ClinVar Miner

Variants in gene PRRT2

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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 not provided total
64 21 162 81 20 1 313

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Paroxysmal kinesigenic dyskinesia 33 5 116 34 11 0 199
not provided 21 9 41 19 5 0 91
not specified 0 0 7 37 13 0 53
Episodic kinesigenic dyskinesia 1 12 2 10 4 2 0 28
Infantile convulsions and choreoathetosis 9 0 7 0 0 0 16
Seizures, benign familial infantile, 2 8 4 2 0 0 0 13
History of neurodevelopmental disorder 1 0 1 7 2 0 11
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 1 1 2 0 0 1 5
Seizures 1 1 1 0 0 0 3
Complex febrile seizures 0 0 1 0 0 0 1
Global developmental delay; Hyperactivity; Seizures; Intellectual disability, profound 0 0 1 0 0 0 1
PRRT2 insufficiency 1 0 0 0 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 1 0 0 0 0 0 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 34 6 126 44 12 0 222
GeneDx 13 8 21 39 11 0 92
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 13 4 6 0 25
CeGaT Praxis fuer Humangenetik Tuebingen 11 1 12 1 0 0 25
OMIM 16 0 0 0 0 0 16
Athena Diagnostics Inc 2 0 3 1 6 0 12
Ambry Genetics 1 0 1 7 2 0 11
Genetic Services Laboratory, University of Chicago 1 0 2 2 1 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 3 0 0 0 6
Mendelics 1 1 0 1 2 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 4 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 2 0 0 0 0 5
Baylor Genetics 3 0 1 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 2 1 0 4
GeneReviews 3 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1

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