ClinVar Miner

Variants studied for Klippel-Feil syndrome

Included ClinVar conditions (10):
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
19 21 270 152 66 2 504

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GDF6 4 2 212 142 46 0 387
MYO18B 10 16 50 5 14 2 94
GDF3 1 1 6 5 6 0 16
MEOX1 3 1 0 0 0 0 3
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, USP5, ZNF705A 0 0 1 0 0 0 1
CFAP418, GDF6, MTERF3, NDUFAF6, PLEKHF2, PTDSS1, UQCRB 0 0 1 0 0 0 1
LRRK2 1 0 0 0 0 0 1
RIPPLY2, RIPPLY2-CYB5R4 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 164 136 30 0 330
Illumina Laboratory Services, Illumina 0 0 54 14 23 0 91
Revvity Omics, Revvity 1 6 30 2 0 0 39
Genome-Nilou Lab 0 0 0 0 14 0 14
OMIM 13 0 0 0 0 0 13
Baylor Genetics 1 3 7 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 3 4 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 1 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Codex Genetics Limited 2 0 0 0 0 0 2
3billion 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Weber Lab, Hannover Medical School 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 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.