Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | not specified +16 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +14 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | not provided +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related disorder +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related disorder +31 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
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