ClinVar Miner

Variants studied for alpha granule disease

Included ClinVar conditions (4):
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
38 34 233 20 68 391

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NBEAL2 28 31 183 16 31 288
C10orf55, PLAU 1 0 18 1 23 43
GFI1B 7 3 13 1 0 23
C10orf55, LOC126860960, PLAU 0 0 9 1 9 19
C10orf55, LOC130004104, PLAU 0 0 3 1 5 9
CCDC12, NBEAL2 0 0 7 0 0 7
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, CCDC15, CDON, CHEK1, DCPS, DDX25, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, HEPACAM, HEPN1, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, OPCML, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, ROBO3, ROBO4, RPUSD4, SIAE, SLC37A2, SNX19, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBRG1, THYN1, TIRAP, TMEM218, TMEM45B, TP53AIP1, VPS26B, VSIG2, ZBTB44 1 0 0 0 0 1
C10orf55, LOC110121485, LOC124416840, LOC124416841, LOC126860959, LOC126860960, LOC126860961, LOC130004104, LOC130004105, LOC130004106, LOC130004107, PLAU 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 183 19 65 267
NIHR Bioresource Rare Diseases, University of Cambridge 17 5 13 0 0 35
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 4 16 11 1 0 32
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 13 0 0 13
OMIM 12 0 0 0 0 12
Fulgent Genetics, Fulgent Genetics 2 8 1 0 0 11
Genome-Nilou Lab 0 0 0 0 9 9
Baylor Genetics 0 0 6 0 0 6
Revvity Omics, Revvity 0 0 5 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 2 2 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 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.