ClinVar Miner

Variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets

Coded as:
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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
244 90 87 26 18 445

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PHEX 156 55 59 21 11 290
PHEX, PTCHD1 81 34 28 5 7 147
LOC130068043, PHEX, PTCHD1 4 0 0 0 0 4
CBLL2, PHEX, PTCHD1 2 0 0 0 0 2
CBLL2, LOC126863223, LOC126863224, LOC126863225, LOC126863226, PHEX, PTCHD1 1 0 0 0 0 1
CLCN5 0 1 0 0 0 1
LOC125446275, LOC130068038, LOC130068039, LOC130068040, LOC130068041, LOC130068042, MBTPS2, PHEX, SMPX, SMS, YY2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 109 1 1 0 0 111
Mendelics 85 21 1 0 0 107
Fulgent Genetics, Fulgent Genetics 6 8 47 18 1 80
Illumina Laboratory Services, Illumina 2 0 19 8 17 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 16 0 0 0 34
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 10 2 0 0 19
OMIM 12 0 0 0 0 12
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 10 1 0 0 0 11
3billion, Medical Genetics 5 3 2 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 6 4 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 2 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 0 0 0 5
MVZ Medizinische Genetik Mainz 3 0 2 0 0 5
Revvity Omics, Revvity 1 0 3 0 0 4
Baylor Genetics 2 1 0 0 0 3
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 2 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 3
MNM Diagnostics 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 0 1 0 1
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús 0 1 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 1
Genos 1 0 0 0 0 1

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