ClinVar Miner

Variants in gene GNPTAB

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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
141 49 69 70 42 3 325

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
I cell disease 94 2 30 11 4 0 140
not provided 19 0 13 60 39 3 125
I cell disease; Pseudo-Hurler polydystrophy 20 44 27 0 1 0 91
Mucolipidosis, Type III Alpha/Beta 0 0 28 11 4 0 43
Pseudo-Hurler polydystrophy 35 2 1 0 0 0 37
not specified 0 0 1 4 14 0 19
Mucopolysaccharidosis, MPS-III-A 6 0 0 0 0 0 6
Mucolipidosis 3 2 0 0 0 0 5
GNPTAB-Related Disorders 2 0 1 0 0 0 3
Inborn genetic diseases 2 0 0 0 0 0 2
Coxa plana; Juvenile osteochondrosis of spine 0 1 0 0 0 0 1
MUCOLIPIDOSIS III ALPHA/BETA 0 1 0 0 0 0 1
Mucolipidosis III alpha/beta, atypical 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneReviews 120 0 0 0 0 0 120
Invitae 9 2 6 52 20 0 89
Counsyl 16 24 19 0 0 0 59
Illumina Clinical Services Laboratory,Illumina 2 0 30 11 4 0 47
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 16 0 6 0 11 0 33
GeneDx 6 0 3 1 12 0 22
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 4 4 13 0 21
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 20 0 0 0 0 20
Integrated Genetics/Laboratory Corporation of America 8 3 0 2 5 0 18
OMIM 15 0 0 0 0 0 15
PreventionGenetics,PreventionGenetics 0 0 0 2 8 0 10
Fulgent Genetics,Fulgent Genetics 2 1 5 0 0 0 8
Baylor Genetics 4 0 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 3 0 0 4
SNPedia 0 0 0 0 0 3 3
Ambry Genetics 2 0 0 0 0 0 2
Mendelics 0 1 0 1 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
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
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 1 0 0 0 0 0 1

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