ClinVar for MedGen (Select 355421) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 1805974	NM_006218.4(PIK3CA):c.2137A>G (p.Ile713Val)	PIK3CA (I713V)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GUncertain significance
Select item 1804027	NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)	PIK3CA (D725N)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GLikely pathogenic
Select item 1804026	NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu)	PIK3CA (P449L)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GPathogenic
Select item 1339248	NM_006218.4(PIK3CA):c.2716G>C (p.Val906Leu)	PIK3CA (V906L)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GUncertain significance
Select item 1333708	NM_006218.4(PIK3CA):c.3127A>C (p.Met1043Leu)	PIK3CA (M1043L)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GLikely pathogenic
Select item 1333250	NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)	PIK3CA (P449T)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GPathogenic/Likely pathogenic
Select item 1172583	NM_006218.4(PIK3CA):c.3104C>T (p.Ala1035Val)	PIK3CA (A1035V)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome	GPathogenic
Select item 1172582	NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)	PIK3CA (R115P)	Single nucleotide variant (missense variant)	PIK3CA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1098323	NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly)	PIK3CA (D939G)	Single nucleotide variant (missense variant)	Segmental undergrowth associated with mainly venous malformation with capillary component +2 more	GPathogenic/Likely pathogenic
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 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 864863	NM_006218.4(PIK3CA):c.1345C>T (p.Pro449Ser)	PIK3CA (P449S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 809567	NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg)	PIK3CA (G364R)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome +2 more	GPathogenic/Likely pathogenic
Select item 526641	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	PIK3CA (V146I)	Single nucleotide variant (missense variant)	Familial cancer of breast +14 more	GUncertain significance
Select item 526637	NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)	PIK3CA (K884R)	Single nucleotide variant (missense variant)	not specified +16 more	GUncertain significance
Select item 419222	NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)	PIK3CA (E365K)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +4 more	GPathogenic
Select item 418658	NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn)	PIK3CA (D350N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 376489	NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)	PIK3CA (N345T)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic
Select item 376478	NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	PIK3CA (E81K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 376476	NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	PIK3CA (E726K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376470	NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	PIK3CA (E453K)	Single nucleotide variant (missense variant)	PIK3CA-related disorder +5 more	GPathogenic
Select item 376247	NM_006218.4(PIK3CA):c.3145G>A (p.Gly1049Ser)	PIK3CA (G1049S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 376243	NM_006218.4(PIK3CA):c.1616C>G (p.Pro539Arg)	PIK3CA (P539R)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GLikely pathogenic
Select item 376050	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	PIK3CA (N345K)	Single nucleotide variant (missense variant)	Congenital macrodactylia +14 more	GPathogenic
Select item 376049	NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	PIK3CA (R88Q)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +5 more	GPathogenic OOncogenic
Select item 280875	NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)	PIK3CA (R108H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 280609	NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)	RIT1 (R122L +2 more)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +3 more	GPathogenic/Likely pathogenic
Select item 218236	NM_006218.4(PIK3CA):c.335T>A (p.Ile112Asn)	PIK3CA (I112N)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome	GPathogenic
Select item 217293	NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	PIK3CA (E545D)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic/Likely pathogenic
Select item 179173	NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	PIK3CA (M1043I)	Single nucleotide variant (missense variant)	Cowden syndrome +3 more	GPathogenic/Likely pathogenic
Select item 39815	NM_005465.7(AKT3):c.686A>G (p.Asn229Ser)	AKT3 (N229S)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 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
Select item 39706	NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del)	PIK3CA (E453del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	Segmental undergrowth associated with mainly venous malformation with capillary component +18 more	GPathogenic
Select item 39704	NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	PIK3CA (C378Y)	Single nucleotide variant (missense variant)	PIK3CA-related disorder +3 more	GPathogenic
Select item 39703	NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	PIK3CA (G914R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
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 13657	NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	PIK3CA (Q546K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13655	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	PIK3CA (E545K)	Single nucleotide variant (missense variant)	Eccrine angiomatous hamartoma +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

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Items: 44