Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | CLAPO syndrome | |
| | | Single nucleotide variant (missense variant) | CLAPO syndrome | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | Seborrheic keratosis +14 more | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +17 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | 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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