ClinVar Miner

Variants studied for Huntington disease and related disorders

Included ClinVar conditions (19):
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
187 163 561 478 158 1 2 24 1444

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
VPS13A 44 88 231 95 106 0 0 1 510
PANK2 82 52 119 196 13 0 0 5 430
LOC130065345, PANK2 15 6 66 116 9 0 0 0 195
FTL 17 6 86 31 8 0 0 7 142
XK 9 0 8 0 0 0 0 4 20
FTL, GYS1 0 0 1 13 2 0 0 0 16
HTT, LOC109461479, LOC129929027 1 4 2 2 1 0 0 3 12
ATXN2 0 0 4 3 2 1 0 1 11
HTT 1 0 5 2 1 0 2 0 11
LOC108663996, TBP 3 0 3 1 3 0 0 0 10
ATN1, LOC109461484 2 0 3 3 2 0 0 0 9
ATXN1, LOC108663993 1 0 3 2 2 0 0 0 8
ATXN2, LOC130008791 1 3 1 2 1 0 0 0 7
FTL, LOC130064892 0 0 3 3 1 0 0 0 7
​intergenic 1 0 2 3 0 0 0 0 6
ATXN3, LOC108663987 2 0 2 0 2 0 0 0 6
LOC121331331, VPS13A 0 0 4 0 2 0 0 0 6
FTL, LOC130064891 0 0 5 0 0 0 0 0 5
ATN1 1 1 2 0 0 0 0 0 4
ATXN1 0 0 3 1 1 0 0 0 4
JPH3 0 0 3 1 0 0 0 0 4
ATXN2, LOC130008792 0 0 1 0 2 0 0 0 3
ATXN3 0 1 1 0 0 0 0 1 3
FTL, GYS1, LOC130064893 0 0 0 3 0 0 0 0 3
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
CFAP47, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, LANCL3, LOC101928627, LOC121627964, LOC126863237, LOC129391297, LOC130068090, LOC130068091, LOC130068092, LOC130068093, LOC130068094, LOC130068095, MAGEB16, MIR3915, MIR548F5, PRRG1, TMEM47, XK 1 0 0 0 0 0 0 0 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
MIR103A2, PANK2 1 0 0 0 0 0 0 0 1
NOX1 0 0 1 0 0 0 0 0 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: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 90 21 232 336 25 0 0 0 704
Illumina Laboratory Services, Illumina 0 0 191 49 68 0 0 0 308
Natera, Inc. 11 5 55 57 58 0 0 0 186
Fulgent Genetics, Fulgent Genetics 19 77 17 14 2 0 0 0 129
OMIM 45 0 0 0 0 1 0 1 47
Department of Pathology and Laboratory Medicine, Sinai Health System 1 7 26 6 4 0 0 0 44
Genome-Nilou Lab 0 0 3 2 35 0 0 0 40
GeneReviews 4 0 0 0 3 0 0 22 29
Neuberg Centre For Genomic Medicine, NCGM 3 14 10 0 0 0 0 0 27
Revvity Omics, Revvity 3 8 15 0 0 0 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 10 0 0 0 0 0 0 26
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 15 2 0 0 0 18
Baylor Genetics 3 3 7 0 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 3 6 0 0 0 12
3billion 4 5 2 1 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 3 1 4 2 0 0 0 0 10
Mendelics 2 4 1 0 2 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 6 0 0 0 0 0 8
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 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
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 2 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 2 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 1 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 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
Blood Transfusion Service Zurich, Swiss Red Cross 1 0 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
Centre for Genetics and Rare Diseases, Riga East Clinical University Hospital 0 0 1 0 0 0 0 0 1

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