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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(E110del)
Microsatellite
(inframe_deletion)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GLikely pathogenic
PIK3CA
(G118D)
Single nucleotide variant
(missense variant)
Cowden syndrome
+2 more
GPathogenic
PIK3CA
(E365K)
Single nucleotide variant
(missense variant)
PIK3CA-related disorder
+4 more
GPathogenic
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with lymphatic malformation
+4 more
GPathogenic/Likely pathogenic
PIK3CA
(G914R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
GNAQ
(R183Q)
Single nucleotide variant
(missense variant)
Hemangiomatosis
+6 more
GPathogenic/Likely pathogenic
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