| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | CLOVES syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | CLOVES syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Colorectal cancer +6 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
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