ClinVar Miner

Variants in gene HEXA

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Gene type:
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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 other total
92 73 97 29 14 2 253

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Tay-Sachs disease 77 68 85 27 7 2 231
not provided 17 5 14 1 8 2 43
not specified 0 0 4 7 11 0 17
Tay-Sachs disease, B1 variant 5 0 0 0 0 0 5
Inborn genetic diseases 1 2 1 0 0 0 4
Gm2-gangliosidosis, late onset 3 0 0 0 0 0 3
Gm2-gangliosidosis, chronic 2 0 0 0 0 0 2
Gm2-gangliosidosis, juvenile 2 0 0 0 0 0 2
Gm2-gangliosidosis, subacute 2 0 0 0 0 0 2
Beta-hexosaminidase a, pseudodeficiency of 1 0 0 0 0 0 1
Gm2-gangliosidosis, adult 1 0 0 0 0 0 1
Gm2-gangliosidosis, adult-onset 1 0 0 0 0 0 1
Gm2-gangliosidosis, variant b1 1 0 0 0 0 0 1
HEXA, Czechoslovakian allele 1 0 0 0 0 0 1
Hexa, dn allele 1 0 0 0 0 0 1
Tay-sachs disease, juvenile 1 0 0 0 0 0 1
Tay-sachs disease, juvenile/adult 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Counsyl 8 56 63 23 0 0 150
OMIM 56 0 0 0 0 0 56
Integrated Genetics/Laboratory Corporation of America 21 5 6 2 2 0 36
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 26 7 0 0 0 0 33
Illumina Clinical Services Laboratory,Illumina 1 1 22 3 4 0 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 0 6 0 9 2 25
GeneDx 16 3 1 0 1 0 21
Invitae 10 2 3 1 3 1 20
PreventionGenetics 0 0 0 2 9 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 0 5 0 8
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 1 5 0 7
Fulgent Genetics 5 0 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 0 0 3 0 0 4
Ambry Genetics 1 2 1 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 1 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 0 1 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 3
Sema4,Sema4 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 2 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 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 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 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 1

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