ClinVar Miner

Variants studied for dermatitis

Included ClinVar conditions (46):
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 not provided total
97 24 278 81 111 1 1 20 604

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
PLCG2 3 0 151 45 53 0 0 0 249
SERPING1 46 8 24 9 14 0 0 0 100
ATP2C1 9 0 44 5 21 0 0 0 79
F12, SLC34A1 4 0 13 17 21 0 0 0 53
UROD 17 1 25 5 1 0 0 0 47
FLG 5 0 3 0 0 0 0 0 7
KIT 4 0 0 0 0 0 0 0 4
ACE 0 0 0 0 0 0 0 2 2
CYP4F22 0 0 2 0 0 0 0 0 2
FGFR3 0 2 0 0 0 0 0 0 2
HFE 1 0 1 0 0 0 0 0 2
IL4R 0 0 2 0 0 0 0 0 2
KLK3 0 0 0 0 0 0 0 2 2
KNG1 0 0 0 0 0 0 0 2 2
PLG 1 0 0 0 0 0 0 1 2
PRMT7 2 0 0 0 0 0 0 0 2
SERPINA1 0 0 0 0 0 0 0 2 2
SPINK5 0 2 0 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 0 0 1
ADGRE2 1 0 0 0 0 0 0 0 1
ANK2 0 0 1 0 0 0 0 0 1
AUTS2 0 0 1 0 0 0 0 0 1
BDKRB2 0 0 0 0 0 0 0 1 1
C1S 0 0 0 0 0 0 0 1 1
CARD14 0 0 1 0 0 0 0 0 1
CCDC8 0 1 0 0 0 0 0 0 1
CHD7 0 0 1 0 0 0 0 0 1
COL9A3 0 1 0 0 0 0 0 0 1
CPN1 0 0 0 0 0 0 0 1 1
DARS2 1 0 0 0 0 0 0 0 1
DPP4 0 0 0 0 0 0 0 1 1
ELANE 0 0 0 0 0 0 0 1 1
FAM111B 0 1 0 0 0 0 0 0 1
FOXL2 0 1 0 0 0 0 0 0 1
G6PD 0 0 1 0 0 0 0 0 1
HAVCR1 0 0 0 0 0 1 0 0 1
IL21R 0 0 1 0 0 0 0 0 1
KCNJ11 0 1 0 0 0 0 0 0 1
KIF1B 0 0 1 0 0 0 0 0 1
KLHL41 0 0 0 0 1 0 0 0 1
KRT1 0 0 0 0 0 0 0 1 1
LOC106694315, MPO 0 0 0 0 0 0 0 1 1
LRRK2 0 0 1 0 0 0 0 0 1
MBTPS2 1 0 0 0 0 0 0 0 1
MEFV 0 0 1 0 0 0 0 0 1
MLC1 0 1 0 0 0 0 0 0 1
MPDU1 0 1 0 0 0 0 0 0 1
NSMF 0 0 1 0 0 0 0 0 1
PLAT 0 0 0 0 0 0 0 1 1
PPARG 0 1 0 0 0 0 0 0 1
PPP1R3A 0 0 1 0 0 0 0 0 1
PROC 0 0 0 0 0 0 0 1 1
RECQL4 0 1 0 0 0 0 0 0 1
SLC7A9 0 1 0 0 0 0 0 0 1
STAT1 1 0 0 0 0 0 0 0 1
SYTL2 0 0 1 0 0 0 0 0 1
TLR2 0 0 0 0 0 0 0 1 1
TLR4 0 0 0 0 0 0 0 1 1
TTC7A 0 1 0 0 0 0 0 0 1
TTC8 1 0 0 0 0 0 0 0 1
XPNPEP2 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Invitae 0 0 147 45 53 0 0 0 245
Illumina Clinical Services Laboratory,Illumina 0 0 100 36 56 0 0 0 190
OMIM 50 0 0 0 0 1 1 0 52
Department of Immunology and Histocompatibility, University of Thessaly 28 3 1 0 0 0 0 0 32
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 12 11 0 1 0 0 0 29
CeMIA 0 0 0 0 0 0 0 20 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 0 0 8
Fulgent Genetics,Fulgent Genetics 5 0 1 0 0 0 0 0 6
Institute of Human Genetics,University of Wuerzburg 0 2 2 0 0 0 0 0 4
GeneReviews 3 0 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 0 0 3
Central Haematology Laboratory,Luzerner Kantonsspital 2 0 1 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 0 0 2
Mendelics 1 0 1 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 0 2
Nöthen Lab, Institute of Human Genetics,University Hospital Bonn 2 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 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 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 0 1
Division of Rheumatology, Allergy and Immunology, UCSD 0 1 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 0 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 0 1
ATS GeneTech Pvt Ltd 0 1 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 0 1

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