ClinVar Miner

Variants studied for Huntington disease-like syndrome

Included ClinVar conditions (14):
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 total
74 8 224 74 86 1 449

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
VPS13A 15 0 157 30 51 0 245
PANK2 32 7 48 16 11 0 106
FTL 9 0 16 2 8 0 34
FTL, GYS1 0 0 0 17 2 0 19
ATXN2 1 0 1 6 4 1 13
XK 8 0 0 0 0 0 8
ATN1, LOC109461484 2 0 0 0 2 0 4
ATXN1, LOC108663993 1 0 0 0 3 0 4
ATXN3, LOC108663987 2 0 0 0 1 0 3
JPH3, LOC109029536 1 0 0 1 2 0 3
LOC108663996, TBP 0 0 1 1 1 0 3
​intergenic 1 0 0 0 0 0 1
ATN1 1 0 0 0 0 0 1
ATXN1 0 0 0 1 0 0 1
ATXN3 0 0 0 0 1 0 1
JPH3 0 0 1 0 0 0 1
PSEN2 0 1 0 0 0 0 1
TBP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 192 49 67 0 308
Invitae 20 3 21 7 6 0 57
OMIM 39 0 0 0 0 1 40
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 15 2 0 18
GeneReviews 5 0 0 0 4 0 9
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 6 3 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 6 0 7
Mendelics 1 3 1 0 1 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 4 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 2 0 5
Counsyl 0 0 3 2 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 5 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 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 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Functional Genomic Platform,Centre National pour la Recherche Scientifique et Technique 1 0 0 0 0 0 1
Human Genetics Group at Institute of Prion Diseases London,University College London 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1

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