ClinVar Miner

Variants studied for skin vascular disease

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 risk factor not provided total
319 144 805 352 152 5 1 21 1758

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
ATRIP, ATRIP-TREX1, TREX1 44 20 305 134 11 0 0 0 500
ATR 2 3 205 150 41 0 0 0 393
SERPING1 207 75 34 14 43 0 0 0 366
ADA2 21 18 91 16 0 0 0 0 143
PLG 3 4 111 8 9 0 0 1 135
SAMHD1 8 14 14 6 12 0 0 0 52
F12 4 1 16 10 19 0 0 0 47
SAMHD1, TLDC2 0 0 11 0 9 0 0 0 20
F12, SLC34A1 0 0 0 10 5 0 0 0 13
ATR, LOC126806830 0 0 5 3 0 0 0 0 8
KNG1 2 0 1 0 0 0 0 2 5
GNAQ 4 1 0 0 0 0 0 0 4
NOD2 4 0 0 0 0 0 0 0 4
ANGPT1 1 0 2 0 0 0 0 0 3
ATR, LOC129937703 0 0 2 1 0 0 0 0 3
HIF1A 0 3 0 0 0 0 0 0 3
IL18R1 0 0 0 0 0 3 0 0 3
MEFV 3 0 0 0 0 0 0 0 3
MYOF 1 1 0 0 1 0 0 0 3
PIK3CA 3 0 0 0 0 0 0 0 3
PSTPIP1 3 0 0 0 0 0 0 0 3
TNFRSF1A 3 0 0 0 0 0 0 0 3
ACE 0 0 0 0 0 0 0 2 2
CDK6 0 0 0 0 0 2 0 0 2
CDKN2A 0 0 2 0 0 0 0 0 2
GLMN 1 0 1 0 0 0 0 0 2
HS3ST6 1 0 1 0 0 0 0 0 2
IDH1 1 0 1 0 0 0 0 0 2
KLK3 0 0 0 0 0 0 0 2 2
SERPINA1 0 0 0 0 0 0 0 2 2
TEK 1 1 0 0 0 0 0 0 2
XPNPEP2 0 0 1 0 0 0 1 0 2
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, CAMKV, CCDC71, CDHR4, CELSR3, CIMIP7, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6 1 0 0 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
COL2A1 0 1 0 0 0 0 0 0 1
CPN1 0 0 0 0 0 0 0 1 1
DPP4 0 0 0 0 0 0 0 1 1
ELANE 0 0 0 0 0 0 0 1 1
GNA11 1 0 0 0 0 0 0 0 1
KDM4C 0 0 1 0 0 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
LOC107303340, VHL 0 1 0 0 0 0 0 0 1
LOC126859861, PLG 0 0 0 0 1 0 0 0 1
LOC130065805, SAMHD1 0 0 0 0 1 0 0 0 1
NOTCH3 0 0 0 0 0 0 0 1 1
PLAT 0 0 0 0 0 0 0 1 1
PROC 0 0 0 0 0 0 0 1 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
VHL 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 5 305 132 11 0 0 0 496
Fulgent Genetics, Fulgent Genetics 27 51 265 32 3 0 0 0 378
Genome-Nilou Lab 0 0 168 142 51 0 0 0 361
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 127 52 3 1 0 0 0 0 183
Illumina Laboratory Services, Illumina 0 0 54 31 54 0 0 0 137
CeMIA 1 1 3 6 36 0 0 20 67
OMIM 34 0 0 0 0 0 1 0 35
Peking Union Medical College Hospital 24 10 1 0 0 0 0 0 35
Department of Immunology and Histocompatibility, University of Thessaly 28 3 1 0 0 0 0 0 32
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 11 20 0 0 0 31
Department of Immunology, Hospital Universitario Virgen del Rocio 17 0 0 0 0 0 0 0 17
Division of Rheumatology, Allergy and Immunology, UCSD 7 1 2 0 0 0 0 0 10
Baylor Genetics 5 1 2 0 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 2 1 1 0 0 0 8
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 5 3 0 0 0 0 0 8
Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, The First Affiliated Hospital of Chongqing Medical University 0 0 0 0 0 5 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 1 0 0 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 0 2 2 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 1 0 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 1 0 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2 0 0 0 0 0 4
Central Haematology Laboratory, Luzerner Kantonsspital 2 0 1 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 0 0 3
Institute of Neurology, Charite University of Medicine 0 1 0 2 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 0 2
Nöthen Lab, Institute of Human Genetics, University Hospital Bonn 2 0 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
Laboratory of Molecular Genetics, Shanghai Jiao Tong University School of Medicine and Shanghai Institutes for Biological Sciences 1 0 1 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 2 0 0 0 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 0 1
Bioserve Biotechnologies India Pvt Ltd 0 1 0 0 0 0 0 0 1
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 0 1
GenomeConnect - CureCADASIL 0 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 0 0 0 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 1
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
School of Medicine and Health Sciences, Universidad del Rosario 0 1 0 0 0 0 0 0 1

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