ClinVar Miner

Variants studied for bulbospinal muscular atrophy

Included ClinVar conditions (17):
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
139 76 767 197 126 1 5 1257

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PLEKHG5 16 2 321 103 48 0 2 469
SLC12A6 15 33 169 22 33 0 1 266
VRK1 23 14 102 41 4 0 1 175
SEPSECS 4 4 76 8 16 0 0 106
AR 48 9 32 6 5 0 0 100
EXOSC3 9 3 24 11 7 0 0 47
AR, LOC109504725 8 0 2 1 8 1 0 20
TSEN2 5 4 8 0 0 0 0 16
EXOSC3, TRMT10B 0 0 13 1 1 0 0 15
TSEN54 5 4 7 0 0 0 0 15
EXOSC8 2 0 5 0 1 0 1 7
EMC4, SLC12A6 0 0 5 0 0 0 0 5
NOP10, SLC12A6 0 0 0 4 0 0 0 4
TSEN34 1 1 2 0 0 0 0 4
TSEN15 3 1 0 0 0 0 0 3
PLEKHG5, TNFRSF25 0 0 1 0 1 0 0 2
ATP2B2 0 0 0 0 1 0 0 1
CHMP1A 0 1 0 0 0 0 0 1
CLN6 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 91 19 381 153 41 0 0 685
Illumina Clinical Services Laboratory,Illumina 1 0 293 44 90 0 0 428
Natera, Inc. 1 1 94 7 15 0 0 118
Counsyl 0 31 10 2 0 0 0 43
OMIM 35 0 0 0 0 0 0 35
Baylor Genetics 8 4 16 0 0 0 0 28
Genetic Services Laboratory, University of Chicago 8 4 9 0 0 0 0 21
GeneReviews 13 0 1 0 1 1 0 16
Fulgent Genetics,Fulgent Genetics 2 3 8 0 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 4 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 1 0 0 6 0 0 8
Broad Institute Rare Disease Group, Broad Institute 2 0 4 0 2 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 2 3 0 0 5
Institute of Human Genetics,Cologne University 1 2 1 0 0 0 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 0 3
Mendelics 0 1 0 0 1 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 0 2
Clinical Genetics,University of Leipzig 1 1 0 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 0 1
Sema4,Sema4 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 1

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