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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(C420R)
Single nucleotide variant
(missense variant)
Ovarian neoplasm
+7 more
GPathogenic
OOncogenic
PIK3CA
(E542K)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
+1 more
GPathogenic
OOncogenic
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
CLOVES syndrome
+6 more
GPathogenic/Likely pathogenic
OOncogenic
PIK3CA
(H1047L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GPathogenic
OOncogenic
PIK3CA
(H1047R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
+1 more
GPathogenic
OOncogenic
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