ClinVar Miner

Variants studied for cardiovascular neoplasm

Included ClinVar conditions (57):
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 not provided total
118 112 467 243 52 4 4 1 971

Gene and significance breakdown #

Total genes and gene combinations: 71
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
GATA2 25 9 378 146 30 0 0 0 579
MPL 35 9 43 91 14 1 0 0 178
TP53 9 40 4 0 0 0 0 0 52
THPO 6 1 25 6 5 0 0 0 42
CTNNB1 0 11 0 0 0 0 0 0 11
PIK3CA 5 6 2 0 0 0 0 0 10
​intergenic 2 3 1 0 0 0 0 0 6
BRAF 2 3 0 0 0 0 0 0 5
ELMO2 3 1 1 0 1 0 0 0 5
INSL6, JAK2 2 0 2 0 0 0 0 1 5
KRAS 3 2 0 0 0 0 0 0 5
NRAS 0 5 0 0 0 0 0 0 5
GNAS 0 3 0 0 0 0 0 0 3
KDR 1 0 0 0 1 1 0 0 3
CALR 2 0 0 0 0 0 0 0 2
IL17RD 0 1 1 0 0 0 0 0 2
KRIT1 1 1 0 0 0 0 0 0 2
PTPN14 2 0 0 0 0 0 0 0 2
SH2B3 1 0 1 0 0 0 0 0 2
ACAD9, GATA2, LINC01565, RAB7A, RPN1 1 0 0 0 0 0 0 0 1
ADGRV1 0 0 1 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 0 0 1
ANTXR1 0 0 0 0 0 1 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
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 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
CDH2 0 1 0 0 0 0 0 0 1
CHEK2 0 0 1 0 0 0 0 0 1
CSMD3 0 0 0 0 1 0 0 0 1
CUX2, SH2B3 1 0 0 0 0 0 0 0 1
DHFR, MSH3 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
ENG, LOC102723566 1 0 0 0 0 0 0 0 1
EPHB4 0 1 0 0 0 0 0 0 1
FAM20A, PRKAR1A 0 1 0 0 0 0 0 0 1
FLT4 1 0 0 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 1 0 1
GLI2 0 0 1 0 0 0 0 0 1
GLMN 1 0 0 0 0 0 0 0 1
GNA14 0 1 0 0 0 0 0 0 1
H3-3A 0 1 0 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 0 0 1
IL6 0 0 0 0 0 1 0 0 1
KMT2D 0 1 0 0 0 0 0 0 1
LEMD3 1 0 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 1
MAP4K4 0 1 0 0 0 0 0 0 1
MED12 0 0 0 0 0 0 1 0 1
MYH9 0 1 0 0 0 0 0 0 1
NF2 0 0 0 0 0 0 1 0 1
NOTCH1 0 0 1 0 0 0 0 0 1
NPC1 0 0 1 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 1 0 1
PDCD10 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
PRKAR1A 1 0 0 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 0 1
SARS1 1 0 0 0 0 0 0 0 1
SDHD 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
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: 42
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 53 12 352 204 29 0 0 0 650
Illumina Clinical Services Laboratory,Illumina 0 0 90 41 29 0 0 0 160
Database of Curated Mutations (DoCM) 0 68 0 0 0 0 0 0 68
OMIM 30 0 0 0 0 4 0 0 34
Fulgent Genetics,Fulgent Genetics 9 2 13 0 0 0 0 0 24
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 4 5 0 1 0 0 0 17
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 8 0 0 0 0 0 0 12
Baylor Genetics 3 1 4 0 0 0 0 0 8
Mendelics 1 3 2 1 0 0 0 0 7
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 3 1 0 0 0 0 0 6
GeneReviews 5 0 0 0 0 0 0 0 5
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 0 4 0 5
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School 5 0 0 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 0 2
Genome Sciences Centre,British Columbia Cancer Agency 0 1 1 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
INSERM UMR 1170,INSERM 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 1
Kahle Lab,Yale University 0 1 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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
Johns Hopkins Genomics, Johns Hopkins University 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
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 1
Nilou-Genome Lab 1 0 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 1

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