| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more | |
| | | Single nucleotide variant (missense variant) | Eccrine angiomatous hamartoma +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ovarian neoplasm | |
| | | Single nucleotide variant (missense variant) | Ovarian neoplasm +3 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Vascular malformation +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (nonsense) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (nonsense) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | Sturge-Weber syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome +8 more | |
| | | Single nucleotide variant (nonsense) | Cowden syndrome +6 more | GPathogenic/Likely pathogenic |