ClinVar for MedGen (Select 442876) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065356	NM_006218.4(PIK3CA):c.813+2T>C	PIK3CA	Single nucleotide variant (splice donor variant)	CLOVES syndrome	GLikely pathogenic
Select item 1676211	NM_181523.3(PIK3R1):c.1732_1738delinsTGTAAGAAAG (p.Asp578_Tyr580delinsCysLysLysAsp)	PIK3R1	Indel (inframe_indel)	CLOVES syndrome	GLikely pathogenic
Select item 996076	NM_181523.3(PIK3R1):c.1735_1740del (p.Gln579_Tyr580del)	PIK3R1	Deletion (inframe_deletion)	Vascular Malformations and Overgrowth +1 more	GPathogenic/Likely pathogenic
Select item 996075	NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu)	PIK3R1 (K204E +3 more)	Single nucleotide variant (missense variant)	CLOVES syndrome	GLikely pathogenic
Select item 995382	NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)	PIK3CA (E110del)	Microsatellite (inframe_deletion)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely pathogenic FDA Recognized database
Select item 917489	NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)	PIK3CA (C378R)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic
Select item 548668	NM_002067.5(GNA11):c.547C>T (p.Arg183Cys)	GNA11 (R183C)	Single nucleotide variant (missense variant)	Capillary malformation +3 more	GPathogenic
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 526637	NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)	PIK3CA (K884R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +16 more	GUncertain significance
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 376479	NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	PIK3CA (G106V)	Single nucleotide variant (missense variant)	CLOVES syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376478	NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	PIK3CA (E81K)	Single nucleotide variant (missense variant)	CLOVES syndrome +3 more	GPathogenic
Select item 376470	NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	PIK3CA (E453K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
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 45467	NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)	PIK3CA (T1025A)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +2 more	GPathogenic/Likely pathogenic
Select item 45464	NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	PIK3CA (E418K)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome +3 more	GConflicting classifications of pathogenicity OLikely oncogenic
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome +17 more	GPathogenic
Select item 31945	NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	PIK3CA (C420R)	Single nucleotide variant (missense variant)	Ovarian neoplasm +7 more	GPathogenic OOncogenic
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 +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 13655	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	PIK3CA (E545K)	Single nucleotide variant (missense variant)	CLOVES syndrome +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Stroke disorder +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

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Items: 22