ClinVar Miner

Variants studied for cardiovascular 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
100 171 118 21 21 9 1 3 4 438

Gene and significance breakdown #

Total genes and gene combinations: 111
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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 52 72 45 5 2 0 0 0 0 170
PRKAR1A 2 1 9 6 6 0 0 0 0 23
KRAS 6 3 4 6 0 0 0 0 0 19
PTPN14 2 0 9 0 7 0 0 0 0 18
PIK3CA 0 14 1 0 0 0 0 0 0 15
ELMO2 5 2 1 2 3 0 0 0 0 12
CTNNB1, LOC126806658 0 11 0 0 0 0 0 0 0 11
​intergenic 2 4 1 0 0 0 0 0 0 7
KDR 1 1 3 1 1 0 0 1 0 7
NRAS 0 6 0 0 0 0 0 0 0 6
BRAF 2 3 0 0 0 0 0 0 0 5
FBXW7 0 5 0 0 0 0 0 0 0 5
IDH1 1 5 0 0 0 0 0 0 0 5
CLDN14 0 0 2 0 0 2 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 4
GNA14 0 1 3 0 0 0 0 0 0 4
HRAS, LRRC56 1 3 0 0 0 0 0 0 0 4
ANTXR1 0 0 0 1 1 0 0 1 0 3
BCOR 0 3 0 0 0 0 0 0 0 3
EPHB4 0 1 0 0 0 2 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 0 3
HIF1A 0 3 0 0 0 0 0 0 0 3
NOTCH1 0 2 1 0 0 0 0 0 0 3
SF3B1 0 3 0 0 0 0 0 0 0 3
ARID1B 1 0 1 0 0 0 0 0 0 2
ATRX 0 0 2 0 0 0 0 0 0 2
BAP1 0 0 2 0 0 0 0 0 0 2
CDKN2A 0 0 2 0 0 0 0 0 0 2
FAT4 0 0 2 0 0 0 0 0 0 2
FLT4 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
KMT2D 0 1 0 0 0 1 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
SMARCA2 0 0 1 0 0 1 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
ALK 0 0 1 0 0 0 0 0 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 0 0 0 0 0 1
ARID2 0 1 0 0 0 0 0 0 0 1
ATM 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
CDKN2C, FAF1 0 0 1 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
CTNNB1 0 0 1 0 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 0 0 0 1
DHFR, MSH3 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
EIF1AX 0 0 1 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
FGFR2 0 0 1 0 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 0 0 1 1
FUS, TFCP2 0 0 1 0 0 0 0 0 0 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
H3-3A 0 1 0 0 0 0 0 0 0 1
IL6, LOC126859963 0 0 0 0 0 0 0 1 0 1
INSL6, JAK2 0 0 1 0 0 0 0 0 0 1
JAK3 0 0 1 0 0 0 0 0 0 1
KAT6A 0 0 0 0 0 1 0 0 0 1
KDM4C 0 0 1 0 0 0 0 0 0 1
KMT2A 0 0 1 0 0 0 0 0 0 1
LOC126861339, SDHD 1 0 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
MECOM 0 0 1 0 0 0 0 0 0 1
MED12 0 0 0 0 0 0 0 0 1 1
MLH1 0 0 1 0 0 0 0 0 0 1
MSH6 0 0 1 0 0 0 0 0 0 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
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
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
RAD52 0 0 1 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
SMARCA4 0 0 1 0 0 0 0 0 0 1
SMARCB1 0 0 1 0 0 0 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
STAT3 0 0 1 0 0 0 0 0 0 1
STK11 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
TSC1 1 0 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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor other total
Baylor Genetics 43 29 41 0 0 0 0 0 0 113
Database of Curated Mutations (DoCM) 0 102 0 0 0 0 0 0 0 102
Fulgent Genetics, Fulgent Genetics 15 3 18 16 2 0 0 0 0 54
Genome Sciences Centre, British Columbia Cancer Agency 3 7 22 0 0 0 0 0 0 32
OMIM 13 0 0 0 0 0 0 3 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 4 4 0 1 0 0 0 0 15
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 11 0 0 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
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 4 7 0 0 0 0 11
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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 0 0 2
3billion 2 0 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
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
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 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 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 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
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 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
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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