| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +14 more | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 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) | not provided +18 more | |
| | | Single nucleotide variant (missense variant +1 more) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
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