ClinVar Miner

Variants in gene HSPG2

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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 total
18 14 573 267 176 908

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 6 4 276 216 116 569
Schwartz-Jampel syndrome 9 7 298 37 88 435
Lethal Kniest-like syndrome 3 2 298 35 88 425
not specified 0 0 55 37 62 143
none provided 0 0 23 26 50 99
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome 0 0 5 0 0 5
Microcephaly 0 0 4 0 0 4
Childhood-Onset Schizophrenia 0 1 0 0 0 1
HSPG2-Related Disorders 0 0 1 0 0 1
Reduced muscle fiber perlecan 0 0 1 0 0 1
Stüve-Wiedemann syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 286 36 87 409
Invitae 2 1 109 180 92 384
Athena Diagnostics Inc 0 1 109 41 72 223
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 58 41 69 168
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 72 17 23 113
GeneDx 3 1 11 2 1 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 11 0 16
Baylor Genetics 0 1 13 0 0 14
OMIM 10 0 0 0 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 8 2 0 10
Gharavi Laboratory,Columbia University 0 0 7 0 0 7
Mendelics 1 1 0 2 1 5
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 1 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 1 5
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 4 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 1
Dr. Guy Rouleau's laboratory,McGill University 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Neurology Laboratory,National Cheng Kung University Hospital 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1

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