ClinVar Miner

Variants in gene PNKP

Minimum submission review status: Collection method:
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Gene type:
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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
44 37 333 209 54 1 583

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy 12 26 4 217 82 23 0 352
not provided 15 23 110 52 14 0 208
not specified 0 1 20 101 39 0 148
Early infantile epileptic encephalopathy 10 8 8 62 13 10 1 93
History of neurodevelopmental disorder 2 1 20 22 8 0 53
Ataxia-oculomotor apraxia 4 8 1 5 0 0 0 13
Early infantile epileptic encephalopathy 10; Ataxia-oculomotor apraxia 4 0 0 9 0 0 0 9
Inborn genetic diseases 1 1 2 0 0 0 4
Charcot-Marie-Tooth disease type 2B2 2 1 0 0 0 0 3
Seizures 0 0 2 0 0 0 2
Ataxia-oculomotor apraxia type 1 0 1 0 0 0 0 1
Epileptic encephalopathy 0 0 0 1 0 0 1
Global developmental delay; Cerebellar atrophy; Primary microcephaly 0 1 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 4 217 101 24 0 372
GeneDx 12 17 69 97 46 0 241
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 1 46 5 11 0 65
Illumina Clinical Services Laboratory,Illumina 0 0 41 10 8 0 59
Genetic Services Laboratory, University of Chicago 4 3 32 12 7 0 58
Ambry Genetics 3 2 22 22 8 0 57
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 10 8 0 0 19
Athena Diagnostics Inc 0 0 3 5 5 0 13
OMIM 9 0 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 0 0 9 0 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 4 4 0 9
Baylor Genetics 2 1 4 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 3 3 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 3 0 0 6
Service de Génétique Moléculaire,Hôpital Robert Debré 1 4 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 3 0 0 0 5
Mendelics 2 1 0 0 1 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 1 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 1 2 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1

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