ClinVar Miner

Variants studied for Multiple endocrine neoplasia type 4

Coded as:
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 total
63 18 461 198 35 759

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CDKN1B 61 4 458 198 34 739
RET 0 14 0 0 0 14
CDKN1B, LOC130007457 1 0 1 0 0 2
CDKN1B, LOC130007458 0 0 2 0 0 2
APOLD1, BCL2L14, BORCS5, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, ETV6, FAM234B, GABARAPL1, GPR19, GPRC5A, GPRC5D, GSG1, HEBP1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRK1, LRP6, MAGOHB, MANSC1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH2, PRR4, STYK1, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TMEM52B, YBX3 1 0 0 0 0 1
CDKN1B, GPR19, LOC130007456 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 58 2 417 194 14 685
Illumina Laboratory Services, Illumina 0 0 33 6 27 66
Baylor Genetics 1 1 38 0 0 40
Database of Curated Mutations (DoCM) 0 14 0 0 0 14
Fulgent Genetics, Fulgent Genetics 0 0 6 3 1 10
OMIM 6 0 0 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 6
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 6 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 4 5
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Mendelics 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 1 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.