ClinVar Miner

Variants studied for hemangioma

Included ClinVar conditions (36):
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 risk factor total
35 26 26 10 6 9 2 112

Gene and significance breakdown #

Total genes and gene combinations: 59
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
KRAS 5 1 4 6 0 0 0 16
ELMO2 5 3 0 2 3 0 0 12
KDR 1 1 4 1 1 0 1 8
​intergenic 2 2 1 0 0 0 0 5
CLDN14 0 0 2 0 0 2 0 4
GNA14 0 1 3 0 0 0 0 4
ANTXR1 0 0 0 1 1 0 1 3
EPHB4 0 1 0 0 0 2 0 3
BRAF 2 0 0 0 0 0 0 2
FAT4 0 0 2 0 0 0 0 2
FLT4 1 0 1 0 0 0 0 2
IL17RD 0 1 1 0 0 0 0 2
KEL 0 0 0 0 0 2 0 2
KRIT1 1 1 0 0 0 0 0 2
ADGRV1 0 0 1 0 0 0 0 1
AKT3 0 1 0 0 0 0 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 0 0 0 1
ARID1B 1 0 0 0 0 0 0 1
CACNA1H 0 0 1 0 0 0 0 1
CCM2 1 0 0 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 0 1
CDH2 0 1 0 0 0 0 0 1
CSMD3 0 0 0 0 1 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 1
EGFR 0 1 0 0 0 0 0 1
ENG 1 0 0 0 0 0 0 1
EPHB4, LOC126860124 1 0 0 0 0 0 0 1
GJA4 1 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 1
GLMN 1 0 0 0 0 0 0 1
GNA11 1 0 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 0 1
KAT6A 0 0 0 0 0 1 0 1
KMT2D 0 0 0 0 0 1 0 1
LEMD3 1 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 1
MAP3K3 1 0 0 0 0 0 0 1
MAP4K4 0 1 0 0 0 0 0 1
MYH9 0 1 0 0 0 0 0 1
NLRP3 1 0 0 0 0 0 0 1
NOTCH1 0 0 1 0 0 0 0 1
NOTCH4 0 0 1 0 0 0 0 1
NPC1 0 0 1 0 0 0 0 1
NRAS 0 1 0 0 0 0 0 1
NRIP3-DT, SCUBE2 0 1 0 0 0 0 0 1
PDCD10 0 1 0 0 0 0 0 1
PIK3CA 0 1 0 0 0 0 0 1
PITPNM3 1 0 0 0 0 0 0 1
PKD1 0 1 0 0 0 0 0 1
PREX2 0 1 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 1
RNF213 0 1 0 0 0 0 0 1
SARS1 1 0 0 0 0 0 0 1
SMARCA2 0 0 0 0 0 1 0 1
SRD5A3 0 0 1 0 0 0 0 1
SYN3, TIMP3 0 1 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 1
ZFYVE16 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 4 3 0 1 0 0 13
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 9 0 12
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 8 0 0 0 0 0 12
Fulgent Genetics, Fulgent Genetics 1 0 3 7 0 0 0 11
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 7 0 0 0 0 10
OMIM 7 0 0 0 0 0 2 9
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 2 2 0 0 0 0 9
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 2 1 0 0 0 0 5
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School 5 0 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 1 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
3billion 2 0 0 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
KK Women’s and Children’s Hospital 0 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Kahle Lab, Yale University 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 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 1
Keith Choate Laboratory, Yale University 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 0 1
Institute of Tissue Medicine and Pathology, University of Bern 0 1 0 0 0 0 0 1

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