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
37 26 230 20 68 378

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NBEAL2 27 23 180 16 31 276
C10orf55, PLAU 1 0 18 1 23 43
GFI1B 7 3 13 1 0 22
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: 23
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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
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
Genetics and Molecular Pathology, SA Pathology 0 1 3 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 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
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

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