vabase

Kaposiform lymphangiomatosis (KLA)

Variants 9

Pathway
Entity

GeneVariantPathwayISSVA entityReports
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
KRAS G12D c.35G>A RAS-MAPK 2
NRAS Q61K c.181C>A RAS-MAPK 1
NRAS Q61R c.182A>G RAS-MAPK 3
PIK3CA E545K c.1633G>A PI3K-AKT 2
PIK3CA H1047R c.3140A>G PI3K-AKT 4