Variants studied for cardiovascular cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
60	159	98	5	2	1	1	4	318

Gene and significance breakdown #

Total genes and gene combinations: 47

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	established risk allele	risk factor	other	total
TP53	57	93	76	5	2	0	0	0	221
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
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: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	established risk allele	risk factor	other	total
Baylor Genetics	46	33	72	0	0	0	0	0	151
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
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University	0	19	0	0	0	0	0	0	19
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	1	0	0	0	0	0	4	5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	3	0	1	0	0	0	0	0	4
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
Genome-Nilou Lab	1	0	0	0	0	0	0	0	1
Suma Genomics, Suma Genomics	1	0	0	0	0	0	0	0	1

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