ClinVar Miner

Variants studied for chronic intestinal pseudoobstruction

Included ClinVar conditions (7):
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
14 4 29 17 4 1 66

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLNA 3 0 28 17 3 1 51
ACTG2 5 1 0 0 0 0 6
ERBB3 5 2 0 0 0 0 5
FLNA, LOC107988032 0 0 1 0 1 0 2
MYH11, NDE1 0 1 0 0 0 0 1
TFAP2B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 21 14 4 0 39
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 3 0 0 10
OMIM 4 0 0 0 0 0 4
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini 4 0 0 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 0 0 0 0 3
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Clinical Genetics Group, University of Otago 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 1 1
Clinical Genetics, Erasmus University Medical Center 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
Aleixo Muise Laboratory, Hospital For Sick Children 0 1 0 0 0 0 1

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