ClinVar Miner

Variants studied for Cushing syndrome

Included ClinVar conditions (11):
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 total
27 6 16 0 0 47

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PDE11A 1 4 9 12
ARMC5 7 1 2 10
GNAS 6 0 2 8
USP8 5 0 0 5
AIP 1 0 2 3
PRKAR1A 3 0 0 3
PRKACA 2 0 0 2
DSC2 0 0 1 1
FAM20A, PRKAR1A 0 1 0 1
GNAI2 1 0 0 1
PDE8B 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 20 0 1 21
Institute of Human Genetics, Klinikum rechts der Isar 7 0 0 7
Baylor Genetics 0 0 5 5
Fulgent Genetics,Fulgent Genetics 2 1 2 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 2
GeneReviews 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 2
Mendelics 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 1

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