ClinVar Miner

Variants studied for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Included ClinVar conditions (1):
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 total
37 45 35 0 9 124

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PHIP 18 26 19 3 65
IRAK1BP1, PHIP 18 18 16 6 57
LOC129996745, PHIP 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance benign total
Wendy Chung Laboratory, Columbia University Medical Center 13 21 0 0 34
Revvity Omics, Revvity 1 2 13 0 16
Genome-Nilou Lab 0 0 0 9 9
Baylor Genetics 1 2 5 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 2 4 0 8
OMIM 7 0 0 0 7
New York Genome Center 0 0 5 0 5
MGZ Medical Genetics Center 2 2 0 0 4
Mendelics 2 2 0 0 4
3billion 0 3 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 3
Undiagnosed Diseases Network, NIH 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 2
DASA 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1

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