ClinVar Miner

Variants studied for Huntington disease and related disorders

Included ClinVar conditions (16):
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 risk factor other total
101 13 303 112 122 1 2 611

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
VPS13A 18 2 193 54 71 0 0 310
PANK2 37 10 67 20 11 0 0 133
FTL 12 0 25 3 8 0 0 47
PRNP 7 0 6 6 10 0 0 28
ATXN2 6 0 2 6 5 1 0 20
FTL, GYS1 0 0 0 16 2 0 0 18
XK 8 0 0 0 0 0 0 8
ATXN1, LOC108663993 1 0 0 2 3 0 0 6
LOC121331331, VPS13A 0 0 4 0 2 0 0 6
HTT, LOC109461479 3 0 0 1 1 0 0 5
ATN1, LOC109461484 2 0 0 0 2 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 4
HTT 0 0 1 0 1 0 2 4
LOC108663996, TBP 1 0 1 1 1 0 0 4
JPH3, LOC109029536 1 0 0 1 2 0 0 3
​intergenic 2 0 0 0 0 0 0 2
ATXN1 0 0 1 1 0 0 0 2
JPH3 0 0 2 0 0 0 0 2
ATN1 1 0 0 0 0 0 0 1
ATXN3 0 0 0 0 1 0 0 1
FTL, GYS1, LOC119369037 0 0 0 1 0 0 0 1
PSEN2 0 1 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Illumina Clinical Services Laboratory,Illumina 0 0 192 49 68 0 0 309
Invitae 32 4 55 17 15 0 0 123
Natera, Inc. 2 0 44 24 40 0 0 110
OMIM 41 0 0 0 0 1 0 42
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 15 2 0 0 18
Baylor Genetics 6 1 6 0 0 0 0 13
GeneReviews 8 0 0 0 5 0 0 13
Mendelics 1 3 2 1 3 0 0 10
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 6 3 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 1 2 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 6 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 4 0 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 2 0 0 5
Counsyl 0 0 3 2 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 5 0 0 0 0 0 0 5
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 0 2 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 2 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 1 0 0 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 0 2
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases,University of Belgrade, School of Medicine 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 1
Functional Genomic Platform,Centre National pour la Recherche Scientifique et Technique 1 0 0 0 0 0 0 1
Human Genetics Group at Institute of Prion Diseases London,University College London 0 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 1

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