ClinVar Miner

Variants in gene ENPP1

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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 risk factor not provided total
52 26 317 194 157 3 6 677

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 15 14 191 165 105 0 0 471
Arterial calcification, generalized, of infancy, 1 26 6 115 21 64 0 4 229
Hypophosphatemic rickets, autosomal recessive, 2 7 0 95 18 60 0 2 179
ENPP1-related condition 1 3 8 14 5 0 0 31
Inborn genetic diseases 0 0 27 2 0 0 0 29
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome 1 1 15 8 1 0 0 26
not specified 0 0 3 5 14 0 0 21
Hypophosphatemic Rickets, Recessive 0 0 12 4 4 0 0 20
Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2 8 1 0 0 0 0 0 9
Hypopigmentation-punctate palmoplantar keratoderma syndrome 3 0 1 0 2 0 0 6
Type 2 diabetes mellitus 1 1 3 0 1 0 0 6
ENPP1-Related Disorders 2 0 2 0 0 0 0 4
Obesity 0 0 0 0 0 3 0 3
Coronary sclerosis, medial, of infancy 2 0 0 0 0 0 0 2
Diabetes mellitus type 2, susceptibility to 0 0 0 0 0 2 0 2
Hypophosphatemic rickets 0 2 0 0 0 0 0 2
Insulin resistance, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 13 5 169 135 36 0 0 358
Illumina Laboratory Services, Illumina 1 1 110 22 62 0 0 194
GeneDx 2 3 4 25 82 0 0 116
PreventionGenetics, part of Exact Sciences 1 3 8 14 5 0 0 31
Ambry Genetics 0 0 27 2 0 0 0 29
Fulgent Genetics, Fulgent Genetics 1 1 15 8 1 0 0 26
OMIM 19 0 0 0 1 3 0 23
Eurofins Ntd Llc (ga) 1 0 11 1 9 0 0 22
Genomenon, Inc 15 1 4 0 0 0 0 20
Revvity Omics, Revvity 0 5 4 0 0 0 0 9
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 6 0 0 0 0 0 0 6
Qiaoli Li laboratory, Thomas Jefferson University 0 0 5 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 2 0 0 0 4
GeneReviews 0 0 0 0 0 0 4 4
Genetic Services Laboratory, University of Chicago 0 0 1 1 1 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 2 0 0 3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 2 0 1 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 0 2
Mendelics 1 1 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 0 1
Institute for Cardiogenetics, University of Luebeck 1 0 0 0 0 0 0 1

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