ClinVar Miner

Variants studied for vascular neoplasm

Included ClinVar conditions (60):
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 established risk allele risk factor other total
103 99 145 15 15 9 1 3 4 385

Gene and significance breakdown #

Total genes and gene combinations: 81
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor other total
TP53 58 60 86 5 2 0 0 0 0 204
KRAS 6 1 13 6 0 0 0 0 0 26
PTPN14 2 0 15 0 7 0 0 0 0 24
ELMO2 5 3 0 2 3 0 0 0 0 12
KDR 1 1 4 1 1 0 0 1 0 8
​intergenic 2 4 1 0 0 0 0 0 0 7
FLT4 1 1 3 0 0 0 0 0 0 5
CLDN14 0 0 2 0 0 2 0 0 0 4
GNA14 0 1 3 0 0 0 0 0 0 4
ANTXR1 0 0 0 1 1 0 0 1 0 3
EPHB4 0 1 0 0 0 2 0 0 0 3
HIF1A 0 3 0 0 0 0 0 0 0 3
PIK3CA 1 2 0 0 0 0 0 0 0 3
BRAF 2 0 0 0 0 0 0 0 0 2
CDKN2A 0 0 2 0 0 0 0 0 0 2
COL11A2 0 1 1 0 0 0 0 0 0 2
FAT4 0 0 2 0 0 0 0 0 0 2
IDH1 1 0 1 0 0 0 0 0 0 2
IL17RD 0 1 1 0 0 0 0 0 0 2
KEL 0 0 0 0 0 2 0 0 0 2
KRIT1 1 1 0 0 0 0 0 0 0 2
LEMD3 1 0 1 0 0 0 0 0 0 2
LOC107303340, VHL 1 1 0 0 0 0 0 0 0 2
VHL 1 1 0 0 0 0 0 0 0 2
ADGRV1 0 0 1 0 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 0 0 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 0 0 0 0 0 1
BPTF 0 0 0 0 0 0 1 0 0 1
CACNA1H 0 0 1 0 0 0 0 0 0 1
CCM2 1 0 0 0 0 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 0 0 0 1
CDH2 0 1 0 0 0 0 0 0 0 1
CFTR 1 0 0 0 0 0 0 0 0 1
CHEK2 0 0 1 0 0 0 0 0 0 1
COL2A1 0 1 0 0 0 0 0 0 0 1
CSMD3 0 0 0 0 1 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 0 0 1
EGFR 0 1 0 0 0 0 0 0 0 1
ENG 1 0 0 0 0 0 0 0 0 1
EPHB4, LOC126860124 1 0 0 0 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 0 0 1 1
GJA4 1 0 0 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 0 1
GLMN 1 0 0 0 0 0 0 0 0 1
GNA11 1 0 0 0 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 0 0 0 1
IL6, LOC126859963 0 0 0 0 0 0 0 1 0 1
KAT6A 0 0 0 0 0 1 0 0 0 1
KDM4C 0 0 1 0 0 0 0 0 0 1
KMT2D 0 0 0 0 0 1 0 0 0 1
LYST 0 1 0 0 0 0 0 0 0 1
LZTR1 1 0 0 0 0 0 0 0 0 1
MAP3K3 1 0 0 0 0 0 0 0 0 1
MAP4K4 0 1 0 0 0 0 0 0 0 1
MED12 0 0 0 0 0 0 0 0 1 1
MYB, NFIB 1 0 0 0 0 0 0 0 0 1
MYBL1, NFIB 1 0 0 0 0 0 0 0 0 1
MYH9 0 1 0 0 0 0 0 0 0 1
NF2 0 0 0 0 0 0 0 0 1 1
NLRP3 1 0 0 0 0 0 0 0 0 1
NOTCH4 0 0 1 0 0 0 0 0 0 1
NPC1 0 0 1 0 0 0 0 0 0 1
NRAS 0 1 0 0 0 0 0 0 0 1
NRIP3-DT, SCUBE2 0 1 0 0 0 0 0 0 0 1
NSD1 0 0 0 0 0 0 0 0 1 1
PDCD10 0 1 0 0 0 0 0 0 0 1
PIEZO1 0 1 0 0 0 0 0 0 0 1
PITPNM3 1 0 0 0 0 0 0 0 0 1
PKD1 0 1 0 0 0 0 0 0 0 1
PREX2 0 1 0 0 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 0 0 1
RASA1 1 0 0 0 0 0 0 0 0 1
RNF213 0 1 0 0 0 0 0 0 0 1
SARS1 1 0 0 0 0 0 0 0 0 1
SMARCA2 0 0 0 0 0 1 0 0 0 1
SOS1 1 0 0 0 0 0 0 0 0 1
SRD5A3 0 0 1 0 0 0 0 0 0 1
SYN3, TIMP3 0 1 0 0 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 0 0 1
ZFYVE16 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor other total
Baylor Genetics 46 34 72 0 0 0 0 0 0 152
Fulgent Genetics, Fulgent Genetics 16 9 33 12 2 0 0 0 0 72
Clinical Genomics Laboratory, Washington University in St. Louis 3 1 19 0 0 0 0 0 0 23
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 19 0 0 0 0 0 0 0 19
OMIM 12 0 0 0 0 0 0 3 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 4 4 0 1 0 0 0 0 14
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 9 0 0 0 12
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 8 0 0 0 0 0 0 0 12
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 6 2 2 0 0 0 0 0 0 10
Genome-Nilou Lab 1 0 0 0 8 0 0 0 0 9
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 5 3 0 0 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 1 1 0 0 0 0 0 0 7
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 3 1 0 0 0 0 0 0 6
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 0 0 4 5
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School 5 0 0 0 0 0 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 1 0 0 0 0 3
Genome Sciences Centre, British Columbia Cancer Agency 2 0 0 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 1 1 0 0 0 0 0 0 2
3billion, Medical Genetics 2 0 0 0 0 0 0 0 0 2
Institute of Tissue Medicine and Pathology, University of Bern 0 2 0 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 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 0 1
KK Women’s and Children’s Hospital 0 0 1 0 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 0 0 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 0 1
Kahle Lab, Yale University 0 1 0 0 0 0 0 0 0 1
Genomics For Life 1 0 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 1 0 0 0 0 0 0 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 0 0 0 0 0 1
Keith Choate Laboratory, Yale University 1 0 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 0 1
James Bennett Lab, Seattle Childrens Research Institute 1 0 0 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 0 0 0 1

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