ClinVar Miner

Variants studied for arteriovenous hemangioma/malformation

Included ClinVar conditions (9):
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 total
15 10 12 6 0 9 52

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign association total
KRAS 6 0 4 6 0 16
CLDN14 0 0 2 0 2 4
BRAF 2 0 0 0 0 2
EPHB4 0 0 0 0 2 2
IL17RD 0 1 1 0 0 2
KEL 0 0 0 0 2 2
ADGRV1 0 0 1 0 0 1
CACNA1H 0 0 1 0 0 1
CDH2 0 1 0 0 0 1
EGFR 0 1 0 0 0 1
ENG 1 0 0 0 0 1
EPHB4, LOC126860124 1 0 0 0 0 1
GLI2 0 0 1 0 0 1
GNA14 0 0 1 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
KAT6A 0 0 0 0 1 1
KMT2D 0 0 0 0 1 1
LEMD3 1 0 0 0 0 1
MAP4K4 0 1 0 0 0 1
NLRP3 1 0 0 0 0 1
NOTCH4 0 0 1 0 0 1
NRIP3-DT, SCUBE2 0 1 0 0 0 1
PDCD10 0 1 0 0 0 1
PIK3CA 0 1 0 0 0 1
PITPNM3 1 0 0 0 0 1
PREX2 0 1 0 0 0 1
SARS1 1 0 0 0 0 1
SMARCA2 0 0 0 0 1 1
SYN3, TIMP3 0 1 0 0 0 1
ZFYVE16 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign association total
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 8 0 0 0 12
Fulgent Genetics, Fulgent Genetics 1 0 3 6 0 10
Yale Center for Mendelian Genomics, Yale University 0 0 0 0 9 9
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School 5 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 0 0 3
OMIM 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 2
Mendelics 0 0 1 0 0 1
KK Women’s and Children’s Hospital 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 1
Institute of Tissue Medicine and Pathology, University of Bern 0 1 0 0 0 1

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