ClinVar Miner

Variants studied for Huntington disease and related disorders

Included ClinVar conditions (18):
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
82 9 143 93 34 1 2 352

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
VPS13A 13 0 84 45 6 0 0 138
PANK2 30 6 28 7 3 0 0 74
NKX2-1, SFTA3 7 2 15 8 2 0 0 34
FTL 6 0 10 4 0 0 0 19
FTL, GYS1 0 0 0 17 2 0 0 19
ATXN2 1 0 1 6 4 1 0 13
PRNP 4 0 2 2 4 0 0 12
XK 8 0 0 0 0 0 0 8
ATN1, LOC109461484 2 0 0 0 2 0 0 4
ATXN1, LOC108663993 1 0 0 0 3 0 0 4
HTT, LOC109461479 3 0 0 0 1 0 0 4
ATXN3, LOC108663987 2 0 0 0 1 0 0 3
HTT 0 0 0 0 1 0 2 3
JPH3, LOC109029536 1 0 0 1 2 0 0 3
LOC108663996, TBP 0 0 1 1 1 0 0 3
NKX2-1 0 0 1 1 1 0 0 3
​intergenic 1 0 0 0 0 0 0 1
ATN1 1 0 0 0 0 0 0 1
ATXN1 0 0 0 1 0 0 0 1
ATXN3 0 0 0 0 1 0 0 1
JPH3 0 0 1 0 0 0 0 1
MBIP, MIPOL1, NKX2-1, NKX2-8, PAX9, PTCSC3, SFTA3, SLC25A21 1 0 0 0 0 0 0 1
PSEN2 0 1 0 0 0 0 0 1
TBP 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Illumina Clinical Services Laboratory,Illumina 0 0 111 65 13 0 0 189
OMIM 47 0 0 0 0 1 0 48
Invitae 18 2 22 2 2 0 0 46
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 15 2 0 0 18
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 6 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 5 1 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 0 0 2
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
Baylor Genetics 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 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
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 0 1

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