| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +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 (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +14 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 5 +4 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 5 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 5 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 5 +3 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (nonsense) | Cowden syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 5 | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +18 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |