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
36 60 89 9 12 181

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis, MPS-III-B 28 53 43 3 3 116
not provided 11 4 14 4 6 37
Sanfilippo syndrome 2 0 25 3 2 32
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 5 3 12 1 3 23
not specified 0 0 0 0 7 7
Inborn genetic diseases 2 1 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

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 9 44 35 1 0 89
Illumina Clinical Services Laboratory,Illumina 3 1 27 3 2 36
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 1 11 0 7 27
Invitae 5 2 11 1 3 22
OMIM 15 0 1 0 0 16
Integrated Genetics/Laboratory Corporation of America 6 0 0 0 2 8
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 3 4 8
GeneDx 4 1 0 0 2 7
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 4 3 0 0 7
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 1 0 4
Ambry Genetics 2 1 0 0 0 3
PreventionGenetics 0 0 0 0 3 3
Fulgent Genetics,Fulgent Genetics 0 1 2 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
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
GeneReviews 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

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