ClinVar Miner

Variants studied for cardiovascular organ benign neoplasm

Included ClinVar conditions (48):
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 other total
58 29 43 15 15 9 2 3 172

Gene and significance breakdown #

Total genes and gene combinations: 69
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other total
TP53 17 3 6 5 2 0 0 0 33
PTPN14 2 0 9 0 7 0 0 0 18
KRAS 5 1 4 6 0 0 0 0 16
ELMO2 5 2 1 2 3 0 0 0 12
KDR 1 1 3 1 1 0 1 0 7
​intergenic 2 3 1 0 0 0 0 0 6
CLDN14 0 0 2 0 0 2 0 0 4
GNA14 0 1 3 0 0 0 0 0 4
ANTXR1 0 0 0 1 1 0 1 0 3
EPHB4 0 1 0 0 0 2 0 0 3
BRAF 2 0 0 0 0 0 0 0 2
FAT4 0 0 2 0 0 0 0 0 2
FLT4 1 0 1 0 0 0 0 0 2
IL17RD 0 1 1 0 0 0 0 0 2
KEL 0 0 0 0 0 2 0 0 2
KRIT1 1 1 0 0 0 0 0 0 2
LEMD3 1 0 1 0 0 0 0 0 2
ADGRV1 0 0 1 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 0 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 0 0 0 0 1
ARID1B 1 0 0 0 0 0 0 0 1
CACNA1H 0 0 1 0 0 0 0 0 1
CCM2 1 0 0 0 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 0 0 1
CDH2 0 1 0 0 0 0 0 0 1
CFTR 1 0 0 0 0 0 0 0 1
CSMD3 0 0 0 0 1 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 0 1
EGFR 0 1 0 0 0 0 0 0 1
ENG 1 0 0 0 0 0 0 0 1
EPHB4, LOC126860124 1 0 0 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 0 1 1
GJA4 1 0 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 1
GLMN 1 0 0 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 0 0 1
KAT6A 0 0 0 0 0 1 0 0 1
KMT2D 0 0 0 0 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 1
LZTR1 1 0 0 0 0 0 0 0 1
MAP3K3 1 0 0 0 0 0 0 0 1
MAP4K4 0 1 0 0 0 0 0 0 1
MYH9 0 1 0 0 0 0 0 0 1
NF2 0 0 0 0 0 0 0 1 1
NLRP3 1 0 0 0 0 0 0 0 1
NOTCH1 0 0 1 0 0 0 0 0 1
NOTCH4 0 0 1 0 0 0 0 0 1
NPC1 0 0 1 0 0 0 0 0 1
NRAS 0 1 0 0 0 0 0 0 1
NRIP3-DT, SCUBE2 0 1 0 0 0 0 0 0 1
NSD1 0 0 0 0 0 0 0 1 1
PDCD10 0 1 0 0 0 0 0 0 1
PIEZO1 0 1 0 0 0 0 0 0 1
PITPNM3 1 0 0 0 0 0 0 0 1
PKD1 0 1 0 0 0 0 0 0 1
PREX2 0 1 0 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 0 1
RASA1 1 0 0 0 0 0 0 0 1
RNF213 0 1 0 0 0 0 0 0 1
SARS1 1 0 0 0 0 0 0 0 1
SMARCA2 0 0 0 0 0 1 0 0 1
SOS1 1 0 0 0 0 0 0 0 1
SRD5A3 0 0 1 0 0 0 0 0 1
SYN3, TIMP3 0 1 0 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 0 1
TSC1 1 0 0 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 0 1
ZFYVE16 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other total
Fulgent Genetics, Fulgent Genetics 14 2 9 12 2 0 0 0 39
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 4 3 0 1 0 0 0 14
OMIM 11 0 0 0 0 0 2 0 13
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 11 0 0 0 0 0 13
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 9 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 12
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 6 2 2 0 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 8 0 0 0 8
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 3 1 0 0 0 0 0 6
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School 5 0 0 0 0 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 0 0 3
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 0 3 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 0 2
3billion 2 0 0 0 0 0 0 0 2
Baylor Genetics 0 1 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 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 0 1
Mendelics 0 0 1 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 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 0 1
KK Women’s and Children’s Hospital 0 0 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Kahle Lab, Yale University 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 1 0 0 0 0 0 0 0 1
Cancer medicine, Gaomi People's Hospital 1 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 1
New York Genome Center 0 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 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 1
Keith Choate Laboratory, Yale University 1 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 1
James Bennett Lab, Seattle Childrens Research Institute 1 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 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 0 0 1

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