ClinVar Miner

Variants studied for diffuse palmoplantar keratoderma

Included ClinVar conditions (59):
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 pathogenic, low penetrance not provided total
348 123 1064 711 247 1 4 2380

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
WNT10A 89 27 96 279 14 1 2 461
DSP 3 9 318 66 37 0 0 425
CTSC 69 17 132 158 21 0 0 379
GJB2 61 34 39 16 26 0 1 169
SNAP29 5 8 100 13 33 0 0 152
COG6 5 1 48 52 20 0 0 123
GJB6 4 2 66 32 16 0 0 107
KRT9 13 3 57 17 5 0 0 92
TRPM4 2 0 75 7 4 0 0 88
GJB3 5 0 37 13 28 0 0 81
CTSC, LOC130006572 7 1 22 30 1 0 0 57
KRT1 3 1 14 7 20 0 0 45
SLURP1 11 2 13 2 1 0 0 27
DSG1 10 3 6 1 2 0 0 22
NLRP1 4 0 9 4 3 0 1 21
AP1B1 10 1 1 0 2 0 0 14
GJB4 7 1 3 3 0 0 0 13
KRT14 4 3 0 1 5 0 0 13
LOC129935618, WNT10A 0 0 7 2 0 0 0 9
LORICRIN 3 2 2 1 0 0 0 8
SERPINB7 6 0 1 0 1 0 0 8
GJA1 4 0 3 0 0 0 0 7
KDSR 4 3 0 0 1 0 0 7
LOC129935619, WNT10A 0 0 6 1 0 0 0 7
SMARCAD1 3 0 0 0 4 0 0 7
AQP5 5 1 0 0 0 0 0 6
LOC129935625, WNT10A 0 0 2 3 0 0 0 5
RSPO1 2 1 1 0 0 0 0 4
DSG1, LOC126862720 0 0 0 2 1 0 0 3
KRT83 1 1 0 1 0 0 0 2
PERP 2 0 0 0 0 0 0 2
PI4KA, SNAP29 0 0 0 0 2 0 0 2
SERPINA12 2 0 0 0 0 0 0 2
TUFT1 2 0 0 0 0 0 0 2
COL20A1 0 0 1 0 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4 0 0 1 0 0 0 0 1
CRYL1, GJB6 0 0 1 0 0 0 0 1
CTSC, GRM5, TYR 0 0 1 0 0 0 0 1
GGT2, SNAP29 0 1 0 0 0 0 0 1
GJB2, GJB6 0 0 1 0 0 0 0 1
KRT16 0 0 1 0 0 0 0 1
LOC129935620, LOC129935621, LOC129935622, LOC129935623, LOC129935624, LOC129935625, WNT10A 1 0 0 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 1
NIPAL4 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 150 19 258 522 56 1 0 1006
Illumina Laboratory Services, Illumina 1 1 477 129 164 0 0 771
Fulgent Genetics, Fulgent Genetics 66 63 319 65 17 0 0 529
OMIM 133 0 1 0 0 0 0 134
Natera, Inc. 4 0 22 13 6 0 0 45
Genome-Nilou Lab 0 1 3 1 34 0 0 38
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 1 11 0 0 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 7 2 3 0 0 0 0 12
3billion 7 3 1 0 0 0 0 11
Mendelics 2 3 3 1 1 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 5 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 1 0 0 0 0 0 8
Revvity Omics, Revvity 5 2 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 3 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 3 2 2 0 0 0 0 7
Baylor Genetics 2 2 2 0 0 0 0 6
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine 2 3 1 0 0 0 0 6
Department of Prosthodontics, Peking University School and Hospital of Stomatology 5 0 0 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 3 2 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 2 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 2 1 1 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 4 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 2 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University 3 0 0 0 0 0 0 3
Institute for Human Genetics, University Medical Center Freiburg 2 0 0 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
State Key Laboratory Of Oral Diseases, Sichuan University 2 0 0 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
Counsyl 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Faculty of Allied and Health Sciences, Imperial College of Business Studies 1 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 0 1
Institute of Dermatology, Anhui Medical University 0 1 0 0 0 0 0 1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center 0 0 1 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Medical Genetics Research Center, Mashhad University of Medical Sciences 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 0 0 1 0 0 0 0 1

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