ClinVar Miner

Variants in gene ALS2

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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 total
80 52 458 368 113 983

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Infantile-onset ascending hereditary spastic paralysis 60 26 302 295 47 723
not provided 8 11 81 70 76 239
Amyotrophic lateral sclerosis type 2, juvenile 12 10 80 9 21 131
ALS2-Related Disorders 2 0 81 10 17 110
Inborn genetic diseases 2 0 37 4 0 43
Hereditary spastic paraplegia 0 0 32 6 3 41
not specified 0 0 8 10 23 39
Juvenile primary lateral sclerosis 7 1 2 0 10 20
Amyotrophic lateral sclerosis type 2, juvenile; Juvenile primary lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis 2 5 2 3 0 12
ALS2-related condition 0 0 1 9 0 10
Amyotrophic Lateral Sclerosis, Recessive 0 0 3 1 0 4
Amyotrophic lateral sclerosis 0 3 1 0 0 4
Tip-toe gait 0 2 1 0 0 3
Abnormal central motor function 0 2 0 0 0 2
Peripheral axonal neuropathy 0 2 0 0 0 2
Global developmental delay; Spasticity; Hypokinesia; Limb dystonia; Abnormal cerebral white matter morphology; Hypertyrosinemia 0 1 0 0 0 1
Juvenile amyotrophic lateral sclerosis 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 13 300 299 42 682
GeneDx 3 5 29 53 72 162
Illumina Laboratory Services, Illumina 0 0 81 10 17 108
Athena Diagnostics Inc 0 0 31 3 21 55
Ambry Genetics 2 0 37 4 0 43
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 30 6 3 39
CeGaT Center for Human Genetics Tuebingen 2 2 15 16 1 36
PreventionGenetics, part of Exact Sciences 0 0 1 13 12 26
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 10 8 21
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 2 8 9 20
GeneReviews 17 0 0 0 0 17
OMIM 16 0 0 0 0 16
Medical Molecular Genetics Department, National Research Center 9 2 0 1 1 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 7 10
Genome-Nilou Lab 0 0 0 0 10 10
Fulgent Genetics, Fulgent Genetics 2 1 2 3 0 8
Paris Brain Institute, Inserm - ICM 8 0 0 0 0 8
Revvity Omics, Revvity 1 1 5 0 0 7
Clinical Genetics, Academic Medical Center 0 0 0 0 7 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 7 7
Cirak Lab, University Hospital Cologne 2 5 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 2 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 2 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 2 0 0 0 4
UM ALS/MND Lab, University Of Malta 0 3 1 0 0 4
Baylor Genetics 0 1 2 0 0 3
Mendelics 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 2 1 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 2 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 0 0 2 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Medical Genetics, Christian Medical College 2 0 0 0 0 2
3billion 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 0 1 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
Pars Genome Lab 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Genetic Medical Diagnostic Laboratory CellGenetics, GMDL CellGenetics 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 1

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