ClinVar Miner

Variants studied for cardiovascular organ benign neoplasm

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 risk factor other total
42 21 16 0 3 2 3 86

Gene and significance breakdown #

Total genes and gene combinations: 49
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign risk factor other total
TP53 8 1 4 0 0 0 13
PIK3CA 5 2 2 0 0 0 9
​intergenic 2 3 1 0 0 0 6
ELMO2 3 1 1 1 0 0 5
KDR 1 0 0 1 1 0 3
KRAS 3 0 0 0 0 0 3
BRAF 2 0 0 0 0 0 2
IL17RD 0 1 1 0 0 0 2
KRIT1 1 1 0 0 0 0 2
PTPN14 2 0 0 0 0 0 2
ADGRV1 0 0 1 0 0 0 1
AKT3 0 1 0 0 0 0 1
ANTXR1 0 0 0 0 1 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 0 0 1
ARID1B 1 0 0 0 0 0 1
CACNA1H 0 0 1 0 0 0 1
CCM2 1 0 0 0 0 0 1
CDH2 0 1 0 0 0 0 1
CSMD3 0 0 0 1 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 1
EGFR 0 1 0 0 0 0 1
ENG 1 0 0 0 0 0 1
ENG, LOC102723566 1 0 0 0 0 0 1
EPHB4 0 1 0 0 0 0 1
FLT4 1 0 0 0 0 0 1
FOXO3 0 0 0 0 0 1 1
GLI2 0 0 1 0 0 0 1
GLMN 1 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 1
LEMD3 1 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 1
MAP4K4 0 1 0 0 0 0 1
MYH9 0 1 0 0 0 0 1
NF2 0 0 0 0 0 1 1
NOTCH1 0 0 1 0 0 0 1
NPC1 0 0 1 0 0 0 1
NRIP3-DT, SCUBE2 0 1 0 0 0 0 1
NSD1 0 0 0 0 0 1 1
PDCD10 0 1 0 0 0 0 1
PITPNM3 1 0 0 0 0 0 1
PKD1 0 1 0 0 0 0 1
PREX2 0 1 0 0 0 0 1
PTEN 1 0 0 0 0 0 1
SARS1 1 0 0 0 0 0 1
SRD5A3 0 0 1 0 0 0 1
SYN3, TIMP3 0 1 0 0 0 0 1
TSC1 1 0 0 0 0 0 1
VHL 1 0 0 0 0 0 1
ZFYVE16 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance benign risk factor other total
OMIM 15 0 0 0 2 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 4 3 1 0 0 15
Fulgent Genetics,Fulgent Genetics 7 1 6 0 0 0 14
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 8 0 0 0 0 12
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 3 1 0 0 0 6
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School 5 0 0 0 0 0 5
GeneReviews 4 0 0 0 0 0 4
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 1
Mendelics 0 0 1 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Kahle Lab,Yale University 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 1
Cancer medicine,Gaomi People's Hospital 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 0 0 1

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