ClinVar Miner

Variants studied for dermatitis

Included ClinVar conditions (34):
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 affects risk factor total
81 7 108 64 48 1 1 307

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor total
PLCG2 3 0 49 12 35 0 0 98
SERPING1 33 2 12 12 2 0 0 60
ATP2C1 9 0 21 14 4 0 0 48
F12, SLC34A1 4 0 5 22 7 0 0 38
UROD 15 0 11 4 0 0 0 30
FLG 5 0 3 0 0 0 0 7
KIT 4 0 0 0 0 0 0 4
FGFR3 0 2 0 0 0 0 0 2
HFE, LOC108783645 1 0 1 0 0 0 0 2
PRMT7 2 0 0 0 0 0 0 2
SPINK5 0 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 0 1
ADGRE2 1 0 0 0 0 0 0 1
FAM111B 0 1 0 0 0 0 0 1
G6PD 0 0 1 0 0 0 0 1
HAVCR1 0 0 0 0 0 1 0 1
IL21R 0 0 1 0 0 0 0 1
IL4R 0 0 1 0 0 0 0 1
KIF1B 0 0 1 0 0 0 0 1
MBTPS2 1 0 0 0 0 0 0 1
MEFV 0 0 1 0 0 0 0 1
PLG 1 0 0 0 0 0 0 1
STAT1 1 0 0 0 0 0 0 1
SYTL2 1 0 0 0 0 0 0 1
XPNPEP2 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 47 52 12 0 0 111
Invitae 0 0 46 12 35 0 0 93
OMIM 50 0 0 0 0 1 1 52
Department of Immunology and Histocompatibility,University of Thessaly 16 1 0 0 0 0 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 2 0 0 0 0 7
Fulgent Genetics 5 0 1 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 0 6
GeneReviews 3 0 0 0 0 0 0 3
Central Haematology Laboratory,Luzerner Kantonsspital 2 0 1 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
Nöthen Lab, Institute of Human Genetics,University Hospital Bonn 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 0 0 0 0 0 0 1

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