ClinVar Miner

Variants studied for AP4-related intellectual disability and spastic paraplegia

Included ClinVar conditions (5):
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
29 14 92 37 21 185

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AP4B1 12 4 50 14 10 88
AP4M1 10 6 33 22 7 73
AP4E1 3 1 4 0 3 11
AP4S1 3 3 3 0 0 8
AP4B1, DCLRE1B 0 0 2 1 1 4
AP4E1, SPPL2A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 2 72 36 16 132
Baylor Genetics 1 1 13 0 0 15
OMIM 14 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 3 2 1 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 3 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 0 0 0 3
Mendelics 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 2
Nilou-Genome Lab 0 0 0 0 2 2
Paris Brain Institute,Inserm - ICM 2 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1

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