RS867262025 PIK3CA
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What This Variant Does
"CLNSIG=5
Associated Conditions
Inborn genetic diseases
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome
Diffuse pediatric-type high-grade glioma
H3-wildtype and IDH-wildtype
Dysembryoplastic neuroepithelial tumor
Neoplasm
Inborn genetic diseases
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome
Diffuse pediatric-type high-grade glioma
Other Variants in PIK3CA