ClinVar Miner

Variants in gene KCNJ5

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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 total
6 4 126 52 46 201

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Romano-Ward syndrome 0 0 59 21 18 98
Familial hyperaldosteronism type 3 5 0 39 2 33 79
Long QT syndrome 1 0 35 14 13 63
Familial hyperaldosteronism 0 0 40 1 4 45
not provided 0 3 11 10 3 26
not specified 0 0 1 11 10 22
Cardiovascular phenotype 0 0 1 1 5 7
Long QT syndrome 13 1 1 2 0 0 3
Aldosterone-producing adrenal adenoma, somatic 2 0 0 0 0 2
Andersen Tawil syndrome 2 0 0 0 0 2
Hypertrophic cardiomyopathy 0 0 1 1 0 2
Cardiovascular 0 0 1 0 0 1
Long QT syndrome; Dilated cardiomyopathy 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 80 21 37 119
Invitae 1 0 34 21 15 71
GeneDx 0 0 10 15 11 36
OMIM 6 0 1 0 0 7
Ambry Genetics 0 0 1 1 5 7
PreventionGenetics,PreventionGenetics 0 0 0 0 6 6
Richard Lifton Laboratory, Yale University School of Medicine 0 3 0 0 0 3
GeneReviews 2 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 0 1 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 1 1 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1

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