"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 844646	NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)	PIK3CA (M1V)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +3 more	GUncertain significance
Select item 983092	NM_006218.4(PIK3CA):c.461G>A (p.Arg154Lys)	PIK3CA (R154K)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GUncertain significance
Select item 13655	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	PIK3CA (E545K)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic OOncogenic
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GPathogenic OOncogenic
Select item 13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA (H1047R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 3359019	NM_006218.4(PIK3CA):c.316G>T (p.Gly106Cys)	PIK3CA (G106C)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GLikely pathogenic

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