1040 2217 308 81 3944

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 287 93 430 2150 291 0 3184
VPS13A-related neurodegenerative disease 63 202 419 97 106 3 828
Inborn genetic diseases 2 0 346 51 0 0 399
not specified 1 0 27 10 50 0 84
VPS13A-related disorder 1 2 3 33 7 0 46
Malignant tumor of esophagus 0 0 0 0 0 12 12
Uterine corpus endometrial carcinoma 0 0 0 0 0 11 11
Gastric cancer 0 0 0 0 0 9 9
Nonpapillary renal cell carcinoma 0 0 0 0 0 9 9
Acute myeloid leukemia 0 0 0 0 0 8 8
Cervical cancer 0 0 0 0 0 8 8
Familial cancer of breast 0 0 0 0 0 8 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Cholangiocarcinoma 0 0 0 0 0 4 4
Familial pancreatic carcinoma 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 4 4
Thymoma 0 0 0 0 0 4 4
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 2 2
Ovarian cancer 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Abnormality of the nervous system 0 1 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Vascular dementia 0 0 1 0 0 0 1
primray hypomagnesemia with secondary hypocalcemia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 284 87 297 1980 135 0 2783
Natera, Inc. 30 115 253 62 58 0 518
GeneDx 12 2 111 153 179 0 457
Ambry Genetics 2 0 346 51 0 0 399
Illumina Laboratory Services, Illumina 0 0 134 18 49 0 201
Breakthrough Genomics, Breakthrough Genomics 0 0 3 53 77 0 133
Fulgent Genetics, Fulgent Genetics 13 57 10 7 2 0 89
CeGaT Center for Human Genetics Tuebingen 2 1 31 39 12 0 85
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 78 78
Athena Diagnostics 2 0 29 9 29 0 69
Mayo Clinic Laboratories, Mayo Clinic 0 1 21 14 33 0 69
PreventionGenetics, part of Exact Sciences 1 2 3 33 7 0 46
Genome-Nilou Lab 0 0 3 2 33 0 38
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 20 14 0 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 4 21 4 1 0 34
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 18 6 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 18 4 0 23
Revvity Omics, Revvity 5 11 7 0 0 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 13 4 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 4 8 0 16
Neuberg Centre For Genomic Medicine, NCGM 2 8 2 0 0 0 12
OMIM 9 0 0 0 0 0 9
Baylor Genetics 1 1 5 0 0 0 7
3billion 3 0 1 1 0 0 5
Counsyl 0 0 3 2 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 5
Variantyx, Inc. 1 4 0 0 0 0 5
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences 4 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 1 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 1 1 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Myriad Genetics, Inc. 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Functional Genomic Platform, Centre National pour la Recherche Scientifique et Technique 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 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 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
MK Azim Lab, Mohammad Ali Jinnah University 1 0 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1

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