ClinVar Miner

Variants studied for bulbospinal muscular atrophy

Included ClinVar conditions (20):
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 risk factor not provided total
145 62 404 99 69 1 5 759

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 risk factor not provided total
PLEKHG5 6 2 136 37 23 0 2 204
SLC12A6 12 32 76 23 8 0 1 149
SLC52A3 32 2 55 14 11 0 0 105
SLC52A2 19 3 59 16 7 0 0 102
VRK1 13 6 41 1 4 0 1 60
AR 29 5 12 2 5 0 0 53
AR, LOC109504725 5 0 2 1 9 1 0 18
EXOSC3 9 3 5 1 2 0 0 18
TSEN2 4 4 7 0 0 0 0 15
TSEN54 5 4 2 0 0 0 0 10
SEPSECS 4 1 2 0 0 0 0 7
NOP10, SLC12A6 0 0 0 4 0 0 0 4
EMC4, SLC12A6 0 0 3 0 0 0 0 3
EXOSC8 2 0 1 0 0 0 1 3
TSEN15 3 0 0 0 0 0 0 3
TSEN34 1 0 2 0 0 0 0 3
ADCK5, BOP1, CPSF1, CYC1, CYHR1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28 0 0 1 0 0 0 0 1
CHMP1A 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 53 10 303 72 57 0 0 495
Illumina Clinical Services Laboratory,Illumina 1 0 71 25 7 0 0 104
GeneReviews 58 0 1 0 1 1 0 61
OMIM 52 0 0 0 0 0 0 52
Counsyl 2 31 10 2 0 0 0 45
Genetic Services Laboratory, University of Chicago 8 5 10 0 0 0 0 23
Fulgent Genetics,Fulgent Genetics 2 3 8 0 0 0 0 13
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 1 5 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 1 0 0 6 0 0 8
Baylor Miraca Genetics Laboratories, 4 2 0 0 0 0 0 6
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 0 4
Undiagnosed Diseases Network,NIH 1 1 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Institute of Human Genetics,Cologne University 1 2 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 0 2
Duke University Health System Sequencing Clinic,Duke University Health System 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 0 2
Clinical Genetics,University of Leipzig 1 1 0 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 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.