ClinVar Miner

Variants studied for Autosomal dominant polycystic kidney disease

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
111 49 330 205 110 801

Gene and significance breakdown #

Total genes and gene combinations: 18
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD2 49 13 206 142 32 439
PKD1 44 36 32 25 69 205
LOC129992813, PKD2 10 0 82 37 8 137
PKHD1 1 0 2 1 0 4
GANAB 1 0 2 0 0 3
LOC123477784, LOC129992813, LOC129992814, PKD2 2 0 0 0 0 2
LRP6 0 0 2 0 0 2
ABCG2, DMP1, DSPP, FAM13A, GPRIN3, HERC3, HERC5, HERC6, HSD17B11, HSD17B13, IBSP, KLHL8, MEPE, NAP1L5, NUDT9, PIGY, PKD2, PPM1K, PYURF, SNCA, SPARCL1, SPP1, TIGD2 1 0 0 0 0 1
BRICD5, CASKIN1, DNASE1L2, E4F1, MLST8, PGP, PKD1, RAB26, TRAF7 1 0 0 0 0 1
DKK3 0 0 1 0 0 1
DKK3, LOC130005346 0 0 1 0 0 1
IFT140 1 0 0 0 0 1
LOC130058212, LOC130058213, MIR3180-5, MIR4516, PKD1 1 0 0 0 0 1
LRP5 0 0 1 0 0 1
MIR1225, PKD1 0 0 0 0 1 1
ONECUT2 0 0 1 0 0 1
PKD1, RAB26 1 0 0 0 0 1
PKD2, SPP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 50 10 280 176 37 553
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 16 20 17 24 72 149
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 36 15 22 1 0 74
Molecular Genetics, Royal Melbourne Hospital 7 2 5 1 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 4 0 2 2 3 11
Illumina Laboratory Services, Illumina 0 0 4 1 0 5
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 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.