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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(V146I)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+14 more
GUncertain significance
PIK3CA
(N345K)
Single nucleotide variant
(missense variant)
Congenital macrodactylia
+14 more
GPathogenic
PIK3CA
(P377R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+14 more
GUncertain significance
PIK3CA
(K884R)
Single nucleotide variant
(missense variant)
not specified
+16 more
GUncertain significance
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
not provided
+18 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
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