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
26 9 136 44 78 3 2 265

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Arterial calcification, generalized, of infancy, 1 16 4 111 21 66 0 0 213
Hypophosphatemic rickets, autosomal recessive, 2 5 0 96 18 59 0 2 178
not provided 3 4 24 21 17 0 0 65
Hypophosphatemic Rickets, Recessive 0 0 12 4 4 0 0 20
not specified 0 0 1 3 10 0 0 13
Cole disease 3 0 1 0 0 0 0 4
Obesity 0 0 0 0 0 3 0 3
Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2 1 1 0 0 0 0 0 2
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
ENPP1-Related Disorders 0 0 2 0 0 0 0 2
Insulin resistance, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 1 1 111 22 62 0 0 194
Invitae 2 2 14 21 17 0 0 56
OMIM 19 0 0 0 1 3 0 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 11 1 9 0 0 22
Institute of Human Genetics, Klinikum rechts der Isar 6 0 0 0 0 0 0 6
Baylor Genetics 2 0 3 0 0 0 0 5
GeneReviews 1 0 0 0 3 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
GeneDx 0 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 0 1

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