ClinVar Miner

Variants in gene HPRT1

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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 other not provided total
99 24 54 73 25 23 3 256

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 36 11 30 57 18 0 1 150
not provided 16 4 15 15 8 0 0 57
Lesch-Nyhan syndrome 45 7 3 1 0 0 0 55
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 15 0 1 0 1 0 0 17
HPRT1-related disorder 2 0 3 3 0 0 2 10
not specified 0 0 5 1 3 0 0 9
Nephrolithiasis/nephrocalcinosis 0 2 1 2 1 0 0 6
Lesch-nyhan syndrome, neurologic variant 2 0 0 0 0 0 0 2
HPRT ANN ARBOR 0 0 0 0 0 1 0 1
HPRT ARLINGTON 0 0 0 0 0 1 0 1
HPRT ASHVILLE 0 0 0 0 0 1 0 1
HPRT CHERMSIDE 1 0 0 0 0 0 0 1
HPRT CHICAGO 1 0 0 0 0 0 0 1
HPRT CONNERSVILLE 1 0 0 0 0 0 0 1
HPRT COORPAROO 1 0 0 0 0 0 0 1
HPRT DETROIT 0 0 0 0 0 1 0 1
HPRT EDINBURGH 0 0 0 0 0 1 0 1
HPRT EVANSVILLE 0 0 0 0 0 1 0 1
HPRT FLINT 0 0 0 0 0 1 0 1
HPRT FUJIMI 0 0 0 0 0 1 0 1
HPRT LONDON 0 0 0 0 0 1 0 1
HPRT MICHIGAN 1 0 0 0 0 0 0 1
HPRT MIDLAND 0 0 0 0 0 1 0 1
HPRT MILWAUKEE 0 0 0 0 0 1 0 1
HPRT MONTREAL 0 0 0 0 0 1 0 1
HPRT MOOSE JAW 0 0 0 0 0 1 0 1
HPRT MUNICH 0 0 0 0 0 1 0 1
HPRT NEW BRITON 0 0 0 0 0 1 0 1
HPRT NEW HAVEN 0 0 0 0 0 1 0 1
HPRT PARIS 0 0 0 0 0 1 0 1
HPRT SWAN 0 0 0 0 0 1 0 1
HPRT TOKYO 0 0 0 0 0 1 0 1
HPRT TOOWONG 0 0 0 0 0 1 0 1
HPRT TORONTO 0 0 0 0 0 1 0 1
HPRT URANGAN 0 0 0 0 0 1 0 1
HPRT YALE 0 0 0 0 0 1 0 1
History of neurodevelopmental disorder 0 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 36 9 21 55 17 0 0 138
OMIM 54 0 0 0 0 23 0 54
GeneDx 8 3 7 11 8 0 0 37
Eurofins Ntd Llc (ga) 7 1 4 0 2 0 0 14
Fulgent Genetics, Fulgent Genetics 0 2 8 2 1 0 0 13
Ambry Genetics 0 2 3 2 1 0 0 8
PreventionGenetics, part of Exact Sciences 1 0 3 3 0 0 0 7
CeGaT Center for Human Genetics Tuebingen 1 0 3 3 0 0 0 7
Mendelics 2 2 1 1 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 1 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 1 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 1 0 2 0 0 0 3
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
3billion 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 0 1

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