ClinVar Miner

Variants studied for gangliosidosis

Included ClinVar conditions (15):
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 affects other not provided total
532 401 863 1355 115 36 2 29 2987

Gene and significance breakdown #

Total genes and gene combinations: 17
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
HEXA 198 154 365 456 25 35 2 1 1088
GLB1 181 137 218 453 30 0 0 25 931
HEXB 132 98 155 372 21 0 0 1 706
GM2A 8 8 96 46 34 0 0 0 187
GLB1, LOC129936434, TMPPE 5 3 16 26 3 0 0 2 51
GFM2, HEXB 1 0 5 2 1 0 0 0 8
GM2A, LOC129995043 0 0 2 0 1 0 0 0 3
HEXB, LOC129994060, LOC129994061, LOC129994062 3 0 0 0 0 0 0 0 3
GLB1, LOC129936434 0 0 2 0 0 0 0 0 2
ADPGK, ARIH1, BBS4, CD276, CELF6, GOLGA6B, GRAMD2A, HCN4, HEXA, INSYN1, LOXL1, MYO9A, NEO1, NPTN, NR2E3, PARP6, PKM, REC114, SENP8, TBC1D21, TMEM202 1 0 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 0 0 0 1
ANKDD1B, ANKRD31, CERT1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2, POC5, POLK 0 0 1 0 0 0 0 0 1
ENC1, HEXB, LOC123497911, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062 1 0 0 0 0 0 0 0 1
GM2A, LOC129995044 1 0 0 0 0 0 0 0 1
GM2A, SLC36A2, SLC36A3 0 0 1 0 0 0 0 0 1
HEXA, LOC130057475 1 1 0 0 0 1 0 0 1
SETX 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 459 115 576 1309 66 0 2 0 2527
Counsyl 16 125 121 27 0 0 0 0 289
Illumina Laboratory Services, Illumina 7 4 136 26 50 0 0 0 223
Natera, Inc. 42 15 73 14 25 0 0 0 169
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 85 52 0 0 0 0 0 0 137
Myriad Genetics, Inc. 9 70 2 0 0 0 0 0 81
OMIM 39 0 0 0 0 36 0 0 75
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 40 20 6 0 0 0 0 0 66
Fulgent Genetics, Fulgent Genetics 30 11 14 2 1 0 0 0 58
Genome-Nilou Lab 1 1 8 4 22 0 0 0 36
Baylor Genetics 20 2 7 0 0 0 0 0 29
Revvity Omics, Revvity 15 8 6 0 0 0 0 0 29
Neuberg Centre For Genomic Medicine, NCGM 10 5 14 0 0 0 0 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 1 4 0 0 0 0 0 22
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 11 4 3 0 0 0 0 0 18
GenomeConnect - GM1 0 0 0 0 0 0 0 18 18
Mendelics 9 3 1 2 1 0 0 0 16
Pars Genome Lab 0 0 0 3 12 0 0 0 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 10 0 0 0 0 0 13
MGZ Medical Genetics Center 5 2 3 0 0 0 0 0 10
3billion 6 1 2 1 0 0 0 0 10
Centogene AG - the Rare Disease Company 9 0 0 0 0 0 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 3 0 0 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 3 2 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 2 0 0 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 1 0 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 3 1 1 0 0 0 0 7
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 4 3 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 0 0 6 6
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 6 0 0 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 0 0 0 6
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 0 0 6 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 1 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 1 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 0 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 1 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 0 0 4
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 2 0 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 0 0 3
Sema4, Sema4 1 1 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 1 1 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 2
DASA 2 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 1 0 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 1
Biological Sciences, International Islamic University, Islamabad 1 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.