ClinVar Miner

Variants studied for Non-syndromic X-linked intellectual disability

Coded as:
Minimum submission review status: Collection method:
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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
3 3 30 10 11 1 58

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRWD3 0 0 5 1 3 0 9
POF1B, ZNF711 0 0 0 4 4 0 8
ARHGEF6 0 0 3 4 0 0 7
ZNF81 0 0 5 0 0 0 5
IL1RAPL1 0 0 3 0 1 0 4
RAB39B 0 0 4 0 0 0 4
ZNF711 0 0 2 1 1 0 4
PAK3 0 0 2 0 1 0 3
ACSL4 0 0 2 0 0 0 2
HUWE1 1 0 1 0 0 0 2
PTCHD1 1 1 0 0 0 0 2
ZNF41 0 0 2 0 0 0 2
ZNF674 0 0 1 0 1 0 2
ATP6AP1, FAM50A, GDI1 0 1 0 0 0 0 1
MECP2 1 0 0 0 0 0 1
RLIM 0 1 0 0 0 0 1
TSPAN7 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 26 10 11 0 47
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
GenomeConnect - Simons Searchlight 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Department of Clinical Science, University of Bergen 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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