ClinVar Miner

Variants studied for X-linked intellectual disability with marfanoid habitus

Included ClinVar conditions (6):
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
13 9 78 74 42 3 216

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
UPF3B 10 6 51 66 35 0 165
MED12 3 3 25 8 7 2 48
LOC126863275, MED12 0 0 1 0 0 1 2
AKAP14, ATP1B4, C1GALT1C1, CUL4B, LAMP2, MCTS1, NDUFA1, NKAP, NKRF, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPTIN6, SOWAHD, TMEM255A, UBE2A, UPF3B, ZBTB33 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 0 47 65 34 0 148
Fulgent Genetics, Fulgent Genetics 1 0 7 7 1 0 16
Genome-Nilou Lab 0 0 0 0 7 0 7
Revvity Omics, Revvity 2 2 2 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 3 3 0 0 0 6
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 2 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 0 2 0 0 0 2
3billion 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1

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