Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Segmental undergrowth associated with lymphatic malformation +6 more | GPathogenic/Likely pathogenic |
| | | 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