ClinVar Miner

Variants studied for head and neck neoplasm

Included ClinVar conditions (64):
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 association association not found drug response risk factor not provided total
946 350 1923 1164 297 13 2 6 7 65 4556

Gene and significance breakdown #

Total genes and gene combinations: 93
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association association not found drug response risk factor not provided total
RB1 738 80 1429 1050 157 0 0 0 0 2 3284
CDH23 50 188 112 12 11 0 0 0 0 0 367
AIP 9 10 64 11 16 0 0 0 0 50 140
TP53 38 19 24 18 8 0 0 0 0 0 102
ELP4, PAX6 2 1 57 2 37 0 0 0 0 0 98
GNAS 14 2 25 33 2 0 0 0 0 0 74
PITX2 1 0 38 0 25 0 0 0 0 0 64
BAP1 6 1 18 12 12 0 0 0 2 0 51
C10orf105, CDH23 6 19 10 0 2 0 0 0 0 0 37
PAX6 4 5 16 5 6 0 0 0 0 0 36
AIP, LOC130006206 0 0 20 1 4 0 0 0 0 9 31
HRAS, LRRC56 12 4 12 4 0 0 0 0 0 1 29
RB1, RB1-DT 1 1 25 0 0 0 0 0 0 0 26
KRAS 5 1 13 6 0 0 0 0 0 0 25
LPAR6, RB1 9 0 1 2 9 0 0 0 0 0 21
ALK 0 0 11 1 0 0 0 0 0 0 12
MBD4 0 1 5 0 0 0 0 0 4 0 10
CDH23, LOC111982869 3 4 2 0 0 0 0 0 0 0 9
EGFR 0 1 0 0 0 0 0 6 0 0 7
MEN1 1 2 0 1 3 0 0 0 0 0 7
NF1 5 0 2 0 0 0 0 0 0 0 7
USP8 5 0 1 0 0 0 0 0 0 0 6
LOC106014249, PAX6 0 0 4 0 1 0 0 0 0 0 5
CDKN2A 2 1 1 0 0 0 0 0 0 0 4
ITM2B, MED4, NUDT15, RB1 3 0 1 0 0 0 0 0 0 0 4
PTCH1 0 0 4 0 0 0 0 0 0 0 4
XRCC1 0 0 0 0 0 4 0 0 0 0 4
​intergenic 1 0 2 0 0 0 0 0 0 0 3
COL4A1 1 0 2 0 0 0 0 0 0 0 3
COL4A2 0 1 2 0 0 0 0 0 0 0 3
ING1 3 0 0 0 0 0 0 0 0 0 3
ITM2B, LPAR6, MED4, NUDT15, RB1 2 0 1 0 0 0 0 0 0 0 3
PIK3CA 3 0 0 0 0 0 0 0 0 0 3
TRIM44 1 0 0 0 2 0 0 0 0 0 3
ABL1 2 0 0 0 0 0 0 0 0 0 2
CTNNB1, LOC126806658 1 1 0 0 0 0 0 0 0 0 2
CYP26C1 0 0 0 2 0 0 0 0 0 0 2
GNAI2 1 0 1 0 0 0 0 0 0 0 2
GPR101 2 0 1 0 0 0 0 0 0 2 2
LOC126862483, TP53, WRAP53 0 0 1 1 0 0 0 0 0 0 2
LOC130009754, LOC130009755, LPAR6, RB1 2 0 0 0 0 0 0 0 0 0 2
MST1R 0 0 0 1 0 0 0 0 1 0 2
NRAS 1 0 1 0 0 0 0 0 0 0 2
PTEN 1 0 1 0 0 0 0 0 0 0 2
TNFRSF10B 1 1 0 0 0 0 0 0 0 0 2
TSC1 0 0 2 0 0 0 0 0 0 0 2
AIP, LOC130006204 0 1 0 0 0 0 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 0 1
ALX4 0 0 1 0 0 0 0 0 0 0 1
ANKRD17 0 0 0 0 0 1 0 0 0 0 1
APC 1 0 0 0 0 0 0 0 0 0 1
APEX1 0 0 0 0 0 0 0 0 0 1 1
BRAF 1 0 0 0 0 0 0 0 0 0 1
CCDC3 0 0 0 0 0 0 1 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 0 0 0 0 1
CNTN4 0 0 0 0 0 1 0 0 0 0 1
CYP26A1 0 0 1 0 0 0 0 0 0 0 1
DCDC1 0 0 1 0 0 0 0 0 0 0 1
ELP4 0 0 0 0 1 0 0 0 0 0 1
ELP4, PAX6DRR 0 0 1 0 0 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 0 0 0 0 1
FANCM 0 1 0 0 0 0 0 0 0 0 1
FHIT 0 0 0 0 0 1 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 0 0 1
GRIK2 0 0 0 0 0 1 0 0 0 0 1
ITM2B, LOC124885096, LOC130009751, LOC130009752, LOC130009753, LOC130009754, LOC130009755, RB1, RB1-DT 1 0 0 0 0 0 0 0 0 0 1
ITM2B, LPAR6, MED4, NUDT15, RB1, SUCLA2 1 0 0 0 0 0 0 0 0 0 1
KIT 1 0 0 0 0 0 0 0 0 0 1
LNX1 0 0 0 0 0 0 1 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 0 0 0 0 1
LOC130009754, LOC130009755, RB1 1 0 0 0 0 0 0 0 0 0 1
LOC130062899, STK11 1 0 0 0 0 0 0 0 0 0 1
LOC132090076, SOX5 1 0 0 0 0 0 0 0 0 0 1
LRP2 0 1 0 0 0 0 0 0 0 0 1
MAX 0 0 1 0 0 0 0 0 0 0 1
MMP2 0 0 0 0 0 1 0 0 0 0 1
MUTYH 0 0 1 0 0 0 0 0 0 0 1
NPC1 0 0 0 0 1 0 0 0 0 0 1
OPA1 0 0 1 0 0 0 0 0 0 0 1
PALB2 0 0 1 0 0 0 0 0 0 0 1
PLCB4 1 0 0 0 0 0 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 0 0 0 1
PREX2 0 0 0 0 0 1 0 0 0 0 1
RASGRP3 0 0 0 0 0 1 0 0 0 0 1
SAMD4A 0 0 0 0 0 1 0 0 0 0 1
SCIMP, ZNF594-DT 0 0 1 0 0 0 0 0 0 0 1
SNTB1 0 0 0 0 0 1 0 0 0 0 1
SPG7 0 0 1 0 0 0 0 0 0 0 1
SUFU 0 0 1 0 0 0 0 0 0 0 1
TMEM127 0 0 1 0 0 0 0 0 0 0 1
UBE3B 0 0 0 1 0 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association association not found drug response risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 422 30 1211 972 125 0 0 0 0 0 2760
All of Us Research Program, National Institutes of Health 0 0 312 163 33 0 0 0 0 0 508
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 368 31 43 15 1 0 0 0 0 0 458
Fulgent Genetics, Fulgent Genetics 54 78 218 65 10 0 0 0 0 0 425
Illumina Laboratory Services, Illumina 1 0 174 36 108 0 0 0 0 0 319
Baylor Genetics 56 164 89 0 0 0 0 0 0 0 309
Mendelics 6 9 25 23 28 0 0 0 0 0 91
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 31 4 52 2 0 0 0 0 0 0 89
OMIM 64 0 0 0 0 0 0 0 7 0 71
GeneReviews 0 8 0 1 0 0 0 0 0 60 69
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 14 31 0 0 0 0 0 45
Institute of Medical Sciences, Banaras Hindu University 34 3 0 0 0 0 0 0 0 0 37
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 20 5 0 0 0 0 0 0 0 0 25
Genetics and Molecular Pathology, SA Pathology 16 3 2 0 0 0 0 0 0 0 21
Color Diagnostics, LLC DBA Color Health 0 0 5 3 12 0 0 0 0 0 20
Juno Genomics, Hangzhou Juno Genomics, Inc 10 6 3 0 0 0 0 0 0 0 19
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 12 1 0 1 0 0 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 2 4 0 0 0 0 0 0 0 14
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 2 7 3 0 0 0 0 0 0 14
Genome-Nilou Lab 0 0 0 0 13 0 0 0 0 0 13
Department of Biological Science, Sunandan Divatia School of Science, NMIMS University 0 0 0 0 0 9 2 0 0 0 11
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 10 0 0 0 0 0 0 0 0 0 10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 6 2 1 0 0 0 0 0 0 0 9
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 7 0 0 0 0 0 0 0 0 0 7
Genetics Program, Instituto Nacional de Cancer 7 0 0 0 0 0 0 0 0 0 7
Genetics, Bhagwan Mahavir Medical Research Centre 0 0 0 0 0 0 0 6 0 0 6
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 0 1 5 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 0 0 0 0 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 0 0 0 0 4
Aziz Sancar Institute of Experimental Medicine, Istanbul University 2 2 0 0 0 0 0 0 0 0 4
Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University 0 0 4 0 0 0 0 0 0 0 4
Department Of Otolaryngology, First Affiliated Hospital Of Xinjiang Medical University 0 0 0 0 0 4 0 0 0 0 4
Swedish National ChiCaP Initative, Genomic Medicine Sweden 3 1 0 0 0 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 0 0 0 0 0 0 0 3
Medgenome Labs Pvt Ltd 1 1 1 0 0 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 1 0 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 0 0 2
Medical Molecular Genetics, University of Birmingham 2 0 0 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 1 0 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 0 0 0 0 2
Korbonits Lab, Queen Mary University of London 0 1 1 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 2 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 0 0 0 0 0 0 0 0 2
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 2 0 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 0 0 0 0 2
Harbour Laboratory, University of Miami Miller School of Medicine 2 0 0 0 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 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 0 0 0 0 1
Cancer Biology Lab, VIT University 0 0 0 0 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 1 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 0 0 0 1
Department of Medical Oncology, City of Hope 1 0 0 0 0 0 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 0 0 0 1

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