ClinVar Miner

Variants studied for KIF1A related neurological disorder

Included ClinVar conditions (15):
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 not provided total
112 122 1167 1551 125 8 2909

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIF1A 110 117 1130 1485 119 6 2799
KIF1A, LOC126806583 1 5 33 66 6 2 106
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, IFT54, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TWIST2, UBE2F 1 0 1 0 0 0 2
AGXT, KIF1A 0 0 2 0 0 0 2
POLR1A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 70 38 927 1537 110 0 2681
Illumina Laboratory Services, Illumina 0 0 163 10 25 0 198
SIB Swiss Institute of Bioinformatics 3 26 8 0 0 0 37
Baylor Genetics 5 3 26 0 0 0 34
Paris Brain Institute, Inserm - ICM 28 0 0 0 0 0 28
Fulgent Genetics, Fulgent Genetics 0 2 20 3 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 3 7 4 1 0 25
3billion 8 8 4 0 0 0 20
OMIM 17 0 0 0 0 0 17
Neuberg Centre For Genomic Medicine, NCGM 2 0 11 0 0 0 13
New York Genome Center 0 1 11 0 0 0 12
CHU Sainte-Justine Research Center, University of Montreal 2 9 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 6 1 1 0 9
Mendelics 1 3 2 2 0 0 8
Solve-RD Consortium 0 8 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 1 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Institute of Human Genetics Munich, TUM University Hospital 4 2 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 3 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 2 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 1 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 3 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
MGZ Medical Genetics Center 2 1 1 0 0 0 4
MVZ Martinsried, Medicover Genetics 0 1 3 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 1 0 0 0 0 3
Center of Human Genetics, Hôpital Erasme 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 1 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 1
Next Generation Genetic Polyclinic 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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