"PIK3CA-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456538	NM_006218.4(PIK3CA):c.225A>G (p.Gln75=)	PIK3CA	Single nucleotide variant (synonymous variant)	PIK3CA-related disorder +3 more	GLikely benign
Select item 1198826	NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)	PIK3CA (R93W)	Single nucleotide variant (missense variant)	PIK3CA-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 220946	NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome 5 +5 more	GBenign/Likely benign
Select item 403905	NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu)	PIK3CA (P159L)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
Select item 3061242	NM_006218.4(PIK3CA):c.592G>A (p.Val198Ile)	PIK3CA (V198I)	Single nucleotide variant (missense variant)	PIK3CA-related disorder	GUncertain significance
Select item 2195555	NM_006218.4(PIK3CA):c.747G>A (p.Lys249=)	PIK3CA	Single nucleotide variant (synonymous variant)	PIK3CA-related disorder +1 more	GLikely benign
Select item 836035	NM_006218.4(PIK3CA):c.998C>T (p.Ala333Val)	PIK3CA (A333V)	Single nucleotide variant (missense variant)	PIK3CA-related disorder +2 more	GUncertain significance
Select item 456527	NM_006218.4(PIK3CA):c.1029C>T (p.Tyr343=)	PIK3CA	Single nucleotide variant (synonymous variant)	PIK3CA-related disorder +3 more	GLikely benign
Select item 246680	NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +4 more	GLikely benign
Select item 698098	NM_006218.4(PIK3CA):c.1060-9T>C	PIK3CA	Single nucleotide variant (intron variant)	PIK3CA-related disorder +2 more	GLikely benign
Select item 419222	NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)	PIK3CA (E365K)	Single nucleotide variant (missense variant)	Angioosteohypertrophic syndrome +4 more	GPathogenic
Select item 697093	NM_006218.4(PIK3CA):c.1104T>C (p.Cys368=)	PIK3CA	Single nucleotide variant (synonymous variant)	PIK3CA-related disorder +2 more	GLikely benign
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 39704	NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	PIK3CA (C378Y)	Single nucleotide variant (missense variant)	Cowden syndrome +3 more	GPathogenic
Select item 45464	NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	PIK3CA (E418K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3029825	NM_006218.4(PIK3CA):c.1256A>G (p.His419Arg)	PIK3CA (H419R)	Single nucleotide variant (missense variant)	PIK3CA-related disorder	GUncertain significance
Select item 31944	NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	PIK3CA (E542K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 3031392	NM_006218.4(PIK3CA):c.1997T>G (p.Phe666Cys)	PIK3CA (F666C)	Single nucleotide variant (missense variant)	PIK3CA-related disorder	GUncertain significance
Select item 456539	NM_006218.4(PIK3CA):c.2439A>G (p.Thr813=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1400179	NM_006218.4(PIK3CA):c.2445A>G (p.Gln815=)	PIK3CA	Single nucleotide variant (synonymous variant)	PIK3CA-related disorder +2 more	GLikely benign
Select item 1009802	NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=)	PIK3CA	Single nucleotide variant (synonymous variant)	PIK3CA-related disorder +2 more	GLikely benign
Select item 2574252	NM_006218.4(PIK3CA):c.2924G>A (p.Arg975Lys)	PIK3CA (R975K)	Single nucleotide variant (missense variant)	PIK3CA-related disorder +1 more	GUncertain significance
Select item 2630970	NM_006218.4(PIK3CA):c.3050A>T (p.Asp1017Val)	PIK3CA (D1017V)	Single nucleotide variant (missense variant)	PIK3CA-related disorder	GUncertain significance
Select item 2633421	NM_006218.4(PIK3CA):c.3074C>A (p.Thr1025Asn)	PIK3CA (T1025N)	Single nucleotide variant (missense variant)	PIK3CA-related disorder	GLikely pathogenic
Select item 3044076	NM_006218.4(PIK3CA):c.*27A>G	PIK3CA	Single nucleotide variant (3 prime UTR variant)	PIK3CA-related disorder	GLikely benign
Select item 246606	NM_006218.4(PIK3CA):c.*29T>C	PIK3CA	Single nucleotide variant (3 prime UTR variant)	Cowden syndrome +2 more	GBenign/Likely benign

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Items: 26