ClinVar Miner

Variants studied for Hypoparathyroidism-deafness-renal disease syndrome

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 not provided total
22 2 46 2 33 1 105

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GATA3 21 2 46 2 33 1 104
ACBD7, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, C1QL3, CACNB2, CALML3, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CUBN, DCLRE1C, DHTKD1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GDI2, HACD1, HSPA14, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, MCM10, MEIG1, MINDY3, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PHYH, PRKCQ, PROSER2, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SLC39A12, ST8SIA6, STAM, SUV39H2, TAF3, TASOR2, TRDMT1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, VIM 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 44 2 33 0 79
OMIM 14 0 0 0 0 0 14
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Mendelics 1 0 1 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 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.