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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(H1047R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
TP53
(M133K +2 more)
Single nucleotide variant
(missense variant +2 more)
Breast carcinoma
GLikely pathogenic