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
175 92 161 140 45 3 535

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mucolipidosis type II; Pseudo-Hurler polydystrophy 71 82 51 115 20 0 327
Mucolipidosis type II 97 8 110 14 21 0 239
Pseudo-Hurler polydystrophy 37 3 58 10 12 0 117
not provided 19 0 14 19 23 3 75
not specified 0 0 2 5 14 0 21
Mucolipidosis 9 3 0 0 0 0 12
Mucopolysaccharidosis, MPS-III-A 6 0 0 0 0 0 6
GNPTAB-Related Disorders 3 0 1 0 0 0 4
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, atypical 1 0 0 0 0 0 1
Mucolipidosis, Type III Alpha/Beta 0 0 0 0 1 0 1
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 66 12 33 121 20 0 252
GeneReviews 120 0 0 0 0 0 120
Natera, Inc. 11 2 56 5 14 0 88
Illumina Clinical Services Laboratory,Illumina 3 0 57 9 13 0 82
Counsyl 16 24 19 0 0 0 59
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 16 0 6 0 11 0 33
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 27 1 1 0 0 30
Integrated Genetics/Laboratory Corporation of America 14 5 1 3 6 0 29
Myriad Women's Health, Inc. 1 24 0 0 0 0 25
GeneDx 6 0 3 1 12 0 22
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 4 13 0 21
OMIM 15 0 0 0 0 0 15
Baylor Genetics 5 0 5 0 0 0 10
PreventionGenetics, PreventionGenetics 0 0 0 2 8 0 10
Fulgent Genetics,Fulgent Genetics 2 1 5 0 0 0 8
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
Centogene AG - the Rare Disease Company 1 1 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 1 1 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 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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