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
84 63 517 511 75 3 1111

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 12 66 16 351 410 36 0 879
not provided 20 36 171 99 29 2 336
not specified 0 1 21 91 41 0 140
Inborn genetic diseases 7 4 75 37 10 0 133
Microcephaly, seizures, and developmental delay 11 10 66 13 11 1 103
Ataxia - oculomotor apraxia type 4 8 3 6 0 1 0 17
Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 0 2 5 4 1 0 12
Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 0 1 10 0 0 0 11
Charcot-Marie-Tooth disease type 2B2 2 2 0 0 1 0 5
Abnormality of the nervous system 2 1 0 0 0 0 3
Abnormal cerebral morphology 1 1 0 0 0 0 2
PNKP-related condition 1 0 1 0 0 0 2
Seizure 0 0 2 0 0 0 2
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 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
PNKP-related disorders 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: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 66 16 351 414 36 0 883
GeneDx 15 23 116 136 57 0 346
Ambry Genetics 7 4 75 37 10 0 133
Eurofins Ntd Llc (ga) 2 1 46 5 11 0 65
Genetic Services Laboratory, University of Chicago 4 4 32 14 9 0 63
Illumina Laboratory Services, Illumina 0 0 41 10 8 0 59
CeGaT Center for Human Genetics Tuebingen 4 2 17 30 5 0 58
Revvity Omics, Revvity Omics 3 5 16 2 0 0 26
Fulgent Genetics, Fulgent Genetics 0 1 14 3 1 0 19
Mayo Clinic Laboratories, Mayo Clinic 0 2 15 0 0 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 7 6 0 15
Athena Diagnostics Inc 0 0 3 5 5 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 8 3 0 12
OMIM 9 0 0 0 0 0 9
Baylor Genetics 2 1 4 0 0 0 7
New York Genome Center 0 0 7 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 2 3 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 4 0 0 6
Preventiongenetics, part of Exact Sciences 1 0 1 1 2 0 5
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 1 0 0 4
Mendelics 2 1 0 0 1 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 1 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 2 1 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 1 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
DASA 1 1 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 0 0 0 0 0 1

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