ClinVar Miner

Variants studied for Syndromic intellectual disability

Coded as:
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 16 24 23 1 86

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KANSL1, MAPT 0 0 0 23 20 0 43
KANSL1 0 0 8 1 2 0 11
NSD2 1 1 1 0 0 0 3
ADARB1 0 0 2 0 0 0 2
KAT6A 2 0 0 0 0 0 2
KMT2C 0 0 1 0 1 0 2
MED16 2 0 0 0 0 0 2
ATP1A3, DEDD2, ERF, GRIK5, GSK3A, LNROP, LOC111811970, LOC125371523, LOC125371524, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, MIR4323, POU2F2, ZNF526, ZNF574 1 0 0 0 0 0 1
ATP1A3, DEDD2, GRIK5, GSK3A, LNROP, LOC111811970, LOC125371523, LOC125371524, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, MIR4323, POU2F2, ZNF526, ZNF574 1 0 0 0 0 0 1
BRD4 0 1 0 0 0 0 1
CCDC82 1 0 0 0 0 0 1
DDB1 0 0 1 0 0 0 1
DEDD2, ERF, GSK3A, LOC125371524, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, ZNF526 1 0 0 0 0 0 1
FHIP2A 0 1 0 0 0 0 1
HDAC4 0 0 1 0 0 0 1
IRAK1BP1, PHIP 0 1 0 0 0 0 1
KIF1A 1 0 0 0 0 0 1
KIF21B 0 0 1 0 0 0 1
MEIS2 0 1 0 0 0 0 1
MTSS2 0 1 0 0 0 0 1
MYT1L 0 0 0 0 0 1 1
NAA15 0 0 1 0 0 0 1
PTH2R 0 1 0 0 0 0 1
RAI1 0 1 0 0 0 0 1
SYT1 1 0 0 0 0 0 1
TAF6 1 0 0 0 0 0 1
TRIO 1 0 0 0 0 0 1
WDFY3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 8 24 22 0 55
Molecular Genetics, Royal Melbourne Hospital 0 2 4 0 1 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 0 3
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Hunan Provincial Maternal and Child Health Care Hospital 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1

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