ClinVar Miner

Variants studied for brachydactyly

Included ClinVar conditions (33):
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
71 18 282 137 178 4 668

Gene and significance breakdown #

Total genes and gene combinations: 25
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BMPR1B 7 1 146 90 57 2 290
ROR2 10 3 86 39 65 1 198
IHH 10 7 29 4 26 0 74
GDF5 10 3 10 3 19 0 44
PDE3A 7 1 1 1 4 0 14
HOXD13 6 0 3 0 1 0 10
GDF5, LOC109461476 0 0 4 0 5 0 9
PTHLH 5 0 0 0 1 0 6
NOG 4 1 0 0 0 0 5
BMP2 1 0 1 0 0 0 2
PRMT7 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ALKBH5, ATPAF2, COPS3, DRC3, DRG2, FLCN, FLII, GID4, LLGL1, MED9, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TOM1L2, TOP3A 1 0 0 0 0 0 1
BPHL, DUSP22, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, LINC01600, MYLK4, NQO2, RIPK1, SERPINB1, SERPINB6, SERPINB9, TUBB2A, WRNIP1 1 0 0 0 0 0 1
CHST11 0 0 1 0 0 0 1
GNAS 1 0 0 0 0 0 1
IQCE 1 0 0 0 0 0 1
LOC124625920, PDE3A 0 0 1 0 0 0 1
LOC126862264, MEFV 1 0 0 0 0 0 1
NIPBL 0 1 0 0 0 0 1
PPP2R1A 1 0 0 0 0 0 1
SCAPER 1 0 0 0 0 0 1
SIM1 0 0 0 0 0 1 1
TRPS1 0 1 0 0 0 0 1
TULP1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 148 27 163 0 338
Invitae 1 1 83 81 14 0 180
Fulgent Genetics, Fulgent Genetics 2 2 48 30 2 0 84
OMIM 45 0 0 0 0 0 45
Genome-Nilou Lab 0 0 0 0 11 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 1 0 0 0 7
Wanghongyan lab, Fudan University 0 5 0 0 0 0 5
Baylor Genetics 3 0 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Revvity Omics, Revvity 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 0 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Nowon Eulji Medical Center, Nowon Eulji Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Federico II University of Naples 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 1
Dept of Molecular Biology and Genetics, Bogazici University 1 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Department of Hand Surgery, Beijing Jishuitan Hospital 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 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.