RS121913273 PIK3CA
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What This Variant Does
"CLNSIG=5
Associated Conditions
CLOVES syndrome
Ovarian neoplasm
Non-small cell lung carcinoma
CLAPO syndrome
Lip and oral cavity carcinoma
Cerebrofacial Vascular Metameric Syndrome (CVMS)
CEREBRAL CAVERNOUS MALFORMATIONS 4
SOMATIC
Abnormal cardiovascular system morphology
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
PIK3CA-related overgrowth
PIK3CA related overgrowth syndrome
PIK3CA-related disorder
Rare venous malformation
Cowden syndrome
Other Variants in PIK3CA