ClinVar Miner

Variants in gene MUC5B

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
1 2 1382 400 217 1 57 1980

Condition and significance breakdown #

Total conditions: 30
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not specified 0 0 1354 144 102 0 0 1593
not provided 0 0 22 279 208 0 0 501
Interstitial lung disease 2 1 0 17 4 2 0 0 24
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 16 16
Cervical cancer 0 0 0 0 0 0 14 14
MUC5B-related disorder 0 0 1 7 6 0 0 14
Malignant tumor of esophagus 0 0 0 0 0 0 14 14
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 14 14
Colon adenocarcinoma 0 0 0 0 0 0 12 12
Acute myeloid leukemia 0 0 0 0 0 0 11 11
Gastric cancer 0 0 0 0 0 0 11 11
Familial cancer of breast 0 0 0 0 0 0 8 8
Lung cancer 0 0 0 0 0 0 7 7
Colorectal cancer 0 0 0 0 0 0 5 5
Thymoma 0 0 0 0 0 0 5 5
Uterine carcinosarcoma 0 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 0 1 1
Antisynthetase syndrome 0 0 0 0 0 1 0 1
Germ cell tumor of testis 0 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 1 1
Pulmonary fibrosis 0 1 0 0 0 0 0 1
Pulmonary fibrosis, idiopathic, susceptibility to 1 0 0 0 0 0 0 1
Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B 0 0 1 0 0 0 0 1
Susceptibility to severe COVID-19 0 1 0 0 0 0 0 1
Uveal melanoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Ambry Genetics 0 0 1351 106 0 0 0 1457
CeGaT Center for Human Genetics Tuebingen 0 0 6 254 40 0 0 300
Breakthrough Genomics, Breakthrough Genomics 0 0 4 27 148 0 0 179
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 6 33 101 0 0 141
GeneDx 0 0 0 0 105 0 0 105
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 57 57
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 8 28 0 0 36
PreventionGenetics, part of Exact Sciences 0 0 1 7 6 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 1 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 5 2 1 0 0 8
Eurofins Ntd Llc (ga) 0 0 1 1 4 0 0 6
Baylor Genetics 0 0 5 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 1 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 2 1 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 1 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
OMIM 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.