Variants studied for Hypokalemic periodic paralysis, type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
15	21	185	167	134	8	485

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CACNA1S	10	21	177	167	134	8	472
CACNA1S, LOC101929305	0	0	6	0	0	0	6
GH-LCR, SCN4A	3	0	1	0	0	0	4
CLCN1, LOC123956257	1	0	0	0	0	0	1
SCN4A	1	0	0	0	0	0	1
SLC25A26	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 28

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	4	14	115	150	86	0	369
Illumina Laboratory Services, Illumina	0	0	57	30	107	0	194
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	8	1	1	0	0	0	10
GeneReviews	0	0	0	0	0	8	8
Institute of Human Genetics, University of Leipzig Medical Center	1	0	5	1	0	0	7
OMIM	5	0	0	0	0	0	5
Baylor Genetics	0	1	4	0	0	0	5
MGZ Medical Genetics Center	0	2	2	0	0	0	4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	2	1	0	0	0	4
Mendelics	0	1	1	1	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	3	0	0	0	3
Johns Hopkins Genomics, Johns Hopkins University	0	1	2	0	0	0	3
Centogene AG - the Rare Disease Company	0	0	2	0	0	0	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	0	2	0	0	0	2
DASA	2	0	0	0	0	0	2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	1	0	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1
Laboratory of Molecular Genetics, Research Center of Neurology	1	0	0	0	0	0	1

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