ClinVar Miner

Variants in gene HEXA

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Minimum submission review status: Collection method:
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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 other not provided total
226 171 410 501 41 2 6 1194

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Tay-Sachs disease 214 160 365 483 25 2 2 1127
not provided 36 20 48 35 33 2 4 158
Inborn genetic diseases 10 3 33 17 0 0 0 63
not specified 2 0 36 13 12 0 0 59
HEXA-related disorder 7 2 0 9 0 0 0 18
Tay-Sachs disease, B1 variant 5 0 0 0 0 0 0 5
Gm2-gangliosidosis, late onset 3 0 0 0 0 0 0 3
Tay-Sachs disease, variant AB; Tay-Sachs disease 3 0 0 0 0 0 0 3
Gm2-gangliosidosis, chronic 2 0 0 0 0 0 0 2
Gm2-gangliosidosis, juvenile 2 0 0 0 0 0 0 2
Gm2-gangliosidosis, subacute 2 0 0 0 0 0 0 2
Intellectual disability 0 0 1 1 0 0 0 2
Beta-hexosaminidase a, pseudodeficiency of 1 0 0 0 0 0 0 1
GM2-ganglioside accumulation 1 0 0 0 0 0 0 1
GM2-gangliosidosis, adult-onset 1 0 0 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 0 1
Gm2-gangliosidosis, adult 1 0 0 0 0 0 0 1
Gm2-gangliosidosis, variant b1 1 0 0 0 0 0 0 1
Hexa, dn allele 1 0 0 0 0 0 0 1
Leukodystrophy; Seizure; Hearing impairment 0 1 0 0 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 0 0 1
Tay-sachs disease, juvenile 1 0 0 0 0 0 0 1
Tay-sachs disease, juvenile/adult 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 180 33 292 461 14 2 0 982
Counsyl 4 54 60 23 0 0 0 141
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 46 25 34 9 5 0 0 119
Natera, Inc. 35 10 48 9 12 0 0 114
GeneDx 27 9 17 13 28 0 0 94
Ambry Genetics 10 3 33 17 0 0 0 63
OMIM 54 0 0 0 0 0 0 54
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 29 9 2 0 0 0 0 40
Myriad Genetics, Inc. 8 30 2 0 0 0 0 40
Illumina Laboratory Services, Illumina 3 1 24 3 4 0 0 35
Breakthrough Genomics, Breakthrough Genomics 1 0 2 12 20 0 0 35
CeGaT Center for Human Genetics Tuebingen 8 6 9 11 0 0 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 2 10 6 7 0 0 29
PreventionGenetics, part of Exact Sciences 7 2 0 11 9 0 0 29
Eurofins Ntd Llc (ga) 8 0 6 0 9 2 0 25
Fulgent Genetics, Fulgent Genetics 9 5 8 1 0 0 0 23
Mayo Clinic Laboratories, Mayo Clinic 9 1 5 1 5 0 0 21
Revvity Omics, Revvity 10 5 3 0 0 0 0 18
Quest Diagnostics Nichols Institute San Juan Capistrano 5 1 6 2 4 0 0 18
Genome-Nilou Lab 0 0 3 3 8 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 4 1 6 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 0 0 0 0 0 0 9
Baylor Genetics 7 1 0 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 3 0 1 0 0 7
Genetic Services Laboratory, University of Chicago 2 1 0 3 0 0 0 6
MGZ Medical Genetics Center 4 0 2 0 0 0 0 6
Mendelics 3 2 0 1 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 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 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 2 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 1 2 0 0 5
3billion 5 0 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 1 1 0 4
Clinical Genetics, Academic Medical Center 0 0 0 0 4 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 0 4
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 4 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 3 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 1 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 0 3
Sema4, Sema4 1 1 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 2 0 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 1 1 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 1 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 2
DASA 2 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 0 1

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