ClinVar Miner

Variants studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
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
299 134 1130 328 321 1 4 2115

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ADAMTS17 5 0 227 30 89 0 0 349
SPINK5 37 7 198 59 55 0 1 340
SUMF1 38 27 73 66 30 0 0 212
DOLK 6 1 151 52 9 0 0 203
ALDH3A2 30 59 69 11 14 0 1 168
SNAP29 3 2 99 10 35 0 0 147
PEX7 24 8 63 51 9 0 0 144
ABHD5 10 2 81 4 22 0 0 119
GJB2 23 3 31 15 28 0 0 93
VPS33B 13 2 40 8 14 1 0 78
PHYH 3 4 33 10 7 0 0 53
PSAT1 5 0 13 9 4 0 0 31
ERCC2 9 3 13 0 0 0 0 25
GBA, LOC106627981 20 1 4 0 0 0 1 25
ABHD5, ANO10 2 0 10 3 2 0 0 17
PHGDH 8 3 8 0 0 0 0 17
VIPAS39 9 2 4 0 0 0 0 15
MPLKIP 9 0 2 0 0 0 0 11
SLC27A4 8 3 0 0 0 0 1 11
ERCC3 4 0 3 0 0 0 0 7
GTF2H5 5 1 1 0 0 0 0 7
ST14 4 1 0 0 2 0 0 7
ELOVL4 4 1 1 0 0 0 0 6
AP1B1 5 0 0 0 0 0 0 5
RNF113A 3 0 3 0 0 0 0 5
AP1S1 2 2 0 0 0 0 0 4
DOLK, NUP188 0 0 2 0 1 0 0 3
TARS1 3 0 0 0 0 0 0 3
CLDN1, CLDN16 2 0 0 0 0 0 0 2
GBA 1 0 1 0 0 0 0 2
GTF2E2 2 0 0 0 0 0 0 2
CLDN1 1 0 0 0 0 0 0 1
GGT2, SNAP29 0 1 0 0 0 0 0 1
KRT14 0 1 0 0 0 0 0 1
SUMF2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Illumina Clinical Services Laboratory,Illumina 4 2 740 102 285 0 0 1132
Invitae 73 29 311 217 53 0 0 683
OMIM 145 0 0 0 0 0 0 145
Counsyl 4 51 11 2 0 0 0 68
Baylor Genetics 19 4 42 0 0 0 0 65
Natera, Inc. 9 2 14 12 9 0 0 46
Fulgent Genetics,Fulgent Genetics 28 2 11 1 0 0 0 42
Integrated Genetics/Laboratory Corporation of America 17 5 0 0 0 0 0 22
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 3 6 7 0 0 0 0 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 4 3 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 10 0 0 0 0 12
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 7 2 0 0 11
Myriad Women's Health, Inc. 1 8 0 0 0 0 0 9
Mendelics 4 1 0 0 3 0 0 8
GeneReviews 8 0 0 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 3 0 0 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
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 0 0 4
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 2 0 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 2 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 1 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 1 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Mayo Clinic 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
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
Children's Hospital DNA Laboratory,University Medical Center Goettingen 1 0 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 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 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Biomedical Innovation Departament, CIEMAT 1 0 0 0 0 0 0 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Laboratory of Cellular Biochemistry and Molecular Biology,Catholic University 1 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 0 1

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