ClinVar Miner

Variants studied for adrenal gland hyperfunction

Included ClinVar conditions (14):
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
23 3 841 409 261 1529

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CACNA1H 1 0 651 382 130 1157
KCNJ5 5 0 80 3 37 125
CYP11B2, LOC106799834 0 0 38 13 40 91
CYP11B1 1 0 44 3 32 80
CYP11B1, LOC106799833 1 2 13 7 22 45
CACNA1D 2 1 8 0 0 10
CLCN2 7 0 2 0 0 9
GNAS 6 0 2 0 0 8
ABCA3, ANTKMT, BAIAP3, BRICD5, C16orf91, C1QTNF8, CACNA1H, CASKIN1, CCDC154, CCDC78, CCNF, CHTF18, CIAO3, CLCN7, CRAMP1, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MLST8, MRPS34, MSLN, MSRB1, NDUFB10, NME3, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PIGQ, PKD1, PRR25, PTX4, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLC9A3R2, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZNF598 0 0 1 0 0 1
ANTKMT, BAIAP3, C16orf91, C1QTNF8, CACNA1H, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MRPS34, MSLN, MSRB1, NDUFB10, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PKD1, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SLC9A3R2, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZNF598 0 0 1 0 0 1
ANTKMT, C1QTNF8, CACNA1H, CCDC78, CHTF18, CIAO3, GNG13, HAGHL, LMF1, METRN, MSLN, PRR25, RPUSD1, SOX8, SSTR5 0 0 1 0 0 1
CYP11B2, LOC106799834, LOC110673971 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 646 382 129 1157
Illumina Clinical Services Laboratory,Illumina 0 0 172 27 131 330
OMIM 18 0 0 0 0 18
Fulgent Genetics,Fulgent Genetics 3 1 14 0 0 18
Baylor Genetics 1 0 5 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 4 0 0 5
Ute Scholl Laboratory,Heinrich Heine University Duesseldorf 5 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
New York Genome Center 0 0 1 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.