Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Proteus syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Uterine carcinosarcoma +13 more | GPathogenic/Likely pathogenic |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Non-small cell lung carcinoma +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Insertion | Breast adenocarcinoma | |
| | | Deletion | Breast adenocarcinoma | |
| | | Deletion | Breast adenocarcinoma | |
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