ClinVar Miner

Variants studied for craniostenosis associated with a strabismus

Included ClinVar conditions (25):
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 risk factor not provided total
104 19 85 76 32 2 2 308

Gene and significance breakdown #

Total genes and gene combinations: 11
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
FGFR2 46 10 23 30 12 0 0 116
FGFR1 4 3 38 41 13 0 0 92
TWIST1 21 5 13 2 3 0 0 44
ERF 6 1 2 3 4 0 0 16
TCF12 13 0 1 0 0 0 1 15
FGFR3 7 0 4 0 0 0 1 12
FREM1 2 0 3 0 0 0 0 5
ZIC1 4 0 0 0 0 0 0 4
ALX4 0 0 0 0 0 2 0 2
KAT6B 0 0 1 0 0 0 0 1
TCOF1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 53 66 16 0 0 135
Invitae 20 7 21 10 15 0 0 73
OMIM 59 0 0 0 0 2 0 61
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 29 7 1 0 0 0 0 37
Fulgent Genetics,Fulgent Genetics 13 2 7 0 0 0 0 22
Baylor Genetics 5 0 1 0 0 0 0 6
GeneReviews 4 0 0 0 0 0 0 4
UF de Génétique Moléculaire,Hôpital Lariboisière 4 0 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 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.