Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | CLAPO syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer +16 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +18 more | |
| | | Single nucleotide variant (missense variant) | Ovarian neoplasm +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) | 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 | |
Click to view in NCBI Gene