ClinVar Miner

Variants studied for KIF1A related neurological disorder

Included ClinVar conditions (8):
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 not provided total
98 93 1000 1329 120 7 2494

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIF1A 96 91 968 1278 114 6 2404
KIF1A, LOC126806583 1 2 30 51 6 1 88
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, 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, TRAF3IP1, TWIST2, UBE2F 1 0 1 0 0 0 2
AGXT, KIF1A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 61 29 783 1316 106 0 2294
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 1 20 3 0 0 24
OMIM 17 0 0 0 0 0 17
CHU Sainte-Justine Research Center, University of Montreal 2 9 0 0 0 0 11
New York Genome Center 0 1 9 0 0 0 10
3billion 3 5 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 0 6 0 0 0 8
Mendelics 1 3 1 2 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 2 3 1 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 5 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 2 0 5
Genetic Services Laboratory, University of Chicago 1 3 0 0 0 0 4
MGZ Medical Genetics Center 2 1 1 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 3
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
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 1 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 2 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 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 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Molecular Medicine, University of Pavia 1 0 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
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1

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