ClinVar Miner

Variants studied for autosomal ichthyosis syndrome with other associated signs

Included ClinVar conditions (9):
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
59 6 462 80 151 1 736

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADAMTS17 5 0 226 30 89 0 348
DOLK 7 1 112 28 9 0 143
ABHD5 9 1 81 4 22 0 117
GJB2 23 3 31 15 28 0 93
ABHD5, ANO10 2 0 10 3 2 0 17
SLC27A4 8 1 0 0 0 1 10
AP1B1 5 0 0 0 0 0 5
DOLK, NUP188 0 0 2 0 1 0 3

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 380 53 143 0 575
Invitae 1 1 77 27 8 0 114
OMIM 36 0 0 0 0 0 36
Fulgent Genetics,Fulgent Genetics 15 2 3 0 0 0 20
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 10 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 5 0 0 0 7
Mendelics 1 1 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Cellular Biochemistry and Molecular Biology,Catholic University 1 0 0 0 0 0 1

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