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:

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 other not provided total
108 221 578 152 135 2 20 1134

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
VPS13A 63 202 419 97 106 0 3 828
FTL 19 6 96 33 9 0 7 157
XK 10 1 13 0 0 0 4 27
HTT 0 1 6 2 1 2 0 12
HTT, LOC109461479, LOC129929027 1 4 2 2 1 0 3 12
ATXN2 1 0 4 3 2 0 1 11
LOC108663996, TBP 3 0 3 1 3 0 0 10
ATN1, LOC109461484 2 0 3 3 2 0 0 9
ATXN1, LOC108663993 1 0 4 2 2 0 0 9
ATXN2, LOC130008791 1 3 2 2 1 0 0 8
FTL, LOC130064892 1 0 3 3 1 0 0 8
​intergenic 1 0 2 3 0 0 0 6
ATXN3, LOC108663987 2 0 2 0 2 0 0 6
LOC121331331, VPS13A 0 0 4 0 2 0 0 6
FTL, LOC130064891 0 0 5 0 0 0 0 5
ATN1 1 1 2 0 0 0 0 4
ATXN1 0 0 3 1 1 0 0 4
ATXN2, LOC130008792 0 0 1 0 2 0 0 3
ATXN3 0 1 1 0 0 0 1 3
ATXN2, LOC130008791, LOC130008792 1 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 1
FTL, GYS1 0 0 1 0 0 0 0 1
GNA14, VPS13A 1 0 0 0 0 0 0 1
NOX1 0 0 1 0 0 0 0 1
PSEN2 0 1 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 1
TCIRG1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Natera, Inc. 30 115 253 62 58 0 0 518
Illumina Laboratory Services, Illumina 0 0 147 20 59 0 0 226
Labcorp Genetics (formerly Invitae), Labcorp 13 4 96 34 5 0 0 152
Fulgent Genetics, Fulgent Genetics 13 59 15 12 2 0 0 101
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 25 6 4 0 0 42
Genome-Nilou Lab 0 0 3 2 34 0 0 39
Revvity Omics, Revvity 5 11 21 0 0 0 0 37
OMIM 30 0 0 0 0 0 0 30
GeneReviews 4 0 0 0 3 0 17 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 15 2 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 4 8 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 2 9 2 0 0 0 0 13
3billion 3 4 2 1 0 0 0 10
Baylor Genetics 2 1 7 0 0 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 3 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 8 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 4 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 1 2 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 2 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 4 0 0 5
Counsyl 0 0 3 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 0 5
Variantyx, Inc. 1 4 0 0 0 0 0 5
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 2 0 4
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences 4 0 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 0 3
Mendelics 0 1 1 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 1 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 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 1 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 0 2
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 0 2 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 0 2
Molecular Genetics, University Hospital Bordeaux 2 0 0 0 0 0 0 2
Myriad Genetics, Inc. 1 1 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 0 2
Blood Transfusion Service Zurich, Swiss Red Cross 1 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 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 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 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 1 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 1

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