U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(C420R)
Single nucleotide variant
(missense variant)
Cowden syndrome
+6 more
GPathogenic
PIK3CA
(E542K)
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)
not provided
+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
Format
Sort by
Choose Destination