ClinVar Miner

Variants studied for adrenal cortex disease

Included ClinVar conditions (16):
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
105 72 100 84 58 415

Gene and significance breakdown #

Total genes and gene combinations: 25
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNJ5 5 0 59 21 18 103
NR0B1 67 3 2 0 0 70
CYP11B2, LOC106799834 0 0 14 28 16 58
CYP11B1 1 0 10 20 17 48
TP53 5 40 4 0 0 48
CYP11B1, LOC106799833 1 1 5 14 7 28
CLCN2 11 0 1 0 0 12
CTNNB1 0 11 0 0 0 11
NRAS 0 5 0 0 0 5
CACNA1D 2 1 2 0 0 4
PIK3CA 0 4 0 0 0 4
ATP1A1 3 0 0 0 0 3
ATP2B3 3 0 0 0 0 3
BRAF 0 3 0 0 0 3
GNAS 0 3 0 0 0 3
ABCD1 2 0 0 0 0 2
TBX19 0 0 2 0 0 2
CHEK2 0 0 1 0 0 1
CXorf21, DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3 1 0 0 0 0 1
CXorf21, DMD, FTHL17, GK, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1 0 0 0 0 1
CXorf21, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1 1 0 0 0 0 1
CYP11B2, LOC106799834, LOC110673971 0 0 0 1 0 1
H3F3A 0 1 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 1
MEN1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 88 84 58 230
Database of Curated Mutations (DoCM) 0 65 0 0 0 65
OMIM 46 0 0 0 0 46
Institute of Human Genetics,Klinikum rechts der Isar 32 0 0 0 0 32
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 13 0 2 0 0 15
Fulgent Genetics 7 2 5 0 0 14
Invitae 4 0 1 0 0 5
Ute Scholl Laboratory,Heinrich Heine University Duesseldorf 5 0 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 2 0 0 0 2
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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.