vabase

Complex lymphatic anomaly (CLA)

Entities in this branch 5

Variants 22

Pathway
Entity

GeneVariantPathwayISSVA entityReports
ARAF S214P c.640T>C RAS-MAPK 1
BRAF V600E c.1799T>A RAS-MAPK 4
CBL Y774* c.2322T>G RAS-MAPK 1
HRAS A59_Q61delinsGGSIL c.176_182delinsGAGGATCCATACT RAS-MAPK 1
HRAS E63_S65delinsDIPP c.189_195delinsCATCCCGCCG RAS-MAPK 1
HRAS M72_R73insHSAMRDQYM c.191_217dup RAS-MAPK 1
KRAS A146T c.436G>A RAS-MAPK 1
KRAS G12D c.35G>A RAS-MAPK 2
KRAS G12V c.35G>T RAS-MAPK 2
KRAS G13D c.38G>A RAS-MAPK 1
KRAS Q61R c.182A>G RAS-MAPK 1
KRAS Q70_Y71ins15 c.167_211dup RAS-MAPK 1
MAP2K1 F53C c.158T>G RAS-MAPK 1
NRAS Q61K c.181C>A RAS-MAPK 1
NRAS Q61R c.182A>G RAS-MAPK 3
PIK3CA E542K c.1624G>A PI3K-AKT 2
PIK3CA E545K c.1633G>A PI3K-AKT 2
PIK3CA H1047L c.3140A>T PI3K-AKT 3
PIK3CA H1047R c.3140A>G PI3K-AKT 4
PIK3CA M1043I c.3129G>A PI3K-AKT 1
PIK3CA Q546K c.1636C>A PI3K-AKT 2
PIK3CA R88Q c.263G>A PI3K-AKT 2