ClinVar Miner

Variants in gene NAGLU

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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 total
75 77 150 127 18 379

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 44 11 38 102 11 205
Mucopolysaccharidosis, MPS-III-B 35 60 92 10 11 180
not provided 15 8 20 15 6 62
Sanfilippo syndrome 2 0 10 2 0 14
Intellectual disability 0 0 2 7 0 9
Mucopolysaccharidosis 8 0 0 0 0 8
not specified 0 0 1 0 7 8
Inborn genetic diseases 2 1 0 0 0 3
Mucopolysaccharidosistype IIIB 3 0 0 0 0 3
Charcot-Marie-Tooth disease, axonal type 2V 1 0 1 0 0 2
Hypertrichosis; Abnormality of metabolism/homeostasis; Coarse facial features; Abnormal facial shape; Thick eyebrow; Hepatosplenomegaly; Mucopolysacchariduria; Intellectual disability, severe 2 0 0 0 0 2
none provided 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 44 10 37 112 11 214
Counsyl 9 45 35 1 0 90
Illumina Clinical Services Laboratory,Illumina 3 1 47 4 4 59
Natera, Inc. 9 0 11 5 10 35
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 1 11 0 7 27
Integrated Genetics/Laboratory Corporation of America 16 0 1 0 2 19
OMIM 15 0 1 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 3 4 8 1 0 16
GeneReviews 9 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 3 4 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 7 0 8
Baylor Genetics 2 0 5 0 0 7
GeneDx 4 1 0 0 2 7
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 4 3 0 0 7
Mendelics 4 2 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 1 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 3 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 2 1 5
Ambry Genetics 2 1 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 3 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 3
Myriad Women's Health, Inc. 0 3 0 0 0 3
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1

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