| | | Single nucleotide variant (splice donor variant) | CLOVES syndrome | |
| | | Indel (inframe_indel) | CLOVES syndrome | |
| | | Deletion (inframe_deletion) | Vascular Malformations and Overgrowth +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CLOVES syndrome | |
| | | Microsatellite (inframe_deletion) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Capillary malformation +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +14 more | |
| | | Single nucleotide variant (missense variant) | not specified +16 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | CLOVES syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Non-small cell lung carcinoma +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Segmental undergrowth associated with mainly venous malformation with capillary component +18 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +7 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) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more | |