ClinVar Miner

Variants studied for congenital non-bullous ichthyosiform erythroderma

Included ClinVar conditions (8):
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
220 23 230 25 57 4 543

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALOX12B 122 10 69 4 8 0 204
ALOXE3 42 3 57 4 16 2 120
NIPAL4 28 0 54 8 14 0 103
PNPLA1 18 9 42 7 17 2 93
CERS3 3 1 1 0 0 0 5
ABCA12, SNHG31 0 0 2 1 1 0 4
CYP4F22 0 0 2 0 1 0 3
NIPAL4, NIPAL4-DT 0 0 2 1 0 0 3
SULT2B1 3 0 0 0 0 0 3
TGM1 3 0 0 0 0 0 3
ABCA12 0 0 1 0 0 0 1
ALOXE3, GUCY2D 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 3 1 213 25 57 0 299
Institute for Human Genetics,University Clinic Freiburg 179 0 0 0 0 0 179
OMIM 32 0 1 0 0 0 33
Uitto Lab,Thomas Jefferson University 10 10 3 0 0 0 23
Yale Center for Mendelian Genomics,Yale University 14 0 0 0 0 2 16
Baylor Genetics 2 0 7 0 0 0 9
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde,INSERM - Université Paul Sabatier 0 5 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 2 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Faculty of Health Sciences-Genetics Diagnosis Lab,Islamic University of Gaza 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1

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