ClinVar Miner

Variants studied for head and neck cancer

Included ClinVar conditions (30):
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
786 433 1342 951 223 13 2 6 7 3 3592

Gene and significance breakdown #

Total genes and gene combinations: 90
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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 696 78 1219 907 146 0 0 0 0 2 2899
TP53 37 186 12 18 8 0 0 0 0 0 244
ELP4, PAX6 2 0 57 2 37 0 0 0 0 0 98
PIK3CA 3 43 0 0 0 0 0 0 0 0 43
PAX6 4 4 15 5 6 0 0 0 0 0 34
BAP1 3 0 0 12 12 0 0 0 2 0 29
LPAR6, RB1 9 0 1 2 9 0 0 0 0 0 21
FBXW7 0 15 0 0 0 0 0 0 0 0 15
CDKN2A 2 11 1 0 0 0 0 0 0 0 14
EGFR 0 7 0 0 0 0 0 6 0 0 13
HRAS, LRRC56 6 9 0 0 0 0 0 0 0 0 11
BRAF 1 7 0 0 0 0 0 0 0 0 8
NFE2L2 0 8 0 0 0 0 0 0 0 0 8
RB1, RB1-DT 0 1 7 0 0 0 0 0 0 0 8
PTEN 1 4 1 0 0 0 0 0 0 0 6
B2M 0 5 0 0 0 0 0 0 0 0 5
LOC106014249, PAX6 0 0 4 0 1 0 0 0 0 0 5
RHOA 0 5 0 0 0 0 0 0 0 0 5
CREBBP 0 4 0 0 0 0 0 0 0 0 4
CTNNB1, LOC126806658 0 4 0 0 0 0 0 0 0 0 4
ITM2B, MED4, NUDT15, RB1 3 0 1 0 0 0 0 0 0 0 4
MBD4 0 0 0 0 0 0 0 0 4 0 4
SMAD4 0 4 0 0 0 0 0 0 0 0 4
XRCC1 0 0 0 0 0 4 0 0 0 0 4
COL4A1 1 0 2 0 0 0 0 0 0 0 3
COL4A2 0 1 2 0 0 0 0 0 0 0 3
GNAQ 0 3 0 0 0 0 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 0 0 3
IDH2 0 3 0 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
PPP2R1A 0 3 0 0 0 0 0 0 0 0 3
PTCH1 0 0 3 0 0 0 0 0 0 0 3
RAC1 0 3 0 0 0 0 0 0 0 0 3
TRIM44 1 0 0 0 2 0 0 0 0 0 3
​intergenic 0 0 2 0 0 0 0 0 0 0 2
ABL1 2 0 0 0 0 0 0 0 0 0 2
CYP26C1 0 0 0 2 0 0 0 0 0 0 2
EP300 0 2 0 0 0 0 0 0 0 0 2
ERBB2 0 2 0 0 0 0 0 0 0 0 2
FGFR3 0 2 0 0 0 0 0 0 0 0 2
GNA11 0 2 0 0 0 0 0 0 0 0 2
H3C11 0 2 0 0 0 0 0 0 0 0 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
MAP2K1 0 2 0 0 0 0 0 0 0 0 2
MAP2K2 0 2 0 0 0 0 0 0 0 0 2
MST1R 0 0 0 1 0 0 0 0 1 0 2
TNFRSF10B 1 1 0 0 0 0 0 0 0 0 2
U2AF1 0 2 0 0 0 0 0 0 0 0 2
AKT1 0 1 0 0 0 0 0 0 0 0 1
ANKRD17 0 0 0 0 0 1 0 0 0 0 1
APEX1 0 0 0 0 0 0 0 0 0 1 1
CCDC3 0 0 0 0 0 0 1 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
DPYD 0 1 0 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
FANCM 0 1 0 0 0 0 0 0 0 0 1
FHIT 0 0 0 0 0 1 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
KEAP1 0 0 1 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
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
MAPK1 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
NF1 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
POLR1C, SLC29A1 0 0 1 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
TMEM127 0 0 1 0 0 0 0 0 0 0 1
UBE3B 0 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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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 384 25 1017 837 115 0 0 0 0 0 2378
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 368 31 43 15 1 0 0 0 0 0 458
All of Us Research Program, National Institutes of Health 0 0 250 125 31 0 0 0 0 0 406
Database of Curated Mutations (DoCM) 0 342 0 0 0 0 0 0 0 0 342
Illumina Laboratory Services, Illumina 0 0 125 26 66 0 0 0 0 0 217
Mendelics 6 9 22 23 28 0 0 0 0 0 88
Fulgent Genetics, Fulgent Genetics 18 2 15 8 2 0 0 0 0 0 45
OMIM 36 0 0 0 0 0 0 0 7 0 43
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 16 3 21 0 0 0 0 0 0 0 40
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 14 24 0 0 0 0 0 38
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
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 12 1 0 1 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
Department of Biological Science, Sunandan Divatia School of Science, NMIMS University 0 0 0 0 0 9 2 0 0 0 11
Baylor Genetics 5 2 3 0 0 0 0 0 0 0 10
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
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
Genome-Nilou Lab 0 0 0 0 6 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 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
Revvity Omics, Revvity 0 0 3 0 0 0 0 0 0 0 3
Genome Sciences Centre, British Columbia Cancer Agency 0 1 2 0 0 0 0 0 0 0 3
Medgenome Labs Pvt Ltd 1 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 2 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
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
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
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
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 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
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 0 0 0 1

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