ClinVar Miner

Variants studied for autosomal ichthyosis syndrome

Included ClinVar conditions (38):
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 association not provided total
218 77 531 162 140 1 5 1084

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ADAMTS17 5 0 135 31 41 0 0 211
SPINK5 21 2 74 29 44 0 1 149
ALDH3A2 25 47 39 9 3 0 1 115
SNAP29 3 0 59 17 10 0 0 89
SUMF1 24 7 35 9 11 0 0 81
ABHD5 7 0 52 16 2 0 0 77
DOLK 6 1 48 15 7 0 0 77
GJB2 22 3 11 21 11 0 0 67
PEX7 13 5 29 2 3 0 0 49
PHYH 1 4 28 8 5 0 0 40
GBA, LOC106627981 17 0 0 0 0 0 1 17
ABHD5, ANO10 2 0 9 3 0 0 0 14
VPS33B 11 1 1 0 0 1 0 14
ERCC2 8 2 1 0 0 0 1 11
PSAT1 5 0 3 2 1 0 0 11
VIPAS39 8 1 1 0 0 0 0 10
PHGDH 6 1 3 0 0 0 0 9
MPLKIP 7 0 1 0 0 0 0 8
SLC27A4 7 0 0 0 0 0 1 8
ELOVL4 4 1 1 0 0 0 0 6
ST14 4 0 0 0 2 0 0 6
CLDN1 3 0 0 0 0 0 0 3
GTF2H5 2 1 0 0 0 0 0 3
ERCC3 1 0 1 0 0 0 0 2
GTF2E2 2 0 0 0 0 0 0 2
AP1S1 1 0 0 0 0 0 0 1
GBA 1 0 0 0 0 0 0 1
GGT2, SNAP29 0 1 0 0 0 0 0 1
RNF113A 1 0 0 0 0 0 0 1
SUMF2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Illumina Clinical Services Laboratory,Illumina 3 2 399 126 105 0 0 634
Invitae 25 8 100 25 32 0 0 190
OMIM 131 0 0 0 0 0 0 131
Counsyl 5 51 11 2 0 0 0 69
Fulgent Genetics,Fulgent Genetics 28 2 11 1 0 0 0 42
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 17 0 0 20
Genomic Research Center,Shahid Beheshti University of Medical Sciences 4 4 7 0 0 0 0 15
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 7 2 0 0 11
Integrated Genetics/Laboratory Corporation of America 10 0 0 0 0 0 0 10
GeneReviews 8 0 0 0 0 0 0 8
Baylor Genetics 4 0 1 0 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 3 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Rizzo Lab,University of Nebraska Medical Center 5 0 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 1 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 2 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Molecular Metabolic laboratory,Sheba Medical Center Tel-Hashomer 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 0 1
Research Center for Immunodeficiencies,Tehran University of Medical Sciences 0 0 0 0 0 1 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 0 1
Children's Hospital DNA Laboratory,University Medical Center Goettingen 1 0 0 0 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 0 1

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