ClinVar Miner

Variants in gene ALS2

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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
46 28 212 83 35 370

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Infantile-onset ascending hereditary spastic paralysis 29 15 101 47 15 206
Amyotrophic lateral sclerosis type 2 9 6 81 9 17 121
ALS2-Related Disorders 2 0 85 11 18 116
not provided 5 6 33 27 7 77
not specified 0 0 7 6 18 30
Juvenile primary lateral sclerosis 7 0 2 0 0 9
Amyotrophic Lateral Sclerosis, Recessive 0 0 5 2 0 7
Amyotrophic lateral sclerosis type 2; Juvenile primary lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis 1 2 2 0 0 5
none provided 0 0 0 0 3 3
Hereditary spastic paraplegia 0 0 2 0 0 2
Inborn genetic diseases 2 0 0 0 0 2
Peripheral axonal neuropathy 0 2 0 0 0 2
Amyotrophic lateral sclerosis 0 0 1 0 0 1
Global developmental delay; Spasticity; Hypokinesia; Limb dystonia; Abnormality of the cerebral white matter; Hypertyrosinemia 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 1
Toe walking 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 7 101 66 16 199
Illumina Clinical Services Laboratory,Illumina 0 0 85 11 18 114
Athena Diagnostics Inc 0 0 16 2 17 35
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 14 2 0 19
GeneReviews 17 0 0 0 0 17
OMIM 16 0 0 0 0 16
PreventionGenetics, PreventionGenetics 0 0 0 4 12 16
GeneDx 2 4 7 0 0 13
Paris Brain Institute,Inserm - ICM 8 0 0 0 0 8
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, Klinikum rechts der Isar 5 0 0 0 0 5
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 2 0 0 0 4
Baylor Genetics 1 0 2 0 0 3
Mendelics 1 2 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 3
Ambry Genetics 2 0 0 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
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 1
Developmental Genetics Unit,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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 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
ALS/MND Lab,University of Malta 0 0 1 0 0 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 1 0 0 1

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