ClinVar Miner

Variants in gene INSR

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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
45 5 198 86 91 393

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Leprechaunism syndrome 19 0 150 28 62 259
Insulin-resistant diabetes mellitus AND acanthosis nigricans 13 0 149 34 63 257
Pineal hyperplasia AND diabetes mellitus syndrome 8 0 148 28 63 247
not provided 1 3 36 47 29 106
not specified 0 2 17 12 26 56
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
Insulin resistance 3 0 0 0 0 3
Diabetes mellitus type 2 1 0 1 0 0 2
Hyperinsulinemic hypoglycemia familial 5 2 0 0 0 0 2
Epicanthus; Inguinal hernia; Hypotelorism; Kyphoscoliosis; Almond-shaped palpebral fissure; Anteverted nares; Clinodactyly of the 5th finger; Frontal bossing; Premature birth; Protruding ear; Short 5th finger; Short philtrum; Synophrys; Low anterior hairline; Pectus carinatum; Hypertrophic cardiomyopathy; Phimosis; Coarse hair; Bilateral single transverse palmar creases; Prominent eyelashes; Neonatal asphyxia 0 0 1 0 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: 23
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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 0 0 0 45 27 72
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 1 22 29
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 1 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
Division of Genomic Diagnostics,The 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
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
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

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