ClinVar Miner

Variants studied for Amyotrophic lateral sclerosis type 10

Coded as:
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
17 12 57 9 11 16 102

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TARDBP 14 11 51 9 10 15 91
MASP2, TARDBP 1 0 1 0 1 1 3
ERBB4 0 0 2 0 0 0 2
ANG, EGILA, RNASE4 0 0 1 0 0 0 1
GRN 1 0 0 0 0 0 1
LOC124629354, PRPH, TROAP 0 0 1 0 0 0 1
OPTN 0 1 0 0 0 0 1
SOD1 1 0 0 0 0 0 1
TUBA4A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 47 9 9 0 65
GeneReviews 0 0 0 0 0 16 16
OMIM 12 0 0 0 0 0 12
Human Genetics Bochum, Ruhr University Bochum 3 3 6 0 0 0 12
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 6 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 2
Neurogenetics, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Department of Neurology-Cell Therapy Center, Hanyang University 1 0 0 0 0 0 1

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