ClinVar Miner

Variants studied for cardiovascular cancer

Included ClinVar conditions (12):
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 established risk allele risk factor other total
55 138 68 5 2 1 1 4 268

Gene and significance breakdown #

Total genes and gene combinations: 48
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele risk factor other total
TP53 52 72 45 5 2 0 0 0 170
PIK3CA 0 14 1 0 0 0 0 0 15
CTNNB1, LOC126806658 0 11 0 0 0 0 0 0 11
FBXW7 0 5 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 5
NRAS 0 5 0 0 0 0 0 0 5
CREBBP 0 4 0 0 0 0 0 0 4
BCOR 0 3 0 0 0 0 0 0 3
BRAF 0 3 0 0 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 3
HRAS, LRRC56 0 3 0 0 0 0 0 0 3
KRAS 1 2 0 0 0 0 0 0 3
SF3B1 0 3 0 0 0 0 0 0 3
ATRX 0 0 2 0 0 0 0 0 2
BAP1 0 0 2 0 0 0 0 0 2
NOTCH1 0 2 0 0 0 0 0 0 2
​intergenic 0 1 0 0 0 0 0 0 1
ALK 0 0 1 0 0 0 0 0 1
ARID1B 0 0 1 0 0 0 0 0 1
ARID2 0 1 0 0 0 0 0 0 1
ATM 0 0 1 0 0 0 0 0 1
BPTF 0 0 0 0 0 1 0 0 1
CDKN2C, FAF1 0 0 1 0 0 0 0 0 1
CHEK2 0 0 1 0 0 0 0 0 1
CTNNB1 0 0 1 0 0 0 0 0 1
EIF1AX 0 0 1 0 0 0 0 0 1
FGFR2 0 0 1 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 0 1 1
FUS, TFCP2 0 0 1 0 0 0 0 0 1
H3-3A 0 1 0 0 0 0 0 0 1
IL6, LOC126859963 0 0 0 0 0 0 1 0 1
INSL6, JAK2 0 0 1 0 0 0 0 0 1
JAK3 0 0 1 0 0 0 0 0 1
KMT2A 0 0 1 0 0 0 0 0 1
MECOM 0 0 1 0 0 0 0 0 1
MED12 0 0 0 0 0 0 0 1 1
MLH1 0 0 1 0 0 0 0 0 1
MSH6 0 0 1 0 0 0 0 0 1
MYB, NFIB 1 0 0 0 0 0 0 0 1
MYBL1, NFIB 1 0 0 0 0 0 0 0 1
NF2 0 0 0 0 0 0 0 1 1
NSD1 0 0 0 0 0 0 0 1 1
RAD52 0 0 1 0 0 0 0 0 1
SMARCA2 0 0 1 0 0 0 0 0 1
SMARCA4 0 0 1 0 0 0 0 0 1
SMARCB1 0 0 1 0 0 0 0 0 1
STAT3 0 0 1 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele risk factor other total
Baylor Genetics 43 28 41 0 0 0 0 0 112
Database of Curated Mutations (DoCM) 0 102 0 0 0 0 0 0 102
Genome Sciences Centre, British Columbia Cancer Agency 3 6 21 0 0 0 0 0 30
Fulgent Genetics, Fulgent Genetics 13 2 6 5 2 0 0 0 28
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 0 4 5
OMIM 2 0 0 0 0 0 1 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 0 0 0 0 0 1 0 0 1
Michigan Center for Translational Pathology, University of Michigan 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
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.