ClinVar Miner

Variants studied for Hyperkalemic periodic paralysis

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
86 30 876 589 139 19 1658

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
GH-LCR, SCN4A 57 20 579 359 84 12 1061
SCN4A 28 10 294 230 55 7 593
CD79B, SCN4A 0 0 1 0 0 0 1
CEP95, DDX5, ERN1, ICAM2, LRRC37A3, MILR1, PECAM1, POLG2, PRR29, SCN4A, SMURF2, TEX2 0 0 1 0 0 0 1
CLCN1 0 0 1 0 0 0 1
CLCN1, LOC123956257 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 82 22 808 567 80 0 1559
Illumina Laboratory Services, Illumina 0 0 72 31 101 0 204
GeneReviews 1 0 0 0 0 19 20
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 5 2 5 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 5 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 2 0 0 0 7
MGZ Medical Genetics Center 2 1 1 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
OMIM 2 0 0 0 0 0 2
3billion 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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