ClinVar Miner

Variants studied for Walker-Warburg syndrome

Included ClinVar conditions (30):
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
127 134 562 160 112 1 1066

Gene and significance breakdown #

Total genes and gene combinations: 17
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FKTN 6 21 120 20 11 0 169
FKRP 17 4 65 25 12 0 123
POMT1 17 8 51 18 21 0 113
POMT2 16 4 54 11 14 1 99
POMGNT1, TSPAN1 7 67 23 2 0 0 94
DAG1 3 1 47 19 9 0 79
LARGE1 5 1 49 16 2 0 73
POMGNT2 4 0 41 14 10 0 69
CRPPA 21 5 25 6 12 0 68
B3GALNT2 11 8 25 10 4 0 51
RXYLT1 9 5 21 5 7 0 44
POMK 6 0 17 11 6 0 39
B4GAT1 2 1 20 2 4 0 28
POMGNT1 0 8 2 1 0 0 11
B3GALNT2, TBCE 1 1 2 0 0 0 4
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 1
FKTN, FSD1L 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 44 19 411 136 105 0 715
Illumina Clinical Services Laboratory,Illumina 0 0 102 21 2 0 125
Counsyl 7 67 29 3 0 0 106
OMIM 62 0 1 0 0 0 63
Fulgent Genetics 5 4 33 0 0 0 42
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 36 0 0 0 0 37
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 3 0 0 1 0 18
Athena Diagnostics Inc 0 0 0 0 10 0 10
Baylor Miraca Genetics Laboratories, 3 0 4 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 2 3 0 0 0 0 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 2 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 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.