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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(Q96R)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 4
GUncertain significance
PIK3CA
(K111E)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GPathogenic
PIK3CA
(V344M)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
+3 more
GPathogenic
PIK3CA
(E453K)
Single nucleotide variant
(missense variant)
CLOVES syndrome
+5 more
GPathogenic
PIK3CA
(R537Q)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
+1 more
GUncertain significance
PIK3CA
(D625N)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GUncertain significance
PIK3CA
(G914R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
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