ClinVar Miner

Variants in gene ABCC8

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 not provided total
82 123 155 64 27 2 385

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Persistent hyperinsulinemic hypoglycemia of infancy 36 103 69 2 4 0 202
Permanent neonatal diabetes mellitus 17 2 26 38 11 0 94
not specified 0 0 38 33 24 0 76
Hyperinsulinism, Dominant/Recessive 0 0 26 38 11 0 75
Transient Neonatal Diabetes, Dominant 0 0 26 38 11 0 75
not provided 29 3 26 2 13 1 74
Familial hyperinsulinism 14 7 1 0 0 0 22
Neonatal diabetes mellitus 0 10 4 1 0 1 16
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Persistent hyperinsulinemic hypoglycemia of infancy; Leucine-induced hypoglycemia; Diabetes mellitus type 2 2 3 3 0 0 0 8
Monogenic diabetes 0 0 7 0 0 0 7
Diabetes mellitus type 2 2 0 1 1 0 0 4
Transient neonatal diabetes mellitus 2 4 0 0 0 0 0 4
Atrial septal defect; Short stature; Feeding difficulties; Hypoglycemia; Growth delay; Congestive heart failure; Macrotia; Macrocephalus; Small for gestational age; Cardiac shunt; Gastroesophageal reflux; Neonatal respiratory distress 0 2 0 0 0 0 2
ABCC8-related disorder 0 0 1 0 0 0 1
Diabetes mellitus 0 0 1 0 0 0 1
Diabetes mellitus, permanent neonatal, with neurologic features 1 0 0 0 0 0 1
Leucine-induced hypoglycemia 1 0 0 0 0 0 1
Retrognathia; Polyhydramnios; Hypoglycemia; Bilateral cryptorchidism; Pointed chin; Broad forehead; Triangular face; Long philtrum; Generalized hypotonia; Neonatal hypotonia; Large for gestational age; Large fleshy ears 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 9 93 63 2 0 0 167
Genetic Services Laboratory, University of Chicago 23 10 26 26 1 0 86
Illumina Clinical Services Laboratory,Illumina 2 0 30 38 11 0 81
Athena Diagnostics Inc 17 3 25 4 18 0 67
Integrated Genetics/Laboratory Corporation of America 14 15 8 1 3 1 42
OMIM 27 0 0 0 0 0 27
PreventionGenetics 0 0 0 4 23 0 27
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 7 0 7 0 17
GeneReviews 13 0 0 0 0 0 13
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 10 0 0 0 0 0 10
Fulgent Genetics 2 3 3 0 0 0 8
GeneDx 2 0 5 0 0 0 7
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 7 0 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 0 0 0 3
MVZ Dortmund,Dr. Eberhard & Partner 0 0 1 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Scientific Bio-Minds 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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