ClinVar Miner

Variants in gene HSD17B4

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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 not provided total
31 55 141 67 29 1 276

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bifunctional peroxisomal enzyme deficiency 15 43 58 13 14 0 136
not provided 5 11 77 18 15 0 118
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 13 4 12 23 15 0 67
Perrault syndrome 1 6 0 34 8 17 0 65
not specified 1 0 11 23 18 0 47
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 1 4 1 0 0 1 7
Perrault syndrome 0 0 1 0 1 0 2
HSD17B4-Related Disorders 1 0 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1
Seizures; Epileptic spasms 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 4 12 31 15 0 75
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 63 1 6 0 72
Counsyl 0 38 19 5 0 0 62
Illumina Clinical Services Laboratory,Illumina 1 0 39 12 18 0 62
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 9 13 17 0 40
GeneDx 3 3 2 12 12 0 32
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 3 3 11 0 18
OMIM 13 0 0 0 0 0 13
PreventionGenetics,PreventionGenetics 0 0 0 3 8 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 5 2 0 0 11
Athena Diagnostics Inc 0 1 1 1 5 0 8
Integrated Genetics/Laboratory Corporation of America 5 2 0 0 1 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 2 1 3 0 7
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
Mendelics 1 1 0 0 1 0 3
Elsea Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Myriad Women's Health, Inc. 0 2 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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