C1865285[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 526641	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	PIK3CA (V146I)	Single nucleotide variant (missense variant)	not provided +14 more	GUncertain significance
Select item 376050	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	PIK3CA (N345K)	Single nucleotide variant (missense variant)	not provided +14 more	GPathogenic
Select item 403909	NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)	PIK3CA (P377R)	Single nucleotide variant (missense variant)	Cowden syndrome +14 more	GUncertain significance
Select item 526637	NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)	PIK3CA (K884R)	Single nucleotide variant (missense variant)	Cowden syndrome +16 more	GUncertain significance
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	CLOVES syndrome +17 more	GPathogenic
Select item 39808	NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	PIK3R2 (G373R)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database

ClinVar