ClinVar Miner

Variants in gene INSR

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
46 5 205 87 91 401

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Leprechaunism syndrome 19 0 151 28 62 260
Insulin-resistant diabetes mellitus AND acanthosis nigricans 13 0 151 34 63 259
Pineal hyperplasia AND diabetes mellitus syndrome 8 0 149 28 63 248
not provided 2 3 40 48 27 109
not specified 0 1 18 12 19 49
none provided 0 1 0 1 13 15
Monogenic diabetes 0 0 5 4 2 11
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinemic hypoglycemia familial 5; Leprechaunism syndrome; Pineal hyperplasia AND diabetes mellitus syndrome 0 0 4 0 0 4
Hyperinsulinemic hypoglycemia familial 5 2 0 1 0 0 3
Insulin resistance 3 0 0 0 0 3
Type 2 diabetes mellitus 1 0 1 0 0 2
Bailey-Bloch congenital myopathy 0 0 0 1 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 1
INSR-related disorder 0 0 1 0 0 1
Insulin-resistant diabetes mellitus 1 0 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 150 28 63 240
Invitae 1 0 1 45 27 74
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 29 3 8 41
OMIM 33 0 1 0 0 34
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 4 2 23 31
Genetic Services Laboratory, University of Chicago 2 0 13 10 3 28
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 5 4 2 11
Mendelics 0 0 1 7 1 9
GeneDx 0 3 3 0 0 6
Medical Research Institute,Tokyo Medical and Dental University 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 2 0 4
Baylor Genetics 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 2
GeneReviews 2 0 0 0 0 2
Laboratory of Molecular Biology and Genetics,St Antoine Hospital - APHP 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
The Translational Medicine Center of Children Development and Disease,Fudan University 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 1

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