ClinVar Miner

Variants studied for Menkes kinky-hair syndrome

Coded as:
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Gene type:
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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
77 15 3 1 0 96

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ATP7A 77 15 3 0 95
ATP7A, PGAM4 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Genetic Services Laboratory, University of Chicago 71 14 0 0 85
OMIM 6 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 3
Baylor Miraca Genetics Laboratories, 1 0 0 0 1
Mendelics 1 0 0 0 1
Section on Translational Neuroscience,Molecular Medicine Program; NICHD; National Institutes of Health 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 1

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