| | | Single nucleotide variant (synonymous variant) | PIK3CA-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PIK3CA-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | PIK3CA-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 5 +3 more | |
| | | Single nucleotide variant (intron variant) | PIK3CA-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Angioosteohypertrophic syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | PIK3CA-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +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) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | PIK3CA-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | PIK3CA-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | PIK3CA-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | Cowden syndrome +2 more | |