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 not provided total
170 72 515 449 154 1 2 24 1283

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
VPS13A 37 29 216 92 105 0 0 1 435
PANK2 77 32 119 187 12 0 0 5 406
LOC130065345, PANK2 14 3 66 110 9 0 0 0 186
FTL 17 4 79 24 8 0 0 7 128
XK 9 0 8 0 0 0 0 4 20
FTL, GYS1 0 0 1 13 2 0 0 0 16
ATXN2 0 0 3 3 2 1 0 1 10
HTT 0 0 3 2 1 0 2 0 8
HTT, LOC109461479, LOC129929027 1 1 1 2 1 0 0 3 8
ATN1, LOC109461484 2 0 0 3 2 0 0 0 7
ATXN1, LOC108663993 1 0 1 2 2 0 0 0 6
LOC121331331, VPS13A 0 0 4 0 2 0 0 0 6
LOC108663996, TBP 2 0 1 1 1 0 0 0 5
ATXN1 0 0 2 1 1 0 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 0 4
FTL, LOC130064891 0 0 4 0 0 0 0 0 4
FTL, LOC130064892 0 0 1 2 1 0 0 0 4
ATN1 1 1 1 0 0 0 0 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 0 3
FTL, GYS1, LOC130064893 0 0 0 3 0 0 0 0 3
JPH3 0 0 2 1 0 0 0 0 3
ATXN2, LOC130008791 0 0 0 2 1 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 1
ADAM33, ADISSP, ADRA1D, AP5S1, ATRN, AVP, BMP2, C20orf141, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, DDRGK1, DNAAF9, EBF4, FASTKD5, FERMT1, GFRA4, GNRH2, GPCPD1, HSPA12B, IDH3B, ITPA, LRRN4, LZTS3, MAVS, MCM8, MIR103A2, MIR1292, MRPS26, NOP56, OXT, PANK2, PCED1A, PCNA, PDYN, PRND, PRNP, PROKR2, PTPRA, RASSF2, RNF24, SHLD1, SIGLEC1, SLC23A2, SLC4A11, SMOX, SNRPB, SPEF1, STK35, TGM3, TGM6, TMC2, TMEM230, TMEM239, TRMT6, UBOX5, VPS16, ZNF343 0 0 1 0 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 1 0 0 0 0 0 0 1 1
ATXN3 0 0 0 0 0 0 0 1 1
FTL, GYS1, LOC119369037 0 0 0 1 0 0 0 0 1
GNA14, VPS13A 1 0 0 0 0 0 0 0 1
JPH3, LOC109029536 1 0 0 0 0 0 0 0 1
LOC125384566, LOC130065344, LOC130065345, LOC130065346, LOC130065347, PANK2 1 0 0 0 0 0 0 0 1
MAVS, MIR103A2, PANK2 1 0 0 0 0 0 0 0 1
MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 0 1 1
PSEN2 0 1 0 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 0 1
TCIRG1 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 84 19 223 313 24 0 0 0 663
Illumina Laboratory Services, Illumina 0 0 192 49 68 0 0 0 309
Natera, Inc. 11 5 55 57 58 0 0 0 186
OMIM 46 0 0 0 0 1 0 0 47
Fulgent Genetics, Fulgent Genetics 6 7 10 15 2 0 0 0 40
Genome-Nilou Lab 0 0 3 2 35 0 0 0 40
GeneReviews 4 0 0 0 3 0 0 22 29
Revvity Omics, Revvity 3 8 15 0 0 0 0 0 26
Neuberg Centre For Genomic Medicine, NCGM 3 7 9 0 0 0 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 15 2 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 5 0 0 0 0 0 0 15
Baylor Genetics 2 3 7 0 0 0 0 0 12
Mendelics 2 4 1 0 2 0 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 3 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 1 2 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 2 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 4 0 0 0 0 0 6
3billion 3 2 1 0 0 0 0 0 6
Counsyl 0 0 3 2 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 4 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 4 0 0 0 0 0 5
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 0 2 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 1 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 0 0 4
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences 4 0 0 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 1 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 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 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 0 0 2
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 1 1 0 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 0 2
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 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 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 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 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 0 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 0 1
Nutriplexity 0 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Pangenia Genomics, Pangenia Inc. 0 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1

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