ClinVar Miner

Variants in gene GLB1

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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
61 62 80 14 18 7 193

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 8 48 36 3 0 0 93
not provided 26 8 14 2 12 0 61
GM1 gangliosidosis 5 2 20 6 1 0 34
Morquio syndrome 0 0 22 6 1 0 29
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 13 5 7 1 2 0 28
Infantile GM1 gangliosidosis 18 2 1 0 0 0 21
Mucopolysaccharidosis, MPS-IV-B 15 1 1 0 0 1 18
not specified 0 0 0 5 11 0 14
GM1 gangliosidosis type 2 4 0 2 0 0 6 12
GM1-gangliosidosis, type I, with cardiac involvement 5 0 0 0 0 0 5
Gangliosidosis GM1 type 3 4 0 0 0 0 0 4
Inborn genetic diseases 2 1 1 0 0 0 4
Ependymoma 0 0 1 0 0 0 1
GLB1-Related Disorders 1 0 0 0 0 0 1
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Infantile GM1 gangliosidosis 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 8 46 35 3 0 0 92
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 4 10 0 9 0 42
Illumina Clinical Services Laboratory,Illumina 3 2 22 6 1 0 32
Invitae 13 5 7 1 2 0 28
OMIM 25 0 0 0 0 0 25
GeneDx 9 3 1 2 7 0 22
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 2 2 6 0 12
PreventionGenetics 0 0 0 3 7 0 10
Integrated Genetics/Laboratory Corporation of America 6 0 1 0 0 0 7
Laboratory of Molecular Genetics; Faculty of Medical Sciences - University of Campinas 0 0 0 0 0 6 6
Fulgent Genetics,Fulgent Genetics 1 3 1 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 2 0 0 0 0 5
Ambry Genetics 2 1 1 0 0 0 4
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 2 0 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Mendelics 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 1 1 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Blueprint Genetics, 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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