ClinVar Miner

Variants in gene FUZ

See also:
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 association risk factor total
1 2 35 12 8 1 3 56

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
not specified 0 0 26 0 0 0 0 26
not provided 0 0 6 7 7 0 0 19
FUZ-related disorder 0 0 1 4 1 0 0 6
Neural tube defects, susceptibility to 0 0 1 0 0 0 3 4
Neural tube defect 0 0 0 1 0 1 0 2
Jeune thoracic dystrophy 0 1 1 0 0 0 0 1
Short-rib thoracic dysplasia 6 with or without polydactyly 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
Ambry Genetics 0 0 24 0 0 0 0 24
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 6 7 0 0 13
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 5 0 0 7
PreventionGenetics, part of Exact Sciences 0 0 1 4 1 0 0 6
Gharavi Laboratory, Columbia University 0 0 4 0 0 0 0 4
OMIM 0 0 0 0 0 0 3 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 0 0 2
Dan Cohn Lab, University Of California Los Angeles 1 0 1 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 0 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.