ClinVar Miner

Variants studied for skin neoplasm

Included ClinVar conditions (65):
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 protective risk factor not provided total
182 475 560 102 129 1 3 18 1405

Gene and significance breakdown #

Total genes and gene combinations: 82
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
LZTR1 42 110 250 1 0 0 0 2 383
ANTXR2 17 14 103 16 29 0 0 0 177
TP53 0 113 0 0 0 0 0 0 113
KRT4 3 0 24 16 42 0 0 0 84
FGFR1 4 8 43 26 2 0 0 2 81
KRT13 2 0 17 6 35 0 0 0 60
SMARCB1 13 2 19 3 15 0 0 1 53
NSDHL 10 5 9 10 2 0 0 4 37
PIK3CA 14 23 4 0 0 0 0 3 35
FGFR3 12 0 12 5 1 0 0 0 30
CTNNB1, LOC126806658 9 24 0 1 0 0 0 0 28
HRAS, LRRC56 9 14 7 4 0 0 0 1 28
KRAS 6 3 4 6 0 0 0 5 22
BRAF 0 19 0 0 0 0 0 0 19
LOC130067016, LZTR1 3 3 13 0 0 0 0 0 19
NF2 5 2 10 2 0 0 0 0 19
NRAS 5 14 1 0 0 0 0 0 16
KIT 5 3 4 3 0 0 0 0 14
MUTYH 4 2 8 0 0 0 0 0 14
CDKN2A 0 10 2 0 0 0 0 0 12
FBXW7 0 10 0 0 0 0 0 0 10
FGF23 0 1 8 0 0 0 0 0 9
MAP2K1 0 8 0 0 0 0 0 0 8
ERBB2 0 6 0 0 0 0 0 0 6
EZH2 0 6 0 0 0 0 0 0 6
HAVCR2 1 1 3 0 1 0 3 0 6
IDH1 1 5 1 0 0 0 0 0 6
B2M 0 5 0 0 0 0 0 0 5
PIK3R1 0 5 0 0 0 0 0 0 5
SF3B1 0 5 0 0 0 0 0 0 5
CDK4 0 4 0 0 0 0 0 0 4
CNOT9 0 4 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 4
CTNNB1, LOC126806659 2 0 1 1 0 0 0 0 4
PTEN 0 4 0 0 0 0 0 0 4
ARAF 0 3 0 0 0 0 0 0 3
GALNT3 0 0 3 0 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 3
HIF1A 0 3 0 0 0 0 0 0 3
MTOR 0 3 0 0 0 0 0 0 3
MYC 0 3 0 0 0 0 0 0 3
NEK9 3 0 0 0 0 0 0 0 3
RAC1 0 3 0 0 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 0 2
ANTXR2, LOC129992737 0 0 1 0 1 0 0 0 2
ANTXR2, LOC129992738 0 0 1 0 1 0 0 0 2
CTNNB1 0 0 0 2 0 0 0 0 2
DERL3, SMARCB1 0 0 2 0 0 0 0 0 2
GNA11 1 1 0 0 0 0 0 0 2
GNA14 0 0 2 0 0 0 0 0 2
KDR 0 1 1 0 0 0 0 0 2
MAP2K2 0 2 0 0 0 0 0 0 2
NOTCH1 2 0 0 0 0 0 0 0 2
NOTCH2 2 0 0 0 0 0 0 0 2
RAF1 0 2 0 0 0 0 0 0 2
AKT1 0 1 0 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 1
BCL2L12, LOC130064935 0 1 0 0 0 0 0 0 1
BCR, C22orf15, CHCHD10, DERL3, DRICH1, GGTLC2, GNAZ, IGLC1, IGLL1, IGLL5, MMP11, PRAME, RAB36, RGL4, RSPH14, SMARCB1, VPREB3, ZNF70 1 0 0 0 0 0 0 0 1
COL2A1 0 1 0 0 0 0 0 0 1
COL7A1 0 1 0 0 0 0 0 0 1
CRNKL1, LOC130065490 0 1 0 0 0 0 0 0 1
FH 0 1 0 0 0 0 0 0 1
GJA4 1 0 0 0 0 0 0 0 1
KDM4C 0 0 1 0 0 0 0 0 1
KL 0 0 1 0 0 0 0 0 1
KMT2D 0 0 1 0 0 0 0 0 1
KNSTRN 0 1 0 0 0 0 0 0 1
KRT10 0 1 0 0 0 0 0 0 1
LOC107303340, VHL 0 1 0 0 0 0 0 0 1
MAP3K3 1 0 0 0 0 0 0 0 1
MRE11 0 0 1 0 0 0 0 0 1
PPP6C 0 1 0 0 0 0 0 0 1
PTCH1 0 0 1 0 0 0 0 0 1
RAD50 1 0 0 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 0 1
SLC45A2 0 0 0 0 0 1 0 0 1
SMO 1 0 0 0 0 0 0 0 1
STK19 0 1 0 0 0 0 0 0 1
TBX3 0 0 1 0 0 0 0 0 1
TBX5 0 1 0 0 0 0 0 0 1
VHL 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Baylor Genetics 22 80 246 0 0 0 0 0 347
Illumina Laboratory Services, Illumina 1 2 172 38 119 0 0 0 332
Database of Curated Mutations (DoCM) 1 303 0 0 0 0 0 0 304
Fulgent Genetics, Fulgent Genetics 27 9 91 61 4 0 0 0 192
OMIM 72 0 0 0 0 0 3 0 75
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 8 0 0 0 0 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 7 7 6 0 0 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 5 9 0 0 0 0 0 19
GeneReviews 1 0 0 0 0 0 0 15 16
Genetics and Molecular Pathology, SA Pathology 5 6 4 0 0 0 0 0 15
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 6 6 0 0 0 0 0 14
MGZ Medical Genetics Center 3 8 1 0 0 0 0 0 12
Clinical Genomics Laboratory, Washington University in St. Louis 5 2 4 0 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 5 4 0 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 11 0 0 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 10 0 0 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 7 0 0 0 0 0 0 9
Yale Center for Mendelian Genomics, Yale University 6 2 0 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 4 1 0 0 0 0 0 6
Revvity Omics, Revvity 1 2 2 0 0 0 0 0 5
Mendelics 3 0 0 0 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 2 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 1 0 3 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 2 0 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 0 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 2 0 0 0 0 0 0 3
3billion 2 0 0 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Molecular Genetics, Royal Melbourne Hospital 0 1 2 0 0 0 0 0 3
Anatomical Molecular Laboratory, Singapore General Hospital 0 0 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 0 0 2
UAB Medical Genomics Laboratory, UAB Medicine 2 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 0 0 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 0 0 2
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School 0 2 0 0 0 0 0 0 2
Institute of Tissue Medicine and Pathology, University of Bern 0 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 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 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Aldo Moro University of Bari 1 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 0 1
Clinical Genetics Department, Hospital Sant Joan de Deu 1 0 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 0 0 1
Genomics For Life 1 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 1
Fernandez-Valle lab, University of Central Florida 1 0 0 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Baqiyatallah University of Medical Sciences 0 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 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 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 0 1

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