ClinVar Miner

Variants studied for blood vessel neoplasm

Included ClinVar conditions (50):
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
90 163 95 15 8 9 1 3 4 380

Gene and significance breakdown #

Total genes and gene combinations: 99
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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
KRAS 6 3 4 6 0 0 0 0 0 19
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
KDR 1 1 3 1 1 0 0 1 0 7
​intergenic 2 3 1 0 0 0 0 0 0 6
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 0 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
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
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
SMARCA2 0 0 1 0 0 1 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
CHEK2 0 0 1 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
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
KMT2A 0 0 1 0 0 0 0 0 0 1
LEMD3 1 0 0 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 0 1
LOC126861339, SDHD 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
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
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
VHL 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: 43
Download table as spreadsheet
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 14 2 9 12 2 0 0 0 0 39
Genome Sciences Centre, British Columbia Cancer Agency 3 7 22 0 0 0 0 0 0 32
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 4 4 0 1 0 0 0 0 14
OMIM 10 0 0 0 0 0 0 3 0 13
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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 2 2 0 0 0 0 0 0 9
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 6 0 0 0 0 0 0 8
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 0 0 4 5
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 2 1 0 0 0 0 0 0 5
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School 5 0 0 0 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 1 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
Genome-Nilou Lab 1 0 0 0 1 0 0 0 0 2
3billion 2 0 0 0 0 0 0 0 0 2
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
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 0 0 0 1

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