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Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(I713V)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
GUncertain significance
PIK3CA
(D725N)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
GLikely pathogenic
PIK3CA
(P449L)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
GPathogenic
PIK3CA
(V906L)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
GUncertain significance
PIK3CA
(M1043L)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
GLikely pathogenic
PIK3CA
(P449T)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
GPathogenic/Likely pathogenic
PIK3CA
(A1035V)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
GPathogenic
PIK3CA
(R115P)
Single nucleotide variant
(missense variant)
PIK3CA-related disorder
+1 more
GLikely pathogenic
PIK3CA
(D939G)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with mainly venous malformation with capillary component
+2 more
GPathogenic/Likely pathogenic
PIK3CA
(C378R)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+1 more
GPathogenic
PIK3CA
(P449S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PIK3CA
(M1V)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+2 more
GUncertain significance
PIK3CA
(G364R)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+2 more
GPathogenic/Likely pathogenic
PIK3CA
(V146I)
Single nucleotide variant
(missense variant)
not provided
+14 more
GUncertain significance
PIK3CA
(K884R)
Single nucleotide variant
(missense variant)
Cowden syndrome
+16 more
GUncertain significance
PIK3CA
(E365K)
Single nucleotide variant
(missense variant)
Angioosteohypertrophic syndrome
+4 more
GPathogenic
PIK3CA
(D350N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PIK3CA
(P377R)
Single nucleotide variant
(missense variant)
Cowden syndrome
+14 more
GUncertain significance
PIK3CA
(N345T)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+1 more
GPathogenic
PIK3CA
(E81K)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+3 more
GPathogenic
PIK3CA
(E726K)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
PIK3CA
(E453K)
Single nucleotide variant
(missense variant)
CLOVES syndrome
+5 more
GPathogenic
PIK3CA
(G1049S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PIK3CA
(P539R)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
GLikely pathogenic
PIK3CA
(N345K)
Single nucleotide variant
(missense variant)
not provided
+14 more
GPathogenic
PIK3CA
(R88Q)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+4 more
GPathogenic
PIK3CA
(R108H)
Single nucleotide variant
(missense variant)
Cowden syndrome
+4 more
GConflicting classifications of pathogenicity
RIT1
(R122L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+3 more
GConflicting classifications of pathogenicity
PIK3CA
(I112N)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
GPathogenic
PIK3CA
(E545D)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+1 more
GPathogenic/Likely pathogenic
PIK3CA
(M1043I)
Single nucleotide variant
(missense variant)
Cowden syndrome
+3 more
GPathogenic/Likely pathogenic
AKT3
(N229S)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GPathogenic
PIK3R2
(G373R)
Single nucleotide variant
(missense variant +1 more)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
PIK3CA
(E453del)
Microsatellite
(inframe_deletion)
Cowden syndrome
+1 more
GPathogenic
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
+17 more
GPathogenic
PIK3CA
(C378Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
+3 more
GPathogenic
PIK3CA
(G914R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with lymphatic malformation
+4 more
GPathogenic/Likely pathogenic
PIK3CA
(H1047L)
Single nucleotide variant
(missense variant)
Colorectal cancer
+6 more
GPathogenic
PIK3CA
(H1047R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
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