RS587776932 PIK3CA
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What This Variant Does
"CLNSIG=255
Associated Conditions
Megalencephaly-capillary malformation-polymicrogyria syndrome
Abnormal cardiovascular system morphology
Cowden syndrome 5
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Cowden syndrome
Angioosteohypertrophic syndrome
Abnormal cerebral morphology
PIK3CA related overgrowth syndrome
CLOVES syndrome
PIK3CA-related disorder
Inborn genetic diseases
PIK3C1-related disorder
Megalencephaly-capillary malformation-polymicrogyria syndrome
Abnormal cardiovascular system morphology
Cowden syndrome 5
Other Variants in PIK3CA