ClinVar Miner

Variants in gene CACNA1S

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 drug response risk factor not provided total
30 23 485 372 184 2 4 1 972

Condition and significance breakdown #

Total conditions: 21
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 23 14 349 204 61 0 0 0 651
not provided 4 8 101 116 79 0 0 1 304
Hypokalemic periodic paralysis 1 10 1 71 32 107 0 0 0 219
not specified 0 0 16 103 60 0 0 0 164
Hypokalemic periodic paralysis 0 0 12 11 2 0 0 0 25
Malignant hyperthermia susceptibility 0 0 11 9 2 0 0 0 22
Malignant hyperthermia, susceptibility to, 5 0 0 8 0 0 0 1 0 9
Malignant hyperthermia 0 0 5 1 1 0 0 0 7
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 0 0 4 0 0 0 0 0 4
Thyrotoxic periodic paralysis, susceptibility to, 1 0 0 1 0 0 0 3 0 4
desflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
enflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
halothane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
isoflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
methoxyflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
sevoflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
succinylcholine response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
Hereditary liability to pressure palsies 0 0 0 1 0 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 0 1 0 0 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 0 0 1
Skeletal muscle atrophy; skeletal contractures 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 23 14 349 244 59 0 0 0 689
GeneDx 2 4 40 104 93 0 0 0 243
Illumina Clinical Services Laboratory,Illumina 0 0 69 41 109 0 0 0 219
PreventionGenetics, PreventionGenetics 0 0 0 26 46 0 0 0 72
CeGaT Praxis fuer Humangenetik Tuebingen 1 4 36 25 0 0 0 0 66
Athena Diagnostics Inc 2 0 11 3 47 0 0 0 63
Gharavi Laboratory,Columbia University 0 0 23 0 0 0 0 0 23
CSER _CC_NCGL, University of Washington 0 0 8 2 0 0 0 0 10
OMIM 5 0 0 0 0 0 4 0 9
Integrated Genetics/Laboratory Corporation of America 0 0 3 0 5 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 7 0 0 0 0 0 7
GeneReviews 7 0 0 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 0 5 1 0 0 0 0 7
Baylor Genetics 3 0 2 0 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 0 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 1 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 1 0 0 0 2
Mendelics 0 1 0 1 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 0 0 2
PharmGKB 0 0 0 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.